Molecular Syndromology最新文献

{"title":"Sequence Variants in <i>MEGF8</i> and <i>GJA1</i> Underlying Syndactyly.","authors":"Muhammad Bilal, Tobias B Haack, Rebecca Buchert, Susana Peralta, Najum Uddin, Raja Hussain Ali, Khurram Liaqat, Wasim Ahmad","doi":"10.1159/000528651","DOIUrl":"10.1159/000528651","url":null,"abstract":"<p><strong>Introduction: </strong>Syndactyly is a common congenital limb malformation. It occurs due to embryological failure of digit separation during limb development. Syndactyly often runs in families with an incidence of about one out of every 2,500-3,000 live births.</p><p><strong>Methods: </strong>Here, we have reported two families presenting features of severe forms of syndactyly. The disorder segregated in autosomal recessive in one and in autosomal dominant manner in the second family. Search for the causative variants was carried out using whole-exome sequencing in family A and candidate gene sequencing in family B.</p><p><strong>Results: </strong>Analysis of the sequencing data revealed two novel missense variants, including p.(Cys1925Arg) in <i>MEGF8</i> in family A and p.(Thr89Ile) in <i>GJA1</i> in family B.</p><p><strong>Conclusion: </strong>In conclusion, the novel findings, presented here, not only expand the mutation spectrum in the genes <i>MEGF8</i> and <i>GJA1</i>, but this will also facilitate screening other families carrying similar clinical features in the Pakistani population.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"14 3","pages":"201-207"},"PeriodicalIF":1.1,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10267519/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9658981","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":"Front & Back Matter","authors":"","doi":"10.1159/000531339","DOIUrl":"https://doi.org/10.1159/000531339","url":null,"abstract":"","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2023-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47856983","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":"Expanding Phenotype of &lt;i&gt;SYT1&lt;/i&gt;-Related Neurodevelopmental Disorder: Case Report and Literature Review","authors":"Carlo Alberto Cesaroni, Carlotta Spagnoli, Margherita Baga, Susanna Rizzi, Daniele Frattini, Stefano Giuseppe Caraffi, Marzia Pollazzon, Livia Garavelli, Carlo Fusco","doi":"10.1159/000530586","DOIUrl":"https://doi.org/10.1159/000530586","url":null,"abstract":"<b><i>Introduction:</i></b> Synaptotagmin 1 (SYT1), the predominant SYT isoform in the central nervous system, likely acts by promoting vesicle docking, deforming the plasma membrane via Ca²⁺-dependent membrane penetration. <b><i>Case Presentation:</i></b> Here, we describe a 21-year-old woman harboring a novel variant in the <i>SYT1</i> gene, who presents with a complex phenotype, featuring severe intellectual disability, absent speech, behavioral abnormalities, motor stereotypies, dystonic posturing of her hands, a hyperkinetic movement disorder in her childhood, infantile hypotonia, sialorrhea, mild dysmorphic features, epilepsy, peculiar EEG findings, and severe scoliosis. <b><i>Discussion:</i></b> Based on our case and literature review on the 22 previously described patients, we can confirm a complex neurodevelopmental disorder in which, unlike other synaptopathies, epilepsy is present in a subset of cases (including our patient: 5/23, 22%), although characteristic EEG changes are far more common (10/23, 43.5%). Our patient’s age allows us to provide long-term follow-up data and thus better delineate the <i>SYT1</i>-related clinical phenotype.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"104 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135421699","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":"Homozygous Val6Gly Variation in <i>PRDM5</i> Gene Causing Brittle Cornea Syndrome: A New Turkish Case.","authors":"Aslıhan Sanrı,&nbsp;Selma Demir,&nbsp;Hakan Gurkan","doi":"10.1159/000524832","DOIUrl":"10.1159/000524832","url":null,"abstract":"<p><strong>Introduction: </strong>Brittle cornea syndrome (BCS) is a rare connective tissue disorder with ocular and systemic features. Extreme corneal thinning and fragility are the main hallmarks of BCS.</p><p><strong>Case report: </strong>A 4-year-old boy presented with recurrent spontaneous corneal perforation. He had blue sclera, corneal leucoma, irregular iris, shallow anterior chamber, corneal astigmatism, and bilateral corneal thinning. He also had several systemic features including hearing loss, skin hyperelasticity, joint hypermobility, scoliosis, and umbilical hernia. A diagnosis of BCS was confirmed with molecular analysis. A homozygous c.17T>G, p.(Val6Gly) variation was identified in the <i>PRDM5</i> gene.</p><p><strong>Discussion: </strong>p.