10 results on '"Petmezci MT"'
Search Results
2. A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy.
- Author
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Altuntaş C, Uzunhan TA, Ertürk B, Petmezci MT, Çakar NE, Noyan B, Dokucu Aİ, and Önal H
- Subjects
- Humans, Female, Thymidine Phosphorylase genetics, Mutation genetics, Syndrome, Mitochondrial Encephalomyopathies complications, Mitochondrial Encephalomyopathies genetics, Mitochondrial Encephalomyopathies pathology, Leukoencephalopathies genetics, Leukoencephalopathies complications
- Abstract
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a well-known mitochondrial depletion syndrome. Since Van Goethem et al. described MNGIE syndrome with pathogenic POLG1 mutations in 2003, POLG1 gene became a target for MNGIE patients. Cases with POLG1 mutations strikingly differ from classic MNGIE patients due to a lack of leukoencephalopathy. Here we present a female patient with very early onset disease and leukoencephalopathy compatible with classic MNGIE disease who turned out to have homozygous POLG1 mutation compatible with MNGIE-like syndrome, mitochondrial depletion syndrome type 4b., (Copyright © 2023 Elsevier B.V. All rights reserved.)
- Published
- 2023
- Full Text
- View/download PDF
3. Immunoadsorption therapy for a meningococcemia patient with myocarditis, adrenal hemorrhage, and purpura fulminans: a case report.
- Author
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Akcay N, Kihtir HS, Ozcelik G, Barlas UK, Petmezci MT, and Sevketoglu E
- Subjects
- Child, Female, Humans, Hemorrhage, Purpura Fulminans complications, Purpura Fulminans therapy, Myocarditis complications, Myocarditis therapy, Meningococcal Infections complications, Meningococcal Infections therapy, Adrenal Gland Diseases, Neisseria meningitidis, Sepsis
- Abstract
Neisseria meningitidis, also known as meningococcus, is a relatively uncommon cause of invasive infection, but when it occurs, it is frequently severe and potentially life-threatening. A ten-year-old female patient developed a purpuric rash with fever. Upon arrival to the pediatric intensive care department, she was unconscious and in a poor general condition. We combined treatment with antibiotics, volume resuscitation, hydrocortisone, and CytoSorb.½ therapy resulted in a stabilization of hemodynamics, as well as control of hyperinflammation. We observed a significant decrease in vasopressor dosage in this patient., (Copyright © 2021 Sociedade Brasileira de Anestesiologia. Published by Elsevier Editora Ltda. All rights reserved.)
- Published
- 2022
- Full Text
- View/download PDF
4. Multisystem inflammatory syndrome in children associated with COVID-19 in 101 cases from Turkey (Turk-MISC study).
- Author
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Yilmaz Ciftdogan D, Ekemen Keles Y, Karbuz A, Cetin BS, Elmas Bozdemir S, Kepenekli Kadayifci E, Metin Akcan O, Ozer A, Erat T, Sutcu M, Buyukcam A, Belet N, Erdeniz EH, Dalgic Karabulut N, Hancerli Torun S, Oncel S, Orbak Z, Turel O, Gayretli Aydin ZG, Kilic O, Yahsi A, Kara Aksay A, Ergenc Z, Petmezci MT, Oflaz MB, Sarikaya R, Otar Yener G, Ozen S, Gul D, Arslan G, Kara SS, Demirkol D, Yazici Ozkaya P, Yozgat Y, Varan C, Kara M, Arga G, Yakut N, Kilic AO, Cakici O, Kucuk M, Kaba O, Karaoglu Asrak H, Bursal Duramaz B, Dalkiran T, Berna Anil A, Turgut M, Karapinar B, Somer A, Elmali F, Dinleyici EC, Ciftci E, and Kara A
- Subjects
- Child, Fatigue, Female, Glucocorticoids therapeutic use, Humans, Immunoglobulins, Intravenous therapeutic use, Male, Retrospective Studies, SARS-CoV-2, Systemic Inflammatory Response Syndrome, Turkey epidemiology, COVID-19 complications, Mucocutaneous Lymph Node Syndrome
- Abstract
Aim: Multisystem inflammatory syndrome in children (MIS-C) may cause shock and even death in children. The aim of this study is to describe the clinical features, laboratory characteristics and outcome of children diagnosed with MIS-C in 25 different hospitals in Turkey., Methods: The retrospective study was conducted between 8 April and 28 October 2020 in 25 different hospitals from 17 cities. Data were collected from patients' medical records using a standardised form. Clinical and laboratory characteristics and outcomes according to different age groups, gender and body mass index percentiles were compared using multivariate logistic regression analysis., Results: The study comprised 101 patients, median age 7 years (interquartile range (IQR) 4.6-9.3); 51 (50.5%) were boys. Reverse-transcriptase polymerase chain reaction (PCR) assay was positive in 21/100 (21%) patients; 62/83 (74.6%) patients had positive serology for SARS-CoV-2. The predominant complaints were fever (100%), fatigue (n = 90, 89.1%), and gastrointestinal symptoms (n = 81, 80.2%). Serum C-reactive protein (in 101 patients, median 165 mg/L; range 112-228), erythrocyte sedimentation rate (73/84, median 53 mm/s; IQR 30-84) and procalcitonin levels (86/89, median 5 μg/L; IQR 0.58-20.2) were elevated. Thirty-eight patients (37.6%) required admission to intensive care. Kawasaki disease (KD) was diagnosed in 70 (69.3%) patients, 40 of whom had classical KD. Most patients were treated with intravenous immunoglobulin (n = 92, 91%) and glucocorticoids (n = 59, 58.4%). Seven patients (6.9%) died., Conclusion: The clinical spectrum of MIS-C is broad, but clinicians should consider MIS-C in the differential diagnosis when persistent fever, fatigue and gastrointestinal symptoms are prominent. Most patients diagnosed with MIS-C were previously healthy. Immunomodulatory treatment and supportive intensive care are important in the management of cases with MIS-C. Glucocorticoids and intravenous immunoglobulins are the most common immunomodulatory treatment options for MIS-C. Prompt diagnosis and prompt treatment are essential for optimal management., (© 2022 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).)
