Bilişsel davranışçı grup terapisi'nin (BDGT) sosyal anksiyete bozukluğu (SAB) olan üniversite öğrencilerinde anksiyete, ruminasyon ve öz-şefkat düzeyleri üzerindeki etkisi

Bu tezin amacı, bilişsel davranışçı grup terapisinin sosyal anksiyete bozukluğu olan üniversite öğrencilerinin sosyal anksiyete, ruminatif düşünce ve öz-şefkat düzeylerindeki etkisini incelemektir. Çalışmada, Hasan Kalyoncu Üniversitesi’nde öğrenim gören 1200 öğrenciye Liebowitz Sosyal Anksiyete Ölçeği uygulanmış ve sosyal anksiyete düzeyi en yüksek olan 30 üniversite öğrencisi seçilmiştir. Gerçek deneysel desenlerden ön-test, son-test, izleme ve plasebo desen kullanılmıştır. Seçilen öğrenciler tabakalı seçkisiz olarak deney ve plasebo gruplarına atanmıştır. Deney grubuna BDT grup terapisi, plasebo grubuna ise iletişime dayalı grup terapisi uygulanmıştır. Veri toplama aracı olarak Kişisel Bilgi Formu, Liebowitz Sosyal Anksiyete Ölçeği, Ruminatif Düşünce Biçimi Ölçeği ve Öz-şefkat Ölçeği kullanılmıştır. Deneysel işlemin sonucunda elde edilen bulgular Friedman, Mann Whitney-U ve Wilcoxon işaretli sıralar test teknikleri ile incelenmiştir. Araştırmanın sonucunda bilişsel davranışçı grup terapisi uygulanan sosyal anksiyete bozukluğu olan öğrencilerin sosyal anksiyete ve ruminatif düşünce düzeylerinde azalma meydana gelmiştir. Bireylerin öz-şefkat düzeylerinde herhangi bir değişiklik görülmemiştir. Söz konusu sonuçlar ilgili alanyazın çerçevesinde tartışılmıştır

Familial Glucocorticoid Deficiency Type 2: A Case Report

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease resulting from resistance to the action of adrenocorticotropic hormone (ACTH) on the adrenal cortex, which leads to isolated glucocorticoid deficiency with normal mineralocorticoid secretion. It may present in infancy or early childhood with hyperpigmentation, failure to thrive, recurrent infections, hypoglycemic attacks and convulsions that may result in coma or death. Laboratory investigations reveal low cortisol and androgen levels with high ACTH associated with normal reninaldosterone axis. The disorder may be caused by mutations in the gene of ACTH receptor (MC2R), or mutations in the newly described melanocortin− 2 receptor accessory protein (MRAP) namely, FGD type 1 and FGD type 2, respectively. Twenty five percent of FGD cases are due to the mutations of the ACTH receptor, while FGD type 2 accounts for approximately 15−20% of FGD cases. Here, we report a six−month−old male infant, who presented with recurrent hypoglycemic convulsions. Serum hormone analysis showed low cortisol and androgen levels associated with a high ACTH concentration. No mutation was found in the NR0B1 and MC2R genes excluding congenital adrenal hypoplasia and FGD type 1. We found a homozygous deletion (c. 106+1delG) in intron 3 of MRAP gene. To our knowledge, this is the first Turkish patient reported with FGD type 2 due to a known MRAP mutation

Does Early Treatment Prevent Deafness in Thiamine-Responsive Megaloblastic Anaemia Syndrome?

Thiamine-responsive megaloblastic anaemia (TRMA; OMIM 249270) syndrome is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anaemia, and sensorineural deafness. Progressive hearing loss is one of the cardinal findings of the syndrome and is known to be irreversible. Whether the deafness in TRMA syndrome can be prevented is not yet known. Here, we report a four-month-old female infant diagnosed with TRMA syndrome at an early age. There was no hearing loss at the time of diagnosis. The patient’s initial auditory evoked brainstem response measurements were normal. Although she was given thiamine supplementation regularly following the diagnosis, the patient developed moderate sensorineural hearing loss at 20 months of age, indicating that early diagnosis and treatment with oral thiamine (100 mg/day) could not prevent deafness in TRMA syndrome. It would be premature to draw general conclusions from one case, but we believe that further patient-based observations can shed light on the pathophysiology of this rare syndrome as well as prediction of its prognosis

