Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene.

BACKGROUND: Mutations in the SLC29A3 gene, which encodes the nucleoside transporter hENT3, have been implicated in syndromic forms of histiocytosis including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, Faisalabad histiocytosis and Familial Rosai-Dorfman disease (RDD). Herein, we report five new patients from a single family who present with phenotypes that associate features of H syndrome and Familial Rosai-Dorfman disease. METHODS: We investigated the clinical, biochemical, histopathological and molecular findings in five Tunisian family members' diagnosed with Familial RDD and/or H syndrome. The solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3) gene was screened for molecular diagnosis using direct Sanger sequencing. RESULTS: Genetic analysis of all affected individuals revealed a previously reported missense mutation c.1088 G > A [p.Arg363Gln] in exon 6 of the SLC29A3 gene. Four affected members presented with clinical features consistent with the classical H syndrome phenotype. While their cousin's features were in keeping with Familial Rosai-Dorfman disease diagnosis with a previously undescribed cutaneous RDD presenting as erythematous nodular plaques on the face. This report underlines the clinical variability of SLC29A3 disorders even with an identical mutation in the same family. CONCLUSION: We report a rare event of 5 Tunisian family members' found to be homozygous for SLC29A3 gene mutations but showing a different phenotype severity. Our study reveals that despite a single mutation, the clinical expression of the SLC29A3 disorders may be significantly heterogeneous suggesting a poor genotype-phenotype correlation for the disease.

An Unusual Cervical Injury Caused by Accidental Electrical Burns.

High-voltage electrocution is mostly unintentional, and it is associated with significant morbidity and mortality due to severe tissue damages. The present report describes an atypical electrocution with multiple victims and a fatal outcome of a 48-year-old man due to unusual neck injuries caused by accidental electrical burns.

A case of sudden death due to spontaneous right subclavian artery dissection.

Acute subclavian artery dissection (SAD) is a rare entity which is usually associated with several vascular abnormalities and traumatic events. Spontaneous SAD remains exceptional and often affects the left artery. We report the autopsy case of a 29-year-old female who died suddenly following a spontaneous dissection of the right subclavian artery.

[Gabapentin-induced cutaneous leukocytoclastic vasculitis]. / Vascularite cutanée leucocytoclasique induite par la gabapentine.

We describe the case of a woman who developed a cutaneous leukocytoclastic vasculitis following a treatment with gabapentine.

[Not Available]. / Vascularite cutanée leucocytoclasique induite par la gabapentine.

We describe the case of a woman who developped a cutaneous leukocytoclastic vasculitis following a treatement with gabapentine.

[Primary biliary cirrhosis: a retrospective study of 36 cases]. / La cirrhose biliaire primitive: étude rétrospective d'une série de 36 cas au centre Tunisien.

BACKGROUND: Primary biliary cirrhosis is a rare cholestasis liver disease affecting the women of mature age,it association with Autoimmune hepatitis defined the overlap syndrome. AIM: It was to determine epidemiological, clinic-biological, immunological, histological, therapeutic and evolutive characteristics of PBC and to compare them to those in subjects having an overlap syndrome. METHODS: It is a retrospective study grouping all the cases of PBC hospitalized over a period of 15 years (1995-2009) in the hepatogastro-enterology department at Sahloul hospital in Sousse. RESULTS: Thirty six cases were grouped over the period of the study. They were all women. The mean age was 54.5 years (28-79). The disease was symptomatic at the moment of diagnosis in 75% of the cases. The functional signs revealing the disease were principally asthenia, present in 69.4% of the cases, followed by jaundice and prurit. Cholestasis was constant in all the patients, stage III of scheuer was the most frequent in the patients (25%) followed by stage IV (22%). OS was present in 1/3 of the patients; the treatment is based on the prescription of urso-desoxycholic Acid associated with corticoids and with immunosuppressors in the case of OS. The average survival of the patient having PBC and OS was comparable. It was respectively of 61.8 and 55.9 months. CONCLUSION: Our results as well as the literature reveal the rarety of this disease and its predominance in women. PBC has to be diagnosed at an early stage to guarantee a better response and a better survival of the patients.

microRNAs expression profile in phyllodes tumors of the breast.

Proliferation of both stromal and epithelial components is a characteristic of fibroepithelial cancers of the breast. Certain fibroepithelial tumors of the breast, such as fibradenomas and phyllodes tumors, are challenging to distinguish and categorize. To find biomarkers for early diagnosis and improved disease management, it is crucial to deepen our understanding of the molecular pathogenesis pathways and tumor biology of PTs. It has been demonstrated that microRNAs (miRNAs) have significant roles in cancers; the expression pattern of miRNAs can help with cancer categorization and treatment. In contrast, little is understood about miRNAs in breast fibroepithelial cancers. This study was conducted retrospectively with the goal of assessing the expression of six mature miRNAs (hsa-miR-21, hsa-miR-155, hsa-miR-182, hsa-miR-34a, hsa-miR-148a, and hsa-miR-205) in breast fibroepithelial cancers using real-time PCR and predicting these miRNAs' targets using computational techniques. This study comprised 64 patients in total-55 with phyllodes tumors and 9 with fibroadenoma. The research was carried out at the Farhat Hached University Hospital's pathology department in Tunisia. These particular miRNAs expression levels were evaluated via qRT-PCR, and in silico techniques were utilized to predict potential miRNA targets. Analysis of miRNA expression in fibroadenoma and phyllodes tumor tissues revealed that miR-21, miR-155 and miR-182 were upregulated in PTs compared to fibroadenoma and normal tissues. We reported that miR-34a, miR-148a and miR-205 were downregulated in both borderline and malignant PTs compared to fibroadenoma and normal tissue. In silico miRNA target prediction suggested the involvement of these molecules in a wide context of cell signaling pathways.