şervan özalkak - Academia.edu (original) (raw)

Papers by şervan özalkak

Yearbook of Paediatric Endocrinology

JCRPE, Apr 26, 2024

What is already known on this topic? Maturity onset diabetes of the young (MODY) is the term used... more What is already known on this topic? Maturity onset diabetes of the young (MODY) is the term used to describe a group of inherited, non-autoimmune forms of diabetes mellitus (DM). MODY diagnosis is often made at a young age (under 25 years of age), negative pancreatic autoantibodies, low insulin requirement, family history of autosomal dominant diabetes, no history of obesity and no history of diabetic ketoacidosis (DKA). What this study adds? This large-series national study showed that the diagnostic criteria in the prediagnostic process of MODY should be reconsidered in the presence of DKA, the presence of antibody positivity and the absence of family history in patients with genetically diagnosed MODY.

Journal of Clinical Research in Pediatric Endocrinology, Oct 16, 2023

Objective: Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, co... more Objective: Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, congenital heart defects, and varying levels of developmental delays. It is a genetic, multisystem disorder with autosomal dominant inheritance and is the most common of the RASopathies. In approximately 50% of patients, NS is caused by variants in the Protein Tyrosine Phosphatase Non-Receptor Type 11 (PTPN11) gene. The aim of this study was to evaluate two patients with a previously reported PTPN11 homozygous variant for the first time and seven other kindred members carrying the same heterozygous variant in terms of clinical, biochemical, genetic, and response to treatment. Methods: Nine patients diagnosed with NS due to the same variants in the PTPN11 gene were included in the study. Results: The median (range) age at diagnosis was 11.5 (6.8-13.9) years and the mean follow-up duration was 4.7 (1-7.6) years. In eight patients (88.9%), short stature was present. The height standard deviation score of the patients on admission was-3.24±1.15. In six of the patients, growth hormone treatment was initiated. Cardiovascular or bleeding disorders were not detected in any of the patients. Three (33.3%) had hearing loss, two (22.2%) had ocular findings and one (11.1%) had a horseshoe kidney. The mean psychomotor development performance score was 84.03±17.09 and the verbal score was 82.88±9.42. Genetic analysis revealed a variant in the PTPN11 gene [c.772G>A; (p.Glu258Lys)] that had been previously described and was detected in all patients. Two patients were homozygous for this variant and short stature was more severe in these two. Conclusion: A previously described in PTPN11 affected nine members of the same kindred, two with homozygous inheritance and the remainder being heterozygous. To the best of our knowledge, these are the first homozygous PTPN11 case reports published, coming from two related consanguineous families.

Italian Journal of Pediatrics, Aug 13, 2022

Backgrounds: During the Coronavirus-19 disease (Covid-19) pandemic it was observed that the numbe... more Backgrounds: During the Coronavirus-19 disease (Covid-19) pandemic it was observed that the number of girls presenting with early puberty had increased. The aim of this study was to carry out a retrospective evaluation of the characteristics of girls who had been referred for evaluation of precocious puberty in five different pediatric endocrinology units, before and during the pandemic. Methods: The study participants comprised 359 girls who were assigned into 2 groups a pre-pandemic group (n:214) and a pandemic group (n:145). Those participants (n:99) who had medical records in the follow-up period were classified into 3 subgroups according to the time of presentation and follow-up visits (group-1: first admission and follow-up visit before the pandemic, group-2: first admission before the pandemic, the follow-up visit during the pandemic, group-3: first admission and follow-up visit during the pandemic). Results: The age at presentation and age at pubertal onset were both significantly lower in the pandemic group than those in the pre-pandemic group(8.1 vs 8.6, p: < 0.001,7.7 vs 7.9,p:0.013, respectively). There was no significant difference between the body mass index standard deviation scores (BMI-SDS) values of the groups (0.57 vs 0.51, p:0.430). The initiation rate of pubertal suppression therapy at the time of presentation was significantly higher in the pandemic group compared to that of the pre-pandemic group (7.7%vs 27.5%), and in groups-2 & 3 compared to group-1, during follow-up (20%&44%vs 8%). Conclusion: Our research showed that the onset of puberty occurred earlier in the pandemic period compared to the previous year, and the need for pubertal suppression therapy increased during the pandemic.

