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Paramyotonia congenita is an autosomal dominant skeletal muscle channelopathy caused by missense mutations in SCN4A, the gene encoding the α subunit of the human skeletal muscle voltage-gated sodium channel NaV1.4. Here, we report a three-generation family in which six members present clinical symptoms of paramyotonia congenita characterized by a marked worsening of myotonia by cold and by the pr...
This study was performed to examine the association of 2 functional polymorphisms of the promoter region of the serotonin 5-HTR2C receptor gene: -759C/T (rs3813929) and -97G/C (rs518147) with risperidone-induced insulin resistance syndrome in an Indian population. In this case-control study, 52 adult patients of either sex, having no insulin resistance syndrome before initiating treatment, who wer...
To assess the influence of a 50% distal ulnectomy on mediolateral carpal stability in the dog.
Reduced skeletal muscle mass in the IUGR fetus persists into adulthood and may contribute to increased metabolic disease risk. To determine how placental insufficiency with reduced oxygen and nutrient supply to the fetus affects hindlimb blood flow, substrate uptake, and protein accretion rates in skeletal muscle, late gestation CON (n = 8) and IUGR (n = 13) fetal sheep were catheterized with ...
We examined the prognosis of liver cirrhosis (LC) patients with and without portal hypertension (PHT) and muscle volume loss (MVL).
Satoyoshi syndrome was first reported in Japan in 1967. It is a rare multisystem disorder of presumed autoimmune etiology that is characterized by alopecia, intermittent painful muscle spasms, diarrhea, and antinuclear antibody positivity. We report an 11-year-old girl with Satoyoshi syndrome who presented to the dermatology department for treatment of alopecia universalis. We present this case to...
New onset of ventricular fibrillation (VF) in asymptomatic patients with Brugada-type ECG is not frequent, but it cannot be negligible. Risk markers for predicting VF are usually based on results of analysis in symptomatic patients, and they have not been determined for asymptomatic patients. We analyzed ECG markers in patients with Brugada syndrome to differentiate the risk factors for VF in both...
Myasthenia gravis (MG) is an archetypal autoimmune disease. The pathology is characterized by autoantibodies to the acetylcholine receptor (AChR) in most patients, or to muscle-specific tyrosine kinase (MuSK) in others, and to a growing number of other postsynaptic proteins in smaller subsets. A decrease in the number of functional acetylcholine receptors (AChR), or functional interruption of the ...
Assessing inspiratory muscle deoxygenation and blood flow can provide insight into anaerobic stress, recruitment strategies and mechanisms of inspiratory muscle limitation. Therefore, this review aimed to synthesize measurements of inspiratory muscle oxyhaemoglobin (O2 Hb), deoxyhaemoglobin (HHb), blood volume and flow of the inspiratory muscles acquired via near-infrared spectroscopy (NIRS) durin...
The most common temporomandibular joint (TMJ) internal derangement is an abnormal relationship of the disc with respect to the mandibular condyle, articular eminence, and glenoid fossa - disc displacement.
Feeding issues are very common in individuals with CHARGE syndrome and can lead to increased morbidity and mortality. The aim of this study was to expand upon the limited knowledge base of feeding and gastrointestinal issues in individuals with CHARGE syndrome. Parents of individuals (age range 1-18 years) with CHARGE syndrome, with or without feeding/gastrointestinal issues, were recruited throug...
Static alignment influences knee loading and predicts osteoarthritis (OA) progression. Periarticular bone is important in dispersing forces across the knee. And there is substantial evidence for molecular crosstalk between cartilage and subchondral bone. Our objective was to evaluate the relationship of periarticular trabecular morphology and bone mineral density (BMD) with knee alignment.
Previously, we have presented an expedited strategy for sustained delivery of BMP-2 to bone lesions based on the implantation of gene activated fat and muscle fragments. The aim of the present in vitro experiments was to evaluate the potential of muscle with fascia as a BMP-2 delivering osteo-regenerative implant in comparison to fat tissue and muscle alone.
We read with interest the letter from Shimizu et al. regarding their large survey of 121 Japanese physicians following a total of 239 patients with relapsing polychondritis (RP). Using correlation matrix, they found that airway involvement (laryngo and tracheobronchial (TB)) was strongly associated with nasal chondritis whereas the relationship was inverse with external ear chondritis suggesting ...
Cutaneous features of hyperandrogenism in polycystic ovary syndrome (PCOS) include acne, hirsutism, seborrhea, androgenic alopecia (AGA), and acanthosis nigricans (AN). However, the relationships have not been well known broadly in terms of clinical hyperandrogenism and biochemical markers.
Transforming growth factor (TGF)-β1 is considered a key factor in fibrogenesis, and blocking TGF-β1 signaling pathways diminishes fibrogenesis in animal models. The objective of this study was to determine whether nelfinavir mesylate (NFV), a drug approved by the Food and Drug Administration (FDA) for treating HIV infection can be repurposed to treat pulmonary fibrosis in systemic scleroderma (S...
Malignant psoas syndrome (MPS) is a rare but distressing pain syndrome observed in advanced cancer patients. Pain due to MPS is often refractory to multi-modal analgesic treatment, including opioid analgesics. As only one case demonstrating the efficacy of neuraxial analgesia in managing pain due to MPS has been reported, its role in MPS remains uncertain.
CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be impl...
Anterior Cutaneous Nerve Entrapment Syndrome (ACNES) is a debilitating neuropathic pain condition. A small portion of patients do not respond to any currently available treatment modalities. These patients, often young women, might benefit from targeted spinal cord stimulation of the dorsal root ganglion (DRG).
To identify and describe two-year trajectories of fear-avoidance beliefs on physical activity and to identify predictors of these trajectories in people with rheumatoid arthritis (RA).
To assess serum levels of high mobility group box 1 (HMGB1) and the soluble receptor for advanced glycation endproducts (sRAGE) in patients with Sjögren's Syndrome (SS) and explore correlations with disease activity.
This 24-week, Phase IIb, double-blind study (NCT01715896) evaluated mavrilimumab (anti-granulocyte-macrophage colony-stimulating factor [GM-CSFR]-α monoclonal antibody) and golimumab (anti-tumor necrosis factor [TNF] monoclonal antibody) in patients with rheumatoid arthritis (RA), with inadequate responses to disease-modifying antirheumatic drugs (DMARD-IR) and/or anti-TNF agents (anti-TNF-IR).
Sturge-Weber Syndrome (SWS) is a neurocutaneous disease with clinical manifestations including ocular (glaucoma), cutaneous (port-wine birthmark), neurological (seizures) and vascular problems. Molecular mechanisms of SWS pathogenesis are initiated by the somatic mutation in GNAQ. Therefore, no definite treatments exist for SWS and treatment options only mitigate the intensity of its clinical mani...