Medical Genetic Counseling Of Women With Congenital Heart Diseases Of Fetus [PDF]
, 2019 Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods.
Helner, N. (Nadiya) +3 more
core +3 more sources
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Risk of low birth weight near EUROHAZCON hazardous waste landfill sites in England.
, 2007 Few studies have investigated the occurrence of both low birth weight (LBW) and congenital anomalies in populations living near hazardous waste landfill sites.
Dolk, Helen +2 more
core +1 more source
Restoring Retinal Function in a Mouse Model of Hereditary Blindness [PDF]
, 2005 Moore discusses a new study showing rescue of photoreceptor function using gene and drug therapies in a mouse model of Leber congenital ...
Moore, Tony
core +4 more sources
A systematic review and meta-analyses of pregnancy and fetal outcomes in women with multiple sclerosis: a contribution from the IMI2 ConcePTION project. [PDF]
, 2020 Neurologists managing women with Multiple Sclerosis (MS) need information about the safety of disease modifying drugs (DMDs) during pregnancy. However, this knowledge is limited.
A Haghikia +20 more
core +1 more source
Respiratory Research, 2019 Background C-X-C chemokine receptor type 4 (CXCR4) may be involved in the development of pulmonary arterial hypertension (PAH). CXCR4 inhibitor AMD3100 was described to have a positive effect on the prevention of pulmonary arterial muscularization in PAH
Tingting Zhang +7 more
doaj +1 more source
Subcutaneous finger cardioverter-defibrillator in low weight paediatric patients: a case series
Monaldi Archives for Chest Disease, 2022 Placement of traditional transvenous implantable cardioverter defibrillator (ICD) system in low-weight children is often difficult because of their vessel size, the elevated risk of lead malfunction and failure, children’s growth and various anatomic ...
Berardo Sarubbi +7 more
doaj +1 more source
Indian Journal of Hematology and Blood Transfusion, 2013 Congenital leukemia is a rare but a well-documented disease in which leukemic process is detected at birth or very shortly thereafter (Philip McCoy and Roy Overton, Commun Clin Cytom 22:85-88, 1995). These leukemias represent approximately 0.8 % of all childhood leukemias. We present a case of congenital acute myeloid leukemia manifesting from the very
Sewali Deka Talukdar +5 more
openaire +3 more sources
Advanced Functional Materials, EarlyView.This study presents a microfluidic brain microvascular network‐on‐chip (BMVasChip) to investigate endothelial barrier dysfunction caused by flavivirus non‐structural protein 1 (NS1), including virus‐ and time‐dependent vascular damage, leakiness, and dysfunction.
Monika Rajput +5 more
wiley +1 more source
Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-Tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation [PDF]
, 2014 The objectives of this study were: To investigate computer-assisted digital radiographic measurement of Cobb angles in dogs with congenital thoracic vertebral malformations, to determine its intra- and inter-observer reliability and its association with ...
Faller, Kiterie +5 more
core +7 more sources