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    Assesment of the effect of summer camp on the life quality of diabetic children
    (2017) Bolu, Semih; Danış, Ayşegül; Arslanoğlu, İlknur; Bolu, Filiz; Akçalı, Figen; Aytar, Gülşen
    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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    Atypical presentation in patients with 17 ?-hydroxylase deficiency caused by a deletion in the CYP17A1 gene: short stature
    (2020) Bolu, Semih; Eröz, Recep; Tekin, Mehmet; Doğan, Mustafa
    Background. Patients with 17?-hydroxylase deficiency (17 OHD) usually present with tall stature and eunuchoid features, rather than growth retardation. However, unlike the classic form of the disease, short stature due to a lack of pubertal growth spurt and sex hormone deficiency was present in our four cases. We wanted to emphasize that short stature might be the cause of first presentation in patients with 17 OHD. Cases. We report five patients of Kurdish origin with 17 OHD, four of whom had short stature; two presented because of short stature and two were detected as having short stature. The external genitalia had a female appearance and was prepubertal in all cases. Hypertension was also detected in four of the patients. Serum biochemical and hormonal analyses were performed for each patient. Laboratory data suggesting severe growth hormone (GH) deficiency were obtained from one patient, while the other had a familial history suggesting constitutional delay of growth and puberty (CDGP). Whole exome sequence analysis of the CYP17A1 gene was performed on all patients. STR fragment analysis and multiplex ligation dependent probe amplification (MLPA) analysis was also performed to detect mutations associated with congenital adrenal hyperplasia (CAH) in the CYP17A1 gene. No mutation was detected in the whole exome sequence analysis of the CYP17A1 gene in all five patients, although wide deletions were identified in the 1st–6th exons of this gene at MLPA analysis. Conclusions. Patients with 17?-hydroxylase deficiency can present with short stature because they have no pubertal growth spurt during adolescence. Therefore, 17 OHD should be considered in the differential diagnosis of patients with delayed puberty and short stature.
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    Autistic feature and 2D: 4D finger ratio relations children and adolescents with congenital adrenal hyperplasia
    (Cumhuriyet Univ Tip Fak Psikiyatri Anabilim Dali, 2017) Kocaman, Gizem Melissa; Özmerdivenli, Recep; Yektaş, Çiğdem; Bolu, Semih; Haskılıç, Yunus Emre; Erdoğan, Ayten
    Objective: Because congenital adrenal hiperplazi (CAH) and autism spectrum sisorders (ASD) is rarely seen, it is difficult to assess whether the increased incidence of ASD in girls with CAH. ASD behaviors and 2D: 4D finger ratio changes in patients with androgen overproduction have been reported. The aim of this study is determining the 2D: 4D finger ratios and ASD features in girls with CAH and normal control group. Methods: The study group will consist of thirty female children and adolescents between the ages of 3 and 15 who are diagnosed with classic CAH who were followed at the Pediatric Endocrinology Department of Duzce University Medical Faculty Hospital. For the control group, 30 healthy children and adolescents equalized with CAH patients in terms of age and gender will be taken. Al patients and controls examined for psychiatric disorders. by clinicians Patients and control groups filled Autism Behavior Checlist and semistructured sociodemogrphic form that evaluated the gender, age, pregnancy and birth complications, history of mothers' cigarette and alcohol use. 2D: 4D ratios were measured in both of control and CAH groups. Results: KAH group right and left hand 2D: 4D ratios were statistically lower compared to controls and also lower 2D: 4D ratios had association with high ABC scores. When compared with control group, CAH group ABC scores were significantly higher. In KAH group there was a pozitive correlation between 2D: 4D ratios and ABC scores. Conclusion: In light of present study findings, suggest that high androjen may have effect on low 2D: 4D ratios and high ASD symptoms. Further researchs with a large sample are needed in this field.
