Age at onset mediates genetic impact on disease severity in facioscapulohumeral muscular dystrophy.

Facioscapulohumeral muscular dystrophy type 1 (FSHD1) patients exhibit marked variability in both age at onset (AAO) and disease severity. Early onset FSHD1 patients are at an increased risk of severe weakness, and early onset has been tentatively linked to the length of D4Z4 repeat units (RUs) and methylation levels. The present study explored potential relationships among genetic characteristics, AAO and disease severity in FSHD1.

Pan-cancer analysis reveals age-associated genetic alterations in protein domains.

Cancer incidence and mortality differ among individuals of different ages, but the functional consequences of genetic alterations remain largely unknown. We systematically characterized genetic alterations within protein domains stratified by affected individual's age and showed that the mutational effects on domains varied with age. We further identified potential age-associated driver genes with hotspots across 33 cancers.

Severe bongkrekic acid poisoning caused by eating spoiled Auricularia auricula: a case report.

Background: Bongkrekic acid is a rare mitochondrial toxin produced by the Burkholderia cocovenenans subsp. Bongkrekic acid poisoning has a case fatality rate of more than 50%, and progresses rapidly to multiple organ failure. However, limited clinical information is available regarding this phenomenon.

Impact of Cooking Methods on Sensory Evaluation and Nutritional Properties of Caterpillar Medicinal Mushroom Cordyceps militaris (Ascomycetes).

This study addresses the alterations in nutrients [calcium, iron, and vitamins C and E (VC and VE, respectively)] and cordycepin content, alongside its sensory appeal in Cordyceps militaris, subjected to five distinct cooking methods: boiling, steaming, roasting, microwaving, and deep-frying. A comparative analysis showed the notable decline in nutrient content across most cooking methods excluding deep-frying. In notable contrast, the content of VE was substantially amplified during deep-frying, thereby emphasizing its value in preserving nutrients.

MRI-based microvascular invasion prediction in mass-forming intrahepatic cholangiocarcinoma: survival and therapeutic benefit.

Objectives: To establish an MRI-based model for microvascular invasion (MVI) prediction in mass-forming intrahepatic cholangiocarcinoma (MF-iCCA) and further evaluate its potential survival and therapeutic benefit.

Methods: One hundred and fifty-six pathologically confirmed MF-iCCAs with traditional surgery (121 in training and 35 in validation cohorts), 33 with neoadjuvant treatment and 57 with first-line systemic therapy were retrospectively included. Univariate and multivariate regression analyses were performed to identify the independent predictors for MVI in the traditional surgery group, and an MVI-predictive model was constructed.