SUMMARY: Background Mutation of the growth factor-independent 1B (GFI1B) fifth DNA-binding zinc-finger domain causes macrothrombocytopenia and α-granule deficiency leading to clinical bleeding. The phenotypes associated with GFI1B variants disrupting non-DNA-binding zinc-fingers remain uncharacterized. Objectives To determine the functional and phenotypic consequences of GFI1B variants disrupting non-DNA-binding zinc-finger domains. Methods The GFI1B C168F variant and a novel GFI1B c.2520 + 1_2520 + 8delGTGGGCAC splice variant were identified in four unrelated families. Phenotypic features, DNA-binding properties and transcriptional effects were determined and compared with those in individuals with a GFI1B H294 fs mutation of the fifth DNA-binding zinc-finger. Patient-specific induced pluripotent stem cell (iPSC)-derived megakaryocytes were generated to facilitate disease modeling. Results The DNA-binding GFI1B variant C168F, which is predicted to disrupt the first non-DNA-binding zinc-finger domain, is associated with macrothrombocytopenia without α-granule deficiency or bleeding symptoms. A GFI1B splice variant, c.2520 + 1_2520 + 8delGTGGGCAC, which generates a short GFI1B isoform that lacks non-DNA-binding zinc-fingers 1 and 2, is associated with increased platelet CD34 expression only, without quantitative or morphologic platelet abnormalities. GFI1B represses the CD34 promoter, and this repression is attenuated by different GFI1B zinc-finger mutations, suggesting that deregulation of CD34 expression occurs at a direct transcriptional level. Patient-specific iPSC-derived megakaryocytes phenocopy these observations. Conclusions Disruption of GFI1B non-DNA-binding zinc-finger 1 is associated with mild to moderate thrombocytopenia without α-granule deficiency or bleeding symptomatology, indicating that the site of GFI1B mutation has important phenotypic implications. Platelet CD34 expression appears to be a common feature of perturbed GFI1B function, and may have diagnostic utility.
METHODS: A cross-sectional study was conducted at the National Heart Institute of Malaysia involving 503 patients who were hospitalized during the year prior to the survey.
RESULTS: The mean annual out-of-pocket health spending for IHD was MYR3045 (at the time US$761). Almost 16% (79/503) suffered from catastrophic health spending (out-of-pocket health spending ≥40% of household non-food expenditures), 29.2% (147/503) were unable to pay for medical bills, 25.0% (126/503) withdrew savings to help meet living expenses, 16.5% (83/503) reduced their monthly food consumption, 12.5% (63/503) were unable to pay utility bills and 9.0% (45/503) borrowed money to help meet living expenses.
CONCLUSIONS: Overall, the economic impact of IHD on patients in Malaysia was considerable and the prospect of economic hardship likely to persist over the years due to the long-standing nature of IHD. The findings highlight the need to evaluate the present health financing system in Malaysia and to expand its safety net coverage for vulnerable patients.
METHODS: A qualitative method was employed. Focus groups and individual interviews were conducted with married men, community health officers, community health volunteers and community leaders. The participants were selected using purposive, quota and snowball sampling techniques. The study used thematic analysis for analysing the data.
RESULTS: The study shows varying involvement of men, some were directly involved in feminine gender roles; others used their female relatives and co-wives to perform the women's roles that did not have space for them. They were not necessarily indifferent towards maternal healthcare, rather, they were involved in the spaces provided by the traditional gender division of labour. Amongst other things, the perpetuation and reinforcement of traditional gender norms around pregnancy and childbirth influenced the nature and level of male involvement.
CONCLUSIONS: Sustenance of male involvement especially, husbands and CHVs is required at the household and community levels for positive maternal outcomes. Ghana Health Service, health professionals and policy makers should take traditional gender role expectations into consideration in the planning and implementation of maternal health promotion programmes.
MATERIALS AND METHODS: The present study included the assessment of all the patients who underwent prosthetic rehabilitation by dental implants. An experienced registered prosthodontist was given duty for examination of all the cases from the record file data. Prosthetic complications in the patients were identified using photographs, radiographs, and all other relevant data of the patients obtained from the record files. All types of complications and other factors were recorded separately and analyzed.
RESULTS: While correlating the prosthetic complications in OSA patients grouped based on number of dental implants, nonsignificant results were obtained. Significant correlation was observed while comparing the prosthetic complications divided based on type of prosthesis. Fracture of the porcelain was observed in four and eight cases respectively, of screwed and cemented dental implant cases.
CONCLUSION: Some amount of significant correlation existed between the incidences of prosthetic complications and OSA.
CLINICAL SIGNIFICANCE: Proper history of the patients undergoing dental implant procedures should be taken to avoid failure.