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Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorder with parathormone target organ resistance, characterized by hypocalcemia, hyperphosphatemia and high blood parathormone (PTH). Typical phenotypic symptoms and additional hormonal resistance can be observed in type Ia, which is also known as Albright hereditary osteodystrophy. Our patient was an eight-year and nine-month old girl with typical Albright-s hereditary osteodystrophy phenotype including short stature, obesity, round face, low nasal bridge, shortened metacarpals, and mild mental retardation. In her biochemical examination, high PTH level and hypothyroidism is detected in spite of normal calcium and phosphor levels. As a result of clinic and laboratory tests, the findings were consistent with PHP type Ia with normocalcemia. In her guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1 (GNAS 1) gene serial analysis, C-308T>C (p1103T) transformation was detected, which was previously reported in a PHP type Ia patient. In this report, we-ve aimed to emphasize the fact that calcium and phosphor level in the blood of the patient with PHP type Ia can be measured normal.

Aim The exact mechanisms that trigger the onset of puberty are not well known. Adipomyokines are postulated to stimulate the central neural network. In the present study, we investigated irisin levels in girls with central precocious puberty (CPP), slowly progressing precocious puberty (SPPP), or premature thelarche (PT); we also studied prepubertal girls and to determine if this adipomyokine could be used as a marker in this context. Methods A total of 94 girls including 33 with CPP, 31 with precocious puberty (PP) variants (SPPP or PT), and 30 healthy controls were enrolled to the study. The mean irisin levels were compared between groups. The bivariate correlations of irisin levels with clinical and laboratory parameters were assessed. Multivariate linear regression analysis was performed to determine independent predictive factors of irisin levels. Results Irisin levels were higher in the CPP group compared with the other groups (CPP group: 723.25 ± 62.35 ng/mL; PP variants group: 529.60 ± 39.66 ng/mL; and control group: 325.03 ± 27.53 ng/mL) (P Conclusions The mean irisin levels were higher in patients with CPP compared with other groups. The results of this study imply that increased irisin levels may be used as a marker of CPP provided that these findings are confirmed in larger prospective studies.

Background Adipokines have been suggested to play an important role in the pathogenesis of polycystic ovarian syndrome (PCOS). Omentin is an adipokine secreted essentially by visceral adipose tissue with an insulin-sensitizing effect. Insulin resistance (IR) is a common feature of PCOS, therefore the aim of this study was to investigate omentin-1 level in adolescent girls with PCOS and its relationship with IR and androgens. Method A total of 41 obese girls with PCOS, and 30 age- and body mass index (BMI)-matched obese girls without PCOS were enrolled in the study. The demographic, clinic and laboratory characteristics of the groups were compared. Additionally, bivariate correlation analysis of omentin-1 with BMI standard deviation score (BMI-SDS), insulin, glucose, homeostatic model assessment of IR (HOMA-IR), total and free testosterone was performed. Results In the PCOS group HOMA-IR, free and total testosterone were higher than in the control group. Omentin-1 was lower in the PCOS group compared with the controls (55.01 ± 7.99 ng/mL vs 59.10 ± 7.02 ng/mL, respectively; P = 0.027). Omentin-1 was inversely correlated with free testosterone (r = -0.527, P = 0.030) and BMI-SDS (r = -0.241, P = 0.046) but it was not correlated with total testosterone, HOMA-IR, glucose, insulin or serum lipids. Conclusion Omentin-1 was lower in obese girls with PCOS and hyperandrogenism was associated with this condition.

Objective: Malnutrition continues to be a leading cause of stunted growth in many countries. This study aimed to investigate serum nesfatin-1 and orexin-A levels in underweight children and the potential correlations of these levels with anthropometric and nutritional parameters. Methods: The study enrolled 44 prepubertal children (between 2 and 12 years of age) with thinness grades of 1-3 and 41 healthy age- and gender-matched children. The demographic, clinical and laboratory parameters including nesfatin-1 and orexin-A concentrations were compared between the two groups. The correlations of nesfatin-1 and orexin-A with biochemical and anthropometric parameters were investigated. The receiver operating characteristic (ROC) analysis were also performed for evaluating nesfatin-1 and orexin-A in distinguishing children with malnutrition from healthy controls. Results: Thyroid-stimulating hormone, vitamin B12 and insulin levels were significantly lower in the study group than controls (p=0.001, p=0.049 and p=0.033, respectively). Mean nesfatin-1 levels in the malnourished group was also significantly lower compared to the healthy controls (3871.2 ± 1608.8 vs. 5515.0 ± 3816.4 pg/mL, p=0.012). No significant difference was observed in the orexin-A levels between the two groups (malnourished vs. control groups: 1135.7 ± 306.0 vs. 1025.7 ± 361.6 pg/mL, p=0.141). Correlation analyses revealed a positive correlation of nesfatin-1 and a negative correlation of orexin-A with body mass index (BMI) z-score. ROC analysis demonstrated that nesfatin-1 and orexin-A cannot be used to distinguish children with malnutrition from healthy controls (AUC: 0.620, p=0.061 for nesfatin-1 and AUC: 0.584, p=0.190 for orexin-A). Conclusion: The positive correlation of nesfatin-1 and the negative correlation of orexin-A with BMI suggest that these neuropeptides may be a part of a protective mechanism in the maintenance of nutritional status and that they may have a role in regulating food intake in undernourished children.

