Intractable & rare diseases research最新文献

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KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure. KCNB1移码变体可导致遗传性智力残疾、发育迟缓和癫痫发作。
IF 1.3
Intractable & rare diseases research Pub Date : 2022-11-01 DOI: 10.5582/irdr.2022.01096
Eyyup Uctepe, Fatma Nisa Esen, Sait Tümer, Hanifenur Mancılar, Ahmet Yeşilyurt
{"title":"KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure.","authors":"Eyyup Uctepe,&nbsp;Fatma Nisa Esen,&nbsp;Sait Tümer,&nbsp;Hanifenur Mancılar,&nbsp;Ahmet Yeşilyurt","doi":"10.5582/irdr.2022.01096","DOIUrl":"https://doi.org/10.5582/irdr.2022.01096","url":null,"abstract":"<p><p>Potassium voltage-gated channel subfamily B member 1 (<i>KCNB1</i>) encodes Kv2.1 potassium channel. KCNB1 mutations are known to cause global developmental delay, behavioral disorders, and various epilepsies. Most variants occur de novo and are rarely inherited. Here, we report a 14-year-old male patient who was admitted to our clinic with seizures, developmental delay history, and intellectual disability. Brain magnetic resonance image (MRI) was normal and electroencephalogram (EEG) showed spike and sharp-wave complexes emerging in the left hemisphere parietooccipital areas, which were paroxysmally generalized. We performed whole exome sequence analysis (WES) and identified a heterozygous frameshift mutation c.522delA in exon 1 of <i>KCNB1</i> (NM_004975.4) predicting a premature stop codon p.Lys174Asnfs*20 in the proband. Sanger sequencing confirmed the heterozygous c.522delA mutation in the proband and his mother who also had epilepsy and learning difficulties. His 45 year old mother had used antiepileptic drugs for 9 years after a seizure episode at 12 years old. Also, his mother's uncle's son is nonverbal and has developmental delay and epilepsy. Our study shows that frameshift mutation cytoplasmic domain of <i>KCNB1</i> gene can cause intrafamilial phenotypic variability and relatively mild clinical findings in these patients.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709620/pdf/irdr-11-219.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40457021","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
Assessment of health-related quality of life in patients with spina muscular atrophy in China. 中国脊髓性肌萎缩症患者健康相关生活质量评估
IF 1.3
Intractable & rare diseases research Pub Date : 2022-11-01 DOI: 10.5582/irdr.2022.01094
Chengaxin Duan, Dandan Ai, Qian Xu, Binyan Sui, Kun Zhao
{"title":"Assessment of health-related quality of life in patients with spina muscular atrophy in China.","authors":"Chengaxin Duan,&nbsp;Dandan Ai,&nbsp;Qian Xu,&nbsp;Binyan Sui,&nbsp;Kun Zhao","doi":"10.5582/irdr.2022.01094","DOIUrl":"https://doi.org/10.5582/irdr.2022.01094","url":null,"abstract":"<p><p>Spinal muscular atrophy (SMA) is a rare disease that has attracted considerable interest in China due to its severity and hefty treatment costs. Few studies have been conducted on Chinese patients. The objective of this study was to assess the quality of life of SMA patients in China and to investigate the real impact of new treatments. We used the Pediatric Quality of Life Inventory (PedsQL) to analyze the Health-related quality of life (HRQoL) of patients with SMA in China. Information on demographics, disease-specific characteristics, and treatment were collected using a child-reported or proxy-reported questionnaire. The mean scores of HRQoL for the Nusinersen treatment group and conventional treatment groups are 55.6 and 48.4, respectively. Patients with SMA type I have the lowest scores, while those with type III have the highest scores. A higher proportion of the medication group showed improvement in the condition in the past six months (56.9% <i>vs.</i> 17.1%). Our results show that the clinical type, motor function and treatment strategy have a significant influence on HRQoL. The findings imply that Nusinersen benefits patients by slowing the progression of the disease and increasing their quality of life in the real world.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709625/pdf/irdr-11-189.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40556984","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
