27 research outputs found
Complex I Function and Supercomplex Formation Are Preserved in Liver Mitochondria Despite Progressive Complex III Deficiency
Peer reviewe
Population-based, first-tier genomic newborn screening in the maternity ward
The rapid development of therapies for severe and rare genetic conditions underlines the need to incorporate first-tier genetic testing into newborn screening (NBS) programs. A workflow was developed to screen newborns for 165 treatable pediatric disorders by deep sequencing of regions of interest in 405 genes. The prospective observational BabyDetect pilot project was launched in September 2022 in a maternity ward of a public hospital in the Liege area, Belgium. In this ongoing observational study, 4,260 families have been informed of the project, and 3,847 consented to participate. To date, 71 disease cases have been identified, 30 of which were not detected by conventional NBS. Glucose-6-phosphate dehydrogenase deficiency was the most frequent disorder detected, with 44 positive individuals. Of the remaining 27 cases, 17 were recessive disorders. We also identified one false-positive case in a newborn in whom two variants in the AGXT gene were identified, which were subsequently shown to be located on the maternal allele. Nine heterozygous variants were identified in genes associated with dominant conditions. Results from the BabyDetect project demonstrate the importance of integrating biochemical and genomic methods in NBS programs. Challenges must be addressed in variant interpretation within a presymptomatic population and in result reporting and diagnostic confirmation
A study of relationships in the extended family and their implications for treatment in twenty child guidance cases
This item was digitized by the Internet Archive. Thesis (M.S.)--Boston Universityhttps://archive.org/details/studyofrelations00dos
Report of the county commissioners of the county of Strafford, together with the reports of the superintendent of the county farm, chaplain, sheriff, physician, jailor, solicitor, treasurer, auditors, and clerk of the court, for the year ending December 31st, 1896.
This is an annual report containing vital statistics for a county in the state of New Hampshire
The genus Eucerceris: its morphology and biology, with a monograph of the genus (Hymenoptera:Sphecidae)
West Africa Magazine 2698, Saturday February 15th, 1969
Issue 2698 of West Africa Magazine(February 15, 1969) navigates Nigeria's war words, Sierra Leone's medical pioneer, and global Africa interests. Published in London/distributed in Apapa, it covers Wilson's Biafra flims, Olu Williams' surgery feats, and World Bank's Africa tour.
Key stories: “The Word and the War” notes Nigeria-Biafra media wars; “Portrait” spotlights Sierra Leone’s Dr. Olu Williams; World Bank’s McNamara tours farms (Commercial news). Elsewhere: Ghana/Guinea/Nkrumah plot (Dateline Africa), Sierra Leone’s economy stagnates, Ojukwu speaks (Dateline Africa). A charged mix – war, medicine, and diplomacy.■ The Word and the War: Accusations and counter-accusations between Federal MPs who have visited Nigeria and Biafra insults shouted at Mr. Harold Wilson by pro-Biafran demonstrators during his visit to West Germany
■ Portrait: Pioneer surgeon: Intending doctors who think that the profession of medicine is all glamour should take a look at the career of Mr. Olu Williams a pioneer of surgery in Sierra Leone
■ Commercial news: World bank, farms and Africa: Mr Robert Macnamara world bank president has been on his first tour of Africa south of the Sahara
■ Dateline Africa: Ghana: Conakry boys at Otu commission: Twelve east German jet fighters were sent to Guinea in the latter part of 1967 for an invasion of Ghana by Dr. Nkrumah
■ Dateline Africa: Sierra Leone: The soldiers legacy: There was little or no growth in the economy during the year says the annual report of the bank of Sierra Leone for 1967
■ Dateline Africa: Nigeria: Ojukwu's view of the war: To a joint meeting of the Biafran council of chiefs and elders and the Consultative assembly in Umuahia on Monda