58th Annual ESPE Meeting (ESPE 2019), 2019

The aim of this study was to evaluate relationships between serum uric acid (SUA) and newly emerg... more The aim of this study was to evaluate relationships between serum uric acid (SUA) and newly emergent acute myocardial infarction (AMI), congestive heart failure (CHF), coronary artery disease (CAD), composite cardiovascular (CV) events (AMI, CHF, CAD), hypertension, hyperlipidemia, and renal disease in gout patients. Methods: Retrospective analysis of electronic medical records from Humedica identified adults (≥18 years) with 2 or more International Classification of Diseases, Ninth Revision, Clinical Modification codes for gout 30 days or more apart (first diagnosis = index event) having 1 or more SUA assessment on or after the index date, and at least 6 months preindex and at least 12 months postindex enrollment. Outcomes were measured during 12 months postindex; patients with preindex events were excluded from analysis of those events. The SUA level (0.01-4.00 mg/dL, 4.01-6.00 mg/dL, 6.01-8.00 mg/dL, and ≥8.01 mg/dL) was determined using the closest laboratory assessment before or on the date of the CV event. Tukey-Kramer comparisons were performed for pairs of SUA strata and Cox proportional model estimated hazard ratios. Results: A significantly higher incidence of AMI, CHF, and renal disease was observed for patients with 8.01 mg/dL or greater relative to other SUA levels (P < 0.0001), and a significantly higher incidence of composite CV events (AMI, CHF, and CAD) was observed for hypouricemia (SUA, 0.01-4.00 mg/dL) compared with other SUA levels (P < 0.0001). Cox models confirmed the increased risk associated with SUA 8.01 mg/dL or greater; hazard ratios ranged from 1.16 for hypertension to 2.04 for renal disease. Hyperlipidemia and hypertension were diagnosed concurrently with gout in 24% and 28% of patients, respectively. Conclusions: Hyperuricemia and hypouricemia were associated with an increased risk of CV events.

İzmir tepecik eğitim hastanesi dergisi, 2006

Background: Osteopetrosis is an inherited and rare bone disease, characterized by the impairment ... more Background: Osteopetrosis is an inherited and rare bone disease, characterized by the impairment of bone modeling and remodeling and the failure of osteoclasts to resorb bone. It also results in skeletal fragility despite increased bone mass, and may cause hematopoietic insufficiency, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. The infantile form of the disease is the most severe one with a poor prognosis. If untreated, it will result in death by the first decade of life. Case report: A term 10-day-old female neonate with a birth weight of 2850 grams delivered by caesarian section was reported without a history of parents' consanguinity from a healthy, gravida 2, para 1, abort 1 mother with no complication during pregnancy. The newborn admitted to the neonatal ward due to diffuse petechiae, purpura on the skin, and periorbital ecchymosis (raccoon eyes), without any other abnormal significant signs and symptoms. In laboratory findings except for frequent low platelet count as low as 10000-25000, there wasn't any other abnormalities. Other coagulative tests were within normal ranges. In addition to antibiotics for probable sepsis, platelet transfusion was considered as the treatment, and due to the lack of proper response to the treatment, with suspicious of alloimmune thrombocytopenia, two courses of IV IgG were administered. Eventually, the persistent thrombocytopenia in spite of mentioned treatment led to further investigation , and finally osteopetrosis was diagnosed by the result of brain CTS. The patient was discharged from the hospital with a moderate thrombocytopenia while she needed frequent platelet transfusion. Eventually with bone marrow transplantation, the sign and symptoms of the disease subsided. Conclusion: In persistent and unjustifiable neonatal thrombocytopenia, diagnosis of osteopetrosis should be considered.

