Results 71 to 80 of about 1,723,878 (343)

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Hypospadias: clinical approach, surgical technique and long-term outcome

BMC Pediatrics, 2021
Background Hypospadias is one of the most common congenital abnormalities in male newborn. There is no universal approach to hypospadias surgical repair, with more than 300 corrective procedures described in current literature.
Pier Luca Ceccarelli, Laura Lucaccioni, Francesca Poluzzi, Anastasia Bianchini, Diego Biondini, Lorenzo Iughetti, Barbara Predieri   +6 more
doaj   +1 more source

Employment rates higher among rural mothers than urban mothers [PDF]

, 2007
As men\u27s jobs in traditional rural industries, such as agriculture, natural resource extraction, and manufacturing disappear due to restructuring of rural labor markets, the survival of the family increasingly depends on women\u27s waged labor.
Smith, Kristin
core   +1 more source

A retrospective analysis of variations in antenatal care initiation in an ethnically diverse maternal population in the UK with high levels of area deprivation [PDF]

, 2018
Background: Research has indicated differential utilisation of antenatal care among ethnic minority mothers in the UK.  However, links between ethnicity, area deprivation and the timing of antenatal care initiation remain poorly understood.
Li, Leah, Puthusserry, Thomas, Puthussery, Shuby, Tseng, Pei-Ching   +3 more
core   +1 more source

Moderators and Mediators of Pain and Function Outcomes in a New Service Delivery Model for Management of Knee Osteoarthritis in Primary Care: Secondary Exploratory Analysis of a Randomized Controlled Trial

Arthritis Care &Research, EarlyView.
Objective Our objective was to explore moderators and mediators influenced changes in pain and function in people with knee osteoarthritis (OA) receiving a new model of primary care service delivery (Optimizing Primary Care Management of Knee Osteoarthritis [PARTNER]), at 12 months (ACTRN: 12617001595303).
Abdolhay Farivar, Jocelyn L. Bowden, Kim L. Bennell, Andrew M. Briggs, Stephen J. Bunker, Rana S. Hinman, Thorlene Egerton, Simon D. French, Marie Pirotta, Karen Schuck, Venkatesha Venkatesha, Nicholas A. Zwar, David J. Hunter   +12 more
wiley   +1 more source

Hyperprolactinemia diagnostics – dilemmas over optimal selection of prolactinemia time points

Annals of Agricultural and Environmental Medicine, 2015
Introduction. Laboratory discrimination of pathologic hyperprolactinemia is an important step in the diagnosis of pathology influencing overall health and fertility.
Konrad Szosland, Magdalena Stasiak, Andrzej Lewiński   +2 more
doaj   +3 more sources

Incidental finding of cardiac hydatid cysts, report of two cases

BMC Medical Imaging, 2018
Background Hydatid is a parasitic infection which can affect any organ of body. In some organs like liver and lung; it can be found regularly while in other organs like heart, it is seen very rarely.
Dunya Moghul, Hidayatullah Hamidi
doaj   +1 more source

EIF2B2 gene mutation causing early onset vanishing white matter disease: a case report

Italian Journal of Pediatrics, 2022
Background Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive neurological disease. The physiopathology of disease is still little understood, but it seems to involve impairment in maturation of astrocytes; as a consequence ...
Ilaria Filareto, Giulia Cinelli, Ilaria Scalabrini, Elisa Caramaschi, Patrizia Bergonzini, Elisabetta Spezia, Alessandra Todeschini, Lorenzo Iughetti   +7 more
doaj   +1 more source

Disclosure of Maternal HIV Status to Children: To Tell or Not To Tell . . . That Is the Question [PDF]

, 2007
HIV-infected mothers face the challenging decision of whether to disclose their serostatus to their children. From the perspective of both mother and child, we explored the process of disclosure, providing descriptive information and examining the ...
A. Shaffer, B. J. Antle, B. Rime, B. W. C. Forsyth, C. Finkenauer, C. Finkenauer, C. Nostlinger, C. S. Edelbrock, D. A. Murphy, D. A. Murphy, D. A. Murphy, D. A. Murphy, D. A. Murphy, D. J. Pilowsky, D. Melvin, E. W. Schrimshaw, G. E. Wyatt, J. Faithfull, J. M. Simoni, J. Ware, K. E. Grant, K. J. Petrie, L. Armistead, L. Armistead, L. Armistead, L. Armistead, L. J. Bauman, L. Moneyham, L. S. Radloff, L. S. Wiener, M. J. Rotheram-Borus, M. L. Lee, M. Lipson, P. Lester, R. A. Ostrom, R. L. Sowell, R. N. Jamison, S. Dorsey, S. Esposito, S. F. Nagler, S. Harter, T. L. Tompkins, T. M. Achenbach, T. M. Achenbach, T. M. Achenbach, Tanya L. Tompkins, V. N. Niebuhr   +46 more
core   +3 more sources

Low‐Activation Compositionally Complex Alloys for Advanced Nuclear Applications—A Review

Advanced Engineering Materials, EarlyView.
Low‐activation compositionally complex alloys (LACCAs) are advanced metallic materials primarily composed of low‐activation elements, offering advantages such as rapid compliance with operational standards and safe recyclability. This review highlights their potential for extreme high‐temperature irradiation environments as structural materials for ...
Yangfan Wang, Hanliang Zhu, Zhiyang Wang, Zhijun Qiu, Xiao Wang, Zengxi Pan, Hongtao Zhu, Mingxing Zhang, Huijun Li   +8 more
wiley   +1 more source