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

Re-evaluation of the symptoms of Hirayama disease through anatomical perspective. 从解剖学角度重新评价平山病的症状。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-02-01 DOI: 10.5582/irdr.2022.01117

Bahar Tekin, Gamze Ansen, Tugrul Ormeci, Nesrin Helvaci Yilmaz, Bayram Ufuk Sakul

{"title":"Re-evaluation of the symptoms of Hirayama disease through anatomical perspective.","authors":"Bahar Tekin, Gamze Ansen, Tugrul Ormeci, Nesrin Helvaci Yilmaz, Bayram Ufuk Sakul","doi":"10.5582/irdr.2022.01117","DOIUrl":"https://doi.org/10.5582/irdr.2022.01117","url":null,"abstract":"Hirayama disease is a rare disease of the anterior horn motor neuron caused by compression of the cervical spinal cord when the neck is flexed. Cervical myelopathy may accompany the disease. It is characterized by symmetrical or asymmetrical muscle weakness and atrophy of muscles innervated by lower cervical and upper thoracic motor neurons. We recorded two male cases of Hirayama disease between the ages of 15 and 21 based on magnetic resonance imaging (MRI) features obtained from the cervical neutral state and from the flexion position which appeared in the right upper extremity. Loss of strength and atrophy in the right upper extremities was existent in clinical findings of these patients. When MRI was taken in the flexion position, there were dilated veins as hypointense signal void on T2 weighted series in posterior epidural area. The contrast enhancement was seen on these veins. It was observed that the posterior dura was displaced anteriorly and the anterior subarachnoid space was narrow. In cases which show clinical findings such as atrophy and loss of strength, having normal MRI results obtained in the neutral position makes it difficult to diagnose Hirayama Disease. In case of a suspicion of Hirayama disease the diagnosis can be made more easily by MRI taken in the flexion position. These case reports aim to bring Hirayama disease to mind and optimize the management of affected individuals.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976093/pdf/irdr-12-62.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10848394","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

Recent deep learning models for dementia as point-of-care testing: Potential for early detection. 最近的深度学习模型用于痴呆的即时检测:早期发现的潜力。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-02-01 DOI: 10.5582/irdr.2023.01015

Kenji Karako, Peipei Song, Yu Chen

{"title":"Recent deep learning models for dementia as point-of-care testing: Potential for early detection.","authors":"Kenji Karako, Peipei Song, Yu Chen","doi":"10.5582/irdr.2023.01015","DOIUrl":"https://doi.org/10.5582/irdr.2023.01015","url":null,"abstract":"Deep learning has been intensively researched over the last decade, yielding several new models for natural language processing, images, speech and time series processing that have dramatically improved performance. This wave of technological developments in deep learning is also spreading to medicine. The effective use of deep learning in medicine is concentrated in diagnostic imaging-related applications, but deep learning has the potential to lead to early detection and prevention of diseases. Physical aspects of disease that went unnoticed can now be used in diagnosis with deep learning. In particular, deep learning models for the early detection of dementia have been proposed to predict cognitive function based on various information such as blood test results, speech, and the appearance of the face, where the effects of dementia can be seen. Deep learning is a useful diagnostic tool, as it has the potential to detect diseases early based on trivial aspects before clear signs of disease appear. The ability to easily make a simple diagnosis based on information such as blood test results, voice, pictures of the body, and lifestyle is a method suited to point-of-cate testing, which requires immediate testing at the desired time and place. Over the past few years, the process of predicting disease can now be visualized using deep learning, providing insights into new methods of diagnosis.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976095/pdf/irdr-12-1.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10848395","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

Challenges associated with delayed definitive diagnosis among Japanese patients with specific intractable diseases: A cross-sectional study 日本特定难治性疾病患者延迟确诊的相关挑战:一项横断面研究

Intractable & rare diseases research Pub Date : 2023-01-01 DOI: 10.5582/irdr.2023.01068

