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1.
Curr J Neurol ; 22(3): 155-161, 2023 Jul 06.
Article in English | MEDLINE | ID: mdl-38011411

ABSTRACT

Background: Dysphagia can be a life-threatening issue for post-stroke patients, with aspiration pneumonia (AP) being a common risk. However, there is hope through the potential combination of transcranial direct current stimulation (tDCS) and classical behavior therapy. Our study aims to investigate the effectiveness of this combination in diminishing the risk of AP in patients with dysphagia who suffered from stroke. Methods: In this randomized, parallel-group, blinded clinical trial, 48 patients were allocated into the sham group (speech therapy + 30 seconds of tDCS) and the real group (speech therapy + 20 minutes of tDCS). We used the Mann Assessment of Swallowing Ability (MASA) as an assessment tool. We assessed patients at baseline, one day after treatment, and at a one-month follow-up. Results: Groups showed no significant difference at baseline. After treatment, the real group showed a significant difference in the severity risk of AP (P = 0.02); the same was for the follow-up (P = 0.04). The number of patients showing severe risk of AP was higher in the sham group after treatment (n = 13, 54.20%) and at follow-up (n = 4, 18.20%) than the real group (n = 4, 16.70%; n = 1, 4.50%, respectively). None of the patients reported the history of AP at any stage of assessment. Conclusion: Although the results were more promising in the real group than the sham group in reducing the risk of AP, both techniques can prevent AP. Therefore, we recommend early dysphagia management to prevent AP regardless of the treatment protocol.

2.
Br J Neurosurg ; 37(5): 1117-1123, 2023 Oct.
Article in English | MEDLINE | ID: mdl-35129010

ABSTRACT

BACKGROUND: Lumbosacral Spinal Stenosis (LSS) is a degenerative spine disease and a major cause of pain and disability, especially in geriatrics. Primary symptom control in patients with LSS includes conservative treatment and non-surgical methods. In this study, we aimed to compare the effect of steroid injection via epidural and gluteal trigger point techniques. METHODS: Patients aged 40-75 years old who had pain and other clinical signs of spinal stenosis in the last 6 months were included in our study and divided into two groups of gluteal trigger point (TP) or epidural steroid injection (ESI). The patients were evaluated based on the visual analog scale (VAS), Roland-Morris Disability Questionnaire (RDQ), Oswestry Disability Index (ODI), and the Quebec back pain disability scales during their pre-injection period and 2 weeks after follow-ups till 8 weeks. A P value of less than 0.05 was considered significant. RESULTS: A total of 44 patients were included in our study. The TP group had a significant decrease in comparison with their follow-ups; however, in the epidural group, the significant decrease was only observed compared to the pre-injection period and the scores did not have any significant decreases after the second week regarding the ODI, RQM, and VAS scales. The TP group demonstrated significantly higher scores of decreases of ODI and Quebec score compared to the epidural group at weeks 4 and 8. Regarding RQM, the TP groups demonstrated significantly higher scores of decreases compared to the epidural group at weeks 2, 4 and 8. (p < 0.001 p = 0.008, and p < 0.001, respectively). CONCLUSION: Both epidural and TP steroid injection significantly reduced the patients' pain and improved their QoL and function; however, more satisfactory results were observed in the TP group during the patients' follow-ups, while the epidural group demonstrated only statistically significant improvement during the short-term follow-up.


Subject(s)
Spinal Stenosis , Humans , Adult , Middle Aged , Aged , Spinal Stenosis/complications , Spinal Stenosis/drug therapy , Spinal Stenosis/diagnosis , Constriction, Pathologic , Quality of Life , Trigger Points , Treatment Outcome , Back Pain , Steroids/therapeutic use , Steroids/pharmacology , Injections, Epidural/methods , Lumbar Vertebrae/surgery
3.
Dysphagia ; 38(1): 330-339, 2023 02.
Article in English | MEDLINE | ID: mdl-35715574

