Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain
CONCLUSION: The prevalence of GMs can vary considerably depending on the geographical region and the studied population. The analysis of diagnostic yield suggests that genetic studies should be considered useful in the diagnosis of genetic myopathies.PMID:38682761 | DOI:10.33588/rn.7809.2024071 (Source: Revista de Neurologia)
Source: Revista de Neurologia - April 29, 2024 Category: Neurology Authors: P Ros-Arlanz ón L Pelegr ín-Durá C Aledo-Sala L Moreno-Navarro Y Vaamonde-Esteban A Mu ñoz-Ambit R S ánchez-Pérez C D íaz-Marín Source Type: research
Undifferentiated Embryonal Sarcoma of the Liver with Epithelioid Features: A Case Report of an Exceptional Histological Heterogeneity among Rare Diseases
CONCLUSION: UESL is associated with a poor prognosis, especially in adults, but a comprehensive and multidisciplinary treatment based on radical resection and adjuvant therapy may provide a survival benefit. Surgical excision with negative margins remains mandatory to diagnose and treat UESL.PMID:38684493 | DOI:10.62713/aic.3374 (Source: Annali Italiani di Chirurgia)
Source: Annali Italiani di Chirurgia - April 29, 2024 Category: Surgery Authors: Alessia Kersik Greta Bracchetti Alessandro Bonomi Giorgio Bovo Maria Serena Cuttin Alessandro Germini Elson Gjoni Stefano Granieri Christian Cotsoglou Source Type: research
The Joint Vasculitis Registry in German-speaking countries (GeVas): subgroup analysis of 195 GCA patients
CONCLUSIONS: Regarding demographics, clinical manifestations and diagnostics, our study showed a similar composition compared to other studies. However, our data differed in terms of treatment regimens.PMID:38683207 | DOI:10.55563/clinexprheumatol/d3o0gu (Source: Clinical and Experimental Rheumatology)
Source: Clinical and Experimental Rheumatology - April 29, 2024 Category: Rheumatology Authors: Pia Wallmeier Sabrina Arnold Arlette Tais Gabriele Ihorst Marco Janoschke Fabian Schubach Peer Aries Raoul Bergner Jan Phillip Bremer Norman G örl Eva Gutdeutsch Bernhard Hellmich J örg Henes Bimba Franziska Hoyer Antje Kangowski Ina K ötter Martin Kru Source Type: research
Chronic non-bacterial osteomyelitis (CNO) and chronic recurrent multifocal osteomyelitis (CRMO) with a focus on pamidronate therapy
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2024 Apr 27. doi: 10.5507/bp.2024.007. Online ahead of print.ABSTRACTChronic recurrent multifocal osteomyelitis (CRMO), also called chronic nonbacterial osteomyelitis (CNO) or nonbacterial osteomyelitis (NBO), is a rare autoinflammatory bone disease of unknown etiology. However, the number of patients properly diagnosed would increase with better knowledge of the disease. In this regard, whole-body magnetic resonance imaging (WB MRI) has been found to be a better predictor of active lesions than clinical examination. Importantly, the RINBO index (radiologic index for NBO...
