Results 171 to 180 of about 122,545 (272)

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

Leading across boundaries: establishment of the UCLH community outreach intrathecal baclofen refill service. [PDF]

BMJ Open Qual
Keenan E, Ang K, Lee H, Betteridge N, Chal D, O'Connell R, Buchanan K, Stevenson V.   +7 more
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Food Allergy Diagnosis in Early Childhood: Journey Mapping Study With Parents and Pediatricians. [PDF]

Clin Transl Allergy
Hörold M, Rohr M, Apfelbacher C, Brandstetter S.   +3 more
europepmc   +1 more source

Building Community Amidst the Institutional Whiteness of Graduate Study: Black Joy and Maroon Moves in an Academic Marronage

Australian Journal of Social Issues, EarlyView.
ABSTRACT This article reflects on the construction of a supportive community of Black Afro‐diasporic graduate students and their supervisors researching issues relating to race in the field of education in Australia. It draws on the concept of marronage—a term rooted in the fugitive act of becoming a maroon, where enslaved people enacted an escape in ...
Hellen Magoi, Casianus Gemoh, Denise Chapman, Edmund Hypolite, Simon Angok, Melanie Baak, Joel Windle   +6 more
wiley   +1 more source

Understanding nutrition challenges and information needs of women undergoing cytoreductive surgery for ovarian cancer: a study protocol for an experience-based co-design methodology. [PDF]

Support Care Cancer
Cherry K, Quigley E, Koh C, Scully A, Farrell R, Young A, Allman-Farinelli M, Carey S.   +7 more
europepmc   +1 more source

‘The System Can't Cope’: The Service System Response to Alcohol and Other Drug‐Facilitated Sexual Violence

Australian Journal of Social Issues, EarlyView.
ABSTRACT Alcohol and other drug‐facilitated sexual violence can have significant impacts on victim‐survivors, yet little is known about what support service providers offer them. To understand the experiences and perceptions of service providers, interviews with counsellors, health workers, forensic toxicologists and harm reduction workers were ...
Jessica Ison, Jacqui Theobald, Kirsty Forsdike, Ingrid Wilson, Elena Wilson, Leesa Hooker   +5 more
wiley   +1 more source

Co-Designing a Primary Healthcare Intervention to Improve Diabetes Care in Mendoza, Argentina: A Qualitative Case Study. [PDF]

Health Expect
Roberti J, Mazzoni A, Guglielmino M, Silva C, Mazzaresi Y, Falaschi A, Hirschhorn LR, Parker JJ, García-Elorrio E.   +8 more
europepmc   +1 more source

A preclinical mouse model mimicking the ovarian cancer‐induced estrogen deficiency‐depression axis

Animal Models and Experimental Medicine, EarlyView.
A preclinical mouse model of ovarian cancer–related depression was developed by combining intraperitoneal tumor cell injection, ovariectomy, and chronic restraint stress. The model replicates key clinical features including estrogen deficiency, depressive‐like behaviors, and tumor progression, and provides a reliable tool for studying the endocrine ...
Jiamin Liu, Yafei Yang, Chunxi Liu, Danting Wen, Tingyu Zhao, Ping Xie, Jing Xiao   +6 more
wiley   +1 more source