Intractable & rare diseases research最新文献_第7页

Trust in physicians and definitive diagnosis time among Japanese patients with specific intractable diseases: A cross-sectional study. 日本特定难治性疾病患者对医生的信任和明确诊断时间:一项横断面研究

IF 1.3

Intractable & rare diseases research Pub Date : 2023-05-01 DOI: 10.5582/irdr.2023.01017

Hiroyuki Tanaka, Mikiko Shimaoka

{"title":"Trust in physicians and definitive diagnosis time among Japanese patients with specific intractable diseases: A cross-sectional study.","authors":"Hiroyuki Tanaka, Mikiko Shimaoka","doi":"10.5582/irdr.2023.01017","DOIUrl":"https://doi.org/10.5582/irdr.2023.01017","url":null,"abstract":"Trust in physicians is an important metric in shared decision-making. Many patients with rare diseases experience misdiagnosis or delayed diagnosis because of difficulties in diagnosis or access to specialists. What impact do these have on trust in physicians? This study focused on patients with rare diseases, evaluated the effects of a delayed diagnosis and misdiagnosis on trust in physicians, and clarified the backgrounds of patients who have experienced delayed diagnoses. Patients with any of the 334 intractable diseases in Japan were registered, and a questionnaire survey was conducted on 1,000 valid registrations. Scores were calculated on a five-point Likert scale, and Cronbach's alpha coefficient was calculated to determine internal consistency, which was 0.973. Independent sample t-tests and analysis of variance were used to compare average trust scores based on patient demographics. The mean trust in physician score of patients who waited ≤ 1 year until definitive diagnosis was 47.66 ± 11.69, while those of patients who waited > 1 year was 45.07 ± 11.63 (p = 0.004). The average trust scores of patients with or without a misdiagnosis were 46.69 ± 11.96 and 47.22 ± 11.65 (p = 0.550), respectively. Among patients with time to a definitive diagnosis of > 1 year, 62.8% had a period from symptom onset to initial hospital visit of > 1 year. A longer time to definitive diagnosis lowered the degree of trust in physicians. Many patients who experienced delayed diagnoses also had a long time from symptom onset to the initial medical visit. This aspect is important for understanding the background of patients who experienced delayed definitive diagnoses.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 2","pages":"97-103"},"PeriodicalIF":1.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242396/pdf/irdr-12-97.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9598743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Molecular genetics and general management of androgen insensitivity syndrome. 雄激素不敏感综合征的分子遗传学和一般管理。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-05-01 DOI: 10.5582/irdr.2023.01024

Zhongzhong Chen, Pin Li, Yiqing Lyu, Yaping Wang, Kexin Gao, Jing Wang, Fuying Lan, Fang Chen

{"title":"Molecular genetics and general management of androgen insensitivity syndrome.","authors":"Zhongzhong Chen, Pin Li, Yiqing Lyu, Yaping Wang, Kexin Gao, Jing Wang, Fuying Lan, Fang Chen","doi":"10.5582/irdr.2023.01024","DOIUrl":"https://doi.org/10.5582/irdr.2023.01024","url":null,"abstract":"Androgen insensitivity syndrome (AIS) is a rare genetic disorder that affects the development of the male reproductive system in individuals with a 46,XY karyotype. In addition to physical impacts, patients with AIS may face psychological distress and social challenges related to gender identity and acceptance. The major molecular etiology of AIS results from hormone resistance caused by mutations in the X-linked androgen receptor (AR) gene. Depending on the severity of androgen resistance, the wide spectrum of AIS can be divided into complete AIS (CAIS), partial AIS (PAIS), or mild AIS (MAIS). Open issues in the treatment and management of AIS include decisions about reconstructive surgery, genetic counseling, gender assignment, timing of gonadectomy, fertility and physiological outcomes. Although new genomic approaches have improved understanding of the molecular causes of AIS, identification of individuals with AIS can be challenging, and molecular genetic diagnosis is often not achievable. The relationship between AIS genotype and phenotype is not well established. Therefore, the optimal management remains uncertain. The objective of this review is to outline the recent progress and promote understanding of AIS related to the clinical manifestation, molecular genetics and expert multidisciplinary approach, with an emphasis on genetic etiology.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 2","pages":"71-77"},"PeriodicalIF":1.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242393/pdf/irdr-12-71.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9597269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Pseudoxanthoma elasticum is associated with cardiocirculatory inefficiency. 弹性假性黄瘤与心脏循环效率低下有关。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-05-01 DOI: 10.5582/irdr.2023.01014

Carmen Pizarro, Max Jonathan Stumpf, Luisa Staberock, Christian Alexander Schaefer, Nadjib Schahab, Georg Nickenig, Dirk Skowasch

