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    17? Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort
    (Springer, 2024) Siklar, Zeynep; Camtosun, Emine; Bolu, Semih; Yildiz, Melek; Akinci, Aysehan; Bas, Firdevs; Dundar, Ismail
    Purpose17 alpha Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management.MethodsData from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated.ResultsMean age at admission was 13.54 +/- 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment.ConclusionThis study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region.
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    Assesment of The Effect of Summer Camp on The Life Quality of Diabetic Children
    (2017) Bolu, Semih; Danis, Aysegul; Arslanoglu, Ilknur; Bolu, Filiz; Akcali, Figen; Aytar, Gulsen
    Aim: Type 1 diabetes which is a chronic metabolic disease can affect the quality of life of a person. The aim of this study is to evaluate the life quality of diabetic children and adolescents who are diagnosed with type 1 diabetes mellitus and compare the perceptions of life quality through the life quality scale before and after summer camp. Materials and Method: A scale of life quality was applied to 31 children/adolescents with type 1 Diabetes Mellitus between ages 9-16 years in the Diabetes Summer Camp. Results: The perceived quality of life of children / adolescents with type 1 diabetes were better after diabetes camp (p< 0.05). When the Quality of Life Scale scores compared by gender, it was found that the emotional well-being and self esteem subscale scores and the total scores of boys were statistically significantly higher after diabetes camp. But the Quality of Life Scale scores of girls did not show a significant increase. Conclusion: This study showed that the diabetes camp, which promoted the ability of diabetic children and adolescents to manage their illnesses, changed the perception of quality of life of male diabetic patients in particular. However, repeating similar studies involving a larger number of cases will allow better evaluation of the results of such activities.
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    Evaluation of factors associated with time to diabetic ketoacidosis resolution in children
    (Bayrakol Medical Publisher, 2022) Oztekin, Mehmet; Konca, Capan; Tekin, Mehmet; Bolu, Semih
    Aim: In this study, it was aimed to examine the relationship between clinical, demographic, and laboratory characteristics of patients at admission and time to diabetic ketoacidosis (DKA) resolution. Material and Methods: The files of patients with the diagnosis of DKA between January 2013 and December 2018 were reviewed retrospectively.Results: A total of 25 patients were included in the study. The mean age of the patients was 9.3 +/- 3.41 years. In 19 patients (76%), diabetes mellitus (DM) was diagnosed simultaneously with DKA. The mean time to DKA resolution was found to be significantly longer among patients with a family history of DM, newly diagnosed DM, respiratory distress, odor of acetone on the breath, altered consciousness, and severe coma. There was a significant correlation between the time to DKA resolution and the Pediatric Risk of Mortality score and the length of stay. There was also a significant negative correlation between time to DKA resolution and both pH and HCO3 levels. Discussion: DKA is an acute, severe, and life-threatening complication of type 1 DM in children. It is important to identify the factors affecting the prognosis and resolution time of comas in these patients in order to predict outcomes. Our findings show that the prognosis will be worse and the time to resolution will be longer among children with altered consciousness, newly diagnosed DM, respiratory distress, a high PRISM score, severe DKA coma, and severe acidosis at the time of admission.
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    The relationship between phenotypical findings and different karyotypes in children with turner syndrome
    (2021) Bolu, Semih; Eroz, Recep; Arslanoglu, Ilknur; Dogan, Mustafa
    Aim: Turner syndrome (TS) is the most common chromosomal disorder in girls. Several systems can be adversely affected in association with genetic disorders. The purpose of this study was to examine the karyotype distribution in patients with TS, frequently seen clinical characteristics, and their relations with the karyotypes.Materials and Methods: Fifty-four cases ranging in age between two and 40 years and diagnosed with TS at three different centers in Turkey between May 2013 and June 2019 were evaluated retrospectively. Results: The patients’ mean age was 17.5±9.3 years. The most common chromosomal anomaly was 45,X (35.2%), followed by low-level mosaic (20.4%), isochromosome (18.5%), deletion (9.3%) and other chromosomal disorders (16.7%). The most common presentation symptom was short stature (66.6%), followed by infertility (12.9%). Cardiovascular pathology was determined in 33.3% of cases, hypothyroidism in 25.9%, ophthalmological problems in 24.1%, renal anomaly in 18.5%, hearing loss in 12.9%, and scoliosis in 9.3% and mental retardation in 16.6%. Obesity was present in 33.3% of cases.Conclusion: Turner Syndrome is a chromosomal disorder affecting several systems. Clinical manifestations in patients with TS can be affected to varying degrees depending on the karyotype.