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Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis

Phenotype-Genotype Correlation in Morquio A Syndrome: Protocol for a Meta-Analysis

The relationship between GALNS variants and their impact on pathophysiology, severity, and treatment opportunities is a well-studied topic. Several investigations have explored the genotype-phenotype relationship, such as the study by Zanetti et al [7], which included 314 patients with 135 different variants. Of these variants, 103 were associated with a severe phenotype, 19 with a nonsevere phenotype, 2 with an intermediate phenotype, and 11 with conflicting clinical phenotypes.

Lorena Diaz-Ordoñez, Paola Andrea Duque-Cordoba, Daniel Andrés Nieva-Posso, Wilmar Saldarriaga, Juan David Gutierrez-Medina, Harry Pachajoa

JMIR Res Protoc 2024;13:e56649

Periorbital Necrotizing Fasciitis: Case Presentation

Periorbital Necrotizing Fasciitis: Case Presentation

Reference 6: Necrotizing soft tissue infections: a focused review of pathophysiology, diagnosis, operativepathophysiology

Ryan S Huang, Nikhil S Patil, Yasser Khan

Interact J Med Res 2023;12:e52507

Pathophysiologic Basis of Connected Health Systems

Pathophysiologic Basis of Connected Health Systems

In this paper we propose a methodology to engineer connected health systems around patients that is rooted in the pathophysiology of disease. Our intention is to propose a framework that can be used to identify how consumer and health IT can be structured around a patient to optimize for health. This approach provides a tool for innovators to identify pain points and opportunities in constructing ecosystems for health using foundational clinical reasoning.

Yahya Shaikh, Michael Christopher Gibbons

J Med Internet Res 2023;25:e42405

Enamel Renal Syndrome: Protocol for a Scoping Review

Enamel Renal Syndrome: Protocol for a Scoping Review

These findings will be synthesized into a comprehensive summary, focusing on the pathophysiology, genotype-phenotype correlations, and patient management from a dental perspective. The authors also aim to elucidate research gaps to inform future research and provide a useful summary for clinicians treating patients with ERS.

Imaan A Roomaney, Salma Kabbashi, Manogari Chetty

JMIR Res Protoc 2021;10(11):e29702

Application of the Inverted Classroom Model for Teaching Pathophysiology to Chinese Undergraduate Medical Students: Usability Study

Application of the Inverted Classroom Model for Teaching Pathophysiology to Chinese Undergraduate Medical Students: Usability Study

Pathophysiology is an essential basic course in medical education. It involves the study of etiology, pathogenesis, and metabolic and functional changes in disease. Pathophysiology acts as a bridge course connecting basic medicine and clinical medicine courses [17,18]. Pathophysiology teaching outcomes have a nonnegligible effect on the cultivation of medical students’ clinical ability [19].

Hui Lin, Xiaoping Zeng, Jun Zhu, Zhenzhen Hu, Ying Ying, Yonghong Huang, Hongmei Wang

JMIR Med Educ 2021;7(2):e24358

Unpacking Prevalence and Dichotomy in Quick Sequential Organ Failure Assessment and Systemic Inflammatory Response Syndrome Parameters: Observational Data–Driven Approach Backed by Sepsis Pathophysiology

Unpacking Prevalence and Dichotomy in Quick Sequential Organ Failure Assessment and Systemic Inflammatory Response Syndrome Parameters: Observational Data–Driven Approach Backed by Sepsis Pathophysiology

Therefore, numerous endeavors have been made to capture the pathobiology, pathophysiology, and epidemiology of sepsis to explain the syndrome. An initial definition of sepsis (sepsis-1) was introduced at the 1991 Consensus Conference that described sepsis as SIRS [21,40].

Nazmus Sakib, Sheikh Iqbal Ahamed, Rumi Ahmed Khan, Paul M Griffin, Md Munirul Haque

JMIR Med Inform 2020;8(12):e18352