A5071302405- Climate Change and Health Impacts
- Genomics and Rare Diseases
- Healthcare cost, quality, practices
- Tryptophan and brain disorders
- Genetics and Neurodevelopmental Disorders
- Diet and metabolism studies
- Gut microbiota and health
- Mitochondrial Function and Pathology
- Infection Control and Ventilation
- Musculoskeletal synovial abnormalities and treatments
- Cancer Diagnosis and Treatment
- Reconstructive Surgery and Microvascular Techniques
- Biotin and Related Studies
- Neurological disorders and treatments
- Epilepsy research and treatment
- Clinical practice guidelines implementation
- Genetic Neurodegenerative Diseases
- Healthcare and Environmental Waste Management
- Pleural and Pulmonary Diseases
- Thermoregulation and physiological responses
- Global Healthcare and Medical Tourism
- Orthopedic Surgery and Rehabilitation
- Genomic variations and chromosomal abnormalities
- Thyroid Disorders and Treatments
- Ultrasound in Clinical Applications
Rush University Medical Center
2023-2024
University of Michigan–Ann Arbor
2019-2023
John Wiley & Sons (United States)
2020
Hudson Institute
2020
Centre Hospitalier Universitaire de Lille
1998
Objective SCN8A encephalopathy is a developmental and epileptic (DEE) caused by de novo gain‐of‐function mutations of sodium channel Na v 1.6 that result in neuronal hyperactivity. Affected individuals exhibit early onset drug‐resistant seizures, delay, cognitive impairment. This study was carried out to determine whether reducing the abundance Scn8a transcript with an antisense oligonucleotide (ASO) would delay seizure prolong survival mouse model encephalopathy. Methods ASO treatment...
Abstract Background Peripheral neuropathy (PN) is a common complication in obesity, prediabetes, and type 2 diabetes, though its pathogenesis remains incompletely understood. In murine high-fat diet (HFD) obesity model of PN, dietary reversal (HFD-R) to low-fat standard (SD) restores nerve function the lipidome normal. As gut microbiome represents potential link between fat intake health, current study assessed shifts community structure by 16S rRNA profiling during paradigm various niches....
Abstract Objective Monoallelic de novo gain‐of‐function variants in the voltage‐gated sodium channel SCN8A are one of recurrent causes severe developmental and epileptic encephalopathy (DEE). In addition, a small number or inherited monoallelic loss‐of‐function have been found patients with intellectual disability, autism spectrum disorder, movement disorders. Inherited causing either gain also associated less conditions such as benign familial infantile seizures isolated all three...
<h3>OBJECTIVES</h3> To evaluate possible influences of CCG and Δ2642 glutamic acid polymorphisms adjacent to the (CAG)n trinucleotide repeat in Huntington's disease gene IT15 on some clinical features (age symptoms) at onset. <h3>METHODS</h3> 84 patients a control group 68 unaffected relatives were studied. Patients all belonged affected persons tested for molecular confirmation disease. The length CAG sequence determined by quantitative polymerase chain reaction. <h3>RESULTS</h3> Two...
Abstract Background Refinement of surgical preference cards may reduce waste from surgery. This study aimed to characterize surgeon perceptions and practices regarding card maintenance, identify barriers updating cards, explore whether opinions on environmental stewardship relate maintenance. Methods was a mixed methods survey performed at single tertiary academic medical center. Surgeons completed questions accuracy, frequency updates, perceived impact their cards. Responses were compared...
Alison C. Coogan, Lilia Lunt, Melissa M. Rangel, Brandon Alba, Cristina O'Donoghue, Hayley J. Petit, Andrea Madrigrano
Gut microbiota has recently emerged as a major regulator of energy utilization, glycemia and immunological function. Disturbances in gut have been widely reported obesity type 2 diabetes (T2D). We previously shown that dietary reversal (DR) alleviates peripheral neuropathy (PN), common complication T2D. However, the crosstalk between microbiome, nerve function, DR PN remains unknown. Therefore, objective this study was to identify changes microbiome correlate them with phenotypes during...