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Background: Primary psoas abscess is a rare but potentially serious condition in children, often resulting from hematogenous spread of infection.
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...
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...
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.
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.
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.
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.
Background: Hypoxic-ischemic encephalopathy is a significant cause of permanent damage to brain cells and neurodevelopmental problems in infants.
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.
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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