Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.

Neuromuscular disorders (NMD) with neonatal or early infantile onset are usually severe and differ in symptoms, complications, and treatment options. The establishment of a diagnosis relies on the combination of clinical examination, morphological analyses of muscle biopsies, and genetic investigations. Here, we re-evaluated and classified a unique collection of 535 muscle biopsies from NMD infants aged 0-6 months examined over a period of 52 years.

Oncologic outcomes for invasive squamous cell carcinoma with a clinically resolved biopsy site managed by watchful waiting: A retrospective cohort study.

Background: Treatment of cutaneous squamous cell carcinoma largely involves surgical excision. Few studies have examined oncologic outcomes of tumors managed by watchful waiting when the lesion appears resolved after the biopsy site has healed.

Objective: To describe oncologic outcomes for patients diagnosed with cutaneous squamous cell carcinoma that was determined clinically resolved at follow-up and subsequently managed by watchful waiting.

Enhancing the quality and consumer satisfaction of dragon fruit beverage production: The effects of geological origin and processing conditions.

Objectives: In this study, the impacts of various processing parameters on the quality and consumer satisfaction of dragon fruit beverages were investigated in order to establish an informative framework for the manufacturing of commercial dragon fruit beverages, focusing on health benefits and safety for consumers, and sensory appeal of the products.

Methods: This study employed various analytical methods to quantify some important phytochemical compounds in dragon fruit juice such as total and reducing sugars, vitamin C, betacyanins, anthocyanins, polyphenol, and so forth. This study also employed the Box-Behnken response surface experimental design to optimize various processing parameters for quality and consumer satisfaction, which include enzymatic pectin hydrolysis parameters and formulation for dragon fruit energy drink.

Parkinson's Disease Polygenic Risk Score and Neurological Involvement in Carriers of the FMR1 Premutation Allele: A Case for Genetic Modifier.

Background: Premutation alleles of the FMR1 X-linked gene containing CGG repeat expansions ranging from 55 to 200 are associated with diverse late-onset neurological involvements, including most severe disorder termed Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). It is intriguing that at least one-third of male, and a much lower than predicted from the X-linkage proportion of female carriers are free of this syndrome. This suggests the existence of secondary genetic factors modifying the risk of neurological involvements in these carriers.