Browsing by Author "Ozbek, Mehmet Nuri"

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The Clinical and Laboratory Features of Patients With Triple a Syndrome: a Single-Center Experience in Turkey
(Springer, 2023) Yildirim, Ruken; Unal, Edip; Tekmenuray-Unal, Aysel; Tas, Funda Feryal; Ozalkak, Servan; Cayir, Atilla; Ozbek, Mehmet Nuri
Aim Triple-A Syndrome (TAS) is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia, and alacrimia. This disorder is caused by mutations in the AAAS gene. The aim of this study is to discuss the clinical, laboratory and molecular genetic analysis results of 12 patients with TAS. Method We evaluated 12 patients from 8 families. Clinical and laboratory data were retrospectively collected from the medical records of the patients in the database for the period 2015-2020. All exons and exon-intron junctions of the AAAS gene were evaluated by next-generation sequencing method. Detected variants were classified according to American Collage of Medical Genetics criteria. Results Alacrimia was found in all patients (100%); achalasia was found in 10 patients (83.3%) and adrenal insufficiency was found in 10 patients (83.3%). In addition, hyperreflexia(6/12), learning disability(5/12), hypernasal speech(5/12), muscle weakness(8/12), delayed walking(7/12), delayed speech(6/12), excessive sweating(7/12), optic atrophy(1/12), epilepsy(1/12), palmoplantar hyperkeratosis(5/12), multiple dental caries(9/12), atrophy of the thenar/hypothenar muscles(4/12) and short stature(4/12) were detected. The DHEA-S levels were measured in 10 patients and were found to be low in 8 of them. In all patients, the sodium and potassium levels were found to be normal. AAAS gene sequencing revealed four previously reported c.1066_1067del (p.Leu356fs*8), c.1432 C > T (p.Arg478*), c.688 C > T (p.Arg230*), and c.1368_1372del (p.Gln456fs*38) variants and two novel homozygous c.1250-1 G > A and c.398_399 + 2del variants in the AAAS gene. Conclusion We detected two novel variants in the AAAS gene. While the classic triad is present in 66.7% of the cases, neurological dysfunction, skin and dental pathologies also occur quite frequently. The earliest and most common finding of TAS is alacrimia. Therefore, adrenal insufficiency should be investigated in all patients with alacrimia and if necessary, genetic analysis should be performed for TAS. In addition, TAS should be followed up with a multidisciplinary approach since it involves many systems.
Evaluation of Children and Adolescents With Thalassemia Major in Terms of Osteoporosis: a Single-Centre Experience
(Mdpi, 2025) Orhan, Ozhan; Demir, Hasan; Demir, Hasan; Talay, Mehmet Nur; Talay, Mehmet Nur; Ozgun, Nezir; Ozbek, Mehmet Nuri; Orhan, Özhan; Özgün, Nezir; Özbek, Mehmet Nuri; Department of Internal Medical Sciences / Dahili Tıp Bilimleri Bölümü; 21.04. Department of Dental Services / Dişçilik Hizmetleri Bölümü; 10. Faculty of Medicine / Tıp Fakültesi; 21. Vocational School of Health Services / Sağlık Hizmetleri Meslek Yüksekokulu; 01. Mardin Artuklu University / Mardin Artuklu Üniversitesi
Background/Objectives: This study aimed to determine the frequency of osteoporosis in children and adolescents with thalassemia major (TM) and to identify risk factors for the early development of osteoporosis. Methods: This retrospective study included 27 patients under 18 years of age receiving regular blood transfusions and chelation therapy for TM at our hospital. Bone mineral density (BMD) was measured by dual-energy x-ray absorptiometry, and a lumbar spine Z-score <-2 was considered osteoporotic. Patients with osteoporosis were classified as Group 1 and those without osteoporosis as Group 2. Results: Osteoporosis was detected in 22.2% of the study population. The mean age was 13.83 +/- 2.85 years in Group 1 and 7.95 +/- 5.05 years in Group 2 (p = 0.012). Body weight and height were significantly lower in Group 1 (p = 0.012 and p = 0.004). Ferritin levels were 5306 +/- 1506 ng/mL in Group 1 and 2020 +/- 1205 ng/mL in Group 2, and the difference was significant (p = 0.001). Group 1 had significantly lower Ca and P levels (p < 0.001, p = 0.038). BMD was negatively correlated with ferritin (r = -0.791, p < 0.001) and positively correlated with calcium (r = 0.499, p = 0.008). Conclusions: Osteoporosis is a common condition in TM patients. Patients with risk factors should be followed more closely. These patients should be identified before BMD decreases. To prevent osteoporosis, regular BMD scans should be performed, calcium and vitamin D supplementation should be provided, and physical activity should be encouraged.
