Yazar "Özbek, Mehmet Nuri" seçeneğine göre listele
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Öğe The clinical and laboratory features of patients with triple A syndrome: a single-center experience in Turkey(Springer, 2023) Yıldırım, Ruken; Ünal, Edip; Ünal, Aysel Tekmenuray; Taş, Funda Feryal; Özalkak, Şervan; Çayır, Atilla; Özbek, Mehmet NuriAim: 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.Öğe The effect of chronic DOAC treatment on clinical outcomes of hospitalized patients with COVID-19(John Wiley and Sons Inc, 2021) Aslan, Burhan; Akyüz, Abdurrahman; Işık, Ferhat; Çap, Murat; İnci, Umit; Kaya, İlyas; Karahan, Mehmet Zülküf; Aktan, Adem; Bilge, Önder; Özbek, Mehmet NuriBackground: Recent findings indicate that thrombosis is one of the underlying pathophysiology and complication of COVID-19 infection. Therefore, the prognosis of the disease may be more favourable in people who were under oral anticoagulant treatment before the COVID-19 diagnosis. This study aims to evaluate the effects of chronic DOAC use on ICU admission and mortality in hospitalized patients due to COVID-19 infection. Method: Between 1 September and 30 November 2020, 2760 patients hospitalized in our hospital due to COVID-19 were screened. A total of 1710 patients who met the inclusion criteria were included in the study. The patients were divided into two groups as those who use DOAC due to any cardiovascular disease before the COVID-19 infection and those who do not. Results: Seventy-nine patients were enrolled in the DOAC group and 1631 patients in the non-DOAC group. Median age of all study patient was 62 (52-71 IQR) and 860 (50.5%) of them were female. The need for intensive care, in-hospital stay, and mechanical ventilation were observed at higher rates in the DOAC group. Mortality was observed in 23 patients (29%) in the DOAC group, and it was statistically higher in the DOAC group (P =.002). In the multivariable analysis, age (OR: 1.047, CI: 1.02-1.06, P <.001), male gender (OR: 1.8, CI: 1.3-2.7, P =.02), lymphocyte count (OR: 0.45, CI: 0.30-0.69, P <.001), procalcitonin (OR: 1.12, CI: 1.02-1.23, P =.015), SaO2 (OR: 0.8, CI: 0.77-0.82, P <.001) and creatinine (OR: 2.59, CI: 1.3-5.1, P =.006) were found to be associated with in-hospital mortality. DOAC treatment was not found to be associated with lower in-hospital mortality in multivariable analysis (OR:1.17, CI: 0.20-6.60, P =.850). Conclusion: Our study showed that the use of DOAC prior to hospitalization had no protective effect on in-hospital mortality and intensive care need in hospitalized COVID-19 patients.Öğe Infantile iatrogenic Cushing's syndrome(2008) Katar, Selahattin; Akdeniz, Sedat; Özbek, Mehmet Nuri; Yaramış, AhmetHigh potency or/and extended use of topical corticosteroids, particularly in children, may cause suppression of the hypothalamopituitary-adrenal axis. However, iatrogenic Cushing's syndrome in infantile age group is very rare and only a few patients have been reported to date in the literature. Here, we report a case of iatrogenic Cushing's syndrome in a 6-month-old male child whose parents have admitted to the hospital for overweight and skin fragility.