[Not Available].

Introduction: There are three types of primary hyperoxaluria, with type 1 considered the most severe.

Aim: To analyze the clinical, genetic, and evolutionary characteristics of type 1 primary hyperoxaluria with pediatric onset.

Methods: This was a retrospective, descriptive study that included Tunisian children under the age of 18 at the time of diagnosis over a period of 25 years (January 1, 1996, to December 31, 2022).

Genotype-Phenotype correlation of distal renal tubular acidosis in Tunisia.

Introduction: Distal renal tubular acidosis (dRTA) is a rare genetic disorder due to the incapacity of the α intercalated cells to excrete protons in the collecting duct. This impaired distal acidification of urine leads to a chronic hyperchloremic metabolic acidosis with a normal plasma anion gap, hypokalemia, and hypercalciuria with hypocitraturia causing nephrocalcinosis. Primary dRTA is inherited either as an autosomal dominant (SLC1A4 gene) or autosomal recessive trait (ATP6V0A1/ATP6V1B1 genes).

[Not Available].

Helicobacter pylori infection is the most common infectious disease worldwide. It is associated with duodenal and gastric ulcer disease and the risk of gastric neoplasia. The management of helicobacter pylori infection currently represents a real challenge for clinicians, given the ever-increasing rate of resistance of Helicobacter pyolori to various antibiotics.

Anatomy and anatomical variations of adrenal veins and its application to adrenal venous sampling.

Purpose: Our aim was to study the anatomy of the left and right main adrenal veins (LAV and RAV) and to identify their anatomical variations in order to see the practical application of these findings to adrenal venous sampling (AVS).

Methods: Our work is based on dissection of 80 adrenal glands from fresh corpses in the forensic medicine department. We studied the number, the drainage, the direction and the level of termination of the main adrenal veins.

A prospective multicenter randomized study comparing the SpineJack system and nonsurgical management with a brace in acute traumatic vertebral fractures: the SPICO study.

Objective: The objective of this study was to evaluate the efffectiveness of a titanium vertebral augmentation device (SpineJack system) in terms of back pain, radiological outcomes, and economic burden compared with nonsurgical management (NSM) (bracing) for the treatment of vertebral compression fractures. Complications were also evaluated for both treatment methods.

Methods: A prospective multicenter randomized study was performed at 9 French sites.

Recurrent Urolithiasis Revealing Primary Hyperparathyroidism in a Nephrology Department.

Background: Urinary lithiasis constitutes a recurrent pathology affecting a relatively young population. The risk of progression to chronic renal failure and the cost of treatment are the most important issues. Primary hyperparathyroidism (PHPT) is responsible for urolithiasis and nephrocalcinosis in 7% of patients, and it represents the 7th cause of urolithiasis in Tunisia.

Is there a route for metachronous inguinal lymph node in colonic cancer? A case report.

As the inguinal lymph nodes do not serve as the primary route for the lymphatic drainage of the colon, inguinal metastasis from colorectal carcinomas is considered an unusual finding, especially in the 2nd year follow-up. A 76-year-old male patient, operated on for non-metastatic right colic adenocarcinoma, consulted 2 years after for a right inguinal swelling. A biopsy was performed.

Delayed Graft Function in Pediatric Kidney Transplant: Risk Factors and Outcomes.

Objectives: We aimed to identify risk factors and outcomes of delayed graft function in pediatric kidney transplant.

Materials And Methods: This retrospective study included all kidney transplant recipients ≤19 years old followed up in our department for a period of 34 years, from January 1989 to December 2022.

Results: We included 113 kidney transplant recipients.

Prostatic condyloma acuminata: An uncommon endoscopic discovery in an asymptomatic 68-year-old male.

Prostatic condyloma acuminata is a rarely encountered clinical manifestation primarily linked to low-risk subtypes of human papillomavirus (HPV), such as HPV-6 and HPV-11. Unlike the more common anogenital presentation, prostatic condyloma acuminata remains an infrequent phenomenon, necessitating a nuanced approach to diagnosis and management. We present a case report involving a 68-year-old patient with an intricate medical history, where the discovery of prostatic condyloma acuminata presented diagnostic challenges and clinical intricacies.

Evaluation of stress induced by high-fidelity simulation among anesthesiology and emergency residents: impact of oral debriefing versus video assisted.

Aim: To describe the level of stress in emergency medicine and anesthesia residents during high fidelity simulation sessions and to evaluate the effect of video-assisted debriefing versus no-video assisted debriefing on stress level.

