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
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
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
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
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
Klippel –Feil syndrome: Should additional examination be conducted?
ConclusionKlippel –Feil prevalence is 0.309%, it is frequently observed in women, and at C2–C3 level. Additional anomalies are especially associated with ‘contiguous fused segments’ and ‘upper level’ types. Klippel–Feil with scoliosis is an indicator of increased risk for associated anomalies, and exami nation of the whole spine is recommended. (Source: European Spine Journal)
Source: European Spine Journal - April 27, 2024 Category: Orthopaedics Source Type: research
Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center
Rare syndromes of lipodystrophy and insulin-resistance display heterogeneous clinical expressions. Their early recognition, diagnosis and management are required to avoid long-term complications. (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 27, 2024 Category: Internal Medicine Authors: Bruno Donadille, Sonja Janmaat, H éléna Mosbah, Inès Belalem, Sophie Lamothe, Mariana Nedelcu, Anne-Sophie Jannot, Sophie Christin-Maitre, Bruno Fève, Camille Vatier and Corinne Vigouroux Tags: Research Source Type: research
‘BLUES’ procedure for assessing the blue level of the sclera in Osteogenesis Imperfecta
Blue sclera is a characteristic and common clinical sign of Osteogenesis Imperfecta (OI). However, there is currently no widely accepted, objective method for assessing and grading blue sclera in individuals w... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 27, 2024 Category: Internal Medicine Authors: Valerio Di Martino, Fabiana Mallone, Alessandro Lambiase, Mauro Celli, Alice Mannocci, Luca Celli, Pietro Mangiantini, Pasquale Fino and Antonietta Moramarco Tags: Research Source Type: research
A case of pulmonary melioidosis in Germany: a rare differential diagnosis in returning travelers from South-East Asia
ConclusionThis case report emphasizes that melioidosis is an important differential diagnosis in patients with suspected pulmonary tuberculosis and recent travel to South-East Asia. (Source: Infection)
Source: Infection - April 26, 2024 Category: Infectious Diseases Source Type: research
Recent advances in the discovery and development of drugs targeting the kallikrein-kinin system
The kallikrein-kinin system is a key regulatory cascade involved in blood pressure maintenance, hemostasis, inflammation and renal function. Currently, approved drugs remain limited to the rare disease heredit... (Source: Journal of Translational Medicine)
Source: Journal of Translational Medicine - April 26, 2024 Category: Research Authors: Petra Wisniewski, Tanja Gangnus and Bjoern B. Burckhardt Tags: Review Source Type: research
A case of pulmonary melioidosis in Germany: a rare differential diagnosis in returning travelers from South-East Asia
ConclusionThis case report emphasizes that melioidosis is an important differential diagnosis in patients with suspected pulmonary tuberculosis and recent travel to South-East Asia. (Source: Infection)
Source: Infection - April 26, 2024 Category: Infectious Diseases Source Type: research
Clinical manifestation, epidemiology, genetic basis, potential molecular targets, and current treatment of polycystic liver disease
Polycystic liver disease (PLD) is a rare condition observed in three genetic diseases, including autosomal dominant polycystic liver disease (ADPLD), autosomal dominant polycystic kidney disease (ADPKD), and a... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - April 26, 2024 Category: Internal Medicine Authors: Amir Ali Mahboobipour, Moein Ala, Javad Safdari Lord and Arash Yaghoobi Tags: Review Source Type: research
Case report: Shingles-associated probable Bickerstaff brainstem encephalitis with IgM anti-sulfatide positivity
CONCLUSIONS: We emphasize the importance of a careful medical history and assessment of clinical symptoms, performing MRI, testing autoimmune antibodies for rapid diagnosis, and ruling out differential diagnoses. Further studies involving more patients with BBE with IgM anti-sulfatide autoantibodies will increase the understanding of the clinical characteristics and advance the diagnosis and treatment of this syndrome. Meanwhile, it is crucial for dermatologists to know about this severe neurological complication following shingles.PMID:38660303 | PMC:PMC11041370 | DOI:10.3389/fimmu.2024.1358886 (Source: Herpes)
Source: Herpes - April 25, 2024 Category: Infectious Diseases Authors: Xiaoxue Fu Qianli Zhan Linjie Zhang Xiaoyan Tian Source Type: research
Case report: Shingles-associated probable Bickerstaff brainstem encephalitis with IgM anti-sulfatide positivity
CONCLUSIONS: We emphasize the importance of a careful medical history and assessment of clinical symptoms, performing MRI, testing autoimmune antibodies for rapid diagnosis, and ruling out differential diagnoses. Further studies involving more patients with BBE with IgM anti-sulfatide autoantibodies will increase the understanding of the clinical characteristics and advance the diagnosis and treatment of this syndrome. Meanwhile, it is crucial for dermatologists to know about this severe neurological complication following shingles.PMID:38660303 | PMC:PMC11041370 | DOI:10.3389/fimmu.2024.1358886 (Source: Herpes)
Source: Herpes - April 25, 2024 Category: Infectious Diseases Authors: Xiaoxue Fu Qianli Zhan Linjie Zhang Xiaoyan Tian Source Type: research
Development and characterization of a first-in-class adjustable-dose gene therapy system
CONCLUSION: We report the development of a novel, low-cost therapeutic platform, designed to enable the replacement of subcutaneously administered protein treatments with a single-injection, adjustable-dose gene therapy.PMID:38663689 | DOI:10.1016/j.gene.2024.148500 (Source: Gene)
Source: Gene - April 25, 2024 Category: Genetics & Stem Cells Authors: Alex Goraltchouk Jared Lourie Judith M Hollander H Grace Rosen Atsutaro A Fujishiro Francesco Luppino Kai Zou Alexey Seregin Source Type: research
