An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]
An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Aarli +49 more
core +1 more source
The SIRT1‐targeted saRNA‐delivering tetrahedral DNA (TSA) treatment effectively upregulates SIRT1 expression, which subsequently promotes FOXO3A deacetylation. This deacetylation event relieves FOXO3A's transcriptional repression on the BNIP3 gene, thereby initiating PINK1‐PARKIN‐dependent mitophagy.
Wei Wang +10 more
wiley +1 more source
Abstract In the Lake Koocanusa‐Kootenai River system (Montana, USA and British Columbia, Canada), selenium (Se) contamination has become an international concern and is suspected to contribute to the observed burbot (Lota lota) population collapse. Due to our limited ability to sample burbot in Lake Koocanusa for monitoring studies, we used a reference
Stephanie D. Graves +6 more
wiley +1 more source
Cowden syndrome - Diagnostic skin signs [PDF]
Cowden syndrome is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. The most important clinical features include carcinomas of the breast and thyroid, and hamartomatous polyps of the gastrointestinal tract.
Burgdorf, Walter H. C. +2 more
core +1 more source
Effect Differences of Omega‐3 Fatty Acids From Plant Oil and Fish Oil on Human Health
Omega‐3 fatty acids in plant oil is no less than fish oil on human health. ALA in plant oil takes directly healthy effects without conversion to DHA and EPA. Plant oil can be substitutes for fish oil to support partial ω‐3 fatty acids. For people who cannot afford fish oil, plant oil is also good for public health.
Mengxue Fang +3 more
wiley +1 more source
West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother
Infantile vitamin B12 deficiency, a rare nutritional disorder in developed countries, is characterized by megaloblastic anemia and non-specific symptoms, including failure to thrive, hypotonia, and seizure.
Pin Fee Chong +6 more
doaj +1 more source
Obesity and Asthma: Adiponectin Receptor 1 (Adipo R1) and Adiponectin Receptor 2 (Adipo R2) are expressed by normal human bronchial epithelial (NHBE) cells at air-liquid interface (ALI) and expression changes with IL-13 stimulation [PDF]
Obesity is recognized as an important risk factor for the development of many chronic diseases such as hypertension, Type 2 diabetes mellitus (T2DM) cardiovascular disease, cancer, renal disease, neurologic dysfunction, metabolic syndrome and asthma (3 ...
Bradley, Jennifer L
core +1 more source
Risk factors for drug resistant tuberculosis in Leicestershire - poor adherence to treatment remains an important cause of resistance [PDF]
In the light of rising numbers of tuberculosis (TB) cases in the United Kingdom, the problem of anti-tubercular drug resistance remains a significant concern.
Hayward, AC +3 more
core +2 more sources
Does the abiotic environment influence the distribution of flower and fruit colors?
Abstract Premise Color in flowers and fruits carries multiple functions, from attracting animal partners (pollinators, dispersers) to mitigating environmental stress (cold, drought, UV‐B). With research historically focusing on biotic interactions as selective agents, however, it remains unclear whether abiotic stressors impact flower and fruit colors ...
Agnes S. Dellinger +3 more
wiley +1 more source
Low-Dose ACTH Therapy for Infantile Spasms
The lowest effective ACTH dose, with fewest adverse effects, for the treatment of West syndrome (WS) was determined in a comparative, randomly assigned, controlled study involving 25 patients with cryptogenic (CWS, n=9) or symptomatic (SWS, n=16) WS, at ...
J Gordon Millichap
doaj +1 more source

