Utility and Results from a Patient-Reported Online Survey in Myotonic Dystrophies Types 1 and 2

2020 ◽  
Vol 83 (5) ◽  
pp. 523-533
Author(s):  
Stephan Wenninger ◽  
Kristina Stahl ◽  
Federica Montagnese ◽  
Benedikt Schoser
Keyword(s):  
Muscle Weakness ◽  
Online Survey ◽  
Clinical Symptoms ◽  
Age Of Onset ◽  
Neuromuscular Disorders ◽  
Gastrointestinal Symptoms ◽  
Online Surveys ◽  
Cardiac Symptoms ◽  
Significant Difference ◽  
Patient Reported

<b><i>Introduction:</i></b> Myotonic dystrophies (DMs) are the most frequent autosomal dominant neuromuscular disorders in adults. Our objective was to evaluate the utility of an online survey in a rare disease as well as to assess and compare the onset and the progression of clinical symptoms in patients with myotonic dystrophy types 1 (DM1) and 2 (DM2). <b><i>Methods:</i></b> We conducted a patient’s reported online survey assessing demographics, disease-related symptoms (age of onset, first symptom, time of diagnosis, current symptoms, inheritance, and family history) combined with capturing current symptoms by validated questionnaires. The questionnaire consisted of open, closed, single- and multiple-choice questions. Multiple answers were possible in some cases. Patients with genetically confirmed DM1 or DM2 who were registered in the German DM registry or the <i>Deutsche Gesellschaft für Muskelkranke e.V.</i> – Diagnostic Group for DMs were invited to participate in this online survey. We calculated descriptive and exploratory analysis, where applicable. <b><i>Results:</i></b> Out of 677 data sets from respondents, 394 were suitable for final analysis, containing completed questionnaires from 207 DM1 (56% female) and 187 DM2 patients (71% female). The median age of onset was 28 years for DM1 and 35 years for DM2. Muscular symptoms were most frequently reported as the first symptom. The onset of myotonia was earlier than the onset of muscle weakness in both DM1 and DM2. Forty-four percent of patients with DM1 and one-third of patients with DM2 indicated muscle weakness as the first symptom. Patients with DM1 were significantly younger when experiencing muscle weakness as first symptom. Fatigue was only mentioned by a small fraction of patients as a first symptom but increased significantly in the course of the disease. There was no statistically significant difference in the incidence of cataracts, cardiac symptoms, and gastrointestinal symptoms between DM1 and DM2. Falls were reported almost equally in both groups, and most of the patients reported 2–3 falls within the past year. <b><i>Discussion:</i></b> Overall, as our results are consistent with the results of clinical studies and online registries, it can be assumed that this type of systematic gathering of data from patients with rare diseases is useful and provides realistic and appropriate results. Due to the nature of online surveys and the absence of an assessor, some uncertainty remains. Furthermore, survey frauds cannot be completely excluded. An additional clinical assessment could confirm the given information and will improve the utility and validity of reported symptoms participants provide in online surveys. Therefore, we recommend a combination of data collecting by online surveys and clinical assessments.

scholarly journals Clinical and Pathological Features of Immune-Mediated Necrotising Myopathies in a Single-Centre Muscle Biopsy Cohort

2022 ◽  
Author(s):  
Hongxia Yang ◽  
Xiaolan Tian ◽  
Lining Zhang ◽  
Wenli Li ◽  
Qingyan Liu ◽  
...  
Keyword(s):  
Muscle Fibre ◽  
Muscle Weakness ◽  
Muscle Biopsy ◽  
Clinical Symptoms ◽  
Age Of Onset ◽  
Pathological Features ◽  
Single Centre ◽  
Lipid Storage Myopathy ◽  
Pathological Characteristics ◽  
Immune Mediated

