Extra-muscular manifestations in GNE myopathy patients: A nationwide repository questionnaire survey in Japan

Abstract Background GNE myopathy is a rare autosomal recessive adult-onset distal myopathy caused by biallelic pathogenic variants in GNE. Although some complications associated with GNE myopathy have been reported, little is known about whether they are disease-specific and how often they present. This study aimed to characterize complications of GNE myopathy. Methods We conducted a questionnaire survey of GNE myopathy patients registered in a national registry in Japan. The questionnaire requested information regarding immune thrombocytopenia (ITP), cardiac involvement, respiratory involvement, sleep apnea syndrome (SAS), and psychiatric diseases. Results The response rate was 62.4% (126/198), yielding a total of 51 male and 75 female participants. Of the participants, 4.1% (5/123) had a diagnosis of ITP, and 16.3% (8/49) of males and 6.6% of females (5/76) had a diagnosis of SAS. In total, 0.8% (1/126) of participants had pervasive developmental disorder and 14.7% (16/109) had a psychiatric disease. Conclusion The frequencies of ITP and SAS among Japanese GNE myopathy patients were higher than those observed in the general Japanese population. Routine blood tests and evaluation of sleep-disordered breathing should be considered in order to better manage GNE myopathy patients.

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Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-020-01487-5 ◽

2020 ◽

Vol 15 (1) ◽

Author(s):

Wakako Yoshioka ◽

Naoyuki Miyasaka ◽

Ryo Okubo ◽

Reiko Shimizu ◽

Yuji Takahashi ◽

...

Keyword(s):

Disease Progression ◽

Questionnaire Survey ◽

Case Reports ◽

National Registry ◽

Maternal Complications ◽

Gne Myopathy ◽

Threatened Abortion ◽

Newborn Complications ◽

The Impact ◽

Post Onset

Abstract Background GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progression after delivery or obstetric complications. Objective This study aimed to reveal maternal complications, newborn complications, and the impact of pregnancy on disease progression in GNE myopathy patients. Methods We conducted a questionnaire survey on pregnancy, delivery, and newborns involving female GNE myopathy patients who are currently registered in a national registry in Japan. Results The response rate for the questionnaire survey was 60.0% (72/120). Of the 72 respondents, 44 (61.1%) had pregnancy experience (average, 1.8 pregnancies; 53 pregnancies before onset and 28 after onset). The incidence of threatened abortion was 26.9% among post-onset pregnancies, which was higher compared to those of the general Japanese population (p = 0.03). No other maternal or infant complications were commonly observed. Over 80% were unaware of changes in disease progression during pregnancy (mean age, 32.8 ± 3.5 years) or after delivery (32.9 ± 3.8 years), while 19.0% experienced disease exacerbation within a year after delivery (30.0 ± 1.0 years). Six patients developed myopathy within a year after delivery (29.7 ± 4.6 years), while none developed myopathy during pregnancy. Conclusions There were no serious maternal or newborn complications, and subjective progression did not differ during or after delivery in the majority of GNE myopathy patients. However, our findings suggest the importance of considering the possibility of threatened abortion and disease progression after delivery.

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Pregnancy in GNE Myopathy Patients: A Nationwide Repository Survey in Japan

10.21203/rs.3.rs-33389/v1 ◽

2020 ◽

Author(s):

Wakako Yoshioka ◽

Naoyuki Miyasaka ◽

Ryo Okubo ◽

Reiko Shimizu ◽

Yuji Takahashi ◽

...

Keyword(s):

Disease Progression ◽

Questionnaire Survey ◽

Case Reports ◽

National Registry ◽

Maternal Complications ◽

Gne Myopathy ◽

Threatened Abortion ◽

Newborn Complications ◽

The Impact ◽

Post Onset

Abstract Background: GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, none have examined progression after delivery or obstetric complications. Objective: This study aimed to reveal maternal complications, newborn complications, and the impact of pregnancy on disease progression in GNE myopathy patients. Methods: We conducted a questionnaire survey on pregnancy, delivery, and newborns involving female GNE myopathy patients who are currently registered in a national registry in Japan.Results: The response rate for the questionnaire survey was 60.0% (72/120). Of the 72 respondents, 44 (61.1%) had pregnancy experience (average, 1.8 pregnancies; 53 pregnancies before onset and 28 after onset). The incidence of threatened abortion was 26.9% among post-onset pregnancies, which was higher compared to those of the general Japanese population (p=0.03). No other maternal or infant complications were commonly observed. Over 80% were unaware of changes in disease progression during pregnancy or after delivery, while 19.0% experienced disease exacerbation within a year after delivery. Six patients developed myopathy within a year after delivery, while none developed myopathy during pregnancy.Conclusions: There were no serious maternal or newborn complications, and subjective progression did not differ during or after delivery in the majority of GNE myopathy patients. However, our findings suggest the importance of considering the possibility of threatened abortion and disease progression after delivery.