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    Autistic Feature and 2D: 4D Finger Ratio Relations Children and Adolescents with Congenital Adrenal Hyperplasia [conferenceObject]
    (Wiley-Blackwell, 2016) Kocaman, Gizem Melissa; Özmerdivenli, Recep; Yektaş, Çiğdem; Arslanoğlu, İlknur; Özdemir, Esra; Bolu, Semih; Erdoğan, Ayten
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    Autistic feature and 2D:4D finger ratio relations children and adolescents with congenital adrenal hyperplasia
    (Cukurova University, Faculty of Medicine, 2017) Kocaman, Gizem Melissa; Özmerdivenli, Recep; Yektaş, Çiğdem; Bolu, Semih; Haskılıç, Yunus Emre; Erdoğan, Ayten
    Objective: Because congenital adrenal hiperplazi (CAH) and autism spectrum sisorders (ASD) is rarely seen, it is difficult to assess whether the increased incidence of ASD in girls with CAH. ASD behaviors and 2D:4D finger ratio changes in patients with androgen overproduction have been reported. The aim of this study is determining the 2D:4D finger ratios and ASD features in girls with CAH and normal control group. Methods: The study group will consist of thirty female children and adolescents between the ages of 3 and 15 who are diagnosed with classic CAH who were followed at the Pediatric Endocrinology Department of Düzce University Medical Faculty Hospital. For the control group, 30 healthy children and adolescents equalized with CAH patients in terms of age and gender will be taken. Al patients and controls examined for psychiatric disorders. by clinicians Patients and control groups filled Autism Behavior Checlist and semistructured sociodemogrphic form that evaluated the gender, age, pregnancy and birth complications, history of mothers’ cigarette and alcohol use. 2D:4D ratios were measured in both of control and CAH groups. Results: KAH group right and left hand 2D:4D ratios were statistically lower compared to controls and also lower 2D:4D ratios had association with high ABC scores. When compared with control group, CAH group ABC scores were significantly higher. In KAH group there was a pozitive correlation between 2D:4D ratios and ABC scores. Conclusion: In light of present study findings, suggest that high androjen may have effect on low 2D:4D ratios and high ASD symptoms. Further researchs with a large sample are needed in this field. © 2017, Cukurova University, Faculty of Medicine. All rights reserved.
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    Bilateral Sprengel Deformite, Konjenital Tek Taraflı Böbrek Agenezisi, MEFV Geninde M680İ (GC)Heterozigot Mutasyonu Olan Klippel-Feil Sendromlu Yedi Yaşında Bir Kız Olgu
    (2017) Doğan, Mustafa; Bolu, Semih; Yüce, Hüseyin; Eröz, Recep
    KFS, kısa boyun, düşük arka saç çizgisi ve boyun hareketlerini kısıtlayan servikal vertebraların füzyonuyla karakterizedir. Biz bilateral Sprengel deformiteli, konjenital tek taraflı böbrek agenezisi ve MEFV gen mutasyonu olan bir bayan KFS'li vakayı sunduk. Hastanın fizik muayenesi, rutin biyokimyasal, radyolojik değerlendirilmesi yapıldı ve aile öyküsü alındı. İlaveten, kromozomal analiz, MEFV geninin tüm ekzom sekans analizi ve GDF6 geninin sekans analizi yapıldı. Hastada kısa boyun, baş ve boyun hareketleri kısıtlanmış, düşük posterior saç çizgisi, bilateral Sprengel deformitesi, hafif skolyoz ve konjenital tek taraflı renal agenezisi vardı. Ayrıca hastanın parsiyel vertebra füzyonu vardı. Hasta, servikal kifoz, spinal kanalın füziform genişlemesi, servikal spinal kordun artmış kalınlığı, spinal kordun merkezinde yaklaşık 1.5 cm'ye ulaşan kistik genişlemeye ve normal karyotipe sahipti. Vakanın M680I(GC) mutasyonu vardı. Vakanın GDF6 geni analiz sonucu normaldi. Bildiğimiz kadarıyla bu; KFS, bilateral Sprengel deformite, konjenital tek taraflı renal agenezi ve FMF mutasyonunun birlikte olduğu ilk vakadır. KFS'li olgularda nörolojik defisitlerin minör travma sonrası görülmesi nedeniyle hasta, dikkatli olmalı ve ağır egzersizden kaçınmalıdır. Hastanın karaciğerinde ve dalağında kistler ve aile geçmişinde böbrek yetmezliği vardı. Bu nedenle hasta polikistik böbrek rahatsızlığı açısındanda değerlendirilmektedir. Bunlara ilaveten, vaka MEFV geninde mutasyona sahip olduğundan, amiloidozis riski için hasta yaşamı süresince böbrek rahatsızlığı açısından takip edilmelidir.
