EMJ 9.2 2024

In this issue

 

Volume 9, Issue 2
Contents
Page numbers Title
10-18 Review of the 12th Edition of the European Conference on Rare Diseases and Orphan Products (ECRD) 2024 EMJ
 

Congress Feature

19-22 How Can We Bridge the Rare Disease Treatment Gap? Darcy Richards
 

Symposium review

23-90 Protecting and Preserving Dystrophic Muscle: The Balance Between Exercise and Contraction-Induced Muscle Injury Vissing et al.
 

Interviews

31-41 Climate Change and Air Pollution: How Healthcare Providers Can Help Mitigate the Risks to Respiratory Health Chung et al.
42-47 Role of Nebulisers in the Treatment of Patients with Severe and Very Severe Chronic Obstructive Pulmonary Disease Omar Usmani
49-55 Enhancing Treatment Success in Osteoporosis: Optimising the Use of Teriparatide Casado and Seefried
56-60 Interview with Smeeta Sinha Smeeta Sinha
61-63 Interview with Nina Gold Nina Gold
 

Infographics

64-65 Infographic: Muscle Matters: Protein Requirements for Muscle Preservation During Ageing EMJ
66-67 Infographic: Importance of Timely and Accurate Diagnosis of Myotonic Disorders: Role of Electromyography EMJ
 

Feature

68-72 Lost in the System: The Labyrinth of Rare Disease Diagnosis Fish
 

Articles

73-83 Genetics and Pathophysiology of Co-occurrence of Congenital Heart Disease and Autism Spectrum Disorder Ong
84-95 Zinc for Wilson’s Disease: What We Know and What We Don’t Know Di Dato
96-103 Fever, Sore Throat, and Abdominal Pain – Connecting the Dots to a ‘Forgotten’ Disease: A Case Report of Atypical Lemierre’s Syndrome Yasmin et al.
104-115 Treatment of Dermatitis Artefacta: A Systematic Review Estill
116-122 Caesarean Hysterectomy for Placenta Accreta Spectrum in a Single Centre: A Series of 19 Cases Bhanumathy
123-132 Nipah Virus in Kerala, India – Unravelling the Local Outbreak and Assessing Global Threats: A Narrative Review Gopika
133-137 Penile Skin Bridge: Uncommon Cause of Painful Spontaneous Erection in Young Males Takure
138-144 Frequency Determination of Central Line Blood Stream Infection at a Renal Care Centre Moin
145-153 Caregiver Burden, Resilience, and Wellbeing in Cases of Severe Cutaneous Adverse Drug Reactions Mukherjee
154-167 Endovascular Stenting for Superior Vena Cava Syndrome – A Systematic Review Anyagwa