Results 21 to 30 of about 2,606 (136)

Metabolic abnormalities and reprogramming in cats with naturally occurring hypertrophic cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 1256-1270, April 2025.
Abstract Background and aims The heart is a metabolic organ rich in mitochondria. The failing heart reprograms to utilize different energy substrates, which increase its oxygen consumption. These adaptive changes contribute to increased oxidative stress.
Qinghong Li, Max Homilius, Erin Achilles, Laura K. Massey, Victoria Convey, Åsa Ohlsson, Ingrid Ljungvall, Jens Häggström, Brittany Vester Boler, Pascal Steiner, Sharlene Day, Calum A. MacRae, Mark A. Oyama   +12 more
wiley   +1 more source

Complaints Involving Sonographers: What Three Decades of Cases From A Public New Zealand Database Can Teach Us

Journal of Medical Radiation Sciences, EarlyView.
Health consumer complaints to the New Zealand Health and Disability Commissioner involving sonographers are rare, totalling 15 in the last 31 years and averaging 1.5 cases per year over the last decade. A large proportion of complaints involve an undetected finding, obstetric examination and private setting.
Martin Necas, Claire Calver, Alex Hill, Danielle Mourits, Sarah Park, Carla Smith   +5 more
wiley   +1 more source

Inherited epithelial transporter disorders—an overview [PDF]

, 2018
Summary: In the late 1990s, the identification of transporters and transporter-associated genes progressed substantially due to the development of new cloning approaches such as expression cloning and, subsequently, to the implementation of the human ...
Bergeron, M., Bürzle, M., Hediger, M., Simonin, A.   +3 more
core  

Updated ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease 2025

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives To revise the 2018 European Reference Network for rare Inherited and Congenital Digestive and Gastrointestinal Anomalies (ERNICA) clinical guideline for the management of rectosigmoid Hirschsprung's disease (HSCR) based on new evidence and evolving clinical priorities, ensuring continued relevance, trustworthiness, and consistency ...
Daniel Rossi, Willemijn Irvine, Anna Löf Granström, Annika Mutanen, Roel Bakx, Kristin Bjørnland, Duccio Cavalieri, Piotr Czauderna, Anne Dariel, Mark Ellebæk, Francesco Fascetti Leon, Fabio Fusaro, Dirk‐Jan Gloudemans, Marietta Jank, Peter Kolja Kvist, Martin Lacher, Annette Lemli, Lucas Matthyssens, Louise Montalva, Pedro Palazon, Alessio Pini Prato, Lucie Pos, Roxana Rassouli‐Kirchmeier, Konrad Reinshagen, Nagoud Schukfeh, Rony Sfeir, Olivia Spivack, Pernilla Stenström, Lovisa Telborn, Eelke Toxopeus, Alejandra Vilanova, Miriam Wilms, Rene Wijnen, Cornelius E. J. Sloots, Mikko Pakarinen, Tomas Wester   +35 more
wiley   +1 more source

Educational Attainment of Children With Major Congenital Anomalies During Primary School in England: A Population Cohort Study

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Major congenital anomalies (CA) affect 2.3% of livebirths and are associated with lower educational attainment. Understanding attainment trajectories throughout primary school would inform parents, schools and organisations and help plan support.
Joachim Tan, Ayana Cant, Kate Lewis, Vincent Nguyen, Laura Gimeno, Ania Zylbersztejn, Pia Hardelid, Joan Morris, Bianca De Stavola, Katie Harron, Ruth Gilbert, on behalf of the HOPE Study Team   +11 more
wiley   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

LABRAD : Vol 41, Issue 3 - December 2015 [PDF]

, 2015
Overview on Approach to Inherited Bleeding Disorders Diagnostic Approach to Haemoglobinopathies Transient Abnormal Myelopoiesis Urinary Tract Infections (UTI) in Children Role of Histopathology in the Diagnosis of Paediatric Renal Tumours Role of ...
Aga Khan University Hospital, Karachi
core   +1 more source

Syndromes associated with mitochondrial DNA depletion [PDF]

, 2014
This is an Open Access article distributed under the terms of the Creative Commons Attribution License.Mitochondrial dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial ...
Almeida, Ligia S., Nesti, C., Nogueira, Célia, Pezzini, I., Santorelli, F.M., Videira, A., Vilarinh, Laura   +6 more
core   +1 more source

Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models

Advanced Science, Volume 13, Issue 25, 4 May 2026.
Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka, Yuhei Higashi, Suguru Saito, Solmaz Pourgonabadi, Honami Honjoh, Sho Ishigaki, Peter C. Harris, Lisa M. Satlin, Michifumi Yamashita, Ryuji Morizane   +9 more
wiley   +1 more source

Management and investigation of neonatal encephalopathy: 2017 update. [PDF]

, 2017
This review discusses an approach to determining the cause of neonatal encephalopathy, as well as current evidence on resuscitation and subsequent management of hypoxic-ischaemic encephalopathy (HIE).
Hart, AR, Martinello, K, Mitra, S, Robertson, NJ, Yap, S   +4 more
core   +1 more source