Source: Biomedical Papers of the Medical Faculty of the Univ Palacky Olomouc Czech Repub - April 29, 2024 Category: Biomedical Science Authors: Katerina Bouchalova Zuzana Pytelova Source Type: research
Undifferentiated Embryonal Sarcoma of the Liver with Epithelioid Features: A Case Report of an Exceptional Histological Heterogeneity among Rare Diseases
CONCLUSION: UESL is associated with a poor prognosis, especially in adults, but a comprehensive and multidisciplinary treatment based on radical resection and adjuvant therapy may provide a survival benefit. Surgical excision with negative margins remains mandatory to diagnose and treat UESL.PMID:38684493 | DOI:10.62713/aic.3374 (Source: Annali Italiani di Chirurgia)
Source: Annali Italiani di Chirurgia - April 29, 2024 Category: Surgery Authors: Alessia Kersik Greta Bracchetti Alessandro Bonomi Giorgio Bovo Maria Serena Cuttin Alessandro Germini Elson Gjoni Stefano Granieri Christian Cotsoglou Source Type: research
Epidemiology and molecular characterization of adult genetic myopathies in a southeastern region of Spain
CONCLUSION: The prevalence of GMs can vary considerably depending on the geographical region and the studied population. The analysis of diagnostic yield suggests that genetic studies should be considered useful in the diagnosis of genetic myopathies.PMID:38682761 | DOI:10.33588/rn.7809.2024071 (Source: Revista de Neurologia)
Source: Revista de Neurologia - April 29, 2024 Category: Neurology Authors: P Ros-Arlanz ón L Pelegr ín-Durá C Aledo-Sala L Moreno-Navarro Y Vaamonde-Esteban A Mu ñoz-Ambit R S ánchez-Pérez C D íaz-Marín Source Type: research
Epidemiology of autoimmune liver disease in Korea: evidence from a nationwide real-world database
Autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), and primary sclerosing cholangitis (PSC) are all immune-mediated chronic inflammatory liver diseases. Autoimmune liver diseases are rare, making i... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 29, 2024 Category: Internal Medicine Authors: Jihye Lim and Hwa Jung Kim Tags: Research Source Type: research
Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses
Mucopolysaccharidoses (MPSs) are caused by a deficiency in the enzymes needed to degrade glycosaminoglycans (GAGs) in the lysosome. The storage of GAGs leads to the involvement of several systems and even to t... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 29, 2024 Category: Internal Medicine Authors: Jing-Wen Li, Shao-Jia Mao, Yun-Qi Chao, Chen-Xi Hu, Yan-Jie Qian, Yang-Li Dai, Ke Huang, Zheng Shen and Chao-Chun Zou Tags: Review Source Type: research
Primary Vocal Cord Aspergillosis Can Involve the Trachea and Bronchus in Previously Healthy Patients: A Case Report
Ear Nose Throat J. 2024 Apr 27:1455613241249097. doi: 10.1177/01455613241249097. Online ahead of print.ABSTRACTPrimary vocal cord aspergillosis is extremely rare in immunocompetent individuals, in whom lesions are mainly confined to the larynx, with the possibility of tracheal and bronchial infection largely ignored. In this article, we present a case of primary vocal cord aspergillosis involving the trachea and bronchus in a previously healthy 55-year-old woman. Our case highlights that vocal cord aspergillosis can involve the trachea and bronchus and that laryngoscopy alone may be insufficient to secure a comprehensive d...
Source: Ear, Nose and Throat Journal - April 27, 2024 Category: ENT & OMF Authors: Huasheng Wei Weilin Wang Qinwen Bai Zhihui Li Source Type: research
Addressing Thalassaemia Management from Patients' Perspectives: An International Collaborative Assessment
Conclusions: Important improvements in the care of thalassaemia patients have been documented during the past few decades. Nevertheless, additional focus is required through national healthcare systems to effectively address the many unmet needs revealed by our recent survey, as well as to achieve satisfactory patient outcomes.PMID:38674296 | PMC:PMC11052322 | DOI:10.3390/medicina60040650 (Source: Medicina (Kaunas))
Source: Medicina (Kaunas) - April 27, 2024 Category: Universities & Medical Training Authors: Eleftheria C Economidou Michael Angastiniotis Demetris Avraam Elpidoforos S Soteriades Androulla Eleftheriou Source Type: research
PRKD1-related Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: case report and review of the literature
We report on the 8th patient carrying a heterozygous de novo variation of PRKD1 c.2134G>A, p.(Val712Met) identified by trio exome sequencing. The proband presents with partial atrioventricular septal defect, brachydactyly, ectodermal dysplasia, telangiectasia that developed in childhood, intellectual disability with microcephaly, multicystic renal dysplasia and moderate hormonal resistance. In view of this 8th description and review of the literature, it appears that neurodevelopmental disorders and microcephaly are frequently associated with PRKD1 missense variants, adding to the four main clinical signs described init...
