Results 171 to 180 of about 8,625 (250)

The utility of the term ‘Rett‐like’ in relation to Rett syndrome: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
Our findings show that ‘Rett‐like’ generally describes females with developmental disability, typically with no period of regression. We establish that there is a broad genetic landscape encompassing this disorder. Clinical utility of ‘Rett‐like’ is limited, with inadequate evidence of validity and diagnostic use of ‘Rett‐like’.
Anahita Khot, Daniel E Lumsden
wiley   +1 more source

Genetics‐Informed Pharmacological Intervention in Gestational Diabetes Mellitus: Current Therapeutic Alignment, Emerging Targets and a Translational Roadmap

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Background Gestational diabetes mellitus (GDM) complicates roughly one in seven pregnancies and predicts later maternal type 2 diabetes mellitus (T2DM). Yet its pharmacological management still rests on a handful of agents (insulin, metformin and glibenclamide), none of them selected on the basis of the disease's molecular genetics.
Wael Osman
wiley   +1 more source

[Congenital deficiency of Factor VII (hypoproconvertinemia)].

Pediatria polska, 1969
J, Kozlowska, E, Ludert
openaire   +1 more source

Glycaemic Management and Pregnancy Outcomes in HNF1A‐MODY

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Introduction Birthweight of HNF1A‐affected offspring is largely similar to the background population with rarely reported cases of large for gestational age (LGA) and neonatal hypoglycaemia (NH). Conventional clinical management of pre‐gestational diabetes appears to be sufficient in managing HNF1A‐affected women in pregnancy.
M. T. Crowley, P. McCluskey, N. Ng, B. Sanchez‐Lechuga, A. Fleming, M. Hatunic, B. Kinsley, S. Bacon, K. Colclough, M. Kennelly, M. M. Byrne   +10 more
wiley   +1 more source

Charting the course of Sjögren's disease: A historical analysis of scientific progress

European Journal of Oral Sciences, EarlyView.
Abstract Sjögren's disease (SjD) bears the name of the Swedish ophthalmologist Henrik Sjögren. His 1933 doctoral thesis on keratoconjunctivitis sicca ignited interest, yet much remains under debate. SjD is an autoimmune disorder that primarily affects the exocrine glands, particularly the salivary and lacrimal glands, leading to a dryness of the eyes ...
Diego Ustárroz Cantali, Fabiola Reis de Oliveira, Denise Cantarelli Machado, Moisés Evandro Bauer   +3 more
wiley   +1 more source

Energetic dysregulations in psychotic disorders: Targets for new therapeutics

The FEBS Journal, EarlyView.
The present review synthesizes literature documenting aberrant energy production and use, specifically related to mitochondrial and redox dysregulation, in psychotic disorders. Findings from different levels of investigation—genetic, cellular, and in vivo imaging—converge on aberrant energy metabolism as a hallmark of psychotic disorders.
Jacey Anderson, Kai‐Christian Sonntag, Thao Do Vy Le, Kaitlin Shannon, Chao Wang, Fei Du, Xi Chen, Donna McPhie, Dost Ongur, Bruce Cohen, Virginie‐Anne Chouinard   +10 more
wiley   +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

Perioperative Prophylaxis in Pediatric Factor VII Deficiency: Experience From Rabat Children's Hospital. [PDF]

Cureus
El Messari C, Isfaoun Z, El Ansari N, Lakhrissi M, Kababri M, Kili A, Hessissen L, Elkhorassani M.   +7 more
europepmc   +1 more source

Rare Bleeding Disorders and Bleeding Disorder of Unknown Cause: Current Understanding and Recent Developments

Haemophilia, EarlyView.
ABSTRACT Rare bleeding disorders (RBDs) represent a diverse group of inherited conditions involving coagulation factors or platelets. These conditions, such as Glanzmann thrombasthenia (GT) or severe coagulation factor deficiencies, are uncommon. In contrast, bleeding disorder of unknown cause (BDUC) is a diagnosis of exclusion without an identifiable ...
Alessandro Casini, Robert Klamroth, Bauke Haisma, Dino Mehic, Saskia E. M. Schols   +4 more
wiley   +1 more source

Late Thrombosis With Ischemia After Left Main Coronary Artery Fistula Closure: When Simplified Repair Is Not Enough. [PDF]

JACC Case Rep
Mehta V, Tenure R, Rahmani R, Shi W.
europepmc   +1 more source