88 results on '"Wakim, R."'
Search Results
2. Dubowitz syndrome: common findings and peculiar urine odor
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Chehade C, Awwad J, Yazbeck N, Majdalani M, Wakim R, Tfayli H, and Farra C
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Medicine (General) ,R5-920 ,Genetics ,QH426-470 - Abstract
Cynthia Chehade,1 Johnny Awwad,2 Nadine Yazbeck,1 Marianne Majdalani,1 Rima Wakim,1 Hala Tfayli,1 Chantal Farra1,31Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon; 2Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, Lebanon; 3Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, LebanonBackground: Dubowitz syndrome is a rare, autosomal recessive disorder characterized by intrauterine and postnatal growth retardation, severe microcephaly, psychomotor retardation, hyperactivity, eczema, and characteristic dysmorphic facial features. Although many cases have been reported, the cause of this disease is still unknown.Case: We present here the case of a Lebanese girl with Dubowitz syndrome in whom an unpleasant urine odor was persistently reported since birth.Conclusion: Although Dubowitz syndrome has been largely described in the medical literature, this is the first time that a peculiar urine odor was reported. This case report adds a new and unusual feature to the numerous findings related to this rare polymorphous syndrome.Keywords: Dubowitz syndrome, autosomal recessive, developmental delay, odorous urine
- Published
- 2013
3. A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder
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Farra C, Yunis K, Yazbeck N, Majdalani M, Charafeddine L, Wakim R, and Awwad J
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Medicine (General) ,R5-920 ,Genetics ,QH426-470 - Abstract
Chantal Farra1,2, Khaled Yunis1, Nadine Yazbeck1, Marianne Majdalani1, Lama Charafeddine1, Rima Wakim1, Johnny Awwad31Department of Pediatrics and Adolescent Medicine, 2Department of Pathology, 3Department of Obstetrics and Gynecology, American University of Beirut Medical Center, Beirut, LebanonAbstract: Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities, and vertebral anomalies of different sizes and shapes. Most cases are thought to be sporadic. However, a few families were reported to have an autosomal recessive inheritance and other families' presentation of the syndrome strongly supported an autosomal dominant inheritance. We report OAV in a female infant presenting with tracheomalacia, diaphragmatic hernia, encephalomeningocele, sacral neural tube defect, and cardiac defect and her brother having no more than dysmorphic features. The mode of inheritance in this family supports an autosomal recessive inheritance where the transmission was from normal first-degree consanguineous parents to one of the sons and to the daughter. This report further broadens the clinical presentation and symptoms of OAV and supports the hypothesis advancing OAV as a genetically heterogeneous disorder.Keywords: oculo-auriculo-vertebral spectrum, Goldenhar syndrome, diaphragmatic hernia, neural tube defect
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- 2011
4. Selenium levels in Lebanese environment
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Wakim, R., Bashour, I., Nimah, M., Sidahmed, M., and Toufeili, I.
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- 2010
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5. Massive liver haemangioma causing Kasabach–Merritt syndrome in an adult
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Alimoradi, M, primary, Sabra, H, additional, El-Helou, E, additional, Chahal, A, additional, and Wakim, R, additional
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- 2020
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6. Antral follicle count, anti-mullerian hormone and inhibin B: predictors of ovarian response in assisted reproductive technology?
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Muttukrishna, S., McGarrigle, H., Wakim, R., Khadum, I., Ranieri, D. M., and Serhal, P.
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- 2005
7. Underlying mechanisms of carbapenem resistance in extended-spectrum β-lactamase-producing Klebsiella pneumoniae and Escherichia coli isolates at a tertiary care centre in Lebanon: role of OXA-48 and NDM-1 carbapenemases
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Baroud, M., Dandache, I., Araj, G.F., Wakim, R., Kanj, S., Kanafani, Z., Khairallah, M., Sabra, A., Shehab, M., Dbaibo, G., and Matar, G.M.
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- 2013
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8. J. A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome
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Chou, J, Hanna Wakim, R, Tirosh, I, Kane, J, Fraulino, D, Lee, Yn, Ghanem, S, Mahfouz, I, Megarbane, A, Lefranc, G, Inati, A, Dbaibo, G, Giliani, Silvia Clara, Notarangelo, Ld, Geha, Rs, and Massaad, M.
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- 2012
9. DOCK8 functions as an adaptor that links TLR-MyD88 signalling to B cell activation
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Jabara, H. H., Mcdonald, D. R., Janssen, E., Massaad, M. J., Ramesh, N., Borzutzky, A., Rauter, I., Benson, H., Schneider, L., Baxi, S., Recher, M., Notarangelo, L. D., Wakim, R., Dbaibo, G., Dasouki, M., Al Herz, W., Barlan, I., Baris, S., Kutukculer, N., Ochs, H. D., Plebani, Alessandro, Kanariou, M., Lefranc, G., Reisli, I., Fitzgerald, K. A., Golenbock, D., Manis, J., Keles, S., Ceja, R., Chatila, T. A., and Geha, R. S.
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DOCK8 ,B cell activation ,Adaptor protein ,TLR-MyD88 signalling - Published
- 2012
10. Some observations on operating femtocells on the same channel as macro systems based on measurements and simulations.
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Weitzen, J.A. and Wakim, R.
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- 2011
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11. Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations
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Muge Sayitoglu, Raif S. Geha, Luca Maragliano, Carla Borzacchiello, A Worth, Ghassan Dbaibo, Moaffaq Mahdi, Bénédicte Neven, Peter Ciznar, Ioanna A. Rota, Ana E. Sousa, José Gonçalo Marques, Akella Radha Rama Devi, Emilia Cirillo, Rima Hanna-Wakim, E. Graham Davies, Giuliana Giardino, Alexandra Y. Kreins, Janet Chou, Sule Haskologlu, Georg A. Holländer, Fabio Benfenati, Candan Islamoglu, Figen Dogu, Fatima Dhalla, Claudio Pignata, Sinem Firtina, Aydan Ikinciogullari, Svetlana O. Sharapova, Repositório da Universidade de Lisboa, İstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Moleküler Biyoloji ve Genetik Bölümü, Sinem Fırtına / 0000-0002-3370-8545, Fırtına, Sinem, Sinem Fırtına / X-8520-2018, Sinem Fırtına / 16642650000, Giardino, G., Sharapova, S. O., Ciznar, P., Dhalla, F., Maragliano, L., Radha Rama Devi, A., Islamoglu, C., Ikinciogullari, A., Haskologlu, S., Dogu, F., Hanna-Wakim, R., Dbaibo, G., Chou, J., Cirillo, E., Borzacchiello, C., Kreins, A. Y., Worth, A., Rota, I. A., Marques, J. G., Sayitoglu, M., Firtina, S., Mahdi, M., Geha, R., Neven, B., Sousa, A. E., Benfenati, F., Hollander, G. A., Davies, E. G., and Pignata, C.
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0301 basic medicine ,Male ,Models, Molecular ,FOXN1 ,DNA Mutational Analysis ,Molecular Conformation ,Compound heterozygosity ,0302 clinical medicine ,Immunology and Allergy ,heterozygous ,Homozygous ,Dominance (genetics) ,nail dystrophy ,Homozygote ,Hematopoietic Stem Cell Transplantation ,Disease Management ,High-Throughput Nucleotide Sequencing ,Forkhead Transcription Factors ,heterozygou ,Phenotype ,Pedigree ,Treatment Outcome ,Child, Preschool ,Original Article ,Female ,Omenn syndrome ,Heterozygote ,Immunology ,homozygous ,Cell Line ,Gene product ,03 medical and health sciences ,Structure-Activity Relationship ,Nude SCID ,medicine ,Compound heterozygous ,Humans ,Nail dystrophy ,Genetic Predisposition to Disease ,Gene ,Genetic Association Studies ,compound heterozygous ,Newborn screening ,business.industry ,compound heterozygou ,Alopecia ,medicine.disease ,alopecia ,030104 developmental biology ,Heterozygous ,Genetic Loci ,Mutation ,Severe Combined Immunodeficiency ,business ,EBV-related lymphoproliferative disease ,homozygou ,030215 immunology - Abstract
© The Author(s) 2021. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/., Human nude SCID is a rare autosomal recessive inborn error of immunity (IEI) characterized by congenital athymia, alopecia, and nail dystrophy. Few cases have been reported to date. However, the recent introduction of newborn screening for IEIs and high-throughput sequencing has led to the identification of novel and atypical cases. Moreover, immunological alterations have been recently described in patients carrying heterozygous mutations. The aim of this paper is to describe the extended phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations. We collected clinical and laboratory information of a cohort of 11 homozygous, 2 compound heterozygous, and 5 heterozygous patients with recurrent severe infections. All, except one heterozygous patient, had signs of CID or SCID. Nail dystrophy and alopecia, that represent the hallmarks of the syndrome, were not always present, while almost 50% of the patients developed Omenn syndrome. One patient with hypomorphic compound heterozygous mutations had a late-onset atypical phenotype. A SCID-like phenotype was observed in 4 heterozygous patients coming from the same family. A spectrum of clinical manifestations may be associated with different mutations. The severity of the clinical phenotype likely depends on the amount of residual activity of the gene product, as previously observed for other SCID-related genes. The severity of the manifestations in this heterozygous family may suggest a mechanism of negative dominance of the specific mutation or the presence of additional mutations in noncoding regions.