Research Square (Research Square), Aug 11, 2022

Triple-A Syndrome(TAS) is a rare autosomal recessive disorder characterized by adrenal insu cienc... more Triple-A Syndrome(TAS) is a rare autosomal recessive disorder characterized by adrenal insu ciency, 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 who were diagnosed with TAS. Method We evaluated 12 patients from 8 families. All exons and exon-intron junctions of the AAAS gene were evaluated by next generation sequencing method. Detected variants were classi ed according to American Collage of Medical Genetics criteria. Results Alacrimia was found in all of them(100%); achalasia was found in 10 patients(83.3%) and adrenal insu ciency was found in 10 patients(83.3%). In addition, hyperre exia(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. Six different homozygous pathogenic variants, 2 of which had not been previously reported, were detected. Conclusion We detected two novel variants in the AAAS gene. The earliest sign of TAS is alacrimia. In all cases, particularly with alacrimia or achalasia, adrenal insu ciency should be investigated and if necessary, genetic analysis should be performed for TAS. Additionally, in patients diagnosed with TAS, apart from the classic triad, especially neurological dysfunction and skin and dental pathologies should be investigated and followed up with a multidisciplinary approach.

Diabetes, Obesity and Metabolism, Apr 11, 2023

The Turkish Journal of Pediatrics

Dicle Medical Journal, Mar 19, 2023

The Journal of Clinical Endocrinology & Metabolism

Context Homozygous leptin (LEP) and leptin receptor (LEPR) variants lead to childhood-onset obesi... more Context Homozygous leptin (LEP) and leptin receptor (LEPR) variants lead to childhood-onset obesity. Objective To present new cases with LEP and LEPR deficiency, report the long-term follow-up of previously described patients, and to define, based on all reported cases in literature, genotype-phenotype relationships. Methods Our cohort included 18 patients (LEP = 11, LEPR = 7), eight of whom had been previously reported. A systematic literature review was conducted in July 2022. 42/47 studies on LEP/LEPR were selected. Results Of 10 new cases, two novel pathogenic variants were identified in LEP (c.16delC) and LEPR (c.40+5G>C). Eleven patients with LEP deficiency received metreleptin, four of whom had been treated for over 20 years. One patient developed loss of efficacy associated with neutralizing antibody development. Of 152 patients, including 134 cases from the literature review in addition to our cases, frameshift variants were the most common (48%) in LEP and missense vari...

American Journal of Ophthalmology, 2019

To investigate whether abnormal glucose metabolism in diabetes mellitus (DM) affects the retinal ... more To investigate whether abnormal glucose metabolism in diabetes mellitus (DM) affects the retinal microcirculation of children with wellcontrolled type 1 DM and to compare these results with those obtained from healthy children. DESIGN: Cross-sectional prospective study. METHODS: This study enrolled 60 patients with DM without clinically detectable diabetic retinopathy (DR) and who met 57 age-matched controls. Optical coherence tomography angiography (OCT-A) was performed using AngioVue (Avanti, Optivue). Foveal avascular zone (FAZ) area, non-flow area, superficial and deep vessel densities, FAZ perimeter, acircularity index of FAZ (AI; the ratio of the perimeter of FAZ and the perimeter of a circle with equal area), and foveal density (FD-300; vessel density in 300 microns around FAZ) were analyzed. Correlations between the investigated OCT-A parameters with DM duration and glycated hemoglobin (HbA1c) levels were evaluated among patients with type 1 DM. RESULTS: Differences in the mean values for FAZ perimeter, AI, and FD-300 were statistically significant between DM group and control group (P<0.001, P=0.001 and P=0.009, respectively). There were also statistically significant differences between the groups for vessel densities of deep superior hemiparafovea, deep temporal parafovea, and deep superior parafoveal zones (P=0.008, P=0.015 and P=0.005, respectively). There were no significant correlations between DM duration and HbA1c levels with the investigated OCT-A parameters. CONCLUSION: Diabetic eyes without clinically detectable DR exhibited alterations in FD-300, AI, perimeter, and vessel density of parafoveal capillaries in deep capillary plexus preceding the enlargement of FAZ; therefore, these new parameters might be sensitive imaging biomarkers to define early DR.

59th ESPE Annual Meeting (ESPE 2021 Online), 2021

JCR: Journal of Clinical Rheumatology, 2017