Lesch Nyhan syndrome: A novel complex mutation in a Tunisian child

Lesch Nyhan syndrome (LNS) is an X-linked recessive disorder due to complete deficiency of the hypoxanthine–guanine phosphoribosyltransferase (HPRT) enzyme. Defect of the enzymatic activity is related to mutations of the HPRT1 gene. The disorder severity is due to neurological features and renal complications. Up to now, more than 300 mutations have been reported. We report on a Tunisian child with a severe phenotype due to a novel identified complex mutation.     

Perceptions regarding antimicrobial use and resistance among adult hospital patients in Saudi Arabian Ministry of Health (MOH) hospitals

BackgroundEducation, a key strategy within antimicrobial stewardship programmes (ASPs), has been mainly directed towards healthcare professionals and prescribers more than hospitalised patients.AimTo examine patients’ knowledge and perceptions of antibiotic use and resistance, while evaluating the institutional role of patient education on antibiotic use in two Saudi Arabian hospitals, one with an implemented ASP and one without an ASP.MethodA cross-sectional self-administered survey was developed and piloted. A total of 400 surveys were distributed, 200 within the hospital with an ASP and another 200 within the hospital without an ASP. Data were coded and analysed. Ethical approval was obtained before the start of the study.Findings176 patients responded to the survey with 150 surveys completed and analysed. 78% of patients agreed that they should only take an antibiotic when prescribed by the doctor, however they still tended to keep left over antibiotics for future use. 84% of patients were unaware ‘antibiotic resistance’, with 48% believing that antibiotics help them get better quicker when they had a ‘cold’. Information on antibiotic use and resistance were provided to patients in the hospital with an ASP in contrast to the hospital without an ASP.ConclusionOverall there are poor perceptions regarding antibiotic use and resistance among hospital patients in Saudi Arabia. Patients in the hospital with ASP demonstrated greater knowledge during their hospitalisation. ASPs should not only focus on educating healthcare professionals but should involve the patients and seize the opportunity to educate them while hospitalised.     

An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation

Autosomal dominant hypophosphatemic rickets (ADHR) is a rare disease, characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D₃ (calcitriol) levels. This syndrome involves rickets with bone deformities in childhood and osteomalacia, osteoporosis, articular and para-articular pain, and fatigue in adulthood. It is caused by mutations in a consensus sequence for proteolytic cleavage of the FGF23 protein. Normally, this protein actively regulates phosphate homeostasis. Here we report a Tunisian family in which one parent and three children show clinical and biological features of ADHR. Mutation analysis of the FGF23 gene finds a heterozygous substitution of the C at position 526 by a T (526 C → T), leading to an amino acid replacement of the FGF23 protein (R176W) at position 176. This causative new mutation is located in the consensus sequence for the proteolytic cleavage domain. These results confirm the importance of this site in FGF23 function and its essential role in ADHR physiopathology.     

Isolated frontal sinus fungus ball: Diagnostic and therapeutic features and the role of endonasal endoscopic approach

Fungus ball (FB) is a non invasive form of fungal sinusitis that generally affects immunocompetent subjects. Isolated involvement of the frontal sinus is extremely rare. The treatment is surgical. Previously, it was based on the external approach. Recently, the endoscopic approach has been increasingly employed.We report three cases of frontal sinus fungus ball. Two patients underwent endoscopic endonasal frontal Draf type IIb sinusotomy with complete removal of the pathologic material. The third patient had an external approach due to the extensive pneumatisation of the frontal sinus, the defect in its floor and the orbital involvement. There were no intraoperative or postoperative complications. No recurrence of the disease was observed during the three, two and twelve months’ follow up period, respectively.Correct clinical and radiological diagnosis of isolated frontal sinus FB still remains a challenge. Endoscopic sinus surgery with endonasal Draf type IIb or type III frontal sinusotomy is effective for the treatment of frontal sinus FB. It is the treatment of choice and replaces the traditional external approaches.     

Effectiveness,safety and drug survival of tumor necrosis factor-α inhibitors in the treatment of spondyloarthritis: A real-life study in Tunisia

Aim of the work

The aim of the present study was to evaluate effectiveness of anti-tumor necrosis factor-α (anti-TNFα) in the treatment of spondyloarthritis (SpA) and to assess their safety and drug survival.

Fibrolipoma of the median nerve

Neural fibrolipoma or fibrolipomatous hamartoma is an uncommon benign tumor that usually arises in the median nerve. Fibrofatty tissue proliferates around the nerve and infiltrates the epineurium and perineurium. We report a case of fibrolipomatous hamartoma of the left median nerve in an 18-year-old woman. Our objective was to describe the pathognomonic magnetic resonance imaging features, whose presence obviates the need for a diagnostic biopsy.