Results 41 to 50 of about 1,410,958 (292)
Supraventricular tachyarrhythmias pose a significant challenge in neonates and infants, particularly within the first year of life, where prompt and effective management is crucial.
Giovanni Domenico Ciriello +13 more
doaj +1 more source
BackgroundThere is a paucity of data regarding late‐onset pulmonary hypertension (PH) in patients with transposition of the great arteries and atrial switch surgery.
Marie‐A. Chaix +11 more
doaj +1 more source
Image to Fit the Clinical Picture: Point-of-care Ultrasound Assessment of Ebstein’s Anomaly in Peru [PDF]
Ebstein’s anomaly is a congenital heart defect that when left untreated can lead to unique physical exam and ultrasound findings. This case describes a patient who presented with dyspnea and was found to have cyanosis, clubbing, and dilation of right ...
Dreyfuss, Andrea +2 more
core
Prevalence and diagnosis of congenital uterine anomalies in women with reproductive failure: a critical appraisal [PDF]
BACKGROUND: The prevalence of congenital uterine anomalies in women with reproductive failure remains unclear, largely due to methodological bias. The aim of this review is to assess the diagnostic accuracy of different methodologies and estimate the ...
Cocksedge, K.A. +2 more
core +1 more source
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source
RNA sequencing of archived neonatal dried blood spots
Neonatal dried blood spots (DBS) are routinely collected on standard Guthrie cards for all-comprising national newborn screening programs for inborn errors of metabolism, hypothyroidism and other diseases. In Denmark, the Guthrie cards are stored at −20 °
Jonas Bybjerg-Grauholm +8 more
doaj +1 more source
Risk of low birth weight near EUROHAZCON hazardous waste landfill sites in England.
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
The views of young people with congenital cardiac disease on designing the services for their treatment [PDF]
Background and purpose: There is little documented evidence of young people with congenital cardiac disease being consulted as to what help, if any, they really need in relation to their condition. Most research concentrates on the medical aspects of the
Kendall, L. +3 more
core +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
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
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

