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Your search keyword '"Dündar, İsmail"' showing total 3 results
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3 results on '"Dündar, İsmail"'

1. Clinical and Laboratory Characteristics of MODY Cases, Genetic Mutation Spectrum and Phenotype-genotype Relationship.

Author

Özsu, Elif, Çetinkaya, Semra, Bolu, Semih, Hatipoğlu, Nihal, Erdeve, Şenay Savaş, Evliyaoğlu, Olcay, Baş, Firdevs, Çayır, Atilla, Dündar, İsmail, Akbaş, Emine Demet, Uçaktürk, Seyid Ahmet, Berberoğlu, Merih, Şıklar, Zeynep, Özalkak, Şervan, Şahin, Nursel Muratoğlu, Keskin, Melikşah, Şiraz, Ülkü Gül, Turan, Hande, Öztürk, Ayşe Pınar, and Mengen, Eda

Subjects
METFORMIN, MATURITY onset diabetes of the young, TURKS, HYPOGLYCEMIC agents, ORAL drug administration, DIABETIC acidosis, DESCRIPTIVE statistics, GENETIC variation, HYPERGLYCEMIA, GENETIC mutation, INSULIN secretagogues, DATA analysis software, PHENOTYPES, GENOTYPES, GENETIC testing, OBESITY, CHILDREN
Abstract

Objective: Maturity onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY. Methods: MODY cases from 14 different pediatric endocrinology departments were included. Diagnosis, treatment, follow-up data, and results of genetic analysis were evaluated. Results: A total of 224 patients were included, of whom 101 (45%) were female, and the mean age at diagnosis was 9.4±4.1 years. Gene variant distribution was: 146 (65%) GCK; 43 (19%) HNF1A; 8 (3.6%) HNF4A, 8 (3.6%) KLF11 and 7 (3.1%) HNF1B. The remaining 12 variants were: PDX (n=1), NEUROD1 (n=3), CEL (n=1), INS (n=3), ABCC8 (n= 3) and KJNC11 (n=1). Of the cases, 197 (87.9%) were diagnosed with incidental hyperglycemia, 16 with ketosis (7%) and 7 (3%) with diabetic ketoacidosis (DKA), while 30% presented with classical symptoms of diabetes. Two-hundred (89%) had a family history of diabetes. Anti-GAD antibody was detected in 13 cases, anti-islet antibody in eight and anti-insulin antibody in four. Obesity was present in 16. Distribution of therapy was: 158 (71%) diet only; 23 (11%) intensive insulin treatment; 17 (7.6%) sulfonylureas; 10 (4.5%) metformin; and 6 (2.7%) insulin and oral anti-diabetic treatment. Conclusion: This was the largest genetically diagnosed series from Turkey. The most common gene variants were GCK and HNF1A with much lower proportions for other MODY types. Hyperglycemia was the most common presenting symptom while 11% of patients had diabetes-associated autoantibodies and 7% were obese. The majority of patients received dietary management only. [ABSTRACT FROM AUTHOR]

Published
2024
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2. The Effectiveness of Cinacalcet as an Adjunctive Therapy for Hereditary 1,25 Dihydroxyvitamin D3-Resistant Rickets.

Author

Akıncı, Ayşehan, Dündar, İsmail, and Kıvılcım, Meltem

Subjects
*HYPERPARATHYROIDISM, *RICKETS treatment, *BALDNESS, *ALKALINE phosphatase, *CALCIUM, *CELL receptors, *CLINICAL drug trials, *GENETIC disorders, *HYPOCALCEMIA, *PARATHYROID hormone, *RICKETS, *VITAMIN D, *DISEASE complications, *DIAGNOSIS
Abstract

High doses of oral calcium or long-term calcium infusions are recommended to correct the hypocalcemia and secondary hyperparathyroidism in patients with hereditary 1,25 dihydroxyvitamin D3-resistant rickets (HVDRR). Preliminary studies revealed that calcimimetics may be a safe and effective therapeutic choice in children with secondary hyperparathyroidism. Our aim was to observe the efficacy of cinacalcet in the normalization of secondary hyperparathyroidism and hypophosphatemia in two siblings aged 2.5 years and 6 months with HVDRR who did not respond to traditional treatment regimes. Both patients were admitted to the hospital with severe hypocalcemia. They were treated with high doses of calcitriol and calcium infusions intravenously. Secondary hyperparathyroidism was normalized temporarily, but did not improve completely. Cinacalcet (0.25 mg/kg) once a day along with the high doses of oral calcium and calcitriol was added to the treatment schedule. After 3 months, biochemical and radiologic findings reverted to normal. Our findings indicate that cinacalcet is effective in normalizing the hyperparathyroidism and hypophosphatemia in these cases and in improving the bone pathology. [ABSTRACT FROM AUTHOR]