{"title":"Pseudoxanthoma elasticum is associated with cardiocirculatory inefficiency.","authors":"Carmen Pizarro, Max Jonathan Stumpf, Luisa Staberock, Christian Alexander Schaefer, Nadjib Schahab, Georg Nickenig, Dirk Skowasch","doi":"10.5582/irdr.2023.01014","DOIUrl":"https://doi.org/10.5582/irdr.2023.01014","url":null,"abstract":"Pseudoxanthoma elasticum (PXE) is a rare, genetic, metabolic disease characterized by dystrophic calcification of elastic fibres in the skin, retina and vascular wall. Data on cardiac involvement are inconsistent. Hence, we aimed to evaluate cardiorespiratory response to incremental cardiopulmonary exercise testing (CPET) in PXE. A total of 30 PXE patients (54.0 ± 11.2 years, 40.0% male) and 15 matched controls underwent symptom-limited incremental CPET. PXE patients presented an impaired peak work rate as compared to controls (84.2 ± 16.0% vs. 94.7 ± 10.4%, p = 0.03) that was accompanied by a lower peak oxygen uptake (in % predicted and mL/min/kg), reduced increments in oxygen uptake per increments of work rate (ΔV´O2/ΔWR, 8.4 ± 3.0 mL/min/W vs. 11.3 ± 4.9 mL/ min/W, p = 0.02), lower peak oxygen pulse (78.0 ± 12.3% vs. 90.6 ± 19.6%, p = 0.01) and reduced minute ventilation at peak exercise (V´E, 66.2 ± 16.8% vs. 82.9 ± 25.2%, p = 0.02). To summarize, we presently observed impairment in mainly cardiocirculatory parameters, whilst no substantial ventilatory limitation was detected. The potential implications of this finding for PXE management warrant further study.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 2","pages":"126-128"},"PeriodicalIF":1.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242397/pdf/irdr-12-126.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9597271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IF 1.3

Intractable & rare diseases research Pub Date : 2023-05-01 DOI: 10.5582/irdr.2023.01003

Irune García, Oscar Martínez, Juan Francisco López-Paz, Monika Salgueiro, Alicia Aurora Rodríguez, Janire Zorita, Maddalen García-Sanchoyerto, Imanol Amayra

{"title":"Health-related quality of life (HRQoL) and psychological impact of the COVID-19 pandemic on patients with myasthenia gravis.","authors":"Irune García, Oscar Martínez, Juan Francisco López-Paz, Monika Salgueiro, Alicia Aurora Rodríguez, Janire Zorita, Maddalen García-Sanchoyerto, Imanol Amayra","doi":"10.5582/irdr.2023.01003","DOIUrl":"https://doi.org/10.5582/irdr.2023.01003","url":null,"abstract":"The aim of this study was to compare the effects of the pandemic on health-related quality of life (HRQoL), anxious-depressive symptoms, feelings of loneliness, and fear of COVID-19 between people with myasthenia gravis (MG) and healthy controls. We also wanted to know in which group the variable fear of COVID-19 interfered the most with the results. This cross-sectional study involved 60 people with MG and 60 healthy controls. Participants using an online platform completed a sociodemographic questionnaire, the Short Form-36 Health Survey (SF-36), the Hospital Anxiety and Depression Scale (HADS), the revised UCLA Loneliness Scale and the Fear of COVID19 Scale (FCV- 19S). The MG group reported worse levels in HRQoL indicators (p = 0.043- <.001), more severe anxiety-depressive symptoms (p = 0.002), and greater fear of COVID-19 (p < 0.001), but there were no differences in feelings of loneliness (p = 0.002). Furthermore, after controlling for the effect of the fear of COVID-19 variable, the differences remained for physical health indicators, but not for the most of psychosocial indicators (Social Functioning p = 0.102, η2p = 0.023; Role Emotional p = 0.250, η2p = 0.011; and HADS Total p = 0.161, η2p = 0.017). The harmful effect of the COVID-19 pandemic was greater in the MG group, and the perceived fear of COVID-19 had also a greater impact among this group, which has increased its negative effect on their psychosocial health.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 2","pages":"88-96"},"PeriodicalIF":1.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242395/pdf/irdr-12-88.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9971643","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evaluation of the efficacy and safety of pegloticase for the treatment of chronic refractory gout through meta-analysis. 通过荟萃分析评价pegloticase治疗慢性难治性痛风的疗效和安全性。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-05-01 DOI: 10.5582/irdr.2022.01131