Hiroyuki Tanaka, Mikiko Shimaoka

{"title":"Challenges associated with delayed definitive diagnosis among Japanese patients with specific intractable diseases: A cross-sectional study","authors":"Hiroyuki Tanaka, Mikiko Shimaoka","doi":"10.5582/irdr.2023.01068","DOIUrl":"https://doi.org/10.5582/irdr.2023.01068","url":null,"abstract":"This study aimed to determine the challenges that cause a delay in the diagnosis of Japanese patients with specific intractable diseases by means of a survey. We conducted a questionnaire survey involving 424 patients with 12 specific intractable diseases. Pearson's chi-square test was used to examine the relationship between diagnostic delay and each factor. The reasons for the diagnostic delay were analyzed. Pearson's chi-square test showed statistically significant differences in the relationship between the period to definitive diagnosis and period between symptom onset and first hospital visit (p = 0.002), and the period when the patients suspected the disease (p < 0.001). Reasons for diagnostic delay of these patients were patients' time constraints, problem in access to medical institutions, hesitancy in seeking medical attention, and healthcare system issues. Early definitive diagnosis of intractable diseases was hindered by several important issues. The resolution of these issues will require combined societal efforts as well as improvements in the healthcare system. The study revealed the need for improving patients' awareness about their disease, enabling patients to be proactive towards achieving a definitive diagnosis, and making improvements in the healthcare system regarding early diagnosis and care of patients with intractable diseases.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135104546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pathologic features and clinical treatment of sarcomatoid intrahepatic cholangiocarcinoma 肉瘤样肝内胆管癌的病理特点及临床治疗

Intractable & rare diseases research Pub Date : 2023-01-01 DOI: 10.5582/irdr.2023.01094

Xiaoli Xie, Nannan Lai, Yuanyuan Yang, Jinwei Zhang, Jianmin Qin, Xia Sheng

引用次数: 0

Circ_KIAA0922 regulates Saos-2 cell proliferation and osteogenic differentiation by regulating the miR-148a-3p/SMAD5 axis and activating the TGF-β signaling pathway Circ_KIAA0922通过调控miR-148a-3p/SMAD5轴，激活TGF-β信号通路，调控Saos-2细胞增殖和成骨分化

Intractable & rare diseases research Pub Date : 2023-01-01 DOI: 10.5582/irdr.2023.01076

Shanshan Zhang, Yongtao Zhang, Dan Yang, Wei Zhi, Junfeng Li, Meilin Liu, Yanqin Lu, Jinxiang Han

{"title":"Circ_KIAA0922 regulates Saos-2 cell proliferation and osteogenic differentiation by regulating the miR-148a-3p/SMAD5 axis and activating the TGF-β signaling pathway","authors":"Shanshan Zhang, Yongtao Zhang, Dan Yang, Wei Zhi, Junfeng Li, Meilin Liu, Yanqin Lu, Jinxiang Han","doi":"10.5582/irdr.2023.01076","DOIUrl":"https://doi.org/10.5582/irdr.2023.01076","url":null,"abstract":"Circular RNAs (circRNAs) are emerging as important regulators in human disease, but their function in osteoporosis (OP) is not sufficiently known. The aim of this study was to identify the possible molecular mechanism of circ_KIAA0922 in osteogenic differentiation of Saos-2 cells in vitro and the interactions among circ_KIAA0922, miR-148a-3p, and SMAD family member 5 (SMAD5). Circ_KIAA0922, miR-148a-3p, and SMAD5 were overexpressed by transient transfection. Dual-luciferase reporter assay system was used to analyze the combination among circ_KIAA0922, miR-148a-3p, and SMAD5. In addition, the levels of circ_KIAA0922, miR-148a-3p, SMAD5, osteocalcin (OCN), and runt-related transcription factor 2 (RUNX2) were detected using RT-qPCR or western blot analysis. Alizarin red staining was performed to analyze the degree of osteogenic differentiation under the control of circ_KIAA0922, miR-148a-3p, and SMAD5. We found that circ_KIAA0922 knockdown inhibited the proliferation and osteogenic differentiation of Saos-2 cells. Circ_KIAA0922 directly targeted miR-148a-3p, and miR-148a-3p inhibition reversed the effects of circ_KIAA0922 knockdown on the proliferation and osteogenic differentiation of Saos-2 cells. Overexpression of SMAD5 promoted the proliferation and osteogenic differentiation of Saos-2 cells and attenuated the inhibitory effect of miR-148a-3p on cell proliferation and osteogenic differentiation. In conclusion, circ_KIAA0922 facilitated Saos-2 cell proliferation and osteogenic differentiation via the circ_KIAA0922/miR-148a-3p/ SMAD5 axes in vitro, thus providing insights into the mechanism of osteogenic differentiation by circ_ KIAA0922.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135318176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Artificial intelligence technology in Alzheimer's disease research 人工智能技术在阿尔茨海默病研究中的应用

