Journal of rare diseases (Berlin, Germany)最新文献

{"title":"Widespread service fragmentation for patients and families with tuberous sclerosis complex (TSC) in the Republic of Ireland.","authors":"M Vasseghi, C Behan, A Connolly, D Cunningham, E Dempsey, C Flynn, M Galvin, G Griffin, P Moloney, M Murphy, Y Owen, S O'Malley, G O'Rourke, O O'Sullivan, C P Doherty","doi":"10.1007/s44162-024-00049-8","DOIUrl":"10.1007/s44162-024-00049-8","url":null,"abstract":"<p><strong>Background: </strong>Tuberous sclerosis complex (TSC) is a rare approximate 1:6000 birth incidence, a genetic disease with a wide variability of physical and neuropsychiatric symptoms. Patients require lifelong care from multiple healthcare specialities, for which International and United Kingdom (UK) TSC consensus recommendations exist. Personalised care delivered by a centralised coordinated team of TSC experts is recommended. There is no such service for the estimated 600 TSC patients in the Republic of Ireland (ROI) and there is a paucity of information regarding the healthcare of this group.</p><p><strong>Purpose: </strong>Evaluate the baseline care of patients with TSC attending epilepsy services in the Republic of Ireland (ROI) against UK TSC consensus recommendations.</p><p><strong>Methods: </strong>Patients with a diagnosis of TSC attending 12 adult and paediatric epilepsy centres in the ROI were identified. Clinical audits measured the baseline care of a subset of these patients against UK, TSC clinical recommendations. Data was anonymised and analysed at Trinity College Dublin.</p><p><strong>Results: </strong>One hundred thirty-five TSC patients attending twelve epilepsy centres were identified. Adults (<i>n</i> = 67) paediatric (<i>n</i> = 68). The care of 83 patients was audited (<i>n</i> = 63 ≥ 18 years) and (<i>n</i> = 20 < 18 years). Many baseline tests were completed, however, they required intra or interhospital referral. Care appears fragmented and there was no evidence of formal disease surveillance plans.</p><p><strong>Conclusions: </strong>The number of TSC patients attending epilepsy services is lower than expected (<i>n</i> = 135). Specialist services and treatments for TSC are available through informal referral pathways. Although UK, TSC consensus baseline recommendations are roughly adhered to, care is fragmented. Increased coordination of care could benefit disease management.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s44162-024-00049-8.</p>","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11330946/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142010057","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}

{"title":"Diverse retinal-kidney phenotypes associated with <i>NPHP1</i> homozygous whole-gene deletions in patients with kidney failure.","authors":"Gavin Esson, Ian Logan, Katrina Wood, Andrew C Browning, John A Sayer","doi":"10.1007/s44162-024-00031-4","DOIUrl":"10.1007/s44162-024-00031-4","url":null,"abstract":"<p><p>A precise diagnosis in medicine allows appropriate disease-specific management. Kidney failure of unknown aetiology remains a frequent diagnostic label within the haemodialysis unit and kidney transplant clinic, accounting for 15-20% of these patients. Approximately 10% of such cases may have an underlying monogenic cause of kidney failure. Modern genetic approaches can provide a precise diagnosis for patients and their families. A search for extra-renal disease manifestations is also important as this may point to a specific genetic diagnosis. Here, we present two patients where molecular genetic testing was performed because of kidney failure of unknown aetiology and associated retinal phenotypes. The first patient reached kidney failure at 16 years of age but only presented with a retinal phenotype at 59 years of age and was found to have evidence of rod-cone dystrophy. The second patient presented with childhood kidney failure at the age of 15 years and developed visual difficulties and photophobia at the age of 32 years and was diagnosed with cone dystrophy. In both cases, genetic tests were performed which revealed a homozygous whole-gene deletion of <i>NPHP1</i>-encoding nephrocystin-1, providing the unifying diagnosis of Senior-Løken syndrome type 1. We conclude that reviewing kidney and extra-renal phenotypes together with targeted genetic testing was informative in these cases of kidney failure of unknown aetiology and associated retinal phenotypes. The involvement of an interdisciplinary team is advisable when managing such patients and allows referral to other relevant specialities. The long time lag and lack of diagnostic clarity and clinical evaluation in our cases should encourage genetic investigations for every young patient with unexplained kidney failure. For these and similar patients, a more timely genetic diagnosis would allow for improved management, a risk assessment of kidney disease in relatives, and the earlier identification of extra-renal disease manifestations.</p><p><strong>Supplementary information: </strong>The online version contains supplementary material available at 10.1007/s44162-024-00031-4.</p>","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10904492/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140023602","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}