Tianci Fan, Yifan Wang, Tongqing Song, Yan Sun

{"title":"Evaluation of the efficacy and safety of pegloticase for the treatment of chronic refractory gout through meta-analysis.","authors":"Tianci Fan, Yifan Wang, Tongqing Song, Yan Sun","doi":"10.5582/irdr.2022.01131","DOIUrl":"https://doi.org/10.5582/irdr.2022.01131","url":null,"abstract":"Gout is the most common arthritis that affects more than 2% of adults in developed countries. 3% to 4% of gout is chronic refractory gout. Conventional treatments are considered invalid. A new drug, pegloticase is used to treat chronic refractory gout, and there are still many questions about efficacy and safety. We searched PubMed, web of science, and the Cochrane Library. Preprints and references of related literature were also considered. Related efficacy and safety indicators were statistically analyzed by Review Manager 5.4 to conduct meta-analysis. A total of one article and one clinical trial were included. Pegloticase is able to reduce serum uric acid and reduce tender joints, thereby improving joint function. But pegloticase has more adverse events. Pegloticase can be used to treat chronic refractory gout. However, Pegloticase has a higher risk of adverse events. Considering the efficacy and safety, the scope of clinical applications of pegloticase can be further widened in patients in good medical condition.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 2","pages":"114-117"},"PeriodicalIF":1.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242394/pdf/irdr-12-114.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9590921","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Urogenital sinus malformation: From development to management. 泌尿生殖窦畸形:从发育到治疗。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-05-01 DOI: 10.5582/irdr.2023.01027

Yu Ding, Yaping Wang, Yiqing Lyu, Hua Xie, Yichen Huang, Min Wu, Fang Chen, Zhongzhong Chen

引用次数: 0

Treat to target and tight control: Could be a new approach in the treatment of sarcoidosis? 靶向治疗和严格控制:可能是结节病治疗的新途径吗?

IF 1.3

Intractable & rare diseases research Pub Date : 2023-02-01 DOI: 10.5582/irdr.2022.01123

Senol Kobak

{"title":"Treat to target and tight control: Could be a new approach in the treatment of sarcoidosis?","authors":"Senol Kobak","doi":"10.5582/irdr.2022.01123","DOIUrl":"https://doi.org/10.5582/irdr.2022.01123","url":null,"abstract":"Sarcoidosis is a chronic granulomatous disease with multisystemic involvement. Although it is accepted as a benign disease, it can sometimes cause life-threatening organ (heart, brain) involvement that determines the prognosis of the disease. There are conflicting opinions about the treatment of the disease. In the generally accepted treatment approach the \"step-by-step\" model has gained weight. According to this approach, corticosteroids (CS) drugs alone are preferred in the first step in patients who require treatment. In the second step, immunosuppressive drugs (IS) are used in patients who do not respond to CS and/or have contraindications to CS use, and biologics (TNF-alpha inhibitors) are used in the third step. This treatment approach may be valid in cases with mild sarcoidosis. However, although sarcoidosis is considered a benign and self-limiting disease in some major organ involvement, the \"step-by-step\" approach may be a treatment option that puts the patient's life in danger. In such selected patients, much more rigorous, early and combined treatment approaches that definitely include CS, IS or biologic drugs may be required. In selected sarcoidosis patients with high risk, early diagnosis, \"treat-to-target\" (T2T) and \"tight control\" follow-up of patients seems to be a rational approach. This article reviews the \"step-down\" treatment regimens in light of recent literature data and hypothesizes that the T2T model may be a probable new treatment approach in patients with sarcoidosis.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 1","pages":"22-28"},"PeriodicalIF":1.3,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976097/pdf/irdr-12-22.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10281618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Dent disease manifesting as nephrotic syndrome. 表现为肾病综合征的凹痕病。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-02-01 DOI: 10.5582/irdr.2022.01125

Qiaoping Chen, Yongzhen Li, Xiaochuan Wu

{"title":"Dent disease manifesting as nephrotic syndrome.","authors":"Qiaoping Chen, Yongzhen Li, Xiaochuan Wu","doi":"10.5582/irdr.2022.01125","DOIUrl":"https://doi.org/10.5582/irdr.2022.01125","url":null,"abstract":"Dent disease is an X-linked recessive renal tubular disorder, which is mainly caused by mutations of the CLCN5 gene and OCRL gene. It is characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis or nephrolithiasis, and progressive renal failure. Nephrotic syndrome is a glomerular disorder characterized by massive proteinuria, hypoalbuminemia, edema, and hyperlipidemia. In this study, we report two cases of Dent disease manifesting as nephrotic syndrome. Two patients were initially diagnosed with nephrotic syndrome due to edema, nephrotic range proteinuria, hypoalbuminemia, and hyperlipidemia, and responded to prednisone and tacrolimus therapy. Genetic testing revealed mutations in the OCRL and CLCN5 genes. They were eventually diagnosed with Dent disease. Nephrotic syndrome is a rare and insidious phenotype of Dent disease, and its pathogenesis is not fully understood. Patients with nephrotic syndrome are recommended to routinely undergo urinary protein classification and urinary calcium testing, especially those with frequently recurrent nephrotic syndrome and poor response to steroid and immunosuppressive therapy. To date, there is no effective drug treatment for Dent disease. About 30% to 80% of patients progress to end-stage renal disease at the age of 30-50.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 1","pages":"67-70"},"PeriodicalIF":1.3,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976091/pdf/irdr-12-67.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9410781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Type XV osteogenesis imperfecta: A novel mutation in the WNT1 gene, c.620G >A (p.R207H), is associated with an inner ear deformity. XV型成骨不全:WNT1基因c.620G >A (p.R207H)的一种新突变与内耳畸形有关。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-02-01 DOI: 10.5582/irdr.2022.01099

