Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia.

Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency disorder (PID) caused by biallelic mutations occurring in the serine/threonine protein kinase () gene. The major role of nuclear is the coordination of cell signaling pathways in response to DNA double-strand breaks, oxidative stress, and cell cycle checkpoints. Defects in ATM functions lead to A-T syndrome with phenotypic heterogeneity.

Unraveling the role of the vitamin D-VDR pathway in pemphigus vulgaris from Tunisian patients.

Vitamin D dysregulation has been recognized as a factor that may cause or aggravate autoimmunity. Vitamin D deficiency was found to be common in pemphigus vulgaris (PV) in different populations. This study aimed to investigate the vitamin D-VDR pathway in PV in the Tunisian population.

Sleep Habits and Disturbances Among Tunisian Adults: A Cross-Sectional Online Survey.

Background: Sleep quality and disturbances have gained heightened scholarly attention due to their well-established association with both mental and physical health. This study aims to assess sleep-wake habits and disturbances in Tunisian adults.

Methodology: This cross-sectional study employed an online questionnaire to assess 3074 adults ≥ 18 years.

Effect of long-term proton pump inhibitors on phosphocalcium metabolism and bone mineral density.

Although Proton pump inhibitors (PPIs) are well-tolerated, their long-term use may be associated with decreased bone mass. This is a case-control study including patients treated with PPIs (>1 year) and control subjects who have not received PPIs treatment. A total of 90 patients and 90 matched controls were included.

Squamous cell carcinoma and Crohn's disease: a sometimes-challenging diagnosis.

Non-melanoma skin cancers are more common in people with inflammatory bowel disease. However, these tumors can rarely mimic a cutaneous manifestation of the disease, which delays diagnosis and clouds prognosis. A 35-year-old man with stenosing and fistulizing ileocolic Crohn's disease developed squamous cell carcinoma mimicking a groin fold abscess.

Assessment of histology's performance compared with PCR in the diagnosis of infection.

Histology is the most widely used test to detect . PCR is less used but allows the detection of both infection and antibiotics' resistance. We conducted a monocentric cross-sectional study, collecting 97 symptomatic patients to assess the diagnostic performance of histology in the detection of infection compared with PCR.

Bladder metastasis originating from gastric signet-ring cell carcinoma: a case report.

Bladder metastasis of gastric adenocarcinoma is a rare phenomenon. Hereby, we report a case of a 52-year-old patient who presented with upper gastro-intestinal bleeding and ascites and was diagnosed with gastric signet-ring cell carcinoma. A CT scan revealed peritoneal infiltration and anterior parietal thickening of bladder wall.

Cirrhotic cardiomyopathy: a subject that's always topical.

Cirrhosis is the final stage in the development of hepatic fibrosis in chronic liver disease. It is associated with major hemodynamic disturbances defining the hyperdynamic circulation and may be complicated by specific cardiac involvement or cirrhotic cardiomyopathy which is a silent clinical condition that typically remains asymptomatic until the late stages of liver disease. Recently, new criteria defining CC, based on modern concepts and knowledge of heart failure, have been proposed.

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Objectives: Our aims were to assess cognitive impairment in bipolar patients in remission compared with healthy controls, and to study its connection to clinical and therapeutic factors.

Methodology: This was a case-control study of patients with bipolar disorder (BD) in remission and matched healthy controls. It was carried out at the Hédi Chaker University Hospital in Sfax, Tunisia.

Tubular expression of Toll-like receptor 9 in lupus and primary membranous nephropathy.

Introduction: Toll-like- receptors (TLR) control important aspects of innate and adaptive immune responses. Renal cells are among the non-immune cells that express (TLR). Therefore, their activation might be implicated in renal tubulo-interstitial injury.

Ischemic Stroke in Young Tunisian Adults.

Introduction: Ischemic Stroke in young adults is a real public health problem; it's a major cause of disability, alters quality of life and has a great socio-economic impact.

Aim: determine risk factors and specify the etiology of arterial ischemic stroke in young Tunisian adults.

Methods: In this 5 years retrospective study (2015-2020), we included all young adults (18-50 years) admitted for arterial ischemic stroke (AIS).

[Prevalence and predictors of post-traumatic stress disorder in road traffic accidents].

Introduction: trauma-related disorders following a road accident have both a health and an economic impact.

