Results 71 to 80 of about 5,388 (203)

Risk of hypertensive disorders in pregnancies with non‐immune hydrops fetalis and single fetal effusions

Pregnancy, Volume 1, Issue 4, July 2025.
Abstract Introduction Hydrops fetalis carries high risks of morbidity and mortality for the fetus, as well as obstetric risks such as hypertensive disorders, or mirror syndrome, for the pregnant person. We aimed to characterize the prevalence and types of hypertensive disorders diagnosed in pregnancies with non‐immune hydrops fetalis and single ...
Natalie B. Gulrajani, Diana C. Robles, Juan M. Gonzalez, Mary E. Norton, Teresa N. Sparks   +4 more
wiley   +1 more source

Analysis of X chromosome inactivation in autism spectrum disorders. [PDF]

, 2008
International audienceAutism spectrum disorders (ASD) are complex genetic disorders more frequently observed in males. Skewed X chromosome inactivation (XCI) is observed in heterozygous females carrying gene mutations involved in several X-linked ...
Anckarsäter, Henrik, Bacchelli, Elena, Battaglia, Agatino, Betancur, Catalina, Blasi, Francesca, Botros, Hany Goubran, Bourgeron, Thomas, Carone, Simona, Chaste, Pauline, Delorme, Richard, Durand, Christelle M., Fauchereau, Fabien, Gillberg, Christopher, Gillberg, I. Carina, Gong, Xiaohong, Green, Jonathan, Jarvela, Irma, Lamb, Janine, Leboyer, Marion, Maestrini, Elena, Moreno-De-Luca, Daniel, Mouren-Simeoni, Marie Christine, Nummela, Ilona, Nygren, Gudrun, Rastam, Maria, Rossi, Mari, Toma, Claudio   +26 more
core   +4 more sources

X‐Linked Sideroblastic Anaemia Caused by Intronic ALAS2 Variant Resulting in Highly Variable Expressive Phenotype in Male Siblings, a Case Report

eJHaem, Volume 6, Issue 3, June 2025.
ABSTRACT X‐linked sideroblastic anaemia (XLSA) is a rare hereditary disorder caused by mutations in the ALAS2 gene, essential for haem biosynthesis. We report two male siblings, the first of whom developed severe microcytic hypochromic anaemia requiring regular transfusions, iron chelation and an allogeneic bone marrow transplant, while his brother ...
James O'Connor, Niall Mannion, Caoimhe McKenna, Kerrie Sweeney, Aaron Niblock   +4 more
wiley   +1 more source

Real‐world insights from a cohort of approximately 2000 individuals who were analysed using a freely available next‐generation sequencing anaemia screening programme

British Journal of Haematology, Volume 206, Issue 6, Page 1853-1856, June 2025.
Data from a large cohort of individuals referred for NGS testing evaluate the utility of next‐generation sequencing in clinical practice for diagnosing hereditary haemolytic anaemias.
Jorune Balciuniene, Saliha Yilmaz, Satheesh Chonat, Rachael F. Grace, Gerald A. Soff, Yaddanapudi Ravindranath, Bertil Glader, Paola Bianchi, Bryan McGee, Archana M. Agarwal, Geetha Puthenveetil   +10 more
wiley   +1 more source

An X‐Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene

Movement Disorders, Volume 40, Issue 4, Page 672-682, April 2025.
Abstract Objective Pathogenic variants in B‐cell receptor‐associated protein (BCAP31) are associated with X‐linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non‐progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes
Martin Paucar, Tianyi Li, Åsa Bergendal, Irina Savitcheva, Kaveh Pourhamidi, José M. Laffita‐Mesa, Ann Nordgren, Martin Engvall, Per Uhlén, Kristina Lagerstedt‐Robinson, Per Svenningsson   +10 more
wiley   +1 more source

Recognition, investigation and management of mitochondrial disease [PDF]

, 2017
Mitochondria are dynamic organelles present in virtually all human cells that are needed for a multitude of cellular functions, including energy production, control of cell apoptosis and numerous biochemical catabolic and synthetic pathways that are ...
Davison, JE, Rahman, S
core   +1 more source

Prospective Study to Assess Long‐Term Outcomes of Chelator‐Based Treatment With Trientine Dihydrochloride in Patients With Wilson Disease

JGH Open, Volume 9, Issue 3, March 2025.
ABSTRACT Background and Aims Wilson disease is an inherited disorder of copper metabolism affecting mainly the liver and brain. Trientine dihydrochloride (TETA‐2HCl) is approved for the treatment of Wilson disease in patients (≥ 5 years) intolerant to D‐penicillamine therapy.
Isabelle Mohr, Carlot Kruse, Verena Aliane, Karl Heinz Weiss   +3 more
wiley   +1 more source

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP [PDF]

, 2016
Background: Nonphotosensitive trichothiodystrophy (TTDN) is a rare autosomal recessive disorder of neuroectodermal origin. The condition is marked by hair abnormalities, intellectual impairment, nail dystrophies and susceptibility to infections but with ...
Biao Li, Deborah A. Nickerson, Izoduwa Abbe, Jay Shendure, Joshua D. Smith, Khadim Shah, Kwanghyuk Lee, Michael J. Bamshad, Muhammad Ansar, Muhammad Salman Chishti, null null, Paul J. Coucke, Raja Hussain Ali, Regie Lyn P. Santos-Cortez, Suzanne M. Leal, Wasim Ahmad, Wouter Steyaert   +16 more
core   +2 more sources

Case of Mitochondrial Encephalomyopathy secondary to COVID-19 in a Pediatric case of SIFD syndrome with a novel TRNT1 mutation

Clinical Immunology Communications
Syndrome of Congenital Sideroblastic Anemia, B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD) is caused by mutations in the tRNA nucleotidyltransferase 1 (TRNT1) gene.
Amer Khojah, Lauren Gunderman, Ameera Bukhari, Aisha Mirza, Madeline Schutt, Aisha Ahmed   +5 more
doaj   +1 more source

Chelation therapy in children

Медицинский совет, 2016
Iron overload (RV) is a condition caused by excessive intake of iron, and in the absence of the specific mechanisms for its excretion - excessive accumulation in tissues and their subsequent lesion leading to functional organ failure [1].
M. V. Krasolnikova
doaj   +1 more source