Results 151 to 160 of about 20,779 (267)

Examining the role of social workers within clinical metabolic genetics care. [PDF]

Mol Genet Metab Rep
Shim S, Cory D, Wixson G, Hata A, Werner-Lin A.   +4 more
europepmc   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

TFRC Germline Variants and Inborn Error of Immunity: Mechanistic Insights into Iron-Immune Crosstalk. [PDF]

J Clin Immunol
Aljohani AH.
europepmc   +1 more source

Maternal glycaemia and child educational attainment at age 5 in the Born in Bradford cohort

Diabetic Medicine, EarlyView.
Abstract Aims There is emerging evidence that maternal hyperglycaemia may be associated with adverse offspring neuro‐behavioural outcomes, which are foundational to educational success. We hypothesised that higher levels of maternal glucose would be associated with poorer educational attainment in early childhood.
Claire A. Wilson, Gillian Santorelli, Emily Simonoff, Louise M. Howard, Khalida Ismail, Rebecca M. Reynolds   +5 more
wiley   +1 more source

Autoimmunity and inborn errors of immunity: a complex coexistence. [PDF]

Front Immunol
Elamine A, Benhsaien I, Ailal F, Hbibi M, Fahi M, Bousfiha AA, El Bakkouri J.   +6 more
europepmc   +1 more source

Contrasting Approaches in the Implementation of GRADE Methodology in Guidelines for Haemophilia and Von Willebrand Disease

Haemophilia, EarlyView.
ABSTRACT Introduction The 2024 ISTH clinical practice guideline (CPG) for treatment of congenital haemophilia, the NBDF‐McMaster Guideline on Care Models for Haemophilia Management, and ASH ISTH NBDF WFH guidelines on the diagnosis and management of VWD all utilised GRADE methodology.
Mark W. Skinner, Manuela Albisetti, Jesús Ardila, Jan Astermark, Jan Blatny, Manuel Carcao, Pratima Chowdary, Nathan T. Connell, Miguel Crato, Yesim Dargaud, Roseline d'Oiron, Amy L. Dunn, Miguel A. Escobar, Carmen Escuriola‐Ettingshausen, Emna Gouider, Annie Harroche, Cedric Hermans, Victor Jimenez‐Yuste, Radoslaw Kaczmarek, Gili Kenet, Liane Khoo, Robert Klamroth, Florian Langer, David Lillicrap, Johnny Mahlangu, Christoph Male, Tadashi Matsushita, Sandrine Meunier, Wolfgang Miesbach, Beatrice Nolan, Johannes Oldenburg, Brian O'Mahony, Margareth Ozelo, Glenn F. Pierce, Gloria Ramos, Michael Recht, Olivia Romero‐Lux, Dawn Rotellini, Rita C. Santoro, Tammuella C. Singleton, Alok Srivastava, Sophie Susen, Kate Talks, Huyen Tran, Leonard A. Valentino, Jerzy Windyga, Renchi Yang, Maria Elisa Mancuso, also on behalf of AICE, AHAD‐AP, AHCDC, ATHN, CLAHT, EHC, French CRH & MHEMO, HTCCNC, NBDF, PEDNET, UKHCDO, WFH   +59 more
wiley   +1 more source

Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate. [PDF]

Neuropediatrics
Brands MM, de Puyraimond C, Gospe SM, Schiff MM, Jaeger B, Koot BG, Raphael MF, Lubout CM, Soto B, Delanne J, Imbard A, Zempel J, Kraal KC, Scheenstra R, Clayton PT.   +14 more
europepmc   +1 more source

The Association Between Pressure Ulcer Development and In‐Hospital Outcomes: A Nationwide Hospitalization‐Level Study in Korea

Journal of Advanced Nursing, EarlyView.
ABSTRACT Aims To estimate the nationwide incidence of pressure ulcers among hospitalized patients in Korea and to examine their associations with in‐hospital mortality, length of stay, and total inpatient costs. Design A cross‐sectional study using retrospective cohort data.
Seohyun Woo, Seungju Kim, Ji Eun Kim, Sun Jung Kim   +3 more
wiley   +1 more source

Cutaneous Manifestations of Inborn Errors of Immunity: Clinical Clues to Immune Disorders. [PDF]

Medicina (Kaunas)
Napiorkowska-Baran K, Pastuszczak M, Płocka-Karpińska M, Tykwińska M, Treichel P, Margossian GA, Margossian CL, Rogalska A, Czajkowski R.   +8 more
europepmc   +1 more source