Extraocular features of Leber hereditary optic neuropathy: A scoping review.

Background: Leber hereditary optic neuropathy (LHON) is a rare inherited mitochondrial disease that leads to mitochondrial dysfunction, resulting in optic nerve damage and vision loss. Systemic involvement has been reported in several LHON cases, referred to as LHON+ disorders. However, the causes and presentations of such conditions have been poorly studied.

A Late-Onset Presentation of Miyoshi Myopathy: A Case Report.

Miyoshi myopathy is a muscular dystrophy disease characterized by muscle weakness and atrophy generally in distal muscle groups, such as in the legs and arms. Miyoshi myopathy is thought to occur due to genetic mutations in the DYSF gene, which codes for the dysferlin protein, which is critical for muscle cell membrane integrity and muscle fiber adhesiveness. The first symptoms begin in early adulthood and include weakness and atrophy in the calves, gait abnormalities, pain and discomfort in affected muscles, and difficulty jumping or walking on tiptoes.

The Potential of SARMs and Antimyostatin Agents in Addressing Lean Body Mass Loss From GLP-1 Agonists: A Literature Review.

Glucagon-like peptide-1 receptor agonists (GLP-1 RAs) have demonstrated substantial weight loss effects among patients with diabetes and obesity. However, given the rapid weight loss induced, there is concern about the total change in body composition, including lean body mass (LBM). Current literature on these effects contains significant heterogeneity, with some studies reporting a loss of 40%-60% of LBM and others reporting 15% or less.

Current landscape for the management of facioscapulohumeral muscular dystrophy and emerging treatment modalities: A literature review.

Facioscapulohumeral Muscular Dystrophy (FSHD) is a genetic disorder characterized by progressive muscle weakness, primarily affecting the facial, shoulder, and upper arm muscles. In this literature review, we examined the available treatments for FSHD, covering established methods and experimental approaches. We began with an overview of pharmacological treatments, emphasizing the importance of physical therapy and rehabilitation in maintaining muscle strength, improving mobility, preventing contractures, and respiratory therapy for severe cases.

Gluten and its relationship with inflammation and Parkinson's Disease: A literature review.

Parkinson's Disease is a neurodegenerative central nervous system (CNS) disease that primarily affects the dopaminergic cells of the Substantia Nigra in the midbrain and causes a diverse array of symptoms, including dystonia, a loss of balance, difficulty initiating movements, akinesia, muscle spasms, and tremors. It has long been known that environmental and commercial compounds are linked to an increased risk of Parkinson's Disease. Of importance, gluten, a complex polysaccharide, has been hypothesized to cause some of the symptoms related to Parkinson's Disease.

Geographic impact on relative locations of interventional spine and musculoskeletal medicine fellowships relative to residency and first job placement.

Background: Interventional spine and musculoskeletal medicine (ISMM) is a relatively new and rapidly evolving field that utilizes minimally invasive and novel techniques to treat spine and musculoskeletal pain.

Objective: To analyze recent geographical trends of ISMM fellows since these fellowships became recognized by the North American Spine Society (NASS) in 2020 (2020 to 2024).

Methods: The relative distance from residency to fellowship, residency to first job, and fellowship to first job were analyzed.

Analysis of Respiratory Muscle Strength Training in Amyotrophic Lateral Sclerosis (ALS) Patients: A Systematic Review.

Respiratory muscle weakness is a significant contributor to morbidity and mortality in amyotrophic lateral sclerosis (ALS) patients. Respiratory muscle strength training (RMST) has emerged as a potential therapeutic approach to mitigate respiratory muscle weakness in ALS. Still, its efficacy and safety remain unclear due to conflicting evidence and methodological heterogeneity in existing studies.

Exploring New and Potential Indications for Botulinum Toxin Treatment: An Updated Literature Review.

Botulinum toxin (BoNT) has traditionally been utilized to relieve tension in muscular and connective tissue diseases (CTD). However, its usage has rapidly expanded and now encompasses usage for neurological, gastrointestinal, psychological, cardiovascular, ophthalmology, orthopedics, and more. More recently, its usage has been utilized for sequelae of CTDs such as Raynaud's disease and reduced oral aperture secondary to scleroderma/systemic sclerosis.

Outcomes of dietary interventions in the prevention and progression of Parkinson's disease: A literature review.

Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and non-motor symptoms, primarily due to the degeneration of dopaminergic neurons in the substantia nigra pars compacta (SNpc). Factors contributing to this neuronal degeneration include mitochondrial dysfunction, oxidative stress, and neuronal excitotoxicity. Despite extensive research, the exact etiology of PD remains unclear, with both genetic and environmental factors playing significant roles.

Analyzing the potential of neuronal pentraxin 2 as a biomarker in neurological disorders: A literature review.

Neuronal pentraxin 2 (NP2) plays a significant role in synaptic plasticity, neuronal survival, and excitatory synapse regulation. Emerging research suggests that NP2 is implicated in the pathogenesis of various neurological disorders, including neurodegenerative diseases, neuropsychiatric disorders, and neuropathies. This literature review extensively analyzes NP2's role in these conditions, thereby highlighting its contributions to synaptic dysfunction, neuroinflammation, and neurotoxic protein aggregation.

Evaluating the Use of Dexamethasone in Diabetic Patients Undergoing Total Joint Arthroplasty: A Systematic Review and Meta-analysis.