- Published
- 2022
- Full Text
- View/download PDF
5. Role of soluble triggering receptor expressed in myeloid cells-1 in distinguishing SIRS, sepsis, and septic shock in the pediatric intensive care unit.
- Author
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Duramaz BB, Ankay N, Yesilbas O, Kihtir HS, Yozgat CY, Petmezci MT, Gedikbasi A, and Sevketoglu E
- Subjects
- Adolescent, Chi-Square Distribution, Child, Child, Preschool, Diagnosis, Differential, Female, Humans, Infant, Infant, Newborn, Intensive Care Units, Pediatric organization & administration, Intensive Care Units, Pediatric statistics & numerical data, Male, Prospective Studies, Statistics, Nonparametric, Sepsis diagnosis, Systemic Inflammatory Response Syndrome diagnosis, Triggering Receptor Expressed on Myeloid Cells-1 analysis
- Abstract
Background: Research into new markers has been intensified for early diagnosis, prognosis, and differentiation of SIRS, sepsis, and septic shock in recent years. This study aimed to investigate the role of soluble triggering receptor expressed in myeloid cells-1 (sTREM-1) and interleukin (IL)-6 in distinguishing between systemic inflammatory response syndrome (SIRS), sepsis, and septic shock in pediatric intensive care unit (PICU) patients., Methods: Between June 2014 and July 2015, 90 consecutive patients who were treated in the PICU were included in this prospective observational study. Patients were divided into four groups: control (n = 23), SIRS (n = 22), sepsis (n = 23), and septic shock (n = 22). All patients were evaluated for white blood cell (WBC), serum C-reactive protein (CRP), procalcitonin (PCT), IL-6, and sTREM-1 levels at 0, 24, and 72 h of admission. The prognostic evaluations were made using the Pediatric Risk of Mortality III (PRISM III) and Pediatric Logistic Organ Dysfunction (PELOD) scores. Patients were evaluated in terms of age, gender, prognosis, pathogen growth in culture, PRISM III and PELOD score, WBC, CRP, PCT, IL-6, and sTREM-1 levels and a comparison was made between groups., Results: There was no significant difference between all groups in terms of the 0-, 24-, and 72-h sTREM-1 values (p = 0.761, p = 0.360, and p = 0.822, respectively). CRP and PCT values did not differ between the septic shock, sepsis, and SIRS groups at 0, 24, and 72 h. In the septic shock group, the 0-h IL-6 value was significantly higher than that of the SIRS group (p = 0.025). The 24-h IL-6 value in the septic shock group was significantly higher than the values of the sepsis and SIRS groups (p = 0.048 and p = 0.043, respectively). No significant difference was detected between the septic shock, sepsis, and SIRS groups in terms of IL-6 values at 72 h., Conclusion: sTREM-1 is not useful for the diagnosis of infection and for distinguishing between sepsis, septic shock, and SIRS since it does not offer a clear diagnostic value for PICU patients, unlike other reliable markers such as WBC, CRP, and PCT. Elevated IL-6 levels may indicate septic shock in PICU patients. More research on sTREM-1 is needed in this setting., Competing Interests: Declaration of Competing Interest The authors report no potential conflict of interest., (Copyright © 2021 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.)
- Published
- 2021
- Full Text
- View/download PDF
6. Tetanus; a forgotten infection disease: a report of two cases.
- Author
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Barlas ÜK, Kıhtır HS, Yeşilbaş O, Petmezci MT, Akçay N, Petmezci E, Hatipoğlu N, and Şevketoğlu E
- Subjects
- Adult, Humans, Male, Vaccination, Communicable Diseases, Tetanus diagnosis, Tetanus prevention & control
- Abstract
Background: Tetanus is an infectious disease that can be seen in all age groups in underdeveloped and developing countries, where vaccination programs are inadequate. In developed countries, it is reported more frequently in the adult age group, where the protection of vaccination is diminished and the doses are delayed., Case: In this report, we present generalized tetanus, which was observed in two male patients aged 12 and 6 years, admitted at different times, together with clinical course and treatment approaches. Both patients belong to different nationalities, who immigrated a couple of months before their application to our hospital. They applied with similar histories and complaints and were not vaccinated during infancy., Conclusion: With the development of vaccination programs, this disease with high morbidity and mortality can be prevented.