- Published
- 2021
12. Workplace wellness across the lifespan: A pilot program for health promotion in a low- and middle-income country.
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Al Bizri A, Walani S, Nassar A, Saab B, Hanna Wakim R, Noureddine A, Chahrouri M, Nakad P, Jaber D, and Yunis K
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- Humans, Pilot Projects, Male, Female, Adult, Lebanon, Middle Aged, Occupational Health, Health Behavior, Life Style, Health Education organization & administration, Health Education methods, Surveys and Questionnaires, Developing Countries, Young Adult, Health Promotion methods, Workplace, Health Knowledge, Attitudes, Practice
- Abstract
Considering that a sizable segment of the population spends significant amount of time at work, workplaces have been identified as practical platforms for health educational programs. Although employee wellness programs in high-income countries have shown measurable benefits in productivity and physical and mental health, evidence-based programs in low- and middle-income countries, such as Lebanon, are unavailable. The aim is to develop and implement a pilot workplace wellness program focusing on health-related areas to improve health knowledge and behavior among working men and women of reproductive age. In collaboration with March of Dimes, the National Collaborative Perinatal Neonatal Network developed a culturally sensitive health education program focusing on lifestyle, infection, nutrition and family planning. Sessions were delivered by a multidisciplinary team of specialists at a local bank in Lebanon. To assess the impact of the program, participants completed Knowledge and Behavior Assessment Questionnaire (KBAQ) before and after implementation. KBAQ was conducted 6 months after implementation to measure retention and continuing impact. Forty-seven participants completed the program, of whom 44.7% are male, 98% have university degree and 56.5% are married. Total knowledge score improved significantly from 64.2 to 74.3 and remained significant at 6 months post-implementation with a score of 71.7 (p < 0.001). At 6-month follow-up, emotional score improved (p = 0.028), while smoking decreased (p = 0.008). Also, employees' health knowledge and behavior showed sustained and significant improvement. We plan to implement our program at other sites and among employees from different backgrounds to understand the impact of the wellness program on employees' knowledge and behaviors at a larger scale., (© The Author(s) 2024. Published by Oxford University Press.)
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- 2024
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13. Hepatitis A virus induced acute acalculous cholecystitis diagnosed postoperatively: Case report.
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Tabbikha O, Dasuki M, Kanaan A, Ali B, Hadeer RA, and Wakim R
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Introduction: acute acalculous cholecystitis (AAC) is defined as gallbladder inflammation without the presence of stones. Contrary, hepatitis A virus (HAV) can present with different symptoms; however, HAV causing and presenting as AAC is rare., Case Presentation: 41-year-old previously healthy patient presented with right upper quadrant abdominal pain. The pain was persistent and associated with vomiting and laboratory tests showed elevated bilirubin. Laparoscopic cholecystectomy showed inflamed gallbladder with no stones and intraoperative cholangiography showed no abnormalities. Day one post-operation, while the pain resolved, labs showed elevated liver function tests and hepatitis workup showed acute HAV infection attributing her presentation to HAV induced AAC., Discussion: AAC is usually caused by stasis of the gallbladder due to different causes; however, HAV induced AAC has been rarely reported. While cholecystectomy is the mainstay treatment for AAC, this might not be the case for HAV induced AAC. For instance, unless there is necrotic gallbladder or persistence of symptoms, AAC can be managed conservatively in this case. Even though our diagnosis was cleared post-operatively, had we knew the diagnosis of HAV induced AAC before, we would have still opt for surgery due to the severity and persistence of pain., Conclusion: More cases should be reported and more studies should be done to further define the presentation and management of HAV induced AAC., Competing Interests: Conflict of interest statement The authors report no conflict of interest., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)
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- 2024
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14. Primary Hepatic Neuroendocrine Tumor: A Case Report and Literature Review.
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Ghattas S, Al Bitar J, Chahine G, Kamar F, Haddad M, and Wakim R
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Primary hepatic neuroendocrine tumors (PHNETs) are extremely rare and account for about 0.3% of all neuroendocrine tumor cases. Resection is usually difficult because they are usually diagnosed in the late stages. We report the case of a patient diagnosed with PHNETs, initially classified as unresectable but then underwent a successful left hepatectomy. PHNETs are rare malignant tumors, and a high index of suspicion is warranted for the diagnosis after excluding the presence of a primary extrahepatic lesion. Radical hepatectomy can be curative when feasible along with a combination of multiple treatments that improve the prognosis., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2024 Souad Ghattas et al.)
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- 2024
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15. A novel homozygous mutation in RASGRP1 that predisposes to immune dysregulation and immunodeficiency associated with uncontrolled Epstein-Barr virus-induced B cell proliferation.
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Mansour R, El-Orfali Y, Saidu A, Al-Kalamouni H, Mardirossian H, Hanna-Wakim R, Abboud M, and Massaad MJ
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- Humans, Male, Cell Proliferation genetics, DNA-Binding Proteins genetics, Guanine Nucleotide Exchange Factors genetics, Guanine Nucleotide Exchange Factors metabolism, Herpesvirus 4, Human, Mutation, Epstein-Barr Virus Infections complications, Epstein-Barr Virus Infections genetics, Immunologic Deficiency Syndromes complications, Immunologic Deficiency Syndromes genetics, Lymphopenia complications, Lymphopenia genetics
- Abstract
Background: RASGRP1-deficiency results in an immune dysregulation and immunodeficiency that manifest as autoimmunity, lymphoproliferation, lymphopenia, defective T cell function, and increased incidence of Epstein-Bar Virus infections and lymphomas., Objective: To investigate the mechanism of autoimmune hemolytic anemia and infections in a male patient of consanguineous parents from Lebanon., Methods: Genetic diagnosis was obtained using next generation and Sanger sequencing. Protein expression and phosphorylation were determined by immunoblotting. T and B cell development and function were studied by flow cytometry. Cytokine and immunoglobulin secretions were quantified by enzyme-linked immunosorbent assay., Results: The patient suffered from severe lymphopenia especially affecting the T cell compartment. Genetic analysis revealed a homozygous insertion of adenine at position 1396_1397 in RASGRP1 that abolished protein expression and downstream Ras signaling. T cells from the patient showed severe activation defects resulting in uncontrolled Epstein-Bar Virus-induced B cell proliferation. B cells from the patient were normal., Conclusion: This report expands the spectrum of mutations in patients with RasGRP1 deficiency, and provides evidence for the important role RasGRP1 plays in the ability of T cells to control Epstein-Bar Virus-induced B cell proliferation., Clinical Implications: Following diagnosis, the patient will be maintained on oral valganciclovir and monitored regularly for Epstein-Bar Virus infections to avoid the development of Epstein-Bar Virus- induced B cell lymphoma. He is also candidate for hematopoietic stem cell transplantation., (Copyright © 2023 Elsevier Inc. All rights reserved.)
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- 2023
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16. The opposing effects of two gene defects in STX11 and SLP76 on the disease in a patient with an inborn error of immunity.
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Mansour R, El-Hassan R, El-Orfali Y, Saidu A, Al-Kalamouni H, Chen Q, Benamar M, Dbaibo G, Hanna-Wakim R, Chatila TA, and Massaad MJ
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- Humans, Extracellular Signal-Regulated MAP Kinases, Mutation, Qa-SNARE Proteins genetics, Receptors, Antigen, T-Cell genetics, Signal Transduction, Actins, Lymphohistiocytosis, Hemophagocytic genetics
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Background: Inborn errors of immunity are mostly monogenic. However, disease phenotype and outcome may be modified by the coexistence of a second gene defect., Objective: We sought to identify the genetic basis of the disease in a patient who experienced bleeding episodes, pancytopenia, hepatosplenomegaly, and recurrent pneumonia that resulted in death., Methods: Genetic analysis was done using next-generation sequencing. Protein expression and phosphorylation were determined by immunoblotting. T-cell proliferation and F-actin levels were studied by flow cytometry., Results: The patient harbored 2 homozygous deletions in STX11 (c.369_370del, c.374_376del; p.V124fs60∗) previously associated with familial hemophagocytic lymphohistiocytosis and a novel homozygous missense variant in SLP76 (c.767C>T; p.T256I) that resulted in an approximately 85% decrease in SLP76 levels and absent T-cell proliferation. The patient's heterozygous family members showed an approximately 50% decrease in SLP76 levels but normal immune function. SLP76-deficient J14 Jurkat cells did not express SLP76 and had decreased extracellular signal-regulated kinase signaling, basal F-actin levels, and polymerization following T-cell receptor stimulation. Reconstitution of J14 cells with T256I mutant SLP76 resulted in low protein expression and abnormal extracellular signal-regulated kinase phosphorylation and F-actin polymerization after T-cell receptor activation compared with normal expression and J14 function when wild-type SLP76 was introduced., Conclusions: The hypomorphic mutation in SLP76 tones down the hyperinflammation due to STX11 deletion, resulting in a combined immunodeficiency that overshadows the hemophagocytic lymphohistiocytosis phenotype. To our knowledge, this study represents the first report of the opposing effects of 2 gene defects on the disease in a patient with an inborn error of immunity., (Copyright © 2023 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.)
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- 2023
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17. A Quality improvement initiative to reduce central line-associated bloodstream infections in a neonatal intensive care unit in a low-and-middle-income country.
