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A letter to the editor is presented on the Bartsocas-Papas syndrome (BPS), a rare autosomal recessive (AR) disorder which causes mental retardation, webbing, oligosyndactyly, and genital abnormalities.

Retention is crucial in orthodontics, aiming to preserve treatment outcomes and enhance patient satisfaction with permanent fixed retainers. However, a removable retainer may be needed with fixed retainers to prevent unwanted changes. An eight-unit extended fixed retainer is proposed to eliminate the need for a removable retainer, addressing the undesired changes associated with six-unit fixed retainers. The impact of extended retainers on periodontium and quality of life remains unexplored. This study evaluates the periodontal response and patient-reported quality of life with an eight-unit maxillary fixed retainer. A single-arm prospective clinical trial with only twenty-eight test group patients (6 males, 22 females) who finished active orthodontic treatment were recruited. The mean age was (19.8 ± 4.5 years). This research was approved by the institutional review board of the Faculty of Dentistry, Alexandria University (IORG:0008839, No-0479-8/2022). The registration date of this study was (5/06/2023). An eight-unit maxillary fixed retainer was bonded to the palatal surface of the maxillary incisors, canines, and first or second premolars directly after debonding the brackets. The periodontal assessment and quality of life were carried out through clinical examination and valid questionnaires and the patients were followed up for 12 months. The periodontal response improved significantly at 1-year follow-up. The Probing depth, Gingival index, Plaque index, Bleeding index, and mobility index were significantly lower in these patients. Quality of life was assessed by the OHIP-14. The mean score decreased by -1.86 (SD = 4.19), and the acceptance of the orthodontic appliance scale score increased by 0.68 (SD = 0.86), which was significant with a p-value < 0.001. For 12 months of follow-up, an eight-unit maxillary retainer did not adversely affect the periodontal ligaments. meets patients' expectations and maintains a high quality of life., Competing Interests: Declarations. Competing interests: The authors declare no competing interests. Ethics approval and consent to participate and publication: This research was approved by the institutional review board of the Faculty of Dentistry, Alexandria University (IRB:00010556–IORG:0008839). Informed consent was obtained from all the subjects or legal guardians if the subjects were under 18 years old. Consent for publication: Consent for publication had been obtained for all cases., (© 2025. The Author(s).)

Objective: The purpose of this study was to improve our understanding of severe serine biosynthesis defects through a comprehensive description of prenatal, and postnatal manifestations and the mutational spectrum in a new cohort of 12 unrelated Egyptian Families., Methods: Detailed fetal ultrasound examination, postnatal assessment, and whole exome sequencing (WES) were performed in a cohort of 12 fetuses with suspected Neu-Laxova syndrome (NLS), the most severe expression of serine biosynthesis defects. Additionally, a comprehensive review of the literature was conducted by merging the data from all the molecularly-confirmed cases with ours to gain a better understanding of the clinical variability of NLS., Results: Novel clinical manifestations including intrauterine convulsions, hemivertebrae, natal teeth, holoprosencephaly, and rhombencephalosynapsis were observed. Molecular analysis identified 7 and 2 likely disease-causing variants in the PSAT1 and PHGDH genes, respectively. Four of them were novel, including the c.734G>A missense variant in PSAT1, which has been proposed to be a founder variant among Egyptians., Conclusion: The present cohort expands the spectrum of serine biosynthesis disorders. Moreover, it illuminates the role of prenatal exome sequencing in lethal conditions constituting the most severe end of already-known human diseases., (© 2024 John Wiley & Sons Ltd.)

To evaluate the diagnostic yield of prenatal exome sequencing (pES) in fetuses with structural anomalies detected by prenatal ultrasound in a consanguineous population. This was a prospective study of 244 anomalous fetuses from unrelated consanguineous Egyptian families. Detailed phenotyping was performed throughout pregnancy and postnatally, and pES data analysis was conducted. Genetic variants were prioritized based on the correlation of their corresponding human phenotype ontology terms with the ultrasound findings. Analyses were carried out to determine the diagnostic efficiency of pES and its correlation to the organ systems involved. The largest clinical category of fetuses referred for pES was those manifesting multisystem anomalies (104/244, 42.6%). pES provided a definitive diagnosis explaining the fetal anomalies in 47.1% (115/244) of the cases, with the identification of 122 pathogenic or likely pathogenic variants completely fitting with the phenotype. Variants of uncertain significance associated with the fetal phenotypes were detected in 84 fetuses (34%), while 18.44% (45/244) had negative results. Positive consanguinity is associated with a high diagnostic yield of ES. The novel variants and new fetal manifestations, described in our cohort, further expand the mutational and phenotypic spectrum of a wide variety of genetic disorders presenting with congenital malformations., (© 2025 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Purpose: To assess the knowledge, practice, and concerns about the Hall Technique among pediatric dentists (PDs) and general dental practitioners (GDPs) working in primary care settings in the State of Qatar., Methods: A prospective questionnaire-based survey was distributed to all GDPs and PDs working at different Primary Health Care Corporation centers in Qatar between 1 November and 10 December 2023. Descriptive data analysis was carried out., Results: The response rate was 49% among GPDs and 100% among PDs. Approximately 85% of PDs and 48% of GDPs were familiar with the HT although only 58% of the PDs and 4% of the GDPs applied HT preformed metal crowns (HTPMCs) in their current primary care practice. Majority of both PDs and GDPs did not consider HTPMCs as the treatment of choice for restoring asymptomatic carious primary molars and preferred applying the HT for cavitated carious lesions over non-cavitated lesions. Regarding HT practices, 57.7% of PDs and 48% of GDPs always planned on taking a pre-operative radiograph before the procedure, while only 15.4% of PDs and 8% of GDPs would always consider using an orthodontic separator prior to placing an HTPMC. The main concerns among the respondents about the HT included sealing in caries (PDs 31%; GDPs 50%), high occlusion (PDs 57.7%; GDPs 53.3%), and gingival damage (27% PDs; 47% GDPs.) Endorsement by professional bodies and further research evidence were seen as ways to promote wider adoption of the HT., Conclusion: The HT is recognised but not widely used among primary care dentists working in the State of Qatar. HTPMCs are often seen as secondary options for restoring carious primary molars with dentists still having a number of concerns regarding the HT., Competing Interests: Declarations Conflict of interest The authors have no relevant financial or non-financial interests to disclose. Ethical approval The present project was approved by PHCC Research Committee of Clinical Research and Ethics (Buhooth-D-23-00074). Consent to participate Written formal informed consent was obtained from all survey participants., (© 2024. The Author(s).)