Monoclonal gammopathy of undetermined significance (MGUS) characterized by refractory lower gastrointestinal postoperative bleeding with coagulopathy. 以难治性下消化道术后出血伴凝血功能障碍为特征的未确定意义单克隆γ病(MGUS)。
IF 1.3
Intractable & rare diseases research Pub Date : 2022-11-01 DOI: 10.5582/irdr.2022.01120
Shuxia Zhang, Zhifen Chen, Meijuan Huang, Rong Zhan, Long Wu, Qian Zhang, Yu Lin, Weizhong Jiang, Pan Chi, Feng'e Yang
{"title":"Monoclonal gammopathy of undetermined significance (MGUS) characterized by refractory lower gastrointestinal postoperative bleeding with coagulopathy.","authors":"Shuxia Zhang,&nbsp;Zhifen Chen,&nbsp;Meijuan Huang,&nbsp;Rong Zhan,&nbsp;Long Wu,&nbsp;Qian Zhang,&nbsp;Yu Lin,&nbsp;Weizhong Jiang,&nbsp;Pan Chi,&nbsp;Feng'e Yang","doi":"10.5582/irdr.2022.01120","DOIUrl":"https://doi.org/10.5582/irdr.2022.01120","url":null,"abstract":"<p><p>Bleeding is a common complication after lower gastrointestinal surgery, and cases due to coagulation dysfunction are rare. The current authors encountered a 54-year-old Chinese man with refractory bleeding after endoscopic rectal polypectomy, and multiple endoscopic and surgical interventions failed to control that bleeding. An APTT mixing test could not be corrected and there was no evidence of autoimmune-related disease, so the presence of nonspecific antibodies was considered. After empiric therapy with a cyclophosphamide and glucocorticoid, APTT was corrected and gastrointestinal bleeding stopped. Based on laboratory results and therapeutic results, the patient was ultimately diagnosed with prolonged APTT induced by monoclonal gammopathy of undetermined significance (MGUS). MGUS and coagulopathy characterized by a prolonged APTT has rarely been reported. Here, studies noting elevated monoclonal immunoglobulins and coagulopathy have been reviewed. If a prolonged APTT of undetermined significance cannot be corrected with an APTT mixing test and if autoimmune-related factors are excluded, then plasma cell-related diseases such as MGUS need to be considered.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709621/pdf/irdr-11-206.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40458353","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
Comparison of current guidelines and consensus on the management of patients with cholangiocarcinoma: 2022 update. 胆管癌患者管理的现行指南和共识的比较:2022年更新。
IF 1.3
Intractable & rare diseases research Pub Date : 2022-11-01 DOI: 10.5582/irdr.2022.01109
Xinyi Zhang, Yulong Cai, Xianze Xiong, Ao Liu, Rongxin Zhou, Zhen You, Fuyu Li, Nansheng Cheng
{"title":"Comparison of current guidelines and consensus on the management of patients with cholangiocarcinoma: 2022 update.","authors":"Xinyi Zhang,&nbsp;Yulong Cai,&nbsp;Xianze Xiong,&nbsp;Ao Liu,&nbsp;Rongxin Zhou,&nbsp;Zhen You,&nbsp;Fuyu Li,&nbsp;Nansheng Cheng","doi":"10.5582/irdr.2022.01109","DOIUrl":"https://doi.org/10.5582/irdr.2022.01109","url":null,"abstract":"<p><p>As a consequence of breakthroughs in the area of guidelines research, the therapy for cholangiocarcinoma has significantly improved the efficacy rate of diagnosis and survival outcomes. We compared the most recently updated clinical practice guidelines and consensus to provide recommendations based on the diagnostic and therapeutic equipment available in various countries. Following a systematic review, we discovered that these guidelines and consensus had both similarities and differences in terms of what organizations or groups drafted the guidelines and the approach, applicability, content and recent updates of the guidelines as well as in terms of diagnostic and treatment algorithms. The disparities could be attributable to a variety of etiological factors, high risk patients, health resources, medical technology, treatment options, and income levels. Additionally, while complete adoption of guidelines may benefit physicians, patients, and authorities, there remains a disconnect between expected goals and implementation.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709616/pdf/irdr-11-161.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40557483","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: 6
