[Aspirin and prevention of the recurrence of venous thromboembolism].

After a first episode of unprovoked vein thrombosis, the risk of recurrence persists for many years. Long term of anticoagulant therapy prevents the recurrence of vein thrombosis but is associated with a major risk of bleeding. As platelets play a role in the initiation and propagation of venous thromboembolism as well, antiplatelet agents, may play a role in the treatment and prevention of this disease.

Clinical features and outcomes in patients with human immunodeficiency virus-negative, Castleman's disease: a single medical center study in Tunisia.

Introduction: Castleman's disease (CD), known as angiofollicular lymph node hyperplasia, is an uncommon condition. The two most common histological subtypes are hyaline vascular and plasma cell. We performed a retrospective analysis to define the clinic-pathological features and survival of CD, which is quite rare focusing on the particularities of our series with a review of the recent literature.

About a rare association: Guillain-Barré Syndrome and polymyositis.

Guillain-Barré syndrome (GBS) and polymyositis (PM) are two rare autoimmune diseases, one of which affects the peripheral nervous system and other the muscle. We report the case of a young woman with no previous medical history who was hospitalized with an ascending paralysis associated with acute respiratory failure due to a GBS. The patient was treated with plasmapheresis with unfavorable outcome and permanent proximal muscular disability.

Guillain-Barré Syndrome in a Child With Multisystem Inflammatory Syndrome Related to COVID-19.

Guillain-Barré syndrome has been associated with acute severe acute respiratory syndrome coronavirus 2 infection in children. Here, we report a 4-year-old boy who developed Guillain-Barré syndrome in the course of multisystem inflammatory syndrome related to COVID-19.

Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.

Background: Ocular cystinosis is a rare autosomal recessive disorder characterized by intralysosomal cystine accumulation in renal, ophthalmic (cornea, conjunctiva), and other organ abnormalities. Patients with ocular cystinosis are mostly asymptomatic and typically experience mild photophobia due to cystine crystals in the cornea observed accidently during a routine ocular examination. The ocular cystinosis is associated with different mutations in CTNS gene.

Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.

Background: In the Tunisian population, the molecular analysis of hearing impairment remains based on conventional approaches, which makes the task laborious and enormously expensive. Exploration of the etiology of Hearing Impairment and the early diagnosis of causal mutations by next-generation sequencing help significantly alleviate social and economic problems.

Methods: We elaborated a custom SureSelect panel for next-generation sequencing of the coding sequences of 42 genes involved in isolated hearing impairment or along with defects of the retina, the thyroid, and the kidneys.

Multifocal bone tuberculosis simulating metastasis.

Multiple skeletal tuberculosis can be the first sign of tuberculosis. In such cases, physicians should consider tuberculosis diagnosis and take biopsies for anatomopathological evidence to make the correct diagnosis.

Early screening of cardiotoxicity of chemotherapy by echocardiography and myocardial biomarkers.

Introduction: cardiotoxicity remains the most serious complication of anticancer chemotherapy, especially if it manifests by heart failure. Early detection of myocardial involvement, before alteration of LVEF, would involve the necessary measures to be taken to prevent progression to heart failure.

Aim: Early detection of the cadiotoxicity of anti-cancer chemotherapy, through clinical, echocardiographic and biological parameters.

Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.

Pompe disease, a rare, autosomal, recessive, inherited, lysosomal storage disorder, is caused by mutations in the acid α-glucosidase (GAA) gene leading to a deficiency of the lysosomal GAA enzyme. Some GAA mutations eliminate all enzymatic activities, causing severe infantile Pompe disease; others allow residual GAA activity and lead to middle adulthood forms. Here, we report a cohort of 12 patients, belonging to 11 unrelated families, with infantile Pompe disease.

Clinical and serological profile of systemic sclerosis in Tunisia: A retrospective observational study.

Objective: The Prevalence of systemic sclerosis (SSc) and different clinical subsets varies across the world. Few data have been published on SSc patients in North Africa. Our objective was to describe a SSc cohort in south of Tunisia and to compare clinical findings, disease subsets and antibodies with other international SSc populations.

Disseminated lymphoblastic lymphoma revealed by an isolated third cranial nerve palsy.

Dysfunction of the third cranial nerve can be provoked by a number of different conditions. An isolated cranial neuropathy as a first clinical sign of a non-Hodgkin lymphoma is very infrequent. We represent here an atypical case of lymphoblastic lymphoma revealed by an isolated third cranial nerve palsy.

Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease.

Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening hyperinflammatory condition that may be triggered by infections, autoimmune and immunologic disorders, malignancies, and metabolic diseases. Early and accurate diagnosis of HLH and its underlying cause is of paramount importance for proper management and prognosis. We report the case of a Tunisian 21-month-old girl who initially presented clinical features of HLH related to a lysosomal acid lipase deficiency.

Pulmonary embolism in intensive care units: More frequent or more Known? Prospective study of 75 cases.

Purpose: to evaluate the current rate of pulmonary embolism (PE) in our medico-surgical intensive care unit (ICU), to identify risk factors, and to determine the outcome of PE in ICU.

Methods: We performed a prospective cohort study of consecutive patients requiring intensive care admission during a one-year period. We included, in this prospective study, all the patients with confirmed PE admitted in ICU with more than 18 years of age, and expected to stay in ICU for more than 48 hours.

Hypoparathyroidism in children: a study of eight cases.

Background: Hypoparathyroidism is a rare pediatric endocrine disease, which is caused by low circulating levels of PTH or insensitivity to its action in the target tissues.

Aim: To report the clinical and biochemical characteristics and theoutcome of 8 patients with hypoparathyroidism.

Methods: We analyzed retrospectively the results of clinical, biochemical, radiological findings of patients with hypoparathyroidism diagnosed in pediatric department of Hedi Chaker Hospital during the period 1994-2013.

Clinical characteristics and prognosis of traumatic head injury following road traffic accidents admitted in ICU "analysis of 694 cases".

Background: The aim of the present study is to analyze the clinical and epidemiological characteristics of Traumatic Brain Injury (TBI) following Road Traffic Accidents (RTAs). Moreover, we aim to evaluate the outcome of the TBI victims referred to our medico-surgical Intensive Care Unit (ICU), and to define predictive factors associated with poor prognosis.

Methods: A retrospective study over a 4-year period (2009 to 2012) of 694 patients with head injuries, incurred during road traffic accidents, admitted to the Intensive Care Unit (ICU) of a university hospital (Sfax-Tunisia).

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.

Background: Familial steroid-sensitive nephrotic syndrome (SSNS) is a rare condition. The disease pathophysiology remains elusive. However, bi-allelic mutations in the EMP2 gene were identified, and specific variations in HLA-DQA1 were linked to a high risk of developing the disease.

Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene.

Mitochondrial diseases caused by mitochondrial dysfunction are a clinically and genetically, heterogeneous group of disorders involving multiple organs, particularly tissues with high-energy demand. Hearing loss is a recognized symptom of a number of mitochondrial diseases and can result from neuronal or cochlear dysfunction. The tissue affected in this pathology is most probably the cochlear hair cells, which are essential for hearing function since they are responsible for maintaining the ionic gradients necessary for sound signal transduction.

Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome.

Background And Aims: Allgrove syndrome is characterized by achalasia, alacrima, and adrenal insufficiency as well as being associated with progressive neurological signs. This is an autosomal recessive disorder due to mutations in the AAAS gene located on chromosome 12q13. The AAAS gene encodes a protein of 546 amino acids, ALADIN.

Molecular Diagnostic and Prognostic Subtyping of Gliomas in Tunisian Population.

It has become increasingly evident that morphologically similar gliomas may have distinct clinical phenotypes arising from diverse genetic signatures. To date, glial tumours from the Tunisian population have not been investigated. To address this, we correlated the clinico-pathology with molecular data of 110 gliomas by a combination of HM450K array, MLPA and TMA-IHC.

Assessment of MYCN amplification status in Tunisian neuroblastoma: CISH and MLPA combining approach.

Background: Neuroblastoma (NB) shows a complex combination of genetic aberrations. Some of them represent poor genetic prognosis factors that require specific and intensive chemotherapy. MYCN amplification consists of the major bad outcome prognostic factor, it is indeed frequently observed in aggressive neuroblastomas.

Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012).

Purpose: Primary immunodeficiencies (PIDs) are a large group of diseases characterized by susceptibility to not only recurrent infections but also autoimmune diseases and malignancies. The aim of this study was to describe and analyze the distribution, clinical features and eventual outcome of PID among Tunisian patients.

Methods: We reviewed the record of 710 patients diagnosed with Primary Immunodeficiency Diseases (PIDs) from the registry of the Tunisian Referral Centre for PIDs over a 25-year period.