ABSTRACT

Post-stroke dysphagia is a prevalent, life threatening condition. Scientists recommended implementing behavioral therapies with new technologies such as transcranial direct current of stimulation (TDCS). Studies showed promising TDCS effects, and scientists suggested the investigation of the effectiveness of different montages. Supramarginal gyrus (SMG) is important in swallowing function. Our study aimed to investigate the effectiveness of stimulating SMG in improving post-stroke dysphagia. Forty-four patients finished the study (a randomized, double-blind one). All of them received behavioral therapy. The real group received anodal (2 mA, 20 min) stimulation on the intact SMG, and the sham group received the same for 30 s (5 sessions). Patients were assessed with Functional Oral Intake Scale (FOIS) and Mann Assessment of Swallowing Ability (MASA) after treatment and at one-month follow-up. The results showed that the difference between groups at baseline was not significant. According to MASA both groups improved significantly during the time (p-value < 0.001). The improvement in the real group was significantly higher than in the sham group after treatment (p-value = 0.002) and after one-month follow-up (p-value < 0.001). According to FOIS, most of the patients in the real group (72.70%) reached level 6 or 7 after one-month follow-up which was significantly higher than the sham group (31.80%, p-value = 0.007). In conclusion, TDCS applied to the scalp's surface associated with SMG localization may improve swallowing function in the stroke patients with dysphagia.


Subject(s)
Deglutition Disorders , Stroke Rehabilitation , Stroke , Transcranial Direct Current Stimulation , Humans , Deglutition Disorders/therapy , Deglutition Disorders/complications , Deglutition , Treatment Outcome , Transcranial Direct Current Stimulation/methods , Stroke Rehabilitation/methods
4.
Mediterr J Rheumatol ; 34(4): 460-468, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38282946

ABSTRACT

Objective/Aim: This study aimed to assess how effective an oral form of Cetylated fatty acids compounds (CFA) is in improving the physical function, pain, and stiffness of individuals suffering from knee osteoarthritis (OA) and how its effectiveness compares to that of Meloxicam, a non-steroidal anti-inflammatory drug (NSAID). Methods: For this parallel-arm randomised clinical trial, 48 adult patients with knee OA were divided into two groups. The intervention group was prescribed 350mg CFA capsule three times per day for 30 days. The control group was given 15mg of Meloxicam, one tablet daily for ten days. Patients were instructed to fill out the Oxford Knee Score (OKS), Western Ontario and McMaster University Osteoarthritis Index (WOMAC), and Visual Analog Scale (VAS). Data were obtained before the administration of the first dose (considered baseline or t0), and two (t1), four (t2), and eight (t3) weeks after the final dose of each intervention. Results: No significant differences were observed in total WOMAC and OKS scores between the two groups at t1, t2, or t3. However, both groups had significant improvements in their OKS, VAS, and total WOMAC scores compared to their baselines (t0). No adverse events were noted in the CFA group. Conclusion: Improvements in pain intensity and overall physical function were reported in the CFA group. Oral CFAs could safely benefit patients with knee OA.

5.
J Hand Surg Asian Pac Vol ; 27(2): 256-260, 2022 Apr.
Article in English | MEDLINE | ID: mdl-35404207

ABSTRACT

Background: Some patients with a confirmed diagnosis of carpal tunnel syndrome (CTS) on clinical examination and electrodiagnostic testing (EDX) may also have one or more clinical features of pronator syndrome (PS). However, the EDX is negative for PS. We label these patients as suspected concurrent carpal tunnel and pronator syndrome (CCPS). We suspect that this is a presentation of reverse double crush syndrome that occurs when a symptomatic distal compression neuropathy converts an asymptomatic proximal compression into a symptomatic one. We believe both compressions can be relieved by decompressing the median nerve only at the wrist. The aim of our study is to determine whether carpal tunnel release (CTR) is an effective treatment for patients suffering from CCPS. Methods: This is a prospective, cohort study of the outcomes of CTR in two matched groups with 37 patients in each group. Group A included patients with suspected CCPS and group B included patients with isolated CTS. All patients were evaluated pre-operatively and 1 year after surgery using the Boston Carpal Tunnel Questionnaire (BCTQ). At one year, patients were also assessed for residual symptoms and positive provocative tests. Results: A significant improvement in the symptom and functional severity scales (SSS and FSS) of the BCTQ was noted in both groups. The degree of improvement in SSS was similar in both groups; however, group A showed a greater improvement in FSS. This could be attributed to higher pre-operative values in some items of FSS in group A. No patients in either group had residual symptoms severe enough to necessitate further treatment. Conclusion: The outcomes of CTR are similar in patients with isolated CTS and suspected CCPS and a CTR may be sufficient to address symptoms of CTS and PS in patients with CCPS. Level of Evidence: Level II (Therapeutic).


