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1.
Gastroenterol Hepatol Bed Bench ; 17(1): 57-63, 2024.
Article in English | MEDLINE | ID: mdl-38737934

ABSTRACT

Aim: In this study, we intend to evaluate the occurrence of small fiber neuropathy in patients with irritable bowel syndrome (IBS). Background: Small fiber neuropathy (SFN) is a sensory neuropathy that results from the degeneration of small Aδ and unmyelinated C fibers. SFN manifests positive symptoms, such as tingling, burning, prickling, and aching, and negative symptoms, including numbness, tightness, and coldness. The SFN coexistence with other comorbidities (e.g., fibromyalgia, inflammatory bowel disease, celiac disease) has been reported in previous studies. Methods: We conducted a cross-sectional study to assess the coexistence of SFN and IBS. Forty-two IBS patients and forty-three healthy individuals were asked to complete the Michigan Neuropathy Screening Instrument (MNSI) questionnaire. Results greater than three (>3) were considered positive. Participants with positive MNSI questionnaire results were examined for any neuropathy signs according to the Utah Early Neuropathy Scale (UENS) examination. The participants with positive results for the questionnaire and examination were checked for the sural and the superficial peroneal nerve conduction study (NCS). Normal NCS represented intact large fibers and the diagnosis of SFN. Results: Ten participants, 7 (16.7 %) in the IBS group and 3 (6.9 %) in the healthy group, had positive results for the questionnaire. Four participants were positive for the examination, with normal NCS, and were classified as SFN-positive. All four SFN diagnoses were from the IBS group. No one in the healthy group was diagnosed with SFN. We could find a significant statistical difference (p<0.05) between the IBS and healthy groups regarding the prevalence of SFN diagnosis. Conclusion: The co-occurrence of SFN and IBS suggests the possibility of a generalized neuropathy syndrome characterized by widespread neuronal impairment. Thus, any peripheral neuropathy symptom in IBS patients (and potentially other chronic pain disorders) should be evaluated for SFN since timely diagnosis and proper treatment result in a better quality of life for the patients.

2.
Eur J Med Res ; 29(1): 171, 2024 Mar 12.
Article in English | MEDLINE | ID: mdl-38475891

ABSTRACT

BACKGROUND: Depression and anxiety are commonly observed in people with multiple sclerosis (pwMS). There is a growing body of literature supporting the hypothesis that personality traits can influence the mood disorders. This study aimed to investigate the personality traits and their relationships with depression and anxiety among pwMS. METHODS: 234 pwMS were involved in this cross-sectional study. Personality traits, depression, and anxiety were assessed using the NEO Five-Factor Inventory (NEO-FFI) and Hospital Anxiety and Depression Scale (HADS), respectively. Pearson's correlation coefficient and generalized linear model were employed to evaluate the relationships between demographic and clinical characteristics, NEO-FFI, and HADS subscales. RESULTS: In pwMS, longer disease duration was significantly associated with lower level of conscientiousness (ß = - 0.23, p = 0.008) and agreeableness (ß = - 0.2, p = 0.01). Moreover, higher expanded disability status scale (EDSS) of pwMS had a significant relationship with higher level of neuroticism (ß = 0.89, p = 0.01). Increased level of neuroticism was significantly correlated with lower level of extraversion (r = - 0.28, p < 0.001), openness (r = - 0.37, p < 0.001), agreeableness (r = - 0.31, p < 0.001), and conscientiousness (r = - 0.45, p < 0.001). PwMS with higher level of conscientiousness showed more extraversion (r = 0.23, p < 0.001), openness (r = 0.61, p < 0.001), and agreeableness (r = 0.41, p < 0.001). Elevated level of neuroticism was significantly associated with higher level of anxiety (ß = 0.47, p < 0.001) and depression (ß = 0.11, p < 0.001) among pwMS. CONCLUSION: The co-occurrence of depression and anxiety is probably associated with neuroticism among pwMS. Additionally, the impact of personality traits extends to influencing key disease aspects such as physical disability and disease duration in MS.