Öğe Investigation of the effect of comorbid psychopathologies on glycemic control in children and adolescents with type 1 diabetes mellitus(ANP Publishing, 2022) Kardaş, Burcu; Kardaş, Ömer; Demiral, Meliha; Ünal, Edip; Özbek, Mehmet NuriObjective: The presence of comorbid psychiatric conditions in chronic diseases makes the management of the disease difficult. Our study, we aimed to examine the relationship between psychiatric comorbid conditions and glycemic control in children and adolescents with Type 1 Diabetes. Method: In our study, depending on the number of patients, good and moderate controls were evaluated as a single group, and HbA1c levels of 8.5 and below were included in this group. Children for Depression Inventory (CDI), Screen for Child Anxiety-Related Emotional Disorders (SCARED), Turgay Child and Adolescent Behavioral Disorders Based on DSM-IV Screening and Evaluation Scale were applied. The case and parents were evaluated with K-SADS-PL.Among 778 diabetic patients who were followed up in the pediatric endocrinology clinic, 73 cases between the ages of 8 and 17 who were followed up regularly, who did not have any comorbidities and who accepted to participate in the study were evaluated psychiatrically. Results: Of the 73 cases included in the study, 29 were accepted as the patients with good glycemic control (HbA1c≤8.5 mg / dl), and 44 as with poor glycemic control (HbA1c> 8.5mg / dl). In cases with poor glycemic control, parents' education level and income level were significantly lower, while the rate of attention deficit and hyperactivity disorder, major depressive disorder, social anxiety disorder and psychopathology was significantly higher. Discussion: The findings of this study revealed that there are many factors affecting glycemic control and there is a strong relationship between glycemic control and psychopathologies.Öğe Is isolated autoantibody seropositivity a risk factor in the development of diabetic nephropathy in type 1 diabetic children?(Türk Nefroloji Derneği, 2023) Taktak, Aysel; Kara, Mehtap Akbalık; Çiçek, Neslihan; Alparslan, Caner; Ünal, Edip; Ağın, Mehmet; Özbek, Mehmet NuriObjective: Diabetic nephropathy is one of the most important complications in diabetes mellitus. We aimed to examine the influence of organ-specific antibody seropositivity in diabetic nephropathy. Methods: Patients with type 1 diabetes and no evidence of celiac disease, thyroid dysfunction, and other kidney diseases and with an annual average HbA1c level <10%, body mass index <25 kg/m2 , and normal blood pressure were enrolled. Results: Eighty patients (39 boys and 41 girls) were evaluated. Twenty patients with moderately increased albuminuria (diabetic nephropathy group) and 60 patients without albuminuria (control group) showed no statistical difference in age, gender, diabetes duration, age at diagnosis, kidney function tests, and mean blood pressure measurements. Compared to control group, the mean anti-thyroglobulin level and anti-thyroxin peroxidase level were statistically higher in the diabetic nephropathy group, P = .004 and P = .045, respectively. However, the thyroid function tests were normal in either group. Conclusion: Determination of the impact of autoantibody seropositivity on the risk of diabetic nephropathy in type 1 dia betic children could be a non-traditional marker in the risk assessment of diabetic nephropathy.Öğe Nationwide Turkish cohort study of hypophosphatemic rickets(Galenos Yayincilik, 2020) Şıklar, Zeynep; Turan, Serap; Bereket, Abdullah; Baş, Firdevs; Güran, Tülay; Akberzade, Azad; Abacı, Ayhan; Demir, Korcan; Böber, Ece; Özbek, Mehmet Nuri; Kara, Cengiz; Poyrazǒglu, Şükran; Aydın, Murat; Kardelen, Aslı Derya; Tarım, Ömer Faruk; Eren, Erdal; Hatipoǧlu, Nihal; Büyükinan, Muammer; Akyürek, Nesibe; Çetinkaya, Semra Çaǧlar; Bayramoǧlu, Elvan; Eklioǧlu, Beray Selver; Uçaktürk, Ahmet; Abali, Saygin; Gökşen, Damla; Kör, Yilmaz; Ünal, Edip; Esen, İhsan; Yıldırım, Ruken; Akın, Önur; Çayır, Atilla; Dilek, Emine; Kırel, Birgül; Anık, Ahmet; Çatlι, Gönül; Berberoǧlu, MerihObjective: Hypophosphatemic rickets (HR) is a rare renal phosphate-wasting disorder, which