Subject(s)
Carpal Tunnel Syndrome , Median Neuropathy , Carpal Tunnel Syndrome/diagnosis , Carpal Tunnel Syndrome/surgery , Cohort Studies , Humans , Prospective Studies , Wrist/surgery
6.
Pan Afr Med J ; 43: 95, 2022.
Article in English | MEDLINE | ID: mdl-36660090

ABSTRACT

Introduction: little is known about social media (SM) use among breast cancer (BC) patients and their general health (GH). This study aimed to evaluate the impact of SM and sociodemographic characteristics associated with GH in BC patients during the treatment phases. Methods: a retrospective cross-sectional study was conducted on BC patients at Shiraz University from December 2017 to August 2020. Data on clinical, epidemiological, and GH information were collected using a general health questionnaire (GHQ-28). Univariate analysis was performed to determine the impact of SM on GH. Additionally, multivariate logistic regression models [odds ratio (OR)] were performed to identify sociodemographic factors that affect the GH of BC patients. Results: amongst the 353 individuals with BC, 339 (96%) were female. Their mean age was 48.98 ± 11.57 years. Two hundred and thirty (65.2%) patients used SM; the most frequent SM application was WhatsApp by 209 participants (59.2%). Univariate analysis showed a significant social dysfunction among SM nonusers compared to their users (6.68 ± 2.87 vs. 7.87 ± 3.22) and the difference was statistically significant (p < 0.0001). The use of SM for 3 hours or less was associated with less social dysfunction. However, the difference was not statistically significant (22.80± 12.48 vs. 25.21 ± 10.17, p =0.415). Multivariate logistic regression showed that using SM and working outdoors was positively associated with GH (OR = 0.68, 95% CI =0.29-1.59) and (OR =0.92, 95% CI = 0.54-1.57), respectively. However, female gender and use of chemotherapy were negatively associated with GH (OR = 2.96, 95% CI = 0.74-11.72, and OR =1.47, 95% CI = 0.83-2.57), respectively. Age, marital status, educational level, and disease duration were not statistically associated with GH. Conclusion: using SM and working outdoors directly and positively impact the behavior of people who have BC, while the female gender and those under chemotherapy were negatively associated with GH in BC patients.


Subject(s)
Breast Neoplasms , Social Media , Humans , Female , Adult , Middle Aged , Male , Breast Neoplasms/epidemiology , Cross-Sectional Studies , Retrospective Studies , Health Status
7.
Dysphagia ; 37(4): 966-972, 2022 08.
Article in English | MEDLINE | ID: mdl-34432140

ABSTRACT

Muscular hypotonia is a feature of Down syndrome (DS), and it affects the tongue and lips. A study on oral dysfunction in children with DS concluded that most of them did not have the tongue strength for completing the oral phase of swallowing. Recognizing the weakness of the oral muscles and improving its motor function positively affects mastication and swallowing, and prevents complications. This cross-sectional study aimed to measure the lip and tongue strength and endurance of children with DS and their typical peers, and compare these two groups with each other using Iowa Oral Performance Instrument (IOPI). Eight children with DS and 33 typical children aged 8-13 years were enrolled in this study. To examine the effect of age on the tongue strength and endurance, we divided the children into three groups of 8-9, 10-11, and 12-13 years old. The results showed that both anterior and posterior tongue strength were significantly lower in children with DS (p = 0.004 and 0.003). But, it was not the case with tongue endurance. Also, in 10-11 years old age group, the mean posterior tongue strength and in 12-13 years old age group the lip endurance was significantly lower in children with DS (p = 0.05 for both). Lips strength and endurance were both remarkably lower in children with DS (p = 0.004 and 0.02). In this study, tongue, and lip strength and endurance in both children with DS and typical ones were measured with IOPI for the first time. Moreover, it provided quantitative data on the strength and endurance of the muscles of the tongue and lips, which can contribute to future studies.