Background/Aims: This study aimed to understand the role of non-alcoholic fatty liver disease (NAFLD) in increasing the risk of atherosclerosis in obese pediatric patients. Materials and Methods: The study included 109 obese children (age, 9-15 years) and a control group comprising 44 healthy age- and gender-matched children with normal weight. NAFLD was diagnosed using conventional ultrasound (US) examination. Both right carotid intima-media thickness (CIMT) and flow-mediated dilation (FMD) were assessed in addition to anthropometric measures and serum biochemical parameters, including lipid profile and fasting glucose and insulin levels. Homeostatic model assessment of insulin resistance (HOMA-IR) was calculated as a measure of insulin resistance. Results: Mean age and gender distributions were similar in the obese children and control group (p=0.168 and p=0.705, respectively). Median body mass index standard deviation scores of obese children with grade II-III NAFLD were significantly higher than those of obese children without hepatosteatosis (p

PubMedID: 25262569 Objective: The spectrum of genetic alterations in cases of hypogonadotropic hypogonadism continue to expand. However, KISS1R mutations remain rare. The aim of this study was to understand the molecular basis of normosmic idiopathic hypogonadotropic hypogonadism. Methods: Clinical characteristics, hormonal studies and genetic analyses of seven cases with idiopathic normosmic hypogonadotropic hypogonadism (nIHH) from three unrelated consanguineous families are presented. Results: One male presented with absence of pubertal onset and required surgery for severe penoscrotal hypospadias and cryptorchidism, while other two males had absence of pubertal onset. Two of four female cases required replacement therapy for pubertal onset and maintenance, whereas the other two had spontaneous pubertal onset but incomplete maturation. In sequence analysis, we identified a novel homozygous nonsense (p.Y323X) mutation (c.C969A) in the last exon of the KISS1R gene in all clinically affected cases. Conclusions: We identified a homozygous nonsense mutation in the KISS1R gene in three unrelated families with nIHH, which enabled us to observe the phenotypic consequences of this rare condition. Escape from nonsense-mediated decay, and thus production of abnormal proteins, may account for the variable severity of the phenotype. Although KISS1R mutations are extremely rare and can cause a heterogeneous phenotype, analysis of the KISS1R gene should be a part of genetic analysis of patients with nIHH, to allow better understanding of phenotype-genotype relationship of KISS1R mutations and the underlying genetic basis of patients with nIHH. © 2014 John Wiley & Sons Ltd.

To determine whether there were diffusion tensor imaging (DTI) changes in the brain among children with Type 1 diabetes mellitus (DM) and investigate the correlation between the fractional anisotropy (FA) and apparent diffusion coefficient (ADC) values and neurocognitive functions.35 children with Type 1 DM and 21 age-matched healthy control subjects were included. Neurocognitive functions of subjects with Type 1 DM were evaluated. In both groups, FA and ADC values were calculated in 20 different locations. The association between neurocognitive function tests and FA and ADC values was investigated.Subjects with diabetes had significant changes in FA and ADC values in widespread brain regions compared with the healthy control group. ADC values in the caudate nucleus were negatively associated with verbal point. Increased ADC values in the genu of the corpus callosum were positively associated with Stroop test. There was a negative correlation between the ADC values of the parietal white matter and the judgment of line orientation test. FA values of the inferior longitudinal fasciculus were positively correlated with performance point. However, a negative correlation was noted between FA values of mid-brain and intelligence quotient level as well as another negative correlation between FA values of the posterior crus of the internal capsule and thalamus with verbal point.Subjects with diabetes demonstrated significant changes in FA and ADC values in widespread brain regions, and such changes could be early features of injury to myelinated fibres or axonal degeneration. Our findings suggest that brain damage may have begun at the cellular level in the initial stage of Type 1 diabetes and neurocognitive impairments may be inevitable.DTI can demonstrate ADC and FA changes which are well correlated with neurocognitive dysfunction in the brains of children with Type 1 DM. This may help us in guiding preventive measures in early period of the disease before deterioration of neurocognitive functions.

Obesity is an important health issue, the prevalence of which is increasing in childhood. The aim of this study was to examine urinary renal injury markers in order to determine the renal effect of obesity and its comorbidities in a pediatric population.Eighty-four obese children and 64 healthy control subjects were enrolled in the study. We checked their urine using N-acetyl-beta-D-glucosaminidase (NAG), neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1), and microalbumin as renal injury markers. Associations of renal damage markers with hypertension, an impaired glucose tolerance test, and insulin resistance were assessed.Obese individuals had higher urinary NAG and KIM-1 values compared to those of healthy controls (p = 0.027, p = 0.026). There was no difference in urinary NGAL between obese and lean subjects (p = 0.885). Urinary renal injury markers were not statistically different in the obese group when checked for impaired glucose tolerance, insulin resistance, and hypertension (p 0.05).This study shows that urinary NAG and KIM-1 could be used as a screening method for detection of early renal damage in obese children.