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    A boy with short stature, unusual findings and low percentage of 45,X(4%) / 46,XY(96%) mosaicism
    (Editions Medecine et Hygiene, 2016) Doğan, Mustafa; Eröz, Recep; Bolu, Semih; Yüce, Hüseyin; Gün, Emrah
    [No abstract available]
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    A BOY WITH SHORT STATURE, UNUSUAL FINDINGS AND LOW PERCENTAGE OF 45,X(4%)/46,XY(96%) MOSAICISM
    (Medecine Et Hygiene, 2016) Doğan, Mustafa; Eröz, Recep; Bolu, Semih; Yüce, Hüseyin; Gün, Emrah
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    A case with pseudohypoaldosteronism type 1 and investigation of molecular genetic etiology
    (Duzce University Medical School, 2017) Bolu, Semih; Doğan, Mustafa; Eröz, Recep; Yüce, Hüseyin; Mermerci, Asuman; Özmerdivenli, Recep
    Pseudohypoaldosteronism is a salt-wasting pattern that manifests with hyponatremia, hyperkalemia, and metabolic acidosis, and is the result of aldosterone peripheral nonresponse in renal tubule cells. Peripheral resistance development may occur as a result of mutations in the mineralocorticoid receptor or epithelial sodium channel; it can also develop as a secondary to infection, uropathy and receptor resistance due to drug use. Type 1 PHA is inherited as both autosomal dominant (sporadic-renal form) and autosomal recessive (systemic form). Systemic pseudohypoaldosteronism type 1 is autosomal recessive and the most severe form. Loss of function in one of the three subunits of the epithelial sodium channel (EnaC) is responsible for the disease (the alpha subunit (SCNN1A; 12p13), the beta subunit (SCNN1B; 16p12.2-p12.1), and the Gamma subunit (SCNN1G; 16p12). We present a patient who was diagnosed the primary pseudohypoaldosteronism type 1 for contribution to the literature, which is a rare disease and can be confused with other diseases caused by salt loss. © 2017, Duzce University Medical School. All rights reserved.
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    Clinical Picture at Attendance and Response to Flexible Family-Based Low-Carb Life Style Change in Children With Obesity
    (Lifescience Global, 2021) Cakmak, Hatice Mine; Arslanoglu, Ilknur; Sungur, Mehmet Ali; Bolu, Semih
    Aim: The study aims 1) to determine the clinical status of obese children at the admittance to the pediatric endocrinology referral center 2) to investigate the efficiency and compliance of the low-carb diet in a pediatric population with or without exercise, metformin Material and Methods: All subjects with the complaint of obesity and BMI percentile >95 were recruited from January 2012-August 2014. We evaluated basal retrospectively, recommended low carbohydrate family-wide eating practice and exercise to all, and metformin to selected cases, and recorded Self- reported adherence at first, third, sixth, and twelfth months. Results: Thirty-six subjects used metformin with a higher ratio of weight loss (90.0%, p=0.010) without a difference in the number of lost kilograms. In 160 cases without metformin; diet only, exercise only, and both diet and exercise groups lost weight significantly according to neither diet nor exercise group (OR:12.08, 95% CI 3.93-41.66, p<0.001; OR:3.04, 95% CI 1.18-7.84, p=0.022 and OR:32.80, 95% CI 7.14-150.77, p<0.001 respectively). Exercise plus diet (95.3%, p=0,002) and only diet (88.9%, p=0,023) were even more efficient than exercise alone (65.5%). In the twelfth month, 13.8% were on follow-up. Conclusion: Obesity gives rise to metabolic complications in the very early stages. A low carbohydrate diet proved to be acceptable and useful. Long-term consistency remains a challenge.
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    Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity
    (Springer, 2021) Dogan, Mustafa; Eroz, Recep; Terali, Kerem; Gezdirici, Alper; Bolu, Semih
    Mucolipidosis III gamma (ML III gamma) is a slowly progressive disorder that affects multiple parts of the body such as the skeleton, joints, and connective tissue structures. It is caused by pathogenic variants in the GNPTG gene that provides instructions for producing the gamma subunit of GlcNAc-1-phosphotransferase. In this study we aim to characterize clinical findings and biological insights on two novel GNPTG variants causing ML III gamma phenotypes with varying severity. We report on two siblings with ML III gamma bearing the previously undescribed c.477C > G (p.Y159*) nonsense variant in a homozygous state as well as a patient with ML III gamma bearing the novel c.110 + 19_111-17del variant in a homozygous state. These variants were revealed by whole-exome sequencing and Sanger sequencing, respectively. Their parents, who are heterozygotes for the same mutation, are healthy. The clinical and radiographic presentation of ML III gamma in our patients who had c.477C > G (p.Y159*) variant is consistent with a relatively severe form of the disease, which is further supported by a working three-dimensional model of the GlcNAc-1-phosphotransferase gamma subunit. On the other hand, it is seen that our patient who carries the c.110 + 19_111-17del variant has a milder phenotype. Our findings help broaden the spectrum of GNPTG variants causing ML III gamma and offer structural and mechanistic insights into loss of GlcNAc-1-phosphotransferase gamma subunit function.
