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Biomedical subjects

S Hasham

Publications and source records attributed to S Hasham.

6 recordsLinked to original sources
PubMed2005

Schwannomatosis: multiple schwannomas of the upper limb.

Schwannomas (also known as neurilemmomas) are neoplasms of the peripheral nerve sheaths. They are the most common benign tumour of peripheral nerves, yet they account for only 5% of all soft tissue tumours. Their incidence in the upper limb is variable, as is their clinical presentation. We present an unusual case of multiple schwannomas in the upper limb so that other surgeons can share our experience and suggest the correct diagnosis when confronted with a similar case.

Adult↗
PubMed2004

Hot-air ballooning injuries in the United Kingdom (January 1976-January 2004).

OBJECTIVES: Injuries due to hot-air ballooning accidents are uncommon but may be severe. In this study we examined the factors contributing to ballooning accidents in the UK and the type of injuries sustained. METHODS: The post-investigation reports of ballooning accidents from 1976 to 2004 were reviewed. They were analysed to determine type and severity of injuries, phase of flight at time of accident and causative or contributory factors. RESULTS: Sixty-one people were seriously injured in 98 ballooning accidents, with 2 fatalities. The majority of these accidents occurred during the approach and landing phase of flight. Ground collisions and crashes with power lines accounted for the majority of accidents. Adverse weather conditions were present in a significant number of crashes. Equipment failure was an uncommon cause of accidents. Fractures and burns were the most common form of injuries sustained. CONCLUSIONS: Changes in design and materials used, as well as adherence to specific recommended safety protocols, may aid to decrease the risk of severe burns in ballooning accidents. We discuss these factors illustrated by our experience of the worst recorded ballooning accident in Britain.

Accidents, Aviation↗
PubMed2001

Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14.

BACKGROUND: Aneurysms and dissections affecting the ascending aorta are associated primarily with degeneration of the aortic media, called medial necrosis. Families identified with dominant inheritance of thoracic aortic aneurysms and dissections (TAA/dissections) indicate that single gene mutations can cause medial necrosis in the absence of an associated syndrome. METHODS AND RESULTS: Fifteen families were identified with multiple members with TAAs/dissections. DNA from affected members from 2 of the families was used for a genome-wide search for the location of the defective gene by use of random polymorphic markers. The data were analyzed by the affected-pedigree-member method of linkage analysis. This analysis revealed 3 chromosomal loci with multiple markers demonstrating evidence of linkage to the phenotype. Linkage analysis using further markers in these regions and DNA from 15 families confirmed linkage of some of the families to 5q13-14. Genetic heterogeneity for the condition was confirmed by a heterogeneity test. Data from 9 families with the highest conditional probability of being linked to 5q were used to calculate the pairwise and multipoint logarithm of the odds (LOD) scores, with a maximum LOD of 4.74, with no recombination being obtained for the marker D5S2029. In 6 families, the phenotype was not linked to the 5q locus. CONCLUSIONS: A major locus for familial TAAs and dissections maps to 5q13-14, with the majority (9 of 15) of the families identified demonstrating evidence of linkage to this locus. The condition is genetically heterogeneous, with 6 families not demonstrating evidence of linkage to any loci previously associated with aneurysm formation.

Aortic Dissection↗
PubMed2001

Characterization of a novel autosomal dominant bleeding disorder in a large kindred from east Texas.

A large east Texas family with autosomal dominant inheritance of a novel bleeding disorder has been identified. The disorder is characterized clinically by easy bruising, life-threatening bleeding with trauma or surgery, and menorrhagia in affected women. Laboratory studies demonstrated prolongation of the prothrombin time and activated partial thromboplastin time in affected individuals. Paradoxically, assays of known coagulation factors are all within normal limits. To determine the molecular basis of this disease, a candidate gene linkage analysis in this kindred was done. Initially it was hypothesized that the cause of the disease in this family could be an antithrombin III (AT3) mutation that resulted in a constitutively active AT3 in the absence of heparin binding. Linkage studies using DNA from the family and an intragenic polymorphic marker within the AT3 gene showed that the disease mapped to this locus. The coding region and intron/exon junctions of AT3 were sequenced using the proband's DNA, but this analysis failed to identify a mutation. Additional family members were recruited for the study, and 16 polymorphic markers around the AT3 gene were analyzed. Using 2 recombinants, the critical interval for the defective gene was narrowed to approximately 1.5 Mb, centromeric to AT3. The factor V (FV) gene was mapped into the disease interval and sequenced; there were no mutations found. Elucidation of the genetic defect causing the bleeding disorder in this family may reveal a novel protein involved in the coagulation cascade.

Adult↗