is usually X-linked and is commonly caused by PHEX mutations. The treatment and follow-up of HR is challenging due to imperfect treatment options. Methods: Here we present nationwide initial and follow-up data on HR. Results: From 24 centers, 166 patients were included in the study. Genetic analysis (n=75) showed PHEX mutation in 80% of patients. The mean follow-up period was 6.7±2.4 years. During the first 3-years of treatment (n=91), mild increase in phosphate, decrease in alkaline phosphatase and elevation in parathyroid hormone (PTH) levels were detected. The height standard deviation scores were-2.38,-2.77,-2.72,-2.47 at initial, 1st, 2nd and 3rd year of treatment, respectively (p>0.05). On follow-up 36% of the patients showed complete or significant improvement in leg deformities and these patients had similar phosphate levels at presentation with better levels in 1st and 2nd years of treatment; even the treatment doses of phosphate were similar. Furthermore, 27 patients developed nephrocalcinosis (NC), the patients showed no difference in biochemical differences at presentation and follow-up, but 3rd year PTH was higher. However, higher treatment doses of phosphate and calcitriol were found in the NC group. Conclusion: HR treatment and follow-up is challenging and our results showed higher treatment doses were associated with NC without any change in serum phosphate levels, suggesting that giving higher doses led to increased phosphaturia, probably through stimulation of fibroblast growth factor 23. However, higher calcitriol doses could improve bone deformities. Safer and more efficacious therapies are needed.Öğe Platelet-to-lymphocyte ratio is a predictor of long-term mortality in patients with acute coronary syndrome(Termedia Publishing House Ltd., 2020) Oylumlu, Mustafa; Oylumlu, Muhammed; Arslan, Bayram; Polat, Nihat; Özbek, Mehmet Nuri; Demir, Muhammed; Yıldız, Abdulkadir; Toprak, NizamettinIntroduction: Atherosclerosis is a chronic inflammatory process and inflammation is an important component of acute coronary syndrome (ACS). Platelet-to-lymphocyte ratio (PLR) is a useful parameter showing the degree of the inflammatory response. Aim: To explore the association between PLR and long-term mortality in patients with ACS. Material and methods: A total of 538 patients who had a diagnosis of ACS between January 2012 and August 2013 were followed up to 60 months. On admission, blood sampling to calculate PLR and detailed clinical data were obtained. Results: In total, 538 patients with a mean age of 61.5 ±13.1 years (69% male) were enrolled in the study. Median follow-up was 79 months (IQR: 74–83 months). Patients were divided into 3 tertiles based on PLR levels. Five-year mortality of the patients was significantly higher among patients in the upper PLR tertile when compared with the lower and middle PLR tertile groups (55 (30.7%) vs. 27 (15.0%) and 34 (19.0%); p < 0.001, p = 0.010 respectively). In the Cox regression analysis, a high level of PLR was an independent predictor of 5-year mortality (OR = 1.005, 95% CI: 1.001–1.008, p = 0.004). Kaplan-Meier analysis according to the long-term mortality-free survival revealed the higher occurrence of mortality in the third PLR tertile group compared to the first (p < 0.001) and second tertiles (p = 0.009). Conclusions: PLR, which is an easily calculated and universally available marker, may be useful in long-term risk classification of patients presenting with ACS.