Recurrent Venous Thromboembolism in Patients on Anticoagulation: An Update Based on the Revised AWMF S2k Guideline
Hamostaseologie. 2024 Apr;44(2):150-154. doi: 10.1055/a-2173-7729. Epub 2024 Apr 30.ABSTRACTIn the recently updated German S2k Guideline "Diagnostics and Therapy of Venous Thrombosis and Pulmonary Embolism," a new chapter was incorporated about recurrent venous thromboembolism (VTE) in patients on anticoagulation treatment. Despite the high efficacy of anticoagulation in most patients, approximately 2% experience a recurrent VTE event while receiving anticoagulant drugs. The proper diagnosis of the recurrent VTE is important and possible only with the knowledge of localization and thrombus burden of the primary VTE event. ...
Source: Hamostaseologie - April 30, 2024 Category: Hematology Authors: Robert Klamroth Hanno Riess Jan Beyer-Westendorf Birgit Linnemann Source Type: research
Recurrent Venous Thromboembolism in Patients on Anticoagulation: An Update Based on the Revised AWMF S2k Guideline
Hamostaseologie. 2024 Apr;44(2):150-154. doi: 10.1055/a-2173-7729. Epub 2024 Apr 30.ABSTRACTIn the recently updated German S2k Guideline "Diagnostics and Therapy of Venous Thrombosis and Pulmonary Embolism," a new chapter was incorporated about recurrent venous thromboembolism (VTE) in patients on anticoagulation treatment. Despite the high efficacy of anticoagulation in most patients, approximately 2% experience a recurrent VTE event while receiving anticoagulant drugs. The proper diagnosis of the recurrent VTE is important and possible only with the knowledge of localization and thrombus burden of the primary VTE event. ...
Source: Hamostaseologie - April 30, 2024 Category: Hematology Authors: Robert Klamroth Hanno Riess Jan Beyer-Westendorf Birgit Linnemann Source Type: research
Bullous Pemphigoid in the Elderly
Bullous pemphigoid is a chronic autoimmune subepidermal blistering skin disease that primarily affects the elderly [1]. Clinically, it presents as urticaria-like and pruritic erythematous lesions that subsequently develop into large tense bullae [1]. These blisters typically have erythematous bases and are often localized to flexural areas, such as the axillae, groin, lower abdomen, and inner thighs. Although Bullous pemphigoid is a rare disease, it has a higher incidence rate in the elderly [2]. (Source: Journal of the American Medical Directors Association)
Source: Journal of the American Medical Directors Association - April 30, 2024 Category: Health Management Authors: Comfort Y. Adewunmi, Monica D. Gavaller Source Type: research
Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans
This study investigated over a hundred cases and identified a novel biallelic variant ofMYO1D (NM_015194: c.1531G>A; p.D511N) in a consanguineous family with complex CHD and laterality defects. Further examination of the proband revealed asthenoteratozoospermia and shortened sperm. Afterward, the effects of the D511N variant and another knownMYO1D variant (NM_015194: c.2293C>T; p.P765S) were assessed. The assessment showed that both enhance the interaction with β-actin and SPAG6. Overall, this study revealed the genetic heterogeneity of this rare disease and found thatMYO1D variants are correlated with laterality de...
Source: Frontiers of Medicine - April 30, 2024 Category: General Medicine Source Type: research
Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study
This cross-sectional controlled study aims to assess health-related quality of life (HRQoL) of children and adolescents with a molecular diagnosis of Marfan syndrome (MFS) or related disorders and to evaluate ... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 30, 2024 Category: Internal Medicine Authors: Thomas Edouard, Marie-Christine Picot, Fernanda Bajanca, Helena Huguet, Aitor Guitarte, Maud Langeois, Bertrand Chesneau, Philippe Khau Van Kien, Eric Garrigue, Yves Dulac and Pascal Amedro Tags: Research Source Type: research
Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
(Source: Journal of Translational Medicine)
Source: Journal of Translational Medicine - April 30, 2024 Category: Research Authors: Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Band Tags: Correction Source Type: research
Prediction of Individual Disease Progression Including Parameter Uncertainty in Rare Neurodegenerative Diseases: The Example of Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS)
AbstractThe aim of this study was to develop a model to predict individual subject disease trajectories including parameter uncertainty and accounting for missing data in rare neurological diseases, showcased by the ultra-rare disease Autosomal-Recessive Spastic Ataxia Charlevoix Saguenay (ARSACS). We modelled the change in SARA (Scale for Assessment and Rating of Ataxia) scoreversus Time Since Onset of symptoms using non-linear mixed effect models for a population of 173 patients with ARSACS included in the prospective real-world multicenter Autosomal Recessive Cerebellar Ataxia (ARCA) registry. We used the Multivariate I...
Source: The AAPS Journal - April 30, 2024 Category: Drugs & Pharmacology Source Type: research
Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy)
Little is known about the social difficulties and health care needs of adult Duchenne muscular dystrophy (DMD) patients in Japan, as well as the financial and physical stress experienced by their caregivers. T... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 30, 2024 Category: Internal Medicine Authors: Madoka Mori-Yoshimura, Keiko Ishigaki, Yuko Shimizu-Motohashi, Naoko Ishihara, Atushi Unuma, Sumiko Yoshida and Harumasa Nakamura Tags: Research Source Type: research
A systematic literature review on the health-related quality of life and economic burden of Fabry disease
Fabry disease (FD) is a rare lysosomal storage disease associated with glycolipid accumulation that impacts multiple physiological systems. We conducted a systematic literature review (SLR) to characterize the... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 30, 2024 Category: Internal Medicine Authors: Ana Jovanovic, Eve Miller-Hodges, Felicia Castriota, Shweta Takyar, Heena Howitt and Olulade Ayodele Tags: Review 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
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
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
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
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