Evaluation of the Neurodevelopmental Status for Urea Cycle Disorders: Based on Clinical Experience
(Galenos Publ House, 2023) Köse, Melis; Ozbek, Mehmet Nuri; Kanar, Berat; Albayrak, Hatice Mutlu; Taş, İbrahim; Tekmenuray-unal, Aysel; Pektaş, Emine
Aim: Urea cycle disorders (UCD) still have poor neurological outcomes despite early diagnosis and treatment. We aimed to present the neurological outcomes of UCD patients and to determine the main simple and accessible factors affecting these outcomes. Materials and Methods: This was a descriptive cross-sectional study conducted in two pediatric metabolism centers on 29 patients from 25 unrelated families who were diagnosed and followed with UCD based on clinical presentation, neurological parameters, biochemical measurements, and molecular analysis. Results: Within the study population, the most common diagnosis was argininosuccinate synthase deficiency in 13 (44.82%) patients, followed by N-acetylglutamate synthase deficiency in five patients (17.24%), ornithine transcarbamylase deficiency in four patients (13.79%), arginase 1 deficiency in three patients (10.34%), carbamoyl phosphate synthase 1 deficiency in three patients (10.34%), and argininosuccinate lyase deficiency in one patient (3.44%). Peak ammonia levels were observed to be significantly higher in those patients with delayed milestones and patients who had Denver II <-2 standard deviation score results (p=0.032, p=0.026). Effect sizes were large in both groups. Delayed milestones were noted in 17 (94.4%) of the cases with peak ammonia >500 μmol/L (n=18). Those patients with abnormal neurological parameters had a significantly higher mean number of hyperammonemic episodes per year. Extracorporeal detoxification was given to eight patients, in combination with therapeutic hypothermia in two patients. Rapid regression was observed in brain edema in those who underwent therapeutic hypothermia. Conclusion: Our study emphasizes the effect of peak ammonia levels and the frequency of hyperammonemic episodes on neurological outcomes. There were still poor neurocognitive outcomes despite extracorporeal detoxification. This highlights the need to reassess current treatment strategies, including the threshold for starting extracorporeal detoxification if ammonia levels exceed 500 µmol/L. The use of therapeutic hypothermia by experienced teams may be promising due to its brain edema-reducing effects.
Citation - WoS: 1
Citation - Scopus: 1
Evaluation of the Results of the Patients Who Underwent Plasmapheresis in the Pediatric Intensive Care Unit
(Tubitak Scientific & Technological Research Council Turkey, 2024) Talay, Mehmet Nur; Talay, Mehmet Nur; Orhan, Ozhan; Kangin, Murat; Orhan, Özhan; Turanli, Ese Eda; Özbek, Mehmet Nuri; Ozbek, Mehmet Nuri; Department of Internal Medical Sciences / Dahili Tıp Bilimleri Bölümü; 10. Faculty of Medicine / Tıp Fakültesi; 01. Mardin Artuklu University / Mardin Artuklu Üniversitesi
Background/aim: Therapeutic plasma exchange (TPE) is an extracorporeal treatment method that removes large molecular weight substances from plasma. In our study, we aimed to retrospectively examine the indications and procedural methods of the patients who had undergone TPE, and the complications that occurred during the procedure. Materials and methods: Forty-one patients who were monitored in thePICU of Gazi Ya & scedil;argil Training and Research Hospital and had indications for TPE between 2017 and 2021 were included in the study. Laboratory parameters were checked before and after the TPE procedure. In addition to these, patients' diagnosis, weight, type of procedure and type of device, where the procedure was performed, duration of the procedure, amount of blood and plasma processed, complications, number of procedures, and death during the procedure or independent of the procedure were evaluated. Results: The median age was 93.0 (14.0-167.0) months. Hemolytic uremic syndrome (HUS) was the most common TPE indication with nine patients. The most common complication related to TPE was fever (11 patients), while no complication was observed in 18 patients. When laboratory results were evaluated according to American Society for Apheresis (ASFA) categories, a significant improvement was observed in the values of platelet, AST, ALT, LDH, urea, and creatinine in ASFA1 after TPE. No significant improvement was observed in ASFA2 (p > 0.05). In ASFA3, a significant improvement was observed in INR, AST, ALT, LDH, total bilirubin, creatinine, pH, and lactate values after TPE (p < 0.05). Five patients died from ASFA1, one from ASFA2, and three patients from ASFA3. Conclusion: Since significant adjustments are observed in clinical and laboratory values in sepsis-MOF, which is in the ASFA3 category, we believe that it should be evaluated in the ASFA2 or ASFA1 category in the early treatment of these diseases. In addition, we think that MIS -C cases, which have not been in any category according to ASFA, should be included in the ASFA2 or ASFA3 category, considering our TPE results.
