Results 131 to 140 of about 522,906 (331)

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

Placenta location, a prognostic determinant for the incidence of preeclampsia

BMC Pregnancy and Childbirth
Background Preeclampsia is one of the complications of pregnancy with uncertain etiology. Nevertheless, it is believed that the condition may arise due to abnormal trophoblastic invasion, resulting in vascular remodeling and increased resistance in the ...
Fariba Alikhani, Marzieh Aalinezhad, Mahshid Bahrami, Mahsa Geravandi   +3 more
doaj   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Supporting safe motherhood : a review of financial trends : summary [PDF]

An estimated 500,000 women, 99 percent of them from the developing world, die each year from pregnancy-related causes. About three quarters of these deaths are the direct result of obstetrical complications -- hemorrhage, infection, toxemia, obstructed ...
Howard, L. M.
core  

Gestational Diabetes Mellitus (GDM) : excellent control or non-disease [PDF]

, 1993
The National Diabetes Data Group makes the case for universal screening of the obstetrical population. The American College of Obstetrics and Gynaecology (ACOG), falls short of recommending universal screening, and suggests instead that screening should ...
Xuereb, Dennis
core  

Two Unusual Complications of Umbilical Hernia in Pregnancy [PDF]

, 1962
S. W. Thomson
openalex   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Autoimmune diseases and adverse pregnancy outcomes: an umbrella review

BMC Medicine
Background There is a high prevalence of autoimmune conditions in women specially in the reproductive years; thus, the association with adverse pregnancy outcomes has been widely studied.
Megha Singh, Steven Wambua, Siang Ing Lee, Kelvin Okoth, Zhaonan Wang, Fathima Fazla Ahamed Fayaz, Kelly-Ann Eastwood, Catherine Nelson-Piercy, John A. Reynolds, Krishnarajah Nirantharakumar, Francesca Crowe, on behalf of MuM-PreDiCT   +11 more
doaj   +1 more source

Multiple Genomic Technologies Validate Rare Novel Variant and Direct Medical Care in Vascular Anomalies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some vascular anomalies, such as hamartomas associated with PTEN hamartoma tumor syndrome (PHTS) and fibroadipose vascular anomaly (FAVA, often due to PI3KCA variants), share similar clinical, radiological, and histopathological presentations that challenge clinicians to provide an accurate diagnosis.
Luciana Daniela Garlisi Torales, Kristina Woodis, Allison Britt, Lea F. Surrey, Abhay Srinivasan, Arupa Ganguly, Maria Limmina, Dong Li, Suzanne P. MacFarland, Denise M. Adams, Sarah E. Sheppard   +10 more
wiley   +1 more source