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Al Bizri A, Hanna Wakim R, Obeid A, Daaboul T, Charafeddine L, Mounla N, Nakad P, and Yunis K
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- Infant, Infant, Newborn, Female, Pregnancy, Humans, Intensive Care Units, Neonatal, Anti-Bacterial Agents, Checklist, Quality Improvement, Sepsis
- Abstract
Background: Premature and sick neonates in the neonatal intensive care unit (NICU) are in need of central lines placing them at high risk of contracting a central line-associated bloodstream infection (CLABSI). CLABSI extends length of stay to 10-14 days post negative cultures and increases morbidity, use of multiple antibiotics, mortality and hospital cost. To reduce CLABSI rate at the American University of Beirut Medical Center NICU, the National Collaborative Perinatal Neonatal Network developed a quality improvement project to reduce CLABSI rate by 50% over a 1-year period and to sustain reduced CLABSI rate., Methods: Central line insertion and maintenance bundles were implemented for all infants admitted to the NICU necessitating central lines placement. Bundles included hand washing, wearing protective material and sterile drapes during central lines insertion and maintenance., Results: CLABSI rate decreased by 76% from 4.82 (6 infections; 1244 catheter days) to 1.09 (2 infection; 1830 catheter days) per 1000 CL days after 1 year. Following the bundles' success in reducing CLABSI rate, they were incorporated permanently to NICU standard procedure and bundle checklists were added to the medical sheets. CLABSI rate was maintained at 1.15 per 1000 CL days during the second year. It then decreased to 0.66 per 1000 CL days in the third year before reaching zero in the fourth year. In total, zero CLABSI rate was sustained for 23 consecutive months., Conclusion: Reducing CLABSI rate is necessary to improving newborn quality of care and outcome. Our bundles were successful in drastically reducing and sustaining a low CLABSI rate. It was even successful in achieving a zero CLABSI unit for 2 years., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
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- 2023
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18. Meckel's Diverticulum Causing a Small Bowel Obstruction in an 80-Year-Old Male: Report of a Rare Case and Review of the Literature.
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Zaatar J, Ghattas S, Al Bitar J, and Wakim R
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Meckel's diverticulum (MD) is the most common congenital malformation occurring in the gastrointestinal tract and results from the persistence of the vitelline duct during embryology. MD is typically asymptomatic in adults with most of its symptoms manifesting in early childhood. Small bowel obstruction (SBO) due to MD in the elderly population is an entity that has not been widely described in the literature. We present a very rare case of SBO in an 80-year-old patient with no previous abdominal surgeries (virgin abdomen). The cause of obstruction was determined to be an adhesive band formed on top of an MD. The obstruction was relieved and the small bowel segment that contained the diverticulum was resected, and anastomosis was made., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Zaatar et al.)
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- 2023
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19. Gastric Volvulus: A Delayed Surgical Complication After Debulking and Hyperthermic Intraperitoneal Chemotherapy for Advanced Ovarian Cancer.
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Ghattas S, Maalouf H, Hadeer RA, Elias F, Abou Zeid HK, Kahy A, and Wakim R
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Gastric volvulus in conjunction with diaphragmatic hernia is an uncommon but life-threatening presentation that is generally in association with hiatal hernia or diaphragmatic injuries. Diaphragmatic hernia with gastric volvulus can occur many years after cytoreductive surgery and hyperthermic intraperitoneal chemotherapy despite initial diaphragm intactness, and should be suspected in this patient population when they present with upper gastrointestinal obstruction. An acute episode of gastric volvulus can have a mortality of 30% to 50%, hence the importance of early diagnosis and treatment. Surgical management remains the treatment of choice and can be an emergency in obstructive cases. We report the case of a 68-year-old woman presenting with signs and symptoms of acute upper gastrointestinal obstruction. Three years ago, the patient had undergone debulking surgery and hyperthermic intraperitoneal chemotherapy for peritoneal carcinomatosis secondary to advanced ovarian cancer. A diagnosis of gastric volvulus was established. The pylorus was seen near the cardia on gastroscopy, and barium swallow showed stomach upside down and with a mirror image of normal anatomy suggestive of gastric volvulus. We opted for urgent laparotomy that revealed the presence of a rotated stomach adherent to the spleen and left diaphragm. After reduction, a diaphragmatic defect that was missed on the computed tomography scan was discovered and repaired, and the patient recovered uneventfully., (© 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology.)
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- 2023
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20. Multisystem inflammatory syndrome in children (MIS-C) and "Near MIS-C": A continuum?
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Khafaja S, Youssef N, El Zein Z, Boutros CF, Bou Karroum S, Abdel-Halim N, Salameh R, Hodroj D, El Meski N, Nasrallah O, Bidikian A, Bou Saba G, Arabi MT, Hanna-Wakim R, and Dbaibo GS
- Abstract
Introduction: Reports of multisystem inflammatory syndrome in children (MIS-C), following severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, have been increasing worldwide, with an incidence varying significantly across studies based on the definition used for the diagnosis. At our tertiary medical center in Lebanon, we encountered several cases that presented a diagnostic challenge because they mimicked MIS-C but did not meet the US Centers for Disease Control and Prevention (CDC) definition. We decided to review these cases and describe their features in comparison with cases that met the CDC criteria of MIS-C and those that had an alternative diagnosis., Methods: This is a retrospective chart review of subjects aged <19 years old admitted to the American University of Beirut Medical Center (AUBMC) between March 1, 2020, and May 31, 2021, with suspected or confirmed MIS-C, following documented COVID-19 infection, with sufficient or insufficient criteria for diagnosis. Subjects were classified into 3 groups: "MIS-C", "Near MIS-C" and "Alternative Diagnosis"., Results: A total number of 29 subjects were included in our cohort. Fever was present in all subjects. In the MIS-C group, evidence for cardiovascular system involvement was the most common feature followed by the mucocutaneous and gastrointestinal systems. In the "Near MIS-C" and "Alternative Diagnosis" group, gastrointestinal symptoms were the most common with only one patient with cardiac abnormalities and none with coagulopathy. Subjects with typical MIS-C presentation had higher inflammatory markers when compared to subjects in the other groups. Almost all the subjects had positive IgG for SARS-CoV-2. Of the 29 subjects, the Royal College of Paediatrics and Child Health (RCPCH) case definition would have identified all suspected cases without an alternative diagnosis as MIS-C, whereas the World Health Organization (WHO) and the CDC definitions would have excluded 6 and 10 subjects, respectively., Conclusion: MIS-C presents a diagnostic challenge due to the nonspecific symptoms, lack of pathognomonic findings, and potentially fatal complications. More research is needed to fully understand its pathogenesis, clinical presentation spectrum, and diagnostic criteria. Based on our experience, we favor the hypothesis that MIS-C has a continuum of severity that necessitates revisiting and unifying the current definitions., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Khafaja, Youssef, El Zein, Boutros, Bou Karroum, Abdel-Halim, Salameh, Hodroj, El Meski, Nasrallah, Bidikian, Bou Saba, Arabi, Hanna-Wakim and Dbaibo.)
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- 2023
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21. Author Correction: DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation.
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Jabara HH, McDonald DR, Janssen E, Massaad MJ, Ramesh N, Borzutzky A, Rauter I, Benson H, Schneider L, Baxi S, Recher M, Notarangelo LD, Wakim R, Dbaibo G, Dasouki M, Al-Herz W, Barlan I, Baris S, Kutukculer N, Ochs HD, Plebani A, Kanariou M, Lefranc G, Reisli I, Fitzgerald KA, Golenbock D, Manis J, Keles S, Ceja R, Chatila TA, and Geha RS
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- 2022
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22. Symptomatic Pneumomediastinum Following Laparoscopic Cholecystectomy: A Case Report and a Literature Review.
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Maalouf HH, Aby Hadeer R, Tabbikha O, Abou-Malhab C, and Wakim R
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Isolated pneumomediastinum is a rare complication after laparoscopic procedures. Herein, we present a case of a 38-year-old woman who presented two days after laparoscopic cholecystectomy with pleuritic chest pain and dyspnea and was found to have isolated pneumomediastinum. The patient was admitted for monitoring, oxygen therapy, and antibiotic prophylaxis and she was discharged on the fourth postoperative day when her symptoms resolved both subjectively and radiologically. Only two other cases of symptomatic isolated pneumomediastinum after laparoscopic cholecystectomy were reported in the literature and all of them were female patients, diagnosed radiologically, and treated conservatively. Therefore, isolated pneumomediastinum should be included in the differential diagnosis of dyspnea and chest pain after laparoscopic surgeries in order to have an early diagnosis, start early treatment, and prevent unnecessary investigations or advancement of the disease., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Maalouf et al.)
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- 2022
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23. Spontaneous Gastric Intramural Hematoma: Case Report and Literature Review.
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Tabbikha O, Maalouf H, Abou-Malhab C, Aby Hadeer R, and Wakim R
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Spontaneous gastric intramural hematoma is a rare disease. Herein, we present a case of a previously healthy 28-year-old male patient who presented with diarrhea and diffuse abdominal pain of one-week duration. The patient was diagnosed with spontaneous gastric intramural hematoma post urgent partial gastrectomy for a bleeding gastric tumor. Six other cases of spontaneous gastric intramural hematoma are published in the literature; therefore, when encountering a case of intra-abdominal mass attached to the gastric wall, gastric intramural hematoma should be considered in the differential even when no cause is present., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Tabbikha et al.)
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- 2022
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24. Surgical management of 10 years delayed recurrent acute pancreatitis post Whipple procedure for chronic pancreatitis: A case report.
