Intractable & rare diseases research最新文献_第6页

End-stage renal disease due to retroperitoneal fibrosis in neurofibromatosis type I. I型神经纤维瘤病腹膜后纤维化引起的终末期肾脏疾病。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-05-01 DOI: 10.5582/irdr.2023.01018

Luis Guilherme Ramanzini, Luís Fernando Muniz Camargo, Thaís Lorrany Oliveira Caixeta, Rafael Cardoso Louzada, Julia Maria Frare

{"title":"End-stage renal disease due to retroperitoneal fibrosis in neurofibromatosis type I.","authors":"Luis Guilherme Ramanzini, Luís Fernando Muniz Camargo, Thaís Lorrany Oliveira Caixeta, Rafael Cardoso Louzada, Julia Maria Frare","doi":"10.5582/irdr.2023.01018","DOIUrl":"https://doi.org/10.5582/irdr.2023.01018","url":null,"abstract":"Retroperitoneal fibrosis (RF) commonly leads to renal impairment due to compression of ureters, and around 8% of patients eventually progress to end-stage renal disease (ESRD). We present a case of RF in a 61-year-old female patient with neurofibromatosis type 1 (NF1) who developed ESRD. She presented with a postrenal acute kidney injury, being initially treated with an ureteral catheter. A magnetic resonance imaging of the abdomen showed parietal thickening of the right ureter, and she underwent right ureter reimplantation through bladder flap and psoas hitch. There was an extensive area of fibrosis and inflammation over the right ureter. Biopsy disclosed nonspecific fibrosis, which was consistent with RF. Although the procedure was successful, she developed ESRD. We review atypical presentations of RF and causes of renal injury in NF1. RF should be considered a possible cause of chronic kidney disease in patients with NF1, perhaps due to an unknown underlying mechanism.","PeriodicalId":14420,"journal":{"name":"Intractable & rare diseases research","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242389/pdf/irdr-12-129.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9603142","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

Telotristat Etiprate alleviates rheumatoid arthritis by targeting LGALS3 and affecting MAPK signaling. Telotristat Etiprate通过靶向LGALS3和影响MAPK信号通路缓解类风湿关节炎。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-02-01 DOI: 10.5582/irdr.2022.01121

Ling Zhang, Yanwen Lin, Xinrui Xu, Huihui Liu, Xiangyu Wang, Jihong Pan

{"title":"Telotristat Etiprate alleviates rheumatoid arthritis by targeting LGALS3 and affecting MAPK signaling.","authors":"Ling Zhang, Yanwen Lin, Xinrui Xu, Huihui Liu, Xiangyu Wang, Jihong Pan","doi":"10.5582/irdr.2022.01121","DOIUrl":"https://doi.org/10.5582/irdr.2022.01121","url":null,"abstract":"Rheumatoid arthritis (RA) is one of the most widespread chronic immune-mediated inflammatory diseases characterized by continuous erosion of bone and cartilage by synovial hyperplasia. Telotristat Etiprate is an inhibitor of tryptophan hydroxylase, a rate-limiting enzyme in the biosynthesis of serotonin. Telotristat Etiprate can be used in the treatment of carcinoid syndrome. The purpose of this study was to explore the effect of Telotristat Etiprate on RA and its mechanism. We investigated Telotristat Etiprate in collagen-induced arthritis (CIA) model mice and in rheumatoid arthritis synovial fibroblasts (RASFs). Results showed that Telotristat Etiprate had anti-inflammatory effects both in vitro and in vivo, can inhibit the invasion and migration of cells, inhibit the formation of pannus, and induce cell apoptosis. Transcriptome sequencing (RNA-seq) and mass spectrometry analysis showed that Galectins-3 (LGALS3) could be a newly identified target of Telotristat Etiprate, affecting the phosphorylation of the MAPK signaling pathway through UBE2L6, thereby improving RA.","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/PMC9976094/pdf/irdr-12-45.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9410780","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":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/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":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/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

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":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/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

Uncommon, overlooked and underreported causes of upper gastrointestinal bleeding. 上消化道出血的不常见、被忽视和少报的原因。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-02-01 DOI: 10.5582/irdr.2022.01128

Sachin Mahendrakumar Chaudhary, Ajay Singh, Manisha Chavan, Arghadip Das, Pinank Kiritkumar Bathvar

{"title":"Uncommon, overlooked and underreported causes of upper gastrointestinal bleeding.","authors":"Sachin Mahendrakumar Chaudhary, Ajay Singh, Manisha Chavan, Arghadip Das, Pinank Kiritkumar Bathvar","doi":"10.5582/irdr.2022.01128","DOIUrl":"https://doi.org/10.5582/irdr.2022.01128","url":null,"abstract":"Upper gastrointestinal bleeding (UGB) is a potentially fatal consequence of digestive disorders. There is a wide range of rare causes for UGB that can lead to misdiagnosis and occasionally catastrophic outcomes. The lifestyles of those who are afflicted are mostly responsible for the underlying conditions that result in the hemorrhagic cases. The development of a novel approach targeted at raising public awareness of the issue and educating the public about it could significantly contribute to the elimination of gastrointestinal bleeding with no associated risks and to a nearly zero mortality rate. There are reports of UGB related to Sarcina ventriculi, gastric amyloidosis, jejunal lipoma, gastric schwannoma, hemobilia, esophageal varices, esophageal necrosis, aortoenteric fistula, homosuccus pancreaticus, and gastric trichbezoar in the literature. The common feature of these rare causes of UGB is that the diagnosis is difficult to establish before surgery. Fortunately, UGB with a clear lesion in the stomach itself is a clear sign for surgical intervention, and the diagnosis can only be verified by pathological examination with the help of immunohistochemical detection of a particular antigen for a specific condition. The clinical traits, diagnostic techniques, and the therapeutic, or surgical options of unusual causes of UGB reported in the literature are compiled in this review.","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/PMC9976090/pdf/irdr-12-13.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9410786","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

