OBJECTIVE:Triple-A syndrome occurs due to the dysfunction of the ALADIN protein as a result of a mutation in the AAAS gene. ALADIN is involved in redox homeostasis in human adrenal cells and steroidogenesis. It has also been shown to have important roles in DNA repair and the protection of cells against oxidative stress. We planned to investigate serum thiol/disulfide homeostasis, which is a part of redox hemostasis in patients with Triple-A syndrome.PATIENTS AND METHODS:The study included patients with the Triple-A syndrome (26 patients) and healthy children (26 patients). Thiol and disulfide levels of patients and healthy groups were compared. In addition, patients with the Triple-A syndrome were divided into 2 subgroups according to the mutation type, and their thiol and disulfide levels were compared.RESULTS:Triple-A syndrome patients had increased native thiol (SH), total thiol (SH+SS) concentrations, and native thiol/total thiol (SH/SH+SS) ratios than healthy controls. However, Triple-A syndrome patients had lowered disulfide (SS), disulfide/native thiol (SS/SH), and disulfide/total thiol (SS/SH+SS) ratios than the controls. When the group with the p.R478* mutation and the group with other mutation were compared, disulfide level, disulfide/native thiol ratio, and disulfide/total thiol ratio were statistically higher in the group with the p.R478* mutation, while native thiol/total thiol ratio was found to be lower. However, no statistical difference was found between native thiol and total thiol levels.CONCLUSIONS:This is the first study in the literature to evaluate thiol-disulfide homeostasis in patients with the Triple-A syndrome. Patients with Triple-A syndrome had an increased level of thiol compared with healthy controls. Comprehensive studies are needed to clarify these thiol levels, which are thought to be compensatory. Also, mutation type affects thiol-disulfide levels.

Background: H syndrome is a rare genodermatosis deriving from a mutation in the SLC29A3 gene and affecting numerous systems, particularly the skin. The syndrome exhibits different clinical characteristics involving several systems, most beginning with the letter "H." The most common clinical findings are cutaneous hyperpigmentation, flexion contracture in the fingers, hearing loss, short stature, insulin-dependent diabetes mellitus, heart anomalies, hepatosplenomegaly, and hypogonadism. Fewer than 150 cases have been reported so far and vast majority of them consisted with patients with Arab ethnicity. Case Presentation: We describe a patient presenting with short stature, developing diabetes mellitus at follow-ups, with homozygous deletion determined in exon 3 of the SLC29A3 gene, and diagnosed with H syndrome, reported due to the presence and rarity of renal involvement (hematuria and proteinuria). Conclusion: In conclusion, despite its rarity, endocrinologists, rheumatologists/nephrologists, and dermatologists need to be aware of H syndrome as a pleiotropic syndrome. H syndrome should be considered in the differential diagnosis of patients with cutaneous hyperpigmentation (particularly in the bilateral thigh and calf region) together with proteinuria/hematuria. In addition, periodic urine analysis should be performed in patients with H syndrome.

BACKGROUND: Excessive alcohol use and alcohol use disorders (AUDs) are serious medical problems in general populations. Alcohol use is associated with stressful events. Thus it is possible that problems with alcohol use increase in association with disasters. It is important to know the extent to which disasters contribute to these problems in exposed populations. METHODS: This review focused on the associations of alcohol use, problematic alcohol use, and AUDs with disasters. Alcohol variables were examined for predisaster to postdisaster changes and differences between samples according to disaster exposures. RESULTS: In all, 44 studies were found that addressed the association of alcohol variables with disaster. Much of this research had substantive methodological difficulties limiting the conclusions. Most research examining changes in alcohol use after disasters reported increases, but the increases were clinically small, amounting to =1 drink per day, and alcohol use returned to predisaster levels over time. The research on problematic alcohol use provided little evidence of an association with disasters. The studies of AUDs did not support their association with disaster. CONCLUSIONS: Even without clear evidence that disasters cause increases in alcohol use problems, it is important in the postdisaster setting to assess problems of alcohol use along with psychopathology.

