Project SATURN – a real-world evidence data collaboration with existing European datasets in Osteogenesis Imperfecta to support future therapies
Regulatory marketing authorisation is not enough to ensure patient access to new medicinal products. Health Technology Assessment bodies may require data on effectiveness, relative effectiveness, and cost-effe... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 2, 2024 Category: Internal Medicine Authors: L. Sangiorgi, M. Boarini, I. Westerheim, R. T. Skarberg, J. Clancy, V. Wang and M. Mordenti Tags: Position statement Source Type: research
An algorithm to identify patients aged 0 –3 with rare genetic disorders
With over 7000 Mendelian disorders, identifying children with a specific rare genetic disorder diagnosis through structured electronic medical record data is challenging given incompleteness of records, inaccu... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 2, 2024 Category: Internal Medicine Authors: Bryn D. Webb, Lisa Y. Lau, Despina Tsevdos, Ryan A. Shewcraft, David Corrigan, Lisong Shi, Seungwoo Lee, Jonathan Tyler, Shilong Li, Zichen Wang, Gustavo Stolovitzky, Lisa Edelmann, Rong Chen, Eric E. Schadt and Li Li Tags: Research Source Type: research
Clinical characteristics, radiological features and outcomes in pulmonary involvement of cryoglobulinemia
Cryoglobulinemia with pulmonary involvement is rare, and its characteristics, radiological findings, and outcomes are still poorly understood. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - May 2, 2024 Category: Internal Medicine Authors: Hong-xiao Han, Wei Su, Xinlun Tian, Dao-bin Zhou, Jian Li and Xin-xin Cao Tags: Research Source Type: research
Degos disease: A rare disease with a fatal outcome
Med Clin (Barc). 2024 Apr 30:S0025-7753(24)00195-7. doi: 10.1016/j.medcli.2024.01.047. Online ahead of print.NO ABSTRACTPMID:38692989 | DOI:10.1016/j.medcli.2024.01.047 (Source: Medicina Clinica)
Source: Medicina Clinica - May 1, 2024 Category: General Medicine Authors: Joaqu ín Valle Alonso Samuel McKeown Esther Montoro Source Type: research
“Pop-up” studies: Observational studies in Huntington disease conducted at annual family convention
Background: Huntington ’s disease (HD) is a rare trinucleotide repeat disorder caused by mutation in Huntingtin gene. Availability of biomarkers that track disease progression is of crucial value. Rare disease patient advocacy organizations host annual conventions attended by large number of motivated and engaged famili es creating research opportunities. CHDI, a nonprofit organization dedicated to HD research, conducted “pop-up” observational studies, akin to pop-up stores that open suddenly and exist for short duration, at an annual lay organization convention in 2022 and 2023. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - May 1, 2024 Category: Neurology Authors: S. Sathe, K. Johnson, C. Sampaio, Pop-up Study Team Source Type: research
Psychomotor delay: Expanding the neurological phenotype of ATP13A2-related disorders
Background: Biallelic variants in ATP13A2 were first described as causing the Kufor-Rakeb syndrome (PARK9), a rare disease in children of consanguineous parents, characterized by juvenile-onset Parkinsonism with dementia, pallidopyramidal degeneration and supranuclear ophthalmoplegia. The phenotype expanded since then, to include early-onset hereditary spastic paraparesis, dystonia, ataxia, and peripheral neuropathy. We now describe a presentation with psychomotor delay. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - May 1, 2024 Category: Neurology Authors: L. Silva, A. Sardoeira, E. Brand ão, M. Rocha, S. Pina, S. Cavaco, R. Felgueiras, I. Alonso, J. Barros, J. Sequeiros, H. Costa, J. Leal Loureiro, J. Damásio Source Type: research
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe
by Anna Fernandez-Falgueras, Monica Coll, Anna Iglesias, Coloma Tiron, Oscar Campuzano, Ramon Brugada
Inherited cardiovascular diseases are rare diseases that are difficult to diagnose by non-expert professionals. Genetic analyses play a key role in the diagnosis of these diseases, in which the identification of a pathogenic genetic variant is often a diagnostic criterion. Therefore, genetic varia nt classification and routine reinterpretation as data become available represent one of the main challenges associated with genetic analyses. Using the genetic variants identified in an inherited cardiovascular diseases unit du...
Source: PLoS One - May 1, 2024 Category: Biomedical Science Authors: Anna Fernandez-Falgueras Source Type: research
Paget Disease of Bone Harboring Bone Metastatic Neuroendocrine Cancer: A Case Report
In conclusion, low back pain in the elderly may require deep investigation to individuate rare diseases. In asymptomatic patients with apparently stable PDB, the sudden appearance of pain or neurologic symptoms may alert the clinician for the possibility of other superimposing diseases, like bone metastases. (Source: Calcified Tissue International)
Source: Calcified Tissue International - May 1, 2024 Category: Orthopaedics Source Type: research
Hemophilic pseudotumor of the knee joint: Emphasizing prevention and early diagnosis in a rare disease
Key Clinical MessageHemophilic pseudotumors are rare complications occurring in individuals with severe hemophilia, characterized by progressive cystic swellings in muscles and/or bones due to recurrent bleeding. Timely initiation of factor VIII replacement is crucial.AbstractHemophilic pseudotumors are rare complications occurring in individuals with severe hemophilia, characterized by progressive cystic swellings in muscles and/or bones due to recurrent bleeding. Although their incidence has decreased with the advent of factor VIII replacement therapy, they still create challenges, particularly in regions with limited ac...
Source: Clinical Case Reports - April 30, 2024 Category: General Medicine Authors: Shritik Devkota,
Sugat Adhikari,
Samiksha Lamichhane,
Dipendra Adhikari,
Bhola Bika,
Shayeri Roy Choudhary,
Tajinder Bhalla Tags: CASE REPORT Source Type: research
Clinical characteristics and outcomes of acute liver failure in neonates: a retrospective cohort in China
Conclusion: Hypoxic/ischemic injury and infection are the predominant etiologies of NALF in China. The overall prognosis of NALF is poor, but its short-term prognosis is determined by the etiology. What is Known: • Neonatal acute liver failure (NALF) is a rare disorder with limited cohort studies, especially in China. • Gestational alloimmune liver disease, viral infections (especially herpes simplex virus), metabolic diseases and ischemic insults are common etiologies of NALF, which are significantly different from other populations. • There are no reliable biochemical markers to predict the outcome of NALF. What is...
Source: Herpes - April 30, 2024 Category: Infectious Diseases Authors: Suhua Xu Peng Zhang Mengmeng Ge Yuanyuan Shan Guoqiang Cheng 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
Clinical characteristics and outcomes of acute liver failure in neonates: a retrospective cohort in China
Conclusion: Hypoxic/ischemic injury and infection are the predominant etiologies of NALF in China. The overall prognosis of NALF is poor, but its short-term prognosis is determined by the etiology. What is Known: • Neonatal acute liver failure (NALF) is a rare disorder with limited cohort studies, especially in China. • Gestational alloimmune liver disease, viral infections (especially herpes simplex virus), metabolic diseases and ischemic insults are common etiologies of NALF, which are significantly different from other populations. • There are no reliable biochemical markers to predict the outcome of NALF. What is...
Source: Herpes - April 30, 2024 Category: Infectious Diseases Authors: Suhua Xu Peng Zhang Mengmeng Ge Yuanyuan Shan Guoqiang Cheng 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
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