Ob­jec­ti­ve: We aimed to determine the association of thyroid functions with the components of metabolic syndrome (MS) and non-alcoholic fatty liver disease (NAFLD) in pediatric obese patients. Methods: The study included 109 obese children (aged 9-15 years) and a control group of 44 healthy age and gender-matched children of normal weight. NAFLD was diagnosed by conventional ultrasound examination. We assessed the anthropometric data and serum biochemical parameters including lipid profile, alanine aminotransferase (ALT), fasting glucose and insulin levels and thyroid stimulating hormone (TSH), free thyroxine (fT4) and free triiodothyronine (fT3) levels. The homeostasis model assessment of insulin resistance (HOMA-IR) was calculated as a measure of IR. Results: The mean age and gender distributions in the groups were similar (p=0.23). The mean body mass index (BMI) z-scores of obese children with grade 2-3 NAFLD were significantly higher than those of the obese children without hepatic steatosis (p

Hatun, Sukru/0000-0003-1633-9570; Mengen, Eda/0000-0003-1597-8418; binay, cigdem/0000-0002-7749-8818; UCAKTURK, Seyit Ahmet/0000-0001-8666-4454 WOS: 000381646900004 PubMed: 27423071 Aims: To evaluate the management strategies, glycemic control and complications of pediatric type 1 diabetes mellitus (T1DM) patients in Turkey. Methods: Study included 498 patients with T1DM between the ages 1-18. Data provided from patients' hospital files were recorded on standard case report forms by applicant clinicians within the 3 months of data collection period between October 2012 and July 2013. Results: Mean age of patients was 11.3 +/- 3.8 years. Mean duration of DM was determined as 3.7 +/- 3.1 years. Majority of patients (85.5%) used basal/bolus injection (BBI), and 6.5% used continuous subcutaneous insulin infusion pump. Assessment of glycemic control based on HbA1c levels showed that 29.1% of patients had an HbA1c value 9%(75 mmol/mol). Hypoglycemia was reported in 145 (29.1%) patients and the number of severe hypoglycemic attacks in the last 3 months was 1.0 +/- 2.4. Taking into consideration the carbohydrate count and insulin correction dose and parents with high socioeconomic status was related to have better glycemic control. The most common comorbidities were Hashimoto's thyroiditis/hypothyroidism (6.2%) followed by celiac disease (3.8%), epilepsy(1.2%), and asthma(1.0%). Conclusions: BBI insulin therapy is widely used among pediatric T1DM patients in Turkey. However, despite improvements in treatment facilities and diabetic care, glycemic control is not at a satisfactory level. Therefore, new and comprehensive initiatives require for pediatric T1DM patients with poor glycemic control. Promoting use of carbohydrate count and insulin correction doses may improve the glycemic control of pediatric T1DM in Turkey. (C) 2016 Elsevier Ireland Ltd. All rights reserved. Sanofi Study was funded by Sanofi.

Background: This study was conducted to investigate CTNS (cystinosin, lysosomal cystine transporter) gene mutations and the clinical spectrum of nephropathic cystinosis among patients diagnosed with the disease in a single center in Turkey. Methods: Patients’ clinical and laboratory data were extracted from an electronic health registry. Molecular CTNS gene analysis was performed using either next-generation sequencing or Sanger sequencing. Results: Eleven patients (age range: 1.5–12 years) from nine families were identified. The presenting complaint was growth retardation in seven patients; polydipsia and polyuria in three patients; and vomiting in two patients. At presentation, electrolyte loss was noted in all patients, of which eight patients presented with metabolic acidosis, and three patients presented with metabolic alkalosis. All patients also presented with proteinuria and glucosuria, and four patients developed varying degrees of renal insufficiency, for which peritoneal dialysis was initiated in one patient. Cystine crystals were detected via ocular examination in one patient at presentation. No cystine crystals were detected among patients who underwent bone marrow aspiration. In the CTNS gene, a p.T7FX7 (c.18-21del4bp) mutation was detected in three patients, whereas a p.E227E (c.681 G>A) (homozygous) mutation was detected in eight patients. Conclusions: We detected two distinct mutations, p.T7FX7 (c.18-21del4bp) and p.E227E (c.681 G>A) (homozygous), in the CTNS gene in 11 patients with cystinosis from the East Anatolian region of Turkey. Patients with a homozygous c.681 G>A (p.E227E) mutation are more likely to develop chronic renal failure and should be monitored closely, whereas patients with a p.T7FX7 (c.18-21del4bp) mutation have a milder phenotype. Additionally, metabolic alkalosis does not exclude cystinosis, although cystinosis is a cause of proximal renal tubular acidosis.