BACKGROUND:Dissociation is a serious psychological condition that is characterized as a pathological outcome of trauma-related experience. Thus, dissociation could be expected to develop in survivors of disaster trauma and to be associated with trauma exposure and psychopathology.METHODS:A sample of 278 disaster-affected Kenyans was assessed 8 to 10 months after the 1998 terrorist bombing of the US Embassy in Nairobi for a study of trauma-related psychopathology and dissociation in the context of personality and culture. Instruments of assessment were the Diagnostic Interview Schedule, the Dissociative Experiences Scale, and the Temperament and Character Inventory.RESULTS:Dissociation appeared to represent a largely nonpathological response to the disaster experience that reflected personality variables and a cultural context.CONCLUSIONS:These findings suggest that dissociation encountered in disaster-exposed groups in this cultural setting does not necessarily represent psychopathology, but attention to dissociative responses might help clinicians identify and provide interventions for individuals experiencing distressing intrusive and hyperarousal symptoms.

Introduction Although sepsis in neonates is increasingly less prevalent in developed countries, it continues to represent a cause of significant mortality and morbidity (1). Neonatal sepsis is seen in 1-10/1000 live births. Despite the advances made in antibiotherapy in neonatal sepsis, there are still vital problems for both term and premature newborns (2). Neonatal sepsis is classified as early-onset sepsis (ENS) (0-3 days) or late-onset sepsis (LNS) (4-28 days), depending on the time of onset of symptoms and findings, and as unproved (presence of bacterial growth in hemoculture) or clinical sepsis (no bacterial growth in hemoculture), depending on whether or not a microbiological agent is isolated (3). The gold standard in the diagnosis of sepsis is the growth of one or more microbial agents in blood culture. However, this is not always possible. The main assistant techniques in diagnosis involve inflammatory markers such as white cell count and C-reactive protein (CRP), procalcitonin, fibrinogen, ceruloplasmin, haptoglobin, interleukin-6 (IL-6), serum amyloid-A (SAA), and pentraxin-3 (PTX-3) (4). PTX-3 is an endothelium and

Cocaine use plays a large role in initiating and maintaining homelessness. The present review systematically studied the existing literature on prevalence of cocaine use, cocaine use problems, and cocaine use disorders in the lives of homeless populations. A total of 57 articles with 55 unique studies were included in the review. Cocaine use was quite prevalent in these homeless samples, with around one-third of samples endorsing lifetime use and one-fourth endorsing past year use. Further, prevalence rates for cocaine use problems ranged from around one-fourth to more than one-third across different measurement periods. The median prevalence rate for lifetime cocaine use disorder across studies was 30%. Comparatively, cocaine and cannabis had similar popularity for use, but cocaine was the dominant drug in studies assessing problematic use and disorders. In general, cocaine appeared to be more prevalent in the USA than internationally. Although this literature had methodological inconsistencies limiting comparisons across studies, the findings suggest a major role of cocaine in the initiation and maintenance of homelessness. Further research is needed, especially studies providing prevalence data in multiple time frames, studies comparing prevalence across specific subgroups, and prospective studies.

Aim: Neonatal sepsis is a disease with multisystemic involvement accompanied by bacteremia in the first 28 days of life and in which the pathogen micro-organism spreads to different systems via the blood. Laboratory tests with high sensitivity and specificity are needed for the early diagnosis of neonatal sepsis. The purpose of this study was to investigate the effectiveness of pentraxin 3 in neonatal sepsis. Methods: This prospective clinical study was performed between November, 2015, and March, 2016, with 49 newborns diagnosed with sepsis and under monitoring at the neonatal intensive care unit and with Tollner sepsis scores of 5 or above and with 35 healthy neonates. Blood was collected from every patient diagnosed with sepsis for complete blood count, C-reactive protein, blood culture and pentraxin 3 measurements. Results: No significant difference was determined between the patient and control groups in terms of birth weight or gender. C-reactive protein, leukocyte, and pentraxin 3 levels were found to differ significantly between the healthy newborns in the control group and the septic patients. A significant correlation was observed between pentraxin 3 levels and serum C-reactive protein levels (r=0.44, p<0.05). The area under the curve was statistically significant at logistic regression analysis (area: 0.782). Conclusions: The data from our study show that pentraxin 3 may represent a valuable marker in the differential diagnosis of neonatal sepsis.