Background: Acromesomelic chondrodysplasias are a rare subgroup of the clinically and genetically heterogeneous osteochondrodysplasias that are characterised by abnormalities in the limb development and short stature. Here, we report a 2-year-old boy, offspring of consanguineous parents, with acromesomelic dysplasia and postaxial polydactyly in which exome sequencing identified a novel homozygous missense variant in BMPR1B. The patient showed skeletal malformation of both hands and feet that included complex brachydactyly with the thumbs most severely affected, postaxial polydactyly of both hands, shortened toes as well as a bilateral hypoplasia of the fibula., Methods: Whole trio exome sequencing was conducted to identify potential genetic variants in the patient., Results: The analysis identified the biallelic variant NM&#95;001203.3:c.821A > G;p.(Gln274Arg) in BMPR1B, a gene encoding bone morphogenetic protein receptor 1B., Conclusion: The skeletal phenotype can be brought in line with the phenotypes of previously reported cases of BMPR1B-associated chondrodysplasias. However, the postaxial polydactyly described here is a novel clinical finding in a BMPR1B-related case; notably, it has previously been reported in other acromesomelic dysplasia cases caused by homozygous pathogenic variants in GDF5-a gene which encodes for growth differentiation factor 5, a high-affinity ligand to BMPR1B., (© 2024 The Author(s). Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Dysphagia, characterized by abnormal swallowing, presents as oropharyngeal or esophageal dysphagia. Dysphagia aortica, a rare manifestation, results from external aortic compression, leading to swallowing difficulties. Limited literature exists on this condition. We report a 22-year-old male with a complex surgical history, including aortic repairs, who presented with dysphagia and chest pain. Extensive evaluations ruled out other causes. Imaging revealed esophageal compression by an aortic graft. Endoscopy confirmed extrinsic compression. A barium swallow study was unremarkable. A diagnosis of dysphagia aortica was made, and conservative treatment was initiated. Dysphagia aortica remains a rare but noteworthy cause of dysphagia with this case highlighting the importance of considering vascular compression in patients with previous history of aortic surgery. Increased clinical awareness is essential for timely diagnosis and tailored treatment strategies. Further research is needed to establish guidelines for managing this condition, given its diverse causes., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

A hypertensive crisis is defined as a sudden and significant rise in blood pressure. The blood pressure reading is 180/120 mmHg or higher. A hypertensive crisis is a medical emergency. It can lead to a heart attack, stroke, or other life-threatening medical problems. Investigating the management of the hypertensive crisis was the goal of this study. English-language articles were collected from 2010 to 2024 demonstrating the management of the hypertensive crisis. Overall, there were 15 articles. Surveys and analyses of national databases were the most widely used methods (n=15). The scientific studies documented (1) all investigative studies or reports that included a hypertensive crisis diagnosis, (2) data integrity and reproducibility, and (3) management studies. Other studies show that acute severe hypertension in the hospital is associated with high rates of mortality and morbidity, particularly with new or worsening end-organ damage. The problem is linked to poor medical adherence, but alarmingly low follow-up rates are likely to contribute to a high recurrence rate. The treatment of acute severe hypertension varies according to the hospital unit (medical ward or intensive care unit), medication, and blood pressure targets or thresholds. Because of a lack of evidence-based guidance, arbitrary blood pressure control targets are used, or blood pressure targets are crudely extrapolated from guidelines intended primarily for outpatient management. Patients with acute aortic dissection need to be administered intravenous esmolol within 5 to 10 minutes in order to lower their blood pressure right away. The goal is to maintain a systolic reading of less than 120 mm Hg. Vasodilators such as nitroglycerin or nitroprusside may be administered if the blood pressure persists following beta blocking. Intravenous administration of clevidipine, nicardipine, or phentolamine is required; the initial dose is 5 mg, with subsequent doses given every 10 minutes as necessary to achieve the desired reduction in blood pressure., Competing Interests: Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Khan et al.)

Background: Posttreatment changes after orthodontic treatment are challenging. One of the main reasons for such a phenomenon is the lack of patient compliance with removable retainers especially in the maxillary arch, due to palatal coverage, deterioration of speech, decreased masticatory efficiency, and loss of retainers. Fixed retainers have been introduced to overcome patient compliance and provide longer stable results. However, teeth still show movements when a six-unit fixed retainer is in place. Thus, in this study, an eight-unit fixed retainer was evaluated in an attempt to eliminate unwanted movements. THE AIM OF THIS RESEARCH: was to assess short-term positional changes associated with an eight-unit extended maxillary fixed retainer., Materials and Methods: A single-arm clinical trial was conducted to address the aim of the study. This research was approved by the institutional review board of the Faculty of Dentistry, Alexandria University (IORG:0008839, No-0479-8/2022). The registration date of this study was 5/06/2023. Twenty-eight patients (19.8 ± 4.5 years) who had finished the active orthodontic phase and started retention had an eight-unit extended maxillary fixed retainer that was bonded to the palatal surface of the maxillary incisors, canines, and the first premolars or the second premolars. Pre-retention and one-year post-retention intra-oral scans were made to produce STL files that were superimposed to determine the amount of tooth change. Additionally, analysis of digital casts and lateral cephalometric radiographs was performed., Results: Statistically significant changes in all planes and the rotation of teeth after one year of retention were found. The upper right lateral incisor exhibited the most evident change in the vertical plane, while the upper right central incisor exhibited the greatest change overall. Minimal changes in the cast measurements were observed. Lateral cephalometric measurements showed minimal changes after one year of retention, and these changes were not statistically significant except in the interincisal angle and the angle between the upper incisor and the line connecting the A-point to the pogonion., Conclusion: Increasing the extension of maxillary fixed retainers did not eliminate unwanted tooth movement in the first year of retention., (© 2024. The Author(s).)

Esophageal perforation, a rare and serious condition, has seen a reduction in mortality from 30% to 15% over the last three decades due to advancements such as gastrointestinal stents, minimally invasive surgeries, and improved interventional radiology techniques. This review analyzes management strategies for esophageal perforation based on 14 English-language articles published from 2009 to 2024, primarily utilizing surveys and national database analyses. The management of esophageal perforation is complex, with challenges in diagnosis and treatment strategy. Despite surgery being the traditional treatment, the role of less invasive methods is growing. Effective management of esophageal perforation involves advanced imaging for diagnosis, hemodynamic stabilization, and a multidisciplinary approach to treatment, including surgical and non-surgical interventions. The evidence for different treatment outcomes remains limited, highlighting the need for comprehensive care involving thoracic surgery, interventional radiology, gastroenterology, and critical care in an intensive care unit setting., Competing Interests: Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Shaqran et al.)

Lhermitte-Duclos disease (LDD) is a rare, slow-growing neoplasm that develops in the brain's posterior fossa. It can appear as a single lesion or as part of Cowden's syndrome. We report the case of a 51-year-old female with a history of diabetes, hypertension, and a previously treated neuroendocrine tumor, who presented to the hospital after experiencing a generalized tonic-clonic seizure. Except for a tongue laceration, the neurological examination was unremarkable. Brain magnetic resonance imaging (MRI) showed a T2 left cerebellar hemisphere pseudomass lesion with iso-hyperintense signals suggestive of Lhermitte-Duclos disease. This case describes a unique presentation of LDD and its various radiological manifestations, emphasizing the importance of neuroimaging in its diagnosis. Additionally, it contributes to the expanding literature on the varied manifestations of LDD., (© 2024 The Authors.)

The main objective of this study is to synthesize and characterize of a new three complexes of Pd (II), Cu (II), and Cu (I) metal ions with novel ligand ((Z)-2-(phenylamino)-N'-(thiophen-2-ylmethylene)acetohydrazide) H 2 L B . The structural composition of new compounds was assessed using several analytical techniques including FT-IR, 1 H-NMR, electronic spectra, powder X-ray diffraction, and thermal behavior analysis. The Gaussian09 program employed the Density Functional Theory (DFT) approach to optimize the geometry of all synthesized compounds, therefore obtaining the most favorable structures and crucial parameters. An investigation was conducted to examine the impact of γ-irradiation on ligands and complexes. Before and after γ-irradiation, the antimicrobial efficiency was investigated for the activity of ligands and their chelates. The Cu(I) complex demonstrated enhanced antibacterial activity after irradiation, as well as other standard medications such as ampicillin and gentamicin. Similarly, the Cu(I) complex exhibited superior activity against antifungal species relative to the standard drug Nystatin. The docking investigation utilized the target location of the topoisomerase enzyme (2xct) chain A., 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 © 2024 Hassan, Aly, Al-Sulami, Albohy, Salem, Nasr and Abdalla.)