The aberrant behavior profile in Indonesian individuals with fragile X syndrome with limited genetic services. 遗传服务有限的印度尼西亚脆性X综合征个体的异常行为特征。
IF 1.3
Intractable & rare diseases research Pub Date : 2022-11-01 DOI: 10.5582/irdr.2022.01075
Tri Indah Winarni, Tanjung Ayu Sumekar, Widodo Sarjana, Hardian Hardian, Randi J Hagerman, Sultana Mh Faradz
{"title":"The aberrant behavior profile in Indonesian individuals with fragile X syndrome with limited genetic services.","authors":"Tri Indah Winarni,&nbsp;Tanjung Ayu Sumekar,&nbsp;Widodo Sarjana,&nbsp;Hardian Hardian,&nbsp;Randi J Hagerman,&nbsp;Sultana Mh Faradz","doi":"10.5582/irdr.2022.01075","DOIUrl":"https://doi.org/10.5582/irdr.2022.01075","url":null,"abstract":"<p><p>Fragile X syndrome (FXS) is caused by the full mutation in the fragile x messenger ribonucleoprotein 1 (<i>FMR1</i>) gene leading to the absence of the fragile X protein (FXP). Previous studies show that individuals with FXS exhibit changing behavior over time; therefore, this study aimed to elucidate the aberrant behavior profile of FXS individuals. The Aberrant Behavior Checklist-Community (ABC-C) was used to measure the aberrant behavior profile of individuals with FXS, which was rated by the parent/caregiver combined with clinical impression. A total of 58 items were used to assess aberrant behaviors across five subscales. Forty-nine individuals with FXS were included (32 males, 17 females) with a mean age of 32.9 ± 14.62 years in males and 33.4 ± 13.98 years in females. The average score of irritability and hyperactivity was significantly higher in male FXS individuals (5.37 ± 6.231 and 10.28 ± 8.524) than in female individuals (3.24 ± 7.093 and 3.76 ± 3.327) with <i>p</i> = 0.046 and <i>p</i> = 0.001, respectively. Overall irritability in FXS individuals significantly decreased over time (<i>ß</i> = -0.141; <i>p</i> = 0.032). A modest worsening in lethargy/social withdrawal in males across age and a gentle improvement in hyperactivity/noncompliance in male of FXS individuals were observed. FXS males had higher hyperactivity problems than FXS female individuals across age.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709619/pdf/irdr-11-215.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40569982","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
Updated information regarding management of hepatic epithelioid hemangioendothelioma. 关于肝上皮样血管内皮瘤治疗的最新信息。
IF 1.3
Intractable & rare diseases research Pub Date : 2022-11-01 DOI: 10.5582/irdr.2022.01113
Kaijian Chu, Zhizheng Li, Wei Tang, Xiaoqing Jiang
{"title":"Updated information regarding management of hepatic epithelioid hemangioendothelioma.","authors":"Kaijian Chu,&nbsp;Zhizheng Li,&nbsp;Wei Tang,&nbsp;Xiaoqing Jiang","doi":"10.5582/irdr.2022.01113","DOIUrl":"https://doi.org/10.5582/irdr.2022.01113","url":null,"abstract":"<p><p>Hepatic epithelioid hemangioendothelioma (HEHE) is a rare hepatic vascular tumor with a borderline biological behavior between hemangioma and hemangiosarcoma. It tends to be multiple or diffuse subcapsular lesions across the liver but has no characteristic clinical manifestations or imaging findings. On computed tomography and magnetic resonance imaging, these lesions usually have a hypodense appearance with heterogeneous enhancement and a \"halo sign\" or \"lollipop sign\" may be evident in some cases. HEHE is diagnosed mainly based on a pathological examination along with differential immunohistochemical markers such as CAMTA1, CD31, CD34, CD10, vimentin, and factor VIII antigen. Currently, there are no standardized treatment guidelines for HEHE, and surgery (curative resection and liver transplantation) remains the mainstay of treatment. Studies have indicated that extra-hepatic metastasis might not be a contraindication for resection or transplantation. Systemic chemotherapeutic agents including doxorubicin, vincristine, interferon-a, 5-fluorouracil, and thalidomide, as well as VEGF-related agents are being investigated, but no agents have been approved for the treatment of HEHE.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709622/pdf/irdr-11-211.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10276235","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
