A novel large deletion in CCM1 gene in a Tunisian family.

Familial CCM is a rare entity associated with the mutation of three genes: CCM1 (KRIT1), CCM2 (MGC4607), and CCM3 (PDCD10). We report here the first description of a Tunisian familial CCMs composed of six members. The father and two daughters were affected and symptomatic. The two other kindred were healthy. Surgical treatment was performed in only one affected patient. Molecular analysis of KRIT1, MGC4607 and PDCD10 genes identified a large KRIT1 deletion of the first ten exons. To the best of our knowledge, this large deletion has never been reported before.

[Vertebral collapse revealing primary hyperparathyroidism in a 14-year-old girl]. / Tassement vertébral révélant une hyperparathyroïdie primaire chez une adolescente.

Primary hyperparathyroidism, widely prevalent in women after menopause, remains rare in children and adolescents. Sporadic forms are the most frequent. Clinical manifestations are general, renal, gastrointestinal, cardiac, or bony. Diagnosis is biological and radiological. The imaging modalities allow assessment of the disease impact and identification of the parathyroid adenoma.

Effects of permethrin on biomarkers in Mediterranean clams (Ruditapes decussatus).

The present study was focused on the assessment of Catalase (CAT) and Acetylcholinesterase (AChE) activities in Mediterranean clams (Ruditapes decussatus) exposed to 50, 100 and 150 µg/L of Permethrin for 5, 10, 15, 20 and 25 days. In water, the measured concentrations of Permethrin in the treated aquariums were respectively 16.66, 38.24 and 55.61 µg/L. Results showed that CAT activity was increased after 5 days of exposure to high concentration reaching maximum value of 10.14 µmol/min/mg proteins after 25 days. However, no significant changes in AChE activity after 5 days of exposure were detected in all treated groups. AChE activity was significantly inhibited after 10 days with 100 and 150 µg/L and still depending on concentration and time. Maximum inhibition of AChE activity was reached after 25 days with the highest concentration of Permethrin. Our data indicated that exposure to Permethrin modifies biomarker profiles inducing oxidative stress and reducing AChE activity in Mediterranean clams.

Combination of partial situs inversus, polysplenia and annular pancreas with duodenal obstruction and intestinal malrotation.

Situs inversus is a challenge to the physician, both for the diagnostic and for the therapeutic. A combination of partial situs inversus, annular pancreas and polysplenia with bowel malrotation has been reported in a newborn who presented as duodenal obstruction. Situs inversus is rare especially without heart malformation. All the abnormalities in this combination can be explained on the basis of multiple organ malrotation. It also demonstrates the necessity of meticulous investigation and precise description of the anomaly as far as the management of this case is concerned.

[Wegener's granulomatosis diagnosed by orbital-meningeal presentation: a case report]. / Granulomatose de Wegener révélée par une localisation orbito-méningée : à propos d'un cas.

Wegener's granulomatosis is a necrotizing granulomatous vasculitis with a strong affinity for the upper respiratory tract, lung and kidney. The ophthalmologic manifestation most often presents as inflammatory orbital pseudotumor or scleritis. We report a case of a 27-year-old woman with an orbital-meningeal presentation leading to a diagnosis of Wegener's granulomatosis.

[Spontaneous orbital hematoma: two case reports]. / Hématome orbitaire spontané: à propos de deux cas.

Although rare, spontaneous intra-orbital hematoma can quickly jeopardize vision. It usually presents with painful proptosis. It can result from multiple etiologies, and the diagnosis is based on imaging studies in the absence of known causes. We describe two cases of spontaneous intraorbital hematoma. The first, of unknown etiology, required needle drainage. The second was associated with a subperiosteal hematoma of the orbital roof complicating a periorbital bone infarction in a patient with sickle-thalassemia.

Dysplasia epiphysealis hemimelica: a report of four cases.