Background: Retainer is a necessary procedure when orthodontic treatment complete to avoid relapse due to periodontal fiber elasticity and to allow for alveolar bone regeneration. Compare the influence of vertical force on the failure of three fixed retainers: CAD/CAM polyether ether ketone (PEEK), CAD/CAM fiber glass reinforced composites (FRCs), and lingual retainer wire "Bond-A-Braid™"., Materials and Methods: One hundred and eight maxillary first premolars teeth were randomly allocated to three groups: Group A (CAD/CAM PEEK), Group B (CAD/CAM FRC), and Group C (lingual retainer wire " Bond-A-Braid™"). These retainers were bonded using Assure Plus Bonding Resin and GO TO Paste. For each specimen, a loading cycling and thermocycling machine was used. The failure debonding forces were measured on the interproximal segments using a universal testing machine with a cross-head speed of 1 mm/min. The adhesive remnant index (ARI) was calculated after identifying types of failure with a stereomicroscope at (X 20) magnification., Results: Group B and group C showed the highest failure bonding forces, with a mean of 209.67 ± 16.15 and 86.81 ± 4.59 N, respectively. However, Group A had a statistically significant lower bond failure force, with a mean value of 45.73 ± 4.48 N. At baseline, there was a statistically significant difference in connector retainer displacement between the three studied groups (p < .001). The ARI score was not statistically significant (p < .001) between the three study groups; for groups A and B, the ARI was predominantly score 3, and group C showed a mixed score of 2 and 3. The failure mode of retainers was investigated using an optical stereomicroscope. In group B, there was a cohesive breakdown in the retainer, and groups A and C exhibited failures primarily in the adhesive at the retainer interface., Conclusion: All groups differed significantly, with group A having the lowest debonding force and group B having the highest. Furthermore, there was not a substantial variation in ARI, but there was a significant difference in connector retainer displacement and the types of failure amongst the three groups., (© 2023. BioMed Central Ltd., part of Springer Nature.)

Background: The COVID-19 pandemic led to severe health systems collapse, as well as logistics and supply delivery shortages across sectors. Delivery of PCR related healthcare supplies continue to be hindered. There is the need for a rapid and accessible SARS-CoV-2 molecular detection method in low resource settings., Objectives: To validate a novel isothermal amplification method for rapid detection of SARS-CoV-2 across seven sub-Sharan African countries., Study Design: In this multi-country phase 2 diagnostic study, 3,231 clinical samples in seven African sites were tested with two reverse transcription Recombinase-Aided Amplification (RT-RAA) assays (based on SARS-CoV-2 Nucleocapsid (N) gene and RNA-dependent RNA polymerase (RdRP) gene). The test was performed in a mobile suitcase laboratory within 15 min. All results were compared to a real-time RT-PCR assay. Extraction kits based on silica gel or magnetic beads were applied., Results: Four sites demonstrated good to excellent agreement, while three sites showed fair to moderate results. The RdRP gene assay exhibited an overall PPV of 0.92 and a NPV of 0.88. The N gene assay exhibited an overall PPV of 0.93 and a NPV 0.88. The sensitivity of both RT-RAA assays varied depending on the sample Ct values. When comparing sensitivity between sites, values differed considerably. For high viral load samples, the RT-RAA assay sensitivity ranges were between 60.5 and 100% (RdRP assay) and 25 and 98.6 (N assay)., Conclusion: Overall, the RdRP based RT-RAA test showed the best assay accuracy. This study highlights the challenges of implementing rapid molecular assays in field conditions. Factors that are important for successful deployment across countries include the implementation of standardized operation procedures, in-person continuous training for staff, and enhanced quality control measures., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023. Published by Elsevier B.V.)

Four new complexes (Ni 2+ , Cu 2+ , Ag + , and Hg 2+ ) were prepared from the ligand N-(4-chlorophenyl)-2-(phenylglycyl)hydrazine-1-carbothioamide (H 2 L). Analytical and spectroscopic techniques were used to clarify the structural composition of the new chelates. In addition, all chelates were tested against bacterial strains and the HepG2 cell line to determine their antiseptic and carcinogenic properties. The Ni(II) complex was preferable to the other chelates. Molecular optimization revealed that H 2 L had the highest reactivity, followed by Hg-chelate, Ag-chelate, Ni-chelate, and Cu-chelate. Moreover, molecular docking was investigated against two different proteins: the ribosyltransferase enzyme (code: 3GEY) and the EGFR tyrosine kinase receptor (code: 1m17).

In this study, four new Mn(II), Fe(III), and Cr(III) complexes with two Schiff base ligands namely, 4-bromo-2-[(E)-{[4-(2-hydroxyethyl)phenyl]imino}methyl]phenol (HL1) and 2-[(E)-{[4-(2-hydroxyethyl)phenyl]imino}methyl]-4-methoxy phenol (HL2) have been synthesized and characterized. Different analytical and spectral methods have been used to characterize the ligands and their complexes. General formulas of [M(L)Cl 2 (H 2 O) 2 ] for FeL1, CrL1 and CrL2, and [M(L)Cl(H 2 O) 3 ] for MnL2 were proposed. HOMO and LUMO energies, as well as the electrical characteristics, have been calculated using DFT/B3LYP calculations with Gaussian 09 program. The optimized lowest energy configurations of the complexes are proven. The disc diffusion technique was used to test the pharmacological activities' antibacterial efficacy against diverse bacterial and fungus species. The MTT technique was used to assess the in vitro cytotoxicity of the ligands and their metal complexes on the Hep-G2 human liver carcinoma cell line and the MCF-7 human breast cancer cell line. All compounds displayed better activity compared to the free ligands. MnL2 complex showed predominant activity when compared to the other complexes with an IC 50 value of 2.6 ± 0.11 μg/ml against Hep-G2, and against MCF-7 the IC 50 value was 3.0 ± 0.2 μg/ml which is less than the standard drug cisplatin (4.0 μg/ml). UV-vis electronic spectrum and gel electrophoresis techniques have been used to investigate the compounds' affinity to bind and cleavage CT-DNA. The interaction's binding constants, or Kb, have been identified, and it was discovered that the new complexes' binding affinities are in the order of FeL1 > MnL2 > CrL2 > CrL1, and the binding mechanism has been suggested. To assess the kind of binding and binding affinity of the investigated drugs with human DNA, a molecular docking study was carried out (PDB:1bna). The acquired results supported the intercalation binding mechanism proposed in the experimental part and revealed that complexes may be inserted into the DNA molecule to stop DNA replication. According to ADMET data, the synthesized compounds have a high bioavailability profile and their physicochemical and pharmacological features remained within Lipinski's RO5 predicted limitations., (© 2023. The Author(s).)