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Abdel Backi S, Tabbikha O, El Bitar J, Ghattas S, and Wakim R
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Introduction: In patients who underwent pancreatoduodenectomy for management of Chronic pancreatitis, early and late anastomotic failure can occur [1]. Nevertheless, taking into consideration that most pancreatic head resections are performed for malignant disease with poor prognosis, long term pancreatico-jejunal anastomotic durability has not been well examined; similarly, the management of its stenosis has not been well assessed [1]., Case: Here we present a case of a 69 years old male patient with history of chronic alcoholic pancreatitis and ampullary fibrosis managed by pancreatico-duodenectomy presenting for 10 years delayed onset of recurrent acute pancreatitis with signs of pancreatico-jejunal anastomotic stenosis, managed surgically with revision of pancreatico-jejunal anastomosis., Conclusion: Our case report might hold strongly for bringing up a purposeful approach, and be an insight to take into consideration in approaching pancreatic anastomosis, especially when pancreatic resections are utilized for treating benign pathologies., (Copyright © 2021 The Authors. Published by Elsevier Ltd.. All rights reserved.)
- Published
- 2021
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25. Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.
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Giardino G, Sharapova SO, Ciznar P, Dhalla F, Maragliano L, Radha Rama Devi A, Islamoglu C, Ikinciogullari A, Haskologlu S, Dogu F, Hanna-Wakim R, Dbaibo G, Chou J, Cirillo E, Borzacchiello C, Kreins AY, Worth A, Rota IA, Marques JG, Sayitoglu M, Firtina S, Mahdi M, Geha R, Neven B, Sousa AE, Benfenati F, Hollander GA, Davies EG, and Pignata C
- Subjects
- Cell Line, Child, Preschool, DNA Mutational Analysis, Disease Management, Female, Forkhead Transcription Factors chemistry, Genetic Association Studies, Genetic Loci, Genetic Predisposition to Disease, Hematopoietic Stem Cell Transplantation, High-Throughput Nucleotide Sequencing, Humans, Male, Models, Molecular, Molecular Conformation, Pedigree, Severe Combined Immunodeficiency therapy, Structure-Activity Relationship, Treatment Outcome, Forkhead Transcription Factors genetics, Heterozygote, Homozygote, Mutation, Phenotype, Severe Combined Immunodeficiency diagnosis, Severe Combined Immunodeficiency etiology
- Abstract
Human nude SCID is a rare autosomal recessive inborn error of immunity (IEI) characterized by congenital athymia, alopecia, and nail dystrophy. Few cases have been reported to date. However, the recent introduction of newborn screening for IEIs and high-throughput sequencing has led to the identification of novel and atypical cases. Moreover, immunological alterations have been recently described in patients carrying heterozygous mutations. The aim of this paper is to describe the extended phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations. We collected clinical and laboratory information of a cohort of 11 homozygous, 2 compound heterozygous, and 5 heterozygous patients with recurrent severe infections. All, except one heterozygous patient, had signs of CID or SCID. Nail dystrophy and alopecia, that represent the hallmarks of the syndrome, were not always present, while almost 50% of the patients developed Omenn syndrome. One patient with hypomorphic compound heterozygous mutations had a late-onset atypical phenotype. A SCID-like phenotype was observed in 4 heterozygous patients coming from the same family. A spectrum of clinical manifestations may be associated with different mutations. The severity of the clinical phenotype likely depends on the amount of residual activity of the gene product, as previously observed for other SCID-related genes. The severity of the manifestations in this heterozygous family may suggest a mechanism of negative dominance of the specific mutation or the presence of additional mutations in noncoding regions.
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- 2021
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26. Case Report: A Delayed Diagnosis of Congenital Syphilis-Too Many Missed Opportunities.
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Khafaja S, Youssef Y, Darjani N, Youssef N, Fattah CM, and Hanna-Wakim R
- Abstract
Congenital syphilis remains a significant public health problem nowadays. We describe the presentation of an infant with a delayed diagnosis of congenital syphilis, with a negative initial non-treponemal test. Our aim is to shed light on the incidence of missed prevention, the importance of awareness, maternal screening, and early diagnosis., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Khafaja, Youssef, Darjani, Youssef, Fattah and Hanna-Wakim.)
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- 2021
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27. Emergence of gram-negative organisms as the cause of infections in patients with sickle cell disease.
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Khalife S, Hanna-Wakim R, Ahmad R, Haidar R, Makhoul PG, Khoury N, Dbaibo G, and Abboud MR
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- Adolescent, Anemia, Sickle Cell pathology, Anemia, Sickle Cell virology, Child, Child, Preschool, Female, Follow-Up Studies, Gram-Negative Bacterial Infections virology, Humans, Incidence, Infant, Infant, Newborn, Lebanon epidemiology, Male, Osteomyelitis pathology, Osteomyelitis virology, Prognosis, Retrospective Studies, Anemia, Sickle Cell epidemiology, Gram-Negative Bacteria pathogenicity, Gram-Negative Bacterial Infections complications, Hospitalization statistics & numerical data, Osteomyelitis epidemiology
- Abstract
Background: Patients with sickle cell disease are at higher risk of infections with encapsulated bacteria due to immature immune responses and functional asplenia. We aimed to study our patient population for the emergence of gram-negative organisms other than Salmonella as the cause of osteomyelitis and document a vast decrease in Streptococcus pneumoniae bacteremia rates., Methods: We conducted a retrospective chart review of 158 patients with sickle cell disease registered at our hospital. Over a period of 13 years, every patient presenting to the emergency department (ED) with fever had their medical record reviewed for blood cultures, wound cultures, and magnetic resonance imaging results for osteomyelitis., Results: The number of patients presenting to the ED with fever was 105, with 581 febrile episodes and 893 blood cultures. Among those, no culture grew Streptococcus pneumoniae, 14 grew coagulase-negative staphylococci (1.5%), one grew Salmonella enterica Paratyphi B, and three grew Salmonella enterica group C (in the same patient). The total number of osteomyelitis episodes in patients with sickle cell disease presenting with fever and documented by imaging was nine (1.5%). In patients with osteomyelitis, organisms were isolated in four patients (44%), including Enterobacter cloacae, Bacteroides, Pseudomonas aeruginosa, and Salmonella enterica group C., Conclusions: Immunization against Streptococcus pneumoniae and the use of prophylactic penicillin has virtually eliminated pneumococcal bacteremia among our patients. We observed the emergence of gram-negative organisms other than Salmonella as the cause of osteomyelitis in patients with sickle cell disease., (© 2020 Wiley Periodicals LLC.)
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- 2021
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28. Placement of Labcor Pulmonary Conduit Results in a High Incidence of Postoperative Fever.
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Shaker R, Arabi M, Khafaja S, Fayad D, Casals AA, Lteif M, Shamseddine S, Taqa MA, Charafeddine F, Rassi IE, Al-Halees Z, Bitar F, Hanna-Wakim R, and Dbaibo G
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- Adolescent, Adult, Child, Preschool, Female, Fever etiology, Follow-Up Studies, Humans, Incidence, Infant, Infant, Newborn, Lebanon epidemiology, Male, Retrospective Studies, Risk Factors, Time Factors, Treatment Outcome, Young Adult, Fever epidemiology, Heart Defects, Congenital surgery, Prostheses and Implants
- Abstract
Background: Fever in the postoperative period in cardiac patients is common. The purpose of this study is to recognize the risk factors for prolonged postoperative fever in cardiac patients with pulmonary conduit insertion., Methods: Patients were identified retrospectively by looking at the International Classification of Diseases, Ninth Revision, Clinical Modification procedure code for pulmonary conduit insertion between June 2009 and December 2015 at the American University of Beirut Medical Center. Data about preoperative, perioperative, and postoperative variables were collected. Data entry and analysis were performed using SPSS version 22., Results: The study identified 59 patients. The most common type of pulmonary conduit used was the Contegra type (57.6%) (n = 34), followed by the Labcor type (20.3%; n = 12). Postoperative fever occurred in 61% of patients (n = 36). Fourteen patients (38.8%) had a prolonged fever that lasted for more than seven days. Prolonged postoperative fever was significantly associated with the Labcor pulmonary conduit ( P value < .001) and a longer duration of pacing wires ( P value: .039). Significantly prolonged fever that lasted for more than 21 days occurred in five patients who all had inserted the Labcor pulmonary conduit., Conclusions: The Labcor pulmonary conduit type is a risk factor for prolonged postoperative fever. The protracted use of pacing wires could be a consequence of the prolonged fever rather than a cause. In the absence of a demonstrable infectious etiology for prolonged postoperative fever in cardiac patients with pulmonary conduit insertion, the Labcor pulmonary conduit could be the underlying cause. Alternative management of such cases may lead to decreased antibiotic use and morbidity.
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- 2021
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29. Wiskott-Aldrich Syndrome in four male siblings from a consanguineous family from Lebanon.