Subject(s)
Depression , Multiple Sclerosis , Humans , Cross-Sectional Studies , Personality , Personality Inventory , Anxiety
3.
medRxiv ; 2024 Feb 13.
Article in English | MEDLINE | ID: mdl-38405817

ABSTRACT

FLVCR1 encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. FLVCR1 is a widely expressed transmembrane protein with plasma membrane and mitochondrial isoforms implicated in heme, choline, and ethanolamine transport. While Flvcr1 knockout mice die in utero with skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia, rare biallelic pathogenic FLVCR1 variants are linked to childhood or adult-onset neurodegeneration of the retina, spinal cord, and peripheral nervous system. We ascertained from research and clinical exome sequencing 27 individuals from 20 unrelated families with biallelic ultra-rare missense and predicted loss-of-function (pLoF) FLVCR1 variant alleles. We characterize an expansive FLVCR1 phenotypic spectrum ranging from adult-onset retinitis pigmentosa to severe developmental disorders with microcephaly, reduced brain volume, epilepsy, spasticity, and premature death. The most severely affected individuals, including three individuals with homozygous pLoF variants, share traits with Flvcr1 knockout mice and Diamond-Blackfan anemia including macrocytic anemia and congenital skeletal malformations. Pathogenic FLVCR1 missense variants primarily lie within transmembrane domains and reduce choline and ethanolamine transport activity compared with wild-type FLVCR1 with minimal impact on FLVCR1 stability or subcellular localization. Several variants disrupt splicing in a mini-gene assay which may contribute to genotype-phenotype correlations. Taken together, these data support an allele-specific gene dosage model in which phenotypic severity reflects residual FLVCR1 activity. This study expands our understanding of Mendelian disorders of choline and ethanolamine transport and demonstrates the importance of choline and ethanolamine in neurodevelopment and neuronal homeostasis.

4.
BMC Neurol ; 24(1): 36, 2024 Jan 22.
Article in English | MEDLINE | ID: mdl-38254066

ABSTRACT

BACKGROUND: There is often a fear of social stigma experienced by people with multiple sclerosis (pwMS), which negatively impacts the quality of their lives (QoL). Currently, no Persian-validated questionnaire is available to assess this issue in pwMS. This study aimed to assess the validaty and reliability of the Persian version of Reece Stigma Scale Multiple Sclerosis (RSS-MS) questionnaire for pwMS. METHOD: This cross-sectional was conducted between January and February 2023 in Isfahan, Iran. The demographic and clinical information and the RSS-MS and Multiple Sclerosis Impact Scale-29 (MSIS-29) questionnaires were recorded from pwMS. The content validity index (CVI) and content validity ratio (CVR) have been used to evaluate validity. To identify the factors supporting the MS-related stigma, an exploratory factor analysis (EFA) was conducted. RESULTS: The present study recruited 194 pwMS. Based on factor analysis, only two factors had eigenvalues ≥ 1.0 and exhibited high internal consistency. The Cronbach's α coefficient for internal consistency of the RSS-MS scale was 0.822. More evidence for the construct validity suggested that having higher levels of stigma is significantly correlated with psychological (r = 0.468, p-value < 0.001) and physical dimensions (r = 0.585, p-value < 0.001) of MSIS-29. Expanded Disability Status Scale, disease duration, and treatment duration did not show a significant correlation with stigma (p-value > 0.05). CONCLUSION: This study indicated that the modified version of the RSS-MS scale in the Persian language showed acceptable validity and reliability for evaluating the stigma among Persian pwMS. Furthermore, this study emphasizes the cruciality of monitoring and addressing stigma among pwMS, as it can potentially enhance medical, psychological, physical, and QoL outcomes.


Subject(s)
Multiple Sclerosis , Quality of Life , Humans , Cross-Sectional Studies , Reproducibility of Results , Social Stigma , Language
5.
Int J Prev Med ; 14: 86, 2023.
Article in English | MEDLINE | ID: mdl-37854985

