Delays in the management of AMI: Results of an investigation conducted in Sousse (Tunisia)

The goal of our work was to assess the delays of admission for Acute Myocardial Infarction (AMI) in Sousse (Tunisia) and to identify predictors of these delays. Our prospective survey was led from January 1999 to December 2001; 232 patients with AMI were included. The onset of symptoms usually occurred in the patient's home (80.6%). The chest pain was atypical in 19.4% of cases; 91% of patients directly consulted the emergency departments, whereas the ambulatory emergency services were used in only in 2.2% of cases. Delays of hospitalization in coronary care units were on average too long (14 h 21 min +/- 19 h 16 min). This prolongation was essentially caused by a too long period between onset of symptoms and first patient call. In bivariate analysis, dyslipidemia, diabetes, absence of smoking and an atypical symptoms were associated with prolonged hospitalization delays. However in multivariate analysis, only diabetes and atypical symptoms were independent factors associated with a hospitalization delay of more than 12 h. In 23% of the patients, a prolonged pre-hospital time period prevented the use of thrombolysis. CONCLUSION: Pre-hospital delays should be shortened by a multidisciplinary action that especially focuses on a better sanitary education of patients to risk.     

Familial adenomatous polyposis

Familial adenomatous polyposis represents approximately 1% of all colorectal tumours and is caused by germline mutations in the adenomatous polyposis coli (APC) gene. A 38-year-old lady presented with abdominal pain, diarrhoea and iron deficiency anemia. There was no history of colorectal cancer in the family. Colonoscopy showed hundreds of polyps throughout the colon sparing the rectum, and an ulcerative tumour of the sigmoid colon. The diagnosis was familial adenomatous polyposis (FAP) and adenocarcinoma of the sigmoid colon. Colectomy with ileorectal anastomosis was performed and later on she was given chemotherapy and advice life long surveillance. The patient had one brother and one sister, without clinical symptoms. The brother had a single hyperplastic rectal polyp, while the sister refused colonoscopy. The patient has 2 sons, the elder son had normal colonoscopic findings, and the younger son was also diagnosed as a patient of FAP and referred for colectomy.     

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities. Using homozygosity mapping in a large inbred Lebanese Druze family, we previously reported the mapping of the disease gene at chromosome 15q24–q26 to a 3.6-cM interval between markers D15S206 and D15S199. Screening of candidate genes lying in this region led to the identification of a homozygous p.Gly1046Arg missense mutation in ZNF592, in all five affected individuals of the family. ZNF592 encodes a 1267-amino-acid zinc-finger (ZnF) protein, and the mutation, located within the eleventh ZnF, is predicted to affect the DNA-binding properties of ZNF592. Although the precise role of ZNF592 remains to be determined, our results suggest that ZNF592 is implicated in a complex developmental pathway, and that the mutation is likely to disturb the highly orchestrated regulation of genes during cerebellar development, by either disrupting interactions with target DNA or with a partner protein.     

Computerized home video detection for motherese may help to study impaired interaction between infants who become autistic and their parents

Autism is a well-defined clinical syndrome after the second year of life, but information on autism in the first two years of life is still lacking. The study of home videos has described children with autism during the first year of life as not displaying the rigid pattern typical of later symptoms. Therefore, developmental/environmental factors are claimed in addition to genetic/biological ones to explain the onset of autism during maturation. Here we describe (1) a developmental hypothesis focusing on the possible implication of motherese impoverishment during the course of parent-infant interactions as a possible co-factor; (2) the methodological approach we used to develop a computerized algorithm to detect motherese in home videos; (3) the best configuration performance of the detector in extracting motherese from home video sequences (accuracy = 82% on speaker-independent versus 87.5% on speaker-dependent) that we should use to test this hypothesis.     

p16 overexpression in precancerous and cancerous lesions of the uterine cervix in Tunisian women

Uterine cervix cancer is an important public health problem in developing countries. However, there is a substantial lack of inter-observer diagnostic reproducibility for its precursor lesions (CIN1). The study was performed to evaluate the usefulness of p16^INK4A overexpression as a surrogate marker for uterine cervix precancerous lesions and high-risk human papillomavirus (HPV) infection.