Öğe Revisiting the annual incidence of type 1 diabetes mellitus in children from the Southeastern Anatolian Region of Turkey: A regional report(Galenos Yayınevi, 2022) Özalkak, Şervan; Yıldırım, Ruken; Tunç, Selma; Ünal, Edip; Taş, Funda Feryal; Demirbilek, Hüseyin; Özbek, Mehmet NuriObjective: The incidence of type 1 diabetes mellitus (T1D) in children has an increasing trend globally, with a variable rate depending on region and ethnicity. Our group first reported T1D incidence in Diyarbakır in 2011. The aim of this study was to evaluate the current incidence rate of pediatric T1D in Diyarbakır, and compare the incidence, and clinical and presenting characteristics of more recent cases with those reported in our first report. Methods: Hospital records of patients diagnosed with T1D in Diyarbakır city between 1st January 2020 and 31st December 2020 and aged under 18 years old were retrieved, and their medical data was extracted. Demographic population data were obtained from address-based census records of the Turkish Statistical Institution (TSI). Results: Fifty-seven children and adolescents were diagnosed with T1D. Of those, 34 were female (59.6%), indicating a male/female ratio of 1.47. The mean age at diagnosis was 9.5±3.9 years (0.8-17.9). TSI data indicated a population count of 709,803 for the 0-18 years age group. Thus the T1D incidence was 8.03/105 in the 0-18 age group and was higher in the 0-14 age group at 9.14/105. The cumulative increase in the incidence of T1D in the 0-14 age group was 26.9% suggesting an increasing rate of 2.7% per year. The frequency of presentation with diabetic ketoacidosis was 64.9%. Conclusion: The annual incidence of pediatric T1D in Diyarbakır city increased from 7.2/105 to 9.14/105 within the last decade. The rate of annual increase was 2.7% in the 0-14 age group comparing this study with our earlier report, with a predominance in male subjects and a shift of peak incidence from the 5-9 year age group in the first study to the 10-14 year age group in this one.Öğe Tüberküloz menenjitli çocuklarda akciğer grafisi ile toraks tomografi bulgularının değerlendirilmesi(Dicle Üniversitesi, Tıp Fakültesi, 2001) Özbek, Mehmet Nuri; Taş, Mehmet AliTüberküloz menenjit erken dönemlerde tanı ve tedavisi yapılmadığı taktirde %50-70'lere varan mortalite oranına sahip bir hastalıktır. Tüberküloz menenjit çocukluk çağında genellikle primer akciğer infeksiyonun ilk 2-6 ayı içerisinde geliştiğinden, radyolojik olarak akciğerdeki bu lezyonlann gösterilmesi erken tanı ve tedavide büyük önem taşımaktadır. Çalışmaya Çocuk infeksiyon Hastalıkları kliniğinde tüberküloz menenjit tanısıyla izlenen 28 hasta alındı. Hastaların %68'i erkek, %32'si kız ve yaş ortalamaları 4.7 yıl olarak bulundu. Kliniğe başvurduğu ilk 1-2 hafta içinde akciğer grafileri ve toraks BT'leri çekildi. Sekiz (%28.5) hastanın başvuru esnasında çekilen akciğer grafileri normal olarak değerlendirildi. Akciğer grafisi ile hastaların 17'sinde (%60.7) lenfadenopati, 13'ünde (%46.4) parankimal lezyonlar tespit edilirken, toraks BT ile 23'ünde (%82.1) lenfadenopati, 24'ünde (%85.7) parankimal lezyon saptandı. Ayrıca toraks BT ile lezyonlann yapısı, lokalizasyonu ve yaygınlığı daha net tespit edildi. Sonuç olarak tüberküloz menenjit gibi mortalitesi ve sekel oranı yüksek olan, tanısında bugün halen sorunlar yaşanılan bir hastalığın erken tanı ve tedavisi için, akciğer grafisinde normal ya da şüpheli lezyonları olan olgularda toraks BT çekilmesinin faydalı olacağı kanaatindeyiz.