Subject(s)
Down Syndrome , Lip , Adolescent , Child , Cross-Sectional Studies , Deglutition/physiology , Down Syndrome/complications , Humans , Lip/physiology , Muscle Strength/physiology , Tongue/physiology
8.
Article in English | MEDLINE | ID: mdl-34712343

ABSTRACT

PURPOSE: The high prevalence of knee osteoarthritis (KOA) is a major cause of disability among elders. NSAIDs are recommended to reduce KOA patients' symptoms, but their adverse side effects limit their consumption. In this study, we evaluated the effectiveness of Harpagophytum procumbens compared to a routine NSAID (meloxicam) on pain reduction and functional improvement of KOA patients. Patients and Methods. Sixty patients aged 40-60 years, with painful knee osteoarthritis (grades 1-2 of Kellgren-Lawrence scale) for at least one month, were randomized into two groups with different routine medication periods. Group A consisted of daily administration of two Harpagophytum procumbens (Teltonal) tablets (2∗480 mg) for one month, and group B consisted of daily administration of meloxicam (15 mg) for ten days. The visual analogue scale (VAS), Western Ontario McMaster University Osteoarthritis Index (WOMAC), Oxford Knee Scale (OKS), and patient satisfaction were evaluated at the baseline and after 2, 4, and 8 weeks. RESULTS: There were no statistically significant differences between demographic characteristics, pain intensity, and function scores before the treatment. VAS, OKS, and WOMAC scores improved in both groups (p < 0.001) over time, but no significant superiority was shown; after 8 weeks: VAS (Teltonal (4.80 ± 1.80) vs. meloxicam (5.06 ± 1.43)), OKS (34.06 ± 4.38, 34.00 ± 7.87, Teltonal vs. meloxicam, respectively), and WOMAC scores (25.73 ± 10.11 Teltonal vs. 26.20 ± 13.94, meloxicam). CONCLUSION: Teltonal is an effective and safe treatment in patients with mild KOA in the short term. However, no significant superiority was shown in using Teltonal or meloxicam, in people who cannot take NSAIDs, it can be a good alternative, although difference in medication periods should be considered.

9.
Article in English | MEDLINE | ID: mdl-34394385

ABSTRACT

BACKGROUND: Knee osteoarthritis is a common disease that is associated with chronic pain and disability in patients. Prolotherapy is a complementary therapeutic approach for improving pain and function in patients with osteoarthritis. We aimed to compare the effect of hypertonic saline with ozone plus hypertonic saline in improving the symptoms of osteoarthritis in the patients. Materials and Method. In this clinical trial, thirty-four adults with painful primary knee osteoarthritis for at least three months were randomized to two groups: ozone plus hypertonic saline 5% and hypertonic saline 5% alone. Prolotherapy and thrice follow-up with two-week intervals were done. The outcome measures included Oxford Knee Scale (OKS), Western Ontario McMaster University Osteoarthritis Index (WOMAC), and Visual Analog Scale (VAS), which were obtained from the patients before the injection and after the 2nd and 4th weeks after the start of the study. RESULTS: The mean age of the participants was 60.12 ± 7.54 years. There were no statistically significant differences between demographic characteristics before the injection between the two groups (p > 0.05). The results showed that VAS and OKS values decreased over time (p < 0.001) in each group, but there was no significant difference in the reduction of those between the two treatment groups (p = 0.734 and p = 0.734, respectively). Both interventions improved the mean values of WOMAC pain, WOMAC stiffness, WOMAC act, and WOMAC total. However, there was no significant difference in WOMAC pain reduction rate (p = 0.465), WOMAC stiffness rate (p = 0.656), WOMAC act rate (p = 0.376), and WOMAC total rate between the two methods (p = 0.528). CONCLUSION: The results showed that intra-articular prolozone therapy and hypertonic saline injection can lead to improvement of pain and function in patients with knee osteoarthritis at the same status without any significant difference.

