RESUMO
Glycogen storage diseases (GSDs) are a group of metabolic disorders affecting glycogen metabolism, with polyglucosan body myopathy type 1 (PGBM1) being a rare variant linked to RBCK1 gene mutations. Understanding the clinical diversity of PGBM1 aids in better characterization of the disease. Two unrelated Iranian families with individuals exhibiting progressive muscle weakness underwent clinical evaluations, genetic analysis using whole exome sequencing (WES), and histopathological examinations of muscle biopsies. In one case, a novel homozygous RBCK1 variant was identified, presenting with isolated myopathy without cardiac or immune involvement. Conversely, the second case harbored a known homozygous RBCK1 variant, displaying a broader phenotype encompassing myopathy, cardiomyopathy, inflammation, and immunodeficiency. Histopathological analyses confirmed characteristic skeletal muscle abnormalities consistent with PGBM1. Our study contributes to the expanding understanding of RBCK1-related diseases, illustrating the spectrum of phenotypic variability associated with distinct RBCK1 variants. These findings underscore the importance of genotype-phenotype correlations in elucidating disease mechanisms and guiding clinical management. Furthermore, the utility of next-generation sequencing techniques in diagnosing complex neurogenetic disorders is emphasized, facilitating precise diagnosis and enabling tailored genetic counseling for affected individuals and their families.
RESUMO
This study aimed to evaluate the efficacy of Duloxetine on electrodiagnostic findings of Paclitaxel-induced peripheral neuropathy in patients with breast cancer. This randomized, double-blind clinical trial was conducted on 40 patients with breast cancer who received Paclitaxel as their first chemotherapy session. All the patients were randomly allocated into two groups, intervention (20 subjects) and placebo (20 subjects). The intervention group received 30 mg duloxetine/day in the first week, followed by 60 mg (twice daily) until 8 weeks. The patient neurotoxicity questionnaire (PNQ) was used to evaluate the severity of neuropathy. Nerve conduction study was also performed. The evaluations were performed at the baseline and 8 weeks after the treatment. Out of 20 subjects in the placebo group, 10 (50%) patients had neurotoxicity (two milds, three moderate, four severe, and one incapacitated), according to PNQ. However, in the duloxetine group, two patients had mild neurotoxicity ( P = 0.03). Significant differences between groups related to the mean of Median Sensory Latency ( P <0.001), Median Motor Latency ( P < 0.001), and Median Motor velocity ( P = 0.001) were reported. However, the relative risk of polyneuropathy between the two groups (relative risk: 1) was not significant. Regarding the results, duloxetine could be an effective treatment for preventing paclitaxel-induced peripheral neuropathy in patients with breast cancer, and an electrodiagnostic study confirmed this effect.
Assuntos
Neoplasias da Mama , Síndromes Neurotóxicas , Doenças do Sistema Nervoso Periférico , Humanos , Feminino , Paclitaxel/uso terapêutico , Cloridrato de Duloxetina/efeitos adversos , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Neoplasias da Mama/tratamento farmacológicoRESUMO
BACKGROUND: Intra articular (IA) injection of platelet-rich plasma (PRP) and hyaluronic acid (HA) are of the new methods in the management of hip osteoarthritis (OA). The aim of this study was to compare the effectiveness of IA injections of PRP, HA and their combination in patients with hip OA. HA and PRP are two IA interventions that can be used in OA in the preoperative stages. Due to the different mechanisms of action, these two are proposed to have a synergistic effect by combining. METHODS: This is a randomized clinical trial with three parallel groups. In this study, patients with grade 2 and 3 hip OA were included, and were randomly divided into three injection groups: PRP, HA and PRP + HA. In either group, two injections with 2 weeks' interval were performed into the hip joint under ultrasound guidance. Patients were assessed before the intervention, 2 months and 6 months after the second injection, using the visual analog scale (VAS), Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), and Lequesne questionnaires. RESULTS: One hundred five patients were enrolled randomly in HA, PRP and PRP + HA groups. All three groups showed significant improvement in WOMAC, VAS, and Lequesne at 2 months and 6 months compared with baseline. Comparison of the 3 groups demonstrated significant differences regarding WOMAC and Lequesne total scores and the activities of daily living (ADL) subscale of Lequesne (P = 0.041, 0.001 and 0.002, respectively), in which the observed improvement at 6th month was significantly higher in the PRP + HA and PRP groups compared to the HA group. CONCLUSION: Although all 3 interventions were associated with improvement of pain and function in patients with hip OA, the therapeutic effects of PRP and PRP + HA injections lasted longer (6 months), and the effects of these two interventions on patients' performance, disability, and ADL were superior to HA in the long run. Moreover, the addition of HA to PRP was not associated with a significant increase in the therapeutic results. TRIAL REGISTRATION: The study was registered at Iranian Registry of Clinical Trials (IRCT) website http://www.irct.ir/ , a WHO Primary Register setup, with the registration number of IRCT20130523013442N30 on 29/11/2019.