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Mansour R, El-Orfali Y, Saber A, Noun D, Youssef N, Youssef Y, Hanna-Wakim R, Dbaibo G, Abboud M, and Massaad MJ
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- B-Lymphocytes immunology, Child, Child, Preschool, Consanguinity, Humans, Lebanon, Male, Mutation, Siblings, T-Lymphocytes immunology, Wiskott-Aldrich Syndrome immunology, X-Linked Combined Immunodeficiency Diseases immunology, Wiskott-Aldrich Syndrome genetics, Wiskott-Aldrich Syndrome Protein genetics, X-Linked Combined Immunodeficiency Diseases genetics
- Abstract
Background: Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency disorder (PID) characterized by microthrombocytopenia, bloody diarrhea, eczema, recurrent infections, and a high incidence of autoimmunity and malignancy., Objective: To investigate the mechanism of thrombocytopenia and infections in four boys of consanguineous parents from Lebanon., Methods: Patient gDNA was studied using Next Generation Sequencing and Sanger Sequencing. Protein expression was determined by immunoblotting, and mRNA expression by semi-quantitative RT-PCR. F-actin polymerization and cellular proliferation were assayed by flow cytometry., Results: We identified a threonine to a methionine change at position 45 (T45M) of the WAS protein (WASp) that abolished protein expression and disturbed F-actin polymerization and T cell proliferation, but not B cell proliferation. In addition, the levels of the WAS-interacting protein (WIP) were significantly decreased in the patients., Conclusion: The mutation identified severely destabilizes WASp and affects the downstream signaling events important for T cell function, but not B cell function. It was previously known that the stability of WASp depends on WIP. In this manuscript, we report that the stability of WIP also depends on WASp. Finally, it is important to suspect X-linked PIDs even in consanguineous families., Clinical Implications: The patients are above the optimal age for transplant in WAS, and it is difficult to identify one or more donors for four patients, therefore, they represent ideal candidates for gene therapy or interleukin-2 therapy., (Copyright © 2020 Elsevier Inc. All rights reserved.)
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- 2020
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30. Epidemiology and clinical characteristics of viral infections in hospitalized children and adolescents with cancer in Lebanon.
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Chamseddine S, Chmaisse A, Akel I, Zein ZE, Khalil S, Raad SA, Khati A, Ghandour H, Khafaja S, Haj M, Abboud M, Mahfouz R, Araj G, Zaraket H, Hanna-Wakim R, Muwakkit S, and Dbaibo G
- Subjects
- Adolescent, Child, Child, Hospitalized, Child, Preschool, Coinfection complications, Coinfection diagnosis, Coinfection virology, Cytomegalovirus Infections complications, Cytomegalovirus Infections diagnosis, Cytomegalovirus Infections virology, Female, Hematopoietic Stem Cell Transplantation, Hospitals, Humans, Infant, Influenza, Human complications, Influenza, Human diagnosis, Influenza, Human virology, Lebanon epidemiology, Multiplex Polymerase Chain Reaction methods, Neoplasms complications, Neoplasms diagnosis, Neoplasms virology, Pediatrics, Respiratory Syncytial Virus, Human genetics, Respiratory Syncytial Virus, Human isolation & purification, Respiratory Syncytial Virus, Human pathogenicity, Respiratory Tract Infections complications, Respiratory Tract Infections diagnosis, Respiratory Tract Infections virology, Retrospective Studies, Rotavirus Infections complications, Rotavirus Infections diagnosis, Rotavirus Infections epidemiology, Rotavirus Infections pathology, Cytomegalovirus Infections epidemiology, Influenza, Human epidemiology, Neoplasms epidemiology, Respiratory Tract Infections epidemiology
- Abstract
Background: Viral infections in children and adolescents with malignancy are commonly encountered and have a significant impact on morbidity and mortality. Studies and epidemiological data regarding viral infections in children with cancer in developing countries are lacking. This retrospective cohort study aims to assess the burden of viral infections in children and adolescents with cancer, by assessing prevalence, risk factors, as well as morbidity and mortality of common viruses over a period of 8 years., Methods and Findings: Medical records of cancer patients treated at the Children Cancer Center of Lebanon were reviewed and 155 participants under the age of 21 were identified with at least one documented viral infection during the period from July 2009 to November 2017. This subset included 136 participants with active malignancy and 19 participants with a history of cancer who underwent hematopoietic stem cell transplantation [HSCT] and were in remission; the latter group was analyzed separately. Information regarding participant characteristics, hospital course, and complications were obtained. Associations between viral infections and certain factors were assessed. In the cohort, 64% were male, 81% were Lebanese. In participants with active malignancy, 90% received chemotherapy in the 6 months preceding the viral infection episode, 11% received radiotherapy. 51% of participants were neutropenic at the time of viral detection, and 77% were lymphopenic. 17% experienced a bacterial co-infection, and 3 experienced a viral co-infection. Among 162 viral infection episodes, clinically diagnosed skin infections, mainly herpes simplex virus type 1 and varicella-zoster virus, were the most common [44% of cases]. These were followed by laboratory-proven systemic herpes infections: cytomegalovirus [14%] and Epstein-Barr virus [6%]. Respiratory viruses: influenza and respiratory syncytial virus, accounted for 9% and 4%, respectively, whereas rotavirus represented 11% and BK virus represented 3% of cases. Acute lymphocytic leukemia was the most prevalent neoplasia [57%]. Fever was the most common presenting symptom [55%] and febrile neutropenia was the reason for admission in 24% of cases. The mean length of stay was significantly longer in participants with cytomegalovirus infections and significantly lower in rotavirus infection. Admission to the ICU occurred in 9%, complications in 8%, and mortality in 5%. Participants with viral infections post-HSCT were noted to have a significantly longer length of hospital stay compared to non-HSCT participants, with no other significant differences in clinical course and outcome. The study was limited by its retrospective nature and by the late introduction and underuse of multiplex PCR panels, which may have led to underdiagnosis of viral infections., Conclusions: Viral infections were prevalent in our sample of cancer patients and may have contributed to morbidity and mortality. Newly available viral diagnostics are likely to vastly increase the number and scope of detectable viral infections in this population. Prospective studies using multiplex PCR technology with systematic testing of patients will be more helpful in defining the burden of viral infections. Furthermore, efforts at antimicrobial stewardship would benefit from the identification of viral causes of infection and limit the unnecessary use of antibiotics in the pediatric cancer population., Competing Interests: The authors have declared that no competing interests exist.
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- 2020
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31. Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation.
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Chou J, Alazami AM, Jaber F, Hoyos-Bachiloglu R, Jones J, Weeks S, Alosaimi MF, Bainter W, Cangemi B, Badran YR, Mohammed R, Alroqi F, Almutairi A, Al-Onazi N, AlAjaji S, Al-Saud B, Arnaout R, Elkins M, Devana S, Imperial J, Li B, Drexhage L, Abdel Rahman AM, Jacob M, Haddad H, Hanna-Wakim R, Dbaibo G, Massaad MJ, Dasouki M, Mikhael R, Baz Z, Geha RS, and Al-Mousa H
- Subjects
- Adenylate Kinase immunology, Adult, Amino Acid Substitution, Child, Child, Preschool, Female, Humans, Male, Severe Combined Immunodeficiency immunology, T-Lymphocytes immunology, Adenylate Kinase genetics, B-Lymphocytes immunology, Homozygote, Lymphocyte Activation genetics, Mutation, Missense, Severe Combined Immunodeficiency genetics
- Abstract
Background: The gene AK2 encodes the phosphotransferase adenylate kinase 2 (AK2). Human variants in AK2 cause reticular dysgenesis, a severe combined immunodeficiency with agranulocytosis, lymphopenia, and sensorineural deafness that requires hematopoietic stem cell transplantation for survival., Objective: We investigated the mechanisms underlying recurrent sinopulmonary infections and hypogammaglobulinemia in 15 patients, ranging from 3 to 34 years of age, from 9 kindreds. Only 2 patients, both of whom had mildly impaired T-cell proliferation, each had a single clinically significant opportunistic infection., Methods: Patient cells were studied with next-generation DNA sequencing, tandem mass spectrometry, and assays of lymphocyte and mitochondrial function., Results: We identified 2 different homozygous variants in AK2. AK2
G100S and AK2A182D permit residual protein expression, enzymatic activity, and normal numbers of neutrophils and lymphocytes. All but 1 patient had intact hearing. The patients' B cells had severely impaired proliferation and in vitro immunoglobulin secretion. With activation, the patients' B cells exhibited defective mitochondrial respiration and impaired regulation of mitochondrial membrane potential and quality. Although activated T cells from the patients with opportunistic infections demonstrated impaired mitochondrial function, the mitochondrial quality in T cells was preserved. Consistent with the capacity of activated T cells to utilize nonmitochondrial metabolism, these findings revealed a less strict cellular dependence of T-cell function on AK2 activity. Chemical inhibition of ATP synthesis in control T and B cells similarly demonstrated the greater dependency of B cells on mitochondrial function., Conclusions: Our patients demonstrate the in vivo sequelae of the cell-specific requirements for the functions of AK2 and mitochondria, particularly in B-cell activation and antibody production., (Copyright © 2019. Published by Elsevier Inc.)- Published
- 2020
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32. DNMT3B deficiency presenting as severe combined immune deficiency: A case report.
