Fertility induction associated with improved peripheral reproductive parameters in male Prop1df/dfmice subjected to GH and levothyroxine replacement [PDF]
Objective: The aim of this study was to characterize the parameters of reproductive anatomy and pituitary hormone expression levels in ames dwarf mice (Prop1df/df).
Bruna Viscardi Azevedo+7 more
doaj +1 more source
Background Heterozygous loss-of-function mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene cause CHARGE syndrome characterized by various congenital anomalies.
Yoshinari Obata+9 more
doaj +1 more source
Is physiological glucocorticoid replacement important in children? [PDF]
Cortisol has a distinct circadian rhythm with low concentrations at night, rising in the early hours of the morning, peaking on waking and declining over the day to low concentrations in the evening.
Arlt+81 more
core +1 more source
Morning Glory Disc Anomaly: Spectrum of Associated Anomalies
ABSTRACT Background and Purpose Morning glory disc anomaly (MGDA) is a rare congenital abnormality of the posterior globe with characteristic excavation of the optic disc. Associated abnormalities of the head and neck have been reported in individuals with MGDA as single or small series case reports. The goal of this retrospective study was to identify
Jonathan A. Class+4 more
wiley +1 more source
MAGEL2 (patho‐)physiology and Schaaf–Yang syndrome
Pathogenic variants in MAGEL2 cause Schaaf–Yang syndrome (SYS). MAGEL2 has diverse physiological functions, particularly in the human hypothalamus. Loss of function likely explains several SYS phenotypes. In addition it has become evident that neomorphic effects of truncated MAGEL2 proteins likely contribute to the severity of this complex ...
Tim Schubert, Christian P. Schaaf
wiley +1 more source
Prevention of neuromusculoskeletal frailty in slow-aging ames dwarf mice: longitudinal investigation of interaction of longevity genes and caloric restriction. [PDF]
Ames dwarf (Prop1 (df/df) ) mice are remarkably long-lived and exhibit many characteristics of delayed aging and extended healthspan. Caloric restriction (CR) has similar effects on healthspan and lifespan, and causes an extension of longevity in Ames ...
Oge Arum+3 more
doaj +1 more source
Deep-learning models improve on community-level diagnosis for common congenital heart disease lesions [PDF]
Prenatal diagnosis of tetralogy of Fallot (TOF) and hypoplastic left heart syndrome (HLHS), two serious congenital heart defects, improves outcomes and can in some cases facilitate in utero interventions. In practice, however, the fetal diagnosis rate for these lesions is only 30-50 percent in community settings. Improving fetal diagnosis of congenital
arxiv
Congenital anomalies of the optic nerve [PDF]
Congenital optic nerve head anomalies are a group of structural malformations of the optic nerve head and surrounding tissues, which may cause congenital visual impairment and blindness. Each entity in this group of optic nerve anomalies has individually
Amador-Patarroyo, Manuel J.+2 more
core +1 more source
Disease‐Associated Factors at the Endoplasmic Reticulum–Golgi Interface
The ER–Golgi interface has garnered significant attention due to recent discoveries suggesting potential non‐vesicular transport mechanisms and regulation through liquid‐liquid phase separation. Numerous diseases linked to mutations in proteins located at this interface have been identified, highlighting the importance of comprehensive reviews in this ...
Miharu Maeda+2 more
wiley +1 more source
Genetic causes of hypopituitarism
Hypopituitarism in neonates is rare, but has life-threatening complications if untreated. This review describes the features of hypopituitarism and the evidence for which infants in whom a genetic cause should be suspected.
Katherine Parkin+3 more
doaj +1 more source