European journal of medical genetics最新文献

{"title":"Response to the comment on Diderich et al. “The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis” (EJMG 66(10),104844)","authors":"Karin E.M. Diderich, Jasmijn E. Klapwijk, Vyne van der Schoot, Myrthe van den Born, Martina Wilke, Marieke Joosten, Kyra E. Stuurman, Lies H. Hoefsloot, Diane Van Opstal, Hennie T. Brüggenwirth, Malgorzata I. Srebniak","doi":"10.1016/j.ejmg.2023.104884","DOIUrl":"https://doi.org/10.1016/j.ejmg.2023.104884","url":null,"abstract":"","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"67 ","pages":"Article 104884"},"PeriodicalIF":1.9,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721223001908/pdfft?md5=125a1163205c3026ea6b7faaa4f1b8ee&pid=1-s2.0-S1769721223001908-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134688795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"National clinical Genetic Networks - GENets - Establishment of expert collaborations in Denmark","authors":"Dorte L. Lildballe ,&nbsp;Anja Lisbeth Frederiksen ,&nbsp;Bitten Schönewolf-Greulich ,&nbsp;Charlotte Brasch-Andersen ,&nbsp;Charlotte Kvist Lautrup ,&nbsp;Helena Gásdal Karstensen ,&nbsp;Inge Søkilde Pedersen ,&nbsp;Lone Sunde ,&nbsp;Lotte Risom ,&nbsp;Maria Rasmussen ,&nbsp;Mette Bertelsen ,&nbsp;Mette Klarskov Andersen ,&nbsp;Nanna Dahl Rendtorff ,&nbsp;Pernille Axél Gregersen ,&nbsp;Pernille M. Tørring ,&nbsp;Sophia Hammer-Hansen ,&nbsp;Susanne E. Boonen ,&nbsp;Suzanne Granhøj Lindquist ,&nbsp;Trine Bjørg Hammer ,&nbsp;Birgitte R. Diness","doi":"10.1016/j.ejmg.2023.104872","DOIUrl":"10.1016/j.ejmg.2023.104872","url":null,"abstract":"<div><p><span>Genetic<span> conditions are often familial, but not all relatives receive counseling from the same institution. It is therefore necessary to ensure consistency in variant interpretation, counseling practices, and clinical follow up across health care providers. Furthermore, as new possibilities for gene-specific treatments emerge and </span></span>whole genome sequencing becomes more widely available, efficient data handling and knowledge sharing between clinical laboratory geneticists and medical specialists in clinical genetics are increasingly important.</p><p>In Denmark, these needs have been addressed through the establishment of collaborative national networks called Genetic Expert Networks or \"GENets\". These networks have enhanced patient and family care significantly by bringing together groups of experts in national collaborations. This promotes coordinated clinical care, the dissemination of best clinical practices, and facilitates the exchange of new knowledge.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"66 12","pages":"Article 104872"},"PeriodicalIF":1.9,"publicationDate":"2023-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134648721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Letter to the Editor: Comment to Diderich et al. “The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis” (EJMG 66(10),104844)","authors":"Fang Chen,&nbsp;Dong-Zhi Li","doi":"10.1016/j.ejmg.2023.104883","DOIUrl":"10.1016/j.ejmg.2023.104883","url":null,"abstract":"","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"67 ","pages":"Article 104883"},"PeriodicalIF":1.9,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721223001891/pdfft?md5=12bd5078f3e5011e6b4e685549cdac9a&pid=1-s2.0-S1769721223001891-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72013961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat–Wilson syndrome","authors":"Yasuyo Suzuki ,&nbsp;Noriko Nomura ,&nbsp;Kenichiro Yamada ,&nbsp;Yasukazu Yamada ,&nbsp;Ayumi Fukuda ,&nbsp;Kyoko Hoshino ,&nbsp;Shinpei Abe ,&nbsp;Kenji Kurosawa ,&nbsp;Mie Inaba ,&nbsp;Seiji Mizuno ,&nbsp;Nobuaki Wakamatsu ,&nbsp;Shin Hayashi","doi":"10.1016/j.ejmg.2023.104882","DOIUrl":"10.1016/j.ejmg.2023.104882","url":null,"abstract":"<div><p>High-throughput sequencing has identified vast numbers of variants in genetic disorders. However, the significance of variants at the exon-intron junction remains controversial. Even though most cases of Mowat–Wilson syndrome (MOWS) are caused by heterozygous loss-of-function variants in <span><em>ZEB2</em></span>, the pathogenicity of variants at exon-intron junction is often indeterminable. We identified four intronic variants in 5/173 patients with clinical suspicion for MOWS, and evaluated their pathogenicity by <em>in vitro</em><span><span><span><span> analyses. The minigene analysis showed that c.73+2T&gt;G caused most of the transcripts </span>skipping exon 2, while c.916+6T&gt;G led to partial skipping of exon 7. No splicing abnormalities were detected in both c.917-21T&gt;C and c.3067+6A&gt;T. The minigene analysis reproduced the splicing observed in the blood cells of the patient with c.73+2T&gt;G. The degree of the exon skipping was concordant with the severity of MOWS; while the patient with c.73+2T&gt;G was typical MOWS, the patient with c.916+6T&gt;G showed milder phenotype which has been seldom reported. Our results demonstrate that </span>mRNA splicing assays using the minigenes are valuable for determining the </span>clinical significance<span> of intronic variants in patients with not only MOWS but also other genetic diseases with splicing aberrations and may explain atypical or milder cases, such as the current patient.