Abstract Objective Immune-mediated necrotising myopathy (IMNM) is a recently entitled novel subset of idiopathic inflammatory myopathies (IIM) characterized by significant elevated creatine kinase (CK) level, muscle weakness and predominant muscle fibre necrosis in muscle biopsy. This study aimed to investigate the clinical and pathological characteristics of patients with IMNM in our single-centre muscle biopsy cohort. Methods A total of 860 patients who had muscle biopsy reports in our centre from May 2008 to December 2017 were enrolled in this study. IMNM was diagnosed in according with 2018 European Neuromuscular Centre (ENMC) clinicopathological diagnostic criteria for IMNM. Results The muscle biopsy cohort consisted of 531 patients with IIM (61.7%), 253 patients with non-IIM (29.4%), and 76 undiagnosed patients (8.8%). Among IIM patients, polymyositis (PM), dermatomyositis(DM), amyopathic dermatomyositis, juvenile DM, and inclusion body myositis were 182(21.2%), 236(27.4%), 83(9.7%), 18(2.1%) and 3(0.3%), respectively. In PM subgroup, 59 patients met serological and pathological characteristics of IMNM according to 2018 ENMC criteria including 29 anti-SRP-positive patients,10 anti-HMGCR-positive patients and 20 MSA-negative patients. Limb girdle muscular dystrophy (LGMD) 2B and lipid storage myopathy (LSM) were 29 and 16 respectively, which present similar manifestations of IMNM with elevated CK levels and muscle weakness among non-IIM group. IMNM patients had older age of onset (mean: 42.25 vs 21.66 and 24.56, p<0.0001), shorter duration of diseases (mean: 22.56 vs 66.69 and 48.94, p<0.0001) and more frequent of dysphagia (33.9% vs 3.4% and 6.3%, p<0.0001) compare to patients with LGMD 2B and LSM. Muscle biopsy from IMNM patients showed frequent muscle fibre necrosis (96.6% vs 72.4% and 56.3%, p<0.0001), overexpression of MHC-I on sarcolemma (81.4% vs 37.9% and 12.9%, p<0.0001) and CD4+ T cell endomysial infiltration (89.9% vs 53.6% and 50%, p<0.0001) compared with LGMD 2B and LSM patients. Conclusions It is easy to distinguish IMNM from other subtype of IIM according to clinical symptoms and MSAs profiles. However, distinguishing IMNM from disorders clinically similar non-IIM need to combine with clinical, serological and pathological features.

scholarly journals Measures of gluten-related reactivity in children with autism spectrum disorders in the absence of overt gastrointestinal symptoms: a pilot study from the United Arab Emirates

2020 ◽  
Vol 48 (9) ◽  
pp. 030006052095265
Author(s):  
Mohamed Abdel-Maksoud ◽  
Dina Aly El-Gabry ◽  
Tahani Al Kayoumi ◽  
Jamila Alketbi ◽  
Duaa Mohamednour ◽  
...  
Keyword(s):  
United Arab Emirates ◽  
Clinical Symptoms ◽  
Tissue Transglutaminase ◽  
Gastrointestinal Symptoms ◽  
Autism Spectrum ◽  
Immune Reactivity ◽  
Immunological Responses ◽  
Significant Difference ◽  
High Prevalence ◽  
Gliadin Peptide

Objectives The aetiology of autism spectrum disorder (ASD) is multifactorial, sometimes genetic, and may be associated with abnormal immunological responses to peptides from proteins such as gluten. These peptides may cross the blood-brain barrier and affect neurotransmission, resulting in behavioural symptoms consistent with ASD. The aim of this study was to screen for markers of gluten-related immune reactivity in the absence of overt gastrointestinal symptoms in patients with ASD in the United Arab Emirates, a country associated with a high prevalence of ASD but lacking this type of research. Methods Patients diagnosed with ASD (using Diagnostic and Statistical Manual of Mental Disorders-IV-based criteria and Autism Diagnostic Observational Schedules) were compared with controls, regarding anti-tissue transglutaminase (tTG) immunoglobulin (Ig) A and anti-deamidated gliadin peptide (DGP) IgA levels. Results Sixty-six patients with ASD and 101 controls were included. Patients with ASD showed statistically significant lower anti-DGP IgA levels, but no significant difference in anti-tTG IgA levels, versus healthy controls. Correlations between immunological data and clinical symptoms were synergistic, but not statistically significant. Conclusion ASD may be associated with reduced levels of anti-DGP IgA.

