Shaimaa Mohamed Mahmoud Sayed

Lecturer - Lecturer of paediatrics

Faculty of medicine

Address: paediatric department , Sohag Faculty of Medicine


Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature
Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is an autosomal recessive disorder characterized by impaired metabolism of ketones and isoleucine. In this study, we report on the first two siblings with T2 deficiency from Libya. Both siblings presented with ketoacidosis, but the severity and outcomes were quite distinctive. T2 deficiency in patient 1, the younger sister, manifested as recurrent severe episodes ... Read more

Evaluation of cardiac functions in children with Duchenne Muscular Dystrophy: A prospective case-control study
BACKGROUND Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy. The incidence of cardiomyopathy in DMD increases with age, so its early detection is important because institution of cardioprotective medical therapies may slow adverse remodeling and attenuate heart failure symptoms in these patients. Go to: Go to: OBJECTIVE To assess the cardiac functions in children clinically ... Read more

2016 | Keywords ECG, Cardiac, hemodialysis.,
Electrocardiographic changes in chronic hemodialysis children at Sohag university hospital.
Abstract: Background: Cardiovascular disease is the leading cause of mortality among patients on chronic hemodialysis (HD). 30% of the deaths in these patients are due to cardiac arrest, death of unknown cause or cardiac arrhythmia. The increasing time of ventricular depolarization and repolarization, measured by QT interval duration on the electrocardiogram (ECG) at rest, has emerged as a predictor of ... Read more

2016 | Keywords
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficienc
Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase (T2) deficiency) is an inherited disease of isoleucine catabolism and ketone body utilization caused by ACAT1 mutations. We identified ten Indian patients who manifested with ketoacidotic episodes of variable severity. The patients showed increased urinary excretion of isoleucine-catabolic intermediates: 2-methyl-3hydroxybutyrate, 2-methylacetoacetate, and tiglylglycine. Six patients had a favorable outcome, one died, and three developed neurodevelopmental ... Read more

2016 | Keywords Beta-ketothiolase deficiency, ,
Beta-Ketothiolase Deficiency: Resolving Challenges in Diagnosis
Abstract Beta-ketothiolase deficiency is an inherited disorder of ketone body metabolism and isoleucine catabolism. It typically manifests as recurrent ketoacidotic episodes with characteristic abnormalities in the urinary organic acid profile. However, several challenges in the diagnosis of beta-ketothiolase deficiency have been encountered: atypical presentations have been reported and some other disorders, such as succinyl-CoA:3-oxoacid CoA transferase and 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiencies, ... Read more