• Volume: 2, Issue: 1

Feb 26, 2024

Three Siblings with Aarskog Scott Syndrome Together with Mental Retardation and Giant Megacolon

We found a new candidate disease-causing gene in 3 siblings who have Aarskog-Scott syndrome together with mental retardation and megacolon. Using exome analysis, ZFHX3, which has been reported to be associated with Hirschsprung disease, was identified as a candidate causative gene for their disease (mutations c.G756A:p.A2521T and c.G4428A:p.M1476I). In silico analysis suggested that A2521T was a functionally damaging mutation. Mice with a frame shift mutation in ZFHX3 were fetal lethal. Mice wi...

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• Volume: 1, Issue: 2

Dec 22, 2022

Correlation between New Parameters of Good Metabolic Control Obtained By a Blind Type of Continuous Glucose Monitoring Device and Laboratory Measured Glycated Hemoglobin A1c in Pediatric Patients on Multiple Daily Insulin Injection

Introduction: Through retroactive analysis and statistical processing of the data obtained in the original research conducted in 2016, we want to establish which of the modern parameters of good metabolic control: Time In Range (TIR), Coefficient of Variation (CV) and Area Under the Curve below limit of 3.9 mmol/L (AUC below limit) had the greatest influence on the decrease of HbA1c, and whether it is in accordance with modern diagnostic recommendations for the treatment of type 1 diabetes mell...

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Sep 21, 2022

Pyruvate Dehydrogenase Deficiency: Rare Mutation of the E1ß Subunit Gene

Pyruvate Dehydrogenase Complex (PDC) defects is a far-famed cause of metabolic disorders. Progressive neurological symptoms usually start in infancy, but may be evident at birth or in later childhood. They can induce delayed psychomotor development, brain malformations, hypotonia, seizures, ataxia, West or Leigh-like syndrome. PDC E1ß deficiency has been described in only seven patients.

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Jun 29, 2022

Predicting Biopterin Responsive Cases by Studying Phenylalanine Hydroxylase Mutations in Children Diagnosed with Phenylketonuria in Syria

Aim: Phenylketonuria occurs in patients with phenylalanine hydroxylase deficiency, and some mutations are responsive to Biopterin (BH4) therapy, which reduces the need for the use of hydrolysates and diet foods. This study describes the clinical and genetic features of 35 independent, authentic Syrian cases, in order to identify the dominant genotypes and predict response to BH4.

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• Volume: 1, Issue: 1

Apr 29, 2022

Zhu-Tokita-Takenouchi-Kim Syndrome: Clinical and Genetic Analysis of the First Tunisian Case Caused by De Novo Mutation C. 5753_5756 Del in the SON Gene

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare, severe autosomal dominant genetic disorder caused by heterozygous variants in the SON gene. This syndrome characterized by intellectual disability, brain malformation, facial dysmorphism, musculoskeletal abnormalities, and some visceral malformations. There are only 33 cases reported to date since the first report in 2015.

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Apr 14, 2022

Familial Mediterranean Fever Rare Cause of Cerebrovascular Accident

Familial Mediterranean Fever (FMF) is a hereditary auto inflammatory disease. Mutations of MEFV gene results in pyrin dysfunction, which causes uncontrolled interleukin-1 beta production and triggers the inflammatory attacks. Subclinical inflammation is still present even during attack-free periods in one-third of the FMF patients.

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Mar 18, 2022

Neurodevelopmental Status Evaluation following up Children Born with Term Intrapartum Asphyxia from 2 to 5 Years of Age

Background: Hypoxic-ischemic encephalopathy is a significant cause of permanent damage to brain cells and neurodevelopmental problems in infants.

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Mar 16, 2022

Risk Factors of Depression and Suicidal Behaviors among Adolescents

Objective: To demonstrate the risk factors of depression, suicidal ideation, suicidal attempt and suicide attempt that need hospitalization. Methods: Data were obtained from the Youth Risk Behavior Survey (2013). This survey was a population based, nationally representative, cross-sectional survey in adolescents aged 13 years to 24-year-old selected by using stratified multistage sampling.

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Oct 08, 2021

Do we need to Vaccinate Every Child Against COVID-19?

The world has been through the worst pandemic of last 100 years and COVID-19 have been a health emergency of the most significant impact that has put the whole world under siege. But the silver lining during these gloomy times have been the fast development of COVID-19 vaccines. Within a short span, the scientific the community rose to the occasion and developed vaccines against this raising pandemic, but the biggest concern now is equitable distribution and judicious use of the vaccines.

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