ABSTRACT

Background: Multiple sclerosis (MS) is a chronic, inflammatory, demyelinating, immune-mediated disease of the central nervous system. It is still unestablished whether heredity correlates with the disease's progression and severity. Methods: This study includes the patients with MS seen in the MS clinic of Kashani Hospital, affiliated with Isfahan University of Medical Sciences, from January 2019 to January 2020. We gathered data regarding the demographic and clinical characteristics, such as type of disease and family history of MS. Patients were grouped based on having relatives with MS. We compared demographic and clinical characteristics between those with a family history of MS (familial MS: FMS) and those without a family history of MS (sporadic MS: SMS). Results: We included 2,929 MS patients, 523 (17.2%) with FMS and 2,406 (82.8%) with SMS. Patients with FMS were found to have active lesions in the thoracic spine more frequently than those with SMS (P = 0.022). We also found differences in the distribution of gender (P = 0.036) and the frequency of having active brain lesions (P = .024) among patients with FMS and SMS. No difference was found between the demographic/clinical characteristics and the number of affected relatives in the family. Conclusions: Significant differences were found among different groups of patients in terms of demographical and clinical characteristics.

6.
Front Neurol ; 14: 1154579, 2023.
Article in English | MEDLINE | ID: mdl-37333000

ABSTRACT

Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegeneration involving motor neurons. The 3-5 years that patients have to live is marked by day-to-day loss of motor and sometimes cognitive abilities. Enormous amounts of healthcare services and resources are necessary to support patients and their caregivers during this relatively short but burdensome journey. Organization and management of these resources need to best meet patients' expectations and health system efficiency mandates. This can only occur in the setting of multidisciplinary ALS clinics which are known as the gold standard of ALS care worldwide. To introduce this standard to the care of Iranian ALS patients, which is an inevitable quality milestone, a national ALS clinical practice guideline is the necessary first step. The National ALS guideline will serve as the knowledge base for the development of local clinical pathways to guide patient journeys in multidisciplinary ALS clinics. To this end, we gathered a team of national neuromuscular experts as well as experts in related specialties necessary for delivering multidisciplinary care to ALS patients to develop the Iranian ALS clinical practice guideline. Clinical questions were prepared in the Patient, Intervention, Comparison, and Outcome (PICO) format to serve as a guide for the literature search. Considering the lack of adequate national/local studies at this time, a consensus-based approach was taken to evaluate the quality of the retrieved evidence and summarize recommendations.

7.
Mol Genet Genomic Med ; 11(2): e2101, 2023 02.
Article in English | MEDLINE | ID: mdl-36374152

ABSTRACT

BACKGROUND: Limb-girdle muscular dystrophy (LGMD) is a non-syndromic muscular dystrophy caused by variations in the genes involved in muscle structure, function and repair. The heterogeneity in the severity, progression, age of onset, and causative genes makes next-generation sequencing (NGS) a necessary approach for the proper diagnosis of LGMD. METHODS: In this article, 26 Iranian patients with LGMD criteria were diagnosed with disease variants in the genes encoding calpain3, dysferlin, sarcoglycans and Laminin α-2. Patients were referred to the hospital with variable distribution of muscle wasting and progressive weakness in the body. The symptoms along with biochemical and EMG tests were suggestive of LGMD; thus the genomic DNA of patients were investigated by whole-exome sequencing including flanking intronic regions. The target genes were explored for the disease-causing variants. Moreover, the consequence of the amino acid alterations on proteins' secondary structure and function was investigated for a better understanding of the pathogenicity of variants. Variants were sorted based on the genomic region, type and clinical significance. RESULTS: In a comprehensive investigation of previous clinical records, 6 variations were determined as novel, including c.1354-2 A > T and c.3169_3172dupCGGC in DYSF, c.568 G > T in SGCD, c.7243 C > T, c.8662_8663 insT and c. 4397G > C in LAMA2. Some of the detected variants were located in functional domains and/or near to the post-translational modification sites, altering or removing highly conserved regions of amino acid sequence.


