Internal Medicine
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Nerve Disorders from Mutations in the BSCL2 Gene
The neuromuscular syndromes caused by BSCL2 gene mutations may mimic several other disorders, including Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis.
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Molecular and Cellular Correlates of Human Nerve Regeneration
Specific and objective measures of improvement after carpal tunnel decompression (i.e., electrodiagnostic testing, somatosensory function, and intraepidermal nerve fiber density) also correlated with upregulation of ADCYAP1/PACAP genes. These genes may be potential therapeutic targets in the future.
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Dermatomyositis Sine Dermatitis Is an Important Clinical Entity
Dermatomyositis is an autoimmune disorder of skeletal muscle associated with a variety of auto-antibodies and specific muscle pathology but it may not have a skin rash. Muscle pathology and antibody determinations are important for accurate diagnosis and treatment.
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Randomized Diagnostic Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders
The results of this study indicate that first-line genome sequencing in pediatric patients with suspected genetic white matter disease is more diagnostically efficient, defined as higher diagnostic efficacy and shorter time to diagnosis, than current standard of care approaches.
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Plasma Phospho-Tau217 Is a Promising Alzheimer’s Disease Biomarker
Validation and replication of findings in the use of the blood biomarker phospho-tau 217 for the diagnosis of Alzheimer’s disease holds out the possibility for a new era in the early diagnosis and treatment of this debilitating illness.
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Labor, Pain Management, and Acupuncture: A Cochrane Review
This Cochrane review evaluating acupuncture and acupressure for pain management during labor finds acupuncture may lead to reduced use of pharmacological agents for pain control while acupressure may reduce pain intensity. Higher-quality studies are needed.
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Vitamin D and Colon Cancer
A self-report of any vitamin D supplementation is associated with a decrease in colorectal polyps; adjusted odds ratio (aOR) 0.57 (95% confidence interval [CI], 0.33-0.96) in high-latitude conditions. A self report of meeting 600 IU of vitamin D, the recommended daily intake for that region, is associated with a decrease in high-risk adenomatous polyps, with an aOR of 0.78 (95% CI, 0.62-0.99) in high-latitude conditions.
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The Few-Foods Diet and ADHD
This Dutch study describes a six-month follow-up of children with attention deficit hyperactivity disorder (ADHD) introduced to the Few-Foods Diet. Results indicate a significant decrease in ADHD symptoms and medication in children compliant with the diet.
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Assessing and Treating Exacerbations of Chronic Obstructive Pulmonary Disease
People with chronic obstructive pulmonary disease frequently seek care for acute exacerbations, which are associated with significant morbidity and mortality. Therefore, it is crucial for physicians to understand how to assess and treat these patients appropriately.
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Infectious Disease Alert Updates
Things Do Not Always Go Better with Cola; ‘Hygiene Theater’; Geodynamics of COVID-19 in Brazil