{"title":"Explaining Alport syndrome-lessons from the adult nephrology clinic.","authors":"Holly Mabillard, Rebecca Ryan, Nik Tzoumas, Susie Gear, John A Sayer","doi":"10.1007/s44162-024-00036-z","DOIUrl":"10.1007/s44162-024-00036-z","url":null,"abstract":"<p><p>Alport syndrome is a genetic kidney disease that causes worsening of kidney function over time, often progressing to kidney failure. Some types of Alport syndrome cause other symptoms and signs, including hearing loss and eye abnormalities. Research now indicates that Alport syndrome (autosomal dominant inheritance) is the most common form. Alport syndrome can have X-linked or a rare form of autosomal recessive inheritance. Traditionally, a kidney biopsy was used to diagnose Alport syndrome, but genetic testing provides a more precise and less invasive means of diagnosis and reveals the underlying pattern of inheritance. At present, there are no specific curative treatments for Alport syndrome however there is a strong international effort in pursuit of future therapies. Currently, angiotensin-converting enzyme inhibitors (ACEi), or an angiotensin receptor blocker (ARB) if a patient cannot tolerate an ACEi, slow down the progression of kidney disease and can delay the onset of kidney failure by years. There are other potential treatments in research that potentially can help delay the onset of kidney issues. Early treatment of patients and identification of their at-risk relatives is a priority. People living with Alport syndrome and their doctors now benefit from an active international research community working on translating further treatments into clinical practice and providing up-to-date clinical guidelines.</p>","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11088994/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140924040","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}

{"title":"FDrisk: development of a validated risk assessment tool for Fabry disease utilizing electronic health record data.","authors":"Caryn J Lobel, Dawn A Laney, Jingjing Yang, David Jacob, Amy Rickheim, Carol Z Ogg, Diana Clynes, Jessica Dronen","doi":"10.1007/s44162-023-00026-7","DOIUrl":"10.1007/s44162-023-00026-7","url":null,"abstract":"<p><strong>Purpose: </strong>Fabry disease (FD) is a rare, X-linked, lysosomal storage disease characterized by great variability in clinical presentation and progressive multisystemic organ damage. Lack of awareness of FD and frequent misdiagnoses cause long diagnostic delays. To address the urgent need for earlier diagnosis, we created an online, risk-assessment scoring tool, the FDrisk, for predicting an individual's risk for FD and prompting diagnostic testing and clinical evaluation.</p><p><strong>Methods: </strong>Utilizing electronic health records, data were collected retrospectively from randomly selected, deidentified patients with FD treated at the Emory Lysosomal Storage Disease Center. Deidentified, negative controls were randomly selected from the Fabry Disease Diagnostic Testing and Education project database, a program within the American Association of Kidney Patients Center for Patient Education and Research. Diagnosis of FD was documented by evidence of a pathogenic variant in <i>GLA</i> and/or an abnormal level of leukocyte α-Gal A. Thirty characteristic clinical features of FD were initially identified and subsequently curated into 16 clinical covariates used as predictors for the risk of FD. An overall prediction model and two sex-specific prediction models were built. Two-hundred and sixty samples (130 cases, 130 controls) were used to train the risk prediction models. One-hundred and ninety-seven independent samples (30 cases, 167 controls) were used for testing model performance. Prediction accuracy was evaluated using a threshold of 0.5 to determine a predicted case vs. control.</p><p><strong>Results: </strong>The overall risk prediction model demonstrated 80% sensitivity, 83.8% specificity, and positive predictive value of 47.1%. The male model demonstrated 75% sensitivity, 95.8% specificity, and positive predictive value of 75%. The female model demonstrated 83.3% sensitivity, 81.3% specificity, and positive predictive value of 45.5%. Patients with risk scores at or above 50% are categorized as \"at risk\" for FD and should be sent for diagnostic testing.</p><p><strong>Conclusion: </strong>We have developed a statistical risk prediction model, the FDrisk, a validated, clinician-friendly, online, risk-assessment scoring tool for predicting an individual's risk for FD and prompting diagnostic testing and clinical evaluation. As an easily accessible, user-friendly scoring tool, we believe implementing the FDrisk will significantly decrease the time to diagnosis and allow earlier initiation of FD-specific therapy.</p>","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10766665/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139378941","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}

