Assessment of central nervous system vasculitis in children based on high-resolution vascular wall imaging
CONCLUSION: This study underscores the diagnostic value of HR-VWI in CNSV assessment and treatment monitoring, offering a quantitative evaluation of CNSV in children.PMID:38605731 | PMC:PMC11009033 | DOI:10.1093/rap/rkae038 (Source: Adv Data)
Source: Adv Data - April 12, 2024 Category: Epidemiology Authors: Yimin Cao Yue Sun Zexi Yi Weixin Meng Xueying Zhao Xuran Feng Pingyong Feng Sicong Wang Mingfeng Zhang Lixia Zhou Source Type: research
Prolonged arthralgias in Whipple's disease - A common but often overlooked symptom of a rare disease
We report the case of a middle-aged man admitted for etiologic investigation of prolonged, migrating, and inflammatory arthralgias and subsequent development of gastrointestinal symptoms. Despite its reputation as a great mimicker of many different illnesses, the difficulty in diagnosis probably lies with its rarity rather than its masking.PMID:38606805 | DOI:10.1177/14782715241237283 (Source: Journal of the Royal College of Physicians of Edinburgh)
Source: Journal of the Royal College of Physicians of Edinburgh - April 12, 2024 Category: General Medicine Authors: Bernardo Tourais Canh ão Andr é Trigo Joana In ês Madeira Ad élia Simão Jo ão Madaleno Source Type: research
Lessons from prospective longitudinal follow-up of a French APECED cohort
CONCLUSION: This first prospective cohort showed a high AIRE genotype variability, with two new gene variants. The prevalence of potentially life-threatening non-endocrine manifestations, was higher with systematic screening. These manifestations could, along with age-dependent B-cell lymphopenia, contribute to disease severity. Systematic screening for all the manifestations of the syndrome would allow earlier diagnosis, supporting vaccination, and targeted therapeutic approaches.PMID:38605470 | DOI:10.1210/clinem/dgae211 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 12, 2024 Category: Endocrinology Authors: Linda Humbert Emmanuelle Proust-Lemoine Sylvain Dubucquoi Elisabeth Helen Kemp Pascale Saugier-Veber Nicole Fabien Isabelle Raymond-Top Catherine Cardot-Bauters Jean-Claude Carel Maryse Cartigny Olivier Chabre Philippe Chanson Brigitte Delemer Christine D Source Type: research
Prolonged arthralgias in Whipple's disease - A common but often overlooked symptom of a rare disease
We report the case of a middle-aged man admitted for etiologic investigation of prolonged, migrating, and inflammatory arthralgias and subsequent development of gastrointestinal symptoms. Despite its reputation as a great mimicker of many different illnesses, the difficulty in diagnosis probably lies with its rarity rather than its masking.PMID:38606805 | DOI:10.1177/14782715241237283 (Source: Journal of the Royal College of Physicians of Edinburgh)
Source: Journal of the Royal College of Physicians of Edinburgh - April 12, 2024 Category: General Medicine Authors: Bernardo Tourais Canh ão Andr é Trigo Joana In ês Madeira Ad élia Simão Jo ão Madaleno Source Type: research
Lessons from prospective longitudinal follow-up of a French APECED cohort
CONCLUSION: This first prospective cohort showed a high AIRE genotype variability, with two new gene variants. The prevalence of potentially life-threatening non-endocrine manifestations, was higher with systematic screening. These manifestations could, along with age-dependent B-cell lymphopenia, contribute to disease severity. Systematic screening for all the manifestations of the syndrome would allow earlier diagnosis, supporting vaccination, and targeted therapeutic approaches.PMID:38605470 | DOI:10.1210/clinem/dgae211 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - April 12, 2024 Category: Endocrinology Authors: Linda Humbert Emmanuelle Proust-Lemoine Sylvain Dubucquoi Elisabeth Helen Kemp Pascale Saugier-Veber Nicole Fabien Isabelle Raymond-Top Catherine Cardot-Bauters Jean-Claude Carel Maryse Cartigny Olivier Chabre Philippe Chanson Brigitte Delemer Christine D Source Type: research
Intestinal Langerhans cell histiocytosis presenting with symptoms similar to inflammatory bowel disease: a case report
CONCLUSION: The clinical symptoms of Langerhans cell histiocytosis involving the gastrointestinal tract are not specific and may resemble symptoms observed in inflammatory bowel disease and other primary gastrointestinal tumors. Therefore, in cases of infants presenting with inflammatory gastrointestinal symptoms that do not resolve after treatment, a biopsy is essential to obtain a differential diagnosis.PMID:38605931 | PMC:PMC11007090 | DOI:10.3389/pore.2024.1611705 (Source: Pathology Oncology Research)
Source: Pathology Oncology Research - April 12, 2024 Category: Pathology Authors: Yuqing Liu Zhenwei Chen Lu Wang Baizhou Li Source Type: research
Intestinal Langerhans cell histiocytosis presenting with symptoms similar to inflammatory bowel disease: a case report
CONCLUSION: The clinical symptoms of Langerhans cell histiocytosis involving the gastrointestinal tract are not specific and may resemble symptoms observed in inflammatory bowel disease and other primary gastrointestinal tumors. Therefore, in cases of infants presenting with inflammatory gastrointestinal symptoms that do not resolve after treatment, a biopsy is essential to obtain a differential diagnosis.PMID:38605931 | PMC:PMC11007090 | DOI:10.3389/pore.2024.1611705 (Source: Pathology Oncology Research)