Assuntos
Osteoartrite do Quadril , Plasma Rico em Plaquetas , Atividades Cotidianas , Humanos , Ácido Hialurônico/uso terapêutico , Injeções Intra-Articulares , Irã (Geográfico) , Peso Molecular , Osteoartrite do Quadril/tratamento farmacológico , Osteoartrite do Quadril/terapia , Resultado do Tratamento , Ultrassonografia de IntervençãoRESUMO
The etiology of polyneuropathies varies in the pediatric population, where hereditary or metabolic disorders are far more common than in adults. However, treatable polyneuropathies, also prevalent in these settings, are those to prioritize. Moreover, diagnosing subacute and chronic symptoms in children can be challenging compared to adults. Therefore, selecting the best and most relevant laboratory investigations and paraclinical studies is critical. This taskcan be relatively challenging in countries with limited resources or insurance coverage. This study describe the various types of polyneuropathies found in children and their characteristics and suggest an algorithm for using the best laboratory tests in the context of the Iranian healthcare system.
RESUMO
Background: Pediatric neurorehabilitation has recently employed virtual reality (VR) technologies as a platform to design and implement novel modalities. Aims: To evaluate the feasibility of a multi-component VR-based program on motor skills and functional postural control for children with hemiplegic cerebral palsy (HCP). Methods: A single-case-experimental design was conducted on eight children with HCP (12.33 ± 4.71 years and GMFCS= II, I). The VR-based program consisted of 3 sessions per week for four weeks. Timed Up and Go (TUG) test, Functional Reach Test (FRT), Pediatric Balance Scale (PBS), Activities Scale for Kids (ASK), ABILHAND-Kids, and Box and Block Test (BBT) were used to evaluate functional changes. Outcomes and results: Statistical analysis showed that improvements in functional postural control were significant on at least one balance measure for seven out of eight participants during the intervention phase. For all participants, a significant increase was observed in the BBT scores. Before-after intervention analysis revealed statistically significant improvements in PBS (z = -2.52, p ≤ 0.01), ABILHAND-Kids (z = -2.25, p ≤ 0.01), and ASK (z = -2.38, p ≤ 0.01). Conclusions and implications: This study provided early evidence of the effectiveness of the multi-component VR-based program in children with HCP. However, future studies with randomized controlled trial design are needed to evaluate the long-term effects and compare them with conventional rehabilitation practice.
RESUMO
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare inherited autosomal recessive disease due to bi-allelic mutations in the ASAH1 gene. SMA-PME is characterized by progressive muscle weakness from three to seven years of age, accompanied by epilepsy, intractable seizures, and sometimes sensorineural hearing loss. To the best of our knowledge, 47 cases have been reported. The present study reports five patients from four different families affected by SMA-PME characterized by progressive myoclonic epilepsy, proximal weakness, and lower motor neuron disease, as proven by electrodiagnostic studies. Genetic analysis identified two different mutations in the ASAH1 (NM_177924.4) gene, a previously reported pathogenic variant, c.125C>T (p.Thr42Met), and a novel likely pathogenic variant c.109C>A (p.Pro37Thr). In addition to reporting a novel pathogenic variant in the ASAH1 gene causing SMA-PME disease, this study compares the signs, phenotypic, and genetic findings of the case series with previous reports and discusses some symptomatic treatments.
