Results 341 to 350 of about 3,432,325 (391)

Addressing Anemia in High‐Altitude Populations: Global Impact, Prevalence, Challenges, and Potential Solutions

American Journal of Hematology, EarlyView.
Key challenges in diagnosing anemia in high‐altitude populations include variability in hemoglobin (Hb) concentration, associated pathological conditions, altitude‐induced plasma volume changes, and environmental factors such as contamination and nutrition.
Ayoub Boulares, Nicola Luigi Bragazzi, Gustavo F. Gonzales, Paul Robach, Benoit Champigneulle, Julien V. Brugniaux, Emeric Stauffer, Elie Nader, Stéphane Doutreleau, Philippe Connes, Samuel Verges, Aurélien Pichon   +11 more
wiley   +1 more source

De novo aneurysm formation on choroidal anastomosis during pregnancy in moyamoya disease: illustrative case. [PDF]

J Neurosurg Case Lessons
Yokochi Y, Chihara H, Funaki T, Komatsu M, Chigusa Y, Tatsumi K, Hattori EY, Arakawa Y.   +7 more
europepmc   +1 more source

Anti‐ADAMTS13 Antibodies Trajectory is Associated With ADAMTS13 Recovery in Immune‐Mediated TTP

American Journal of Hematology, EarlyView.
Anti‐ADAMTS13 IgG antibodies titer trajectory from baseline to day 7–14 post‐TPE as a reliable approach to identify iTTP patients at risk of late response to the triplet therapy regimen. ABSTRACT Current triplet regimens associating therapeutic plasma exchange (TPE), immunosuppression with corticosteroids and rituximab, and caplacizumab have ...
Marie Robert, Arthur Mageau, Ygal Benhamou, François Provôt, Jehane Fadlallah, Lionel Galicier, Elie Azoulay, Hafid Ait‐Oufella, Tomas Urbina, Pascale Poullin, Alain Wynckel, Coralie Poulain, Nihal Martis, Pierre Perez, Virginie Rieu, Yahsou Delmas, Jean‐Michel Halimi, Christelle Barbet, Amélie Seguin, Valérie Chatelet, Jean‐François Augusto, Mathieu Legendre, Olivier Moranne, Carole Philipponnet, Bérengère Cador, Raïda Bouzid, Bérangère S. Joly, Agnès Veyradier, Paul Coppo, on behalf of the French Reference Center for Thrombotic Microangiopathies   +29 more
wiley   +1 more source

Causal Relationship Between Sex Hormone Binding Globulin and Obstetrical Disorders: A Two-Sample Bidirectional Mendelian Randomization Study. [PDF]

Int J Womens Health
Gan Y, Tan X, Tang Y, Shi Q, Qi H.
europepmc   +1 more source

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source

Maternal red blood cell folate and vitamin B metabolism with pregnancy outcomes: a retrospective study. [PDF]

BMC Pregnancy Childbirth
Peng L, Gao Y, Yuan C, Kuang H.
europepmc   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Lifetime history of hypertensive disorders of pregnancy is associated with shorter sleep duration and more sleep disturbance in midlife: results from the Project Viva women's health cohort. [PDF]

Biol Sex Differ
Heydari K, Rifas-Shiman SL, Bertisch SM, Klerman EB, Chavarro JE, Oken E, Switkowski KM.   +6 more
europepmc   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

Impact of in-person versus online supervised multicentre multicomponent prenatal exercise programme on maternal physical activity, fitness and healthy lifestyle: the Active Pregnancy trial SPIRIT 2025-based protocol. [PDF]

BMJ Open Sport Exerc Med
Santos-Rocha R, Branco M, Prior de Freitas J, Castro B, Pinto AT, Silva-Santos S, Nogueira-Silva C, Oviedo-Caro MA, Szablewska A, Szumilewicz A.   +9 more
europepmc   +1 more source