(Val6Gly) variation in <i>PRDM5</i> was previously reported in 2 patients with BCS. We also considered <i>PRDM5</i> c.17T>G, p.(Val6Gly) variation as pathogenic based on the following features: the absence of the variation in population databases, in silico predictions, segregation analysis, and clinical signs of our patient. Extremely thin and brittle corneas lead to corneal perforation spontaneously or after minor trauma. Nearly all patients have lost their vision because of corneal rupture and scars. The key challenge in the management of BCS is the prevention of ocular rupture which relies on early diagnosis. Early diagnosis allows for taking prompt measures to prevent ocular rupture.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"14 2","pages":"129-135"},"PeriodicalIF":1.1,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091010/pdf/msy-0014-0129.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9316754","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":"Case Report of Two Siblings Diagnosed with Osteogenesis Imperfecta Type XV with a New Mutation in the <i>WNT1</i> Gene and Review of the Literature.","authors":"Büşra Eser Çavdartepe,&nbsp;Rojan İpek","doi":"10.1159/000528201","DOIUrl":"10.1159/000528201","url":null,"abstract":"<p><strong>Introduction: </strong>Osteogenesis imperfecta (OI) is a heritable disorder characterized by bone fractures and low bone mass. Recently, mutations of the <i>WNT1</i> gene have been reported to be causative in OI. The mutation in <i>WNT1</i> causes autosomal-recessive OI due to its critical role in bone formation. <i>WNT1</i> mutations cause varying degrees of clinical severity, ranging from moderate to progressively deforming forms. In addition to the OI phenotype, our cases also had extra-skeletal findings.</p><p><strong>Case presentation: </strong>We describe two siblings with multiple fractures and developmental delay. A novel homozygous frameshift <i>WNT1</i> mutation was detected in this family, and we reviewed the literature for <i>WNT1</i>-related OI cases.</p><p><strong>Discussion: </strong>We report a novel variant with a clinical diagnosis of severe OI, and this review will provide a comprehensive overview of previously published cases of OI type XV. With a better understanding of disorders associated with <i>WNT1</i> mutations, therapies targeting Wnt1 signaling pathway may contribute therapeutic benefits.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"14 2","pages":"164-170"},"PeriodicalIF":1.1,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091007/pdf/msy-0014-0164.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9316756","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":"First Report of Mexican Patients with <i>PACS1</i>-Related Neurodevelopmental Disorder and Review of the <i>PACS1</i>-, <i>PACS2</i>-, and <i>WDR37</i>-Related Ophthalmological Manifestations.","authors":"Jorge Román Corona-Rivera,&nbsp;Juan Carlos Zenteno,&nbsp;Leopoldo Gildardo López-Pérez,&nbsp;Emiy Yokoyama-Rebollar,&nbsp;Camilo E Villarroel,&nbsp;Tania Barragán-Arévalo,&nbsp;Luis Ángel Montes-Almanza,&nbsp;Luz Consuelo Zepeda-Romero,&nbsp;Guadalupe Elena Morales-Domínguez,&nbsp;Christian Peña-Padilla,&nbsp;Lucina Bobadilla-Morales,&nbsp;Alfredo Corona-Rivera","doi":"10.1159/000526975","DOIUrl":"10.1159/000526975","url":null,"abstract":"<p><strong>Introduction: </strong><i>PACS1</i>-related neurodevelopmental disorder (<i>PACS1-</i>related NDD) is caused by pathogenic variants in the <i>PACS1</i> gene and is characterized by a distinctive facial appearance, intellectual disability, speech delay, seizures, feeding difficulties, cryptorchidism, hernias, and structural anomalies of the brain, heart, eye, and kidney. There is a marked facial resemblance and a common multisystem affectation with patients carrying pathogenic variants in the <i>WDR37</i> and <i>PACS2</i> genes, although they vary in terms of severity and eye involvement.</p><p><strong>Case presentation: </strong>Here, we describe 4 individuals with <i>PACS1</i>-related NDD from Mexico, all of them carrying a de novo <i>PACS1</i> variant c.607C>T; p.(Arg203Trp) identified by exome sequencing. In addition to eye colobomata, this report identified corneal leukoma, cataracts, and tortuosity of retinal vessels as ophthalmic manifestations not previously reported in patients with <i>PACS1</i>-related NDD.