WOS: 000382752700003, Objective: Vitamin D is essential for bone development and health, and deficiency resulting in rickets and skeletal deformities is seen mainly during rapid growth. Hereditary vitamin D dependent rickets type I and type II rickets is a very rare form of rickets, characterized by 1-alpha-hydroxylase deficiency or end-organ resistance to vitamin D. We aimed to investigate, clinical and laboratory characteristics of eight cases with Vitamin D-dependent rickets (VDRR). Method: The mean age of patients during diagnosis was 2.6 years. Excluding one patient, others were males (87.5%). Results: Mean laboratory values during referral was calcium 7.5 +/- 1,5 mg/dl, phosphorus 4 +/- 1.2 mg/dl, alkaline phosphatase (ALP) 1679 +/- 641 U/L and parathyroid hormone (PTH) 524 +/- 498 pg/ml. Patients received 1.2 mu g/kg/day calcitriol. During follow-ups serum ALP and PTH values of patients turned to normal levels. Conclusion: In rickets, cases with persistent increased serum ALP and PTH levels it will be appropriate to investigate serum 25 (OH) D levels in cases diagnosed with vitamin D-dependent rickets even though hypocalcaemia is absent. Administration of adequate doses of calcitriol in some cases is able to clinical and laboratory values return to normal.

Summary Objective Nonsyndromic autosomal recessively inherited nongoitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG. Design Because consanguinity in individuals with a presumptive genetic condition is often an indicator of an autosomal recessive inheritance and allows firmer correlations to be established between genotype and phenotype, we planned to execute our study in consanguineous families. Patients Hundred and thirty-nine children with CHNG phenotype born to consanguineous families. Measurements First, we investigated cases for evidence of linkage to the four known CHNG genes by microsatellite marker analysis. Mutation analysis by direct sequencing was then performed in those cases in whom linkage to the relevant candidate gene could not be excluded. In addition, in silico analysis of the predicted structural effects of TSHR mutations was performed and related to the mutation-specific disease phenotype. Results Homozygous germline TSHR mutations were detected in six families (5%), but no mutations were detected in PAX8, TSHB and NKX2-5. Four of TSHR mutations had not previously been described. Genotype–phenotype correlations were established and found to be related to the predicted structural effects of the mutations. Conclusions Known causative genes account for the development of CHNG only in a minority of cases, and our cohort should provide a powerful resource to identify novel causative genes and to delineate the extent of locus heterogeneity in autosomal recessively inherited CHNG.

Objective: Insulin-like growth factor binding protein-4 (IGFBP-4), inhibits IGF actions under a variety of experimental conditions. Parathyroid hormone (PTH), 1.25-hydroxy(OH)vitamin D, IGF-I, IGF-II and transforming growth factor (TGF)-b are the major regulators of IGFBP-4 production in vitro. However, little is known about the in vivo regulation of circulating IGFBP-4 in humans. Methods: We measured serum concentrations of calcium (Ca), phosphorus (P), alkaline phosphatase (ALP), PTH, vitamin D, IGF-I, IGFBP-3, and IGFBP-4 in infants (n=22) with nutritional rickets before and after treatment of rickets with vitamin D (300 000 U single dose po). Results: The mean±SD age of the patients was 1.3±1.6 years (range 0.2-3). Serum Ca and P increased, whereas ALP and PTH decreased after treatment (Ca from 6.6±1.4 to 9.5±1.6 mg/dL, P from 3.9±1.4 to 5.4±0.8 mg/dL, ALP from 2590±2630 to 1072±776 IU/mL and PTH from 407±248 to 27.4±20.8 ng/dL, respectively). Vitamin D levels were low (7.8±2.5 ng/mL) and increased after treatment (18.1±4.0 ng/mL, p

Bisphenol A (BPA) is known as an endocrine disruptor and it is supposed to have a role on the development of central precocious puberty (CPP). Kisspeptin, a hypothalamic peptide, is a neuromodulator of gonadotropin releasing hormone and it has an important role on regulation of the onset of puberty. The BPA levels in girls with CPP and premature thelarche (PT) and its relation with kisspeptin levels were investigated.Twenty-eight girls with CPP, 28 girls with PT and 22 prepubertal girls as a control group were enrolled to the study. Urinary BPA and serum kisspeptin levels were compared in the groups. Bivariate correlations were performed to evaluate the relations of BPA with kisspeptin and estradiol.There was no statistical difference between groups regarding BPA levels. Serum kisspeptin levels were higher in CPP group than controls [306.56 (interquartile range (IQR), 175.63–504.66) vs. 157.62 (IQR, 55.61–285.00) p: 0.008]. There were no correlations between BPA and kisspeptin levels (r: 0.088, p: 0.391) and between BPA and estradiol (r: –0.171, p: 0.144).The BPA levels did not differentiate between groups and it seems that the exposed amount of BPA in daily life did not affect kisspeptin levels in girls with CPP and PT.