10.
Br J Neurosurg ; : 1-6, 2021 May 08.
Article in English | MEDLINE | ID: mdl-33969764

ABSTRACT

BACKGROUND: Lumbosacral spinal stenosis (LSS) is the narrowing of the lumbar spinal canal. LSS usually happens in older people who do not have the proper physical condition to undergo surgery. Therefore, minimally invasive methods such as Ozone therapy and epidural injection can be used in these patients. OBJECTIVE: The objective this study was to compare the effect of caudal epidural steroid-hyaluronidase injection with paravertebral intramuscular Ozone injection on reducing pain in patients with LSS. METHODS: A total of 30 patients suffering from LSS randomized to two groups. Group A (n = 15) received three paravertebral intramuscular infiltrations of the Ozone, Group B (n = 15) received a caudal epidural injection of steroid-hyaluronidase. The effects of the interventions were evaluated by measuring Visual analog scale (VAS), Oswestry Disability index (ODI), Quebec Back Pain Disability (QBPDS) and Roland Morris low back pain questionnaire (RMQ) before the interventions and at 2 weeks, 4 weeks, and 8 weeks after the interventions. RESULTS: Within-group changes showed significant improvement in VAS, ODI, RMQ, and QBPDS scores in both groups from pre-treatment to end of follow-up (all p < 0.05). The mean VAS score at all follow-up had significant differences between the two groups (p < 0.01). The mean ODI, RMQ, and QBPDS scores at 2-week and 4-week had significant differences between the two groups (p < 0.01). At the 8-week follow-up, there was no significant difference between groups concerning mean ODI, RMQ, and QBPDS scores (p > 0.05). CONCLUSION: Both intramuscular injection Ozone and caudal epidural injection steroid- hyalaz significantly reduce pain. The existing data suggested 8 weeks improvements in pain severity are more significant for paravertebral Ozone injection, compared to caudal epidural steroid-hyaluronidase injection.

11.
Dysphagia ; 36(2): 327, 2021 04.
Article in English | MEDLINE | ID: mdl-32430589

ABSTRACT

This letter is written according to stoichiometric calculation doubt about the article entitled "effects of carbonated liquids on oropharyngeal swallowing measures in people with neurogenic dysphagia" by Sdravou et al.


Subject(s)
Deglutition Disorders , Deglutition , Humans , Oropharynx
12.
Article in English | MEDLINE | ID: mdl-32831875

ABSTRACT

INTRODUCTION: Knee osteoarthritis (KOA) is one of the most common degenerative diseases that lead to pain and disability. Oral NSAIDs are effective drugs used to alleviate symptoms in patients with KOA, but they have several important complications, especially in the elderly. In this study, we evaluated the effectiveness of mesotherapy on pain reduction and improvement of functioning in patients with KOA. METHODS: Sixty-two patients with KOA, grade 2-3 of the Kellgren-Lawrence scale, were randomized into two groups: the mesotherapy group, in which two injections were applied with piroxicam at a 10-day interval, and the oral group, in which piroxicam was prescribed for 10 days. The patients were evaluated before the treatment and 2, 4, and 8 weeks after it using the Visual Analogue Scale (VAS), Oxford Knee Scare (OKS), and Western Ontario McMaster University Osteoarthritis Index (WOMAC, Persian version). RESULTS: There was no significant difference in demographic characteristics and baseline pain and function scores between the two groups. After 2, 4, and 8 weeks of follow-up, VAS, WOMAC, and OKS scores significantly improved in both groups (in the mesotherapy group: p value <0.001 in all three scores and in the oral group: p value <0.001 in the VAS scale and p value <0.05 in WOMAC and OKS scores). There was no significant difference between the two groups at any time in the VAS score, but improvement in WOMAC and OKS scales in the mesotherapy group was significantly better (p value <0.05 in both scales [p value <0.03 in OKS and p value <0.02 in WOMAC scales]). Side effects in both groups were not serious: limited heart burn in 32.2% of the total subjects in the oral group and pain at the injection site in 3.2% and bruises in 38.7% of the total subjects in the mesotherapy group. CONCLUSION: Mesotherapy is an effective and safe treatment modality in patients with mild-to-moderate KOA in the short term. This trial is registered with IRCT2017052434113N1.