Objective Personality is associated with psychopathology after disasters, but its association with the portion of postdisaster psychopathology that is incident remains unclear. It is also unclear whether any particular attributes of personality are associated with resistance to the persistence or recurrence of preexisting psychopathology after disasters. This exploratory study of employees of workplaces affected by the September 11, 2001, attacks on the World Trade Center in New York City examined the specific relationships of personality variables (specifically, novelty seeking, harm avoidance, reward dependence, persistence, self-directedness, cooperativeness, and self-transcendence) to incident postdisaster psychiatric disorders and resistance to the persistence/recurrence of preexisting psychiatric disorders after the disaster. Methods Approximately 3 years after the 9/11 attacks, 379 employees were recruited from 8 selected affected workplaces (3 in the World Trade Center towers, 5 at varied distances in the geographic area). Lifetime predisaster and postdisaster psychiatric disorders were assessed retrospectively with the Diagnostic Interview Schedule for DSM-IV, disaster experience details were collected with the Disaster Supplement, and personality was assessed with the Temperament and Character Inventory. Results Underdeveloped executive functioning (low self-directedness and/or low cooperativeness) was associated with incident postdisaster psychopathology, and components of resilience (low harm avoidance, high self-directedness, and high persistence) were associated with postdisaster resistance to persistence/recurrence of preexisting psychiatric illness. Conclusions Personality is related to both incident and persistent/recurrent portions of postdisaster psychopathology, not clearly distinguished in previous research. Personality variables related to executive functioning and resilience may aid in assessing risk and developing treatments to prevent disaster-related psychopathology.

GLUT-1 deficiency syndrome is a rare, frequently unrecognized metabolic encephalopathy that is probably underdiagnosed. Although developmental delay, acquired microcephaly, spasticity, and impaired coordination were initially described as the classic findings, mild cases with no pronounced neuromotor compromise have since been included in the broad clinical spectrum with new mutations being identified more recently. We report a case of myoclonic seizures not responding to anti-epileptics since the age of one year in a 17-year-old patient with a normal phenotype and neuromotor development. Previously unreported p.Phe389Leu mutation was determined in the SLC2A1 gene in our patient. This case will be useful in clarifying the phenotype of GLUT-1 deficiency and reveals a new pathogenic mutation.

BACKGROUND:Allgrove syndrome (OMIM 231550) is a rare autosomal recessive disease characterized by non-CAH primary adrenal insufficiency (non-CAH PAI), alacrima, and achalasia. It is caused by mutations in the AAAS gene. The syndrome is also associated with variable progressive neurological impairment and dermatological abnormalities.METHODS AND RESULTS:We diagnosed 23 patients from 14 families with Allgrove syndrome, based on the presence of at least two characteristic symptoms, usually adrenal insufficiency and alacrima, between 2008 and 2018. A previously described nonsense variant of AAAS was detected in 19 patients from 12 families at homozygous state. Another novel homozygous mutation (c.394-397delCTGT) in AAAS was detected in four patients from two families. Presenting symptoms were alacrima (23/23; 100%), adrenal insufficiency (18/23; 78%), achalasia (13/23; 57%), short stature/growth retardation (16/23; 70%), hyperreflexia (15/23; 65%), palmoplantar hyperkeratosis (13/23; 57%), hyperpigmentation of the skin (10/23; 43%), hypoglycemia-induced convulsion (7/23; 30%), swallowing difficulty and vomiting (6/23; 26%). Serum DHEAS concentrations were low in all patients (23/23; 100%).CONCLUSIONS:Clinical symptoms vary even among patients carrying the same mutation. Triple A syndrome should be considered in the etiology of non-CAH PAI in Arab populations and in Southeast Turkey. Any child with non-CAH PAI should be evaluated for the presence of alacrima and/or achalasia or family history of alacrima and/or achalasia. Children with alacrima and/or achalasia should also be investigated for adrenal insufficiency. Definitive molecular diagnosis is essential for early diagnosis and management of adrenal insufficiency, neurological symptoms, and growth retardation in patients and early diagnosis of as yet asymptomatic cases in the family, together with genetic counseling.

Objective: Henoch-Schonlein purpura (HSP) is characterized by generalized vasculitis. The etiopathogenesis of the disease is unknown, but inflammation and endothelial dysfunction have been held responsible. Therefore, herein we investigated serum levels of biomarkers indicating endothelial cell damage, inflammation and coagulation in children with HSP. Materials and methods: Twenty six patients with HSP and 26 healthy children were included in the study. Routine biochemical tests and laboratory parameters showing inflammation, coagulation, and endothelial cell damage were examined in all subjects. Results: White blood cell (WBC) number, C-reactive protein (CRP) level, erythrocyte sedimentation rate (ESR), neutrophil/lymphocyte rate (NLR), triglyceride, immunoglobulin A (IgA), and C-3 were significantly higher in children with HSP than the controls. HDL and albumin levels were lower in the patients with HSP. Endocan levels were not significantly different between the HSP and control groups (p = 0.884). Serum endocan levels in patients with HSP were inversely correlated only with activated partial thromboplastin time (APTT) (r = -0.485, p = 0.012). Conclusion: Coagulation abnormalities and increased acute phase reactants were present in patients with HSP while no difference was determined in endocan levels.