Subject(s)
Muscular Dystrophies, Limb-Girdle , Muscular Dystrophies , Humans , Iran , Muscular Dystrophies, Limb-Girdle/genetics
8.
Curr J Neurol ; 22(4): 231-237, 2023 Oct 07.
Article in English | MEDLINE | ID: mdl-38425356

ABSTRACT

Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are inherited X-linked disorders resulting from alterations in the dystrophin gene. Genotype-phenotype matching studies have revealed a link between disease severity, the amount of muscle dystrophin, and the extent of mutation/deletion on the dystrophin gene. This study aimed to assess the relationship between genetic alterations in the dystrophin gene and the clinical status of patients with dystrophinopathies among the Iranian population. Methods: This cross-sectional study examined 54 patients with muscle weakness caused by abnormalities in the dystrophin gene at a hospital affiliated to Isfahan University of Medical Sciences, Isfahan, Iran, in 2021. The participants' demographic information, including age, family history of muscle dystrophies, and family history of other medical diseases as well as the type of muscular dystrophy were recorded. Furthermore, the number and region of deleted exons based on dystrophy types were also evaluated using multiplex ligation-dependent probe amplification (MLPA). The patients' gaits were also assessed as using a wheelchair, the presence of waddling gaits, or toe gaits. The patients' clinical status and the coexistence of pulmonary, bulbar, and mental conditions were also examined and compared between the two groups of dystrophinopathies. Results: In this study, 54 patients with dystrophinopathy with the mean age of 16.63 ± 12.10 years were evaluated, of whom 22 (40.7%) and 30 (55.6%) patients were classified as BMD and DMD, respectively. The most affected regions with deleted exons were exons 45-47 (n = 5) and 45-48 (n = 4) in patients with BMD, while exons 45, 48-52, 51-55, and 53 (2 cases per exon) were the most common affected exons in patients with DMD. Further analyses revealed that deletions in exons 45-47 and 51-55 were significantly associated with older and younger ages at the onset of becoming wheelchair-bound in patients with dystrophy, respectively. The hotspot range in both BMD and DMD was within exons 45-55 (n = 15 for each group); 63% of the patients had alterations on the dystrophin gene within this range [30 patients (68.18%) in the BMD group, 15 patients (53.57%) in the DMD group]. Conclusion: Exon deletion was the most common genetic alteration in patients with dystrophinopathies. No significant difference was observed between DMD and BMD regarding the number of deleted exons. Deletions in exons 45-47 and 51-55 were linked to later and earlier onset of becoming wheelchair-bound, respectively.

9.
Brain Sci ; 12(7)2022 Jun 22.
Article in English | MEDLINE | ID: mdl-35884625

ABSTRACT

BACKGROUND: The impairment of limb function and disability are among the most im portant consequences of stroke. To date, however, little research has been done on the early reha bilitation trial (ERT) after stroke in these patients. The purpose of this study was to evaluate the impact of ERT neuromuscular protocol on motor function soon after hemiparetic stroke. The sample included twelve hemiparetic patients (54.3 ± 15.4 years old) with ischemic stroke (n = 7 control, n = 5 intervention patients). ERTwas started as early as possible after stroke and included passive range of motion exercises, resistance training, assisted standing up, and active exercises of the healthy side of the body, in addition to encouraging voluntary contraction of affected limbs as much as possible. The rehabilitation was progressive and took 3 months, 6 days per week, 2-3 h per session. Fu gle-Meyer Assessment (FMA), Box and Blocks test (BBT) and Timed up and go (TUG) assessments were conducted. There was a significantly greater improvement in the intervention group com pared to control: FMA lower limbs (p = 0.001), total motor function (p = 0.002), but no significant difference in FMA upper limb between groups (p = 0.51). The analysis of data related to BBT showed no significant differences between the experimental and control groups (p = 0.3). However, TUG test showed significant differences between the experimental and control groups (p = 0.004). The most important finding of this study was to spend enough time in training sessions and provide adequate rest time for each person. Our results showed that ERT was associated with improved motor function but not with the upper limbs. This provides a basis for a definitive trial.

