Biomedical subjects

Monia Kharfi

Publications and source records attributed to Monia Kharfi.

9 recordsLinked to original sources

PubMed2003

Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica.

Acrodermatitis enteropathica is rare autosomal recessive disorder characterized by a severe nutritional zinc deficiency. We and others have recently identified the human gene encoding an intestinal zinc transporter of the ZIP family, SLC39A4, as the mutated gene in acrodermatitis enteropathica (AE). A first mutation screening in 8 AE families (15 patients out of 36 individuals) revealed the presence of six different mutations described elsewhere. Based on these results, we have evaluated the involvement of SLC39A4 in 14 patients of 12 additional AE pedigees coming either from France, Tunisia, Austria or Lithuania. A total of 7 SLC39A4 mutations were identified (1 deletion, 2 nonsense, 2 missense, and 2 modifications of splice site), of which 4 are novel: a homozygous nonsense mutation in 3 consanguineous Tunisian families [c.143T>G (p.Leu48X)], a heterozygous nonsense mutation (c.1203G>A (p.Trp401X)) in a compound heterozygote from Austria also exhibiting an already known missense mutation, and distinct homozygous mutations in families from France or Tunisia [c.475-2A>G and c.184T>C (p.Cys62Arg)]. Furthermore, two other potential mutations [c.850G>A (p.Glu284Lys) and c.193-113T>C] were also observed at homozygous state in a French family formerly described. This study brings to 21 the number of reported SLC39A4 mutations in AE families.

Acrodermatitis↗

PubMed2003

[Epidemiologic profile of sexually transmitted diseases (STD) through a specialized consultation of STD].

INTRODUCTION: A confidential, free and specialised consultation of sexually transmitted diseases (STD) was initiated since 1993 in the department of Dermatology of hospital Charles Nicolle. We present the epidemiological and clinical features of this consultation. PATIENTS AND METHODS: It is a retrospective study including patients consulting during a period of 7 years (1993-1999). 546 patients were included. The mean age of our patients was 29 years and the sex-ratio 9. The diagnosis of urethritis was done for 242 patients. This diagnosis was clinic in the most cases. Urethral swabs was done for 71 patients. Neisseria gonorrhoeae was isolated in 56 cases and Chlamydia trachomatis in 15 cases. 41 patients were directed to our consultation for a positive syphilis serology. Condyloma were diagnosed in 23 cases and scabies in 12 cases. HIV serology was positive in 10 cases. In 3 cases, the diagnosis of HIV infection was done in this consultation. DISCUSSION: The epidemiologic profile showed a frequency of young men, bachelors and having multiple sexual partners. Clinically, urethritis was the principal STD observed.

Adolescent↗

PubMed2003

[Psoriasis: an update].

Psoriasis is a frequent dermatosis observed in 2 to 3% of people. It usually begin at the second decade of age but can also affect children. Diagnosis is often easily made by clinical exam. How ether many problems characterise this pathology and are not actually resolved: problems about epidemiology, etiology, treatment and psychological effects.

Humans↗

PubMed2003

[Epidemio-clinical profile of human scabies through dermatologic consultation. Retrospective study of 1148 cases].

We report a retrospective study of all scabies cases collected in the department of Dermatology of Charles Nicolle Hospital during a 8 year-period (1993-2000). 148 cases of scabies were collected with a mean incidence of 144 new cases/year (65-204). Diagnosis was made clinically in all cases. Parasitological exam was done in case of doubtful diagnosis. Our purpose is to try to define an epidemio-clinical profile of scabies in Tunisia and to estimate the incidence of this parasitosis through our dermatological consultation with reviewing the literature data.

Adolescent↗

PubMed2002

Identification of SLC39A4, a gene involved in acrodermatitis enteropathica.

We have characterized the human gene SLC39A4, which encodes a protein with features characteristic of a ZIP zinc transporter. The chromosomal location and expression of SLC39A4, together with mutational analysis of eight families affected with acrodermatitis enteropathica, suggest that SLC39A4 is centrally involved in the pathogenesis of this condition.

Acrodermatitis↗

PubMed2002

[Mycosis fungoides. Study of a series of 11 Tunisian cases].

Mycosis fungoides is an epidermotropic cutaneous T lymphoma. It's a non Hodgkinian lymphoma. We report the results of a retrospective review of 11 mycosis fungoide seen during 22 years. The frequency of MF was about 39.3% among all cutaneous lymphoma. Six patients were male and 5 were female; the mean age was about 56 years. Mean delay between diagnostic and the first manifestation was about 25 months. All patients had the progressive form: 4 had infiltrate plaques and 7 were at the tumoral phase. Lymph nodes and medullar metastases were noted respectively in 1 and 2 cases. Treatment was mono or polychemotherapy associated in 6 cases with topical drug. Three patients died of their diseases According to our experience and after reviewed the literature, we notice that our patients are slightly younger without male predominance. The diagnostic was done tardily and this may explain the pejorative prognostic.

Administration, Topical↗

PubMed2002

[Profile of leg ulcers. A review of a series of 70 Tunisian cases].

Leg ulcer often requires hospitalization in Dermatology and involves problems of therapeutic management. We intended to draw a clear epidemiological, clinical and therapeutic profile of leg ulcer through a series of 70 cases observed over a period of 46 months in the Dermatology department at Charles Nicolle Hospital in Tunis. Like other north african works, our survey stresses a particular epidemiological profile. In fact, leg ulcer affects young men at a ratio of 5 to 1 and an average age of 43.6 years. The vascular etiological factor accounts for 63.4% of all cases of leg ulcer whereas other etiologies make up a wade range owing to their multiplicity. Yet, they may reveal a potential pathology. Treatment is both symptomatic and etiological. Treatment with saccharose has been tried on 23 patients among whom 82% showed good tolerance and 47% complete healing. As they are carried out, our results are compared with the data of literature.

Adolescent↗

PubMed2002

[Cimetidine therapy for multiple warts in children].

Various treatment modalities are used to treat warts and this indicates that none is uniformly effective. Cimetidine, an H2-receptor antagonist, has been tried to treat warts because of its immunomodulatory effects. Sixty children with multiple and recalcitrant warts were included in a placebo-controlled, double-blind study. Patients were randomly allocated to treatment groups equally. The groups received cimetidine, 25 to 30 mg/kg daily, or placebo for 2 months. At the end of the therapy, only 10 cimetidine-treated and 9 placebo-treated were examined. Cure rates obtained were 60% in the cimetidie-treated group and 33% in the placebo-treated group. Among our data and the review of the literature, we believe that cimetidine is not appropriate as standard therapy for warts, but it may be an interested therapy for multiple and recalcitrant warts of children.

Adjuvants, Immunologic↗

PubMed2002

[Erosive buccal lichen planus: nine case reports].

Erosive oral lichen planus (EOLP) is uncommon. We present nine cases of EOLP in patients aged from 39 to 77 years. The aim of our retrospective study was to determine the clinical particularities and the treatment difficulties of this disease.

Adult↗