Source: Pathology Oncology Research - April 12, 2024 Category: Pathology Authors: Yuqing Liu Zhenwei Chen Lu Wang Baizhou Li Source Type: research
Intestinal Langerhans cell histiocytosis presenting with symptoms similar to inflammatory bowel disease: a case report
CONCLUSION: The clinical symptoms of Langerhans cell histiocytosis involving the gastrointestinal tract are not specific and may resemble symptoms observed in inflammatory bowel disease and other primary gastrointestinal tumors. Therefore, in cases of infants presenting with inflammatory gastrointestinal symptoms that do not resolve after treatment, a biopsy is essential to obtain a differential diagnosis.PMID:38605931 | PMC:PMC11007090 | DOI:10.3389/pore.2024.1611705 (Source: Pathology Oncology Research)
Source: Pathology Oncology Research - April 12, 2024 Category: Pathology Authors: Yuqing Liu Zhenwei Chen Lu Wang Baizhou Li Source Type: research
Cancers, Vol. 16, Pages 1489: Availability and Access to Orphan Drugs for Rare Cancers in Bulgaria: Analysis of Delays and Public Expenditures
This study aimed to explore the availability and access to orphan drugs for rare cancers in Bulgaria for the period of 2020–2023. We cross-compared data from both the European Union and national public sources to evaluate the number of available and accessible orphan drugs for rare cancers, the delay from market authorization to reimbursement, the dynamics of public expenditures, and regional disparities in access across the country. We juxtaposed the main characteristics of oncological and non-oncological orphan drugs as well. Only 15 out of 50 oncological orphan drugs that were authorized by the European Me...
Source: Cancers - April 12, 2024 Category: Cancer & Oncology Authors: Kostadin Kostadinov Ivelina Popova-Sotirova Yuliyana Marinova Nina Musurlieva Georgi Iskrov Rumen Stefanov Tags: Article Source Type: research
Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults
This study retrospectively analyzed t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 12, 2024 Category: Internal Medicine Authors: Lili Cao, Xiuxin Ling, Jianguo Yan, Danni Feng, Yi Dong, Zhiqiang Xu, Fuchuan Wang, Shishu Zhu, Yinjie Gao, Zhenhua Cao and Min Zhang Tags: Research Source Type: research
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients
Primary periodic paralysis (PPP) is an inherited disorders of ion channel dysfunction characterized by recurrent episodes of flaccid muscle weakness, which can classified as hypokalemic (HypoPP), normokalemic ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 12, 2024 Category: Internal Medicine Authors: Xuechao Zhao, Haofeng Ning, Lina Liu, Chaofeng Zhu, Yinghui Zhang, Guifang Sun, Huanan Ren and Xiangdong Kong Tags: Research Source Type: research
Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods
Clinicians traditionally aim to identify a singular explanation for the clinical presentation of a patient; however, in some cases, the diagnosis may remain elusive or fail to comprehensively explain the clini... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 12, 2024 Category: Internal Medicine Authors: Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin & hellip; Tags: Research Source Type: research
Clinical investigator perspectives on patient outcomes in children with neuronopathic mucopolysaccharidosis II during intrathecal idursulfase-IT treatment
Mucopolysaccharidosis II (MPS II) is a rare lysosomal storage disease characterized by iduronate-2-sulfatase gene (IDS) deficiency and downstream glycosaminoglycan accumulation. Two-thirds of patients present wit... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 12, 2024 Category: Internal Medicine Authors: Karen S. Yee, David Alexanderian, Susan Martin, Bimpe Olayinka-Amao and David A. H. Whiteman Tags: Research Source Type: research
Biological characteristics and clinical treatment of pulmonary sarcomatoid carcinoma: a narrative review
CONCLUSIONS: Although several studies have examined and assessed the TME of PSC, these are limited in quantity and quality, presenting challenges for research into the clinical treatment strategies for PSC. With the emergence of new technologies and the advancement of clinical research, for example, savolitinib's clinical study for MET exon 14 skipping mutations positive PSC patients have shown promising outcomes, more in-depth studies on PSC are eagerly anticipated.PMID:38601447 | PMC:PMC11002509 | DOI:10.21037/tlcr-24-127 (Source: Cell Research)
Source: Cell Research - April 11, 2024 Category: Cytology Authors: Yuxuan Wei Lei Wang Zheng Jin Qingzhu Jia Luka Brcic Tomohiro Akaba Qian Chu Source Type: research
Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents
Fabry disease (FD) is a rare X-linked lysosomal storage disorder with a heterogeneous clinical presentation. Patients with FD may exhibit early signs/symptoms including neuropathic pain, gastrointestinal compl... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 11, 2024 Category: Internal Medicine Authors: Lisa Berry, Jerry Walter, Jack Johnson, Julia Alton, Janet Powers, Xavier Ll òria, Irene Koulinska, Meghan McGee and Dawn Laney Tags: Research Source Type: research