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Mehawej C, Khalife H, Hanna-Wakim R, Dbaibo G, and Farra C
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- Female, Humans, Infant, Male, Mutation genetics, DNA Methyltransferase 3B, DNA (Cytosine-5-)-Methyltransferases deficiency, Severe Combined Immunodeficiency genetics
- Abstract
Immunodeficiency, Centromeric instability and Facial anomalies (ICF) syndrome is a group of rare autosomal recessive disorders. The immune disease in the ICF syndrome consists mainly of humoral immunodeficiency. T-cell dysfunction has previously been suspected to be part of the syndrome's spectrum. However, patients with ICF display, at a young age, a normal number of T cells that tend to decline throughout disease progression due to apoptosis. Biallelic mutations in the DNMT3B gene account for around 50% of ICF cases (ICF type 1). The remaining half may be linked to ZBTB24, CDCA7 or HELLS. Here we report a novel homozygous DNMT3B mutation (NM_ 006892; p.R826H) in a Lebanese family presenting in early infancy with severe combined immune deficiency (SCID). This work expands the clinical spectrum of the ICF syndrome and confirms the importance of tailoring therapeutic approaches for each patient with ICF syndrome, according to the clinical manifestations of his disease., Competing Interests: Declaration of Competing Interest None., (Copyright © 2020 Elsevier Inc. All rights reserved.)
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- 2020
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33. The burden of laboratory-confirmed influenza infection in Lebanon between 2008 and 2016: a single tertiary care center experience.
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Assaf-Casals A, Saleh Z, Khafaja S, Fayad D, Ezzeddine H, Saleh M, Chamseddine S, Sayegh R, Sharara SL, Chmaisse A, Kanj SS, Kanafani Z, Hanna-Wakim R, Araj GF, Mahfouz R, Saito R, Suzuki H, Zaraket H, and Dbaibo GS
- Subjects
- Adolescent, Adult, Aged, Antiviral Agents therapeutic use, Child, Child, Preschool, Coinfection complications, Coinfection drug therapy, Female, Hospitalization, Humans, Infant, Infant, Newborn, Influenza A Virus, H1N1 Subtype immunology, Influenza B virus immunology, Influenza, Human complications, Influenza, Human drug therapy, Lebanon epidemiology, Male, Middle Aged, Morbidity, Pneumonia etiology, Retrospective Studies, Tertiary Care Centers, Young Adult, Coinfection diagnosis, Coinfection epidemiology, Influenza A Virus, H1N1 Subtype genetics, Influenza B virus genetics, Influenza, Human diagnosis, Influenza, Human epidemiology, Pandemics
- Abstract
Background: Influenza is a major cause of morbidity and mortality worldwide. Following the 2009 pandemic, there was widened interest in studying influenza burden in all regions. However, since data from the World Health Organization (WHO) Middle East and North Africa (MENA) region remain limited, we aimed to contribute to the understanding of influenza burden in Lebanon., Methods: A retrospective chart review extending over a period of 8 seasons from Jan 1st, 2008 till June 30th, 2016 at a tertiary care center in Beirut was performed. All cases confirmed to have influenza based on rapid antigen detection or/and polymerase chain reaction on a respiratory sample were included for analysis. Data on epidemiology, clinical presentation, complications, antiviral use and mortality were collected for analysis., Results: A total of 1829 cases of laboratory-confirmed influenza were identified. Average annual positivity rate was 14% (positive tests over total requested). Both influenza A and B co-circulated in each season with predominance of influenza A. Influenza virus started circulating in December and peaked in January and February. The age group of 19-50 years accounted for the largest proportion of cases (22.5%) followed by the age group of 5-19 years (18%). Pneumonia was the most common complication reported in 33% of cases. Mortality reached 3.8%. The two extremes of age (< 2 years and ≥ 65 years) were associated with a more severe course of disease, hospitalization, intensive care unit (ICU) admission, complications, and mortality rate. Of all the identified cases, 26% were hospitalized. Moderate-to-severe disease was more likely in influenza B cases but no difference in mortality was reported between the two types. Antivirals were prescribed in 68.8% and antibiotics in 41% of cases. There seemed to be an increasing trend in the number of diagnosed and hospitalized cases over the years of the study., Conclusion: Patients with laboratory-confirmed influenza at our center had a high rate of hospitalization and mortality. A population based prospective surveillance study is needed to better estimate the burden of Influenza in Lebanon that would help formulate a policy on influenza control.
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- 2020
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34. Splenoptosis in young female, case report.
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El-Helou E, Alimoradi M, Sabra H, Naccour J, Zaarour M, Chebli FA, Wakim R, and Haddad MM
- Abstract
Background: Splenoptosis is an uncommon disorder defined as the dislodgment of the spleen from its anatomical location in the left hypochondrium to another location in the intraabdominal cavity. This migration is the result of laxity or absence of the ligaments that fix the spleen to surrounding structures. Splenoptosis is either diagnosed after it causes symptoms, or incidentally using different imaging modalities. Surgery is the definite treatment either by splenopexy or splenectomy., Case Presentation: In the case presented here, we discuss a 17 years old female patient who presented to our institution for acute onset of abdominal pain, mainly suprapubic, occurring for 4 days. Ultrasound showed a suspicious right pelvic mass, which was found to be a wandering spleen with pedicle torsion. The patient was treated surgically by splenectomy., Conclusion: We report this rare case to encourage physicians to keep this etiology in mind as part of the differential diagnosis of unspecific abdominal pain., (Copyright © 2020 The Authors. Published by Elsevier Ltd.. All rights reserved.)
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- 2020
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35. A non-klatskin tumor: A case report and review of intrabiliary hydatid cyst rupture.
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Alimoradi M, El-Helou E, Sabra H, Hani P, and Wakim R
- Abstract
Introduction: A 64-year-old lady was diagnosed with having a klatskin type 3A tumor based on imaging, however, an alternative diagnosis was achieved during surgery., Presentation of Case: We present a case of a 64-year-old lady who presented for new-onset jaundice and was diagnosed with type 3A klatskin tumor based on MRCP findings. During surgery, it was revealed that the obstruction was caused by a frank intrabiliary hydatid cyst perforation. Choledocoscopy with irrigation, cholangiography, and removal of the mother cyst were performed, and an end-to-end biliary anastomosis over a t-tube was then done. The patient tolerated the intervention and recovered well., Discussion: Hydatid cyst disease of the liver usually follows a benign course, however, intrabiliary rupture is one of the common complications associated with this disease. Intrabiliary rupture is classified into either frank or occult. Frank perforation, which is more common, is when hydatid material passes into the biliary ducts, and it may cause biliary obstruction and cholangitis with a high mortality rate. Occult perforation is when the hydatid cyst becomes infected itself, which usually leads to a silent presentation, and may only cause signs of suppuration. Diagnosis is usually achieved by imaging and relevant history. Treatment consists of medical and surgical intervention. Intraoperative cholangiography, choledocoscopy, and t-tube drainage are recommended during surgery for frank rupture., Conclusion: Intrabiliary hydatid cyst perforation can mimic cholangiocarcinoma and must be considered as an alternative diagnosis in these patients prior to surgery., (Copyright © 2020 The Authors. Published by Elsevier Ltd.. All rights reserved.)
- Published
- 2020
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36. A young child with HIV and unsteady gait: A case report.
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Yazbeck N, Youssef Y, and Hanna-Wakim R
- Abstract
Background: We would like to raise awareness about the toxicities related to the added excipients present in the oral solution of Liponavir/ritonavir in particular alcohol and propylene glycol., Case Presentation: In this case report, we describe an 18 month-old child with a newly diagnosed HIV infection on antiretroviral therapy (ART). She developed shortly after starting the ART unsteady gait and imbalance., Conclusions: The excipient-excipient interaction in Lopinavir/ritonavir may contribute to major toxicities not only in premature neonates and infants; but also in older children specifically from Asian ethnicity., Competing Interests: None., (© 2019 The Author(s).)
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- 2019
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37. Viral Etiology of Acute Respiratory Infections in Pediatric Patients in Lebanon.
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Masoud K, Hanna-Wakim R, Zaraket H, Kharroubi S, Araj GF, Matar GM, and Dbaibo G
- Abstract
Background: Acute respiratory infections (ARI) are the leading cause of death worldwide, especially among children. The majority of these infections in children are of viral etiology. In this study, we evaluated the incidence of viral ARI among children in Lebanon., Patients and Methods: Children presenting with symptoms of ARI were prospectively recruited between September 2009 to February 2012. Nasopharyngeal aspirates were obtained from patients and screened for 11 respiratory viruses using a multiplex Luminex-based PCR assay., Results: Two hundred twenty-one patients were recruited with a median age of 1 year (IQR: 0 - 5). Out of 221 patients, 116 (52.5%) were positive for at least one virus, the majority (103/116; 88.8%) of which were in children under 6-year of age. Overall, 188 viruses were detected. Rhinovirus (RhV) was the most common virus detected in 81 (69.8%) patients followed by coxsackie virus and echovirus (CVEV) which were detected as one target in the panel in 45 (38.8%), and parainfluenza viruses (PIV types: 1, 2, 3, 4) in 24 (20.7%) patients. Coinfection with more than one virus was detected in 49 (42.9%) patients. RhV and CVEV were the most common viruses associated with co-infections and higher risk of rhinorrhea., Conclusions: Viral pathogens account for at least half of the ARIs in Lebanon, with a high frequency of co-infections being detected., Competing Interests: Competing interests: The authors declare no conflict of Interest.
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- 2019
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38. Bronchiolitis Admissions in a Lebanese Tertiary Medical Center: A 10 Years' Experience.
