Thymoma patients with or without myasthenia gravis have increased Th17 cells, IL-17 production and ICOS expression.

Thymoma associated myasthenia gravis (TAMG) is a small disease subgroup with autoantibodies against the acetylcholine receptor. The aim of this study was to assess the role of T helper (Th) cells in TAMG compared to thymoma patients without MG (TOMA) and healthy controls (HC). Peripheral blood cells were used for intracellular cytokine measurements and phenotyping of CD4+ Th cells. IL-21 and IL-4 productions and peripheral Th cells were higher in TAMG compared to TOMA patients and HC. Increases of ICOS and Th17 population were detected both in TAMG and TOMA groups. Higher IL-10 and Th1 population have been observed related to thymectomy. ICOS expression and Th17 induced by thymoma may contribute to the development of TAMG.

Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective.

This consensus statement by a panel of neurology experts aimed to provide a practical and implementable guidance document to assist clinicians with the best clinical practice in terms of diagnosis, treatment, and monitoring of late-onset Pompe disease (LOPD). The participating experts consider the clinical suspicion of LOPD by the physician to be of utmost importance in the prevention of diagnostic and therapeutic delay in LOPD patients. A diagnostic algorithm is proposed to facilitate the diagnosis of LOPD in patients presenting with unexplained proximal/axial weakness (with or without respiratory symptoms) or restrictive respiratory insufficiency with hyperCKemia and/or exercise intolerance as the red flag symptoms/signs that raise the index of suspicion for LOPD diagnosis. The diagnosis is based on the subsequent use of dried blood spot (DBS) assay, and the DBS assay can be confirmed by acid alpha-glucosidase (GAA) tissue analysis in leukocytes, fibroblasts, or muscle fibers and/or genetic mutation analysis. Accordingly, experts consider increased awareness among physicians about potential presenting characteristics with a high index of suspicion for LOPD to be crucial to suspect and consider LOPD in the differential diagnosis, while strongly suggesting the use of a diagnostic algorithm combined with DBS assay and confirmatory tests in the timely diagnosis of LOPD and implementation of best practice patterns.

Correlations between radiographic spinopelvic parameters and health-related quality of life: A prospective evaluation of 37 patients with facioscapulohumeral muscular dystrophy.

OBJECTIVE: The purpose of this study was to evaluate the relationship between spinopelvic parameters and health-related quality of life. METHODS: Patients with Facioscapulohumeral muscular dystrophy (FSHD) were asked to volunteer to participate in this study from April 2018 to December 2019. Patient data, including age, sex, body mass index (BMI), and duration of the diagnosis of FSHD were obtained. Short Form (SF-36) questionnaire was completed for all patients. All patients underwent lateral radiography of the whole spine. The radiographic parameters examined were pelvic tilt (PT), pelvic incidence (PI), sacral slope (SS), lumbar lordosis (LL), cervical lordosis (CL), T1 spinopelvic inclination (T1 SPI), thoracic kyphosis (TK), Pelvic incidence- lumbar lordosis (PI-LL) and sagittal vertical axis (SVA). RESULTS: Thirty-seven patients (16 females and 21 males) were included in the study, with a mean age of 39.1 years. The mean duration of diagnosis was 13.5 ± 11.4 years and mean BMI was 24.2 kg/m2. Physical composite score (PCS) was 38.7 and mental composite score (MCS) 60.8 detected. Radiographic analyses included the following: the mean PT was 9.1°, PI 52.1°, SS 43.5°, LL 67.9°, CL 9.8°, T1 SPI -2.5°, TK 23.1°, SVA 37.6 mm. PI-LL was -13.1°. We identified 31 patients with match (left) PI-LL and six patients with mismatch (right) PI-LL. CONCLUSION: Hyperlordosis inlumbar spine, hypolordosis in cervical spine and negative sagittal balance were the most common spinal misalignments in patients with FSHD. These patients have lower composite PCS than composite MCS. There was a significantly negative correlation between LL, PI-LL and PCS. LEVEL OF EVIDENCE: Level IV Cross-sectional study.