Methods: we conducted a prospective study to determine the prevalence of these disorders, and to identify risk factors in subjects victims of road accidents and hospitalized in the Department of Orthopedic Surgery and Traumatology of the University Hospital Center of Sfax-Tunisia.

Results: a total of sixty-ten subjects were included in this study.

Impact of Society Guidelines on Trends in Use of Newer P2Y Inhibitors for Patients With Acute Coronary Syndromes Undergoing Percutaneous Coronary Intervention.

Background: Over the past decade, major society guidelines have recommended the use of newer P2Y inhibitors over clopidogrel for those undergoing percutaneous coronary intervention for acute coronary syndrome. It is unclear what impact these recommendations had on clinical practice.

Methods And Results: All percutaneous coronary intervention procedures (n=534 210) for acute coronary syndrome in England and Wales (April 1, 2010, to March 31, 2022) were retrospectively analyzed, stratified by choice of preprocedural P2Y inhibitor (clopidogrel, ticagrelor, and prasugrel).

Recurrent intra-cardiac thrombosis: A rare manifestation of Behçet's disease.

Behçet's disease is a systemic vasculitis characterized by recurrent bipolar aphtosis and ophthalmic disorders. Cardiac involvement is rarely reported and could be associated to poor prognosis. Intracardiac thrombosis is exceptional and represents a therapeutic issue.

Unlocking the power of synergy: High-intensity functional training and early time-restricted eating for transformative changes in body composition and cardiometabolic health in inactive women with obesity.

Objective: The purpose of this study was to examine the long-term effects of time-restricted eating (TRE), with or without high intensity functional training (HIFT), on body composition and cardiometabolic biomarkers among inactive women with obesity.

Methods: Sixty-four women (BMI = 35.03 ± 3.

International Consensus Definition and Diagnostic Criteria for Generalized Pustular Psoriasis From the International Psoriasis Council.

Importance: Generalized pustular psoriasis (GPP) lacks internationally accepted definitions and diagnostic criteria, impeding timely diagnosis and treatment and hindering cross-regional clinical and epidemiological study comparisons.

Objective: To develop an international consensus definition and diagnostic criteria for GPP using the modified Delphi method.

Evidence Review: The rarity of GPP presents a challenge in acquiring comprehensive published clinical data necessary for developing standardized definition and criteria.

Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family.

Constitutional Mismatch Repair Deficiency (CMMRD) is a rare childhood cancer predisposition syndrome, caused by biallelic pathogenic germline variants in the mismatch repair genes. Diagnosis and management of this syndrome is challenging, especially in low-resource settings. This study describes a patient diagnosed with colorectal cancer and grade 3 astrocytoma at the age of 11 and 12 respectively.

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5].

Nasopharyngeal Carriage of in Tunisian Healthy under-Five Children during a Three-Year Survey Period (2020 to 2022).

We aimed to assess the prevalence of nasopharyngeal pneumococcal carriage and to determine serotype distribution, antibiotic susceptibility patterns, and evolutionary dynamics of isolates in healthy under-five children. Nasopharyngeal swabs were collected from healthy children over three survey periods between 2020 and 2022. All pneumococcal isolates were serotyped and tested for antimicrobial susceptibility.

Ultrasound Assessment in Children With Suspected Appendicitis: Time to Revise Diagnostic Criteria: A Prospective Cohort Study.

Although ultrasound is considered the gold standard for the evaluation of children with suspected appendicitis, there is still much debate about the most accurate ultrasound findings. The purpose of this study was to define the best ultrasound signs that could ultimately improve the diagnostic accuracy of ultrasound for diagnosing pediatric acute appendicitis, and to differentiate between simple appendicitis and complicated appendicitis. After approval by our Institutional Review Board, a prospective study was carried out from January 1, 2022, to July 31, 2023, in a pediatric emergency department.

National Tunisian Study of Cardiac Implantable Electronic Devices: Design and Protocol for a Nationwide Multicenter Prospective Observational Study.

Background: In Tunisia, the number of cardiac implantable electronic devices (CIEDs) is increasing, owing to the increase in patient life expectancy and expanding indications. Despite their life-saving potential and a significant reduction in population morbidity and mortality, their increased numbers have been associated with the development of multiple early and late complications related to vascular access, pockets, leads, or patient characteristics.

Objective: The study aims to identify the rate, type, and predictors of complications occurring within the first year after CIED implantation.