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Naja Z, Fayad D, Khafaja S, Chamseddine S, Dbaibo G, and Hanna-Wakim R
- Abstract
Bronchiolitis and more specifically respiratory syncytial virus (RSV) bronchiolitis is a leading cause of global childhood morbidity and mortality. Despite the previous identification of possible risk factors associated with the severity of bronchiolitis, the data from Lebanon remains limited. We described the burden of bronchiolitis hospitalizations in children under 5 years of age in a tertiary care center in Lebanon from October 2004 to October 2014 and identified the risk factors associated with severe bronchiolitis. This was a retrospective cohort study conducted at the American University of Beirut Medical Center. Records of children younger than 5 years of age admitted with a diagnosis of bronchiolitis were reviewed. More than half the patients were RSV positive. RSV bronchiolitis was found to be significantly associated with longer hospital stay compared to children with non-RSV bronchiolitis ( P = 0.007). Children exposed to smoking had an increased risk for longer hospital stay ( P = 0.002) and were more likely to require ICU admission ( P < 0.001) and supplemental oxygen ( P = 0.045). Congenital heart disease was found to be a significant risk factor for severe bronchiolitis ( P < 0.005). Conclusion: Patients with RSV bronchiolitis had a longer hospital stay compared to patients with non-RSV bronchiolitis. Exposure to smoking was associated with a more severe and complicated RSV infection. Congenital heart disease was the only risk factor significantly associated with all markers of bronchiolitis disease severity.
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- 2019
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39. X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world.
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El-Sayed ZA, Abramova I, Aldave JC, Al-Herz W, Bezrodnik L, Boukari R, Bousfiha AA, Cancrini C, Condino-Neto A, Dbaibo G, Derfalvi B, Dogu F, Edgar JDM, Eley B, El-Owaidy RH, Espinosa-Padilla SE, Galal N, Haerynck F, Hanna-Wakim R, Hossny E, Ikinciogullari A, Kamal E, Kanegane H, Kechout N, Lau YL, Morio T, Moschese V, Neves JF, Ouederni M, Paganelli R, Paris K, Pignata C, Plebani A, Qamar FN, Qureshi S, Radhakrishnan N, Rezaei N, Rosario N, Routes J, Sanchez B, Sediva A, Seppanen MR, Serrano EG, Shcherbina A, Singh S, Siniah S, Spadaro G, Tang M, Vinet AM, Volokha A, and Sullivan KE
- Abstract
Background: X-linked agammaglobulinemia is an inherited immunodeficiency recognized since 1952. In spite of seven decades of experience, there is still a limited understanding of regional differences in presentation and complications. This study was designed by the Primary Immunodeficiencies Committee of the World Allergy Organization to better understand regional needs, challenges and unique patient features., Methods: A survey instrument was designed by the Primary Immunodeficiencies Committee of the World Allergy Organization to collect both structured and semi-structured data on X-linked agammaglobulinemia. The survey was sent to 54 centers around the world chosen on the basis of World Allergy Organization participation and/or registration in the European Society for Immunodeficiencies. There were 40 centers that responded, comprising 32 countries., Results: This study reports on 783 patients from 40 centers around the world. Problems with diagnosis are highlighted by the reported delays in diagnosis>24 months in 34% of patients and the lack of genetic studies in 39% of centers Two infections exhibited regional variation. Vaccine-associated paralytic poliomyelitis was seen only in countries with live polio vaccination and two centers reported mycobacteria. High rates of morbidity were reported. Acute and chronic lung diseases accounted for 41% of the deaths. Unusual complications such as inflammatory bowel disease and large granular lymphocyte disease, among others were specifically enumerated, and while individually uncommon, they were collectively seen in 20.3% of patients. These data suggest that a broad range of both inflammatory, infectious, and autoimmune conditions can occur in patients. The breadth of complications and lack of data on management subsequently appeared as a significant challenge reported by centers. Survival above 20 years of age was lowest in Africa (22%) and reached above 70% in Australia, Europe and the Americas. Centers were asked to report their challenges and responses (n = 116) emphasized the difficulties in access to immunoglobulin products (16%) and reflected the ongoing need for education of both patients and referring physicians., Conclusions: This is the largest study of patients with X-linked agammaglobulinemia and emphasizes the continued morbidity and mortality of XLA despite progress in diagnosis and treatment. It presents a world view of the successes and challenges for patients and physicians alike. A pivotal finding is the need for education of physicians regarding typical symptoms suggesting a possible diagnosis of X-linked agammaglobulinemia and sharing of best practices for the less common complications.
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- 2019
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40. Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency.
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Lehle AS, Farin HF, Marquardt B, Michels BE, Magg T, Li Y, Liu Y, Ghalandary M, Lammens K, Hollizeck S, Rohlfs M, Hauck F, Conca R, Walz C, Weiss B, Lev A, Simon AJ, Groß O, Gaidt MM, Hornung V, Clevers H, Yazbeck N, Hanna-Wakim R, Shouval DS, Warner N, Somech R, Muise AM, Snapper SB, Bufler P, Koletzko S, Klein C, and Kotlarz D
- Subjects
- Age of Onset, Animals, Apoptosis, Autoimmune Lymphoproliferative Syndrome therapy, Biopsy, Colitis, Ulcerative pathology, Colitis, Ulcerative therapy, Endoscopy, Gastrointestinal, Epithelial Cells pathology, Genetic Predisposition to Disease, Heredity, Humans, Inflammasomes immunology, Inflammation Mediators immunology, Intestines pathology, Lymphocytes pathology, Mice, Knockout, Mutation, Phenotype, Autoimmune Lymphoproliferative Syndrome genetics, Autoimmune Lymphoproliferative Syndrome immunology, Caspase 8 genetics, Colitis, Ulcerative genetics, Colitis, Ulcerative immunology, Epithelial Cells immunology, Intestines immunology, Lymphocytes immunology
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- 2019
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41. A Rare Case of a Ruptured Metastatic Hepatic Lesion from a Jejunal Gastrointestinal Stromal Tumor (GIST) Treated by Arterial Embolization.
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Salame H, Issa M, Nicolas G, Haddad J, Haddad MM, Farhat FS, Moubarak H, Kfoury T, Zaghrini E, and Wakim R
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- Aged, Humans, Liver Neoplasms secondary, Male, Embolization, Therapeutic, Gastrointestinal Stromal Tumors pathology, Gastrointestinal Stromal Tumors therapy, Jejunal Neoplasms pathology, Liver Neoplasms therapy, Rupture, Spontaneous therapy
- Abstract
BACKGROUND Gastrointestinal stromal tumors (GISTs) are rare gastrointestinal neoplasms. The spontaneous rupture of a jejunal GIST is very rare and spontaneous rupture of liver metastasis from an intestinal GIST is even rarer with only a few cases reported in the literature. CASE REPORT In this article, we reported a case of spontaneous rupture of a liver metastasis from a malignant jejunal GIST that presented with active tumoral bleeding, hypovolemic shock, and hemoperitoneum. The patient was successfully treated with arterial embolization of the tumor. CONCLUSIONS In appropriately selected patients, arterial embolization appears to be an effective safe treatment for a GIST metastasis rupture.
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- 2018
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42. Decontamination of Dental Implant Surfaces by the Er:YAG Laser Beam: A Comparative in Vitro Study of Various Protocols.
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Nejem Wakim R, Namour M, Nguyen HV, Peremans A, Zeinoun T, Vanheusden A, Rompen E, and Nammour S
- Abstract
Oral rehabilitation with dental implants has revolutionized the field of dentistry and has been proven to be an effective procedure. However, the incidence of peri-implantitis has become an emerging concern. The efficacy of the decontamination of the implant surface, by means of lasers, is still controversial. Previous studies have revealed a reduction in osteoblast adhesion to carbon-contaminated implant surfaces. This in-vitro study aimed to evaluate the decontamination of failed implants by assessing the carbon proportion, after irradiation by low-energy erbium yttrium-aluminum-garnet laser (Er:YAG) (Fotona; 2940 nm, Ljubljana, Slovenia) for a single and for multiple passages, until getting a surface, free of organic matters; to find the appropriate procedure for dental-implant surface-decontamination. Ninety implants were used. Thirty sterile implants were kept as a negative control. Thirty failed implants were irradiated by the Er:YAG laser, for a single passage, and the other thirty, for multiple passages. The parameters used in our experiments were an irradiation energy of 50 mJ, frequency of 30 Hz, and an energy density of 3.76 J/cm². A sapphire tip, with a length of 8 mm, was used with concomitant water spray irrigation, under air 6 and water spray 4. Super short pulse mode (SSP) was of 50 μs; irradiation speed being 2 mm/s. We used energy-dispersive X-ray spectroscopy (EDX) to evaluate the carbon proportion on the surfaces of the sterile implants, the contaminated, and the lased implants, with one (LX1) and with three passages (LX3). Statistical analysis was performed by ANOVA. Results showed mean difference between the three groups (contaminated, LX1, and LX3) with p < 0.0001, as between LX1 and Group A ( p < 0.0001), while the difference between LX3 and the control group was not statistically significant. The decontamination of the implant surfaces with a low-energy Er:YAG laser with three passages, appeared to be an encouraging approach.
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- 2018
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43. Weight Regain After Sleeve Gastrectomy: A Look at the Benefits of Re-sleeve.