Intractable & rare diseases research Pub Date : 2023-01-01 DOI: 10.5582/irdr.2023.01091

Wenli Zhang, Yifan Li, Wentao Ren, Bo Liu

{"title":"Artificial intelligence technology in Alzheimer's disease research","authors":"Wenli Zhang, Yifan Li, Wentao Ren, Bo Liu","doi":"10.5582/irdr.2023.01091","DOIUrl":"https://doi.org/10.5582/irdr.2023.01091","url":null,"abstract":"Alzheimer's disease is a neurocognitive disorder and one of the contributing factors to dementia. According to the World Health Organization, this disease has a sig-nificant impact on the global population's health, with the number of affected individuals steadily increasing each year. Amidst rapid technological development, the use of artificial intelligence has significantly expanded into the field of medical diagnostics, encompassing areas such as the analysis of medical images, drug development, design of personalized treatment plans, and disease prediction and treatment. Deep learning, which is an important branch in the field of artificial intelligence, is playing a key role in solving several medical challenges by providing important technical support for the early detection, diagnosis, and treatment of Alzheimer's disease. Given this context, this review aims to explore the differences between conventional methods and artificial intelligence techniques in Alzheimer's disease research. Additionally, it aims to summarize current non-invasive and portable techniques for detection of Alzheimer's disease, offering support and guidance for the future prediction and management of the disease.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135104542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Release and impact of China's "Second List of Rare Diseases" 中国《罕见病第二目录》的发布及影响

Intractable & rare diseases research Pub Date : 2023-01-01 DOI: 10.5582/irdr.2023.01086

Mi Tang, Yan Yang, Ziping Ye, Peipei Song, Chunlin Jin, Qi Kang, Jiangjiang He

{"title":"Release and impact of China's \"Second List of Rare Diseases\"","authors":"Mi Tang, Yan Yang, Ziping Ye, Peipei Song, Chunlin Jin, Qi Kang, Jiangjiang He","doi":"10.5582/irdr.2023.01086","DOIUrl":"https://doi.org/10.5582/irdr.2023.01086","url":null,"abstract":"On September 18, 2023, the National Health Commission of China officially announced the \"Second List of Rare Diseases\". This list of 86 rare diseases, drafted in accordance with the \"Working Procedures for Drafting the List of Rare Diseases\", marks the second release of a rare disease list since the initial list was issued in May 2018. Following the release of the first batch, the Chinese Government introduced various policies to enhance the diagnosis and treatment of rare diseases, to promote the research on, development of, production of, and availability of rare disease medications in China, and to improve medication access for patients with rare diseases. Consequently, this has elevated the level of rare disease diagnosis and treatment, ensuring greater accessibility to treatment for affected individuals. The expansion of the rare disease list through the release of the \"Second List of Rare Diseases\" will further enhance rare disease management, increase awareness, improve diagnosis and treatment, facilitate the development and availability of more rare disease medications, establish a comprehensive support system for patients with rare diseases, and ultimately benefit a larger number of individuals affected by rare diseases. The definition of rare diseases in China should be refined by explicitly establishing corresponding criteria based on incidence, prevalence, or the number of affected individuals. Additionally, the mechanism for removal of diseases from rare disease lists should be enhanced, and prompt adjustments should be made regarding diseases that do not align with the selection principles of the list, taking into consideration environmental changes.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136207670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identification of novel and de novo GABRB1 mutation in Chinese patient with developmental and epileptic encephalopathy 45 鉴定novel和de novo GABRB1中国发育性和癫痫性脑病患者的基因突变

Intractable & rare diseases research Pub Date : 2023-01-01 DOI: 10.5582/irdr.2023.01092

Shanshan Zhang, Yu Wang, Meilin Liu, Zhaoli Du, Yanqin Lu, Ping Sun, Jinxiang Han

