Aisha Al Sinani
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View article: Hyperthyroidism Presenting as Jaundice in a Child
Hyperthyroidism Presenting as Jaundice in a Child Open
Hyperthyroidism-related liver disease is an uncommon cause of jaundice in children. There is scarce data on its clinical and histological features and management. We report the case of a five-year-old girl with thyrotoxicosis associated wi…
View article: Hyperthyroidism Presenting as Jaundice in a Child
Hyperthyroidism Presenting as Jaundice in a Child Open
Hyperthyroidism-related liver disease is an uncommon cause of jaundice in children. There is scarce data on its clinical and histological features and management. We report the case of a five-year-old girl with thyrotoxicosis associated wi…
View article: Arabic Automatic Speech Recognition: A Systematic Literature Review
Arabic Automatic Speech Recognition: A Systematic Literature Review Open
Automatic Speech Recognition (ASR), also known as Speech-To-Text (STT) or computer speech recognition, has been an active field of research recently. This study aims to chart this field by performing a Systematic Literature Review (SLR) to…
View article: A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population
A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population Open
Context Pseudohypoaldosteronism (PHA) is a condition in which serum aldosterone level is normal or elevated but its action is deficient. Objective This study describes the molecular genetics of PHA 1b in the highly consanguineous populatio…
View article: Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia
Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia Open
Genetic mutations causing familial hypomagnesaemia syndromes are well-recognised. Affected patients can present with severe symptoms of hypomagnesaemia, such as seizures or cardiac arrhythmia. We report an affected child, from a consanguin…
View article: Agammaglobulinaemia despite terminal B‐cell differentiation in a patient with a novel <i>LRBA</i> mutation
Agammaglobulinaemia despite terminal B‐cell differentiation in a patient with a novel <i>LRBA</i> mutation Open
Mutations in lipopolysaccharide‐responsive vesicle trafficking, beach and anchor‐containing protein (LRBA) cause immune deficiency and inflammation. Here, we are reporting a novel homozygous mutation in LRBA allele in 7‐year‐old Omani boy,…