Outcomes and complications of percutaneous nephrolithotomy as primary versus secondary procedure for kidney stones: a prospective cohort study.

Introduction: Currently, percutaneous nephrolithotomy (PCNL) is the gold standard of treatment for large renal stones. The high prevalence of urolithiasis is associated with a high recurrence rate increasing the risk of re-intervention. This study aimed to compare the effectiveness and complications of PCNL among patients with previous therapeutic interventions for renal stones.

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.

Granulomatosis with polyangiitis and neurofibromatosis type 1: a fortuitous association? (a case report).

Neurofibromatosis type 1 is a common neurocutaneous syndrome, caused by an alteration of the NF-1 gene, which is a tumor suppressor. It has been reported to be associated with different types of benign and malignant tumors but its association to systemic diseases is uncommon and has not been reported previously to be associated with vasculitis particularly granulomatosis with polyangiitis (GPA). We report a case of a 17-year-old male patient, who, during his follow-up for neurofibromatosis type 1, in our outpatient consultation; we objectified hypereosinophilia at 1700 eosinophils/μl without a history of asthma or atopy.

High grade transformation of adenoid cystic carcinoma in the palate: Case report with review of literature.

Introduction: Adenoid cystic carcinoma (ACC) is a rare tumor developed in minor salivary glands, the palate being the most common site.

Case Presentation: Here, we report a case of a 58-year-old man with a 3-year-growing swelling in the right palate diagnosed with high grade transformation adenoid cystic carcinoma. The exam revealed a 4 cm large mass.

Primary Hyperparathyroidism and Hyperthyroidism in a Patient with Myotonic Dystrophy: A Case Report and Review of the Literature.

Various endocrine manifestations are commonly described in myotonic dystrophy (MD), including primary hypogonadism, diabetes mellitus, and thyroid and parathyroid dysfunction. We describe a 46-year-old woman with a family history of MD with her son. She was diagnosed with cardiac arrhythmia and required the implantation of a pacemaker.

Facial cellulitis revealing choreo-acanthocytosis: a case report.

We report a 62 year-old-man with facial cellulitis revealing choreo-acanthocytosis (ChAc). He showed chorea that started 20 years ago. The orofacial dyskinisia with tongue and cheek biting resulted in facial cellulitis.

Cerebral Aneurysms: A Rare Feature of Behçet's Disease-A Case Report and Review of the Literature.

Behçet's disease (BD) is a multisystem vascular inflammatory disease with several clinical manifestations. Intracranial aneurysms are an extremely rare but nevertheless severe complication of BD. We report a case of a 44-year-old man.