Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

No abstract available.

[Screening of cervical hpv infection at the reproductive health centre of ariana]

Cervical cancer is the leading cause of cancer mortality among women in developing countries. Over 99 per cent of cases are linked to genital infection with Human Papillomaviruses [HPVs], which are the most common sexually-transmitted viruses worldwide and infect an estimated 660 million people. In light of the advances of the development of HPV vaccines in the world, the challenges to introducing and sustaining such vaccines in the public sector are faced by our countries, generating the need of understanding the local epidemiology of the disease. This study aims to obtain some relevant data on local disease burden in a big health care centre of Tunis. In this study, 133 healthy Tunisian women are screened for HPV infection with detection of 37 genotypes. Samples are collected on dry cotton swabs and genotyping use PCR and linear array assay. 7,8% of women were infected and HPV 16 was the only High-risk genotype encountered. 62,5% of infected women doesn't show any cytological abnormality on pap smears. Low and High grade epithelial lesions were associated with HPV 16. There is currently few and sparse data in Tunisia. This work represents to our knowledge the first HPV cervical infection screening study in Tunisia in a basic health centre. The most relevant data is the High frequency of High risk HPV infections related to HPV 16. More than a half of cervical smears in infected women does not show any cytological abnormality and thus, pap smear screening is not appropriated to detect this infection

Cutaneous, pulmonary and sinusal aspergillosis in a diabetic patient

Cutaneous aspergillosis is rarely reported in diabetic patients. The objective of our study is to report a case of lethal disseminated aspergillosis revealed by multiples skin necroses with pulmonary and sinusal involvement in a diabetic patient. A 60-year-old diabetic woman. presented wins one month-rapidly-extensive, 1 to 10 cm skin necroses of the trunk limbs and eyelids. Few days after her admission. she developed dyspnoea. Chest X-ray showed an interstitial and alveolar syndrome with multiple excavated anfractuous-edged-opacities. Facial CT scan showed a right orbital cellulitis with Pansinusitis. The methamine-silver stains on a cutaneous biopsy showed filamentous septate fungal hyphae with branches at right angles. The immunofluorescence with an anti-aspergillus serum was positive. The diagnosis of secondary disseminated aspergillosis to a pulmonary focus with cutaneous, sinusal, and upper airway's dissemination was made. The patient died despite an intravenous amphotericin B therapy. This report emphasizes the importance of evoking and seeking for a mycosis in every skin necrotic and ulcerative lesions occurring in an immunocompromised patient. The prognosis den on the diagnosis and treatment institution delay

[Gastritis cystica polyposa: report of 7 cases and literature review]

Gastritis cystica polyposa [GCP] is a rare inflammatory disease of the gastric remnant that usually develops after partial gastrectomy. It is defined by the presence of polyps on anastomotic gastric mucosa and at histopathobogicat examination, by the presence of mucosal and submucosal cysts with foveolar hyperplasia. The disease is characterized by the frequency of gastro-intestinal bleeding and possibility of carcinomatous association. We report seven cases of GCP collected over 5 years [1994-1999]. Diagnosis was made 9 to 45 years after partial gastrectomy and Finsterer. The patients were 52 to 72 years old. Revealing symptoms were cardiac failure, cardiac ischemia, melena, severe anemia and epigastric pain. For one patient, GCP was discovered casually. Endoscopic examination showed in all patients the presence of several polyps sized between 3 to 15 mm on the perianastomotic gastric remnant. Histology examination of the polyps showed microscopic a features of GCP in all cases. in one patient, there was a mild it glandular atrophy with extensive intestinal metaplasia and mild dysplasia. Helicobacter pylori was present only in this case