Methods: Prospective randomized study.

Inclusion: emergency medicine and anesthesia residents consenting.

Vitamin B12 levels in type 2 diabetic patients on Metformin compared to those never on Metformin: a cross sectional study in Tunisia.

Introduction: Recent studies suggest that long-term use of metformin may decrease the plasma level of Vitamin B12.

Aim: To assess the Vitamin B12 status in Tunisian patients treated with metformin and to study its association with the dose, the duration of metformin use, and the clinical and biological parameters.

Methods: It was a cross-sectional, comparative study on 200 type 2 diabetic (T2D) patients.

Comparing indications, complexity and outcomes of laparoscopic liver resection between centers with and without a liver transplant program: a French nationwide study.

Background: There are no data to evaluate the difference in populations and impact of centers with liver transplant programs in performing laparoscopic liver resection (LLR).

Methods: This was a multicenter study including patients undergoing LLR for benign and malignant tumors at 27 French centers from 1996 to 2018. The main outcomes were postoperative severe morbidity and mortality.

Feasibility of a home-designed respiratory rehabilitation program for chronic obstructive pulmonary disease.

Background: According to international guidelines, respiratory rehabilitation (RR) for patients with chronic obstructive pulmonary disease (COPD) is a cornerstone of standard non-pharmacological treatment.

Aims: To evaluate feasibility of a home-designed RR program and analyze its medium-term impact on respiratory parameters and quality of life.

Methods: This was a prospective study involving 74 COPD patients enrolled in January 2019 and put on inhaled bronchodilator treatment associated with RR at home following a written protocol, for 16 weeks.

Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing.

Inherited mitochondrial diseases are the most common group of metabolic disorders caused by a defect in oxidative phosphorylation. They are characterized by a wide clinical and genetic spectrum and can manifest at any age. In this study, we established novel phenotype-genotype correlations between the clinical and molecular features of a cohort of Tunisian patients with mitochondrial diseases.

Co-expression of Twist and Snai1: predictor of poor prognosis and biomarker of treatment resistance in untreated prostate cancer.

Background: Prostate cancer (PCa) remains one of the most complex tumors in men. The assessment of gene expression is expected to have a profound impact on cancer diagnosis, prognosis, and treatment decisions. The aim of this study was to determine the utility of the epithelial-mesenchymal transition (EMT) transcription factors Twist and Snai1 in the treatment of naïve prostate cancer.

[Not Available].

Introduction: Medical education has progressed considerably. Information and communication technologies have been adopted as a learning tool.

Aim: We aimed to evaluate the contribution of an educational video in the acquisition of knowledge on the measurement of the Schöber index in young medical students.

Misdiagnosis asthma in adult, three rare causes.

Introduction: All that wheezes is not asthma. Although, asthma is the most common cause of wheeze and cough in children and adults, it is often attributed inappropriately to these symptoms from other causes.

Aim: We illustrate through this manuscript three rare causes of wheeze in adults, misdiagnosis as asthma.

Primary focal segmental glomerulosclerosis in children: epidemiology, clinical presentation and prognosis.

Introduction: Focal segmental glomerulosclerosis is a histopathological entity.

Aim: To analyze the epidemiological, clinical and histological profile of primary focal segmental glomerulosclerosis in children, as well as their prognostic factors.

Methods: This was a retrospective cross-sectional study over a period of 20 years (2001-2020), conducted in the Department of Pediatrics at Charles Nicolle Hospital in Tunis, which included children followed for primary focal segmental glomerulosclerosis.

Risk factors for sepsis and mortality in patients with emphysematous pyelonephritis : a series of 68 cases (case series).

Background: Emphysematous pyelonephritis (EPN) is a rare and severe necrotizing infection of the kidney with a high rate of complications and mortality. Our aim was to investigate risk factors of urosepsis and mortality in case of EPN.

Materials And Methods: Between January 2010 and December 2022 the charts of patients diagnosed with EPN were retrospectively reviewed.

Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing.

Elevated rates of consanguinity and inbreeding are responsible for the high prevalence of recessively inherited diseases among inbred populations including Tunisia. In addition, the co-occurrence of two of these conditions, called also comorbidity, within the same individual or in members of the same family are often described in Tunisia which is challenging for diagnosis. The high throughput sequencing has improved the diagnosis of inherited diseases.