Results 191 to 200 of about 1,366,924 (271)

Carrying a crisis: The risk of a painful sickle cell crisis during pregnancy

British Journal of Haematology, EarlyView.
Commentary on: Auger et al. Sickle cell anaemia with and without crises: An observational study of pregnancy outcomes. Br J Haematol 2026 (Online ahead of print). doi: 10.1111/bjh.70837.
Bart J. Biemond
wiley   +1 more source

Expression of pro-thrombotic markers in placentas from complicated and uneventful pregnancies [PDF]

, 2008
Maruotti, Giuseppe Maria
core   +1 more source

Sickle cell anaemia with and without crises: An observational study of pregnancy outcomes

British Journal of Haematology, EarlyView.
Summary We assessed the pregnancy outcomes of patients with sickle cell crises. We carried out a retrospective study of 2 698 556 pregnancies in Quebec, Canada between 1989 and 2022. The primary exposure was sickle cell anaemia with crisis during or outside of pregnancy. Outcomes included severe maternal morbidity and other pregnancy complications.
Nathalie Auger, Émilia Mailhot‐Diaferia, Gabriel Côté‐Corriveau, Gilles Paradis, Antoine Lewin, Aimina Ayoub, Anne‐Marie Parrot, Ashley Park, Brian Potter   +8 more
wiley   +1 more source

Ethics and equity in access to disease‐modifying therapies and newborn screening for spinal muscular atrophy: A scoping review

Developmental Medicine &Child Neurology, EarlyView.
Outcomes of children with cerebral palsy receiving long‐term respiratory support. Aim To review barriers to ethical and equitable access to disease‐modifying therapies (DMTs) and newborn screening (NBS) for spinal muscular atrophy (SMA). Method We searched PubMed, Scopus, Web of Science, EBSCOhost, the Cochrane Library, Google Scholar, and Primo for ...
Serini Murugasen, Mariana Kruger, Marc Blockman, Jo M. Wilmshurst   +3 more
wiley   +1 more source

Perinatal complications, mode of delivery, and neurological morbidity in children with COL4A1/A2 variants

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To characterize reported perinatal complications and childhood neurological diagnoses among children with COL4A1/2 variants and explore associations between mode of delivery and selected neurological outcomes. Method This was a retrospective cross‐sectional patient registry study using surveys collected through the Gould Syndrome ...
Shraddha Pandey, Dawn Gano, Danielle Boyce, Rachel Vassar   +3 more
wiley   +1 more source

Multisystem developmental abnormalities and insulin resistance in ADTKD‐HNF1B with the p.E105K variant: A clinical conundrum

Diabetic Medicine, EarlyView.
Abstract Aims HNF1B variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD‐HNF1B), but the phenotypic spectrum of variants of uncertain significance (VUS) remains incompletely defined. We aimed to characterise the multisystem phenotype associated with the HNF1B p.E105K variant and to examine the mechanism underlying insulin ...
YunZe Wang, KangChun Xu, PengFei Liu, Bin Wang, Yan Yang, ShanZhai Wei   +5 more
wiley   +1 more source

Bringing Gene Therapy Into Real World Clinical Practice

Haemophilia, EarlyView.
ABSTRACT Introduction Adeno‐associated virus (AAV)‐based gene therapy for haemophilia has shifted therapeutic paradigms by enabling hepatic gene transfer, restoring endogenous clotting factor expression, and reducing reliance on conventional prophylactic treatments. Two products, valoctocogene roxaparvovec (haemophilia A) and etranacogene dezaparvovec (
Wolfgang Miesbach, Pratima Chowdary, Margareth C. Ozelo   +2 more
wiley   +1 more source

Fertility preservation and subsequent reproductive outcomes in female pediatric patients with hematologic malignancies. [PDF]

Front Endocrinol (Lausanne)
Salvagno F, Evangelisti B, Agù M, Aprile R, Canosa S, Paschero C, Silvestris E, Corrado G, Gennarelli G, Revelli A.   +9 more
europepmc   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

Disseminated intravascular coagulation in pregnancy: insights from an international collaborative registry. [PDF]

J Thromb Haemost
Federspiel JJ, Berkowitz C, Lim G.
europepmc   +1 more source