PubMed Health⌕ Search

Biomedical subjects

Samir Boubaker

Publications and source records attributed to Samir Boubaker.

6 recordsLinked to original sources
PubMed2006

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region.

Transgressive palmoplantar keratoderma (PPK) is the phenotypic hallmark of Mal de Meleda (MDM, MIM 24300). It is characterized by erythema and hyperkeratosis that extend to the dorsal face of the hands and feet. The disease is distributed worldwide and includes the Mediterranean population. The gene responsible for MDM, ARS (component B) mapped on chromosome 8qter, encodes for the SLURP-1 protein (Ly-6/uPAR related protein-1). A variety of mutations within the ARS gene have been shown to underlie MDM in different populations. Genetic heterogeneity of MDM is suspected. We have recently shown that three different homozygous mutations (82delT, C77R, C99Y) were responsible for MDM in 17 patients from Northern Tunisia belonging to eight unrelated consanguineous families. We report here a Tunisian family with three siblings presenting with recessive transgressive PPK closely resembling the MDM phenotype that excludes linkage to the ARS gene.

Adult↗
PubMed2004

Inbred strains derived from feral mice reveal new pathogenic mechanisms of experimental leishmaniasis due to Leishmania major.

Two inbred mouse strains, derived from feral founders, are susceptible to experimental leishmaniasis due to Leishmania major and support a disease of a severity intermediate between those observed in strains C57BL/6 and BALB/c. Mice of the MAI strain develop a severe, nonhealing, but nonfatal disease with no resistance to a secondary parasite challenge. The immunological responses showed a TH2 dominance characterized by an early peak of interleukin-4 (IL-4) and IL-13. However, neutralization of IL-4, which leads to a resistance phenotype in BALB/c mice, has no effect on disease progression in MAI mice. Mice of strain PWK develop a protracted but self-healing disease, characterized by a mixed TH1-plus-TH2 pattern of immune responses in which IL-10 plays an aggravating role, and acquire resistance to a secondary challenge. These features are close to those observed in human cutaneous leishmaniasis due to L. major and make PWK mice a suitable model for the human disease.

Animals↗
PubMed2003

[Endometrial actinomycosis. Two case reports].

Actinomyces is an aerobic, Gram positive bacteria saprophyte of the genital tract. The endometrial involvement is extremely rare. The authors report two cases of pelvic actinomycosis in a 58 and 55 year old women, the second using intrauterine device for 11 years.

Actinomycosis↗
PubMed2003

[Villous atrophy and idiopathic epilepsy].

Reports of an association between epilepsy and coeliac disease (CD) are not new. Chapmann reported a prevalence of epilepsy in CD of 5.5% and accepted a figure of 0.5% for the community. Prevalence of coeliac disease among epileptic patients is not well established. The aim of this study is to determine the prevalence of CD in epileptic patients for this 49 epileptic patients (31 male and 28 female) were selected between January 96 et June 99 to underwent fibroscopy with intestinal biopsy. Anti body to gluten were measured in most patients. The patients with villous atrophy underwent cranial computed tomography. 4 of 49 patients (8.1%) were identified as having coeliac disease on the basis of a flat intestinal mucosa with increasing of LIE. 2 among this 4 patients had recurrent diarrhea. Any patient showed cerebral calcification associated with epilepsy and CD. Only one patient among 4, followed a gluten free-diet with a significant reduction in seizure frequency. This suggest that CD should be ruled out in all case of epilepsy of unexplained origin.

Adolescent↗
PubMed2002

[Frequency of Pneumocystis carinii pneumonia in HIV-infected patients in Tunisia].

In Tunisia, as in most african countries, Pneumocystis carinii pneumonia (PCP) is considered to be rare in HIV-infected patients. Frequencies of 8.6% and 21% have been reported. We examined 27 broncho-alveolar lavage specimens collected from HIV-infected tunisian individuals with respiratory symptoms over 4 years (1994-1997), by cyto centrifugation, Giemsa and Gomori-Grocott stain. Pneumocystis carinii (P carinii) was present in 9 cases, accounting for 33.3% of all specimens. Investigation of the reasons for the differences between african reports is necessary to establish appropriate therapeutic management. Technical difficulties of direct recognition of P carinii and selection bias may account for differences between african reports. However, differences still remain between the frequencies recorded in Africa and in other parts of the world, and recent advances seems to correlate this with geographical biodiversity of human-derived strains of P carinii and with differences in host ethnic background.

Adult↗