Peritoneal dialysis (PD) can result in peritonitis, which frequently causes severe and near-fatal clinical implications if left untreated. Usually, gram-positive bacteria are the most common organisms involved. Uncommonly recognized as the cause of peritonitis in PD patients, Neisseria elongata is a gram-negative nasal and oropharyngeal normal flora organism., Case Presentation: We report a rare case of a 29-year-old man who had received automated PD for 6 years and had N. elongata peritonitis., Discussion: Several case reports of Neisseria -related peritonitis may point to the potential pathogenicity of such organisms and suggest that many cases of culture-negative peritonitis may have been misdiagnosed. Poor nutrition and chronic kidney disease have been suggested as potential risk factors for N. elongata peritonitis, both of which are present in our patient. With appropriate antibiotic use, most of the cases respond well to empirical treatment., Conclusion: Although rare, N. elongata can lead to PD catheter. peritonitis that, in some cases, require changing to hemodialysis., Competing Interests: The authors declare that they have no financial conflict of interest with regard to the content of this report., (© 2023 the Author(s). Published by Wolters Kluwer Health, Inc.)

Introduction: Peritoneal dialysis (PD) can result in peritonitis, which frequently causes severe and near-fatal clinical implications if left untreated. Usually, Gram-positive bacteria are the most common organisms involved. Uncommonly recognized as the cause of peritonitis in PD patients, Neisseria Elongata is a gram-negative nasal and oropharyngeal normal flora organism., Case Presentation: We report a rare case of a 29-year-old man who had received automated peritoneal dialysis for six years and had Neisseria Elongata peritonitis., Discussion: Several case Reports of niseria-related peritonitis may point to the potential pathogenicity of such organisms and suggest that many cases of culture-negative peritonitis may have been misdiagnosed. Poor nutrition and chronic kidney disease have been suggested as potential risk factors for Neisseria elongata peritonitis [8], both of which are present in our patient. With appropriate antibiotic use, most of the cases respond well to empirical treatment., Conclusion: Although rare, Neisseria Elongata can lead to Peritoneal Dialysis catheter Peritonitis that, in some cases, require changing to hemodialysis., Competing Interests: The authors have no competing of interest to declare., (© 2022 The Authors.)

Introduction: and importance: Haemophilus influenza severe presentations have decreased dramatically after the Hib vaccination was introduced. However, due to the emergence of Multi-drug resistance organisms, severe presentations like meningitis and ventriculitis may occur., Case Presentation: Here, we have described a rarely reported case of non-typeable Haemophilus influenza ventriculitis in a previously healthy patient. MRI of the head with contrast was suggestive of tiny foci of diffusion restriction in occipital horns of bilateral ventricles with minimal intraventricular pus formation. The diagnosis was confirmed based on blood culture results and MRI findings as the patient refused to have a lumbar puncture procedure for CSF analysis. The patient was treated with intravenous antibiotics and showed a good response., Clinical Discussion: In the post-HiB immunization era, we have seen a decline in invasive diseases caused by Type B Haemophilus influenza. However, non-typeable Haemophilus influenzae is now on the rise. Central nervous system infection due to non-typable Haemophilus influenza is infrequent as this organism is predominantly a respiratory mucosal pathogen resulting in acute and chronic respiratory tract infections. Multi-drug resistance of non-typeable Haemophilus influenzae is also becoming a cause of concern., Conclusion: Ventriculitis secondary to non-typeable beta-lactamase non-producing, ampicillin-resistant (BLNAR) Haemophilus influenza is rare, and more such cases need to be reported within the adult population to avoid under-recognition., Competing Interests: The authors have no competing of interest to declare., (© 2022 The Authors.)

Introduction: Although the COVID-19 Vaccine usually causes a few non-serious side effects, serious ones such as Erythema multiforme recently has been linked to it., Case Presentation: Our patient presented with severe skin reaction one day post-Covid-19 Moderna vaccine diagnosed as erythema multiforme proven by skin biopsy that responded well to steroids., Discussion: Erythema multiform major, an immune-mediated cutaneous reaction to infections or drugs involving the oral cavity, should be considered a possible adverse effect of numerous vaccinations, including SARSCoV2. Correct patient history gathering enables early detection and successful medical therapy with oral corticosteroids.Furthermore, the disease's rarity makes establishing a causative link difficult. However, because we are still learning about the innovative antiSARSCoV2 vaccines, it is crucial to be cautious of the potential cutaneous adverse responses., Conclusion: Despite being rare, life-threatening adverse reactions can occur post-COVID-19 Vaccination., Competing Interests: The authors have no competing of interest to declare., (© 2022 Published by Elsevier Ltd on behalf of IJS Publishing Group Ltd.)

Cardiotoxicity is damage to the heart muscle, which affects its function. Chemotherapy is known to cause cardiotoxicity along with many other medications and etiologies. Many chemotherapeutic cocktails are known to be associated with cardiotoxicities, such as taxane and cisplatin. Patients might have arrhythmias, severe bradycardia, cardiomyopathy, and even cardiac arrest, so precautions are taken when such medications are started. This report presents a patient who developed severe symptomatic bradycardia after receiving idarubicin and cytarabine and was managed conservatively, along with a literature review of this entity., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Albsheer et al.)

Objectives: To compare patient-reported experience between a Penn expander activated every other day vs twice daily., Materials and Methods: A total of 30 patients aged 12-16 years with transverse maxillary deficiency were recruited from the outpatient clinic, Faculty of Dentistry, Alexandria University (February 2019-December 2020). They were randomly allocated to two groups using block randomization (block size of six) and an allocation ratio of 1:1, which was concealed using opaque, sealed, sequentially numbered envelopes. Both groups received Penn expanders anchored by four palatal miniscrews. The slow maxillary expansion (SME) group activated the appliance once every other day. The rapid maxillary expansion (RME) group activated the appliance twice daily. Outcome measures were pain, pressure, headache, dizziness, speech difficulty, chewing difficulty, and swallowing difficulty scores rated by the participants on an 11-point numeric rating scale (NRS) at the following four time points: before appliance insertion (t1), after first activation (t2), after 1 week of activation (t3), and after last activation (t4)., Results: Data of 24 patients in the SME group (n = 12, mean age = 14.30 ± 1.37 years) and RME group (n = 12, mean age = 15.07 ± 1.59 years) were analyzed. Median scores for all outcomes were in the bottom quartiles of the NRS. No difference was found between the two groups at t1 or t2. Significantly higher scores for all variables, except dizziness and headache, were reported in the RME group at t4., Conclusions: Activation of miniscrew-supported expanders resulted in mild to moderate discomfort and functional limitation. Slow activation resulted in a better overall patient experience compared with rapid activation., (© 0000 by The EH Angle Education and Research Foundation, Inc.)

