Neonate with Bilateral Vocal Cord Palsy Presenting with Respiratory Distress and Congenital Stridor: A Diagnostic and Therapeutic Challenge DOI Open Access
Sruthi Nair, Medha Goyal, Sonal Sharma

et al.

Newborn, Journal Year: 2024, Volume and Issue: 3(4), P. 301 - 305

Published: Dec. 20, 2024

Language: Английский

Treatments and therapies for symptoms and clinical manifestations of adult type 1 myotonic dystrophy: A scoping review DOI Creative Commons

A. Childs,

Robert D. Henderson,

Daniel James Henderson

et al.

Journal of the Neurological Sciences, Journal Year: 2025, Volume and Issue: 472, P. 123470 - 123470

Published: March 19, 2025

Language: Английский

Citations

0

The role of public health in rare diseases: hemophilia as an example DOI Creative Commons
Amr El-Sayed, Ulrike M. Reiss, Diana Hanna

et al.

Frontiers in Public Health, Journal Year: 2025, Volume and Issue: 13

Published: March 20, 2025

Introduction The role of public health has evolved from addressing infectious diseases to encompass non-communicable diseases. Individuals with genetic disorders and rare constitute a particularly vulnerable population, requiring tailored policies, practical implementation strategies, long-term vision ensure sustainable support. Given the prolonged duration significant costs often associated these conditions, comprehensive, patient-centered, cost-effective approaches are essential safeguard their physical mental well-being. Aims To summarize definitions concepts related health, diseases, highlight integrating interventions into routine care in improving patient outcomes. Hemophilia was selected as an exemplary disease due its lifetime treatment recent approval pricing gene therapy world’s most expensive drug, highlighting critical importance policies ensuring equitable access treatment. Methods A narrative literature review conducted between July 2023 December 2024, searching PubMed, Google Scholar, for various topics hemophilia. Results Public can play important outcomes people by implementing conceptual applied models accomplish set objectives. Over past two decades, legislative regulatory support high income countries (HICs) facilitated development diagnostics treatments several leading advancements. In contrast, many low- middle-income (LMICs) face obstacles enacting legislation, developing regulations, diagnosis More investment innovation drug discovery market pathways still needed both LMICs HICs. Ensuring translation measures, turn implementing, regularly evaluating measures assess effectiveness is crucial. case hemophilia, pivotal role. Conclusion Enhancing surveillance, hemophilia other bridge data gaps, treatment, promote evidence-based care, improve across socioeconomic spectrum.

Language: Английский

Citations

0

Integrating Digital Health Innovations to Achieve Universal Health Coverage: Promoting Health Outcomes and Quality Through Global Public Health Equity DOI Open Access
Mohamed Mustaf Ahmed, Olalekan John Okesanya, Noah Olabode Olaleke

et al.

Healthcare, Journal Year: 2025, Volume and Issue: 13(9), P. 1060 - 1060

Published: May 5, 2025

Digital health innovations are reshaping global healthcare systems by enhancing access, efficiency, and quality of care. Technologies such as artificial intelligence, telemedicine, mobile applications, big data analytics have been widely applied to support disease surveillance, enable remote care, improve clinical decision making. This review critically identifies persistent implementation challenges that hinder the equitable adoption digital solutions, divide, limited infrastructure, weak governance, particularly in low- middle-income countries (LMICs). It aims propose strategic pathways for integrating strengthen universal coverage (UHC) bridge disparities region. By analyzing best practices emerging innovations, this study contributes ongoing dialogue on leveraging inclusive, scalable, sustainable delivery underserved regions.

Language: Английский

Citations

0

Dento‐Craniofacial Features of Tricho‐Dento‐Osseous Syndrome: A Systematic Review and Meta‐Analysis DOI
Victor Zanetti Drumond, José Alcides Almeida de Arruda, Bruno Augusto Benevenuto de Andrade

et al.

Special Care in Dentistry, Journal Year: 2025, Volume and Issue: 45(3)

Published: May 1, 2025

ABSTRACT Aims Tricho‐dento‐osseous syndrome (TDOS), a rare autosomal dominant condition caused by mutations in DLX3 , is characterized abnormalities teeth, bone, and hair. This systematic review meta‐analysis summarized the most frequently reported dento‐craniofacial features of TDOS. Methods Searches were undertaken five databases supplemented manual scrutiny gray literature search. Observational descriptive studies included. Risk bias was appraised using Joanna Briggs Institute tools. Meta‐analyses continuous, binary, proportion data performed, with results as odds ratio (OR) 95% confidence intervals (CI). Results Twenty‐seven describing 297 individuals TDOS Most demonstrated low risk bias. Taurodontism (70.5%), enamel hypoplasia (34.5%), dental infections (28.7%) prevalent findings. Increased bone density/thickness (43.8%) primary skeletal manifestation, sparse hair (27.2%) common abnormality. revealed high for taurodontism (OR = 42.71; CI 7.45–244.75) consistent prevalence estimates (73%; 0.52–0.97) (71%; 0.52–0.97). Conclusion Data confirm that predominantly affects dental, skeletal, structures, highlighting need early diagnosis, multidisciplinary care, tailored treatment approaches.

Language: Английский

Citations

0

Case reports in the past, present and future DOI Creative Commons

Jon Kellett

European Journal of Case Reports in Internal Medicine, Journal Year: 2024, Volume and Issue: unknown

Published: Oct. 16, 2024

Language: Английский

Citations

0

A Framework for Case Simulation Surveys: Advancing Clinical Diagnosis Decision-Making DOI Creative Commons

Jared Lim,

Michael Zhao

High Yield Medical Reviews, Journal Year: 2024, Volume and Issue: 2(2)

Published: Dec. 4, 2024

Introduction: Case simulation surveys enhance diagnostic criteria. This review presents an approach to developing such surveys, highlighting the need for standardized methods in studying rare and complex pathologies improve patient outcomes. Methods: An in-depth literature was conducted using PubMed with search terms: "Decision Analysis," "Forced-Choice," "Classification Criteria". These terms were chosen cover a broad range of relevant on decision-making frameworks criteria development. Studies systemic sclerosis lupus erythematosus selected illustrate conditions which case are effective. The methodology includes: 1) Reviewing identify clinical characteristics; 2) Designing representative base case; 3) Developing variations; 4) Piloting survey experts; 5) Analyzing results statistically. Results: effectively applied studies erythematosus. From these examples, we identified key elements best practices that contributed more approach. included designing case, systematically variations, piloting expert audiences. iterative process addressed challenges as specificity oversight presentations, resulting reliable methodology. paper discusses advancements, demonstrating how enhances consistency applicability research. Conclusion: Systematically developed powerful tools improving techniques classification They enable researchers study controlled environments, significantly contributing refining treatment protocols.

Language: Английский

Citations

0

Neonate with Bilateral Vocal Cord Palsy Presenting with Respiratory Distress and Congenital Stridor: A Diagnostic and Therapeutic Challenge DOI Open Access
Sruthi Nair, Medha Goyal, Sonal Sharma

et al.

Newborn, Journal Year: 2024, Volume and Issue: 3(4), P. 301 - 305

Published: Dec. 20, 2024

Language: Английский

Citations

0