13.
Mult Scler Int ; 2020: 2791317, 2020.
Article in English | MEDLINE | ID: mdl-32695512

ABSTRACT

BACKGROUND: Multiple sclerosis (MS) threatens the patients' independency and ability to effectively participate in the society. The aim of this study was to determine the correlation between using social networks on the general health of multiple sclerosis patients. METHODS: This study was performed on 80 MS patients referring to Shiraz University of Medical Sciences, Chamran, and Imam Reza Hospital in 2017, whose condition had improved and were treated by a specialist physician. Tools for data collection were general health questionnaire (GHQ-28) and social networks use questionnaires. RESULTS: Amongst the 80 individuals with MS, 65 (81.3%) were female and 15 (18.8%) were male. Our results suggest that patients with higher levels of education had higher levels of health (P = 0.01). Telegram and WhatsApp, respectively, had a positive correlation with general health (P = 0.007, P = 0.007), anxiety (P = 0.003, P = 0.028), and social dysfunction (P = 0.007, P = 0.007). WhatsApp with 33.64% was the most popular application among MS patients. The correlation between general health and duration of using social networks was not statistically significant (r = 0.22, P = 0.06). Also, no significant correlation was found between the duration of using social networks and the general health (P = 0.62). CONCLUSION: Our findings suggest that social networks, especially Telegram and WhatsApp, had a positive correlation with general health, anxiety, and social dysfunction of patients. Therefore, the use of social networks can be considered as a suitable option in reducing the aforementioned concerns among patients with MS. On the other hand, general health and mood status might as well influence the use of social network in MS patients.

14.
Acta Neurol Belg ; 120(6): 1405-1409, 2020 Dec.
Article in English | MEDLINE | ID: mdl-32566990

ABSTRACT

Social media is a powerful tool in providing information and support for minority groups such as patients with chronic diseases. We aimed to assess the link between using online social media and depression in a sample population of Iranian Multiple Sclerosis (MS) patients. In this cross-sectional study, a number of MS patients between 18-55 years were recruited. The Persian-language version of the Beck Depression Inventory-II (BDI-II-Persian) was used to screen MS patients for depression. We selected a cut-off point of 16 to identify depressed MS patients, who answered the self-administered questionnaire designed by the authors (the validity and reliability was confirmed before). Patients, whose interaction with social networks and communication tools was limited to < 1 h/day for < 5 times/month, were allocated as controls. A two-sided p < 0.05 was considered statistically significant. We compared the depression score between patients who used internet and social media (16.38 ± 8.35) with those who did not (25 ± 13.98). We found out there was a significant difference (p = 0.046). However, there were no significant differences between the type (r = 0.098, p = 0.513) and duration (r = - 0.102, p = 0.564) of social media with depression score. Also, based on a cut-off of 3 number of social media there was no significant difference in the status of depression among patients (p = 0.921). Based on the experience of patients, it is helpful to implement a source using online social media to facilitate patients' access to rehabilitation support and establish support groups with standard supervised information delivery.