Wound dressings created using nanotechnology are known as suitable substrates to speed up the healing of both acute and chronic wounds. Therapeutic substances can be delivered using these materials. In this study, a hydrogel loaded with Cu (II) Schiff base 8-hydroxy quinoline complex (CuSQ) solid lipid nanoparticles (SLN) was formulated to investigate its wound healing potential in an excision wound healing model in rats. The CuSQ SLN were spherical shaped with sizes ranging from 111 to 202 nm and a polydispersity index (PDI) ranging from 0.43 to 0.76, encapsulation efficiency (EE) % between 85 and 88, and zeta potential (ZP) of -11.8 to -40 mV. The formulated hydrogel showed good homogeneity, good stability, and a pH of 6.4 which indicates no skin irritation and had no cytotoxicity on the human skin fibroblast (HSF) cell line. In the in vivo study, animals were placed in five groups: control, standard, plain hydrogel, low dose, and high dose of CuSQ hydrogel. Both doses of CuSQ showed significantly faster healing rates compared to standard and control rats. In addition, the histopathology study showed more collagen, improved angiogenesis, and intact re-epithelization with less inflammation. A significant increase in transforming growth factor-beta1 (TGF-β1) level and increased immune expression of vascular endothelial growth factor (VEGF) by CuSQ treatment validates its role in collagen synthesis, proliferation of fibroblasts and enhancement of angiogenesis. Matrix metalloproteinase-9 (MMP-9) was found to be significantly reduced after CuSQ treatment. Immunohistochemistry of tumor necrosis factor alpha (TNF-α) revealed a marked decrease in inflammation. Thus, we concluded that CuSQ would be a beneficial drug for cutaneous wound healing since it effectively accelerated wound healing through regulation of various cytokines and growth factors.

Objectives: To compare between skeletal and dentoalveolar effects of slow and rapid activation of miniscrew-supported expanders., Materials and Methods: A total of 30 patients were randomly allocated to two groups using block randomization and the allocation ratio 1:1. Both groups received maxillary expanders anchored using four miniscrews. Activation protocol was once every other day in the slow expansion (SME) group and twice daily in the rapid expansion (RME) group. Cone-beam computed tomography (CBCT) scans were obtained before expansion and after removal of the expanders. Transverse skeletal and dentoalveolar changes were measured using CBCT., Results: A total of 12 patients in the SME group (mean age, 14.30 ± 1.37 years) and 12 patients in the RME group (mean age, 15.07 ± 1.59 years) were analyzed. RME showed significantly greater widening of the mid-palatal suture at the level of first molars (mean difference [SME - RME] = -0.61 mm), and a greater increase in right and left molar buccal inclination (mean difference= -3.83° and -2.03°, respectively). Percentage of skeletal expansion relative to the jackscrew opening was not significantly different between the groups. Palatal inflammation was evident following appliance removal. Miniscrew mobility and bending were observed with RME., Conclusions: Both SME and RME were effective in correcting skeletal transverse maxillary deficiency. However, RME resulted in more buccal tipping of maxillary molars and in miniscrew failures and bending.

A new series of Zr(IV), V(IV), Ru(III), and Cd(II) complexes with the ligand N-((5-hydroxy-4-oxo-4H-pyran-3-yl)methylene)-2-(p-tolylamino)acetohydrazide ( H 2 L ) have been prepared. FT-IR, 1 H-NMR, electronic spectra, powder X-ray, and thermal behavior methods were applied to elucidate the structural composition of new compounds. Geometry optimization for all synthesized compounds was conducted using the Gaussian09 program via the DFT method, to obtain optimal structures and essential parameters. Moreover, the antibacterial and antitumor activity of the ligand and its complexes were studied, where the Cd(II) complex acquires probably the best antibacterial activity followed by the Ru(III) complex towards bacterial species than others when using ampicillin and gentamicin were used as standard drugs. The complexes exhibited interestingly antitumor potential against the MCF-7 breast cancer cell line. The cytotoxicity of the new complexes has been arranged to follow the order: Ru(III) complex > Cd(II) complex > Zr(IV) complex > V(IV) complex > ligand. Molecular docking was performed on the active site of ribosyltransferase and obtained good results. Structure-based molecular docking is used to identify a potential therapeutic inhibitor for NUDT5., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 Hussein H. Elganzory et al.)

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has numerous effects on different systemic organs other than the lungs. In this case report, we look at the presentation of a young female who was diagnosed with autoimmune hemolytic anemia (AIHA), kidney injury and thrombocytopenia during coronavirus disease 2019 (COVID-19) infection. She recovered well without the need for steroids. As demonstrated by this case, COVID-19 infection can be associated with the development of AIHA. The purpose of this report is to indicate that COVID-19 can present unusually with different clinical manifestations enough to require hospitalization., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2022, Musa et al.)

New Pb(II), Mn(II), Hg(II), and Zn(II) complexes, derived from 4-(4-chlorophenyl)-1-(2-(phenylamino)acetyl)thiosemicarbazone, were synthesized. The compounds with general formulas, [Pb(H 2 L) 2 (OAc) 2 ]ETOH.H 2 O, [Mn(H 2 L)(HL)]Cl, [Hg 2 (H 2 L)(OH)SO 4 ], and [Zn(H 2 L)(HL)]Cl, were characterized by physicochemical and theoretical studies. X-ray diffraction studies showed a decrease in the crystalline size of compounds that were exposed to gamma irradiation (γ-irradiation). Thermal studies of the synthesized complexes showed thermal stability of the Mn(II) and Pb(II) complexes after γ-irradiation compared to those before γ-irradiation, while no changes in the Zn(II) and Hg(II) complexes were observed. The optimized geometric structures of the ligand and metal complexes are discussed regarding density functional theory calculations (DFT). The antimicrobial activities of the ligand and metal complexes against several bacterial and fungal stains were screened before and after irradiation. The Hg(II) complex has shown excellent antibacterial activity before and after γ-irradiation. In vitro cytotoxicity screening of the ligand and the Mn(II) and Zn(II) complexes before and after γ-irradiation disclosed that both the ligand and Mn(II) complex exhibited higher activity against human liver (Hep-G2) than Zn(II). Molecular docking was performed on the active site of MK-2 and showed good results.

Despite the common use of salens and hydroxyquinolines as therapeutic and bioactive agents, their metal complexes are still under development. Here, we report the synthesis of novel mixed-ligand metal complexes (MSQ) comprising salen (S), derived from (2,2'-{1,2-ethanediylbis[nitrilo(E) methylylidene]}diphenol, and 8-hydroxyquinoline (Q) with Co(II), Ni(II), Cd(II), Al(III), and La(III). The structures and properties of these MSQ metal complexes were investigated using molar conductivity, melting point, FTIR, 1 H NMR, 13 C NMR, UV-VIS, mass spectra, and thermal analysis. Quantum calculation, analytical, and experimental measurements seem to suggest the proposed structure of the compounds and its uncommon monobasic tridentate binding mode of salen via phenolic oxygen, azomethine group, and the NH group. The general molecular formula of MSQ metal complexes is [M(S)(Q)(H 2 O)] for M (II) = Co, Ni, and Cd or [M(S)(Q)(Cl)] and [M(S)(Q)(H 2 O)]Cl for M(III) = La and Al, respectively. Importantly, all prepared metal complexes were evaluated for their antimicrobial and anticancer activities. The metal complexes exhibited high cytotoxic potency against human breast cancer (MDA-MB231) and liver cancer (Hep-G2) cell lines. Among all MSQ metal complexes, CoSQ and LaSQ produced IC 50 values (1.49 and 1.95 µM, respectively) that were comparable to that of cisplatin (1.55 µM) against Hep-G2 cells, whereas CdSQ and LaSQ had best potency against MDA-MB231 with IC 50 values of 1.95 and 1.43 µM, respectively. Furthermore, the metal complexes exhibited significant antimicrobial activities against a wide spectrum of both Gram-positive and -negative bacterial and fungal strains. The antibacterial and antifungal efficacies for the MSQ metal complexes, the free S and Q ligands, and the standard drugs gentamycin and ketoconazole decreased in the order AlSQ > LaSQ > CdSQ > gentamycin > NiSQ > CoSQ > Q > S for antibacterial activity, and for antifungal activity followed the trend of LaSQ > AlSQ > CdSQ > ketoconazole > NiSQ > CoSQ > Q > S. Molecular docking studies were performed to investigate the binding of the synthesized compounds with breast cancer oxidoreductase (PDB ID: 3HB5). According to the data obtained, the most probable coordination geometry is octahedral for all the metal complexes. The molecular and electronic structures of the metal complexes were optimized theoretically, and their quantum chemical parameters were calculated. PXRD results for the Cd(II) and La(III) metal complexes indicated that they were crystalline in nature., Competing Interests: The authors declare no conflict of interest.