{"title":"Identification of novel and de novo GABRB1 mutation in Chinese patient with developmental and epileptic encephalopathy 45","authors":"Shanshan Zhang, Yu Wang, Meilin Liu, Zhaoli Du, Yanqin Lu, Ping Sun, Jinxiang Han","doi":"10.5582/irdr.2023.01092","DOIUrl":"https://doi.org/10.5582/irdr.2023.01092","url":null,"abstract":"Developmental and epileptic encephalopathy 45 (DEE45) is an autosomal dominant disease caused by variation in the gamma-aminobutyric acid type A receptor subunit beta 1 (GABRB1) gene. Affected individuals have severely impaired intellectual development, hypotonia, and other persistent neurological deficits. However, DEE45 is rare; only four infants with DEE45 have been reported worldwide and no case has been reported in China. Confirming a diagnosis of DEE45 is of great significance for guiding further treatment, assessing patient prognosis, and genetic counseling. The clinical characteristics of DEE45 and the medical history of DEE45 patients requires supplementation and clarification. Here, we present the clinical and genetic findings of a 7-year-old girl with DEE45 carrying a novel de novo GABRB1 mutation (c.858_859delinsTT, p.286_287delinsIleSer) identified by whole exome sequencing (WES). The mutation is phylogenetic conserved in the second helix of the β1-subunit's transmembrane region. Western blot and RT-qPCR both indicated significant increase in the expression levels of GABRB1 mutant when compared with wild. The proband has epileptic encephalopathy and experienced refractory epilepsy onset at age 2 months and showed developmental delay at age 8 months. Electroencephalography (EEG) displayed hypsarrhythmia. Magnetic resonance imaging (MRI) showed no significant abnormalities in the internal structure of the patient's brain, which is displayed in two previously reported cases. The patient's symptoms of hypotonia, ataxia, profound mental retardation, and dysmetria became evident with development. In summary, we report the genetic and clinical characteristics of the first Chinese patient with DEE45 and explores the relationship between mutation and clinical symptoms.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135448373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Expression of collagen-related piRNA is dysregulated in cultured dermal fibroblasts derived from patients with scleroderma 胶原相关piRNA在硬皮病患者培养的真皮成纤维细胞中表达失调

Intractable & rare diseases research Pub Date : 2023-01-01 DOI: 10.5582/irdr.2023.01056

Minako Tanaka, Yutaka Inaba, Azusa Yariyama, Yumi Nakatani, Kayo Kunimoto, Chikako Kaminaka, Yuki Yamamoto, Katsunari Makino, Satoshi Fukushima, Masatoshi Jinnin

{"title":"Expression of collagen-related piRNA is dysregulated in cultured dermal fibroblasts derived from patients with scleroderma","authors":"Minako Tanaka, Yutaka Inaba, Azusa Yariyama, Yumi Nakatani, Kayo Kunimoto, Chikako Kaminaka, Yuki Yamamoto, Katsunari Makino, Satoshi Fukushima, Masatoshi Jinnin","doi":"10.5582/irdr.2023.01056","DOIUrl":"https://doi.org/10.5582/irdr.2023.01056","url":null,"abstract":"PIWI-interacting RNA (piRNA) is a class of recently discovered small non-coding RNAs. piRNAs derive from an initial transcript encompassing a piRNA cluster via a unique biosynthesis process, interact with PIWI proteins, bind to specific targets, and recruit chromatin modifiers to enable transcriptional repression. Abnormal expression of PIWI proteins and piRNAs has been reported in some human cancers, with participation of some PIWI/piRNAs complexes in tumorigenesis and association with cancer prognosis. Their expression in patients with systemic sclerosis (SSc) has not been widely elucidated. PIWI/piRNAs and their role in the pathogenesis of collagen accumulation in SSc was therefore investigated; no difference was found in the PIWIL1-4 levels between normal and cultured SSc dermal fibroblasts. Among piRNAs predicted to target SSc-related molecules, we first found significant piR-32364 up-regulation in SSc dermal fibroblasts, likely due to intrinsic TGF-βsignaling. Forced piR-32364 overexpression in normal fibroblasts significantly reduced COL1A1 expression both at mRNA and protein levels, but not COL1A2. Thus, piR-32364 overexpression in SSc fibroblasts may be the negative feedback against collagen up-regulation, which could suggest the potential of piRNAs as a therapeutic target.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135104534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Insights into clinical diagnosis and treatment of malignant hepatic perivascular epithelioid cell tumor. 恶性肝血管周围上皮样细胞瘤的临床诊断与治疗体会。

IF 1.3

Intractable & rare diseases research Pub Date : 2022-11-01 DOI: 10.5582/irdr.2022.01111

Zhongyu Li, Yongzhi Zhou, Chaoqun Wang, Hongjun Yu, Guangchao Yang, Yong Ma

引用次数: 0