Neonatal Episodic Hypoglycemia: A Finding of Valproic Acid Withdrawal

The treatment of epilepsy during pregnancy is a worldwide problem. Drugs need to be used to control seizures in the mothers. In utero, exposure to valproic acid (VPA) and phenytoin (PH) may cause congenital malformations and also withdrawal symptoms such as irritability, jitteriness and symptoms of hypoglycemia. We present here a newborn with episodic hypoglycemia due to in utero exposure to VPA and PH. The mother was diagnosed as having complex partial epilepsy and was treated with PH (200 mg/day) and VPA (600 mg/day). The offspring developed jitteriness on the second day of life. The infant was hypoglycemic (32 mg/dl). These findings were accepted as withdrawal symptoms, since serum levels of VPA and PH were 37.8 μg/ml (50−100 μg/ml) and 6.37 μg/dl (10−20 μg/ml), respectively. Measurement of blood glucose is important and should be carefully monitored in infants exposed to antiepileptics in utero

Vitamin D Deficiency Rickets Mimicking Pseudohypoparathyroidism

Vitamin D deficiency rickets (VDDR) is a disorder biochemically characterized by elevated serum alkaline phosphatase (ALP) activity, normal or decreased serum calcium (Ca) and inorganic phosphate concentrations, secondary hyperparathyroidism and decreased serum 25−hydroxyvitamin D (25(OH)D) levels. In stage 1 VDDR, urinary amino acid and phosphate excretion are normal with minimal or no findings of rickets on radiographs. Pseudohypoparathyroidism (PHP) is an inherited disorder characterized by end−organ resistance to parathormone (PTH). VDDR occasionally resembles PHP type 2 in clinical presentation and biochemical features, creating difficulties in the differential diagnosis of these two entities. Here we report an infant diagnosed with VDDR. In addition to inadequate vitamin D intake, usage of antiepileptic drugs (AED) may have led to the worsening of the vitamin D deficiency. The patient presented with a history of febrile convulsions, for which he received phenobarbital treatment. The initial findings of hypocalcemia, hyperphosphatemia and normal tubular reabsorption of phosphate, mimicking PHP 2, responded well to vitamin D and oral Ca treatment with normalization of serum Ca, phosphorus (P), ALP and PTH level

Hypothalamo−Pituitary Insufficiency Associated with Ectrodactyly−Ectodermal Dysplasia−Clefting Syndrome

Ectrodactyly−ectodermal dysplasia−clefting (EEC) syndrome is characterized by ectodermal dysplasia, ectrodactyly and facial clefting with multiple congenital anomalies such as urinary tract anomaly, lacrimal duct obstruction, and hearing loss. This syndrome is a rare disease transmitted by autosomal dominant inheritance with variable penetrance. Clinical expression is variable. In EEC syndrome with midline defect hypothalamo−pituitary endocrinopathy is expected, however hormonal disorders in EEC syndrome have rarely been reported. We present two patients with EEC syndrome associated with hypothalamo−pituitary insufficiency

Melnick−Needles Syndrome Associated with Growth Hormone Deficiency: A Case Report

Melnick−Needles syndrome is an X−linked dominant bone dysplasia characterized by a typical facies (exophthalmos, full cheeks, micrognathia, and malalignment of teeth), flaring of the metaphyses of long bones, s−like curvature of the lower extremities, irregular constriction in the ribs, and sclerosis of base of the skull. The phenotype of affected individuals varies, even within families. About fifty cases of Melnick−Needles syndrome have been reported to date. Short stature is not a well−known component of the disorder. There is only one reported case of Melnick−Needles syndrome associated with growth hormone deficiency

Iodine Overload and Severe Hypothyroidism in Two Neonates

Iodine overload frequently leads to transient hyperthyrotropinemia or hypothyroidism, and rarely to hyperthyroidism in neonates. Iodine exposure can be prenatal, perinatal or postnatal. Herein we report two newborn infants who developed severe hypothyroidism due to iodine overload. The overloading was caused by excessive use of an iodinated antiseptic for umbilical care in the first case, and as a result of maternal exposure and through breast milk with a high iodine level in the second case. Presenting the two cases, we wanted to draw attention to these preventable causes of hypothyroidism in infants

The Weight and Height Percentiles in 6−18 Year Old Children in Kayseri and Comparison with Istanbul Data

Background: One of the mostly used and preferred method in following the growth of children is to plot weight and height values of the children on standard percentile charts. It is essential for each country to use its own populations’ updated percentile curves. However, data on the growth of children living in different regions are also needed for comparison with the national standards