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  1. Issues post-stroke for Muslim people in maintaining the practice of salat (prayer): A qualitative study
    Mohamed CR, Nelson K, Wood P, Moss C
    Collegian, 2015;22(3):243-9.
    PMID: 26552194
    BACKGROUND: Muslims throughout the world perform salat (prayer) five times a day; salat involves a person reciting the Holy Qur'an while being in several positions. There are several steps that should be carried out before prayer, including wudhu (ablution) and covering one's awrah (body).

    OBJECTIVES: To identify educational needs for stroke patients and their caregivers in Malaysia. Another purpose is to report on the needs identified by stroke patients and their families related to salat.

    METHODS: Descriptive qualitative study. Phase 1 involved semi-structured interviews with stroke patients (n = 5), family caregivers (n = 5) and health professionals (n = 12) in Kelantan Malaysia. Phase 2 involved presenting the findings from Phase 1 to the health professionals with the aim of establishing priorities and processes to develop education strategies for stroke patients and their families.

    RESULTS: Preparing for and performing salat was challenging for both patient and family carers to do following a stroke. Themes identified were prayer and the meaning of the stroke events for participants, difficulties praying post-stroke, prayer as part of rehabilitation therapy.

    CONCLUSION: Providing culturally safe care should include how nurses assess and support patients and their caregivers post stroke to meet their prayer needs. Nurses have a role in discussing with stroke patients and their families how in addition to its spiritual and customary benefits, prayer and for Muslims reciting the Holy Qur'an can have cognitive and rehabilitation benefits, as well as being a source of psychological support for stroke patients.

  2. Fulltext Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
    Jain V, Foo SH, Chooi S, Moss C, Goodwin R, Berland S, et al.
    Eur J Hum Genet, 2023 Dec;31(12):1421-1429.
    PMID: 37704779 DOI: 10.1038/s41431-023-01447-0
    Börjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability syndrome caused by variants in the PHF6 gene. We ascertained 19 individuals from 15 families with likely pathogenic or pathogenic PHF6 variants (11 males and 8 females). One family had previously been reported. Six variants were novel. We analysed the clinical and genetic findings in our series and compared them with reported BFLS patients. Affected males had classic features of BFLS including intellectual disability, distinctive facies, large ears, gynaecomastia, hypogonadism and truncal obesity. Carrier female relatives of affected males were unaffected or had only mild symptoms. The phenotype of affected females with de novo variants overlapped with the males but included linear skin hyperpigmentation and a higher frequency of dental, retinal and cortical brain anomalies. Complications observed in our series included keloid scarring, digital fibromas, absent vaginal orifice, neuropathy, umbilical hernias, and talipes. Our analysis highlighted sex-specific differences in PHF6 variant types and locations. Affected males often have missense variants or small in-frame deletions while affected females tend to have truncating variants or large deletions/duplications. Missense variants were found in a minority of affected females and clustered in the highly constrained PHD2 domain of PHF6. We propose recommendations for the evaluation and management of BFLS patients. These results further delineate and extend the genetic and phenotypic spectrum of BFLS.
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