Sucralfate in the Prevention of Treatment-Induced Diarrhea in Patients Receiving Pelvic Radiation Therapy: A North Central Cancer Treatment Group Phase III Double-Blind Placebo-Controlled Trial

2000 ◽  
Vol 18 (6) ◽  
pp. 1239-1245 ◽  
Author(s):  
James A. Martenson ◽  
John W. Bollinger ◽  
Jeff A. Sloan ◽  
Paul J. Novotny ◽  
Rodolfo E. Urias ◽  
...  
Keyword(s):  
Radiation Therapy ◽  
Treatment Group ◽  
Cancer Treatment ◽  
Gastrointestinal Symptoms ◽  
Phase Iii ◽  
Double Blind ◽  
North Central ◽  
Pelvic Radiation ◽  
Significant Difference ◽  
Patient Reported

PURPOSE: Randomized studies have suggested that sucralfate is effective in mitigating diarrhea during pelvic radiation therapy (RT). This North Central Cancer Treatment Group study was undertaken to confirm the antidiarrheal effect of sucralfate. Several other measures of bowel function were also assessed.PATIENTS AND METHODS: Patients receiving pelvic RT to a minimum of 45 Gy at 1.7 to 2.1 Gy/d were eligible for the study. Patients were assigned randomly, in double-blind fashion, to receive sucralfate (1.5 g orally every 6 hours) or an identical looking placebo during pelvic RT.RESULTS: One hundred twenty-three patients were randomly assigned and found assessable. Overall, there was no significant difference in patient characteristics between those receiving sucralfate and those receiving placebo. Moderate or worse diarrhea was observed in 53% of patients receiving sucralfate versus 41% of those receiving placebo. Compared with patients receiving placebo, more sucralfate-treated patients reported fecal incontinence (16% v 34%, respectively; P = .04) and need for protective clothing (8% v 23%, respectively; P = .04). The incidence and severity of nausea were worse among those taking sucralfate (P = .03). Analysis of patient-reported symptoms 10 to 12 months after RT showed a nonsignificant trend toward more problems in patients taking sucralfate than in those taking placebo (average, 2.3 v 1.9 problems, respectively; P = .34).CONCLUSION: Sucralfate did not decrease pelvic RT-related bowel toxicity by any of the end points measured and seems to have aggravated some gastrointestinal symptoms.

scholarly journals Association study of a genetic variant in the long intergenic noncoding RNA (linc01080) with schizophrenia in Han Chinese

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yi Qi ◽  
Yaxue Wei ◽  
Fengyan Yu ◽  
Qianxing Lin ◽  
Jingwen Yin ◽  
...  
Keyword(s):  
Cognitive Function ◽  
Noncoding Rna ◽  
Clinical Symptoms ◽  
Age Of Onset ◽  
Unknown Etiology ◽  
Allele Frequency Distribution ◽  
Genotype Distribution ◽  
Chinese Han ◽  
Southern Chinese ◽  
Significant Difference

Abstract Background Schizophrenia is currently considered to be a polygene-related disease with unknown etiology. This research will verify whether the single nucleotide polymorphism (SNP) of the long intergenic noncoding RNA01080 (linc01080) contributes to the susceptibility and phenotypic heterogeneity of schizophrenia, with a view to providing data support for the prevention and individualized treatment of this disease. Method The SNP rs7990916 in linc01080 were genotyped in 1139 schizophrenic and 1039 controls in a Southern Chinese Han population by the improved multiplex ligation detection reaction (imLDR) technique. Meanwhile, we assessed and analyzed the association between this SNP and schizophrenics’ clinical symptoms, and the cognitive function. Result There was no significant difference in genotype distribution, allele frequency distribution, gender stratification analysis between the two groups. However, the SNP of rs7990916 was significantly associated with the age of onset in patients with schizophrenia (P = 8.22E-07), patients with T allele had earlier onset age compared with CC genotype carriers. In terms of cognitive function, patients with T allele scored lower than CC genotype carriers in the Tower of London score and symbol coding score in the Brief assessment of Cognition (BACS), and the difference was statistically significant (P = 0.014, P = 0.022, respectively). Conclusion Our data show for the first time that linc01080 polymorphism may affect the age of onset and neurocognitive function in patients with schizophrenia.