Familial Amyloid Polyneuropathy.

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening disease caused by the accumulation of amyloidogenic transthyretin (TTR) protein in tissues. Mutations in TTR gene destabilize TTR protein to misfold from its native tetramer form to amyloidogenic monomer form. In endemic countries, TTR-FAP presents with length-dependent small fiber neuropathy, however in non-endemic countries clinical features can be highly variable. Genetic testing for TTR gene is mandatory for the diagnosis. Demonstrating amyloid deposits in tissues may be necessary for distinguishing symptomatic patients from asymptomatic carriers. Routine follow-up should include a wide range of tests to demonstrate systemic involvement. In recent years, treatment of TTR-FAP has significantly improved with new therapeutic approaches. TTR stabilizers and TTR-gene silencing drugs prevent the progression of the disease. Monoclonal antibodies that target amyloid deposits are currently under development. Early initiation of the treatment is important for better functional outcome.

Turkish version of the Motor Function Measure Scale (MFM-32) forneuromuscular diseases: a cross-cultural adaptation, reliability, and validity study

Background/aim: The Motor Function Measure (MFM-32) is a classification system for ambulant and nonambulant patients with neuromuscular diseases (NMDs). We aimed to translate it into Turkish, culturally adapt it, and test its reliability and validity for Turkish patients with NMDs.Materials and methods: The translation of the 32 items assessing three functional areas: standing position and transfers (D1: 13), axial/proximal (D2: 12), and distal (D3: 7) motor functions was performed according to the established guidelines for cross-cultural adaptation. Totally 51 patients (12.56 ± 8.84 years; F/M 12/39) were tested. Vignos and Brooke scores for the lower and upper extremities, respectively, were used for the validity of the MFM-32-TR items, which were rated on a 4-point Likert scale. Results: The agreement coefficients for interrater reliability were excellent (0.72-0.93) for 10 items, good (0.58-0.77) for 16 items, and moderate (0.42-0.56) for 6 items of the MFM-32-TR. The intertester reliability varied from good to excellent and the intraclass correlation coefficient was 0.76-0.93. The MFM-32-TR positively correlated with Vignos and Brooke scores with coefficients 0.47 to 0.75, indicating concurrent validity.Conclusion: The MFM-32-TR is a reliable and valid outcome measure for the assessment of motor function of people with NMDs in our sociocultural context.

Genotypic and phenotypic presentation of transthyretin-related familial amyloid polyneuropathy (TTR-FAP) in Turkey.

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by mutations of the transthyretin (TTR) gene. The mutant amyloidogenic transthyretin protein causes the systemic accumulation of amyloid fibrils that result in organ dysfunction. TTR-associated FAP is a progressive and fatal disease, if left untreated, and should be considered in the differential diagnosis of any person presenting with a progressive polyneuropathy, particularly with accompanying autonomic involvement. The clinical, electrophysiological, histopathological, and genetic characteristics of 17 patients from Turkey (5 female, 13 male) from nine families with polyneuropathy and mutations in TTR were evaluated. Sequence analysis of the TTR gene revealed five mutations (Val30Met, Glu89Gln, Gly53Glu, Glu54Gly and Gly47Glu). Mean age at disease onset was 40.4 ± 13.9 years (range 21-66 years). The most commonly reported initial complaint was paresthesia in the feet (asymmetric in three patients). Three patients (2 male) with the Glu89Gln mutation presented with carpal tunnel syndrome. Two patients with the Gly53Glu mutation showed episodes of dysarthria and hemiparesis, consistent with this genotype. Seven patients died during the period of follow-up as a result of systemic involvement. Our study suggests that a cohort of patients from Turkey with TTR-FAP exhibits clinical and genetic heterogeneity.