Hyperinsulinemic Hypoglycemia in Childhood
(Pera Yayincilik Hizmetleri, 2023) Ozbek, Mehmet Nuri; Orhan, Ozhan
Hyperinsulinemic Hypoglycemia (HH) is the most common cause of permanent hypoglycemia, especially in the neonatal period. Childhood HH is mostly related to genes encoding proteins in the insulin secretion pathways, and may also be seen in syndromes such as Beckwidth Wiedemann, Kabuki, and Turner. The majority of congenital HH cases are the result of KATP channel gene defect. Most of these cases are unresponsive to diazoxide treatment. In this review, recent genetic studies and recent updates in treatment options in childhood HH are reviewed.
Our Treatment Experience in Poisoning With Calcium Channel Blockers: a Series of Twelve Cases
(Briefland, 2024) Talay, Mehmet Nur; Orhan, Ozhan; Ozbek, Mehmet Nuri; Kangin, Murat; Turanli, Ese Eda
Background: Intoxications with cardiovascular system drugs constitute a small percentage of all poisoning cases. Calcium Channel Blockers (CCBs) are the most common drug poisoning in this group. Objectives: We aimed to evaluate the effectiveness of treatments for CCB poisoning and add to the current body of literature by outlining the clinical treatments we employ for bradyarrhythmia, hypotension, and resistant vasodilation resulting from CCB poisoning, as well as sharing our clinical insights in this field. Methods: Twelve patients, ranging in age from 1 month to 18 years, were admitted to the Tertiary Paediatric Intensive Care Unit (PICU) for treatment of medication poisoning related to the CCB group. Patients who ingested several drugs that caused CCB were not allowed to participate in the trial. Results: Twelve patients were followed up in the PICU due to poisoning with CCB group drugs. Of the patients, 7 were male and 5 were female. Five of the patients had taken CCB medication with the purpose of committing suicide, and 7 of them accidentally. All of the patients who received CCB to commit suicide had taken verapamil. Five patients whose hypotension and bradycardia continued were administered inotropes. In addition to PI, calcium gluconate, intravenous lipid, glucagon, insulin, bicarbonate, and methylene blue were given as therapy to our symptomatic patients. Plasmapheresis was applied to a patient who was hospitalized in the PICU due to a sudden loss of consciousness. Conclusions: In the management of patients with CCB poisoning, the use of hyperinsulinemia euglycemia, intravenous lipid emulsion treatment, glucagon treatments, and treatments including methylene blue and extracorporeal life support should be considered in cases of resistant hypotension, bradycardia, and coma in the early period.
Unusual Case Report of Malignant Pheochromocytoma Presenting with STEMI
(Oxford University Press, 2023) Demir, Muhammed; Ozbek, Mehmet Nuri; Guzel, Tuncay; Aktan, Adem
Background: Pheochromocytomas (PHEOs) are a group of tumours that leads to multiple symptoms and can induce hypercoagulability and promote thrombosis. Pheochromocytomas may also present without elevated serum and urinary markers. We aimed to provide tips and tricks for the diagnostic and therapeutic management of an unusual case of PHEOs. Case summary: Thirty-four-year-old woman with the unremarkable medical history presented with epigastric pain and dyspnoea. Electrocardiogram showed ST-segment elevation in the inferior limb leads. She underwent an emergency coronary angiogram, which showed a high thrombus burden in the distal right coronary artery. A subsequent echocardiogram demonstrated a 31 × 33mm right atrial mass adhering to the inferior vena cava and abdominal computed tomography (CT) scan revealed a 113 × 85mm necrotic mass in the left adrenal bed, with tumour thrombus extending proximally to the confluence of hepatic veins immediately inferior to the right atrium and distally to iliac vein bifurcation. Blood parameters, thrombophilia panel, vanillylmandelic acid, 5 hydroxy indole acetic acid, and homovanillic acid levels were normal. Tissue sampling confirmed the diagnosis of PHEOs. The surgical procedure was not planned due to the presence of metastatic foci on imaging, including positron emission tomography (PET)-CT. Anticoagulation with rivaroxaban and treatment with 177Lu-DOTATATE-based peptide receptor radionuclide therapy (PRRT) was initiated. Discussion: The coexistence of arterial and venous thrombosis is extremely rare in patients with PHEOs. Multidisciplinary approaches are required for the care of such patients. Catecholamines likely contributed to the development of thrombosis in our patient. Early recognition of PHEOs is the key point to ameliorate clinical outcomes. © 2023 Elsevier B.V., All rights reserved.