Objective: To assess the incidence of type 1 diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015. Methods: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total, as well as gender and age group specific (0-4, 5-9, 10-14 and 15-17 age) mean incidences per 100,000 per year were calculated. Results: There were 1,773 patients diagnosed during 2013-2015 (588 cases in 2013, 592 cases in 2014, 593 cases in 2015). Of these, 862 (48.6%) were girls and 911 (51.4%) were boys. The mean age at diagnosis was 9.2±4.2 years and it was not significantly different between girls (9.0±4.1 years) and boys (9.4±4.4 years) (p=0.052). The crude mean incidence was 8.99/100.000 confidence interval (CI) (95% CI: 8.58-9.42). Although mean incidence was similar between boys [8.98/100.000 (CI: 8.40 to 9.58)] and girls [9.01/100.000 (CI: 8.42 to 9.63)], there was male predominance in all groups except for 5-9 year age group. The standardized mean incidence was 9.02/100.000 according to the World Health Organization standard population. The mean incidence for the 0-4, 5-9, 10-14 and 15-17 age groups was 6.13, 11.68, 11.7 and 5.04/100.000 respectively. The incidence of T1DM was similar over the course of three years (p=0.95). A significant increase in the proportion of cases diagnosed was observed in the autumn-winter seasons. Conclusion: The northwest region of Turkey experienced an intermediate incidence of T1DM over the period of the study.

Aim: The aim of this study was to evaluate the relationships between bone mineral density (BMD) vs metabolic risk factors in obese adolescents with prediabetes. Materials and Methods: A total of 131 obese children and adolescents, aged 6-18 years of age were enrolled the study. Prediabetes was determined by a fasting blood glucose level of ≥100 to 125 mg/dL or 2-hour oral glucose tolerance test value of ≥140 to 199 mg/dL. Five patients who were diagnosed as having type 2 diabetes were excluded and remaining participants were classified as normal glucose tolerance (NGT) and prediabetic. BMD was measured on calcaneus using quantitative ultrasound. BMD and metabolic parameters were investigated and compared in these two groups. Results: There was no significant difference in BMD between children and adolescents with prediabetes (n = 37) or NGT (n = 89). The parameters of prediabetes did not affect BMD and these results did not change when we adjusted for weight, height, age, sex, pubertal status. The multivariate linear regression analysis revealed that the only independent factor associated with higher BMD was higher BMI (OR=0.007 95%CI 0.002-0.013 p=0.013). No significant associations were found between BMD and waist circumference or biochemical measurements.Conclusion: Plasma glucose within the prediabetic range is not associated with bone mineral density in obese children. Thus, the positive association of BMI with BMD may be by means of alternative pathways.

Aim: The lifestyle and environmental changes associated with industrialization and urbanization are crucial factors in determining the prevalence of allergic diseases. Material and Methods: The aim of this study was to determine the prevalence of asthma and other allergic disorders in an industrial town.Study Design: Prospective, Cross-sectional study. This cross-sectional population-based study was conducted in Kemalpasa, Ýzmir, Turkey, which is an industrial town. Using the International Study of Asthma and Allergies in Childhood (ISAAC), the questionnaire was carried out on 1511 school-children aged between 13-14 years living in the district center. Results: The ISAAC Phase One questionnaire was answered by 1373 (90.87%) students. Six hundred ninety two (50.5%) of the children were girls and 681 (49.5%) were boys. The frequency of ever wheezing was 34%,that of current wheezing was 31.1% and that of physician-diagnosed asthma was 4.1%. The frequency of ever rhinitis was 36.6%, current rhinitis was 31.3%, current allergic rhino-conjunctivitis was 22.1% and physician-diagnosed allergic rhinitis was 11.1%. The frequency of ever eczema was 11.3% and that of physician-diagnosed eczema was 3.6%. Conclusion: The prevalence of asthma was found to be significantly higher, although there was no significant difference in allergic rhinitis and eczema compared with non-industrial neighboring states. The incidence of asthma was higher than other provinces which may be explained by the risk factors associated with this industrialized area. The fact that only children of the same age group and residence were evaluated contributed to the epidemiological value of our study.