Subject(s)
Depression/etiology , Multiple Sclerosis/psychology , Psychosocial Support Systems , Self-Help Groups , Social Media , Adolescent , Adult , Cross-Sectional Studies , Depression/epidemiology , Female , Humans , Iran , Male , Young Adult
15.
Br J Neurosurg ; 34(1): 59-61, 2020 Feb.
Article in English | MEDLINE | ID: mdl-31747783

ABSTRACT

Introduction: Restless leg syndrome (RLS) is a neurological disorder that causes an irresistible urge to move the legs often associated with an unpleasant sensation. Due to some common presentations between RLS and lumbosacral spinal stenosis, the purpose of this study was to evaluate the symptoms of RLS in the presence of spinal stenosis at the same time as normal populations.Materials and methods: This cross-sectional study examined 45 patients with lumbosacral spinal canal stenosis and 45 normal individuals without a specific disease. Patients aged 50-70 years were included in the study. All the statistical analyses were carried out using SPSS 21.0 software and p < 0.05 was considered statistically significant.Results: 19 subjects (42.22%) in the patient group and eight in the normal group (17.8%) suffered from restless leg syndrome. Multiple linear regression analysis revealed that patients with lumbosacral canal stenosis had almost five score less than others in RLS scale.Conclusion: RLS symptoms were more prominent in lumbosacral canal stenosis patients compared to the normal group. The awareness of its symptoms can help reduce misdiagnosis.


Subject(s)
Lumbosacral Region/pathology , Restless Legs Syndrome/diagnosis , Restless Legs Syndrome/pathology , Spinal Stenosis/diagnosis , Spinal Stenosis/pathology , Aged , Aging , Cross-Sectional Studies , Female , Humans , Male , Middle Aged , Reference Values , Sex Characteristics
17.
Am J Hum Genet ; 104(4): 767-773, 2019 04 04.
Article in English | MEDLINE | ID: mdl-30929741

ABSTRACT

The diagnostic gap for rare neurodegenerative diseases is still considerable, despite continuous advances in gene identification. Many novel Mendelian genes have only been identified in a few families worldwide. Here we report the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose affected members all carry unique truncating changes in a circumscript region of UBAP1 (ubiquitin-associated protein 1). HSP is a neurodegenerative disease characterized by progressive lower-limb spasticity and weakness, as well as frequent bladder dysfunction. At least 40% of affected persons are currently undiagnosed after exome sequencing. We identified pathological truncating variants in UBAP1 in affected persons from Iran, USA, Germany, Canada, Spain, and Bulgarian Roma. The genetic support ranges from linkage in the largest family (LOD = 8.3) to three confirmed de novo mutations. We show that mRNA in the fibroblasts of affected individuals escapes nonsense-mediated decay and thus leads to the expression of truncated proteins; in addition, concentrations of the full-length protein are reduced in comparison to those in controls. This suggests either a dominant-negative effect or haploinsufficiency. UBAP1 links endosomal trafficking to the ubiquitination machinery pathways that have been previously implicated in HSPs, and UBAP1 provides a bridge toward a more unified pathophysiology.


Subject(s)
Carrier Proteins/genetics , Mutation , Spastic Paraplegia, Hereditary/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Animals , Child , Child, Preschool , Databases, Factual , Disease Models, Animal , Endosomes/metabolism , Family Health , Female , Fibroblasts/metabolism , Genes, Dominant , Genetic Linkage , Genetic Predisposition to Disease , Genomics , HEK293 Cells , Haploinsufficiency , Humans , Male , Middle Aged , Pedigree , Protein Isoforms , Young Adult , Zebrafish
18.
Dysphagia ; 34(1): 105-111, 2019 02.
Article in English | MEDLINE | ID: mdl-29931606

