Publications by authors named "L Bastaki"
Article Synopsis
- The study investigates Autosomal recessive polycystic kidney disease (ARPKD) in Kuwait, focusing on understanding its genetic diversity and clinical presentation to improve management strategies.
- A total of 60 individuals with suspected ARPKD were examined, revealing a significant mortality rate (33.3%) in newborns, while survivors exhibited a variety of health complications, including hypertension and enlarged cystic kidneys.
- The research identified 12 genetic mutations in over half of the cases, emphasizing the need for personalized diagnostic and treatment approaches for ARPKD.
Article Synopsis
- - Spinal muscular atrophy is a genetic condition that leads to muscle weakness and atrophy, and nusinersen is a therapy approved for its treatment in both children and adults.
- - A clinical case series involving 20 pediatric and 18 adult patients in Kuwait was conducted to evaluate the effectiveness and safety of nusinersen, using various motor function assessments.
- - Results showed that about 70% of pediatric and 72% of adult patients experienced significant improvements in motor function, with the therapy being well-tolerated over a period extending beyond four years.
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder that is caused by biallelic pathogenic SLC19A3 variants and is characterized by subacute encephalopathy associated with confusion, convulsions, dysphagia, dysarthria, or other neurological manifestations.
Methods: A retrospective review of the data registry in Kuwait Medical Genetics Center for all cases diagnosed clinically and radiographically and confirmed genetically with BTBGD.
Results: Twenty one cases from 13 different families were diagnosed with BTBGD in Kuwait.
Article Synopsis
- Very long-chain fatty acids (VLCFAs) are crucial for cell membrane formation in the brain, skin, and retina, with the ELOVL4 enzyme playing a key role in their elongation beyond 28 carbon atoms.
- The study involved clinical exome sequencing of individuals from four unrelated families with neuro-ichthyosis, leading to the discovery of three new ELOVL4 variants, including a significant exonic deletion found in two families from the same Saudi tribe.
- Findings indicated that most affected individuals experienced severe developmental issues and neurological symptoms, highlighting the genetic diversity related to ELOVL4 and suggesting the presence of a tribal founder mutation among the families studied.
Article Synopsis
- The study identifies biallelic loss-of-function variants in the SMPD4 gene as the cause of a severe neurodevelopmental disorder that leads to progressive microcephaly and early death, characterized by significant long-term complications like insulin-dependent diabetes.
- SMPD4 encodes a sphingomyelinase that plays a crucial role in maintaining lipid balance in cell membranes, particularly at the nuclear envelope, affecting cell proliferation and division.
- Research indicates that the lack of SMPD4 disrupts normal cell functions, leading to defective processes during cell division and impaired development of the brain and pancreatic beta cells, suggesting a direct link between SMPD4 deficiency and the observed clinical symptoms.