Do patients with Hirayama disease require surgical treatment? A review of the literature. 平山病患者需要手术治疗吗?文献综述。
IF 1.3
Intractable & rare diseases research Pub Date : 2022-11-01 DOI: 10.5582/irdr.2022.01105
Yuan Gao, Chi Sun, Xiaosheng Ma, Feizhou Lu, Jianyuan Jiang, Hongli Wang
{"title":"Do patients with Hirayama disease require surgical treatment? A review of the literature.","authors":"Yuan Gao,&nbsp;Chi Sun,&nbsp;Xiaosheng Ma,&nbsp;Feizhou Lu,&nbsp;Jianyuan Jiang,&nbsp;Hongli Wang","doi":"10.5582/irdr.2022.01105","DOIUrl":"https://doi.org/10.5582/irdr.2022.01105","url":null,"abstract":"<p><p>The main clinic characteristic of Hirayama disease (HD) is atrophy of the distal muscles in the upper limbs. Recently, an increasing number of HD cases have been reported. Many HD patients have persistently progressive symptoms and conservative treatments failed. This article aims to review the current status of the field and summarizes the main surgical treatment options for patients with HD. A comprehensive search of the PubMed and the Web of Science databases was conducted from their inception to September 15th, 2022. Search terms included \"juvenile muscular atrophy of upper extremity\", \"Hirayama disease\" and \"surgery\". A total of 169 relevant publications were identified and 29 articles were finally reviewed. Current surgical treatments for HD are either anterior cervical surgery or posterior cervical surgery. The two approaches can effectively stop the disease. However, no studies have compared the advantages and limitations of the two surgical methods. The previous view that HD can be improved with conservative treatment has been challenged. In many studies, surgical treatment has been shown to improve the hand function in patients with HD. However, there is still controversy about the methods of anterior and posterior cervical surgery. Future research could focus on exploring the advantages and limitations of different surgeries.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709617/pdf/irdr-11-173.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40458325","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
Insights from a patient with chronic lymphocytic leukemia complicating ALK+ anaplastic large cell lymphoma. 慢性淋巴细胞白血病合并ALK+间变性大细胞淋巴瘤1例分析
IF 1.3
Intractable & rare diseases research Pub Date : 2022-11-01 DOI: 10.5582/irdr.2022.01086
Wuqiang Lin, Xiuli Chen, Zhenjie Cai, Heyong Zheng, Hanxing Huang, Huanxing Yang, Jianda Hu, Jing Zheng, Tetsuya Asakawa
{"title":"Insights from a patient with chronic lymphocytic leukemia complicating ALK<sup>+</sup> anaplastic large cell lymphoma.","authors":"Wuqiang Lin,&nbsp;Xiuli Chen,&nbsp;Zhenjie Cai,&nbsp;Heyong Zheng,&nbsp;Hanxing Huang,&nbsp;Huanxing Yang,&nbsp;Jianda Hu,&nbsp;Jing Zheng,&nbsp;Tetsuya Asakawa","doi":"10.5582/irdr.2022.01086","DOIUrl":"https://doi.org/10.5582/irdr.2022.01086","url":null,"abstract":"<p><p>Chronic lymphocytic leukemia (CLL) that transforms into a more aggressive lymphoma has been termed Richter syndrome (RS). CLL with T-cell neoplasia is rarely reported; those with ALK<sup>+</sup> anaplastic large cell lymphoma (ALCL) are also exceedingly rarely reported. A 63-year-old woman from the south of China presented with generalized lymphadenectasis and fever; she already had a prior diagnosis of CLL 9 years ago. As per her current diagnosis, it was CLL with ALK<sup>+</sup> ALCL. The two-lymph node and bone marrow biopsies presented two types of cellular groups: <i>i</i>) left cervical lymph node biopsy suggested CLL (Ki67: 10%), along with bone marrow biopsy exhibited enhancement of the small lymphocytes (30%) with scant cytoplasm, round or irregular cell nuclei, and massive amounts of chromatin. Large cells (< 1%) that expressed CD30 and ALK were visible; The results of immunohistochemistry were as follows: CD20 (weak positive); PAX5 (positive); CD23 and CD5 (weak positive); and CD3, CD10, and CyclinD1 (negative); <i>ii</i>) left supraclavicular lymph node biopsy suggested ALK<sup>+</sup> ALCL (Ki67: 70%). The final diagnosis was CLL with ALCL. The mechanisms of this condition are not fully understood, which might be associated with chronic stimulation of T cells by CLL cells along with immune dysfunction.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709618/pdf/irdr-11-196.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40457889","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