Background: Retinitis pigmentosa punctata albescens (RPA) is a particular form of retinitis pigmentosa characterized by childhood onset night blindness and areas of peripheral retinal atrophy. We investigated the genetic cause of RPA in a family consisting of two affected Egyptian brothers with healthy consanguineous parents., Methods: Mutational analysis of four RPA causative genes was realized by Sanger sequencing on both probands, and detected variants were subsequently genotyped in their parents. Afterwards, found variants were deeply, statistically, and in silico characterized to determine their possible effects and association with RPA., Results: Both brothers carry three missense PRPH2 variants in a homozygous condition (c.910C > A, c.929G > A, and c.1013A > C) and two promoter variants in RHO (c.-26A > G) and RLBP1 (c.-70G > A) genes, respectively. Haplotype analyses highlighted a PRPH2 rare haplotype variant (GAG), determining a possible alteration of PRPH2 binding with melanoregulin and other outer segment proteins, followed by photoreceptor outer segment instability. Furthermore, an altered balance of transcription factor binding sites, due to the presence of RHO and RLBP1 promoter variants, might determine a comprehensive downregulation of both genes, possibly altering the PRPH2 shared visual-related pathway., Conclusions: Despite several limitations, the study might be a relevant step towards detection of novel scenarios in RPA etiopathogenesis.

Ion channels are membrane-spanning integral proteins expressed in multiple organs, including the eye. Here, ion channels play a role in several physiological processes, like signal transmission and visual processing. A wide range of mutations have been reported in the corresponding genes and their interacting subunit coding genes, which contribute significantly to a wide spectrum of ocular diseases collectively called channelopathies, a subgroup of inherited retinal dystrophies. Such mutations result in either a loss or gain-of channel functions affecting the structure, assembly, trafficking and localization of channel proteins. We investigated the probands of seven Italian and Egyptian families affected by not completely defined forms of inherited retinal dystrophies, by whole exome sequencing (WES) experiments, and found interesting variants in already known causative genes probably able to impair retinal functionalities. However, because such variants did not completely explain the phenotype manifested by each patient, we proceed to further investigate possible related genes carrying mutations that might complement previously found data, based on the common aspect linked to neurotransmission impairments. We found 10 mutated genes whose variants might alter important ligand binding sites differently distributed through all considered patients. Such genes encode for ion channels, or their regulatory proteins, and strictly interact with known causative genes, also sharing with them synaptic-related pathways. Taking into account several limitations that will be resolved by further experiments, we believe that our exploratory investigation will help scientists to provide a new promising paradigm for precise diagnosis of retinal dystrophies to facilitate the development of rational treatments.

Purpose: Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically and molecularly., Methods: Detailed phenotypic and genomic analysis of patients with ciliopathies, and functional characterization of novel candidate genes., Results: In this study, we describe 125 families with ciliopathies and show that deleterious variants in previously reported genes, including cryptic splicing variants, account for 87% of cases. Additionally, we further support a number of previously reported candidate genes (BBIP1, MAPKBP1, PDE6D, and WDPCP), and propose nine novel candidate genes (CCDC67, CCDC96, CCDC172, CEP295, FAM166B, LRRC34, TMEM17, TTC6, and TTC23), three of which (LRRC34, TTC6, and TTC23) are supported by functional assays that we performed on available patient-derived fibroblasts. From a phenotypic perspective, we expand the phenomenon of allelism that characterizes ciliopathies by describing novel associations including WDR19-related Stargardt disease and SCLT1- and CEP164-related Bardet-Biedl syndrome., Conclusion: In this cohort of phenotypically and molecularly characterized ciliopathies, we draw important lessons that inform the clinical management and the diagnostics of this class of disorders as well as their basic biology.

PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis-trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens. Only nine affected individuals have been reported to date.MethodsWe report on a cohort of 17 individuals with FKBP14-kEDS and the follow-up of three previously reported patients, and provide an extensive overview of the disorder and its natural history based on clinical, biochemical, and molecular genetics data.ResultsBased on the frequency of the clinical features of 23 patients from the present and previous cohorts, we define major and minor features of FKBP14-kEDS. We show that myopathy is confirmed by histology and muscle imaging only in some patients, and that hearing impairment is predominantly sensorineural and may not be present in all individuals.ConclusionOur data further support the extensive clinical overlap with PLOD1-kEDS and show that vascular complications are rare manifestations of FKBP14-kEDS.

We report a rare congenital limb defect with combined features of both fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) and Fuhrmann's syndromes. A female newborn infant, born to nonconsanguineous Egyptian parents, presented with isolated abnormalities of the lower limbs comprising bilateral shortening and anterior bowing of the lower limbs at the distal third of the tibia and split foot. Radiographic examination revealed complete absence of both fibulae, anterolateral bowing and shortening of the tibia, bowing of the femora, and absence of several metatarsal and phalangeal bones. The upper limbs were clinically and radiologically normal, and the infant had neither facial dysmorphism nor other associated visceral anomalies. The presented case highlights an extremely rare limb deficiency syndrome, and together with additional case reports, it could be useful to further delineate this condition.

Purpose: Mutations in the bicoid-like transcription factor PITX2 gene often result in Axenfeld-Rieger syndrome (ARS), an autosomal-dominant inherited disorder. We report here the discovery and characterization of novel PITX2 deletions in a small kindred with ARS., Methods: Two familial patients (father and son) from a consanguineous family were examined in the present study. Patient DNA samples were screened for PITX2 mutations by DNA sequencing and for copy number variation by SYBR Green quantitative polymerase chain reaction (PCR) analysis., Results: We report a novel deletion involving the coding region of PITX2 in both patients. The minimum size of the deletion is 1 421 914 bp that spans one upstream regulatory element (CE4), PITX2 and a minimum of 13 neighbouring genes. The maximum size of the deletion is 3 789 983 bp. The proband (son) additionally possesses a novel 2-bp deletion in a non-coding exon of the remaining PITX2 allele predicted to alter correct splicing., Conclusion: Our findings implicate a novel deletion of the PITX2 gene in the pathogenesis of ARS in the affected family. This ARS family presented with an atypical and extremely severe phenotype that resulted in four miscarriages and the death at 10 months of age of a sib of the proband. As the phenotypic manifestations in the proband are more severe than that of the father, we hypothesize that the deletion of the entire PITX2 allele plus a novel 2-bp deletion (observed in the proband) within the remaining PITX2 allele together contributed to the atypical ARS presentation in this family. This is the first study reporting on bi-allelic changes of PITX2 potentially contributing to a more severe ARS phenotype., (© 2016 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)