To investigate relationship between anthropometric values of premature babies with their's glucose, insulin, leptin, and ghrelin at birth and on day 15.We analyzed fasting and postprandial glucose, insulin, leptin, and ghrelin levels at birth and on day 15 in babies born prematurely between 24 and 37 weeks, and who did not have serious problems aside from prematurity at birth.Fasting glucose, insulin, leptin and ghrelin values of babies at birth and on day 15 were significantly lower than postprandial values (all p values p 0.001). There were positive correlations between the mean insulin, leptin, and ghrelin levels with the gestational age, birth weight, body mass index, head circumference of babies at birth, and anthropometric values on day 15 (all r values 0.400, all p values 0.05). Fasting glucose, leptin, and ghrelin values of mothers birth were significantly lower than post-prandial values (all p values p 0.05).The positive correlations between the insulin, leptin, and ghrelin values of babies at birth with gestational age and anthropometric values suggest that both hormones play important roles in fetal and neonatal growth and development.

We studied serum calcium, phosphorus, alkaline phosphatase (ALP), thyroid hormones (total thyroxine [TT4], free thyroxine [FT4], thyroid-stimulating hormone [TSH]), parathyroid hormone (PH), and osteocalcine levels in children with epilepsy who had been receiving long-term carbamazepine (CBZ) therapy to determine whether there was any effect of CBZ therapy on these hormones. The study included 18 patients with epilepsy receiving CBZ and 16 healthy age-matched controls. The age ranged from 4-18 years (11.26 +/- 3.59 years) and 4.5-17 years (11.16 +/- 3.13 years) in the study and control group, respectively. The duration of CBZ use was between 10 months-5 years (3.12 +/- 1.09 years). When comparing the results we did not find any significant difference in serum calcium, phosphorus, ALP, osteocalcine and TSH and PH levels between the groups (p >.05). However, serum TT4 and FT4 levels were found to be significantly lower in the study group than those of control group (p

In this study, we studied serum calcium, phosphorus, alkaline phosphatase, thyroid hormones (total thyroxine, free thyroxine, thyroid-stimulating hormone), parathyroid hormone, and osteocalcine levels in children with epilepsy who had been receiving long-term valproate (VPA) therapy in order to determine whether there was any effect of VPA therapy on these hormones. The study included 31 patients with epilepsy receiving VPA and 22 healthy age-matched controls. The age ranged from 15 months to 16 years and 18 months to 17 years in the study and control group, respectively. The duration of VPA use was between 12 months and 5 years (1.93 +/- 1.90 years). When comparing the results, we did not find any significant difference in any of the parameters, including serum calcium, phosphorus, alkaline phosphatase, osteocalcine, and thyroid and parathyroid hormone levels, between the study and control group. We suggest that VPA can safely be used with regard to thyroid and parathyroid dysfunction in childhood epilepsy.

Celiac crisis is a life threatening and very rare complication of Celiac disease. Clinically, it is characterized by severe diarrhea, dehydration and metabolic disturbances like hypokalemia, hypomagnesemia, hypocalcemia, hypoproteinemia. A 2.5-years-old-girl with diarrhea, weight loss, abdominal distention, extremities edema, vomit which occurred after the beginning of supplementary nutrition was presented to emphasize that celiac crisis should be keep in mind in patient with gastrointestinal symptoms, which are best known in celiac disease, metabolic disturbance and abdominal distention.

In this study serum immunoglobulins (Ig) and IgG subclasses were measured in 42 patients (ranging 9 month-6 year) with recurrent wheezing and in 37 healthy children determined the relationship between serum Igs and recurrent wheezing. Patients were divided into two groups according to the age [9 month-2 year (n: 15), and 2-6 year (n: 27)]. In the patients placed in 9-24 month age group, serum IgG4 level was found to be lower than controls (p0.05). But there was not a significant difference in mean serum concentrations of total IgG, IgA, IgM, IgE, IgG1, IgG2 and IgG3 subclasses between the groups (P0.05). In the 25 month-6 year age group the mean IgE level was increased compared to the control while IgG3 and IgG4 levels were decreased (p0.05). On the other hand, in the 9-24 month age group there was no significant difference between the patients and controls for IgG subclasses deficiency (P0.05). However, significant difference in IgG subclasses deficiency was present between the patients and controls in the 25 month-6 year group (P0.001). In conclusion, our findings suggest that wheezing in childhood may be associated with low IgG3 and/or IgG4, and in older children high IgE level may be a part of pathogenetic mechanism in patients with recurrent wheezing.

