Maturity-Onset Diabetes of the Young 10 (MODY10): A Comprehensive Review of Genetics, Clinical Features, and Therapeutic Advances. [PDF]
Mazloum A +8 more
europepmc +1 more source
Hypogonadism in Cisgender Men Living With HIV: Prevalence, Clinical and Metabolic Features
ABSTRACT Background Hypogonadism is frequently observed in men living with human immunodeficiency virus (HIV), although its prevalence, etiology, and predictors remain incompletely understood. Objective To evaluate the prevalence of hypogonadism and its association with metabolic factors in men living with HIV (MLWH), on stable antiretroviral therapy ...
Felipe Augusto Azevedo Leao +8 more
wiley +1 more source
Maturity-Onset Diabetes of the Young Associated With a Pathogenic ABCC8 Variant: Expanding the Phenotypic Spectrum. [PDF]
Velásquez-Hernandez MS +3 more
europepmc +1 more source
Androgens Modulate Tumor–Immune Interactions in Testicular Germ Cell Tumors
ABSTRACT Background The majority of testicular germ cell tumors (TGCT) are derived from the germ cell neoplasia in situ and arise after puberty in the local presence of high levels of testosterone. The seminoma subtype features a rich inflammatory infiltrate which impacts tumor progression but the role of testosterone in shaping tumor–immune ...
Ida Hamann +6 more
wiley +1 more source
Focusing on Rare Variants Related to Maturity-Onset Diabetes of the Young in Children. [PDF]
Ding Y +13 more
europepmc +1 more source
MRI BRAIN lesions and growth after antenatal steroids in preterm infants: Does timing matter?
Timing matters: antenatal corticosteroids reduce brain injury in very low birth weight infants, but their protective effect in extremely preterm neonates declines when birth occurs beyond 7 days from administration. Abstract Introduction Antenatal corticosteroids (ACS) are widely used to improve outcomes in preterm infants, with known benefits on ...
Mariya Malova +15 more
wiley +1 more source
Two novel pathogenic PDX1 variants in two Japanese patients with maturity-onset diabetes of the young. [PDF]
Tanaka S, Akagawa H, Hase M, Iwasaki N.
europepmc +1 more source
Retinal dystrophies simulating geographic atrophy: A diagnostic challenge
Abstract Geographic atrophy (GA) is the chronic loss of retinal pigment epithelium, photoreceptors and choriocapillaris, marking the dry late stage of age‐related macular degeneration (AMD). GA prevalence is expected to rise in the upcoming decades. Advanced GA leads to central scotomas, reducing visual acuity and quality of life, potentially resulting
Johanna M. Colijn +3 more
wiley +1 more source
Emerging phenotype: Maturity-onset diabetes of the young type 5 (MODY-5) - mechanisms, clinical spectrum, and unmet needs. [PDF]
Nurkolis F +7 more
europepmc +1 more source
Clinical and molecular features of PRCD‐associated retinopathy
Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin +30 more
wiley +1 more source