Knowledge level of medical students and physicians about rare diseases in Lima, Peru. 秘鲁利马地区医学生和医生罕见病知识水平调查
IF 1.3
Intractable & rare diseases research Pub Date : 2022-11-01 DOI: 10.5582/irdr.2022.01079
Andrea Flores, Sarah Burgos, Hugo Abarca-Barriga
{"title":"Knowledge level of medical students and physicians about rare diseases in Lima, Peru.","authors":"Andrea Flores,&nbsp;Sarah Burgos,&nbsp;Hugo Abarca-Barriga","doi":"10.5582/irdr.2022.01079","DOIUrl":"https://doi.org/10.5582/irdr.2022.01079","url":null,"abstract":"<p><p>Rare diseases (RDs) affect up to 8% of the world's population, and unfortunately, health professionals have a low level of knowledge regarding the impacts of RDs on the social, psychological, and economic spheres of the patients and their families; hence, RD management is inadequate, consistently empirical, and precarious. The objective of this study was to determine the knowledge level of the medical students from a non-state university and physicians from Lima, Peru of RDs through a virtual survey for an analytical cross-sectional study. A total of 338 medical students and 382 physicians were surveyed. Results showed that several of the respondents (68.1% of students and 48.7% of physicians) had heard of the term \"rare disease\", but only a few stated that they had received any kind of training specific to it. Of the physicians, 46.6% considered that there should be a course about RDs in medical curricula, and more than 60% considered RDs a public health problem. Most respondents prioritized the planning of a higher budget for common diseases and believe it is convenient to allocate a specific fund for RDs. More than half of the participants had a very poor knowledge level. Due to students and physicians' low level of general knowledge of RDs, it is important to raise awareness and improve their education about these pathologies because this will have beneficial effects for RD patient care.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709623/pdf/irdr-11-180.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40546597","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: 5
Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review. 6q近端间质缺失:12例原始病例和文献回顾。
IF 1.3
Intractable & rare diseases research Pub Date : 2022-08-01 DOI: 10.5582/irdr.2022.01065
Osamu Machida, Keiko Yamamoto Shimojima, Takashi Shiihara, Satoshi Akamine, Ryutaro Kira, Yuiko Hasegawa, Eriko Nishi, Nobuhiko Okamoto, Satoru Nagata, Toshiyuki Yamamoto
{"title":"Interstitial deletions in the proximal regions of 6q: 12 original cases and a literature review.","authors":"Osamu Machida,&nbsp;Keiko Yamamoto Shimojima,&nbsp;Takashi Shiihara,&nbsp;Satoshi Akamine,&nbsp;Ryutaro Kira,&nbsp;Yuiko Hasegawa,&nbsp;Eriko Nishi,&nbsp;Nobuhiko Okamoto,&nbsp;Satoru Nagata,&nbsp;Toshiyuki Yamamoto","doi":"10.5582/irdr.2022.01065","DOIUrl":"https://doi.org/10.5582/irdr.2022.01065","url":null,"abstract":"<p><p>Interstitial microdeletions in the proximal region of the long arm of chromosome 6 are rare. Herein we have reported 12 patients with developmental delays associated with interstitial microdeletions in 6q ranging from q12 to q22. The microdeletions were detected by chromosomal microarray testing. To confirm the clinical significance of these deletions, genotype-phenotype correlation analysis was performed using genetic and predicted loss-of-function data. <i>SIM1</i> was recognized as the gene responsible for developmental delay, particularly in Prader-Willi syndrome-like phenotypes. Other genes possibly related to developmental delay were <i>ZNF292</i>, <i>PHIP</i>, <i>KCNQ5</i>, and <i>NUS1</i>. To further establish the correlation between the genotype and phenotype, more patient information is required.</p>","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9438003/pdf/irdr-11-143.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33507039","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
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