Background: The American Association of Hip and Knee Surgeons strongly recommends the use of dexamethasone in patients undergoing total joint arthroplasty due to its therapeutic effects. However, use in diabetic patients is controversial due to safety. Therefore, the objective of this study was to determine safety: (1) calculating the postoperative glucose levels; (2) finding the ideal dexamethasone dosing regimen; and (3) reporting complications of dexamethasone administration in diabetic patients undergoing total joint arthroplasty.

Selective Androgen Receptor Modulators (SARMs) Effects on Physical Performance: A Systematic Review of Randomized Control Trials.

Objective: Selective androgen receptor modulators (SARMs) are potential treatments for ameliorating age-related physical dysfunctions caused by sarcopenia, cachexia and chronic illnesses such as cancer. The purpose of this systematic review is to analyse the effect of SARMs on physical performance and body and evaluate their safety profile.

Methods: A systematic review search criteria following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines was performed in three databases for studies reporting physical parameter outcomes after SARM intervention.

Improved Physical Performance Parameters in Patients Taking Nicotinamide Mononucleotide (NMN): A Systematic Review of Randomized Control Trials.

Nicotinamide adenine dinucleotide (NAD+) is essential in the proper function of many essential cellular processes in the human body. The purpose of this review is to investigate the effect of nicotinamide mononucleotide (NMN), a NAD+ precursor, on physical performance and evaluate the safety profile of supplementation. A systematic review search criteria following the guidelines from the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) was performed in four databases for randomized controlled trials on NMN supplementation.

Implications of the Gut Microbiota for Brain Function and Behavior in Schizophrenia.

Schizophrenia is a severe, chronic psychiatric disorder characterized by delusions, hallucinations, cognitive impairments, and emotional dysregulation. This psychiatric illness is often resistant to treatment. This literature review aims to analyze the relationship between this complex psychological disorder and the gut microbiota found within the human body.

Where Will I Go? Relative Location of Physical Medicine and Rehabilitation Residencies Compared With Medical Schools Among Recent Residents.

Physical medicine and rehabilitation has rapidly been garnering interest as health care increases the emphasis on rehabilitation and management for acute and chronic diseases. This study analyzes recent geographical trends of physical medicine and rehabilitation residents via physical medicine and rehabilitation residents from 2019 to 2023, which were identified from publicly available data. The relative distribution from medical school to residency, medical school to preliminary program, and preliminary program to residency were analyzed.

Advancing Robotic Single-Site Cholecystectomy: Innovations, Challenges, and Future Directions.

The crystalization of the components of bile within the gallbladder can lead to the formation of gallstones (cholelithiasis), which may often require surgical removal of the gallbladder, a procedure known as cholecystectomy, in symptomatic cases. Robotic single-site cholecystectomy (RSSC) is a recently introduced groundbreaking minimally invasive procedure for gallbladder removal. RSSC utilizes robotic technology, offering enhanced dexterity through a single-incision approach, promising improved outcomes such as reduced postoperative pain and superior cosmesis.

Role of the UNC13 family in human diseases: A literature review.

This literature review explores the pivotal roles of the Uncoordinated-13 (UNC13) protein family, encompassing UNC13A, UNC13B, UNC13C, and UNC13D, in the pathogenesis of various human diseases. These proteins, which are evolutionarily conserved and crucial for synaptic vesicle priming and exocytosis, have been implicated in a range of disorders, spanning from neurodegenerative diseases like amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) to immune-related conditions such as familial hemophagocytic lymphohistiocytosis (FHL). The involvement of UNC13A in neurotransmitter release and synaptic plasticity is linked to ALS and FTD, with genetic variations affecting disease progression.

Exploring dietary approaches in the prevention and management of Amyotrophic Lateral Sclerosis: A literature review.

Amyotrophic lateral sclerosis (ALS) is a fatal and complex neurodegenerative disease of upper and lower motor neurons of the central nervous system. The pathogenesis of this multifaceted disease is unknown. However, diet has emerged as a modifiable risk factor that has neuroprotective effects towards other neurological disorders such as Alzheimer's, Parkinson's and dementia.

The Role of Sirtuin 1 (SIRT1) in Neurodegeneration.

Sirtuins (SIRT) are a class of histone deacetylases that regulate important metabolic pathways and play a role in several disease processes. Of the seven mammalian homologs currently identified, sirtuin 1 (SIRT1) is the best understood and most studied. It has been associated with several neurodegenerative diseases and cancers.

Patient-Reported Outcomes and Factors Impacting Success of the Periacetabular Osteotomy.

Hip dysplasia is a condition affecting both infants and adults, characterized by a shallow acetabulum that does not sufficiently cover the head of the femur. This leads to instability of the hip and elevated levels of mechanical stress around the acetabular rim. A popular procedure for the correction of hip dysplasia is the periacetabular osteotomy (PAO), in which fluoroscopically guided osteotomies around the pelvis are made to allow for repositioning of the acetabulum to fit properly on the femoral head.

Complications and Outcomes of the Nuss Procedure in Adult Patients: A Systematic Review.

Pectus excavatum is a congenital chest wall deformity, commonly identified in early childhood, creating a "sunken chest" appearance. Over time, the deformity can worsen, thus impacting cardiopulmonary function and creating significant body image disturbance in patients. The Nuss procedure is a minimally invasive technique in which a curved steel bar is introduced underneath the sternum through small bilateral thoracic incisions to correct the deformity.