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":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/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

Hyperphagia in Prader-Willi syndrome with obesity: From development to pharmacological treatment. Prader-Willi综合征合并肥胖的贪食症:从发展到药物治疗。

IF 1.3

Intractable & rare diseases research Pub Date : 2023-02-01 DOI: 10.5582/irdr.2022.01127

Qaddra Fahada Ab Rahman, Nurul Farhana Jufri, Asmah Hamid

{"title":"Hyperphagia in Prader-Willi syndrome with obesity: From development to pharmacological treatment.","authors":"Qaddra Fahada Ab Rahman, Nurul Farhana Jufri, Asmah Hamid","doi":"10.5582/irdr.2022.01127","DOIUrl":"https://doi.org/10.5582/irdr.2022.01127","url":null,"abstract":"Prader-Willi syndrome (PWS) is a rare genetic disorder due to lack of genes expression inherited from the paternal chromosome 15q11-q13 region usually from paternal deletions, maternal uniparental disomy 15 or imprinting defect. There are two different nutritional stages reported in an individual with PWS; first stage during infancy marked by feeding and growth difficulties and second stage where hyperphagia starts and leads to development of obesity. However, the exact mechanism of hyperphagia development, from having difficulties in feeding during early years to insatiable appetite after they grow is still unknown and is the focused in this review. The keywords used for literature search such as \"Prader-Willi syndrome\", \"hyperphagia\", \"obesity\", and \"treatment\" were used to create the search strings by using synonyms in order to retrieve the relevant records from PubMed, Scopus and Science Direct. The possible mechanism of hyperphagia can be classed into hormonal abnormalities such as increase in ghrelin and leptin from infancy to adulthood. Low level of hormones was observed in the thyroid, insulin and peptide YY at certain ages. Neuronal abnormalities contributed by Orexin A and brain structure alteration was documented at 4-30 years old. Treatment in the form of drugs such as livoletide, topiramate, and diazoxide could potentially alleviate these abnormalities and make hyperphagia less prominent in PWS. The approaches are important to regulate the hormonal changes and neuronal involvement as potentially controlling hyperphagia and obesity.","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/PMC9976092/pdf/irdr-12-5.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9394306","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

A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China. 在山东省筛选甲基丙二酸血症伴同型半胱氨酸尿的MMACHC携带者的区域适应性hrm技术

IF 1.3

Intractable & rare diseases research Pub Date : 2023-02-01 DOI: 10.5582/irdr.2023.01016

Haining Yang, Mian Li, Liang Zou, Hui Zou, Yan Zhao, Yazhou Cui, Jinxiang Han

{"title":"A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China.","authors":"Haining Yang, Mian Li, Liang Zou, Hui Zou, Yan Zhao, Yazhou Cui, Jinxiang Han","doi":"10.5582/irdr.2023.01016","DOIUrl":"https://doi.org/10.5582/irdr.2023.01016","url":null,"abstract":"Methylmalonic acidemia with homocystinuria (MMA-cblC) is an autosomal recessive genetic disorder of organic acid metabolism. Shandong, a northern province of China, has a significantly high incidence of about 1/4,000, suggesting a high carrying rate among the local population. The current study established a PCR technique involving high-resolution melting (HRM) to screen for carriers based on hotspot mutation analysis to further develop a preventive strategy to reduce the local incidence of this rare disease. Whole-exome sequencing of 22 families with MMA-cblC and a comprehensive literature review were used to identify MMACHC hotspot mutations in Shandong Province. Subsequently, a PCR-HRM assay based on the selected mutations was established and optimized for large-scale hotspot mutation screening. The accuracy and efficiency of the screening technique was validated using samples from 69 individuals with MMA-cblC and 1,000 healthy volunteers. Six hotspot mutations in the MMACHC gene (c.609G>A, c.658_660delAAG, c.80A>G, c.217C>T, c.567dupT and c.482G>A), which account for 74% of the alleles associated with MMA-cblC, were used to establish a screening technique. The established PCR-HRM assay detected 88 MMACHC mutation alleles in a validation study with 100% accuracy. In the general population in Shandong, the carrying rate of 6 MMACHC hotspot mutations was 3.4%. In conclusion, the 6 hotspots identified cover the majority of the MMACHC mutation spectrum, and the Shandong population has a particularly high carrying rate of MMACHC mutations. The PCR-HRM assay is highly accurate, cost-effective, and easy to use, making it an ideal choice for mass carrier screening.","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/PMC9976096/pdf/irdr-12-29.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9410782","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