10.
Front Neurol ; 12: 682622, 2021.
Article in English | MEDLINE | ID: mdl-34512504

ABSTRACT

Objectives: Myasthenia gravis (MG) is an immune-mediated neuromuscular disorder responsive to immunomodulatory treatments. 10-20% of MGs are not responsive to conventional first-line therapies. Here, we sought to investigate the efficacy and safety of rituximab therapy in the treatment of patients with refractory MG. Methods: In a 48-week, multicenter, open-labeled, prospective cohort setting, 34 participants with refractory MG were assigned to receive infusions of Zytux, which is a rituximab biosimilar, according to a validated protocol. Clinical, functional, and quality of life (QoL) measurements were recorded at baseline, and seven further visits using the Myasthenia Gravis Foundation of America (MGFA), Myasthenia Gravis Composite (MGC), Myasthenia Gravis Activities of Daily Living profile (MG-ADL), and Myasthenia Gravis Quality of Life (MGQoL-15) scales. Besides, the post-infusion side effects were systematically assessed throughout the study. Results: The correlation analysis performed by generalized estimating equations analysis represented a significant reduction of MGC, MG-ADL, and MGQoL-15 scores across the trial period. The subgroup analysis based on the patients' clinical status indicated a significant effect for the interaction between time and MGFA subtypes on MG-ADL score, MGC score, and pyridostigmine prednisolone dose, reflecting that the worse clinical condition was associated with a better response to rituximab. Finally, no serious adverse event was documented. Conclusions: Rituximab therapy could improve clinical, functional, and QoL in patients with refractory MG in a safe setting. Further investigations with larger sample size and a more extended follow-up period are warranted to confirm this finding. Clinical Trial Registration: The study was registered by the Iranian Registry of Clinical Trials (IRCT) (Code No: IRCT20150303021315N18).

11.
Muscle Nerve ; 64(1): 37-42, 2021 07.
Article in English | MEDLINE | ID: mdl-33835480

ABSTRACT

INTRODUCTION/AIM: The use of outcome measures is recommended for chronic inflammatory demyelinating polyneuropathy (CIDP). Implications of minimal important differences (MID) to ascertain responder status are unknown. The reliability of patient-reported treatment-response in relation to clinically relevant change is also unknown. METHODS: We retrospectively studied 72 subjects with "definite" or "probable" CIDP evaluated at pre-specified time-intervals pre- and post-treatment. We derived MID and the minimum detectable change with 95% confidence intervals (MDC95 ) for four scales. Scale sensitivities were determined with applicable MID-defined cutoffs (aMIDc), to detect subjects with self-identifying treatment response through a single question. RESULTS: The use of MID was not valid for the Medical Research Council Sum Score, as MDC95 > MID. The aMIDc for the Overall Neuropathy Limitation Score (ONLS) was 1 (sensitivity: 84.7%). The aMIDc for the centile Inflammatory Rasch-built Overall Disability Scale (cI-RODS) was 8 (sensitivity: 62.3%). The aMIDc for grip strength was 4 kg (sensitivity: 79.1%). MID-defined amelioration of any one scale among ONLS, cI-RODS, or grip strength, significantly improved sensitivity to detect treatment-responders compared with the ONLS alone (McNemar test: P = .008, odds ratio: 3.36 [95% confidence interval: 1.44-7.86]). Patient-reported improvement was highly reliable in relation to MID-defined amelioration on any one scale. DISCUSSION: In subjects with CIDP, MID-defined amelioration of any one of three commonly used outcome measures offers optimum relevance and sensitivity to detect self-identifying treatment-responders. Patient reliability to single-question ascertainment of response is high in relation to MID-defined clinical relevance. These findings support use of multiple outcome measures in CIDP monitoring and justify enhanced patient involvement in the process.


Subject(s)
Immunization, Passive/trends , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/diagnosis , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/therapy , Self Report , Adult , Aged , Female , Humans , Immunization, Passive/methods , Male , Middle Aged , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/immunology , Retrospective Studies , Treatment Outcome
12.
Curr J Neurol ; 20(2): 56-63, 2021 Apr 04.
Article in English | MEDLINE | ID: mdl-38011471

ABSTRACT

Background: Peripheral nerve ultrasound (US) has been used as a promising diagnosing technique for peripheral nerve disorders. This study aimed to compare the US findings of Guillain-Barre syndrome (GBS) with chronic inflammatory demyelinating polyneuropathy (CIDP). Methods: This case-control study was done on 25 patients with GBS at 3 weeks after onset of disease and 25 patients with CIDP. Demographic information and US results of median nerve at 2 points, ulnar nerve at 3 points, and tibial and peroneal nerves were collected. Results: Left median nerve diameter in patients with CIDP with the mean of 0.141 ± 0.047 was more than GBS group with the mean of 0.095 ± 0.034 (P < 0.001). Both sides of median nerve diameter in patients with CIDP were higher than patients with GBS (P < 0.050), but in the left side, it was more in patients with CIDP (P = 0.003). Conclusion: The diameter and circumference of median, ulnar, and tibial nerves in forearm and elbow of patients with CIDP are more than patients with GBS; therefore, it may be possible to use US findings based on these differences in diagnosis and differentiation of the two diseases.