Aim: Insulin resistance (IR) is considered the main contributor to non-alcoholic fatty liver disease (NAFLD). Triglyceride (TG)-to-high-density lipoprotein cholesterol (HDL-C) ratio (TG/HDL-C) has been recommended as a surrogate index of IR. However, the association between TG/HDL-C and NAFLD is as yet unclear. The aim of this study was to investigate the association of TG/HDL-C ratio with IR and NAFLD. Methods: The study population included 228 obese children and adolescents (59% girls, mean age: 12.52 +/- 2.94 years) and 46 lean subjects (57% girls, mean age: 12.53 +/- 3.30 years). The obese group was further stratified on the basis of NAFLD. Results: The TG/HDL-C ratio was higher in obese subjects compared with controls. The NAFLD group also had a significantly higher TG/HDL-C ratio (3.20 +/- 1.9 vs. 2.35 +/- 1.09) than the non-NAFLD group. The TG/HDL ratio was correlated with alanine aminotransferase, cholesterol, glucose-to-insulin ratio (FIGR), homeostasis model assessment of IR (HOMA-IR), quantitative insulin-sensitivity check index, and insulin. A cut-off value of 2.27 was used to define a high TG/HDL-C ratio. At multivariate logistic regression analysis, FIGR [odds ratio (OR)=4.20], HOMA-IR (OR=4.15), TG/HDL-C ratio (OR=2.8), HDL-C (OR=2.12), and ALT (OR=6.37) were associated with NAFLD. Conclusion: TG/HDL-C ratio is associated with various well-defined risk factors for NAFLD, and a value of >2.27 may be useful in identifying children at high risk for the condition.

There is increasing evidence for a direct relationship between the vascular system and non-alcoholic fatty liver disease (NAFLD). The aim of this study was to investigate endocan and adhesion molecules such as P-selectin derived from the endothelium and platelets in obese children and adolescents with NAFLD. One hundred obese patients and 40 lean controls were enrolled. The obese subjects were divided into two subgroups based on the presence or absence of fatty liver. Blood samples were assayed for endocan, P-selectin, platelet-derived growth factor (PDGF), intercellular cell adhesion molecule (ICAM)-1, and vascular cell adhesion molecule (VCAM)-1. Obese patients with NAFLD presented higher ALT and insulin levels, as well as more profound dyslipidemia when compared with their counterparts without NAFLD. Serum levels of high-sensitivity C-reactive protein, VCAM-1 and ICAM-1 were found increased in both obese groups, regardless of NAFLD. In obese subjects with NAFLD, decreased P-selectin levels (51.6 +/- 4.14ng/mL) were detected as compared with the obese (72.3 +/- 4.23) and control (74.2 +/- 6.97) subjects. Furthermore, circulating P-selectin levels were closely associated with endocan levels (r=0.852, p<0.001). Childhood obesity leads to vascular inflammation and therefore may cause a predisposition to atherosclerosis at an early age. The possible outcome of decreased P-selectin levels with NAFLD development must be further investigated.

Cases of Cushing's syndrome (CS) following ocular steroid use have been reported in recent years, albeit rarely.

Isolated aldosterone synthase deficiency may result in life-threatening saltwasting and failure to thrive. The condition involves hyperkalemia accompanying hyponatremia. Two types of aldosterone synthase deficiency may be observed depending on hormone levels: corticosterone methyl oxidase type 1 (CMO 1) and CMO 2. Herein, we describe a Turkish infant patient with aldosterone synthase deficiency who presented with failure to thrive and salt wasting but with normal potassium levels. Urinary steroid characteristics were compatible with CMO I deficiency. Diagnosis of aldosterone synthase deficiency was confirmed by mutational analysis of the CYP11B2 gene which identified the patient as homozygous for two mutations: c.788T> A (p. Ile263Asn) and c.1157T> C (p.Val386Ala). Family genetic study revealed that the mother was heterozygous for c. 788T> A and homozygous for c. 1157T> C and the father was heterozygous for both c.788T> A and c.1157T> C. To the best of our knowledge, this is only the second Turkish case with a confirmed molecular basis of type 1 aldosterone synthase deficiency. This case is also significant in showing that spot urinary steroid analysis can assist with the diagnosis and that hyperkalemia is not necessarily part of the disease.