Jicai Zhu, Kai Liu, Shan He, Zihao Yang, Jiaying Song, Yan Ju, Caiyun Xiong, Guomei Zhang, Wen Yang, Chunhui Tang

{"title":"Type XV osteogenesis imperfecta: A novel mutation in the WNT1 gene, c.620G >A (p.R207H), is associated with an inner ear deformity.","authors":"Jicai Zhu, Kai Liu, Shan He, Zihao Yang, Jiaying Song, Yan Ju, Caiyun Xiong, Guomei Zhang, Wen Yang, Chunhui Tang","doi":"10.5582/irdr.2022.01099","DOIUrl":"https://doi.org/10.5582/irdr.2022.01099","url":null,"abstract":"The Wnt signaling pathway is vital in encouraging bone growth. WNT1 gene mutations have been identified as the major cause of type XV osteogenesis imperfecta (OI). Described here is a case of complex heterozygous WNT1 c.620G>A (p.R207H) and c.677C >T (p.S226L) OI caused by a novel mutation at locus c.620G >A (p.R207H). The female patient had type XV OI, distinguished by poor bone density, frequent fractures, a small stature, skull softening, lack of dentine hypoplasia, a brain malformation, and obvious blue sclera. A CT scan of the temporal bone revealed abnormalities of the inner ear, necessitating a hearing aid 8 months after birth. There was no family history of such disorders in the proband's parents. The proband inherited complex heterozygous WNT1 gene variants c.677C>T (p.S226L) and c.620G>A (p.R207H) from her father and mother, respectively. Presented here is a case of OI with inner ear deformation caused by c.620G>A (p.R207H), which is a novel WNT1 site mutation. This case broadens the genetic spectrum of OI and it provides a rationale for genetic testing of mothers and a medical consultation to estimate the risk of fetal illness.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 1","pages":"58-61"},"PeriodicalIF":1.3,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976088/pdf/irdr-12-58.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9410784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Burden of illness seen in hereditary angioedema in Japanese patients: Results from a patient reported outcome survey. 日本遗传性血管性水肿患者的疾病负担:一项患者报告结果调查的结果。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-02-01 DOI: 10.5582/irdr.2022.01130

Beverley Yamamoto, Daisuke Honda, Isao Ohsawa, Kazumasa Iwamoto, Takahiko Horiuchi, Atsushi Fukunaga, Junichi Maehara, Kouhei Yamashita, Michihiro Hide

{"title":"Burden of illness seen in hereditary angioedema in Japanese patients: Results from a patient reported outcome survey.","authors":"Beverley Yamamoto, Daisuke Honda, Isao Ohsawa, Kazumasa Iwamoto, Takahiko Horiuchi, Atsushi Fukunaga, Junichi Maehara, Kouhei Yamashita, Michihiro Hide","doi":"10.5582/irdr.2022.01130","DOIUrl":"https://doi.org/10.5582/irdr.2022.01130","url":null,"abstract":"Hereditary angioedema (HAE) is a potentially life-threatening rare disease, which is mainly caused by the deficiency or dysfunction of C1-esterase inhibitor, and characterized by spontaneous, recurrent episodes of edema in various parts of the body including internal organs and the laryngeal area. Delayed diagnosis and treatment increase the burdens and risks of this condition. The current study aimed to understand the burden of illness for HAE patients in Japan before and after diagnosis through a patient reported outcome survey. A survey instrument was distributed to 121 adult patients with HAE by a patient organization via HAE treating physicians between July and November in 2016. Seventy patients (57.9%) returned the questionnaire. Patients reported high levels of medical resource utilization, including emergency procedures and services. Episodes of receiving laparotomy were somewhat less after diagnosis with HAE than before, but no apparent difference in episodes of tracheotomy between before and after the diagnosis. The economic burden, including direct and indirect medical costs, was highest before diagnosis, but still perceived as substantial after diagnosis. Patients reported disruption of work and school life, with 40% reporting that they miss 10 or more days from work or education per year. Sixty percent of patients reported that HAE affected their daily activities. We concluded that HAE is associated with considerable physical, social, economic and psycho-social burdens even after diagnosis, and that higher attack frequency is associated with a heavy disease burden for patients in Japan.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":"12 1","pages":"35-44"},"PeriodicalIF":1.3,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976089/pdf/irdr-12-35.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10848389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1