Objective: Mutations in the EDA gene, encoding the epithelial morphogen ectodysplasin-A, can result in different but overlapping phenotypes. Therefore the aim of the study was to search for etiological variations of EDA and other candidate genes in two unrelated Egyptian male children with sporadic non-syndromic tooth agenesis (NTA) and hypohidrotic ectodermal dysplasia (HED)., Design: Direct sequencing of the coding regions including exon-intron boundaries of EDA, MSX1, PAX9, WNT10A and EDAR was performed in probands and their available family members., Results: Two etiological mutations were found in the EDA coding region. The patient with NTA in both deciduous and permanent dentition was a carrier of a novel in-frame deletion situated in the short collagenous domain (c.663-680delTCCTCCTGGTCCTCAAGG, p.222-227delPPGPQG). The second mutation, located outside the minimal furin consensus motif (c.463C>T, p.Arg155Cys, rs132630312), was identified in the patient exhibiting all typical features of HED. The identified EDA mutations were not detected in probands' family members as well as in 188 unrelated control individuals. No pathogenic variants were found in the MSX1, PAX9, WNT10A and EDAR genes., Conclusion: Our results increase the knowledge of the spectrum of EDA mutations and confirm that this gene is an important candidate gene for two developmental diseases sharing the common feature of the congenital lack of teeth. In addition, these results can support the hypothesis that X-linked HED and EDA-related NTA are the same disease with different degrees of severity., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

β-thalassemia is a common hereditary disorder, particularly in Middle Eastern countries. More than 200 mutations in the β globin gene have been reported; most are point mutations in functionally important regions (HBB; OMIM #141900)). The spectrum of mutations varies significantly between different geographical regions; only a few common mutations of β-globin cause β-thalassemia in each population. The aim of this study was to determine the spectrum of mutations that cause β-thalassemia in the North Coast of Egypt and to investigate their correlation with the phenotypic severity of β-thalassemia. We carried out our study with a total of 47 Egyptian patients (25 male and 22 female) confirmed to have β-thalassemia. Evaluation of β-thalassemia mutations revealed the presence of 10 β-globin mutations. The most frequently encountered mutations were intronic: IVS 1.6 [T>C] (27.66%) and IVS 1.110 [G>A] (22.35%), followed by IVS 2.848 [C>A], IVS 1.1 (G>A), and IVS 2.745 [C>G]. We observed the exonic and promoter mutations less frequently. A homozygous mutation was found in 24 patients (51%) and compound heterozygous mutations were found in 13 patients (28%). However, in 9 patients (19%), we identified only 1 mutation. In 1 patient (2%), we detected no mutation. The detection rate of the method that we used in our population was 88% (83 of the tested 94 alleles). The results we obtained did not reveal any correlation between genotype and phenotype among patients with β-thalassemia., (Copyright© by the American Society for Clinical Pathology (ASCP).)

The aim of this study was to investigate the usefulness of postmortem external examination performed by an experienced clinical geneticist as an alternative to autopsy in countries with limited resources. We studied a consecutive cohort of couples seeking genetic counseling for fetal loss or perinatal death over a period of 3 years. The study involved 230 couples; only 57 of them submitted a fetus or dead neonate, for whom a meticulous postmortem clinical examination was performed by an experienced clinical geneticist. The diagnosis rate for the group of cases subjected to postmortem examination (57.9%) was much higher than that of the group that comprised cases for which diagnosis was made through evaluation of medical records (27.2%). Whenever fetal or neonatal autopsy is refused or is not feasible, a comprehensive fetal or perinatal postmortem external examination by an experienced clinical geneticist may be a reasonable substitute.

Unlabelled: The kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA) is a rare recessively inherited connective tissue disorder characterized by bruisable, hyperextensible skin, generalized joint laxity, severe muscular hypotonia at birth and progressive congenital scoliosis or kyphosis. Deficiency of the enzyme lysyl hydroxylase 1 (LH1) due to mutations in PLOD1 results in underhydroxylation of collagen lysyl residues and, hence, in the abnormal formation of collagen cross-links. Here, we report on the clinical, biochemical, and molecular findings in six Egyptian patients from four unrelated families severely affected with EDS VIA. In addition to the frequently reported p.Glu326&#95;Lys585dup, we identified two novel sequence variants p.Gln208* and p.Tyr675*, which lead either to loss of function of LH1 or to its deficiency. All affected children presented with similar clinical features of the disorder, and in addition, several dysmorphic craniofacial features, not yet described in EDS VIA. These were specific for the affected individuals of each family, but absent in their parents and their unaffected siblings., Conclusion: Our description of six patients presenting with a homogeneous clinical phenotype and dysmorphic craniofacial features will help pediatricians in the diagnosis of this rare disorder.

Background & Aim: Hearing loss is the most frequent form of neurosensory deficit in humans. Although the majority of hereditary hearing loss is due to nuclear gene mutations, it has become clear the significant contribution of mitochondrial genes. The first mitochondrial mutation shown to cause non-syndromic hearing loss in humans was the A1555G mutation in the small ribosomal RNA gene (12S rRNA). It has been detected in hundreds of families of different ethnic backgrounds, making it one of the prevalent genetic causes of hearing loss currently identified. However, there are major differences between ethnic groups regarding the frequency of this mutation. Few studies have been made in Arab countries, especially in Egypt. Here we report the prevalence of the mitochondrial mutation A1555G among patients with non-syndromic hearing loss (NSHL) and in healthy individuals with normal hearing in the Egyptian population., Subjects & Methods: The study was conducted on 97 patients with SNHL and 300 unrelated healthy Egyptian individuals, with normal hearing, as normal control subjects. Polymerase chain reaction followed by restriction enzyme digestion was used to screen the DNA samples of all subjects for the A1555G mutation., Results: Participants included 97 cases with SNHL, 46 males and 51 females. Their ages ranged from 1 month to 65 years with the mean age 6.2 years (SD ± 8.2). Paternal consanguinity was reported in 46% (35/76) of the studied families. The A1555G mutation was found in one of the 97 patients (1.3%), while it has not been detected in the 300 control samples., Conclusion: Our findings indicate that, even in absence of exposure to aminoglycosides, the mitochondrial A1555G mutation is one of the potential causes of non-syndromic SNHL in the Egyptian population.

Ectodermal dysplasia-skin fragility syndrome (ED-SFS) is a rare genodermatosis caused by mutations in the PKP1 gene, encoding the desmosomal plaque protein plakophilin-1. Since its initial description in 1997, few individuals with this disorder have been reported to date. Here, we present the first Egyptian cases of ED-SFS, carrying a novel homozygous mutation in the PKP1 gene. Direct sequencing of the amplified DNA from the affected cases disclosed a G-to-T transversion at nucleotide position c.203-1 within intron 1 of PKP1 (c.203-1G>T). To the best of our knowledge, this mutation has not been previously described in the databases.

Mowat-Wilson syndrome is a genetic disease caused by heterozygous mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene. The syndrome is characterized by typical facial features, moderate-to-severe mental retardation, epilepsy and variable congenital malformations, including Hirschsprung disease, genital anomalies, congenital heart disease, agenesis of the corpus callosum, and eye defects. The prevalence of Mowat-Wilson syndrome is currently unknown, but it seems that Mowat-Wilson syndrome is underdiagnosed, particularly in patients without Hirschsprung disease. We report here the first Egyptian case of Mowat-Wilson syndrome who was conceived by intracytoplasmic sperm injection. The patient manifested bilateral sensorineural hearing loss--a new feature not previously reported in cases of Mowat-Wilson syndrome. This report describes the first Egyptian patient of Mowat-Wilson syndrome who was conceived after intracytoplasmic sperm injection, and provides a new evidence for the inclusion of deafness among the congenital defects of the syndrome., (© The Author(s) 2013.)

