Results 111 to 120 of about 583,045 (296)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Introduction: Psychosocial Issues in Kidney Disease. [PDF]

Semin Nephrol, 2021
Cukor D.
europepmc   +1 more source

Functional and Psychiatric Correlates of Comorbid Post-Traumatic Stress Disorder and Alcohol Use Disorder. [PDF]

, 2018
Post-traumatic stress disorder (PTSD) and alcohol use disorder (AUD) are common comorbid conditions that affect large segments of the population. Individuals with comorbid PTSD/AUD face greater clinical and functional stressors than those with diagnoses ...
Haller, Moira, Lyons, Robert C, Norman, Sonya B, Straus, Elizabeth   +3 more
core  

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Psychosocial Issues ‌of Retirement in Iran: ‌A Qualitative Study

Sālmand, 2021
Objectives: Retirement is a potentially challenging event in old age that has different‏ effects on older people’s lives. This study aims to identify the psychosocial consequences, barriers, and facilitators of adaption to retirement in Iran.
Zohreh Alavi, Fardin Alipour, Hassan Rafiey   +2 more
doaj  

Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues. [PDF]

Afr J Disabil, 2022
Kromberg JGR, Kerr R.
europepmc   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 more
wiley   +1 more source

Psychosocial issues and concerns of cancer patients due to COVID-19 pandemic lockdown. [PDF]

PLOS Glob Public Health, 2022
Veeraiah S, Chidambaram S, Sudhakar R, Ganesharaja S, Krishnamurthy A, Dhanushkodi M, Swaminathan R.   +6 more
europepmc   +1 more source

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

ThE profile of anthRopometRy and psyChosocial issuEs on campus (TERRACE) study: A study protocol and preliminary results. [PDF]

Dialogues Health, 2022
Adebayo O, Kanmodi KK, Agbogidi JM, Oseghae OS, Williams A, Ibiyo MJ, Akinjopo SO, Ogunsuji O, Ojo OF, Mukoru IL, Ogunjimi L, Oyabambi AO.   +11 more
europepmc   +1 more source