Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients
Bardet-Biedl syndrome (BBS) is a type of non-motile ciliopathy. To date, 26 genes have been reported to be associated with BBS. However, BBS is genetically heterogeneous, with significant clinical overlap with... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 8, 2024 Category: Internal Medicine Authors: Shiyang Gao, Qianwen Zhang, Yu Ding, Libo Wang, Zhiying Li, Feihan Hu, Ru-en Yao, Tingting Yu, Guoying Chang and Xiumin Wang Tags: Research Source Type: research
The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype
We aim to describe the behavioral phenotype of children and adolescents with the good to intermediate attenuated form of non-ketotic hyperglycinemia (NKH) and to explore associations between the behavioral phe... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 8, 2024 Category: Internal Medicine Authors: Liesbet D. F. M. Van Hirtum, Tine Van Damme, Johan L. K. Van Hove and Jean G. Steyaert Tags: Research Source Type: research
The history of the international rare diseases research consortium (IRDiRC) and its conferences
Eur J Med Genet. 2024 Apr 5:104935. doi: 10.1016/j.ejmg.2024.104935. Online ahead of print.ABSTRACTIndividual researchers and consortia have been studying rare diseases for several decades. However, the rare disease community can be very fragmented mainly due to the large heterogeneity of rare diseases. Indeed, for many diseases, there is a very limited amount of researchers and resources available. Concerted efforts to organize the rare disease community and funding were emerging in several countries but so far, international coordination was rather limited. The International Rare Diseases Research Consortium (IRDiRC) aim...
Source: European Journal of Medical Genetics - April 7, 2024 Category: Genetics & Stem Cells Authors: David A Pearce Source Type: research
The history of the international rare diseases research consortium (IRDiRC) and its conferences
Eur J Med Genet. 2024 Apr 5:104935. doi: 10.1016/j.ejmg.2024.104935. Online ahead of print.ABSTRACTIndividual researchers and consortia have been studying rare diseases for several decades. However, the rare disease community can be very fragmented mainly due to the large heterogeneity of rare diseases. Indeed, for many diseases, there is a very limited amount of researchers and resources available. Concerted efforts to organize the rare disease community and funding were emerging in several countries but so far, international coordination was rather limited. The International Rare Diseases Research Consortium (IRDiRC) aim...
Source: European Journal of Medical Genetics - April 7, 2024 Category: Genetics & Stem Cells Authors: David A Pearce Source Type: research
Landscape analysis of available European data sources amenable for machine learning and recommendations on usability for rare diseases screening
Patient registries and databases are essential tools for advancing clinical research in the area of rare diseases, as well as for enhancing patient care and healthcare planning. The primary aim of this study i... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 6, 2024 Category: Internal Medicine Authors: Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Georgi Iskrov, Georgi Stefanov, Merja Vakevainen, Kaisa Elomaa, Yuen-Sum Man, Edith Gross, Jana Zsch üntzsch, Richard Röttger and Rumen Stefanov Tags: Research Source Type: research
Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
Most patients suffering from Leber hereditary optic neuropathy carry one of the three classic pathologic mutations, but not all individuals with these genetic alterations develop the disease. There are differe... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 6, 2024 Category: Internal Medicine Authors: Sonia Emperador, Mouna Habbane, Ester L ópez-Gallardo, Alejandro del Rio, Laura Llobet, Javier Mateo, Ana María Sanz-López, María José Fernández-García, Hortensia Sánchez-Tocino, Sol Benbunan-Ferreiro, María Calabuig-Goena, Carlos Narvaez-Palazó Tags: Research Source Type: research
Chronic underlying gastrointestinal amyloidosis was revealed by cardiac echography: a case report from Syria
CONCLUSION: This case reminds us to consider amyloidosis as a possible underlying cause for unexplained gastrointestinal symptoms such as diarrhoea, especially in bad economic situations where the diagnosis of rare diseases may be delayed.PMID:38576978 | PMC:PMC10990300 | DOI:10.1097/MS9.0000000000001901 (Source: Annals of Medicine)
Source: Annals of Medicine - April 5, 2024 Category: Internal Medicine Authors: Ali Asaad Yahia Ranjous Zein Aldeen Hassan Nazir Alahmad Lama Ghanimeh Ayman Ali Source Type: research
mRNA therapies: Pioneering a new era in rare genetic disease treatment
J Control Release. 2024 Apr 3:S0168-3659(24)00220-7. doi: 10.1016/j.jconrel.2024.03.056. Online ahead of print.ABSTRACTRare genetic diseases, often referred to as orphan diseases due to their low prevalence and limited treatment options, have long posed significant challenges to our medical system. In recent years, Messenger RNA (mRNA) therapy has emerged as a highly promising treatment approach for various diseases caused by genetic mutations. Chemically modified mRNA is introduced into cells using carriers like lipid-based nanoparticles (LNPs), producing functional proteins that compensate for genetic deficiencies. Given...
