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Rita Alfattal Maryam Alfarhan Adeeb M. Algaith Buthaina Albash Reem M. Elshafie Asma Alshammari Ahmad Alahmad Fatima Dashti Rasha Alsafi Hind Alsharhan 《American journal of medical genetics. Part A》2023,191(5):1401-1411
Defects of respiratory chain complex III (CIII) result in characteristic but rare mitochondrial disorders associated with distinct neuroradiological findings. The underlying molecular defects affecting mitochondrial CIII assembly factors are few and yet to be identified. LYRM7 assembly factor is required for proper CIII assembly where it acts as a chaperone for the Rieske iron–sulfur (UQCRFS1) protein in the mitochondrial matrix and stabilizing it. We present here the seventeenth individual with LYRM7-associated mitochondrial leukoencephalopathy harboring a previously reported rare pathogenic homozygous LYRM 7 variant, c.2T>C, (p.Met1?). Like previously reported individuals, our 5-year-old male proband presented with recurrent metabolic and lactic acidosis, encephalopathy, and fatigue. Further, he has additional, previously unreported features, including an acute stroke like episode with bilateral central blindness and optic neuropathy, recurrent hyperglycemia and hypertension associated with metabolic crisis. However, he has no signs of psychomotor regression. He has been stable clinically with residual left-sided reduced visual acuity and amblyopia, and no more metabolic crises for 2-year-period while on the mitochondrial cocktail. Although the reported brain MRI findings in other affected individuals are homogenous, it is slightly different in our index, revealing evidence of bilateral almost symmetric multifocal periventricular T2 hyperintensities with hyperintensities of the optic nerves, optic chiasm, and corona radiata but with no cavitation or cystic changes. This report describes new clinical and radiological findings of LYRM7-associated disease. The report also summarizes the clinical and molecular data of previously reported individuals describing the full phenotypic spectrum. 相似文献
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Tamara Awwad Mahima Venkateswaran Marie Hella Lindberg Khadija Abu Khader Taghreed Hijaz Buthaina Ghanem Kjersti Mørkrid Asad Ramlawi Rand Salman J Frederik Frøen 《Lancet》2019
Background
In primary care maternal and child health clinics in occupied Palestinian territory, documentation and reporting consume considerable time for care providers. An electronic maternal and child health registry (MCH eRegistry), with point-of-care clinical decision support, is being implemented nationally in governmental clinics. We conducted a pilot study of time spent by care providers on important tasks, in preparation for a trial to compare eRegistry and non-eRegistry clinics.Methods
We conducted semi-structured interviews of ten nurse-midwives from six governmental clinics in the West Bank to map clinical workflows, and developed a data collection tool for time-motion observations. In May, 2017, observers recorded one workday in three eRegistry and three non-eRegistry clinics. For each consultation, we calculated the median time spent (in minutes) on each task, and then compared time spent in eRegistry and non-eRegistry clinics using Wilcoxon rank-sum tests. Ethics approvals were obtained from the Palestinian Health Research Council and Regional Ethics Committee, Norway. Informed consent was obtained from all pregnant women.Findings
Twelve antenatal consultations (four first booking visits, eight follow-up visits) were observed in eRegistry clinics and 39 (four first visits, 35 follow-up visits) in non-eRegistry clinics. The median duration of booking visits was 19·9 min (IQR 12·9) in eRegistry clinics and 22·1 min (24·9) in non-eRegistry clinics. In eRegistry clinics, the median duration of follow-up visits was 14·6 min (17·3), of which the median clinical examination time was 1·7 min (0·6) and median health information management time was 5·3 min (5·8). In non-eRegistry clinics, the median duration of follow-up visits was 8·8 min (8·7), of which the median clinical examination time was 2·5 min (2·9) and health information management time was 4·6 min (2·0). This pilot study was not sized for comparisons; health information management time was not statistically different between groups (p=0·1).Interpretation
Health information management constituted large parts of limited antenatal consultation time. The pilot provided data to estimate that the upcoming trial must include a sample of 24 clinics and 210 observations, with similar proportions of booking and follow-up consultations in both arms, to observe meaningful differences in time consumption with sufficient statistical power.Funding
European Research Council and Research Council of Norway. 相似文献6.