AIM Hypocalcaemia evaluation of the clinical, biochemical and radiologicalfeatures of 91 infants with rickets who presented as hypocalcaemic convulsions. SUBJECTS AND METHODS Ninety-one hypocalcaemic infants who were brought to hospital with convulsion and diag-nosed with rickets related to vitamin D deficiency according to their clinical, biochemical and radio-logicalfeatures were retrospectively reviewed. RESULTS Mean values of the laboratory data were as follows: calcium 5.55 +/- 0.79 mg/dL, phosphorus 4.77 +/- 1.66 mg/dL, alkaline phosphatase 1525.5 +/- 925.4 U/L and parathormone 256.8 +/- 158.3 pg/mL. Serum 25-OH vitamin D levels were below normal (< 20 ng/mL) in 37 infants. CONCLUSION Vitamin D deficiency should be considered in infants presenting with hypocalcaemia. To avoid complications such as convulsions, clinicians should give vitamin D supplementation to such infants.

Wolfram syndrome, also named -DIDMOAD- (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the third and fourth decade. The wolframin gene, WFS1, associated with this syndrome, is located on chromosome 4p16.1. Many mutations have been described since the identification of WFS1 as the cause of Wolfram syndrome. We identified a new homozygous WFS1 mutation (c. 1532T>C; p.Leu511Pro) causing Wolfram syndrome in a large inbred Turkish family. The patients showed early onset of IDDM, diabetes insipidus, optic atrophy, sensorineural hearing impairment and very rapid progression to renal failure before age 12 in three females. Ectopic expression of the wolframin mutant in HEK cells results in greatly reduced levels of protein expression compared to wild-type wolframin, strongly supporting that this mutation is disease-causing. The mutation showed perfect segregation with disease in the family, characterized by early and severe clinical manifestations. (C) 2011 Elsevier Masson SAS. All rights reserved.

OBJECTIVE To determine the oxidative stress and trace element levels in vivo in patients with nutritional rachitism associated with vitamin D deficiency. MATERIALS AND METHOD A total of 30 patients, 18 males and 12 females, were included in the study. Age, sex, medical history, vital, and physical examination findings of each patient documented at presentation were recorded. Serum calcium, phosphorus, alkaline phosphatase, parathormone, and 25-OH vitamin D levels, as well as oxidant and antioxidant system parameters and trace element levels were studied. After being diagnosed with rachitism, the patients were administered a single dose of 300,000 IU vitamin D by intramuscular injection. The same analyses were repeated post-treatment. Thirty children with normal anthropometric measurements were included as the control group. The analyses described above were performed only once for the control group. RESULTS Serum calcium, phosphorus, alkaline phosphatase, parathormone, and 25-OH vitamin D levels were different between the controls and children in the patient group (p

Mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, is a lysosomal storage disorder that results from a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase or arylsulfatase B (ASB). It is a relatively rare disorder, with an estimated incidence of 1 in 248,000 to 1 in 300,000. The diagnosis is made on the basis of findings of elevated urine glycosaminoglycans and a deficiency of ASB activity in leukocytes or cultured fibroblasts. In treatment of MPS VI, enzyme replacement therapy (galsulfase; human recombinant ASB enzyme) became available. Infusions of galsulfase were generally well tolerated. But in some patients, infusion-associated reactions including rash, urticaria, headache, hypotension, nausea, and vomiting were documented and were managed successfully by interrupting or slowing the rate of infusion and/or by the administration of antihistamines, antipyretics, corticosteroids, or oxygen. Here, we report a case with MPS VI who developed thrombocytopenia after third dose of therapy. To the best of our knowledge, this is the first report about thrombocytopenia associated with galsulfase therapy in the literature. Additionally, with this report, we want to share our approach for this case.

BACKGROUND The aim of the present study was to determine whether or not there was a role for immunoglobulin (Ig) or IgG subgroups in the pathogenesis of febrile seizures (FS). METHODS Serum levels of IgA, total IgG, IgM, IgE, IgGI, IgG2, IgG3 and IgG4 were measured in 34 children with FS and in 37 healthy children used as a control group. Both patients and controls were divided into two groups according to age (group I, 6-24 months; group II, 25-72 months). RESULTS Compared with controls, mean IgG4 levels in patients were found to be decreased in both groups I and II (group I: 95 +/- 14 vs 57 +/- 5, respectively, P = 0.01; group II: 178.5 +/- 38.5 vs 65.1 +/- 24.5, respectively, P < 0.01), while mean IgG2 levels were found to be decreased only in group II patients (170 +/- 16 vs 103 +/- 22; P < 0.05). CONCLUSIONS The results of the present study suggest that Ig subclass deficiencies may be responsible for the infections connected with FS or that they may be related to the pathogenesis of FS in some children.