Objective: Tooth agenesis is the most common dental anomaly, whose aetiology still remains to be fully elucidated. The aim of this study was to investigate the genetic cause of non-syndromic hypodontia with clinical variability in an Egyptian family., Design: The entire coding regions including exon-intron boundaries of the MSX1, PAX9 and WNT10A genes were investigated by direct sequencing in all affected family members., Results: Novel heterozygous mutation inherited in an autosomal dominant manner was identified in the WNT10A gene. This 21-bp deletion combined with 1-bp insertion, c.-14&#95;7delinsC, eliminates the translation initiation codon leading to either no protein production or translation of alternative open reading frames. None of the control subjects (400 chromosomes) were carriers of this novel WNT10A mutation. No pathogenic mutations were found in the MSX1 and PAX9 genes., Conclusions: The novel c.-14&#95;7delinsC mutation might be the etiological variant of the WNT10A gene responsible for the permanent tooth agenesis in the Egyptian family. WNT10A is a major candidate gene for non-syndromic hypodontia., (Copyright © 2014 Elsevier Ltd. All rights reserved.)

Background: Polymorphisms of the human platelet alloantigens (HPA) arise from single base pair substitutions in alleles and lead to changes in amino acids of glycoproteins expressed on platelets. The aim of this study was to determine the gene frequencies of the five common HPA (HPA-1 to -5) in Egyptians and Jordanians and to compare these data with those established for other populations., Materials and Methods: HPA genotyping was done by polymerase chain reaction with sequence-specific primers., Results: The gene frequencies obtained in Egyptians were: HPA-1a/b, 0.767/0.233; HPA-2a/b, 0.759/0.241; HPA-3a/b, 0.704/0.296; HPA-4a/b, 1/0; HPA-5a/b, 0.728/0.272, while the frequencies in Jordanians were: HPA-1a/b, 0.821/0.179; HPA-2a/b, 0.877/0.123; HPA-3a/b, 0.660/0.340; HPA-4a/b, 1/0; HPA-5a/b, 0.795/0.205. The observed gene frequencies in both populations were in Hardy-Weinberg equilibrium. The gene frequencies for HPA-2b and HPA-5b among Egyptians were the highest reported among Arabs. Except for HPA-2, there were no significant differences in the distribution of HPA-1 to -5 between the two populations., Conclusion: The distributions of HPA alleles among Egyptians and Jordanians are similar to those reported for other Arabs. This study reports the first data on gene frequencies of HPA in Egyptians and Jordanians.

Hypomyelination and congenital cataract (HCC, OMIM #610532) is a rare autosomal recessive disorder due to FAM126A mutations characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in the central and peripheral nervous system. We have identified two novel mutations in three affected members of two unrelated families. Two sibs harbouring a microdeletion causing a premature stop in the protein showed the classical clinical and neuroradiologic HCC picture. The third patient carrying a missense mutation showed a relatively mild clinical picture without peripheral neuropathy. A residual amount of hyccin protein in primary fibroblasts was demonstrated by functional studies indicating that missense mutations are likely to have less detrimental effects if compared with splice-site mutations or deletions that cause the full-blown HCC phenotype, including peripheral nervous system involvement., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Schistosomiasis has been incriminated in the significant increase in hepatitis C virus (HCV) infections, although the association has not been adequately explained. We hypothesized that the CCR5Δ32 mutation may be involved in the high prevalence of HCV with schistosomiasis. The aim was to explore the association between the CCR5Δ32 mutation in schistosomiasis patients and protection against HCV infection or progression. We compared 220 schistosomiasis patients (S group) and 190 patients with HCV and schistosomiasis (HCV/S group) for the presence of the CCR5Δ32 mutation. Clinical, biochemical, and radiological assessments were done. HCV infection was diagnosed with anti-HCV antibodies and a recombinant HCV antigen-based rapid immunochromatographic test, and confirmed by HCV reverse transcriptase PCR. HCV genotyping was done by reverse hybridization line probe assay. Schistosomiasis was diagnosed by FAST-ELISA and indirect hemagglutination for Schistosoma mansoni antibodies, and stool analysis for ova. Polymorphisms of the CCR5 receptor gene were assessed by PCR-based genotyping of the 32-bp deletion at the CCR5 locus in whole blood. Of HCV/S patients, 91.6 vs. 91.8 % of S patients had CCR5 WT/WT homozygosity (nonmutants). Heterozygous and homozygous CCR5Δ32 mutation patterns (CCR5Δ32/WT and CCR5Δ32/Δ32) were distributed similarly in the HCV/S and S groups (6.8 vs. 7.2 % and 0.53 vs. 0.90 %, respectively; p > 0.05, OR = 0.97). Genotype 4 was the predominant viral genotype (93 % of cases). No differences were observed in CCR5 gene patterns according to viral genotype, viral RNA count, or ALT level. However, CCR5Δ32 mutants (homozygous and heterozygous) had a lower rate of severe hepatic fibrosis vs. nonmutants (27 vs. 42 %, p = 0.101, OR = 0.51). Moreover, 53.4 % of CCR5Δ32/WT mutants showed spontaneous viral clearance vs. 26.2 % of nonmutants (p = 0.000, OR = 4.1). In conclusion, no association was detected between the CCR5Δ32 mutation and HCV disease susceptibility in schistosomiasis patients. However, patients with the CCR5Δ32 mutation and HCV infection were less prone to severe hepatic fibrosis and more likely to have spontaneous viral clearance than patients with the nonmutant genotype.

Objectives: Hydatidiform mole is an aberrant pregnancy with hyperproliferative vesicular trophoblast and defective fetal development. In 2006, mutations in NLRP7 were found to be responsible for recurrent hydatidiform moles (RHM), but genetic heterogeneity has been demonstrated and mutations of C6orf221 were later reported in several families. Here we report a new Egyptian family in which two sisters had eleven and four molar pregnancies, respectively. The objective was to present the results of the mutation analysis of NLRP7 and C6orf221 genes in Egyptian women with RHM., Study Design: Three women from two unrelated Egyptian families; two sisters and a previously described sporadic case, all presenting with RHM, were enrolled. The cases were subjected to detailed history taking, karyotyping and screening for mutations in NLRP7 and C6orf221., Results: Two NLRP7 mutations have been detected, one in each family. In the first family, sequencing identified a homozygous 2 bp deletion in the seventh coding exon of NLRP7, while a homozygous G-to-A substitution in the third coding exon of NLRP7 was detected in the second family. Both of them result in a truncated protein. The two mutations have not been previously described in the literature. No mutations in C6orf221 were found in any of the samples., Conclusion: The detection of an NLRP7 mutation in both the familial and the apparently isolated case of RHM provides further evidence for the previously established role of NLRP7 mutations in the pathophysiology of RHM and increases the diversity of mutations described in the Egyptian population. Our results also expand further the spectrum of reproductive wastage associated with NLRP7 mutations to patients with recurrent spontaneous abortion., (Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.)