</span></span></p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"66 12","pages":"Article 104882"},"PeriodicalIF":1.9,"publicationDate":"2023-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72013962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serum alkaline phosphatase can be elevated in patients with hypophosphatasia due to liver disease","authors":"Evert F.S. van Velsen ,&nbsp;Zografia Zervou ,&nbsp;M. Carola Zillikens","doi":"10.1016/j.ejmg.2023.104866","DOIUrl":"10.1016/j.ejmg.2023.104866","url":null,"abstract":"<div><h3>Background</h3><p>Hypophosphatasia (HPP) is a rare inherited disorder caused by pathogenic loss-of-function variants in the <em>ALPL</em> gene, encoding the tissue-nonspecific isoenzym of alkaline phosphatase (ALP; TNSALP). Low serum ALP is the biochemical hallmark of HPP, but it is unknown whether ALP levels can increase due to concurring liver disease, which may lead to a missed diagnose of HPP. We present a patient with genetically confirmed HPP, who showed a transient increase of serum ALP levels due to alcohol-induced hepatitis.</p></div><div><h3>Clinical report</h3><p>A 71-year old man was seen at our Bone Center for surveillance of HPP. Serum ALP was always low (23 U/L; reference value: &lt;115 U/L). During follow-up, his serum ALP increased (156 U/L, further rising to 204 U/L), with concomitantly elevated serum gamma-glutamyl transferase and transaminases, and a rise in bone specific ALP (18.7 μg/L; reference value: 5.7–32.9 μg/L). This was attributed to alcohol-induced hepatitis. After refraining from alcohol intake, both serum ALP and bone specific ALP levels returned to initial low levels (30 U/L and 4.3 μg/L respectively).</p></div><div><h3>Conclusions</h3><p>We demonstrated the history of a 71-year old patient with HPP, presenting during routine follow-up with an elevated serum ALP level up to 204 U/L due to alcohol-induced hepatitis. This case illustrates that the diagnosis of HPP can potentially be missed when ALP levels are normal or elevated due to a concomitant liver disease.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"66 11","pages":"Article 104866"},"PeriodicalIF":1.9,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721223001726/pdfft?md5=5748b05eaf84bf785fb3f9c5e38be949&pid=1-s2.0-S1769721223001726-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41233454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases","authors":"Ana Luisa Priego Zurita ,&nbsp;Corinna Grasemann ,&nbsp;Manila Boarini ,&nbsp;Roland Chapurlat ,&nbsp;Marina Mordenti ,&nbsp;ERN BOND Working Group 5 ,&nbsp;Muhammad Kassim Javaid ,&nbsp;Natasha M. Appelman-Dijkstra","doi":"10.1016/j.ejmg.2023.104868","DOIUrl":"https://doi.org/10.1016/j.ejmg.2023.104868","url":null,"abstract":"<div><h3>Background</h3><p>knowledge on the natural history of rare diseases is necessary to improve outcomes. Disease registries may play a key role in covering these unmet needs in the rare bone and mineral community.</p></div><div><h3>Objective</h3><p>to map existing bone and mineral conditions registries in Europe and their characteristics.</p></div><div><h3>Methods</h3><p>online survey about the use of registries/databases and their characteristics. This survey was disseminated among members of the European Reference Network on Rare Bone Diseases (ERN BOND) and non-ERN experts in the field of bone and mineral conditions as well as patient organisations.</p></div><div><h3>Results</h3><p>sixty-three responses from health care providers (HCPs) and 10 responses from patient groups (PGs) were collected. The response rate for ERN BOND members was 55%. Of 63 HCPs, 37 declared using a registry. Osteogenesis imperfecta (OI) was the most registered condition. We mapped 3 international registries, all were disease-specific.</p></div><div><h3>Conclusions</h3><p>There is a need for developing a common high-quality platform for registering rare bone and mineral conditions.