Source: European Journal of Medical Genetics - April 27, 2024 Category: Genetics & Stem Cells Authors: Fiona Leduc Thomas Smol Benoit Catteau Odile Boute Florence Petit Source Type: research
Primary Vocal Cord Aspergillosis Can Involve the Trachea and Bronchus in Previously Healthy Patients: A Case Report
Ear Nose Throat J. 2024 Apr 27:1455613241249097. doi: 10.1177/01455613241249097. Online ahead of print.ABSTRACTPrimary vocal cord aspergillosis is extremely rare in immunocompetent individuals, in whom lesions are mainly confined to the larynx, with the possibility of tracheal and bronchial infection largely ignored. In this article, we present a case of primary vocal cord aspergillosis involving the trachea and bronchus in a previously healthy 55-year-old woman. Our case highlights that vocal cord aspergillosis can involve the trachea and bronchus and that laryngoscopy alone may be insufficient to secure a comprehensive d...
Source: Ear, Nose and Throat Journal - April 27, 2024 Category: ENT & OMF Authors: Huasheng Wei Weilin Wang Qinwen Bai Zhihui Li Source Type: research
Addressing Thalassaemia Management from Patients' Perspectives: An International Collaborative Assessment
Conclusions: Important improvements in the care of thalassaemia patients have been documented during the past few decades. Nevertheless, additional focus is required through national healthcare systems to effectively address the many unmet needs revealed by our recent survey, as well as to achieve satisfactory patient outcomes.PMID:38674296 | PMC:PMC11052322 | DOI:10.3390/medicina60040650 (Source: Medicina (Kaunas))
Source: Medicina (Kaunas) - April 27, 2024 Category: Universities & Medical Training Authors: Eleftheria C Economidou Michael Angastiniotis Demetris Avraam Elpidoforos S Soteriades Androulla Eleftheriou Source Type: research
PRKD1-related Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: case report and review of the literature
We report on the 8th patient carrying a heterozygous de novo variation of PRKD1 c.2134G>A, p.(Val712Met) identified by trio exome sequencing. The proband presents with partial atrioventricular septal defect, brachydactyly, ectodermal dysplasia, telangiectasia that developed in childhood, intellectual disability with microcephaly, multicystic renal dysplasia and moderate hormonal resistance. In view of this 8th description and review of the literature, it appears that neurodevelopmental disorders and microcephaly are frequently associated with PRKD1 missense variants, adding to the four main clinical signs described init...
Source: European Journal of Medical Genetics - April 27, 2024 Category: Genetics & Stem Cells Authors: Fiona Leduc Thomas Smol Benoit Catteau Odile Boute Florence Petit Source Type: research
Primary Vocal Cord Aspergillosis Can Involve the Trachea and Bronchus in Previously Healthy Patients: A Case Report
Ear Nose Throat J. 2024 Apr 27:1455613241249097. doi: 10.1177/01455613241249097. Online ahead of print.ABSTRACTPrimary vocal cord aspergillosis is extremely rare in immunocompetent individuals, in whom lesions are mainly confined to the larynx, with the possibility of tracheal and bronchial infection largely ignored. In this article, we present a case of primary vocal cord aspergillosis involving the trachea and bronchus in a previously healthy 55-year-old woman. Our case highlights that vocal cord aspergillosis can involve the trachea and bronchus and that laryngoscopy alone may be insufficient to secure a comprehensive d...
Source: Ear, Nose and Throat Journal - April 27, 2024 Category: ENT & OMF Authors: Huasheng Wei Weilin Wang Qinwen Bai Zhihui Li Source Type: research
