[VENOUS THROMBO-EMBOLISM IN BURNS: INCIDENCE AND RISK FACTORS].

Venous thromboembolic disease (VTE) in burn patients is an under-diagnosed and potentially serious complication. Its incidence varies according to studies performed. This retrospective and descriptive study conducted in an intensive burn care department in Tunisia over a period of 22 months (January 1, 2021 to October 30, 2022) included 24 patients who presented a thromboembolic complication among a total of 785 admissions (incidence of 3%): pulmonary embolism in 15 cases and deep venous thrombosis (DVT) in 9 cases.

[DISTRIBUTION OF CARBAPENEMASES IN TUNISIAN BURN PATIENTS].

Resistance to carpabenems in burns is rapidly spreading in many countries. Therefore identification of carbapenemase pathogen carriers is imperative in order to establish adequate infection control precautions and stop outbreaks of these multidrug-resistant bacteria. The aim of our study was to evaluate the distribution of carbapenemase producers in burn patients admitted to a burn center in Tunisia over 9 months.

PIK3CA mutations in breast cancer: A Tunisian series.

Background: The aim of this study was to analyze PIK3CA mutations in exons 9 and 20 in breast cancers (BCs) and their association with clinicopathological characteristics.

Methods: Mutational analysis of PIK3CA exon 9 and 20 was performed by Sanger sequencing in 54 primary BCs of Tunisian women. The associations of PIK3CA mutations with clinicopathological characteristics were analyzed.

SARS-CoV-2-Associated Guillain-Barre Syndrome is Common but Under- recognised and Under- reported.

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Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome.

Escobar syndrome is a rare, autosomal recessive disorder that affects the musculoskeletal system and the skin. Mutations in the and genes are associated with this pathology. In this study, we conducted a clinical and genetic investigation of five patients and also explored via in silico and gene expression analysis their phenotypic variability.

Ischemic and Metabolic Stroke Can Co-occur in m.3243A>G Carriers: A Case Report.

Stroke-like episodes (SLEs) and their morphological equivalent, stroke-like lesions (SLLs), also termed metabolic stroke, are the hallmark of MELAS. Despite increasing knowledge of the properties of SLEs/SLLs, they are often misinterpreted as ischemic stroke, particularly if both ischemic and metabolic stroke occur in the same patient. The patient is a 56 years-old male with MELAS due to the mtDNA variant m.

Fatigue and Exercise Intolerance as Initial Manifestations of a Nonsyndromic Mitochondrial Disorder Due to the Variant m.3243A>G.

Objectives: Fatigue and exercise intolerance have been only rarely reported as initial- and sole-onset manifestations of a mitochondrial disorder (MID). We present a patient with nonsyndromic MID with fatigue and exercise intolerance as its initial manifestations of the disease. .

Post-SARS-CoV-2 vaccination venous sinus thrombosis: a literature review of 308 cases.

There is accumulating evidence that SARS-CoV-2 vaccinations can be complicated by venous sinus thrombosis (VST). This review aimed at summarising and discussing previous and recent advances regarding the diagnosis, pathogenesis, treatment, and outcome of post-SARS-CoV-2 vaccination VST. At least 308 patients with post-SARS-CoV-2 vaccination VST have been reported as per the end of July 2021.

Identification and Characterization of a Novel Recurrent Variant in Patients with a Severe Form of Cockayne Syndrome B.

Cockayne syndrome (CS) is a rare disease caused by mutations in / or /. We report here the clinical, genetic, and functional analyses of three unrelated patients mutated in / with a severe phenotype. After clinical examination, two patients were investigated via next generation sequencing, targeting seventeen Nucleotide Excision Repair (NER) genes.

Dilated Cardiomyopathy due to the Novel Missense Mutation m.14757T>C.

Mitochondrial DNA (mtDNA) mutations frequently manifest with multisystem disease, including cardiomyopathy (CM). Various studies described mutations in protein-encoding mtDNA genes, such as cytochrome-b, manifesting with CM. A detailed clinical, biochemical, and molecular genetic analysis was performed in a 40-year-old male with dilated CM (DCM) to detect the underlying mtDNA defect.