Assuntos
Doença dos Neurônios Motores , Atrofia Muscular Espinal , Epilepsias Mioclônicas Progressivas , Humanos , Epilepsias Mioclônicas Progressivas/genética , Epilepsias Mioclônicas Progressivas/diagnóstico , Epilepsias Mioclônicas Progressivas/patologia , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/genética , Atrofia Muscular Espinal/terapia , MutaçãoRESUMO
Background: Pompe disease, also denoted as acid maltase or acid α-glucosidase deficiency or glycogen storage disease type II, is a rare, autosomal recessive lysosomal storage disorder. Several reports have previously described Pompe disease in Iran and considering increased awareness of related subspecialties and physicians, the disease's diagnosis is growing. Objective: This guideline's main objective was to develop a national guideline for Pompe disease based on national and international evidence adapting with national necessities. Methods: A group of expert clinicians with particular interests and experience in diagnosing and managing Pompe disease participated in developing this guideline. This group included adult neurologists, pediatric neurologists, pulmonologists, endocrinologists, cardiologists, pathologists, and physiatrists. After developing search terms, four authors performed an extensive literature review, including Embase, PubMed, and Google Scholar, from 1932 to current publications before the main meeting. Before the main consensus session, each panel member prepared an initial draft according to pertinent data in diagnosis and management and was presented in the panel discussion. Primary algorithms for the diagnosis and management of patients were prepared in the panel discussion. The prepared consensus was finalized after agreement and concordance between the panel members. Conclusion: Herein, we attempted to develop a consensus based on Iran's local requirements. The authors hope that disseminating these consensuses will help healthcare professionals in Iran achieve the diagnosis, suitable treatment, and better follow-up of patients with infantile-onset Pompe disease and late-onset Pompe disease.
RESUMO
PURPOSE: Few papers have studied the objective effects of PRP on cartilage. In this study, we investigated the effect of PRP on cartilage characteristics by special MRI sequencing in knee osteoarthritis (IRCT registration number: 2014020413442N6). PATIENTS AND METHODS: In this double blind randomized clinical trial, patients with bilateral knees osteoarthritis-grade 1, 2, and 3 were included in the study. Each patient's knees were randomly allocated to either control or treatment groups. PRP was injected in two sessions with 4 week intervals in PRP group. The VAS (visual analog scale) and WOMAC (Western Ontario and McMaster Universities Arthritis Index) were utilized and MRI was performed for all patients, before, and 8 months after treatment. The MRI sequences taken were transverse 3D TRUFISP and coronal and sagittal fat saturated proton-density. Imaging was scored according to four cartilage characteristics. RESULTS: 46 knees (from 23 patients) were included in this study. 23 knees in the case group and 23 knees in control group were studied. All patients were female with mean age of 57.57±5.9 years. Mean total WOMAC and VAS changes before and after treatment in control group were 11.61±8.5 and 1.3±1.1 respectively. In PRP group, mean total WOMAC and VAS changes showed better improvement with 20±12.3 and 3.2±1.6 respectively (P-value <0.05). In PRP group, all of the radiologic variables (patellofemoral cartilage volume, synovitis and medial and lateral meniscal disintegrity), with the exception of subarticular bone marrow abnormality, had significant improvement (P-value <0.05). In a comparison between the two groups, patellofemoral cartilage volume and synovitis had significantly changed in the PRP group (P-value <0.05). CONCLUSION: In this study, in addition to the effect of PRP on VAS and WOMAC, there was a significant effect on radiologic characteristics (patellofemoral cartilage volume and synovitis). For further evaluation, a longer study with a larger sample size is recommended.
RESUMO
Aim: The aim of the study was to carry out a review of published studies on various platelet products in Iranian studies. Materials & methods: Electronic databases were searched for relevant articles. Two review authors independently extracted data via a tested extraction sheet, and disagreements were resolved by a meeting with a third review author. Results: Bone disorders (25%), wound and fistula (16%), dental and gingival disorders (14%) and osteoarthritis (11%) have more relative frequency based on different fields. Conclusion: The necessity of pursuing standard protocols in the preparation of platelet products, stating the precise content of platelets and growth factors, and long-term follow-up of study subjects were the most important points in Iranian studies.