Source: Cancer Control - April 5, 2024 Category: Cancer & Oncology Authors: Guobo Shen Jian Liu Hanmei Yang Na Xie Yang Yang Source Type: research
Gene editing as a therapeutic strategy for spinocerebellar ataxia type-3
Rev Neurol (Paris). 2024 Apr 4:S0035-3787(24)00478-8. doi: 10.1016/j.neurol.2024.03.003. Online ahead of print.ABSTRACTSpinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is a neurodegenerative disease caused by expanded polyglutamine repeats in exon 10 of the ataxin-3 gene, ATXN3. The accumulation of mutant ATXN3 protein leads to severe clinical manifestations and premature death. Clinically, SCA3 pathology is characterized by progressive ataxia leading to motor incoordination that may affect balance, gait and speech, and neuropathologically by a progressive degeneration of the spinal cord and cere...
Source: Revue Neurologique - April 5, 2024 Category: Neurology Authors: N D églon Source Type: research
Successful treatment of immune checkpoint inhibitor-related periaortitis
We report a 64-year-old patient with melanoma receiving ipilimumab and nivolumab therapy who presented with a periaortic soft tissue mass around the abdominal aorta on restaging fluorodeoxyglucose positron emission tomography/computed tomography imaging. Clinical, laboratory, and radiologic findings resulted in a diagnosis of immune checkpoint inhibitor-related periaortitis. Periaortitis is a rare disease presenting with fibro-inflammatory tissue around the aorta and may lead to serious complications. Immune checkpoint inhibitors were discontinued, and the patient was treated with glucocorticoids, leading to a complete res...
Source: Swiss Medical Weekly - April 5, 2024 Category: General Medicine Authors: Elias D B ührer Ian L Alberts Lisa Christ Berna C Özdemir Source Type: research
Chronic underlying gastrointestinal amyloidosis was revealed by cardiac echography: a case report from Syria
CONCLUSION: This case reminds us to consider amyloidosis as a possible underlying cause for unexplained gastrointestinal symptoms such as diarrhoea, especially in bad economic situations where the diagnosis of rare diseases may be delayed.PMID:38576978 | PMC:PMC10990300 | DOI:10.1097/MS9.0000000000001901 (Source: Annals of Medicine)
Source: Annals of Medicine - April 5, 2024 Category: Internal Medicine Authors: Ali Asaad Yahia Ranjous Zein Aldeen Hassan Nazir Alahmad Lama Ghanimeh Ayman Ali Source Type: research
Gene editing as a therapeutic strategy for spinocerebellar ataxia type-3
Rev Neurol (Paris). 2024 Apr 4:S0035-3787(24)00478-8. doi: 10.1016/j.neurol.2024.03.003. Online ahead of print.ABSTRACTSpinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is a neurodegenerative disease caused by expanded polyglutamine repeats in exon 10 of the ataxin-3 gene, ATXN3. The accumulation of mutant ATXN3 protein leads to severe clinical manifestations and premature death. Clinically, SCA3 pathology is characterized by progressive ataxia leading to motor incoordination that may affect balance, gait and speech, and neuropathologically by a progressive degeneration of the spinal cord and cere...
Source: Revue Neurologique - April 5, 2024 Category: Neurology Authors: N D églon Source Type: research
Successful treatment of immune checkpoint inhibitor-related periaortitis
We report a 64-year-old patient with melanoma receiving ipilimumab and nivolumab therapy who presented with a periaortic soft tissue mass around the abdominal aorta on restaging fluorodeoxyglucose positron emission tomography/computed tomography imaging. Clinical, laboratory, and radiologic findings resulted in a diagnosis of immune checkpoint inhibitor-related periaortitis. Periaortitis is a rare disease presenting with fibro-inflammatory tissue around the aorta and may lead to serious complications. Immune checkpoint inhibitors were discontinued, and the patient was treated with glucocorticoids, leading to a complete res...
Source: Swiss Medical Weekly - April 5, 2024 Category: General Medicine Authors: Elias D B ührer Ian L Alberts Lisa Christ Berna C Özdemir Source Type: research
Successful treatment of immune checkpoint inhibitor-related periaortitis
We report a 64-year-old patient with melanoma receiving ipilimumab and nivolumab therapy who presented with a periaortic soft tissue mass around the abdominal aorta on restaging fluorodeoxyglucose positron emission tomography/computed tomography imaging. Clinical, laboratory, and radiologic findings resulted in a diagnosis of immune checkpoint inhibitor-related periaortitis. Periaortitis is a rare disease presenting with fibro-inflammatory tissue around the aorta and may lead to serious complications. Immune checkpoint inhibitors were discontinued, and the patient was treated with glucocorticoids, leading to a complete res...
Source: Swiss Medical Weekly - April 5, 2024 Category: General Medicine Authors: Elias D B ührer Ian L Alberts Lisa Christ Berna C Özdemir Source Type: research
