Background: Primary Congenital Glaucoma (PCG) is a critical disease that can lead to blindness if left untreated. It is considered the most common type among pediatric glaucoma cases. Mutations in CYP1B1 gene are the predominant cause for the disease in most cases especially in the Middle East and North Africa regions where high consanguinity rates are reported. Purpose: Reporting a new PCG case from Egypt harboring a novel variant in CYP1B1. Patients and Methods:The patient underwent a full clinical examination, reporting visible symptoms, and measuring both eyes' IOP and corneal diameter. Genetic testing of CYP1B1 was performed using Sanger sequencing. Results: The patient was found to carry compound heterozygous missense variants: c.1310C>G (p.P437R) and c.1320T>G (p.F440L). Of them, the c.1310C>G (p.P437R) was not reported before. Conclusions: We detected a new variant in CYP1B1 expanding the mutational spectrum of this rare disorder. Further, identifying an additional case with biallelic CYP1B1 variants strongly supports the critical role this gene possesses to PCG phenotype.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (creativecommons.org/licenses/by/3.0) Conflict of interest: None declared | Source of funding: Nil | DOI: http://dx. Abstract:Beta-blockers and calcium channel blockers over-dosage have similar presentation with hypotension and bradycardia, with considerable overlap in treatment and are often refractory to resuscitation measures. A 15 years old female, previously healthy, presented to hospital 3 hours after ingestion of calcium channel blocker, β-blocker and acetaminophen. The patient presented with abdominal pain, hypotension and sinus bradycardia after ingestion of 100 mg of amlodipine and 100 mg of nebivolol and 15 gm acetaminophen. Gastric lavage with activated charcoal was done in private hospital, but because of her hemodynamic instability she was transferred to our hospital. Fluid resuscitation failure and increasing requirement of vasopressors (nor-adrenaline) required her admission to intensive care unit. She was treated with N-acetyl cysteine in view of raised acetaminophen level, insulin infusion, glucose supplementation with continuous monitoring of potassium and blood glucose. After 48 hours patient was hemodynamic stable without vasopressor support and discharged.

The fat mass and obesity-associated (FTO) gene is recognized as the strongest predictor of obesity related traits such as insulin sensitivity and plasma glucose. The aim of this study was to investigate the association of the FTO rs17817449 genetic variant (G > T) polymorphism with risk of insulin resistance (IR) among Egyptian women. The variants in FTO rs17817449 were genotyped in 301 Egyptian women comprising two study groups, 150 women with IR and 151 healthy controls. The polymorphism of FTO rs17817449 was tested for association with IR. The frequencies of the FTO genotypes differed significantly between IR patients and healthy controls. Results revealed a significant association of TT genotype (OR, 2.33; 95% CI, 1.38–3.92; p = .001) and T-allele (OR, 1.55; 95% CI, 1.11–1.72; p .007) with IR. BMI, waist circumference, waist to hip and, body fat % were the highest in homozygotes TT genotype and the lowest in GG homozygotes in IR women but not observed in control subjects. Moreover, other abnormal metabolic risk parameters were significantly higher in TT carriers compared to GT and GG carriers in IR group. Association between FTO SNP (rs17817449) and IR was observed under recessive model.ConclusionThe present study suggests that FTO rs17817449 may have an important role in development of IR in Egyptian women.

Background Low-dose mercury exposure has been shown to be associated with adverse childhood health outcomes. Fish is the major source of mercury exposure in children. Our aim was to investigate the associations between estimated fish intake with total mercury (tHg), inorganic mercury (iHg), and methylmercury (MeHg). Methods Based on fish food frequency questionnaire (FFQ) data, subjects above the top and below the bottom quartiles of monthly fish intake frequency were contacted for recruitment. Subject hair tHg, iHg, MeHg levels were determined, and fish intake assessed by fish FFQ and 14-day food diary (FD). Associations between fish intake and hair mercury were analysed. Results 96 children were recruited and 38 of them completed the FD. Among these 96 children and those who have FD data, 55% and 50% were high fish consumers, respectively. The mean ratio of iHg: MeHg was 1:1.4. Comparisons between hair mercury levels and fish intake levels of high and low fish consumers are shown in Figure 1. Fish intakes calculated from both FFQs and FD were positively correlated with tHg, iHg and MeHg (all p < 0.05). However, in general, better correlations were found between FD data and hair mercury (Spearman's rho for tHg = 0.416; iHg = 0.352; MeHg = 0.448) than between FFQ and hair mercury (Spearman's rho for tHg = 0.308; iHg = 0.360; MeHg = 0.262). Conclusions Fish intake data obtained from both FFQs and FDs were positively associated with hair mercury levels. FDs performed better than FFQs. The high proportion of iHg: MeHg is unexpected and warrants further study. Objective Guiyu is the major electronic-waste (e-waste) recycling town in China. This study was to measure the effect of e-waste exposure on the synthesis of haemoglobin (Hb) in preschool children. Methods 222 children lived at Guiyu town and 204 children lived in a no e-waste polluted town were chosen to test their blood lead, Hb, ferritin, folate, vitamin B 12 levels and hemoglobinopathy, then fill the self-questionnaires by their parents. Results There were no significant differences in the levels of ferritin, folate, vitamin B 12 between exposure and control groups, and all children had been excluded thalassemia. The blood lead levels (BLLs) and rate of BLLs ≥ 10 ug/dL in exposure group were signifcantly higher than that in control group (all p < 0.01). Three groups were divided according to BLLs (Group A: <5.0 ug/dL, Group B: 5.0-9.9 ug/dL, Group C: ≥10.0 ug/dL). It can be seen that the levels of Hb were decreased along with elevated BLLs significantly in exposure group (F = 3.52, p = 0.03), however, not shown in control group (F = 1.98, p = 0.14). Furthermore, the prevalence rate of anaemia along with BLLs ≥10 ug/dL in exposure group was significant higher than that in control group (4.0% vs. 0.5%, p < 0.05), and the prevalence rate of anaemia without BLLs ≥10 ug/dL and iron deficiency in exposure group was significant higher than that in control group (6.5% vs. 2.0%, p < 0.05). PS-002 EFFECTS OF E-WASTE EXPOSURE ON THE SYNTHESIS OF HAEMOGLOBIN IN PRESCH...