RESUMO
BACKGROUND: Evidence-based medicine (EBM) is a new approach to medicine which can guide clinical services toward effective and beneficial results with the least side effects or errors. Up to now, there have been few available articles about specialists' EBM status, specifically the status of physiatrists in the area of EBM. OBJECTIVE: To determine the present status of physiatrists' attitudes, knowledge and skill in the area of EBM and the existing obstacles. METHODS: The cross-sectional study was performed in 2014 among physiatrists in Iran. The valid and reliable questionnaire contained 25 questions in 8 fields including demographic and professional information, point of view regarding EBM, familiarity with databases, educational history and information about EBM, use of scientific resources, scientific evidence usage, and the amount of access to resources. Final analysis of the questionnaires was done using SPSS version 16. RESULTS: One hundred twenty-eight questionnaires were completed (response percentage 52.2%). In total, 48.4% specialists had attended EBM workshops and 89.6% of people were familiar with medical search engines. The amount of familiarity with databases was mostly with MEDLINE/PubMed (52.3%). Respondents mainly had a positive point of view towards EBM. Those who had access to databases at work or somewhere out of home had a more positive attitude (p=0.002). Those who had attended EBM workshops and members of faculty also had more positive attitudes (p=0.003 and p=0.01, respectively). Around 70% of responders had adequate knowledge regarding EBM. Physicians, members of faculty and participants who had spent more time on research, reviewed articles and attended workshops had more knowledge (p=0.001). There were three major obstacles recognized: An insufficient amount of knowledge regarding the principles, advantages and applications of EBM, difficulty with gaining access to associated databases and an insufficient amount of activity in judging and analyzing the related articles. CONCLUSION: Results from our study revealed that although there is a significant number of physiatrists who are familiar with the practicality of EBM, they are still not familiar enough with its concepts and applications.
RESUMO
BACKGROUND: This study was to evaluate the effect of hamate and scaphoid bone mobilization alongside splinting in women with carpal tunnel syndrome. METHODS: In this randomized clinical trial, 40 participants were randomly assigned into 2 groups. The intervention group received splinting with scaphoid and hamate mobilization, while the control group received splinting only. Outcome variables were pain (based on visual analogue scale), symptom severity and functional status (based on Boston questionnaire), and nerve conduction study measured before and 10 weeks after the treatments. RESULTS: At the end of study, both groups showed an improvement in pain and symptom severity, functional status as well as median nerve conduction study. Although there was no statistically significant difference between groups regarding changes in median nerve sensory and motor distal latencies; the improvement was significantly higher in pain and symptom severity as well as functional status in mobilization group (P-Value < 0.05). CONCLUSIONS: Hamate and scaphoid mobilization can be used as an effective option in women with mild to moderate carpal tunnel syndrome. Further investigation is required for determining long-term effects and cost-effectiveness of mobilization in carpal tunnel syndrome.
RESUMO
INTRODUCTION: Knee osteoarthritis (OA) is the most common articular disease. Different methods are used to alleviate the symptoms of patients with knee OA, including analgesics, physical therapy, exercise prescription, and intra-articular injections (glucocorticoids, hyaluronic acid [HA], etc). New studies have focused on modern therapeutic methods that stimulate cartilage healing process and improve the damage, including the use of platelet-rich plasma (PRP) as a complex of growth factors. Due to the high incidence of OA and its consequences, we decided to study the long-term effect of intraarticular injection of PRP and HA on clinical outcome and quality of life of patients with knee OA. METHOD: This non-placebo-controlled randomized clinical trial involved 160 patients affected by knee OA, grade 1-4 of Kellgren-Lawrence scale. In the PRP group (n = 87), two intra-articular injections at 4-week interval were applied, and in the HA group (n = 73), three doses of intra-articular injection at 1-week interval were applied. All patients were prospectively evaluated before and at 12 months after the treatment by Western Ontario and McMaster Universities Arthritis Index (WOMAC) and SF-36 questionnaires. The results were analyzed using SPSS 16.1 software (RCT code: IRCT2014012113442N5). RESULTS: At the 12-month follow-up, WOMAC pain score and bodily pain significantly improved in both groups; however, better results were determined in the PRP group compared to the HA group (P < 0.001). Other WOMAC and SF-36 parameters improved only in the PRP group. More improvement (but not statistically significant) was achieved in patients with grade 2 OA in both the groups. CONCLUSION: This study suggests that PRP injection is more efficacious than HA injection in reducing symptoms and improving quality of life and is a therapeutic option in select patients with knee OA who have not responded to conventional treatment.
