First description of the MEGDEHL syndrome in the Tunisian population via whole-exome sequencing: Novel nonsense mutation in SERAC1 gene.

Introduction: MEGDEL syndrome is a rare recessive disorder, with about 100 cases reported worldwide, which is defined by 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E) and Leigh-like syndrome (L). When these manifestations were added to hepatopathy (H), the syndrome was labelled as MEGD(H)EL. Mutations in SERAC1 gene encoding a serine active site containing 1 protein were described in patients affected by this syndrome.

Duodenal Atresia Associated with Apple Peel Atresia and Situs Inversus Abdominus: A Case Report.

Duodenal atresia is rarely associated with situs inversus abdominus. We report a case of duodenal atresia associated with small bowel atresia of apple peel type and situs inversus abdominus.

[Evaluation of the measurement of capillary glucose concentration versus plasma glucose in the newborn].

Background: The reliability of blood glucose monitoring in neonatology is not always confirmed. The aim of this study was to evaluate the reliability of blood glucose measurements made with three different devices in newborns.

Patients And Methods: The study was prospective, conducted in a medical and neonatal intensive care department over a period of 4 months.

[Neonatal hyperthyroidism and maternal Graves disease].

The onset of Graves disease during pregnancy exposes the neonate to the risk of hyperthyroidism. The newborn must be monitored and treatment modalities known to ensure early treatment of the newborn. We report on the case of an infant born at term of a mother with Graves disease discovered during pregnancy.

In vitro comparison of the radiopacity of cavity lining materials with human dental structures.

Aim: To compare the optical densities (OD) of calcium hydroxide (CH) and glass ionomer cement with the same thicknesses of the dental structures.

Materials And Methods: Eighteen specimens of each material, with thicknesses of 0.5, 1.

Color stability of composites subjected to accelerated aging after curing using either a halogen or a light emitting diode source.

The purpose of this study was to evaluate, in vitro, the color stability of three composite resins of two different shades (A3 and C3) cured with either a quartz tungsten halogen (QTH) or a light emitting diode (LED) source. Forty specimens (20 x 2 mm) were prepared for each composite (Tetric Ceram, Heliomolar and Esthet-X), being 20 for each shade. In each group, 10 specimens were light-cured using the QTH unit and 10 with the LED source.

[Extraskeletal osteosarcoma of the forearm: a case report].

Extraskeletal osteosarcoma is a rare soft tissue tumor. We report an exceptional case located in the forearm. A 62-year-old woman consulted for a tumor of the right forearm which she had noticed for six months.

[Primary chemotherapy with the Rosen T10 protocol before conservative surgery in limb primitive osteosarcomas: results about 56 cases].

We report the results of a prospective Tunisian study using primary chemotherapy followed by conservative surgery in primitive limb osteosarcoma. From January 1988 to January 1998, 56 patients affected by limb osteosarcoma entered in a prospective study of neoadjuvant chemotherapy with the T10 protocol before surgery with a conservative intent. Initial work-up include: clinical exam with tumor measurements, chest and limb X-rays, limb CT-scan or MRI, chest CT-scan, bone scintigraphy and hematological and renal biological exams.

[Patelloplasty for extensive lesions of the patellar cartilage].

We have been able to review 100 cases of patelloplasty for extensive lesion of the patellar cartilage with an average follow up of 5 years. The technic for the procedure is described. The study of the results (64% of good and very good results) allow us the emphasize the criteria for best indications and technic.

[Contribution of echography in the course and treatment of acute osteomyelitis].

In a series of 43 cases of acute hematogenous osteomyelitis, the ultra sound (US) allowed the diagnosis and the accurate localisation of the sub periosteal abscess. The early surgical treatment of the sub periosteal abscess since its nascent or, at least, before its rupture into the soft parts, changes completely the development of the illness and reduces considerably the chronicity forms. This early surgical treatment allows also to isolate rapidly the germ and to test its sensitiveness to antibiotics, which insures a better effectiveness to the medical treatment.