Results 41 to 50 of about 4,687 (160)

Methaemoglobinaemia: From pathophysiology to contemporary clinical management

British Journal of Haematology, EarlyView.
Summary Methaemoglobin (MetHb) is an oxidised form of haemoglobin (Hb) unable to bind oxygen. Raised levels of MetHb reduce the blood's oxygen‐carrying capacity, causing potentially severe hypoxaemia and possible death. The condition arises from three main pathologies: mutations in globin genes causing Haemoglobin‐M, inherited deficiency of the enzyme ...
Alexander J. Twine, David C. Rees
wiley   +1 more source

Association of Assisted Reproductive Technology Treatments with Imprinting Disorders

Global Medical Genetics, 2021
Assisted reproductive technology (ART) is a broad field in infertility that encompasses different types of treatments. These revolutionary treatment methods aimed to aid infertile or subfertile couples. Treatment was expanded exponentially, as 1 to 3% of
T. Kopca, Pinar Tulay
doaj   +1 more source

Novel approaches for drug development against chronic primary pain: A systematic review

British Journal of Pharmacology, EarlyView.
Abstract Chronic primary pain (CPP) persisting for more than 3 months, associated with significant emotional distress without any known underlying cause, is an unmet medical need. Traditional or adjuvant analgesics do not provide satisfactory pain relief for a great proportion of these patients.
Valéria Tékus, Éva Borbély, Andreas Goebel, Ralf Baron, Zsófia Hajna, Zsuzsanna Helyes   +5 more
wiley   +1 more source

Russell-Silver Syndrome: A Case Report with Review of Literature

Journal of Indian Academy of Oral Medicine and Radiology, 2011
Russell-Silver syndrome is a disorder present at birth characterized by low birth weight, poor postnatal growth, craniofacial disproportion, clinodactyly, normal intelligence, downward curvature of the corner of the mouth, syndactyly, cafe-au-fait spots,
Sreedevi, Sunil Chaudhary, P G Agnihotri, Praveen B Reddy, N B Nagaveni   +4 more
doaj   +1 more source

The genetic aetiology of Silver–Russell syndrome [PDF]

Journal of Medical Genetics, 2007
Silver–Russell syndrome (SRS MIM180860) is a disorder characterised by intrauterine and/or postnatal growth restriction and typical facies. However, the clinical picture is extremely diverse due to numerous diagnostic features reflecting a heterogeneous genetic disorder.
S, Abu-Amero, D, Monk, J, Frost, M, Preece, P, Stanier, G E, Moore   +5 more
openaire   +2 more sources

Challenges in Diagnosing Central Adrenal Insufficiency in Children: Cortisol‐Stimulating Tests are Safe and Often Required

Clinical Endocrinology, EarlyView.
ABSTRACT Introduction The accuracy and safety of cortisol‐stimulating tests (CSTs) for assessing hypothalamic–pituitary–adrenal (HPA) axis integrity, including the diagnosis of central adrenal insufficiency (CAI), in children remain uncertain. Although these tests can simultaneously evaluate cortisol and growth hormone secretion, the present study ...
Mariana Peduti Halah, Ana Carolina Maia Teodózio, Davi Casale Aragon, Paula Conde Lamparelli Elias, Margaret de Castro, Ayrton Custodio Moreira, Sonir Rauber Antonini   +6 more
wiley   +1 more source

Syndrome de Silver Russell: A propos de 3 cas et revue de la litterature

The Pan African Medical Journal, 2013
Le syndrome de Silver Russell (SSR) est une maladie génétique rare. Sa prévalence estimée à 1/100.000. Il s'agit d'une pathologie de l'empreinte parentale, caractérisée par une grande diversité phénotypique.
Afaf Lamzouri, Ilham Ratbi, Abdelaziz Sefiani   +2 more
doaj   +1 more source

Processamento auditivo, leitura e escrita na síndrome de Silver-Russell: relato de caso Auditory processing, reading and writing in the Silver-Russell syndrome: case report

Revista da Sociedade Brasileira de Fonoaudiologia, 2012
O objetivo deste trabalho foi descrever os aspectos fonoaudiológicos de processamento auditivo, leitura e escrita de um paciente do gênero masculino com diagnóstico de síndrome de Silver-Russell.
Patrícia Fernandes Garcia, Karina Krähembühl Salvador, Tâmyne Ferreira Duarte de Moraes, Mariza Ribeiro Feniman, Patrícia de Abreu Pinheiro Crenitte   +4 more
doaj   +1 more source

Design and Implementation of an Automated Interpretation Algorithm for Lupus Anticoagulant Functional Testing

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Introduction Lupus anticoagulant (LA) testing is essential, albeit complex, in the laboratory diagnosis of antiphospholipid syndrome (APS). Given the multi‐step workflow and the variability introduced by anticoagulant therapy, reagent differences, and interpretive approaches, result interpretation requires expert evaluation.
Chiara Novelli, Arianna Gatti, Flora Ierna, Elena Riccardi, Irene Cuppari   +4 more
wiley   +1 more source

Melanoma and Other Melanistic Lesions in Brown Bullhead Ameiurus nebulosus From Waterbodies in the Northeastern United States and Canada: Identification of Risk Factors

Journal of Fish Diseases, EarlyView.
ABSTRACT Melanistic lesions, including non‐raised black areas due to proliferations of melanocytes and melanomacrophages in the dermis and epidermis, as well as raised black areas consistent with melanoma, are described in brown bullhead (BBH) Ameiurus nebulosus from three water bodies in the northeastern United States and Quebec, Canada.
Vicki S. Blazer, Peter Emerson, Matthew Bodnar, Thomas Jones, David R. Russell, Matthew Pehrson, Cheyenne R. Smith, Danielle Cleveland, Mark J. Henderson, Patricia M. Mazik   +9 more
wiley   +1 more source