</p><p><strong>Discussion: </strong>We reviewed the ocular phenotypes reported in 74 individuals with <i>PACS1</i>-related NDD and the overlaps with <i>WDR37-</i> and <i>PACS2</i>-related syndromes. We found that the 3 syndromes have in common the presence of colobomata, ptosis, nystagmus, strabismus, and refractive errors, whereas microphthalmia, microcornea, and Peters anomaly are found only among individuals with <i>PACS1</i>-related NDD and <i>WDR37</i> syndrome, being more severe in the latter. This supports the previous statement that the so-called <i>WDR37</i>-<i>PACS1</i>-<i>PACS2</i> axis might have an important role in ocular development and also that the specific ocular findings could be useful in the clinical differentiation between these related syndromes.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"14 2","pages":"143-151"},"PeriodicalIF":1.1,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10090972/pdf/msy-0014-0143.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9321835","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":"The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous <i>COG5</i> c.95T>G Variant.","authors":"Murat Buyukdogan,&nbsp;Veysel Sabri Hancer,&nbsp;Ayhan Sucak","doi":"10.1159/000527221","DOIUrl":"10.1159/000527221","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital disorders of glycosylation (CDG) are autosomal recessive hereditary genetic disorders characterized by abnormal glycosylation of N-linked oligosaccharides.</p><p><strong>Case presentation: </strong>In this research, prenatal testing (24th week of pregnancy) revealed findings like polyhydramnios, hydrocephaly, abnormal facial features/shape, brain morphology abnormality, spina bifida, vertebral column abnormality, macrocephaly, scoliosis, micrognathia, abnormal kidney morphology, short fetal femur length, and short fetal humerus length in the fetus. Whole-exome sequencing was performed; the <i>COG5</i> gene has shown a pathogenic variant.</p><p><strong>Discussion: </strong>Homozygous patients have never been seen before in the literature for COG5-CDG. We demonstrate the first CDG patient at fetus stage with homozygous <i>COG5</i> c.95T>G variant.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"14 2","pages":"181-183"},"PeriodicalIF":1.1,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091003/pdf/msy-0014-0181.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9316750","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":"Two Patients Diagnosed as Succinate Dehydrogenase Deficiency: Case Report.","authors":"Burcu Civelek Ürey,&nbsp;Ahmet Cevdet Ceylan,&nbsp;Büşranur Çavdarlı,&nbsp;Ayşegül Neşe Çıtak Kurt,&nbsp;Oya Kıreker Köylü,&nbsp;Burak Yürek,&nbsp;Çiğdem Seher Kasapkara","doi":"10.1159/000527538","DOIUrl":"10.1159/000527538","url":null,"abstract":"<p><strong>Introductıon: </strong>Succinate dehydrogenase deficiency, also known as mitochondrial complex II deficiency, is a rare inborn error of metabolism, accounting for approximately 2% of mitochondrial disease. Mutations in the four genes <i>SDHA, B, C,</i>and <i>D</i> have been reported resulting in diverse clinical presentations. The vast majority of clinically affected individuals reported in the literature harbor genetic variants within the <i>SDHA</i> gene and present with a Leigh syndrome phenotype, clinically defined as a subacute necrotizing encephalopathy.</p><p><strong>Case report: </strong>Herein, we report the first case of a 7-year-old child who was diagnosed as having succinate dehydrogenase deficiency. The affected child presented at 1 year of age with encephalopathy and developmental regression following viral illnesses. MRI changes supported a clinical diagnosis of Leigh syndrome and c.1328C>Q and c.872A>C <i>SDHA</i> variants were identified as compound heterozygous. Mitochondrial cocktail treatment including L-carnitine, riboflavin, thiamine, biotin, and ubiquinone was started. Mild clinical improvement was observed after treatment. He is now unable to walk and speak. The second patient, a 21-year-old woman, presented with generalized muscle weakness, easy fatigability, and cardiomyopathy. Investigations revealed increased lactate level of 67.4 mg/dL (4.5-19.8) with repeatedly increased plasma alanine levels 1,272 µmol/L (200-579). We administered carnitine, coenzyme, riboflavin, and thiamine for empirical therapy with the suspicion of mitochondrial disease. Clinical exome sequencing revealed compound heterozygous variants NM_004168.4:c.1945_1946del (p.Leu649GlufsTer4) at exon 15 of the <i>SDHA</i> gene and NM_004168.4:c.1909-12_1909-11del at intron 14 of <i>SDHA</i> gene.</p><p><strong>Discussion and conclusion: </strong>There are several very different presentations including Leigh syndrome, epileptic encephalopathy, and cardiomyopathy. Some cases present following viral illness; this feature is not specific to mitochondrial complex II deficiency and occurs in many other mitochondrial disease presentations. There is no cure for complex II deficiency, though some reported patients showed clinical improvement following riboflavin therapy. Riboflavin is not the only therapeutic intervention that is available to patients with an isolated complex II deficiency and various other compounds have shown promise in the treatment of symptoms, including L-carnitine and ubiquinone. Treatment alternatives such as parabenzoquinone EPI-743 and rapamycin are under study in the treatment of the disease.