13.
Br J Hosp Med (Lond) ; 81(7): 1-9, 2020 Jul 02.
Article in English | MEDLINE | ID: mdl-32730155

ABSTRACT

The search for autoantibodies in patients with acute and chronic neuropathies has become widespread in neurological practice. These tests are more routinely available and therefore are more commonly requested in larger hospitals with neuroscience centres, although they are now also regularly requested from district general hospital settings, including by non-neurologists. However, the clinical value of these frequently expensive tests is often unclear and their impact on management not always obviously beneficial. This article reviews the main immunological tests used to search for specific autoantibodies in the setting of neuropathy and discusses their potential diagnostic importance, together with the eventual therapeutic implications of results obtained.


Subject(s)
Autoantibodies/immunology , Peripheral Nervous System Diseases/immunology , Peripheral Nervous System Diseases/pathology , Acute Disease , Chronic Disease , Humans , Paraneoplastic Syndromes/immunology , Paraneoplastic Syndromes/pathology , Paraproteinemias/immunology , Paraproteinemias/pathology , Sjogren's Syndrome/immunology , Sjogren's Syndrome/pathology
14.
Artif Intell Med ; 106: 101876, 2020 06.
Article in English | MEDLINE | ID: mdl-32593393

ABSTRACT

Recent developments in medical image analysis techniques make them essential tools in medical diagnosis. Medical imaging is always involved with different kinds of uncertainties. Managing these uncertainties has motivated extensive research on medical image classification methods, particularly for the past decade. Despite being a powerful classification tool, the sparse representation suffers from the lack of sufficient discrimination and robustness, which are required to manage the uncertainty and noisiness in medical image classification issues. It is tried to overcome this deficiency by introducing a new fuzzy discriminative robust sparse representation classifier, which benefits from the fuzzy terms in its optimization function of the dictionary learning process. In this work, we present a new medical image classification approach, fuzzy discriminative sparse representation (FDSR). The proposed fuzzy terms increase the inter-class representation difference and the intra-class representation similarity. Also, an adaptive fuzzy dictionary learning approach is used to learn dictionary atoms. FDSR is applied on Magnetic Resonance Images (MRI) from three medical image databases. The comprehensive experimental results clearly show that our approach outperforms its series of rival techniques in terms of accuracy, sensitivity, specificity, and convergence speed.


Subject(s)
Algorithms , Magnetic Resonance Imaging , Databases, Factual , Humans
15.
Muscle Nerve ; 62(2): 167-175, 2020 08.
Article in English | MEDLINE | ID: mdl-31943276

ABSTRACT

Small fiber neuropathy (SFN) is being recognized with increasing frequency in neuromuscular practice due to improved diagnostic techniques. Although there are some common etiologies, up to one-third of cases are considered idiopathic. In recent years, several disorders have unexpectedly been reported in association with SFN, on clinical grounds and complementary investigations, including quantitative sensory testing, intraepidermal nerve fiber density and confocal corneal microscopy. Knowledge of these disorders is important in clinical practice as increased awareness enables prompt diagnosis of SFN in these settings and early optimal therapeutic management of affected patients. Furthermore, these new developments may lead to a better understanding of the pathophysiologic mechanisms underlying SFN in these different disorders as well as, in some cases, an expanded spectrum of affected organs and systems. This article reviews these reported associations, their possible pathophysiologic bases, and the potential resulting management implications.