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Saliba C, El Rayes J, Diab S, Nicolas G, and Wakim R
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Introduction Laparoscopic sleeve gastrectomy (LSG) has become one of the most commonly performed weight loss procedures due to its simpler technique and lower complication rate as compared to the Roux-en-Y gastric bypass and duodenal switch. However, weight regain is seen in patients with a large gastric fundus. In these cases, a revision laparoscopic sleeve gastrectomy (reLSG) aiming at resecting the excess pouch is a promising option for correction. Methods From April 2013 to March 2016, six patients underwent a reLSG for a failure of weight loss after the demonstration of a large gastric fundus on the upper gastrointestinal (UGI) series. Results One patient out of six (16.7%) suffered from a gastric leak and was lost to subsequent follow-up. The rest (83.3%) had a smooth recovery and were followed up for a mean of 18 months. Mean excess weight loss (EWL) was 68%, with a minimum of 48% and a maximum of 75%. Conclusion reLSG is a promising option for failed weight loss after LSG in patients who demonstrate the presence of a large gastric pouch. It carries a higher complication rate than the initial procedure. Further trials and meta-analyses are needed to prove the efficacy of this procedure., Competing Interests: The authors have declared that no competing interests exist.
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- 2018
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44. Periampullary Neuroendocrine Tumor as a Cause of Acute Pancreatitis.
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Nicolas G, Nasser H, Haddad J, Zaghrini E, Daher K, Nasser AA, Saliba C, Gharios N, and Wakim R
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- Acute Disease, Carcinoid Tumor complications, Carcinoid Tumor surgery, Duodenal Neoplasms complications, Duodenal Neoplasms surgery, Humans, Male, Middle Aged, Pancreatitis diagnosis, Ampulla of Vater, Carcinoid Tumor diagnosis, Duodenal Neoplasms diagnosis, Pancreatitis etiology
- Abstract
BACKGROUND Duodenal and ampullary carcinoids are very rare tumors accounting respectively for 2% and 0.03% of all carcinoid tumors. Clinical findings vary according to the location of the tumor within the periampullary region; with epigastric pain being the most common presenting symptom in duodenal carcinoids and jaundice the most common clinical finding in ampullary carcinoids. Treatment options include pancreaticoduodenectomy, local excision, and endoscopic excision. CASE REPORT In this case report, we present a 60-year-old male who presented with a one-week history of intractable epigastric pain. He was diagnosed with duodenal periampullary carcinoid tumor and treated with local excision. CONCLUSIONS Although duodenal and ampullary carcinoid tumors may have different clinical presentations, as well as histochemistry characteristics and metastatic potential, they appear to benefit from the same surgical treatment.
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- 2018
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45. Increase of blaOXA-23-like in Acinetobacter baumannii at a tertiary care center in Lebanon between 2007 and 2013.
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Kanj SS, Tayyar R, Shehab M, El-Hafi B, Rasheed SS, Kissoyan KA, Kanafani ZA, Hanna Wakim R, Kara Zahreddine N, Araj GF, Dbaibo G, and Matar GM
- Abstract
Introduction: The multi-drug resistant nature of Acinetobacter baumannii isolates have rendered many broad-spectrum antimicrobial agents ineffective against them. The purpose of this retrospective study is to define and compare the molecular characteristics of A. baumannii isolates from patients at a tertiary care center in Lebanon from two outbreaks, the first in 2007-2008, as part of a case-controlled study involving A. baumannii cases admitted to the ICU, and the second in 2013., Methodology: A total of 148 A. baumannii clinical isolates were collected from various clinical specimens during 2007-2008 and 2013. All A. baumannii isolates were screened for blaOXA-23-like and blaOXA-51-like genes of carbapenem resistance. Additionally, in an effort to assess the degree of the isolates' genomic relatedness, random amplification of polymorphic DNA (RAPD) was performed., Results: There was an increase in the prevalence of blaOXA-23-like and blaOXA-51-like genes between the two time periods; however, only 22% isolate genomic relatedness was calculated between 2007-2008 and 2013. Taking 80% as a margin of compatibility, 31 distinct clusters containing 2 to 11 strains were observed when both time periods were analyzed., Conclusion: The presence of numerous clusters accompanied by a predominant increase in the prevalence of blaOXA-23-like between 2007 and 2013 suggests a horizontal transmission of the gene within various strains of the species, contributing to the persistent increase in carbapenem resistance over the years. Therefore, infection control measures are required with compliance among all healthcare workers.
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- 2018
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46. Questionnaire-based survey in a developing country showing noncompliance with paediatric gastro-oesophageal reflux practice guidelines.
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Manasfi H, Hanna-Wakim R, Akel I, and Yazbeck N
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- Adult, Disease Management, Humans, Lebanon, Middle Aged, Pediatrics standards, Practice Guidelines as Topic, Surveys and Questionnaires, Gastroesophageal Reflux therapy, Guideline Adherence statistics & numerical data, Pediatrics statistics & numerical data
- Abstract
Aim: This 2015 study investigated whether Lebanese paediatricians diagnosed and managed gastro-oesophageal reflux disease (GERD) in infants and children in accordance with the 2009 guidelines from the North American and European Societies for Paediatric Gastroenterology, Hepatology and Nutrition., Methods: Paediatricians members of the Lebanese Order of Physicians with updated email addresses were invited to complete a web-based survey between September and November 2015, to assess their knowledge and management of GERD., Results: Responses were received from 114 of the 543 paediatricians, and 96 were analysed. Only two respondents complied fully with the international guidelines. The majority diagnosed GERD in infants based solely on their medical history and examination. Moreover, nearly two-thirds of the respondents would start an empiric trial with acid suppression. Around half of the respondents considered proton pump inhibitors to be the mainstay of GERD treatment., Conclusion: This was the first Lebanese study that surveyed the management of paediatric GERD. Only 2.1% of the paediatricians followed the guidelines on the evidence-based management of GERD. This highlights the need for studies to assess barriers to guideline implementation and the development of new guidelines accounting for regional factors, mainly the cost of investigations and prevalence of medical insurance., (©2016 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.)
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- 2017
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47. Geographic Variations in Incremental Costs of Heart Disease Among Medicare Beneficiaries, by Type of Service, 2012.
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Wakim R, Ritchey M, Hockenberry J, and Casper M
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- Aged, Aged, 80 and over, Centers for Medicare and Medicaid Services, U.S., Cost of Illness, Databases, Factual, Female, Geography, Humans, Male, United States, Fee-for-Service Plans statistics & numerical data, Health Expenditures statistics & numerical data, Heart Diseases epidemiology, Heart Diseases therapy, Medicare
- Abstract
Using 2012 data on fee-for-service Medicare claims, we documented regional and county variation in incremental standardized costs of heart disease (ie, comparing costs between beneficiaries with heart disease and beneficiaries without heart disease) by type of service (eg, inpatient, outpatient, post-acute care). Absolute incremental total costs varied by region. Although the largest absolute incremental total costs of heart disease were concentrated in southern and Appalachian counties, geographic patterns of costs varied by type of service. These data can be used to inform development of policies and payment models that address the observed geographic disparities.
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- 2016
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48. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
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Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, and Notarangelo LD
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- 2016
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49. Diagnosis and Treatment of Small Bowel Strangulation Due To Congenital Band: Three Cases of Congenital Band in Adults Lacking a History of Trauma or Surgery.
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Nicolas G, Kfoury T, Shimlati R, Koury E, Tohmeh M, Gharios E, and Wakim R
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- Adolescent, Adult, Humans, Intestinal Obstruction etiology, Laparoscopy, Male, Young Adult, Intestinal Obstruction diagnosis, Intestinal Obstruction surgery, Intestine, Small abnormalities
- Abstract
BACKGROUND Among the causes of constipation are bands and adhesions that lead to obstructions at different points in the intestinal tract. These can occur as a consequence of healing following surgery or trauma. However, an entity known as congenital band exists where a band is present from birth. Here we report three such cases of adults with symptoms of intestinal obstruction, in whom a congenital band was discovered through exploratory laparoscopy. CASE REPORT All three of these patients presented lacking a history of any abdominal trauma or previous abdominal surgeries, a fact that is often used to exclude an adhesion as a differential. All three recovered quickly and had relief of their symptoms following surgical intervention. CONCLUSIONS Bands and adhesions are common surgical causes of small bowel obstruction, leading to symptoms such as nausea, vomiting, constipation, and obstipation. These bands almost always result from a prior abdominal surgery or from a recent abdominal trauma. The three cases presented here show a far more unusual picture of a band, one that is congenitally present, as there was an absence of such a history. This is significant because clinical suspicion of a band is often very low due to a lack of distinguishing clinical and diagnostic features, and when the past history is negative., Competing Interests: Conflicts of Interest: None declared Conflicts of interest No conflicts.
- Published
- 2016
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50. Mutations in pyrin masquerading as a primary immunodeficiency.
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Badran YR, Rajab M, Hanna-Wakim R, Bainter W, Cangemi B, Massaad MJ, Dbaibo G, Geha RS, and Chou J
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- Child, Preschool, Colitis diagnosis, Consanguinity, Diagnosis, Differential, Familial Mediterranean Fever diagnosis, Female, Humans, Immunologic Deficiency Syndromes diagnosis, Infant, Male, Mutation, Colitis genetics, Familial Mediterranean Fever genetics, Immunologic Deficiency Syndromes genetics, Pyrin genetics
- Abstract
Whole exome sequencing is increasingly used in the diagnosis of primary immunodeficiencies due to the overlapping and atypical presentations of these disorders. We report two patients who presented with recurrent infections and early onset colitis. They were investigated by whole exome sequencing due to suspicion of primary immunodeficiency and found to have mutations in pyrin known to cause familial Mediterranean fever., (Copyright © 2016 Elsevier Inc. All rights reserved.)
- Published
- 2016
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