Association of C46T genetic polymorphism of coagulation factor XII with deep venous thrombosis: a cohort study on Egyptian patients

Deep vein thrombosis (DVT) is a common multi-factorial disease, with serious short- and long-term complications, and a potential fatal outcome. Many genes are involved in determining the interindividual variation in traits that define the onset and progression of disease, as well as the response to treatment. Several association studies have designed the relationship between factor XII C46T polymorphism and the risk of arterial and venous thrombosis. Some studies reported that FXII gene polymorphism is not associated with venous thrombosis, whereas other studies found an increased risk of venous thrombosis in carriers of a FXII-T variant. We constructed an age–gender–ethnic–matched case–control study including 52 DVT patients and 100 healthy volunteers. C46T polymorphism of the coagulation factor XII was carried out using allelic discrimination assay by real-time polymerase chain reaction for patients and controls, while plasma factor XII activity was detected by one-step clotting assay. FXII C46T genotyping in DVT patients revealed that 34.6% were heterozygous harboring the FXII-CT heterotype and 3.85% were homozygous; FXII-TT homotype, with no statistically significant difference in the distribution of the mutant genotypes between DVT patients and the control group. FXII activity was significantly reduced in DVT patients harboring the mutant genotypes. In the present study, FXII C46T gene polymorphism was not associated with increased risk of deep venous thrombosis.     

Pfeiffer syndrome: oral healthcare management and description of new dental findings in a craniosynostosis

Pfeiffer syndrome is a rare fibroblast growth factor receptor‐related craniosynostosis with variable clinical presentations. We describe new dental findings of hypodontia, microdontia, dilacerations, and radicular dentin dysplasia in a 19‐year‐old girl, and discuss the oral health management.     

Apparent mineralocorticoid excess (AME) syndrome

Apparent mineralocorticoid excess (AME) syndrome is a rare autosomal recessive disorder due to the deficiency of 11β hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). Mutations in this gene affect the enzymatic activity resulting to an excess of cortisol, which causes its inappropriate access to mineralocorticoid receptor leading to inherited hypertension. This is a potentially fatal but treatable disorder. We present clinical and molecular studies on two sisters diagnosed as AME.     

Medicines and disease information needs of older Arabic‐speaking Australians

Aim: To explore access, satisfaction, awareness and needs for medicines and disease information (MADI) sources for older Arabic‐speaking Australians. Method: Five focus groups were conducted (in Arabic) with 29 participants with a chronic disease, aged over 65 years, and unable to speak or read English fluently. Discussions were audiotape recorded, simultaneously interpreted into English, transcribed verbatim and content analysed. Results: Arabic‐speaking general practitioners were identified as the main source of MADI, despite dissatisfaction with their counselling. Written Arabic MADI was not accessed by participants, who revealed low English and Arabic literacy levels and a reliance on family members to act as interpreters. Male participants were more concerned and active about their health and medicine information than female participants. Conclusions: This study highlighted limited availability and access to Arabic MADI for older Arabic‐speaking Australians, with reliance on Arabic‐speaking health‐care professionals for information and family members as interpreters. An accessible and sustainable system for MADI is required.     

Comparative study of the insecticidal activity of a high green plant (Spinacia oleracea) and a chlorophytae algae (Ulva lactuca) extracts against Drosophila melanogaster fruit fly

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