Results 141 to 150 of about 158,698 (267)

Correlation Between Middle Cerebral Artery Peak Systolic Velocity and Neonatal Haemoglobin as a Marker of Fetal Anaemia. [PDF]

Cureus
Pukale RS, Alekhya MBS.
europepmc   +1 more source

Peripheral Blood Lymphocytosis Reflecting an Underlying Thymoma

American Journal of Hematology, EarlyView.
Léa Ousset, Alban Canali, Barbara J. Bain   +2 more
wiley   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Molecular surveillance of Plasmodium falciparum resistance to sulfadoxine-pyrimethamine among pregnant women attending antenatal clinics in Bobo-Dioulasso, Burkina Faso. [PDF]

Parasite
Cissé M, Soulama A, Silga EW, Gomgnimbou MK.   +3 more
europepmc   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Facilitators and barriers to implementing national iron and folic acid supplementation programmes for adolescents in India: a protocol for systematic review. [PDF]

BMJ Open
Shah R, Shinde S, Akagwu O, Juvekar S, Fawzi W, Ahankari A.   +5 more
europepmc   +1 more source

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

Recommendations for implementing patient blood management-an updated modified Delphi consensus from a multidisciplinary expert panel in Hong Kong. [PDF]

J Anesth Analg Crit Care
Cheng HK, Tse KC, Chan LK, Chan MT, Cheng BC, Choi CK, Chow YF, Lee CK, Leung WC, Leung TW, Sin SM, So RC, Wong SH.   +12 more
europepmc   +1 more source

A Multicenter, Open‐Label, Phase 2 Trial Comparing Crizanlizumab Combined With Standard Therapy to Standard Therapy Alone on Renal Function in Patients With Sickle Cell Nephropathy (STEADFAST)

American Journal of Hematology, EarlyView.
Kenneth I. Ataga, Pablo Bartolucci, Santosh L. Saraf, Vimal K. Derebail, Adlette Inati, Jeffrey D. Lebensburger, Laurie DeBonnett, Rodolfo D. Cancado, Claire C. Sharpe   +8 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source