A systematic review of alcohol consumption and disorders in relation to disasters.

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.

Renal Involvement in H Syndrome, A Rare Cause of Diabetes Mellitus: Case Report.

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.

Dissociation and psychopathology in Kenyan survivors of a terrorist bombing.

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.

Personality and Psychiatric Disorders among Employees of New York City Workplaces Affected by the 9/11 Attacks on the World Trade Center.

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.

A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient.

Üstyol A, Takahashi S, Hatipoglu HU, Duman MA, Elevli M, Selçuk Duru HN. A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient. Turk J Pediatr 2019; 61: 946-948. 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.

Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey

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.

P-selectin, endocan, and some adhesion molecules in obese children and adolescents with non-alcoholic fatty liver disease.

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 ± 4.14 ng/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.

Corticosterone Methyl Oxidase Deficiency Type 1 with Normokalemia in an Infant.

Isolated aldosterone synthase deficiency may result in life-threatening salt-wasting 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.

A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene.

A novel homozygous long-range deletion of the CYP17A1 gene abolished protein expression and caused the severest form of 17-hydroxylase deficiency in one kindred of a Turkish family. The affected subjects presented with 46,XY sex reversal and 46,XX lack of pubertal development as well as severe hypertension.

Vitamin D intoxication due to an erroneously manufactured dietary supplement in seven children.

Pediatric cases of vitamin D intoxication (VDI) with dietary supplements have not been previously reported. We report on 7 children with VDI caused by consumption of a fish oil supplement containing an excessively high dose of vitamin D due to a manufacturing error. Seven children aged between 0.7 and 4.2 years were admitted with symptoms of hypercalcemia. Initial median (range) serum concentrations of calcium and 25-hydroxyvitamin D were 16.5 (13.4-18.8) mg/dL and 620 (340-962) ng/mL, respectively. Repeated questioning of the parents revealed use of a fish oil that was produced recently by a local manufacturer. Analysis of the fish oil by gas chromatography/mass spectrometry revealed that the vitamin D3 content was ~4000 times the labeled concentration. Estimated daily amounts of vitamin D3 intake varied between 266,000 and 800,000 IU. Patients were successfully treated with intravenous hydration, furosemide, and pamidronate infusions. With treatment, serum calcium returned to the normal range within 3 days (range: 2-7 days). Serum 25-hydroxyvitamin D levels normalized within 2 to 3 months. Complications, including nephrocalcinosis, were not observed throughout the 1-year follow-up. In conclusion, errors in manufacturing of dietary supplements may be a cause of VDI in children. Physicians should be aware of this possibility in unexplained VDI cases and repeatedly question the families about dietary supplement use. To prevent the occurrence of such unintentional incidents, manufacturers must always monitor the levels of ingredients of their products and should be rigorously overseen by governmental regulatory agencies, as is done in the pharmaceutical industry.

Premature ovarian failure due to tetrasomy X in an adolescent girl.

UNLABELLED: Tetrasomy X associated with premature ovarian failure has been described in a few patients, and the parental origin of the extra X chromosomes has not been investigated so far in this group. A 15-year-old girl with mental retardation and minor physical anomalies showed secondary amenorrhea, high gonadotropin levels, and osteoporosis. Molecular analysis of the fibroblast cells revealed pure 48,XXXX constitution despite 48,XXXX/47,XXX mosaicism in peripheral blood. Analysis of the polymorphic markers (X22, DXYS218, DXYS267, HPRT) on the X chromosome by the quantitative fluorescent polymerase chain reaction (QF-PCR) method demonstrated that the extra X chromosomes were maternal in origin. CONCLUSION: Patients with tetrasomy X syndrome should be screened for ovarian insufficiency during early adolescence because hormone replacement therapy may be required for prevention of osteoporosis. In order to understand a potential impact of the parental origin of the extra X chromosomes on ovarian development and function, further studies are needed.

Complications of cardiac catheterization in pediatric patients: a single center experience.

We analyzed 519 catheterization procedures performed over a period of two years retrospectively. Several risk factors related to the patient or catheterization were analyzed. The incidence of complications was 6.2%. The most common major and minor complications were arterial thrombosis that required intervention and transient arrhythmias, respectively. The incidence of complications during interventional studies was higher (9.7%) when compared to that in diagnostic procedures (5.4%). The independent risk of any complication was greatest up to 1 year of age (p = 0.02). The risks of a major complication (p = 0.003) and development of arterial thrombosis (p = 0.02) were significantly greater in patients <1 year of age by univariate analysis. The risks of pediatric cardiac catheterization continue to decline. The complication rates associated with interventional catheterization were significantly higher than with diagnostic catheterization in this study. Younger age, particularly <1 year of age, is the strongest predictor of development of any complication.