Results 51 to 60 of about 696,217 (306)

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Health‐related quality of life following total minimally invasive, hybrid minimally invasive or open oesophagectomy: a population‐based cohort study

BJS (British Journal of Surgery), EarlyView., 2020
All patients operated for oesophageal cancer in Sweden from 2013 to April 2018 were identified, and 246 patients were recruited to this population‐based nationwide Swedish study. The results show that longitudinal health‐related quality of life after minimally invasive oesophagectomy was similar to that of the open surgical approach.
F. Klevebro, J. H. Kauppila, S. Markar, A. Johar, P. Lagergren   +4 more
wiley   +1 more source

To evaluate the effects of acupressure by sea band on nausea and Vomiting of pregnancy [PDF]

: Nausea and Vomiting are the most common disorders of digestive system in the pregnancy. This is a clinical intervention study. Main object was to evaluate the effects of acupressure in reducing the severity of nausea and vomiting in primigravida ...
خاوندی زاده اقدم, سیما, کاظم زاده, رأفت   +1 more
core  

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Episodic vestibular symptoms in children with a congenital cytomegalovirus infection [PDF]

, 2019
Objective: Congenital cytomegalovirus (cCMV) infection is the most common non-genetic cause of sensorineural hearing loss in children. Although cCMV-induced vestibular loss is demonstrated in several studies, the occurrence of vertigo has been described ...
Dhondt, Cleo, Dhooge, Ingeborg, Maes, Leen, Oostra, Anna   +3 more
core   +1 more source

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

The relationship between quality of life (EORTC QLQ-C30) and survival in patients with gastro-oesopohageal cancer [PDF]

, 2008
It remains unclear whether any aspect of quality of life has a role in predicting survival in an unselected cohort of patients with gastro-oesophageal cancer. Therefore the aim of the present study was to examine the relationship between quality of life (
AB Crumley, AB Crumley, BH von Rahden, D C McMillan, DP Kotler, FM Fang, I Chau, J R Anderson, JM Blazeby, JM Blazeby, JR Siewert, LH Sobin, M McKernan, N Ando, N MacDonald, NK Aaronson, NK Aaronson, P O'Gorman, R C Stuart, SA Hundahl, T Conroy, W Hofstetter, W J Angerson, WD Dewys   +23 more
core   +2 more sources

Understanding the Housing and Support Experience of People With Complex Disability in Australia: A Qualitative Analysis of Submissions to the Disability Royal Commission

Australian Journal of Social Issues, EarlyView.
ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz, Fiona Carey, Libby Witts, Jessie Spence, Peter Mulherin, Megan Topping, Di Winkler, Jacinta Douglas   +7 more
wiley   +1 more source

Nausea, Vomiting and Retching of Patients with Cervical Cancer Undergoing Chemotherapy in Bali, Indonesia [PDF]

, 2012
Background: Nausea, vomiting and retching (NVR) was the frequently reported and troublesome adverse effect for patients receiving chemotherapy. Purpose: This study is a part of a larger study which aims to describe the NVR symptom experience in cervical ...
Chongchareon, W. (Wimonrat), Petpichetchian, W. (Wongchan), Prapti, N. K. (Ni)   +2 more
core   +1 more source