Subject(s)
Amyotrophic Lateral Sclerosis/complications , Fibromyalgia/complications , Guillain-Barre Syndrome/complications , Parkinson Disease/complications , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/complications , Small Fiber Neuropathy/complications , Biopsy , Cornea/innervation , Cornea/pathology , Ehlers-Danlos Syndrome/complications , Epidermis/innervation , Epidermis/pathology , Evoked Potentials , Humans , Lewy Body Disease/complications , Microscopy, Confocal , Nerve Fibers, Unmyelinated/pathology , Papillomavirus Vaccines/adverse effects , Psychophysics , REM Sleep Behavior Disorder/complications , Small Fiber Neuropathy/chemically induced , Small Fiber Neuropathy/diagnosis , Small Fiber Neuropathy/pathology
16.
Muscle Nerve ; 61(2): 182-186, 2020 02.
Article in English | MEDLINE | ID: mdl-31650551

ABSTRACT

INTRODUCTION: The comparative value and suitability of outcome measures are uncertain in chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS: We studied 35 patients with CIDP using the Overall Neuropathy Limitation Scale (ONLS), the inflammatory Rasch-built Overall Disability Scale (I-RODS), and the Medical Research Council Sum Score (MRCSS). RESULTS: Significant associations were determined between initial deficit and ONLS score (P = .002) and MRCSS improvement (P = .001) but not I-RODS score. A strong inverse correlation was observed between disease duration and I-RODS score(P = .002) but not ONLS/MRCSS improvement. A strong association was observed between age ≤ 40 years and I-RODS score (P = .001) but not ONLS/MRCSS improvement. When minimum important differences were used, ONLS and I-RODS sensitivities were comparable (P = .19). DISCUSSION: Overall Neuropathy Limitation Scale and I-RODS are equally sensitive in identifying change. Ease of administration, better ability to detect improvement in severe disease, and greater amplitude responses throughout the disease and in older patients favor the ONLS. The I-RODS appears more useful in early disease/younger patients.


Subject(s)
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/diagnosis , Adult , Age Factors , Aged , Disability Evaluation , Female , Humans , Male , Middle Aged , Outcome Assessment, Health Care , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/therapy , Reproducibility of Results , Retrospective Studies , Sensitivity and Specificity , Treatment Outcome
17.
Brain Commun ; 1(1): fcz011, 2019.
Article in English | MEDLINE | ID: mdl-32954258

ABSTRACT

Variants in MCM3AP, encoding the germinal-centre associated nuclear protein, have been associated with progressive polyneuropathy with or without intellectual disability and ptosis in some cases, and with a complex phenotype with immunodeficiency, skin changes and myelodysplasia. MCM3AP encoded protein functions as an acetyltransferase that acetylates the replication protein, MCM3, and plays a key role in the regulation of DNA replication. In this study, we report a novel variant in MCM3AP (p.Ile954Thr), in a family including three affected individuals with characteristic features of Charcot-Marie-Tooth neuropathy and multiple sclerosis, an inflammatory condition of the central nervous system without known genetic cause. The affected individuals were homozygous for a missense MCM3AP variant, located at the Sac3 domain, which was predicted to affect conserved amino acid likely important for the function of the germinal-centre associated nuclear protein. Our data support further expansion of the clinical spectrum linked to MCM3AP variant and highlight that MCM3AP should be considered in patients with accompaniment of recessive motor axonal Charcot-Marie-Tooth neuropathy and multiple sclerosis.

18.
J Bodyw Mov Ther ; 22(4): 1004-1012, 2018 Oct.
Article in English | MEDLINE | ID: mdl-30368324

ABSTRACT

BACKGROUND: Stroke is the biggest cause of disability in adults. Spasticity is a primary impairment of stroke with a highly variable prevalence. In the present research, we aimed to determine the impact of functional stretching exercises on functional outcomes in stroke patients. METHODS: Thirty stroke patients were randomized into two groups-Experimental group and control group for the purposes of the study. The subjects in the experimental group participated in a functional stretching training program at the rehabilitation center thrice a week for four weeks. The subjects in both groups were evaluated in 3 intervals, once at baseline, once at the end of the program, and once at 2 months following the program. Clinical assessments, such as measuring spasticity, were conducted using the Modified Modified Ashworth Scale (MMAS). Functional outcomes were also evaluated, using the Timed Up and Go (TUG) test, as well as the Timed 10-Meter Walk Test (WTT). Friedman test in SPSS version 22.0 was used to analysis the response variables with respect to each stage of evaluation. Spearman rank correlation was also used to measure correlation among clinical assessments and functional outcomes. RESULTS: The comparison between two groups showed significant differences only in the Modified Modified Ashworth Scale and Visual Analogue Scale (VAS) post treatment. The experimental group showed significant differences in the MMAS (p = 0.002), WTT (p < 0.001), and TUG (p < 0.001) scores. Nevertheless, the scores of the control group were not significantly different in different stages of evaluation. CONCLUSION: The findings of the study suggest that using functional stretching exercises can improve functional outcomes in chronic spastic stroke patients.