Öğe Yenidoğan döneminde önemli bir sorun: Hipernatremik dehidratasyon(2010) Taşkesen, Mustafa; Özbek, Mehmet Nuri; Katar, Selahattin; Akgün, AbdurrahmanAmaç: Son dönemlerde anne sütüyle beslenen yenidoğanlarda, morbidite ve mortalitesi yüksek olan hipernatremik dehidratasyon sık bildirilmektedir. Bu çalışmanın amacı hipernatremik term yenidoğan hastaların demografik özelliklerini, klinik, laboratuar bulguları ve takip sonuçlarını değerlendirmektir. Gereç ve Yöntem: Yenidoğan Yoğun Bakım Ünitesi’ne Ocak– 2006 ile Haziran-2008 tarihleri arasında hipernatremik dehidratasyon (Na:>150 mmol/L) tanısıyla yatırılan toplam 31 term yenidoğan hasta çalışmaya alındı. Bulgular: Olguların doğum ağırlığı ortalama 3362±711,3 gr, ortalama başvuru yaşı 6,3±3,4 gün olarak tespit edildi. Olguların tümü anne sütü ile beslenmişti. Hastaların % 19,4’ü evde, % 64,5’i başka hastanelerde, % 12,9’u hastanemizde, % 3,2’si sağlık ocağında doğmuştu. En sık başvuru şikayeti % 61,3 sarılık ve % 19,4 emmeme ve emmede zayıflık idi. Hastaların başvuruda yapılan laboratuar incelemelerinde ortalama serum sodyum değerleri 161,7±12,8 mmol/L olarak bulundu. Anne sütü sodyum ölçümü yapılan dört annenin ikisinde 100 mmol/L üzerinde, ikisinde ise 78 mmol/L ve 43 mmol/L olarak tespit edildi. Kranial MR görüntülemede bir olguda (% 3,2) subdural kanama, üç olguda ise (% 9,7) her iki hemisferde oksipital ve bazal ganglionlarda yaygın peteşial kanama tesbit edildi. Takipte iki olguda (% 6,5) motor retardasyon, iki olguda (% 6,5) motor-mental retardasyon tespit edildi. İki olgu (% 6,5) ise kaybedildi. Sonuç: Morbidite ve mortalitesi yüksek bir sağlık sorunu olan yenidoğan dönemindeki hipernatremik dehidratasyon, bazı tedbirlerle önlenebilir. Özellikle yenidoğan bebeklerin ilk günlerde rutin muayene edilmesi erken tanı ve tedavi için önemlidir. Erken taburculuk, evde doğum, ilk gebelik, sezaryen doğum ve sıcak mevsimlerde doğum hipernatremi için önemli riskler olduğunu düşünmekteyiz.Öğe YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress(American Society for Clinical Investigation, 2020) de Franco, Elisa; Lytrivi, Maria; Ibrahim, Hazem; Montaser, Hossam; Wakeling, Matthew Neil; Fantuzzi, Federica; Patel, Kashyap A.; Demarez, Céline; Cai, Ying; Igoillo-Esteve, Mariana; Cosentino, Cristina; Lithovius, Väinö; Vihinen, Helena; Jokitalo, Eija; Laver, Thomas William; Johnson, Matthew B.; Sawatani, Toshiaki; Shakeri, Hadis; Pachera, Nathalie; Haliloǧlu, Belma; Özbek, Mehmet Nuri; Ünal, Edip; Yıldırım, Ruken; Godbole, Tushar R.; Yıldız, Melek; Aydın, Banu Küçükemre; Bilheu, Angéline; Suzuki, Ikuo K.Neonatal diabetes is caused by single gene mutations reducing pancreatic β cell number or impairing β cell function. Understanding the genetic basis of rare diabetes subtypes highlights fundamental biological processes in β cells. We identified 6 patients from 5 families with homozygous mutations in the YIPF5 gene, which is involved in trafficking between the endoplasmic reticulum (ER) and the Golgi. All patients had neonatal/early-onset diabetes, severe microcephaly, and epilepsy. YIPF5 is expressed during human brain development, in adult brain and pancreatic islets. We used 3 human β cell models (YIPF5 silencing in EndoC-βH1 cells, YIPF5 knockout and mutation knockin in embryonic stem cells, and patient-derived induced pluripotent stem cells) to investigate the mechanism through which YIPF5 loss of function affects β cells. Loss of YIPF5 function in stem cell–derived islet cells resulted in proinsulin retention in the ER, marked ER stress, and β cell failure. Partial YIPF5 silencing in EndoC-βH1 cells and a patient mutation in stem cells increased the β cell sensitivity to ER stress–induced apoptosis. We report recessive YIPF5 mutations as the genetic cause of a congenital syndrome of microcephaly, epilepsy, and neonatal/early-onset diabetes, highlighting a critical role of YIPF5 in β cells and neurons. We believe this is the first report of mutations disrupting the ER-to-Golgi trafficking, resulting in diabetes.