Published
2017
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3. Menenjitli hastalarda hızlı tanı yöntemlerinin değerlendirilmesinin önemi

Author

Kilçik Aslan, Arzu, Dündar, İsmail Hakkı, and Klinik Bakteriyoloji ve Enfeksiyon Hastalıkları Anabilim Dalı

Subjects
Clinical Microbiology and Infectious Diseases, Diagnosis, Klinik Bakteriyoloji ve Enfeksiyon Hastalıkları, Meningitis
Abstract

ÖZET Santral sinir sistemi (S S S) enfeksiyonları fatalitesi oldukça yüksek ve tedavisinin olabildiğince erken sürede başlanması gereken enfeksiyonlardır. Modern antimikrobiyal tedavinin gelişmesi ile menenjitlerin ölümcül prognozu azaltılabilmektedir. Bununla birlikte SSS enfeksiyonlarında uygun tedavinin yapılabilmesi için doğru ve hızlı tanısının konulabilmesi şarttır. SSS enfeksiyonu olan hastalan değerlendirmede birçok test kullanılabilir. Beyin omurilik sıvısı (BOS) analizi SSS enfeksiyonu düşünülen hastaların tanısının konulmasmda en önemli role sahiptir. Gram boyası ve uygun kültür hala önemini korumakla birlikte duyarlı ve hızlı agglutinasyon testlerinin uygulanması bakteriyel menenjitlerin erken ayırıcı tanısını kolaylaştırır. Bu testlerden biri olan Limulus amebocyte lizat (LAL) testi BOS'da gram negatif bakteri endotoksinini bulmada duyarlı bir yöntemdir. Bu çalışma, Ocak 1994-Haziran 1997 arasında menenjit ön tanılı hastalarda BOS laboratuvar bulgularını ve tedavideki önemini değerlendirmek amacıyla yapılmıştır. Kliniğimizde menenjit ön tanılı hastaların yaşlan 14-75 arasında ve yaş ortalaması 32.6±16. l'di. Menenjit türü oranlan sırasıyla %42.2 bakteriyel menenjit, %36.2 tüberküloz menenjit ve %21.9'u viral menenjit olarak değerlendirilmiştir. Bu hastalarda fatalite hızı %27.47' idi. Bakteriyel menenjitte gram boyası %57.8, bakteriyel antijen tayini %19.78 ve kültür %28.94 oranında pozitif bulunmuştur. Tüberküloz menenjitte kültür %24.4, direkt aside rezistan basil (dARB) oranı %18.1 ve adenosine deaminaz (ADA) pozitifliği %60 (10 IU/L'nin üstünde) bulunmuştur. Limulus amebocyte lizat (LAL) pozitifliği bakteriyel menenjit ön tandı olguların hiçbirinde saptanmamıştır. Anahtar Kelimeler: Menenjit, BOS, gram boyası, agglutinasyon testi, limulus amebocyte lizat (LAL) testi. IV ABSTRACT ACUTE DIAGNOSIS OF CEREBROSPINAL FLUID LABORATORY FINDINGS IN MENINGITIS PATIENTS Prompt and accurate diagnosis of central nervous system (CNS) infections is of vital importance to the emergency physician. With the advent of modern antimicrobial therapy, the nearly uniformly fatal outcome of untreated meningitis can be reduced substantially. Proper test selection is crucial in arriving at a correct and timely diagnosis. A variety of tests are currently available for evaluation of the patient with CNS infection. Analysis of the cerebrospinal fluid (CSF) has become an indispensable procedure in evaluating the patient with a suspected CNS infection. Gram stain and appropriate culture procedures still provide the basis for comparing other diagnostic methods. The advent of very sensitive and rapid agglutination tests has been a major advance in facilitating rapid diagnosis of meningitis. The limulus amebocyte lysate (LAL) assay is a very sensitive and specific assay for the detection of endotoxin in CSF. The aim of this study which was carried out between January 1994- June 1997 was to evaluate the CSF laboratory findings. In patients which had been diagnosed as meningitis, patients were between 14-75 years of age and age ratio was 32.6+16.1. The ratio of meningitis was, 42.2% bacterial, 36.2% tuberculosis, 21.9% viral meningitis. The rate of mortality in these patients were 27.47%. In bacterial meningitis the percentage of gram stain was 57.8%, bacterial antigen (latex agglutination ) 19.78% and culture 28.94%. In tuberculosis meningitis the percentage of culture was 24.4%. Acid fast bacilli were seen in the prcentage of 18.1% and adenosine deaminase activity which was >10IU/L, was found 60%. LAL positivity was seen neither of the bacterial meningitis. Key Words: Meningitis, CSF, Gram stain, Agglutination tests, Limulus amebocyte lysate (LAL). 59

Published
1998

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