A 54-years-old patient coming from Guinea, who presented fever, diarrhoea, consciousness disorders and severe haemolytic anaemia, was admitted to resuscitation unit in France. Despite many explorations carried out (evaluation of traumatic causes, infection, neoplasia, vascular, toxic causes, vitamin deficiency), it was not possible to explain neurological symptomatology. Besides, haemolytic anaemia was due to the ingestion of metamizole in a context of glucose-6-phosphate dehydrogenase deficit. This drug's marketing has been suspended in France since 2006. Despite appropriate treatment, after seven days of hospitalization, the patient died of multi-organ failure and hemophagocytic syndrome. This clinical case illustrates the difficulties encountered to set a diagnosis and manage patients coming from overseas. Uncommon aetiologies for French healthcare professionals should be evoked in the absence of comprehensive clinical information.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.patbio.2008.01.003 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.
Int J Mol Sci
January 2025
Molecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology & Genetics, Nicosia 2371, Cyprus.
Non-invasive prenatal testing (NIPT) has been widely adopted for the screening of chromosomal abnormalities; however, its adoption for monogenic disorders, such as β-thalassaemia, has proven challenging. Haemoglobinopathies are the most common monogenic disorders globally, with β-thalassaemia being particularly prevalent in Cyprus. This study introduces a non-invasive prenatal haplotyping (NIPH) assay for β-thalassaemia, utilizing cell-free DNA (cfDNA) from maternal plasma.
View Article and Find Full Text PDFComparison of Asymptomatic Brain Lesions Between Thalassemia Major and Sickle Cell Anemia Patients.
Medicina (Kaunas)
January 2025
Department of Thalassemia Unit, Hatay Education and Research Hospital, Hatay 31027, Turkey.
This study aimed to identify asymptomatic brain lesions in patients with β-thalassemia major (TM) and sickle cell anemia (SCA) and evaluate the correlation of these lesions with factors such as splenectomy, thrombocytosis, and blood transfusions. A total of 26 patients with thalassemia major and 23 patients with sickle cell anemia were included. Ischemic lesions were categorized as lacunar, small vessel, or multifocal.
View Article and Find Full Text PDFSickle Cell Disease in the Islands of Zanzibar: Patients' Characteristics, Management, and Clinical Outcomes.
Genes (Basel)
January 2025
Mnazi Mmoja Hospital (MMH), Kaunda Road, Vuga Street, Zanzibar 71102, Tanzania.
Background: This study aimed to describe Sickle Cell Disease (SCD) phenotypes, sociodemographic characteristics, healthcare, and clinical outcomes of patients with SCD attending Mnazi Mmoja Hospital (MMH) in Zanzibar.
Methods: Individuals who visited MMH between September 2021 and December 2022 and were known or suspected to have SCD were enrolled in the clinic. Sociodemographic characteristics and clinical features were documented, and laboratory tests were performed.
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.
Genes (Basel)
December 2024
Laboratory of Medical Genetics, Clinical Pathology UOC, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Unlabelled: Thalassemias and hemoglobinopathies are among the most common genetic diseases worldwide and have a significant impact on public health. The decreasing cost of next-generation sequencing (NGS) has quickly enabled the development of new assays that allow for the simultaneous analysis of small nucleotide variants (SNVs) and copy number variants (CNVs) as deletions/duplications of α- and β-globin genes.
Background/objectives: This study highlighted the efficacy and rapid identification of all types of mutations in the α- and β-globin genes, including silent variants, using the Devyser Thalassemia NGS kit.
WHOQOL-BREF in Measuring Quality of Life Among Sickle Cell Disease Patients with Leg Ulcers.
Int J Environ Res Public Health
January 2025
Laboratório de Patologia Aplicada e Genética, Departamento de Ciências Biológicas, Universidade Estadual de Santa Cruz, Ilhéus 45662-900, BA, Brazil.
Sickle cell disease (SCD) presents complex clinical manifestations influenced by genetic, social, environmental, and healthcare access factors as well as socioeconomic status. In this context, sickle cell leg ulcers (SLUs) are a debilitating complication of SCD. We aimed to describe sociodemographic data and evaluate the quality of life (QoL) of SCD patients with and without SLUs.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!