scholarly journals Clinical features and outcome of fecal retention in infancy

2020 ◽  
Author(s):  
Lu Ren ◽  
Lan-Lan Geng ◽  
hong-li Wang ◽  
si-tang Gong ◽  
Jing Xie ◽  
...  
Keyword(s):  
Medical Record ◽  
Electronic Medical Record ◽  
Clinical Features ◽  
Clinical Symptoms ◽  
Gastrointestinal Symptoms ◽  
Treatment Rate ◽  
Record System ◽  
Significant Difference ◽  
Normal Defecation

Abstract 1) Background: To understand the clinical features and outcome of fecal retention in infancy(FRI), so as to guide the focus and intervention methods of such infants.2) Methods: The electronic medical record system(EMRS)was used to collect and screen out cases diagnosed as fecal retention from June 2018 to June 2019 in outpatient clinic of our hospital. The age, feeding method, frequency and traits of stool, and accompanying symptoms were recorded. The changes of clinical symptoms, medical examinations and drug treatment by the age of 1 year were investigated by means of electronic medical record review and telephone follow-up.3) Results: A total of 286 infants were enrolled, 7 were lost to follow-up, and 279 were effectively followed up. There were 157 males and 129 females, with an age of 3.6 ± 1.5 months. The average stool frequency was 5.9 ± 1.8 days. 63.3% of the infants were breast-fed, 16.8% were formula-fed, and the rest were mixed-fed,all without supplementary food. 9.1% of the infants showed corresponding gastrointestinal symptoms, such as bloating, increased crying, decreased milk intake, and laborious defecation. 87.1% of the infants received medical treatment, including glycerin enema, probiotics, and Chinese herbal preparations, with an effective treatment rate of 7.8%. 38.7% of infants have undergone medical examination, including abdominal ultrasound, X-ray film / barium enema, blood test, etc, the positive rate is 14.8%. The duration of fecal retention in 53% of infants was ≤ 2 months, 22.6% between 2–3 months, 24.4% ≥ 3 months, with an average of 2.6 ± 1.1 months. At the age of followed up to 1 year, 16.8% of infants developed functional constipation(FC). Compared with other infants with normal defecation, there was no significant difference in age, frequency of stool, the proportion of breast milk feeding and receiving treatment, and there was a significant difference in the duration of fecal retention. The duration of FC group was longer than normal defecation group by which was 3.49 ± 0.83 months.4) Conclusions: Infants with fecal retention are more likely to develop FC at age 1 than general population, and may be positively related to the duration of fecal retention.

scholarly journals Coeliac disease: no difference in milk and dairy products consumption in comparison with controls

2019 ◽  
Vol 2 (1) ◽  
pp. 39-42
Author(s):  
Fabiana Zingone ◽  
Paola Iovino ◽  
Cristina Bucci ◽  
Carolina Ciacci
Keyword(s):  
General Population ◽  
Coeliac Disease ◽  
Dairy Products ◽  
Online Survey ◽  
Gastrointestinal Symptoms ◽  
Public Access ◽  
Nutritional Deficiencies ◽  
Significance Level ◽  
Significant Difference ◽  
Milk And Dairy Products

BackgroundNutritional deficiencies are common in patients with coeliac disease and they can cause osteopenia among other associated diseases. Reduced consumption of milk and dairy products may play a major role in determining low bone mass in patients with coeliac disease.AimWe aimed to investigate milk and dairy products consumption in patients with coeliac disease compared with the general population.MethodsWe examined the average consumption of milk and dairy products and the reasons for not consuming them. An online survey was sent by email to patients with coeliac disease on a gluten-free diet and aged 18–75. Matched controls were selected among volunteers who responded to the survey posted on the public access sites. Differences in frequencies and means between the two groups were calculated using the χ2 test and t-test, respectively. All tests were two-tailed with a significance level set at p<0.05.Results176 patients with coeliac disease and 528 controls participated in the study. We found that 22.2% of the patients with coeliac disease and 19.9% of controls did not drink fluid milk on a regular basis; lactose-free milk was preferred by 20.4% of the patients with coeliac disease and by 19% of controls (p=0.69). Only a minority of patients with coeliac disease contacted a doctor before having lactose-free milk, despite this being led by the presence of gastrointestinal symptoms. More patients with coeliac disease than the general population reported a breath test before avoiding milk and dairy products.ConclusionsThere is no significant difference between patients with coeliac disease and controls in regular milk consumption. Follow-up visits for patients with coeliac disease could avoid unnecessary dietary restrictions.