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    Diyabetik Hastalarda Özelleştirilmiş Eğitim Programının Metabolik Parametreler Üzerine Etkisi
    (2019) Yılmaz, Özlem; Bolu, Semih; Özdemir, Zeyneb Soysal; Arslanoğlu, İlknur; Bolu, Filiz
    Amaç: HbA1c metabolik kontrolün ölçüsü olarak kullanılmakta olup, üç aylık ortalama kan şekeri değerinigöstermektedir. Diyabet eğitiminin metabolik kontrol, duygusal durum ve öz-bakım üzerine uzun vadeliyararları gösterilmiştir. Bu çalışmada, diyabet kongresi ve yaz okulu öncesi ile sonrasında ölçülen HbA1cdüzeyleri karşılaştırılarak, eğitim programının metabolik kontrol üzerindeki etkisinin incelenmesi amaçlandı.Yöntem: Bu çalışmada, diyabet kongresine ve yaz okuluna katılan, diyabetli çocuk ve aileleri ile erişkindiyabetlilere diyabet eğitimi verildi. Katılımcıların eğitim öncesi ve sonrası HbA1c ölçümleri yapıldı. Başkabir klinikten takip edilen hastaların söyledikleri HbA1c değerleri kabul edildi.Bulgular: Bu çalışmada, diyabet kongresine katılan 91 diyabetli arasından, 57 kişi çalışmaya dahil edildi.Yaz okuluna ise 58 diyabetli hasta katıldı. Kongre öncesi ortalama HbA1c değeri 8,88, kongre sonrası 8,76iken, yaz okulu öncesi ortalama HbA1c değeri 9,94, sonrası ise 9,6 olarak bulundu. Kongre ve yaz okulununöncesindeki ve sonrasındaki HbA1c düzeyleri arasında istatistiksel olarak anlamlı fark bulunmadı.Sonuç: Çalışmamızda, diyabetli bireylerde komplikasyonların azaltılması için iyi HbA1c değerleri hedeflenmektedir. Bu hedefi tutturmak için bireylerin motivasyonlarının artırılması, hastaların ve ailelerin diyabeteğitimlerinin tekrarlanması ve eğitimin sürekliliği gerekmektedir.
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    The Effects of Long-term Growth Hormone Treatment on Ocular Findings
    (Georg Thieme Verlag Kg, 2023) Eski, Mehmet Tahir; Teberik, Kuddusi; Bolu, Semih; Ankarali, Handan; Kaya, Murat; Arslanoglu, Ilknur
    Purpose This study aimed to examine the long-term changes in anterior chamber depth (ACD), central corneal thickness (CCT), axial length (AxL), peripapillary retinal nerve fibre layer thickness (RNFLT), peripapillary ganglion cell layer - inner plexiform layer (GCL-IPL) thickness, and peripapillary choroidal thickness (ChT) after rhGH replacement treatment in paediatric patients with IGHD, compared to healthy controls.Methods Twenty-two children with IGHD including 12 girls and 10 boys were enrolled in the study group, and 30 (16 girls, 14 boys) healthy children composed the control group. A detailed ophthalmological examination was performed for each participant. ACD, CCT, AxL, peripapillary RNFLT, GCL-IPL thickness and ChT measurements were performed before the rhGH replacement treatment and in the 12th month of the post-treatment period, as well as the corresponding visits in the control group. AxL ultrasound pachymetry (CCT), peripapillary RNFL thickness, peripapillary RNFLT, GCL-IPL thickness, and peripapillary ChT parameters were measured by spectral-domain optical coherence tomography.Results The mean age of the groups were similar (p = 0.143). 12-month CCT, ACD, and AxL measurements of the study group showed significantly higher results than the pre-treatment measurements (p = 0.005, p = 0.024, and p = 0.002, respectively). Similarly, the mean RNFLT and ChT measurements of the study group obtained from all sectors were significantly higher in the 12th-month visit (p < 0.001 for both) other than the RNFLT, and GCL-IPL thickness measurements (p > 0.05 for all). However, all these parameters were similar at pre- and post-treatment visits in the control group (p > 0.05 for all). The mean pre-treatment values of all these parameters were significantly lower in the study group compared to the control group (p < 0.05 for all), other than the RNFLT, GCL-IPL thickness measurements (p > 0.05 for all), while the mean post-treatment values of all these parameters in both groups were similar at month 12 (p > 0.05 for all).Conclusion GH replacement treatment in childhood may play an important role in the development of the neural retina and can be effective on the anterior segment, RNFLT and ChT measurements.
