Results 211 to 220 of about 591,450 (353)

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Measurement of Regional Cerebral Blood Flow With ¹³³ Xenon and a Multiple-Crystal Scintillation Camera [PDF]

, 1974
Cannon Pj, Robert R. Sciacca, John C.M. Brust, Philip M. Johnson, S. K. Hilal   +4 more
openalex   +1 more source

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source

Clean Cut (adaptive, multimodal surgical infection prevention programme) for low‐resource settings: a prospective quality improvement study

BJS (British Journal of Surgery), EarlyView., 2020
Clean Cut is a multimodal, adaptive, checklist‐based infection prevention programme designed to improve compliance with six critical perioperative infection prevention practices. After introducing the programme at five hospitals in Ethiopia, compliance with critical infection prevention standards significantly improved and the relative risk of ...
J. A. Forrester, N. Starr, T. Negussie, D. Schaps, M. Adem, S. Alemu, D. Amenu, N. Gebeyehu, T. Habteyohannes, F. Jiru, A. Tesfaye, E. Wayessa, R. Chen, A. Trickey, S. Bitew, A. Bekele, T. G. Weiser   +16 more
wiley   +1 more source

Angiographic abnormalities associated with alterations in regional myocardial blood flow in coronary artery disease. [PDF]

, 1976
Jackie R. See, Peter F. Cohn, B. Leonard Holman, Barbara H. Roberts, Douglass F. Adams   +4 more
openalex   +1 more source

A Transcriptome‐Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey, Liam Gaziano, Preethi Eldi, Catherine Toben, Beben Benyamin, S. Hong Lee, Elina Hyppönen   +6 more
wiley   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Effects of anaesthesia, hypercarbia and hypocarbia on regional cerebral blood flow in the goat [PDF]

, 1977
Katherine S. L. Gil, David J. Miletich, Ronald F. Albrecht, David J. Visintine   +3 more
openalex   +1 more source

Influence of the arterial elastic component on the response to balloon angioplasty in femoral arteries of a healthy porcine model

Animal Models and Experimental Medicine, EarlyView.
This study evaluates the role of elastin in vascular response 28 days after balloon angioplasty using uncoated and paclitaxel‐coated balloons in a healthy porcine model. The results show higher elastin content in external femoral arteries, which is inversely correlated with vascular injury, inflammation, smooth muscle cell loss, proteoglycan and fibrin
María Gracia de Garnica García, Marina Gil Bernabé, Claudia Pérez‐Martínez, Laura Mola Solà, Luis Duocastella Codina, María Molina Crisol, Alex Gómez Castel, Armando Pérez de Prado   +7 more
wiley   +1 more source

Chroma-Memo-Flow Technique for Rapid Sequential Analysis of Regional Cerebral Blood Flow (rCBF) Responses [PDF]

, 1978
J. Overgaard
openalex   +1 more source