Results 81 to 90 of about 54,540 (236)

First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri, Andrea Bordugo, Birute Burnyte, Alessandro Costetti, Maria‐Luz Couce, Luisa Diogo, Francois Feillet, D. Sean Froese, Benedetta Greco, Jean‐Louis Gueant, Luciana Hannibal, Friederike Hörster, Viktor Kožich, Giancarlo La Marca, Irini Manoli, Fanny Mochel, Lorenzo Orazi, Belén Pérez, Manuel Schiff, Bernd C. Schwahn, Ida Schwartz, Karolina M. Stepien, Jolanta Sykut‐Cegielska, Trine Tangeraas, Rolf H. Zetterström, Carlo Dionisi‐Vici, Martina Huemer   +26 more
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Delivery Systems for Therapeutic Genome Editing: Challenges, Innovations, and Future Perspectives

MedComm, Volume 7, Issue 7, July 2026.
Schematic illustration of four emerging CRISPR–Cas delivery platforms defined by distinct design principles and structural features: virus‐mimicking nanosystems (e.g., VLPs), cell‐derived extracellular vesicles, cell‐penetrating peptides, and stimuli‐responsive scaffolds. These platforms enable spatiotemporally controlled delivery of RNPs, mRNA, or DNA
Meijia Yang, Yiqiong Song, Ziyang Wang, Ke Chao, Lifeng Li, Xu Zhang, Xiaoran Duan, Chenglong Yu, Ruyue Xue, Jie Zhao   +9 more
wiley   +1 more source

Relapse of congenital thrombotic thrombocytopenic purpura, after spontaneous remission, in a second-trimester primigravida: case report and review of the literature

São Paulo Medical Journal, 2017
CONTEXT: Thrombotic microangiopathy syndrome or thrombotic thrombocytopenic purpura-hemolytic uremic syndrome (TTP-HUS) describes distinct diseases sharing common pathological features: microangiopathic hemolytic anemia and thrombocytopenia, without any
Donavan de Souza Lúcio, Jacqueline Foelkel Pignatari, Marcelo Gil Cliquet, Henri Augusto Korkes   +3 more
doaj   +1 more source

It's bean too long: Interventions to reintroduce legumes to the UK palate and plate

Annals of Applied Biology, Volume 189, Issue 1, July 2026.
Increased legume consumption can offer considerable health and sustainability benefits. Legume intake in the UK is low, and a number of barriers to intake have been identified. Adopting the Nuffield Council on Bioethics Intervention Ladder, we identify and review an array of interventions—with increasing levels of intervening—that could support ...
Neil Bernard Boyle, Beth Armstrong, Nicola J. Buckland, Laura Lane, Samantha J. Caton, Christian Reynolds, Christina Vogel, Louise Dye   +7 more
wiley   +1 more source

Thrombotic Antiphospholipid Syndrome: A Long Term Follow‐up of Patients With Recurrent Pregnancy Loss and Antiphospholipid Antibodies From the APS 1994 Study

American Journal of Reproductive Immunology, Volume 96, Issue 1, July 2026.
ABSTRACT Problem There is a paucity of studies on the incidence and predictors of thrombotic antiphospholipid syndrome (APS) after pregnancy in patients with recurrent pregnancy loss (RPL) and antiphospholipid antibodies (aPL). This prospective study aimed to assess the long‐term prognosis, including the occurrence of thrombosis and associated risk ...
Minami Ashio, Tamao Kitaori, Yoshitaka Yano, Chihiro Banno, Shoko Ide, Hiroyuki Yoshihara, Shinobu Goto, Takahiro Otani, Mayumi Sugiura‐Ogasawara   +8 more
wiley   +1 more source

Double Heterozygous Mutation with a Likely Pathogenic Variant and a VUS in SEC23B Gene: A Diagnostic Challenge for Congenital Dyserythropoietic Anemia in a Child – A Case Report

Indian Pediatrics Case Reports
Background: Congenital dyserythropoietic anemia (CDA) is a rare cause of inherited transfusion-dependent anemia. Here, we describe the diagnostic complexity, which was enhanced due to a superimposed parvovirus infection, compounded further by difficulty ...
Shashank Tiwari, Rajendra Singh Mahiya, Tanya Jain, Kanwaljeet Kaur Chopra   +3 more
doaj   +1 more source

Squeezing for Life – Properties of Red Blood Cell Deformability

Frontiers in Physiology, 2018
Deformability is an essential feature of blood cells (RBCs) that enables them to travel through even the smallest capillaries of the human body. Deformability is a function of (i) structural elements of cytoskeletal proteins, (ii) processes controlling ...
Rick Huisjes, Anna Bogdanova, Wouter W. van Solinge, Raymond M. Schiffelers, Lars Kaestner, Lars Kaestner, Richard van Wijk   +6 more
doaj   +1 more source

Clinical burden and healthcare resource use of congenital thrombotic thrombocytopenic purpura in England: A linked primary and secondary care data analysis

British Journal of Haematology, Volume 209, Issue 1, Page 248-256, July 2026.
Summary Congenital thrombotic thrombocytopenic purpura (cTTP) is an ultra rare haematological disorder. This study aimed to estimate the clinical burden, healthcare resource use (HCRU) and associated costs of cTTP in England using primary and secondary care data. A retrospective cohort study was undertaken using the Clinical Practice Research Datalink (
Erin Barker, Will Lester, Heather Riley, Monica Garrett, Amie Padhiar, Annie Berkley, Sudhakar Manne, Umesh Doobaree, Oliver Heard   +8 more
wiley   +1 more source

Diagnostic uncertainties in congenital syphilis: A case report

Clinical Case Reports
Key Clinical Message Congenital syphilis is a forgotten disease, and often misdiagnosed. It can present with a myriad of clinical features, mimicking various other conditions therefore posing difficulty in diagnosis.
Niharika Khanal, Srijana Basnet, Daman Raj Paudel, Vivek Karn, Sunita Tamang, Jasmine Shakya, Newton Ashish Shah   +6 more
doaj   +1 more source