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"14 2","pages":"171-174"},"PeriodicalIF":1.1,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10090973/pdf/msy-0014-0171.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9316752","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":"Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome.","authors":"G Tutku Turgut,&nbsp;Ibrahim Halil Kalelioglu,&nbsp;Volkan Karaman,&nbsp;Tugba Sarac Sivrikoz,&nbsp;Birsen Karaman,&nbsp;Zehra Oya Uyguner,&nbsp;Tugba Kalayci","doi":"10.1159/000527955","DOIUrl":"10.1159/000527955","url":null,"abstract":"<p><strong>Introduction: </strong>GDF5-BMPR1B signaling pathway-associated chondrodysplasias are a genetically heterogeneous group of conditions with significant phenotypic and genotypic overlap, consisting of Hunter-Thompson-type acromesomelic dysplasia, Grebe dysplasia, and Du Pan syndrome. Constituting a spectrum of clinical severity, these disorders are characterized by disproportionate short stature mainly involving middle and distal segments of the extremities. Du Pan syndrome represents the mildest end of this spectrum with less marked shortened limbs, fibular agenesis or hypoplasia, absence of frequent joint dislocations, and carpotarsal fusions with deformed phalangeal bones.</p><p><strong>Case presentation: </strong>Here, we report the first prenatal diagnosis of Du Pan syndrome based on the sonographic findings of bilateral fibular agenesis and ball-shaped toes mimicking preaxial polydactyly accompanying subtle brachydactyly in the family. <i>GDF5</i> (NM_000557.5) sequencing identified a homozygous pathogenic variant c.1322T>C, p.(Leu441Pro) in the fetus and confirmed the carrier status in the mother.</p><p><strong>Discussion: </strong>We suggest that the presence of bilateral fibular agenesis and the apparent image of preaxial polydactyly of the feet on prenatal ultrasound should alert suspicion to Du Pan syndrome, with the latter possibly being a sonographic pitfall. Alongside the fetal imaging, a detailed clinical examination of the expectant parents is also of great importance in establishing a preliminary diagnosis of Du Pan syndrome, as well as the other GDF5-BMPR1B-associated chondrodysplasias.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"14 2","pages":"152-157"},"PeriodicalIF":1.1,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/36/2e/msy-0014-0152.PMC10091002.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9316755","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":"A Case of Short Stature Caused by a Mutation in the <i>ACAN</i> Gene.","authors":"Emine Karatas,&nbsp;Mikail Demir,&nbsp;Firat Ozcelik,&nbsp;Leyla Kara,&nbsp;Esra Akyurek,&nbsp;Ugur Berber,&nbsp;Nihal Hatipoglu,&nbsp;Yusuf Ozkul,&nbsp;Munis Dundar","doi":"10.1159/000526166","DOIUrl":"10.1159/000526166","url":null,"abstract":"<p><strong>Introduction: </strong>Aggrecanopathies are rare disorders associated with idiopathic short stature. They are caused by pathogenic changes in the <i>ACAN</i> gene located on chromosome 15q26. In this study, we present a case of short stature caused by mutations in the <i>ACAN</i> gene.</p><p><strong>Case presentation: </strong>A 3-year-3-month-old male patient was referred to us because of his short stature. Physical examination revealed proportional short stature, frontal bossing, macrocephaly, midface hypoplasia, ptosis in the right eye, and wide toes. When the patient was 6 years and 3 months old, his bone age was compatible with 7 years of age. The patient underwent clinical exome sequencing and a heterozygous nonsense c.1243G>T, p.(Glu415*) pathogenic variant was detected in the <i>ACAN</i> gene. The same variant was found in his phenotypically similar father. Our patient is the second case with ptosis.</p><p><strong>Discussion: </strong><i>ACAN</i> gene mutation should be considered in the differential diagnosis of patients with idiopathic short stature. The development and widespread use of next-generation sequencing technology has increased the diagnostic and treatment possibilities.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"14 2","pages":"123-128"},"PeriodicalIF":1.1,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091005/pdf/msy-0014-0123.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9321834","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}