- Published
- 2020
- Full Text
- View/download PDF
7. A rare structural myopathy: Nemaline myopathy.
- Author
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Yeşilbaş O, Şevketoğlu E, Kıhtır HS, Ersoy M, Petmezci MT, Akkuş CH, Şahin Ö, and Ceylaner S
- Abstract
Nemaline myopathy, which is characterized by the accumulation of ''rod'' bodies in muscle fibers is a very rare inherited muscle disease. According to the underlying mutation, the disease has varying severity of clinical outcomes. Patients with severe forms of the disease die because of hypotonia, feeding difficulties, aspiration pneumonia, and respiratory failure in the neonatal or infancy period. Mild forms of the disease present with walking-swallowing difficulties and respiratory distress in late childhood or adulthood. A two-and-a-half-month-old boy was monitored in our Pediatric Intensive Care Unit with hypotonia, pneumonia, and respiratory distress. Nemaline myopathy was diagnosed as the result of a muscle biopsy. An advanced molecular examination revealed heterozygous mutations in the skeletal muscle α-actin (ACTA1) gene, which is the second most common cause of this disease. Nemaline myopathy should be kept in mind in patients of all age groups with respiratory failure and walking difficulty secondary to muscle weakness., Competing Interests: Conflict of Interest: No conflict of interest was declared by the authors.
- Published
- 2019
- Full Text
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8. Infant onset severe complement-mediated hemolytic uremic syndrome complicated by secondary sclerosing cholangitis.
- Author
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Yesilbas O, Sevketoglu E, Petmezci MT, Kihtir HS, Benzer M, Arikan C, Berdeli A, Baloglu H, and Baskan O
- Subjects
- Antibodies, Monoclonal, Humanized pharmacology, Atypical Hemolytic Uremic Syndrome therapy, Cholangitis, Sclerosing therapy, Complement Factor H, Complement Inactivating Agents pharmacology, Humans, Infant, Plasma Exchange methods, Atypical Hemolytic Uremic Syndrome complications, Cholangitis, Sclerosing etiology
- Published
- 2018
- Full Text
- View/download PDF
9. Hemolytic uremic syndrome with multiple organ involvement secondary to complement factor H p.Arg1215X mutation.
- Author
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Yeşilbaş O, Şevketoğlu E, Petmezci MT, Kıhtır HS, Benzer M, and Berdeli A
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- Antibodies, Monoclonal, Humanized therapeutic use, Atypical Hemolytic Uremic Syndrome complications, Atypical Hemolytic Uremic Syndrome therapy, Heterozygote, Humans, Infant, Male, Mutation, Plasma Exchange methods, Sequence Analysis, DNA, Atypical Hemolytic Uremic Syndrome genetics, Complement Factor H genetics
- Abstract
Complement mediated hemolytic uremic syndrome which is caused by excessive activation of the alternative complement system is a thrombotic microangiopathy. The disease frequently occurs as a result of mutations in the genes that regulates complement proteins. Complement factor H gene has the most common mutations. A nine-month-old male patient was transferred to pediatric intensive care unit with the diagnosis of hemolytic uremic syndrome. Nonsense heterozygous p.Arg1215X mutation in the complement factor H gene was detected. The patient who had pulmonary, intestinal and hepatic involvement accompanying acute renal failure was successfully treated with therapeutic plasma exchange and eculizumab. Nonsense heterozygous p.Arg1215X mutation is extremely rare and can cause severe hemolytic uremic syndrome. As far as we know, our patient is the third case with this mutation in the literature.
- Published
- 2017
- Full Text
- View/download PDF
10. Acute severe organophosphate poisoning in a child who was successfully treated with therapeutic plasma exchange, high-volume hemodiafiltration, and lipid infusion.
- Author
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Yesilbas O, Kihtir HS, Altiti M, Petmezci MT, Balkaya S, Bursal Duramaz B, Ersoy M, and Sevketoglu E
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- Atropine, Child, Humans, Infusions, Intravenous, Pralidoxime Compounds, Hemodiafiltration, Lipids administration & dosage, Organophosphate Poisoning therapy, Plasma Exchange, Salvage Therapy methods
- Abstract
Acute severe organophosphate poisoning is a serious complication seen in developing and agricultural countries. Pralidoxime and high dose atropine are the standard treatments. There is no consensus about acute severe organophosphate poisonings that are unresponsive to pralidoxime, atropine, and supportive therapies. We report a case of acute severe organophosphate poisoning that was unresponsive to standard treatments and successfully treated with high-volume continuous venovenous hemodiafiltration and therapeutic plasma exchange combined with lipid infusion. J. Clin. Apheresis 31:467-469, 2016. © 2015 Wiley Periodicals, Inc., (© 2015 Wiley Periodicals, Inc.)
- Published
- 2016
- Full Text
- View/download PDF
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