Güler Özer

Growth hormone and insulin‐like growth factor 1 levels and their relation to survival in children with bacterial sepsis and septic shock

Objectives:  Despite improved supportive care, the mortality of sepsis and septic shock is still high. Multiple changes in the neuroendocrine systems, at least in part, are responsible for the high morbidity and mortality. A reduced circulating level of insulin‐like growth factor and an elevated level of growth hormone are the reported characteristic findings early in the course of sepsis and septic shock in adults. The aim of this study was to evaluate the changes of growth hormone/insulin‐like growth factor 1 axis in sepsis and septic shock and investigate the relationship between these hormones and survival.

Serum IL-1, IL-2, TNFα and INFγ levels of patients with type 1 diabetes mellitus and their siblings

: Type 1 diabetes mellitus (DM) develops as a result of autoimmune destruction of the pancreatic beta-cells. The aim of this study was to explore possible associations between serum levels of cytokines, IL-1, IL-2, TNFalpha and INFgamma and metabolic parameters in children with type 1 DM and their non-diabetic siblings to determine whether these cytokines could be indicators of disordered immune regulation. The study population consisted of 41 children with type 1 DM, 32 non-diabetic siblings, and 28 healthy controls. Children with DM were divided into three subgroups: 1) newly diagnosed patients with diabetic ketoacidosis (ND + DKA), 2) newly diagnosed patients without DKA (ND - DKA), and 3) previously diagnosed patients (PD). The highest serum IL-1alpha level was found in the ND - DKA group, which was significant compared to both the ND + DKA (p < 0.05) and the siblings (S) (p < 0.005). IL-2 levels were similar among all groups. The highest TNFalpha level was observed in the ND + DKA group, which was significant against the ND - DKA (p < 0.05), PD (p < 0.001), S (p < 0.05), and control (C) (p < 0.005) groups. TNFalpha concentration in the PD group was significantly lower than those of S (p< 0.005) and C (p < 0.001) groups. The ND - DKA group had the highest INFgamma and this was statistically significant when compared with the S (p < 0.005) and C (p < 0.05) groups. Both the newly diabetics and all diabetics as a group had statistically significantly higher INFgamma levels than both the S (p < 0.01 for both) and C (p < 0.05 for both) groups. In the diabetics as a whole group, TNFalpha showed correlations with INFgamma (r = 0.370, p < 0.05). IL-1 showed correlation with TNFalpha (r = 0.368, p < 0.05) INFgamma (r = 0.796, p < 0.001) and IL-2 (r = 0.862, p < 0.001) in the all diabetics group. IL-2 was correlated with TNFalpha (r = 0.320, p < 0.05) and INFgamma (r = 0.754, p < 0.01) in the all diabetics group. In conclusion, our results suggest that proinflammatory cytokines TNFalpha, INFgamma, IL-1alpha and IL-2 may play important roles alone or in combination in the pathogenesis of type 1 diabetes mellitus.

Clinical features of Bardet-Biedl syndrome

Six patients with Bardet‐Biedl syndrome who have been followed in our clinics for the last 5 years are reported in this study. Of the five classic features of this syndrome; obesity and mental retardation were present in all cases, retinal disturbances were present in five, Polydactyly in three and hypogenitalism was observed in all four male patients. Renal involvement, often suggested as a cardinal feature of this syndrome, was described in two patients. Iron deficiency anemia occurred in three patients, two patients were of short stature, one patient presented with an empty sella, and in two patients clinodactyly was detected. The results are compared to previously published literature and discussed.

Three Children with Triple A Syndrome due to a Mutation (R478X) in the AAAS Gene

Objective: To investigate the phenotype and genotype of 3 unrelated children with triple A syndrome from southern Turkey. Methods: The coding sequence of the AAAS gene was sequenced including exon-intron boundaries. Haplotype analysis using markers from AAAS region was performed in order to assess potential founder effects. Results: In all 3 patients, the identical nonsense mutation (R478X) in exon 16 of the AAAS gene was identified. The patients who may be distantly related appeared phenotypically similar with the classical triad of the triple A syndrome (adrenal insufficiency, alacrima and achalasia) with dermatological manifestations while lacking neurological features except for mild mental retardation. Conclusion: The R478X mutation tends to result in a rather severe phenotype although genotype-phenotype relationships cannot be drawn due to the small number of patients.

Chromium levels in healthy and newly diagnosed type 1 diabetic children

Background:  The aim of this study was to compare the chromium levels of plasma (PCL), erythrocyte (ECL) and urine (UCL) in type 1 diabetics and healthy subjects and to review the relation between metabolic parameters.