scholarly journals Clinical and Genetic Aspects of Juvenile Onset Pompe Disease

2021 ◽  
Author(s):  
Johanna Holzwarth ◽  
Nadja Minopoli ◽  
Charlotte Pfrimmer ◽  
Martin Smitka ◽  
Sabine Borrel ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Pompe Disease ◽  
Clinical Symptoms ◽  
Neuromuscular Disorders ◽  
Positive Family History ◽  
Clinical Signs ◽  
First Year ◽  
Juvenile Onset ◽  
Initial Symptoms ◽  
Genotypic Analysis

AbstractLittle is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis was 3.9 (range 1.1–17) years. Eight patients (23.5%) developed initial symptoms in the first year, 12 (35%) between 1 and 7 years, and 6 (18%) thereafter. Eight (23.5%) had no clinical symptoms at the time of diagnosis. Indications for diagnostics were a positive family history in three (9%), hyperCKemia in eight (23.5%), motor developmental delay in three (9%), and muscle weakness and/or pain in 17 (50%). Rare clinical signs were failure to thrive, recurrent diarrhea, and suspected hepatopathy with glycogen storage. Thirty-two different mutations were identified. Twenty-seven patients (79.5%) carried the milder c.32–13T > G mutation, known to be associated with a broad range of phenotypes. Three out of eight patients manifesting within the first year of life showed generalized muscle weakness, hypertrophic cardiomyopathy, and had to be ventilated during the course of disease, thereby demonstrating clinical overlap with infantile onset Pompe disease.These findings demonstrate that the phenotype of JOPD is broad and that the differential is not only restricted to neuromuscular disorders. Genotypic analysis was useful to delineate subjects with early onset JOPD from those with IOPD, but overall genotype–phenotype correlation was poor.

Investigating Dimensions of Stiffness in Rheumatoid and Psoriatic Arthritis: The Australian Rheumatology Association Database Registry and OMERACT Collaboration

2019 ◽  
Vol 46 (11) ◽  
pp. 1462-1469 ◽  
Author(s):  
Premarani Sinnathurai ◽  
Susan J. Bartlett ◽  
Serena Halls ◽  
Sarah Hewlett ◽  
Ana-Maria Orbai ◽  
...  
Keyword(s):  
Psoriatic Arthritis ◽  
Physical Function ◽  
Online Survey ◽  
Health Assessment ◽  
Strongly Correlated ◽  
Cognitive Debriefing ◽  
Telephone Interviews ◽  
Significant Difference ◽  
Patient Reported ◽  
Different Dimensions

Objective.It is not known how the experience of stiffness varies between diagnoses or how best to measure stiffness. The aims of our study were to (1) compare stiffness in psoriatic arthritis (PsA) and rheumatoid arthritis (RA) using patient-reported outcomes, (2) investigate how dimensions of stiffness are associated with each other and reflect the patient experience, and (3) analyze how different dimensions of stiffness are associated with physical function.Methods.An online survey was sent to Australian Rheumatology Association Database participants (158 PsA, and 158 age- and sex-matched RA), assessing stiffness severity, duration, impact, importance, coping, and physical function [modified Health Assessment Questionnaire (mHAQ)]. Scores were compared between diagnoses and correlations among stiffness dimensions calculated. Multivariate regression was performed for stiffness severity, impact, and duration on mHAQ, adjusting for age, sex, disease duration, obesity, and pain. Cognitive debriefing was conducted through semistructured telephone interviews.Results.Overall, 240/316 (75.9%) responded [124/158 RA (78.5%) and 116/158 PsA (73.4%)], with no significant difference in stiffness ratings between diagnoses. Scores for all stiffness dimensions were strongly correlated (r = 0.52–0.89), and severity and impact were associated with mHAQ in both diagnoses. Stiffness duration was not associated with mHAQ in RA. In cognitive debriefing, participants described stiffness severity and impact by their effect on daily activities (10/16 and 14/16 participants, respectively).Conclusion.Stiffness ratings were similar between PsA and RA. Different dimensions of stiffness were strongly correlated. Stiffness severity and impact both independently predicted mHAQ. Stiffness was important to participants; however, measuring multiple dimensions of stiffness may have minimal additive value.