Subject(s)
Muscle Spasticity/rehabilitation , Muscle Stretching Exercises/methods , Stroke Rehabilitation/methods , Aged , Chronic Disease , Female , Humans , Male , Middle Aged , Pain Measurement
19.
J Stroke Cerebrovasc Dis ; 27(7): 1733-1742, 2018 Jul.
Article in English | MEDLINE | ID: mdl-29706442

ABSTRACT

BACKGROUND: Following spasticity, neural and mechanical changes of the paretic muscle often occur, which affect the muscle function. The aim of this study was to investigate the effect of functional stretching exercises on neural and mechanical properties of the spastic muscle in patients with stroke. MATERIALS AND METHODS: This study was a single-blinded, randomized control trial. Forty five patients with stroke (experimental group: n = 30; control group: n = 15) participated in this study. Subjects in the experimental group participated in a functional stretching program 3 times a week for 4 weeks. Subjects in both groups were evaluated before the training, at the end of training, and then during a 2-month follow-up. Neural properties, including H-reflex latency and Hmax/Mmax ratio, were acquired. Mechanical properties, including fascicle length, pennation angle, and muscle thickness in the spastic medial gastrocnemius muscle, were evaluated. Repeated measure analysis of variance was used in the analysis. RESULTS: Time by group interaction in the pennation angle (P = .006), and in muscle thickness (P = .030) was significant. The results indicated that the H-reflex latency (P = .006), pennation angle (P < .001), and muscle thickness (P = .001) were altered after stretching training program and these changes were at significant level after 2-month follow-up. CONCLUSION: The results indicated that the use of functional stretching exercises can cause significant differences in neural and mechanical properties of spastic medial gastrocnemius muscle in patients with chronic stroke.


Subject(s)
Muscle Spasticity/physiopathology , Muscle Spasticity/therapy , Muscle Stretching Exercises , Muscle, Skeletal/physiopathology , Stroke Rehabilitation , Stroke/physiopathology , Analysis of Variance , Ankle/physiopathology , Biomechanical Phenomena , Chronic Disease , Female , Follow-Up Studies , H-Reflex , Humans , Male , Middle Aged , Muscle Spasticity/etiology , Muscle Spasticity/pathology , Muscle, Skeletal/diagnostic imaging , Muscle, Skeletal/pathology , Organ Size , Single-Blind Method , Stroke/complications , Stroke/diagnostic imaging , Stroke/pathology , Treatment Outcome
20.
Adv Biomed Res ; 7: 26, 2018.
Article in English | MEDLINE | ID: mdl-29531924

ABSTRACT

BACKGROUND: Radicular pain is one of the most common forms of chronic pain in the world, which has challenges about effective medical therapy. The aim of this study was to evaluate the effect of pregabalin (PGB) and metformin (Met) on subacute and chronic radiculopathy. MATERIALS AND METHODS: This double-blind prospective clinical trial was performed on 71 patients with subacute and chronic cervical and lumbosacral radiculopathy. Group A was treated with PGB 75 mg daily while Group B was treated with PGB 75 mg daily and Met 500 mg daily for 3 months. Finally, the pain score in both groups was evaluated based on visual analog scale (VAS) and numerical scale pain. RESULTS: The results showed a significant reduction in VAS and pain severity in both groups but this reduction in the terms of VAS (47.79% vs. 46.48%, P = 0.125) and pain severity (47.1% vs. 39.2%, P = 0.264) was more in treated patients with PGB and Met as compared to PGB group while total pain experience (53.5% vs. 49.1%, P = 0.464) and interference with daily function (57.1% vs. 50.61%, P = 0.726) were more in patients treated with PGB alone. CONCLUSION: Our results showed that PGB and PGB + Met reduced pain intensity and interference with daily function while we did not observe significant differences between two groups. PGB alone would have the potentiality to become a simple and economic means to decrease radicular pain.

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