ABSTRACT Dystrophic epidermolysis bullosa (DEB) patients have pathogenic variants in COL7A1, leading to skin fragility, blistering, and scarring. Beremagene geperpavec‐svdt (B‐VEC) is a replication‐defective herpes simplex virus type 1 (HSV‐1)‐based gene therapy vector administered topically to deliver functional COL7A1 to DEB wounds.
Ken Natsuga+12 more
wiley +1 more source
Cardiological rehabilitation, prehabilitation, and cardiovascular prevention in adults with congenital heart defects: tasks and services of the German Pension Insurance-part 1: preventive cardiology and prehabilitation. [PDF]
Barth J+21 more
europepmc +1 more source
Environmental causes of human congenital malformations: The physician\u27s role in dealing with these complex clinical problems caused by environmental and genetic factors. [PDF]
Brent, Robert L
core +1 more source
Years of Potential Life Lost for Children and Adults With Congenital Heart Defects: United States, 2007 to 2017. [PDF]
Nembhard WN+5 more
europepmc +1 more source
Kisspeptin as a test of hypothalamic dysfunction in pubertal and reproductive disorders
Abstract The hypothalamic–pituitary–gonadal axis is regulated by the gonadotropin‐releasing hormone pulse generator in the hypothalamus. This is comprised of neurons that secrete kisspeptin in a pulsatile manner to stimulate the release of GnRH, and, in turn, downstream gonadotropins from the pituitary gland, and subsequently sex steroids and ...
Aureliane C. S. Pierret+5 more
wiley +1 more source
An individualised mobile app was beneficial for the mothers of infants with severe congenital heart defects. [PDF]
Hjorth-Johansen E+7 more
europepmc +1 more source
Epidemiology of hypospadias in China: A nationwide surveillance‐based study, 2010–2020
Abstract Background The prevalence of hypospadias varied internationally. However, epidemiological data on hypospadias in contemporary China remain limited. Objectives We aim to examine the epidemiological characteristics of hypospadias in Chinese population.
Chen Zhiyu+7 more
wiley +1 more source
Amniotic fluid microbiota and metabolism with non-syndromic congenital heart defects: a multi-omics analysis. [PDF]
Xu W+8 more
europepmc +1 more source
Ultrasonic assessment of a large, contemporary cohort in Copenhagen, Denmark, revealed a prevalence of congenital cardiac tumors of 0.002% prenatally (gestational Weeks 18–21) and 0.027% postnatally. All cardiac tumors were located in the ventricles.
Anne‐Sophie Sillesen+9 more
wiley +1 more source