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    The evaluation of forensic age estimation in obese children
    (Romanian Legal Med Soc, 2018) Çelik, Mehmet Saki; Büken, Bora; Arslanoğlu, İlknur; Bolu, Semih; Sungur, Mehmet Ali
    Objective. The purpose of this study is to evaluate the difference between chronological age and bone age of obese children and to examine the differences in the growth of obese children in terms of their bone age and secondary sex criteria for the forensic age estimation. Material and Methods. The sample of this study consists of 274 obese children (153 girls and 121 boys) who applied to Pediatric Outpatient Clinic of Duzce University School of Medicine between January 2013 and February 2016. Children's left-hand wrist graphs were evaluated retrospectively with Tanner-Whitehouse (TW3) Bone Age Atlas for age estimation. Results. In the present study, it was found that the difference between bone age and chronological age due to obesity in females was less than one year. However, the differences between bone age and chronological age were more than one year in males at 5,8,9,10,11,12 years. In both genders, it was found that the difference was statistically significant in all parameters evaluated according to Tanner criteria. Conclusion. In the present study it was found that it is possible to use TW3 atlas in obese children but it is crucial to evaluate obese children considering the level and duration of obesity. Since the variation may be more than one year in obese boys, it is also recommended to evaluate with other methods for age estimation in obese boys.
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    Evaluation of Karyotype Composition of Our Turner Syndrome Patients with Their Application Complaints and Anthropometric
    (Duzce Univ, 2018) Doğan, Mustafa; Eröz, Recep; Bolu, Semih; Yüce, Hüseyin
    Objective: Turner syndrome (TS) is the result of partial or complete loss of the second X chromosome in women or structural anomalies of the X chromosome, and is characterized by clinical manifestations such as short stature, lymphedema, cardiac anomalies, primer over failure and neurocognitive problems. We have presented our patients with Turner syndrome together with the reasons for application complaints and anthropometric datas with karyotype compositions for contribution to the literature. Method: DNA was isolated from the peripheral blood samples and chromosome analysis were performed in the patients who were thoought to be Turner Syndrome at Duzce University Medical Faculty Medical Genetics Department. Twenty patients who were compatible with Turner's syndrome were included in the study. The complaints, height, weight, BMI (body mass index) values of each case included in the study were noted. Results: According to the results of cytogenetic analysis in our study, it was detected that 9 patients were 45, X (45%), 1 patient was 46, X, der(X), t(X,X)(p.11.2;q22)/45,X (%5), 1 patient was 45, X/46, X,del(X)(p.11.2) (%5), 1 patient was 45, X/47,XXX (%5), 4 patients were 45, X/46,XX (%20), 2 patients were 46,X,i(X)(q10)/45,X (%10), 1 patient was 46,X,i(X)(q10) (%5), 1 patient was 46, X, del(X)(p21) (% 5) chromosomal composition. Conclusion: Patients with TS show different karyotype compositions, which cause different clinical manifestations in patients. The "45, X" karyotype was found to be significantly higher than other chromosomal compositions, and the most common complaint in our patient group was short stature of 60%. Karyotype analysis is important for early diagnosis and early treatment in patients being followed up with short stature etiology. Patients should be followed up with a multidisciplinary team approach on a regular basis
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    A family with novel homozygous deletion mutation (c.1255delT; p.Phe419Serfs*12) in the glucokinase gene, which is a rare cause of permanent neonatal diabetes mellitus
    (2020) Bolu, Semih; Eröz, Recep; Doğan, Mustafa; Arslanoğlu, İlknur; Uzun, Hakan; Timur, Furkan
    Heterozygous inactivating mutations in the glucokinase gene cause the mildest form of maturity-onset diabetes of the adolescents. However, homozygous or compound heterozygous mutations in the glucokinase gene are a rare cause of permanent neonatal diabetes mellitus. Herein, we present the case of a male child with permanent neonatal diabetes mellitus whose mutational analysis revealed a novel homozygous deletion mutation in the glucokinase gene. The male proband of Turkish ancestry from consanguineous parents was born at 37 weeks gestation with a birth weight of 1870 g (<3rd percentile). Hyperglycemia developed during the first postnatal day and diabetes-related autoantibodies were negative. He was put on insulin on the first day of life. Insulin has never been discontinued since then. The mother was aged 35 years and had gestational diabetes. The father and the two brothers had impaired fasting glucose. Both parents and brothers were heterozygous for this mutation.