Aim: To investigate the ratio of rickets and vitamin D deficiency in healthy adolescents at Van region. Method : Totally 126 cases were included in this study. All cases were evaluated for the presence of rickets symptoms, daily sun exposure,and vitamin usage, covering and eating habit. Diagnosis of rickets was made based on biochemical findings. The children whose vitamin D levels were lower than 10 ng/dl were accepted as vitamin 25(OH)D3 deficiency, but whose levels between 10-20 ng/dl were accepted as vitamin D insufficiency. Result: Sixty girls (47.6%) and 66 boys (52.4%) were included in this study. They were between 9 and 17 years old (11.94 ± 1.9 years). Vitamin D levels in 60 (47.6%) cases were normal, but 48 (38.1%) cases had rickets, 13 (10.3%) cases had vitamin D insufficiency and 5 (4.0%) cases had vitamin D deficiency. There was no statistically significant difference in the incidence of rickets between the cases with or without covered-dress. However, there was a significant difference in the incidence of vitamin D insufficiency (p< 0.05). All of the cases had less daily calcium, phosphorus, protein and vitamin D intake than recommended daily amount. In the rickets group, alkaline phosphatase levels were significantly higher comparing with the others (p< 0.05), but there was no difference in plasma intact parathyroid hormone levels. Conclusion: Our findings revealed that most adolescents who appeared to be healthy (52.4%) could have vitamin D insufficiency. Therefore, we believe that dietary education and/or vitamin D prophylaxis might be given to all adolescents. However, more extensive researches should be done to elucidate of our suggestion′s correction

Celiac disease (CD) is manifested by a variety of clinical signs and symptoms that may begin either in childhood or adult life. Neurological symptoms without signs of malabsorption have been observed for a long time in CD. In this report, an 8-year-old girl with CD presented with rarely seen dilated cardiomyopathy and stroke. The girl was admitted with left side weakness. Her medical history indicated abdominal distention, chronic diarrhea, failure to thrive, and geophagia. On physical examination, short stature, pale skin and a grade 2 of 6 systolic murmur were detected. Muscle strength was 0/5 on the left side, and 5/5 on the right side. Coagulation examinations were normal. Tests for collagen tissue diseases were negative. Factor V Leiden and prothrombin GA20210 mutations were negative. Tandem mass spectrophotometry and blood carnitine profiles were normal. Brain magnetic resonance imaging and cerebral angiography showed an infarction area at the basal ganglia level. Examinations of serologic markers and intestinal biopsy revealed CD. We emphasize that in differential diagnosis of ischemic stroke, CD should be kept in mind. (C) 2010 Baishideng. All rights reserved.

In this study, 31 (30%) cases of urinary tract infection(UTI) of 103 patients with malnutrition, who were admitted to ourhospital, were investigated prospectively. Our purpose was to determinethe frequency of UTI, species of bacteria caused toinfection and their antibiotic susceptibility in infants withmalnutrition. The mean age of the patients with UTI was 11.5 ±7.6 months (ranging 50 days-30 months). The main symptoms were fever,vomiting, diarrhea, cough, and seizures. The mean body weight was 5.8± 1.9 kg (2–10 kg), and height was 67.5 ± 7.8 cm(58–85 cm). Seven of them had mild, 11 had moderate, and 13 hadsevere malnutrition. The most common isolated microorganism from urinecultures was Escherichia coli (54.8%). Most strains ofEscherichia coli were resistant to co-trimoxazole(82.3%), ceftriaxone (17.6%), cefotaxime (17.6%),and ciprofloxacine (17.6%), but none of them were resistant togentamicin. In conclusion, we would like to emphasize that UTIpredominantly by gram negative microorganisms are frequent in theinfants with malnutrition, and these microorganisms are mostly resistantto co-trimoxazole which is used commonly in practical medicine andprophylaxis.

Aim: To determine the effect of zinc (Zn) therapy on serum insulin-like growth factor-I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3) levels in children with Zn deficiency and growth retardation, but without systemic disease, and to investigate the effect of Zn supplementation on these parameters. Methods: Twenty-nine children (11 girls and 18 boys) were included. Blood samples were obtained for serum IGF-I and IGFBP-3 determination before and after 50 mg/day Zn supplementation for two months. Results: The mean age of the children was 11.0 ± 3.1 years (range 3.7-16.2 years). Serum IGF-I and IGFBP-3 levels were below the mean values in 28 (96.6%) and all children, respectively. After Zn therapy, serum IGF-I levels were increased in 62% of the children; this increase was statistically significant in 48.3% of the children. Serum IGFBP-3 levels were significantly increased in 10 children. There was a positive correlation between serum Zn level and bone age, and serum IGF-I and IGFBP-3 levels. A positive correlation was present between BMI (r = 0.485, p

Aim: To examine the effect of 25-OH vitamin D 3 on the immune system in patients with nutritional rickets. Methods: Fifty-three patients were included in our study between April 2002 and March 2004. Diagnosis of rickets was based on clinical, biochemical and radiological examinations. Cell surface markers (CD), complement factors (C), and immunoglobulin (Ig) levels were determined to find out any relationship between rickets and immune system deficiency. Results: Among the causes of admission to hospital, fever (66%) and coughing (62.2%) were the most frequent. Pneumonia was accompanied by rickets in 47.1 % of the cases. Plasma CD4 levels before the treatment were higher than those in the post-treatment period, whereas CD20 and CD56 levels were lower. Conclusion: B cell and natural killer cell reduction which occur because of vitamin D deficiency may contribute to the development of pneumonia and other infections in patients with nutritional rickets.

