301 research outputs found

    Growth of Children with Type 1 Diabetes Mellitus

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    Objective: To retrospectively evaluate the effect of type 1 diabetes on growth

    Fine−Needle Aspiration Biopsy in the Diagnosis and Follow−Up of Thyroid Nodules in Childhood

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    Objective: To assess the role of fine−needle aspiration biopsy (FNAB) in the management of pediatric thyroid nodules

    EVALUATION OF FAMILY FUNCTIONS OF PREPUBERTAL BOYS WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER WITH AND WITHOUT OPPOSITIONAL DEFIANT DISORDER

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    Amaç: Bu çalışmada, Dikkat Eksikliği Hiperaktivite Bozukluğu (DEHB) ve Karşıt Olma Karşı Gelme Bozukluğu eşlik eden DEHB (DEHB+KOKGB) tanılı çocukların aile işlevlerinin, kontrollerle karşılaştırılarak değerlendirilmesi amaçlanmıştır. Gereç ve yöntem: Çalışmaya, Dokuz Eylül Üniversitesi Tıp Fakültesi çocuk psikiyatrisi polikliniğine ilk kez başvurarak DEHB tanısı alan 21, DEHB+KOKGB tanısı alan 26 erkek çocuk alınmıştır. Kontrol grubuna 27 sağlıklı erkek çocuk alınmıştır. Tüm olgular erkek cinsiyetinde ve 6-11 yaş aralığındadır. Sosyodemografik veri formu, aile değerlendirme ölçeği (ADÖ), dikkat eksikliği ve yıkıcı davranış bozuklukları için DSM-IV'e dayalı tarama ve değerlendirme ölçeği anneler tarafından, Conners öğretmen derecelendirme ölçeği kısa formu öğretmenleri tarafından doldurmuştur. Bulgular: İletişim ve genel işlevleri gösteren alt bölümler açısından; DEHB grubu ile kontrol grubu arasında fark saptanmazken, DEHB+KOKGB grubunda; DEHB grubu ve kontrol grubuna göre istatistiksel olarak anlamlı yükseklik saptanmıştır. Sonuç: DEHB'li çocuklarda, KOKGB ek tanısının varlığında aile işlevlerinde bozulma meydana gelebilmektedir. Objective: The aim of this study was to investigate family functions of prepubertal boys with attention deficit hyperactivity (ADHD) and comorbid oppotional defiant disorder (ODD). Material and method: The study involved children between the ages of 6 and 11 with ADHD and ADHD+ODD diagnosis on the basis of DSM-IV diagnosis criteria, who were seeking medical treatment for the first time at the child psychiatry outpatient clinic of Dokuz Eylül University School of Medicine. The ADHD group and the ADHD+ODD group included respectively 21 and 26 boys, while there were 27 boys in the control group comprising healthy volunteers. The parents filled in the forms of DSM-IV Based Behavior Disorders Screening and Rating Scale for lack of attention and disruptive behavior disorders, the forms of Family Asessment Device and the teachers filled in a brief form of Conners Teacher Rating Scale.Results: We found that the families of ADHD+ODD group had significantly higher rates of "communication" and "general functions" compared to ADHD and control groups. There was no statiscally significant difference between ADHD group and controls. Conclusion: The presence of ODD in children with ADHD may be associated with the abnormal family functioning

    A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive Maturity-onset Diabetes of the Young

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    Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes, with autosomal-dominant inheritance, which usually develops before 25 years of age. MODY is classically caused by a heterozygous mutation of genes known to affect insulin production or secretion. Heterozygous inactivating hepatocyte nuclear factor 4A (HNF4A) mutations, one of the rare subtypes of MODY, cause impaired insulin secretion and subsequent glucose intolerance especially in adolescence. Conversely, HNF4A mutations are also known to be associated with macrosomia and hyperinsulinemic hypoglycemia in newborns. Herein, we report a rare cause of diabetes resulting from a novel heterozygous mutation in the HNF4A gene. In conclusion, genetic testing should be considered in order to establish an accurate diagnosis and provide an opinion in determining the appropriate type of treatment

    SOTOS SYNDROME: A RARE CAUSE OF TALL STATURE

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    Sotos sendromu, endokrin bir bozukluk olmaksızın hızlı büyümeyle karakterize birhastalıktır. Ondört yaşında kız hasta boy uzunluğu şikayeti nedeniyle başvurdu. Doğumdave postnatal izlemlerinde boyunun yaşıtlarına göre üst sınırlarda olduğuöğrenilen hastanın klinik incelemelerinde mental retardasyon, makrosefali ve üstsınırda boy persentili saptandı. Bu bulgularla olguya sotos sendromu tanısı konuldu.Bu olgu sunumumuzda aşırı boy uzaması yakınması ile başvuran ve fizik muayenesindedismorfik bulgular saptanan hastaların ayırıcı tanısında sotos sendromunununda düşünülmesinin vurgulanması istenildi.Sotos syndrome is a disorder which is characterized by rapid growth without anyendocrine defect. A 14-year-old female patient was admitted with a complaint of tallstature. Her history revealed that her height was at the upper limits compared to herpeers at the time of birth and during the postnatal follow-ups. Clinical examinationsshowed mental retardation, macrocephaly, and a height percentile at the upper limit.Sotos syndrome was diagnosed with these clinic findings. In this case report, we aimedto stress the necessity of considering the rarely seen Sotos syndrome when making thedifferential diagnosis of patients who apply with the complaint of excessive growth anddemonstrate dismorphic findings at the physical examination

    Pediatric Bilateral Pheochromocytoma and Experience of Laparoscopic Cortical Sparing Adrenalectomy

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    Pheochromocytomas are neuroendocrine tumors. In this report, we present a 15-year-old girl who had cerebral palsy and pheochromocytoma. She also had a diagnosis of hyperinsulinemic hypoglycemia in her history. She underwent bilateral laparoscopic cortical sparing adrenalectomy. We report the experience of laparoscopic bilateral cortical sparing adrenalectomy of a pediatric pheochromocytoma
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