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    A family with novel homozygous deletion mutation(c.1255delT; p.Phe419Serfs*12) in the glucokinasegene, which is a rare cause of permanent neonataldiabetes mellitus
    (2020) Doğan, Mustafa; Uzun, Hakan; Arslanoğlu, İlknur; Timur, Furkan; Bolu, Semih; Eröz, Recep
    Heterozygous inactivating mutations in the glucokinase gene cause the mildest form of maturity-onset diabetes of the adolescents. However, homozygous or compound heterozygous mutations in the glucokinase gene are a rare cause of permanent neonatal diabetes mellitus. Herein, we present the case of a male child with permanent neonatal diabetes mellitus whose mutational analysis revealed a novel homozygous deletion mutation in the glucokinase gene. The male proband of Turkish ancestry from consanguineous parents was born at 37 weeks gestation with a birth weight of 1870 g (<3rd percentile). Hyperglycemia developed during the first postnatal day and diabetes-related autoantibodies were negative. He was put on insulin on the first day of life. Insulin has never been discontinued since then. The mother was aged 35 years and had gestational diabetes. The father and the two brothers had impaired fasting glucose. Both parents and brothers were heterozygous for this mutation.
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    Genotype-Phenotype Characteristics of Turkish Children With Glucokinase Mutations Associated Maturity-Onset Diabetes of the Young
    (Springer India, 2020) Bolu, Semih; Eroz, Recep; Dogan, Mustafa; Arslanoglu, Ilknur; Dundar, Ismail
    Objective To investigate phenotype-genotype correlations in Turkish children with glucokinase gene mutations leading to Maturity-onset diabetes in young (GCK-MODY). Methods Retrospective analysis of 40 patients (16 girls) aged under 18 with GCK-MODY. Results Mean (SD) serum fasting blood glucose level was 6.79 (0.59) mmol/L and the mean (SD) HbA1c level at diagnosis was 6.3% (0.5). Sixteen different variations were detected in the GCK genes of the 40 cases; 33 missense mutations, 6 deletions, and one nonsense mutation. The birthweight of infants with deletion mutation was significantly lower than that of infants with other mutations [2460 (353.66) g vs 2944.11 (502.08) g]. Conclusion GCK-MODY patients with deletion mutation inherited from mothers had lower birthweight and higher fasting blood glucose than those with other inherited mutations but similar HbA1c values.
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    İletişimsizliğin Çocuk Sağlığına Etkilerinden Biri: Nutrisyonel Rikets
    (2022) Bolu, Semih; Kurt, Fatih; Yalçın, Nilgün
    D vitamini, parathormon ve kalsitonin ile birlikte kemik, böbrek ve bağırsak arasındaki kalsiyum (Ca)-fosfor(P) metobolizmasını ve kemik mineralizasyonunu sağlamaktadır. Nütrisyonel rikets, D vitaminive/veya kalsiyum eksikliğine bağlı olarak büyüme plaklarında kusurlu kondrositve osteoid mineralizasyonundankaynaklanır. Ülkemizde Sağlık Bakanlığı tarafından 2005 yılından itibaren ilk bir yıl tüm süt çocuklarına ücretsiz 400 IU/gün D vitamini desteği yapılmaktadır. Ülkemizde bulunan göçmen aile bebeklerine D vitamini desteği verilmesine rağmen, aileler birinci basamak sağlık merkezlerindeki görevli sağlık çalışanları ile iletişim kuramadığı için bu destek tedaviyi hangi dozda ve ne zamana kadar kullanması gerektiğini bilmemekte, eksik dozda veya kısa süreli kullanabilmektedir. Biz bu makalede nutrisyonel rikets tanısı ile tedavi verilen hastayı sunarak literatüre katkı yapmak ve göçmen aileler ile iletişim eksikliğine bağlı oluşabilecek sorunlara dikkat çekmek istedik.