{"title":"Finerenone and other future therapeutic options for Alport syndrome","authors":"Helen Pearce, Holly Mabillard","doi":"10.1007/s44162-023-00022-x","DOIUrl":"https://doi.org/10.1007/s44162-023-00022-x","url":null,"abstract":"Abstract Alport syndrome is a rare genetic disease that results in disordered basement membrane type IV collagen resulting in haematuria, proteinuria and often development of renal fibrosis leading to progressive kidney disease. The therapeutic blockage of the renin-angiotensin-aldosterone system, which slows the progression to kidney failure, is supported by strong evidence. Recent clinical trials using sodium-glucose co-transporter-2 (SGLT2) inhibitors and mineralocorticoid receptor antagonists (MRA) in patients with chronic kidney disease have changed the therapeutic landscape. Patients with Alport syndrome and progressive kidney disease may benefit from treatment with MRAs because research has shown that these drugs are nephroprotective through a variety of mechanisms, including by preventing fibrosis. Ongoing clinical trials show great promise in order to help establish the long-term safety and efficacy of Finerenone, a MRA. This review discusses the evidence for the use of MRAs as a potential treatment in Alport syndrome that may slow the progression of chronic kidney disease and prevent patients reaching kidney failure.","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135341248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of a phone application for assessing fatigue levels in rare disorders: a feasibility and validity study","authors":"Virginia W. T. Chu, Samantha J. Payne, Mackenzie P. Hunter, Stacey Reynolds","doi":"10.1007/s44162-023-00021-y","DOIUrl":"https://doi.org/10.1007/s44162-023-00021-y","url":null,"abstract":"Abstract Purpose Barth syndrome (BTHS) is a rare genetic disorder characterized by skeletal myopathy, cardiomyopathy, and exercise intolerance due to early fatigue. The purpose of this study was to test the feasibility and validity of a new phone application designed to capture multi-dimensional aspects of fatigue across the lifespan. The specific study aims were to (1) assess the feasibility of using the app to record perceived fatigue levels in real-time, (2) evaluate discriminant validity by assessing if the app can differentiate between those with and without BTHS, and (3) content validity by assessing the relationship between perceived energy levels and actual energy expenditure. Methods Eighteen participants with BTHS and 18 age-matched control participants completed the study. The participants wore an activity tracker for 14 days and were prompted to respond to an Android app to report their fatigue levels 6 × /day. Statistical analysis was completed to examine perceived fatigue and the relationship between reported fatigue and actual energy expenditure. Results Feasibility was supported by the majority of participants responding to at least 50% of the application prompts and scores indicative of good internal consistency between responses (92–95%) and reliability of the battery scale ( p < .001). Discriminant validity of the app was only partially supported, with the number of “crashes” being significantly different between those with and without BTHS ( p = 0.042). Other measures of perceived fatigue were not found to be significantly different between groups, even though individuals with BTHS showed significantly lower energy expenditure than control participants during the day as measured by actigraphy ( p < 0.001). Content validity of the app was supported, with perceived energy levels significantly correlating with actual energy expenditure collected with the activity tracker ( p < 0.001). Conclusions In summary, the phone app developed by our team allowed researchers to capture the lived experience of individuals with BTHS while also capturing objective data. We verified that the app was able to consistently and accurately capture participant-reported fatigue. The battery scale tested as part of our feasibility aim was successful in capturing perceived levels of energy and can be used as a valid measure of fatigue in future studies. It was interesting to note that “crashes” appear to be the main differentiating factor in fatigue between the BTHS and control participants, where other measures of perceived fatigue were not found to be significantly different. These results highlight the complex nature of measuring fatigue as a subjective construct. This study provides foundational information on methods for quantifying fatigue in adults, adolescents, and children with BTHS and can provide possible targets for future therapeutic trials.","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135585087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The National Israeli Registry for Oculo-Pharyngeal Muscular Dystrophy (IsrO-PMD): rationale and design","authors":"Jonah E. Stern, Alex Zvulunov, Amir Dori, Hagit Charas, Limor Benyamini, Guy Ben Simon, Lilya Mentzer, Lior Greenbaum, Silvina Friedlander-Barenboim, Shahar Shelly","doi":"10.1007/s44162-023-00020-z","DOIUrl":"https://doi.org/10.1007/s44162-023-00020-z","url":null,"abstract":"Abstract Background Oculo-pharyngeal muscular dystrophy (OPMD) is a rare disease, caused by trinucleotide repeat expansion in the PABPN1 gene, inherited in an autosomal dominant (AD) manner. Its main features are eyelid ptosis and dysphagia, which manifest at the end of the fifth decade of life. Other symptoms include