Bone Mineral Changes in Acute Metabolic Acidosis due to Acute Gastroenteritis

We studied bone mineral metabolism changes complicated by acute gastroenteritis in a clinical acute metabolic acidosis milieu where we observed hypercalcemia, hypercalciuria, and elevated urinary hydroxyproline excretion. Serum magnesium and plasma osteocalcin, alkaline phosphatase, and IGF-1 levels were decreased. No significant changes in serum inorganic phosphate and plasma PTH, calcitonin, or 25-hydroxy vitamin D3 levels were detected. All abnormalities disappeared with the correction of acidosis. Observed hypercalcemia seems to be the result of increased calcium efflux from bone due to metabolic acidosis-induced catabolism of type 1 collagen and decreased osteoblastic activity. This study provides data regarding acute metabolic acidosis-induced changes in noninvasive parameters of bone modeling, assessed for the first time in humans.

Coexistence of Common Variable Immunodeficiency and Autoimmune Polyglandular Syndrome Type 2

A six year-old boy with common variable immunodeficiency developed insulin dependent diabetes mellitus, autoimmune thyroiditis, and total alopecia leading to the diagnosis of autoimmune polyglandular syndrome type 2. Previously unreported co-occurence of these two entities may be explained by strong autoimmunity and HLA association of both conditions.

Primary hyperparathyroidism in an infant with three parathyroid glands and pulmonary calcinosis.

Abstract A 2 month-old male infant presented with severe hypercalcemia due to parathyroid hyperplasia. A total parathyroidectomy and partial heterotopic autotransplantation were carried out. Hypercalcemia recurred two months later. Normocalcemia was re-established after removing one half of the implanted tissue. Despite two separate surgical explorations and several imaging studies, including 99mTc-sestamibi scintigraphy, ultrasonography, and MRI, only three parathyroid glands were found. Severe pulmonary calcinosis has not previously been reported in children with PHPT. In conclusion, developmental variations of the parathyroid glands may be difficult to identify with present imaging techniques. This may pose difficulties in management of PHPT. The present report describes pulmonary calcinosis as a sequela which can cause additional morbidity in these infants.

A case of ambiguous genitalia with unilateral amelia and unilateral peromelia of the upper limbs.

A 7‐year‐old patient is reported with a 46,XY karyotype, ambiguous genitalia and unilateral amelia and unilateral peromelia of the upper limbs. The external genitalia had essentially a female configuration with labia majora, large clitoris, and narrow vaginal opening. Gonadal tissue was not palpable on either side. The levels of 17‐OH progesterone dehydroepiandrosterone sulfate (DHEA‐S), androstenedione and luteinizing hormone (LH) were normal, but the level of follicle stimulating hormone (FSH) was elevated minimally. Abdominal ultrasonography (USG) was normal. On pelvic USG, neither uterus nor ovaries were seen. Genitography showed a blind vagina. Gonads, Müllerian and/or Wolffian structures were not observed at laparotomy. Clitoral recession and cut‐back vaginoplasty were performed. The occurrence of these findings suggests embryonic testicular regression syndrome with bilateral transverse defect of the upper limbs. The case has been presented because the pattern of the birth defects, including both ambiguous genitalia and unilateral amelia on one side of the upper limbs and unilateral peromelia in the other, have not been described previously.

Çukurova Bölgesindeki Ötiroidik Diffüz Guatırlı Çocuklarda Otoimmün Tiroidit Sıklığının Anti Tiroid Peroksidaz Antikorun Ölçümüyle Tespiti

Otiroidik diffuz guatirli hastalarin etyolojilerinde otoimmunitenin rolunu belirlemek amaciyla yapilan bu calismaya 95 guatirli hasta ve 25 saglikli kontrol alindi Calismaya alinan olgulardan 60 tanesinin hastalik sureleri iki yil ve daha fazla 35 tanesinin ise iki yildan daha az idi Hasta ve kontrollerden alinan serum orneklerinde anti tiroid peroksidaz antikoru olcumu mikro elisa yontemiyle ve tum ornekler iki kez calisilarak yapildi Ayrica indirekt hemaglutunasyon yontemiyle anti mikrozomal antikor ve anti tiroglobulin antikor olcumleri de yapildi Tum olgularda T3 T4 TSH olcumler tiroidin ultrasonografik incelemesi yapildi 95 olgunun 7 sinde 7 36 anti tiroid peroksidaz antikoru pozitif bulunurken 7 olguda anti mikrozomal antikor 4 olguda da anti tiroglobulin antikor pozitifligi bulundu 2 olguda uc anti tiroid antikor bir olguda iki antitiroid antikor ve 10 olguda bir antitiroid antikor pozitifti Anti TPO pozitif olan 7 olguda tiroid igne aspirasyonu uygulandi 5 inde lenfositik tiroidit ile uyumlu bulgular elde edilirken diger ikisi normal olarak degerlendirildi Sonuc olarak bu calismada otoimmun tiroid hastaliginin tespitinde anti TPO olcumunun daha iyi sonuclar verdigi gosterilmis ve otiroidik diffuz guatirli hastalar icinde otoimmun kokenlilerin literature gore daha dusuk bir oran teskil ettigi bunda hastalarin cogunun endemik guatirli yorelerden gelmis olmalarinin da katkisi olabilecegi sonucuna varilmistir Anahtar kelimeler: Otoimmun Tiroidit Anti Tiroid Peroksidaz Antikor