RESUMO
We designed a randomized clinical trial with control group, to investigate the effects of platelet rich plasma (PRP) on pain, stiffness, function and quality of life in patients with knee osteoarthritis. Patients were randomly divided in two groups. For both groups of participants, therapeutic exercise was prescribed. In the PRP group, two courses of leukocyte rich PRP (5.6 fold higher platelet concentration) with a 4-week interval was injected. For each participant, Western Ontario and McMaster University's Arthritis Index (WOMAC) and the SF-36 questionnaire (Farsi version) were filled at the baseline and 6 months after treatments. Thirty-one patients in the PRP group and 31 patients in the control group were studied. Mean changes of total WOMAC, physical component summery and mental component summery of Short Form-36 in PRP group showed better improvement than control group (P<0.05). This study showed that intra articular PRP knee injection combined with therapeutic exercise can be more effective in pain reduction and improvement of stiffness and quality of life, compared with therapeutic exercise alone.
RESUMO
Background. New studies in the management of knee osteoarthritis have focused on modern therapeutic methods stimulating cartilage healing process. In the present study, we evaluated the effects of 2 courses of leucocyte-rich PRP (LR-PRP) injections on patients' QOL and functions and also the relationship between the PRP concentration and mentioned variables. Material and Methods. Sixty-five patients were evaluated. For each participant, WOMAC and the native (Farsi) edition of the SF-36 questionnaire were filled. Two courses of LR-PRP injections with 4-week interval were used. After 6 months, SF-36 and WOMAC questionnaires were filled again for each patient. Results. 60 patients were included in the final analysis. The mean platelet concentrations and white blood cell in PRP was 5-fold increase and 220 per microliter, respectively. The mean total WOMAC revealed significant change (P = 0.001). In SF-36, the mean changes of 2 major physical and mental domains were meaningful (P = 0.001). Discussion. In our study, 2 injections of PRP, with 4-week interval, improved the pain, stiffness, and functional capacity. Improvements in QOL (both PCS and MCS) were meaningful after injections. These changes were more significant in physical domains. PRP injection may be an alternative therapy in selective patients resistant to current nonsurgical treatments of knee osteoarthritis.
Assuntos
Atitude do Pessoal de Saúde , Competência Clínica , Medicina Baseada em Evidências/educação , Fisiatras/educação , Adulto , Estudos Transversais , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Irã (Geográfico) , Masculino , Fisiatras/estatística & dados numéricos , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Accessory Deep Peroneal Nerve (ADPN) is an anatomic variation that can potentially cause disturbance in electrodiagnostic studies. This anomaly could be detected by nerve conduction studies. There are no recent updates about prevalence of this anatomic variation. Electrodiagnostic medicine clinic is the best environment for detecting presence and prevalence of this nerve, so present study enrolled. MATERIALS & METHODS: In this cross sectional descriptive study that take place from March 2009 to July 2010, 230 cases comprising 460 legs referred for electrodiagnostic studies of upper limbs problems participated in the study. Compound muscle action potential (CMAP) and Nerve conduction Velocity (NCV) of Deep Peroneal Nerve (DPN) were measured by using EMG machine by stimulating DPN at knee, ankle and lateral malleolous areas accordingly, with recording from extensor digitorum brevis muscle. Results were analyzed and conclusion made. RESULTS: The study population included 120 females (52%) and 110 (47%) males with mean age of 42.1 ± 13.5 years. ADPN was detected in 28 patients (12%). Among them,10(17.9%) had bilateral ADPN and in remained 18 cases (82.1%) APN was unilateral. In 8 patients there was no recorded CMAP from EDB by proximal and distal stimulation implying EDB agenesis. Gender distribution was similar which means half of the cases (14 patients) belonged to each gender. CONCLUSION: The prevalence of ADPN in this study was 12.2%, (17.9% bilateral and 82.1% unilateral).