International Journal of Hematology-Oncology and Stem Cell Research, 2012 While thalassemia major (TM) used to be a prevalent genetic disease in the past, however, Phenylketonuria (PKU) is quite rare in spite of consanquiness marriage rate of about 40% in the region. Preventive efforts for TM started >20 years ago but neonatal
Hossein Karami +5 more
doaj
Journal of Clinical Laboratory Analysis, EarlyView.Hemolysis increased visual appearance, plasma absorbance, and hemolysis index but did not affect the commutability of HbA1C across CE, CE‐HPLC, and TI. In contrast, BA‐HPLC results may be influenced when HbA1C exceeds 6.23% NGSP, highlighting the limitations of using frozen pooled blood (FPB) in external quality assessment.
Kanokwan Ngueanchanthong +4 more
wiley +1 more source
Appraisal of patient-reported outcome measures in analogous diseases and recommendations for use in phase II and III clinical trials of pyruvate kinase deficiency [PDF]
, 2018 Purpose: Pyruvate kinase deficiency (PKD) is a rare disease and understanding of its epidemiology and associated burden remains limited. With no current curative therapy, clinical manifestations can be life threatening, clinically managed by maintaining ...
Ionova, Tatyana +3 more
core +2 more sources
The Role of Viral and Bacterial Infections in the Etiology of Behçet's Disease
Journal of Clinical Laboratory Analysis, EarlyView.Bacterial and viral pathogens may play a key role in Behçet's disease (BD) pathogenesis by triggering autoimmunity, molecular mimicry, or microbiome disruption. These infectious agents could initiate inflammatory pathways, contributing to BD's diverse clinical manifestations.
Mohsen Moghoofei +4 more
wiley +1 more source
Impact of pre‐examination video education in Gd‐EOB‐DTPA‐enhanced liver MRI: A comparative study
Journal of Medical Radiation Sciences, Volume 72, Issue 1, Page 34-41, March 2025.This study evaluates the effects of pre‐examination video education on patient anxiety, satisfaction and image quality in Gd‐EOB‐DTPA‐enhanced liver MRI. We found that video education significantly reduced anxiety, increased patient satisfaction and improved image quality compared to standard pre‐MRI guidance, highlighting the potential of video ...
Hongfang Huang +3 more
wiley +1 more source
Expression of γ-globin genes in β-thalassemia patients treated with sirolimus: results from a pilot clinical trial (Sirthalaclin) [PDF]
, 2022 Cristina Zuccato +17 more
openalex +1 more source
Molecular characterization of thalassemia and hemoglobinopathy in Southeastern China
Scientific Reports, 2019 Thalassemia and hemoglobinopathy are two common inherited disorders, which are highly prevalent in southern China. However, there is little knowledge on the genotypes of thalassemia and hemoglobinopathy in Southeastern China.
Hailong Huang +9 more
semanticscholar +1 more source
Dupilumab Treatment in Pemphigus: A Report of Three Cases and Literature Review
JEADV Clinical Practice, EarlyView.ABSTRACT Pemphigus vulgaris (PV) and foliaceus (PF) are rare autoimmune blistering diseases traditionally treated with systemic corticosteroids, immunosuppressants, intravenous immunoglobulins, and rituximab. Nonetheless, a subset of patients remains refractory or has contraindications to these conventional therapies.
José Javier Mateos Rico +5 more
wiley +1 more source
Genetic Disease Burden, Nutrition and Determinants of Tribal Health Care in Chhattisgarh State of Central-East India: A Status Paper [PDF]
, 2011 Tribal health is an important aspect of development and progress of the people. This study pertaining to genetic disease burden, nutritional status and biomedical anthropological assessment with particular reference to determinants of tribal health care ...
Balgir, RS
core +1 more source
Hearing Loss in Beta-Thalassemia: Systematic Review [PDF]
, 2021 Immacolata Tartaglione +6 more
openalex +1 more source