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A Questionnaire Survey of Current Rehabilitation Practices for Adults With Normal Hearing Sensitivity Who Experience Auditory Difficulties

American Journal of Audiology ◽

10.1044/2020_aja-20-00027 ◽

2020 ◽

Vol 29 (4) ◽

pp. 738-761

Author(s):

Tess K. Koerner ◽

Melissa A. Papesh ◽

Frederick J. Gallun

Keyword(s):

Hearing Aids ◽

Questionnaire Survey ◽

Patient Population ◽

Clinical Care ◽

Normal Hearing ◽

Auditory Training ◽

Training Methods ◽

Hearing Sensitivity ◽

Considerable Benefit ◽

High Level

Purpose A questionnaire survey was conducted to collect information from clinical audiologists about rehabilitation options for adult patients who report significant auditory difficulties despite having normal or near-normal hearing sensitivity. This work aimed to provide more information about what audiologists are currently doing in the clinic to manage auditory difficulties in this patient population and their views on the efficacy of recommended rehabilitation methods. Method A questionnaire survey containing multiple-choice and open-ended questions was developed and disseminated online. Invitations to participate were delivered via e-mail listservs and through business cards provided at annual audiology conferences. All responses were anonymous at the time of data collection. Results Responses were collected from 209 participants. The majority of participants reported seeing at least one normal-hearing patient per month who reported significant communication difficulties. However, few respondents indicated that their location had specific protocols for the treatment of these patients. Counseling was reported as the most frequent rehabilitation method, but results revealed that audiologists across various work settings are also successfully starting to fit patients with mild-gain hearing aids. Responses indicated that patient compliance with computer-based auditory training methods was regarded as low, with patients generally preferring device-based rehabilitation options. Conclusions Results from this questionnaire survey strongly suggest that audiologists frequently see normal-hearing patients who report auditory difficulties, but that few clinicians are equipped with established protocols for diagnosis and management. While many feel that mild-gain hearing aids provide considerable benefit for these patients, very little research has been conducted to date to support the use of hearing aids or other rehabilitation options for this unique patient population. This study reveals the critical need for additional research to establish evidence-based practice guidelines that will empower clinicians to provide a high level of clinical care and effective rehabilitation strategies to these patients.

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The use of NSAIDs in asthmatic children: a questionnaire survey

Pediatric Anesthesia ◽

10.1046/j.1460-9592.1999.00411.x ◽

1999 ◽

Vol 9 (4) ◽

pp. 367-370 ◽

Cited By ~ 1

Author(s):

B.T. Williams ◽

I. Wilson ◽

K. Brownlee

Keyword(s):

Questionnaire Survey ◽

Asthmatic Children

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Questionnaire survey of celiac disease and non-celiac gluten sensitivity in outpatients' cohorts of three Hungarian gastroenterology referral centres

Zeitschrift für Gastroenterologie ◽

10.1055/s-0035-1551867 ◽

2015 ◽

Vol 53 (05) ◽

Cited By ~ 1

Author(s):

D Kocsis ◽

J Bajor ◽

M Papp ◽

P Miheller ◽

L Herszényi ◽

...

Keyword(s):

Celiac Disease ◽

Questionnaire Survey ◽

Gluten Sensitivity

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A questionnaire survey on the selection of contraception methods by two students religious groups. Preliminary results

10.1055/s-0040-1718097 ◽

2020 ◽

Author(s):

A Chalil Bourazan ◽

A Chalkidou ◽

A Bothou ◽

P Tsikouras

Keyword(s):

Questionnaire Survey ◽

Religious Groups ◽

Preliminary Results ◽

Selection Of

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Consumption Emotions and Consumer Values among Turkish Consumers during the COVID-19 Pandemic

TRANSNATIONAL MARKETING JOURNAL ◽

10.33182/tmj.v8i2.1173 ◽

2020 ◽

Vol 8 (2) ◽

pp. 135-160

Author(s):

Nevin Karabiyik Yerden

Keyword(s):

Questionnaire Survey ◽

Sampling Method ◽

Significant Positive Effect ◽

Consumption Emotions ◽

The World ◽

Consumer Values ◽

Convenience Sampling ◽

Business Structures ◽

Consumer Lifestyles ◽

Positive Effect

The COVID 19 pandemic created economic havoc around the world. Along with healthcare challenges, the pandemic has also been changing consumer lifestyles. It affects business structures and service delivery too. This article draws on an investigation of the effect of consumption emotions of Turkish consumers on consumer values during the COVID 19 Pandemic. A convenience sampling method was adopted in the study and a questionnaire survey was administered to collect 390 consumer cases. The results show that the consumption emotions of Turkish consumers during the COVID 19 Pandemichad a significant positive effect on consumer values. It was found that Turkish consumers were to feel anxiety, calmness and hope more often than not during the pandemic.

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