Vitamin B12 and folate deficiency causing neuropsychiatric and thrombotic manifestations, such as peripheral neuropathy, subacute combined degeneration of cord, dementia, ataxia, optic atrophy, catatonia, psychosis, mood disturbances, myocardial infarction and portal vein thrombosis are well known. This present report highlights an unusual presentation of vitamin B12 deficiency-psychotic disorder, extrapyramidal symptoms in a 12-year-old boy. His symptoms responded to parenteral vitamin B12 therapy. So with this report we emphasized that serum vitamin B12 and folate levels should be measured, especially in those patients who present with other known neuropsychiatric features of vitamin B12 and folate deficiency.

Context: The Middle East has a high incidence of rickets, and it is also common in Europe-dwelling children of Middle Eastern origin. Objective: The objective of the study was to explore the mechanisms leading to rickets in children of the Middle East. Design and Setting: We conducted a prospective study in 98 rachitic and 50 controls (aged 6 months to 4 yr) from university and community outpatient hospitals in Egypt and Turkey. Main Outcome Measures: We collected epidemiological, maternal, nutritional, radiographic, and biochemical parameters; markers of bone turnover; and vitamin D receptor (VDR) gene polymorphisms. Results: Epidemiological factors had a key role in pursuit of rickets; Egyptian and Turkish patients had lower (P < 0.01) dietary calcium intake than controls and the recommended dietary intakes, and serum 25-hydroxyvitamin D levels were reduced in patients, the difference with controls being significant (P < 0.001) only in Turkey, although rickets was more severe in Egypt as determined by the x-ray score (P < 0.05). In Turkey, the F VDR allele frequency was significantly (P < 0.05) increased in patients. The BB VDR genotype was associated with lower serum 25-hydroxyvitamin D levels in both patients and controls and with severity of rickets. Conclusions: In Turkey most patients had vitamin D deficiency, whereas in Egypt they had mostly calcium insufficiency combined with vitamin D deficiency. In this environ, VDR genotypes may predispose to rickets by increased frequency of the F allele. The unique environs and genetic predisposition have to be accounted for in the design of preventive measures, rather than using European or American recommended dietary intake for calcium and vitamin D.

An outbreak of highly pathogenic avian influenza A (H5N1) that had previously been detected throughout Asia, with major economic and health repercussions, extended to eastern Turkey in late December 2005 and early January 2006.We documented the epidemiologic, clinical, and radiologic features of all cases of confirmed H5N1 virus infection in patients who were admitted to Yuzuncu Yil University Hospital in Van, Turkey, between December 31, 2005, and January 10, 2006.H5N1 virus infection was diagnosed in eight patients. The patients were 5 to 15 years of age, and all eight had a history of close contact with diseased or dead chickens. The mean (+/-SD) time between exposure and the onset of illness was 5.0+/-1.3 days. All the patients had fever, and seven had clinical and radiologic evidence of pneumonia at presentation; four patients died. Results of enzyme-linked immunosorbent assay and rapid influenza tests were negative in all patients, and the diagnosis was made by means of a polymerase-chain-reaction assay.H5N1, which causes a spectrum of illnesses in humans, including severe and fatal respiratory disease, can be difficult to diagnose.

In this study, we compared three different therapy modes (150,000 IU, 300,000 IU, and 600,000 IU vitamin D p.o.) in infants with nutritional vitamin D deficiency rickets (VDR). Our purpose was to determine the most effective dosage of vitamin D with least side effects for treating VDR. The study included 56 patients, 3-36 months of age, with nutritional VDR and 20 age-matched control infants. In all infants, serum calcium, phosphorus, alkaline phosphatase, magnesium, serum 25-hydroxycholecalciferol, plasma intact parathormone levels and urinary Ca/creatine ratio were determined. Of 56 patients, 52 were able to be followed long-term. These patients were reexamined on the 3(rd) day, 7-10(th) day, and 25-30(th) day after treatment. On the 30(th) day post-treatment, we did not find any difference between the doses in the improvement of rickets. However, hypercalcemia was present in eight infants who had been administered 300,000 IU (two infants) and 600,000 IU (six infants) of vitamin D. In conclusion, our findings showed that 150,000 IU or 300,000 IU of vitamin D was adequate in the treatment of VDR, but 600,000 IU of vitamin D may carry the risk of hypercalcemia.

We report a 2-8/12 year-old male who presented with symptoms resembling cystic fibrosis (failure to thrive, developmental delay and recurrent diarrhea) and had elevated sweat chloride concentration. Mucosal hyperpigmentation led to the diagnosis of adrenal insufficiency which was ultimately shown to be a component of triple A syndrome (achalasia, alacrima, adrenal insufficiency). Elevated sweat chloride concentration normalized after initiation of adrenal replacement therapy. We suggest that non-CF conditions causing elevated sweat chloride concentration should be considered in patients with atypical findings or who do not have objective evidence of pulmonary or exocrine pancreatic disease.