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"66 12","pages":"Article 104868"},"PeriodicalIF":1.9,"publicationDate":"2023-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S176972122300174X/pdfft?md5=b419f9d5f02b5b39de01c40e247713d4&pid=1-s2.0-S176972122300174X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92123774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression","authors":"Kristian L. Juul-Dam ,&nbsp;Neerav N. Shukla ,&nbsp;Todd M. Cooper ,&nbsp;Branko Cuglievan ,&nbsp;Olaf Heidenreich ,&nbsp;E Anders Kolb ,&nbsp;Milad Rasouli ,&nbsp;Henrik Hasle ,&nbsp;C Michel Zwaan","doi":"10.1016/j.ejmg.2023.104869","DOIUrl":"https://doi.org/10.1016/j.ejmg.2023.104869","url":null,"abstract":"<div><p>Despite advances in the clinical management of childhood acute myeloid leukemia (AML) during the last decades, outcome remains fatal in approximately one third of patients. Primary chemoresistance, relapse and acute and long-term toxicities to conventional myelosuppressive therapies still constitute significant challenges and emphasize the unmet need for effective targeted therapies. Years of scientific efforts have translated into extensive insights on the heterogeneous spectrum of genetics and oncogenic signaling pathways of AML and identified a subset of patients characterized by upregulation of <em>HOXA</em> and <em>HOXB</em> homeobox genes and <em>myeloid ecotropic virus insertion site 1</em> (<em>MEIS1</em>). Aberrant <em>HOXA</em>/<em>MEIS1</em> expression is associated with genotypes such as rearrangements in <em>Histone-lysine N-methyltransferase 2A</em> (<em>KMT2A</em>-r<em>)</em>, <em>nucleoporin 98</em> (<em>NUP98</em>-r) and mutated <em>nucleophosmin</em> (NPM1c) that are found in approximately one third of children with AML. AML with upregulated <em>HOXA</em>/<em>MEIS1</em> shares a number of molecular vulnerabilities amenable to recently developed molecules targeting the assembly of protein complexes or transcriptional regulators. The interaction between the nuclear scaffold protein menin and KMT2A has gained particular interest and constitutes a molecular dependency for maintenance of the <em>HOXA</em>/<em>MEIS1</em> transcription program. Menin inhibitors disrupt the menin-KMT2A complex in preclinical models of <em>KMT2A</em>-r, <em>NUP98</em>-r and NPM1c acute leukemias and its occupancy at target genes leading to leukemic cell differentiation and apoptosis. Early-phase clinical trials are either ongoing or in development and preliminary data suggests tolerable toxicities and encouraging efficacy of menin inhibitors in adults with relapsed or refractory <em>KMT2A</em>-r and NPM1c AML. The Pediatric Acute Leukemia/European Pediatric Acute Leukemia (PedAL/EUPAL) project is focused to advance and coordinate informative clinical trials with new agents and constitute an ideal framework for testing of menin inhibitors in pediatric study populations. Menin inhibitors in combination with standard chemotherapy or other targeting agents may enhance anti-leukemic effects and constitute rational treatment strategies for select genotypes of childhood AML, and provide enhanced safety to avoid differentiation syndrome. In this review, we discuss the pathophysiological mechanisms in <em>KMT2A</em>-r, <em>NUP98</em>-r and NPM1c AML, emerging molecules targeting the <em>HOXA/MEIS1</em> transcription program with menin inhibitors as the most prominent examples and future therapeutic implications of these agents in childhood AML.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"66 12","pages":"Article 104869"},"PeriodicalIF":1.9,"publicationDate":"2023-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721223001751/pdfft?md5=b76259927fd529ffab1f4936d78df105&pid=1-s2.0-S1769721223001751-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92134155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Application of long read sequencing in rare diseases: The longer, the better?","authors":"Si-Yan Yu ,&nbsp;Yu-Lin Xi ,&nbsp;Fu-Qiang Xu ,&nbsp;Jian Zhang ,&nbsp;Yan-Shan Liu","doi":"10.1016/j.ejmg.2023.104871","DOIUrl":"https://doi.org/10.1016/j.ejmg.2023.104871","url":null,"abstract":"<div><p>Rare diseases encompass a diverse group of genetic disorders that affect a small proportion of the population. Identifying the underlying genetic causes of these conditions presents significant challenges due to their genetic heterogeneity and complexity. Conventional short-read sequencing (SRS) techniques have been widely used in diagnosing and investigating of rare diseases, with limitations due to the nature of short-read lengths. In recent years, long read sequencing (LRS) technologies have emerged as a valuable tool in overcoming these limitations. This minireview provides a concise overview of the applications of LRS in rare disease research and diagnosis, including the identification of disease-causing tandem repeat expansions, structural variations, and comprehensive analysis of pathogenic variants with LRS.