UNLABELLED: Dysplasia epiphysealis hemimelica (DEH), also known as Trevor's disease, is a rare congenital skeletal developmental disorder in childhood. It is characterized by an asymmetric osteocartilaginous overgrowth arising from epiphyses or epiphyseal equivalents. Lesions have hemimelic topography, usually occur in the lower limbs, most commonly in the ankle and the knee and affect either the medial or lateral part of one epiphysis. OBJECTIVE: The purpose of this study is to describe the imaging features of DEH by reporting four cases. MATERIALS AND METHODS: We present four cases of DEH in one female and three males aged between 7 and 15 years. Lower limb is involved in all cases and patients suffer from pain, limited function and deformity. Radiographs and CT findings were reviewed. All patients were treated by surgical excision. RESULTS: Plain X-ray revealed in all cases an irregular ossification arising from the affected epiphysis. The CT scan revealed an irregular fragmented osteocartilaginous mass involved from the epiphysis, with enlargement of epiphyses and intra-articular extension. CONCLUSION: The early diagnosis and treatment of DEH is necessary in preventing articular function, CT assists in defining the anatomic relationship between the mass and its parent epiphysis and in evaluating the condition of the articular cartilage and soft tissue. The distinct clinical and radiographic features should enable to differentiate the osteochondroma and the DHE.

[Orbital subperiosteal hematoma in child with sickle cell thalassemia. A case report]. / Hématome sous-périosté orbitaire chez un enfant drépano-thalassémique.

Sickle cell anemia is the most common hemoglobinopathy worldwide; its musculoskeletal complications consist more often of medullary infarctions involving long bones. Orbital infarction is uncommon. We report on a case of orbital subperiosteal hematoma in a 9-year-old male with a medical history of sickle cell thalassemia.

Effects of two lubricant oils on marine nematode assemblages in a laboratory microcosm experiment.

The effects of two lubricating oils on nematode assemblages of a Tunisian lagoon were investigated in a microcosm experiment. Sediment from a pristine site in Ghar El Melh lagoon (Western Mediterranean) was treated with either mineral oil (Mobil 20 W-50), a synthetic lubricant (Mobil 0 W-40), the same two lubricants after use in a vehicle, and effects were examined after 5 weeks. Univariate analysis showed significant differences between most univariate indices of the nematode assemblages in all the lubricant treatments as compared to the control. Total nematode abundance (I), species richness (d) and number of species (S) decreased significantly in all lubricant contaminated microcosms. However, evenness was not affected in all treated replicates except in used mineral lubricant treatment where it was significantly higher than in the control. Diversity (H') was only altered in synthetic lubricant treatments. Results from multivariate analyses of the species abundance data demonstrated that responses of nematode species to the two lubricants treatments were varied: Daptonema trabeculosum was eliminated in all lubricant treatments and seemed to be an intolerant species to oil contamination. Spirinia gerlachi increased in mineral lubricant treatments ("clean" and used) but was eliminated in all synthetic lubricant treatments. This species could be categorized as "resistant" to mineral oil contamination and intolerant to synthetic lubricant contamination. Terschellingia longicaudata increased only in synthetic lubricant treatments ("clean" and used) and appeared to be a "synthetic oil-resistant" species.

[MRI exploration for the evaluation of orbital implant biocolonization in children enucleated for retinoblastoma]. / Apport de l'IRM dans la surveillance de la biocolonisation des implants intra-orbitaires chez des enfants énucléés pour rétinoblastome.

PURPOSE: To evaluate the contribution of MRI exploration for the evaluation of orbital prothesis biocolonization. PATIENTS AND METHODS: We studied ten eyes of ten children who underwent enucleation for retinoblastoma and synthetic hydroxyapatite orbital implantation. Each patient was examined by MRI imaging with gadolinium within 2 months to 1 year. RESULTS: After gadolinium administration, five implants showed an enhancement. Nodular enhancement around the implant was noted in one patient with a recurrence of retinoblastoma, and brain metastases were shown in two cases. None of the orbital implants was rejected. CONCLUSION: Fibrovascular colonization reduces the risk of orbital implant migration. Magnetic resonance imaging is safe and effective in detecting extrusion or tolerance of the orbital implant.