ABSTRACT

Despite the remarkable burden of dysphagia, appropriate multidisciplinary management is lacking in Iran and patients are often deprived of effective treatments. Obtaining a full understanding of knowledge, attitude and practice (KAP) of healthcare providers is necessary to determine the gaps in improvement of the quality of care for dysphagic patients. A questionnaire was designed covering demographic information and the parameters of KAP. Face and content validity were determined. Test-retest reliability confirmed that the questionnaire scores are stable over time (r = 0.77, p value < 0.01). Participants were healthcare providers employed in university-affiliated hospitals in three major cities of Iran; Tehran, Shiraz and Mashhad. In total, 312 healthcare professionals completed our survey. The majority (96.8%) were familiar with the term "dysphagia or swallowing disorders". Most of the participants believed their profession (88.5%), as well as other disciplines (92.3%) can play an important role in the management of dysphagia; and this problem should be recognized in a multidisciplinary manner (96.2%). Also, 60.9% had encountered a patient with dysphagia. 52.2% had used at least one assessment method, while 49.9% had applied at least one treatment method. However, very few participants were familiar with a standard test for screening and assessment of dysphagia (11.9%). 74.7% were willing to participate in a workshop on dysphagia. As the main pitfalls of care lie in diagnosis and treatment expertise, the policy of hospitals should prioritize educating and updating the skills of healthcare professionals, encourage multidisciplinary teamwork, establishing clear guidelines and facilitate access to advanced tools.


Subject(s)
Attitude of Health Personnel , Deglutition Disorders/psychology , Health Knowledge, Attitudes, Practice , Health Personnel/psychology , Adult , Deglutition Disorders/therapy , Female , Humans , Iran , Male , Quality of Health Care , Surveys and Questionnaires
19.
Electron Physician ; 10(3): 6527-6533, 2018 Mar.
Article in English | MEDLINE | ID: mdl-29765578

ABSTRACT

BACKGROUND AND AIM: Peripheral neuropathy is a disorder with often unknown causes. Some drugs, including statins, are proposed to be among the causes of peripheral neuropathy. This study aimed at evaluating this condition by electrodiagnostic study among patients who had received statins. METHODS: This case-control study was conducted in Shiraz, Iran in 2015, and included 39 patients aged 35-55 who had received statins for at least 6 months, and 39 healthy matched controls. Using electrodiagnosis, the sensory and motor wave features (amplitude, latency and nerve conduction velocity) of the peripheral nerves (Median, Ulnar, Tibial, Sural, and Peroneal) were evaluated among the subjects. Data were analyzed using SPSS software and p<0.05 was considered statistically significant. RESULTS: Regarding the occurrence of neuropathy, there were no significant differences in any of the definitions presented for peripheral neuropathy. However, the difference was close to significance for one definition [2 abnormalities in 2 nerves (p=0.055)]. Regarding mean values of the features, significant differences were observed in two features: amplitude of the peroneal motor nerve (p=0.048) and amplitude of the sural sensory nerve (p=0.036). CONCLUSION: Since statins are widely used, awareness regarding their side-effects would lead to better treatment. Even though no significant differences were found between the groups regarding the occurrence of peripheral neuropathy, there were significant differences in amplitudes of the sural sensory response and the peroneal motor response. This indicates the involvement of peripheral nerves. Therefore, we recommend that patients and physicians should be informed about the possible symptoms of this condition.

20.
Asian Pac J Cancer Prev ; 18(11): 2985-2988, 2017 11 26.
Article in English | MEDLINE | ID: mdl-29172269

ABSTRACT

Objective: The focus of attention was the prevalence of depression among cancer patients using social networks. An attempt was made to determine if social media could help cancer patients overcome their stress and depression, causes of serious emotional and mental problems for them and their families. Methods: To ascertain the prevalence of depression among cancer patients with reference to use of social networks, 316 cancer patients in the Association of Cancer Patients and cancer-related centers in Tehran at 2015 were evaluated. Depression was measured using the Beck Depression Inventory. Data were analyzed by the Chi-square test with SPSS software. Results: Using the Beck criteria, 61% (N=192) of patients were depressed. Interestingly, a significant difference was observed between depression in users and non-users of social networks (p=0.001), 33.9% and 66.1% being affected, respectively. Conclusion: These results verified a high incidence of depression in cancer patients, but a beneficial effect of social network use. Therefore access to social networks should be promoted for prevention and amelioration of depression. Moreover, it is recommended that particular attention be paid to the patient sex and educational level in designing counseling and psychological skill training programs.

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