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"66 12","pages":"Article 104871"},"PeriodicalIF":1.9,"publicationDate":"2023-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92036730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel TRPS1 frameshift variant in tricho-rhino-phalangeal syndrome type I accompanied by zinc deficiency","authors":"Hideaki Yagasaki ,&nbsp;Hiromune Narusawa ,&nbsp;Daisuke Watanabe ,&nbsp;Koji Kobayashi ,&nbsp;Hiroshi Mitsui ,&nbsp;Yoshihiro Asano ,&nbsp;Miho Nagata ,&nbsp;Ayumi Yonei ,&nbsp;Takeshi Inukai","doi":"10.1016/j.ejmg.2023.104870","DOIUrl":"10.1016/j.ejmg.2023.104870","url":null,"abstract":"<div><p>Tricho-rhino-phalangeal syndrome type I (TRPS1), caused by pathogenic variants in the transcriptional repressor GATA-binding 1 gene (<em>TRPS1</em>), is characterized by ectodermal and skeletal anomalies including short stature and sparse scalp hair during infancy. <em>TRPS1</em> encodes a zinc finger protein transcription factor that contributes to bone homeostasis by regulating perichondral mineralization, chondrocyte proliferation, and apoptosis. Here, a male infant aged 14 months presented with sparse scalp hair, deformed nails, fused teeth, and postnatal growth retardation without neurodevelopmental disorder. As endocrinological measurements revealed low serum zinc levels, he was treated with zinc acetate hydrate, which improved his growth velocity and scalp hair. Whole-exome sequencing revealed that this patient harbored a novel pathogenic <em>de novo</em> heterozygous <em>TRPS1</em> frameshift variant, c.2819_2822del, p.(His940Argfs*6). Zinc deficiency induces zinc finger protein dysfunction via effects on protein folding and assembly, affecting target gene transcription and apoptosis. The symptoms of TRPS1 are similar to those caused by inadequate levels of zinc, an essential trace element with important roles in tissue growth and repair. Accompanying zinc deficiency may have affected the function of important zinc finger proteins, resulting in phenotypic deterioration. Analysis of zinc metabolism in patients harboring <em>TRPS1</em> variants will enhance understanding the variety of phenotypes of TRPS1.</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"66 12","pages":"Article 104870"},"PeriodicalIF":1.9,"publicationDate":"2023-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50161177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion","authors":"Marion Lesieur-Sebellin,&nbsp;Pauline Marzin,&nbsp;Jean-Baptiste Arnoux,&nbsp;Marie-Laure Maurin,&nbsp;Aline Receveur,&nbsp;Vincent Cantagrel,&nbsp;Sylvia Rose,&nbsp;Guillaume Dorval,&nbsp;Jonathan Levy,&nbsp;Valérie Malan","doi":"10.1016/j.ejmg.2023.104848","DOIUrl":"10.1016/j.ejmg.2023.104848","url":null,"abstract":"<div><p><span><span>The association of both uniparental disomy and small supernumerary </span>marker chromosomes is rare. Clinical impact depends on the presence of imprinted genes and/or the unmasking of a recessive mutation of the chromosome involved in the uniparental disomy and the euchromatic content of the sSMC. Here, we report on the second case of a patient harbouring a </span><em>de novo</em><span> supernumerary marker chromosome 6<span><span><span><span> causing partial trisomy 6p12.3p11.1 associated with a paternal uniparental isodisomy of chromosome 6. Our patient presented with </span>intrauterine growth retardation, </span>macroglossia<span>, initial developmental delay and transient neonatal diabetes mellitus<span> followed by a congenital hyperinsulinism. Diabetes and intrauterine growth retardation can be linked to the paternal isodisomy of the imprinted locus on chromosome 6q24 whereas developmental delay is probably due to the small supernumerary marker chromosome. However, the clinical impact of partial trisomy 6p is difficult to address due to a limited number of patients. The careful clinical examination and the molecular characterization of additional patients with trisomy 6p are needed to further predict the phenotype for </span></span></span>genetic counselling<span>. Finally, uniparental disomy should be considered when a sSMC involving a chromosome containing imprinted regions is detected, especially in the prenatal setting.</span></span></span></p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"66 10","pages":"Article 104848"},"PeriodicalIF":1.9,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41102481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}