Buthaina E. Alathari Nathlia Teixeira Cruvinel Nara Rubia da Silva Mathurra Chandrabose Julie A. Lovegrove Maria A. Horst Karani S. Vimaleswaran 《Nutrients》2022,14(5)
Given the relationship between vitamin D deficiency (VDD) and adverse outcomes of metabolic diseases, we investigated the interplay of dietary and genetic components on vitamin D levels and metabolic traits in young adults from Brazil. Genetic analysis, dietary intake, and anthropometric and biochemical measurements were performed in 187 healthy young adults (19–24 years). Genetic risk scores (GRS) from six genetic variants associated with vitamin D (vitamin D-GRS) and 10 genetic variants associated with metabolic disease (metabolic-GRS) were constructed. High vitamin D-GRS showed a significant association with low 25(OH)D concentrations (p = 0.001) and high metabolic-GRS showed a significant association with high fasting insulin concentrations (p = 0.045). A significant interaction was found between vitamin D-GRS and total protein intake (g/day) (adjusted for non-animal protein) on 25(OH)D (pinteraction = 0.006), where individuals consuming a high protein diet (≥73 g/d) and carrying >4 risk alleles for VDD had significantly lower 25(OH)D (p = 0.002) compared to individuals carrying ≤4 risk alleles. Even though our study did not support a link between metabolic-GRS and vitamin D status, our study has demonstrated a novel interaction, where participants with high vitamin D-GRS and consuming ≥73 g of protein/day had significantly lower 25(OH)D levels. Further research is necessary to evaluate the role of animal protein consumption on VDD in Brazilians. 相似文献
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Makenzie Saoura Christopher A. Powell Robert Kopajtich Ahmad Alahmad Haya H. AL‐Balool Buthaina Albash Majid Alfadhel Charlotte L. Alston Enrico Bertini Penelope E. Bonnen Drago Bratkovic Rosalba Carrozzo Maria A. Donati Michela Di Nottia Daniele Ghezzi Amy Goldstein Eric Haan Rita Horvath Joanne Hughes Federica Invernizzi Eleonora Lamantea Benjamin Lucas Kyla‐Gaye Pinnock Maria Pujantell Shamima Rahman Pedro Rebelo‐Guiomar Saikat Santra Daniela Verrigni Robert McFarland Holger Prokisch Robert W. Taylor Louis Levinger Michal Minczuk 《Human mutation》2019,40(10):1731-1748
Mutations in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA metabolism, including ELAC2. The ELAC2 gene codes for the mitochondrial RNase Z, responsible for endonucleolytic cleavage of the 3′ ends of mitochondrial pre‐tRNAs. Here, we report the identification of 16 novel ELAC2 variants in individuals presenting with mitochondrial respiratory chain deficiency, hypertrophic cardiomyopathy (HCM), and lactic acidosis. We provide evidence for the pathogenicity of the novel missense variants by studying the RNase Z activity in an in vitro system. We also modeled the residues affected by a missense mutation in solved RNase Z structures, providing insight into enzyme structure and function. Finally, we show that primary fibroblasts from the affected individuals have elevated levels of unprocessed mitochondrial RNA precursors. Our study thus broadly confirms the correlation of ELAC2 variants with severe infantile‐onset forms of HCM and mitochondrial respiratory chain dysfunction. One rare missense variant associated with the occurrence of prostate cancer (p.Arg781His) impairs the mitochondrial RNase Z activity of ELAC2, suggesting a functional link between tumorigenesis and mitochondrial RNA metabolism 相似文献
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Franchi F Ibrahim B Rossi F Maspero ML Morabito O Asti D Bucciarelli P Biguzzi E 《Thrombosis research》2011,128(1):18-20