proximal muscle weakness and bulbar muscle weakness. Although OPMD is prevalent worldwide, a higher prevalence has been reported in the Jewish population from Bukhara. Currently, no specific drugs are available for OPMD. Objective Our National Israeli Registry for Oculo-Pharyngeal Muscular Dystrophy (IsrO-PMD) study aims to provide a framework for the assessment and documentation of the natural history of the diseases as we as a multi-disciplinary management of patients with OPMD. The IsrO-PMD may be the cornerstone of future clinical trials for novel therapies for OPMD. Methods The IsrO-PMD is a national prospective registry that involves non-interventional data collection based on the Global Rare Diseases Patient Registry (GRDPR) and data repository standard. Inclusion criteria are clinical diagnosis of OPMD and positive genetic testing. Patients who meet inclusion criteria will be examined using a series of multi-disciplinary investigations and questionnaires including periodic follow-up examinations. Specific attention is given to comprehensive neurological, swallowing, and ophthalmological evaluations. Discussion The establishment of this national registry will enhance our understanding of the natural history of OPMD, establish quality care benchmarks, and develop treatment strategies in addressing the multi-system pathophysiology of the disease and associated comorbidities. Our registry provides a foundation for the use of new cutting-edge treatments as they become available.","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135161520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Insulin resistance syndrome presenting with diabetic ketoacidosis — a rare presentation","authors":"Nisha Batra, Kirandeep Kaur, Kavita Kadian, Kalyani Sridharan, Nisha Batra","doi":"10.1007/s44162-023-00018-7","DOIUrl":"https://doi.org/10.1007/s44162-023-00018-7","url":null,"abstract":"Abstract We report an adolescent male who presented with diabetic ketoacidosis (DKA). He was diagnosed to have type 1 diabetes mellitus at the age of 12 years and had been initiated on insulin. On physical examination, he had a distinct senile-looking coarse facies with clinical stigmata of insulin resistance in the form of acanthosis nigricans and hypertrichosis. Additionally, he required more than 3 units/kg/day of insulin during recovery from DKA. The clinical and biochemical profile of the patient led to the suspicion of insulin resistance syndrome which was confirmed by the detection of homozygous missense variation in exon 2 of the insulin receptor gene ( INSR ) on clinical exome testing. The patient was put on insulin sensitizers along with insulin which led to a marked improvement in glycemic control. The case highlights the importance of a good clinical examination for a correct diagnosis and discusses the challenges in management.","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134947221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Overall assessment of patients with type 1 Gaucher disease: a single-centre’s experience","authors":"Huseyin Dursun, Esra Yildizhan, Fahri Bayram","doi":"10.1007/s44162-023-00019-6","DOIUrl":"https://doi.org/10.1007/s44162-023-00019-6","url":null,"abstract":"Abstract Purpose To evaluate the demographic and clinical data of patients with type 1 Gaucher disease, a rare disease, at a single centre. Methods The data of patients with type 1 Gaucher disease who were followed up at the Endocrinology Department of Erciyes University’s Medical Faculty Hospital between 2019 and 2021 were evaluated. Results We evaluated 13 patients with type 1 Gaucher disease who were diagnosed or followed up at our centre and whose data could be accessed. Four of the patients were male, and nine were female. The mean age at the time of diagnosis was 33 (± 11.32) years. Hepatomegaly was present in 11 of the 13 patients. Eight of the 13 patients had splenomegaly. Three patients had undergone splenectomy. The liver and spleen dimensions of two patients were normal. The platelet count was normal in three of the 10 patients without a history of undergoing splenectomy. Bone densitometry revealed that six patients had a lumbar z-score of ≤ − 2.5. Five patients had a score between − 1 and − 2.5, and two patients had a normal z-score. The mean treatment duration was 36 (± 19.46) months. All our patients were administered enzyme replacement therapy. Conclusion Gaucher disease is a rare lysosomal storage disease that affects many systems. It causes irreversible morbidity in patients in whom diagnosis is delayed. The main treatment modality was enzyme replacement therapy. Because it is a rare and multisystemic disease, patients should be followed up at centres with experience in treating Gaucher disease.","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135791279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Swyer syndrome: a rare cause of primary amenorrhea","authors":"Ujjwala Sandilya, Sangam Jha","doi":"10.1007/s44162-023-00016-9","DOIUrl":"https://doi.org/10.1007/s44162-023-00016-9","url":null,"abstract":"","PeriodicalId":73925,"journal":{"name":"Journal of rare diseases (Berlin, Germany)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41546449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}