scholarly journals Nationwide Online Survey Enables the Reevaluation of the Safety of Coleus forskohlii Extract Intake Based on the Adverse Event Frequencies

Nutrients ◽  
2019 ◽  
Vol 11 (4) ◽  
pp. 866 ◽  
Author(s):  
Chiharu Nishijima ◽  
Tsuyoshi Chiba ◽  
Yoko Sato ◽  
Keizo Umegaki
Keyword(s):  
Adverse Event ◽  
Online Survey ◽  
Gastrointestinal Symptoms ◽  
Coleus Forskohlii ◽  
Herbal Supplements ◽  
Online Surveys ◽  
Functional Ingredients ◽  
Post Marketing ◽  
The Relationship ◽  
Herbal Ingredient

The formulations of the functional ingredients of dietary supplements was studied with a small number of subjects, with a particular focus on their effectiveness, but not enough to evaluate their safety. In this regard, the reevaluation and estimation of the safe use of marketed products, with regards to their adverse event (AE) frequencies, are important. To address this issue, a post-marketing nationwide online survey was conducted for the herbal ingredient Coleus forskohlii extract (CFE), a popular weight-loss ingredient. The questionnaire included product names, adherence to the claimed amount, and AE experiences. The safe intake amount was estimated by the relationship between the claimed amount of CFE and the frequencies of AEs of each product. The number of users who experienced AEs was 75 (10.5% of all users). Gastrointestinal symptoms accounted for 92.0% (n = 69) of all AEs, and diarrhea alone accounted for 81.3% (n = 61). The amount of CFE was significantly associated with the occurrence of diarrhea (p = 0.005). The fitted curve showed that the safe intake amount of CFE was less than 250 mg/day; however, considering its effectiveness, 500 mg/day of CFE might be acceptable. In conclusion, nationwide online surveys of users enable us to confirm and reevaluate the safety of herbal supplements.

scholarly journals Reliability of Online Surveys in Investigating Perceptions and Impressions of Faces

2021 ◽  
Vol 12 ◽  
Author(s):  
Naoyasu Hirao ◽  
Koyo Koizumi ◽  
Hanako Ikeda ◽  
Hideki Ohira
Keyword(s):  
Laboratory Experiments ◽  
Online Survey ◽  
Reliability And Validity ◽  
Experimental Methods ◽  
Substantial Evidence ◽  
Online Surveys ◽  
Men And Women ◽  
Significant Difference ◽  
Physical Features

Online experimental methods are used in psychological studies investigating the perceptions and impressions of facial photographs, even without substantial evidence supporting their reliability and validity. Although, the quality of visual stimuli is more difficult to control remotely, the methods might allow us to obtain a large amount of data. Then the statistical analysis of a larger volume of data may reduce errors and suggest significant difference in the stimuli. Therefore, we analyzed the reliability and validity of online surveys in investigating the perceptions (shine, red, and dark) and impressions (attractiveness, trustworthy, and so on) of facial photographs created from averaged faces with skin tones modified using computer graphics (CG). In this study, we conducted online (Online1) and laboratory experiments with well-controlled conditions (Control). For each experiment, 50 participants (men and women in Japan, age: 20–59years) completed the same questionnaire regarding their impressions of the same 28 CG facial photographs. The results showed significant correlations between the two experiments for all 19 items in the questionnaire. SD in the Online1 compared to the Control from the stimuli and individual differences were 56–84 and 88–104% in each questionnaire items, respectively. Moreover, the rates of mismatching perceptual evaluations to the corresponding physical features demonstrated in the photographs were 4.9–9.7% on average in an additional online survey of another 2,000 participants (Online2). These results suggest that online surveys can be applied to experiments to investigate impressions from CG facial photographs instead of general laboratory experiment by obtaining an appropriate number of participants to offset larger statistical errors that may result from the increased noise in the data from conducting the experiment online.

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