Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia
CONCLUSIONS: This highlights the importance of considering rare inherited causes of visual loss, spinocerebellar ataxia, or/and HH in a neurology clinic and the significant role of genetic sequencing in the diagnostic process.PMID:38683245 | DOI:10.1007/s11033-024-09515-4 (Source: Molecular Biology Reports)
Source: Molecular Biology Reports - April 29, 2024 Category: Molecular Biology Authors: Andreas Liampas Paschalis Nicolaou Christina Votsi Anthi Georghiou Kyproula Christodoulou George A Tanteles Marios Pantzaris 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
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
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
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
