Association study between vitiligo and autoimmune-related genes CYP27B1, REL,TNFAIP3, IL2 and IL21

The aetiology of vitiligo has not been fully elucidated, and several hypotheses have been investigated; among them, the most explored assumes an autoimmune basis for the disease. Supporting this hypothesis is the frequent co-occurrence of autoimmune diseases with vitiligo. In addition, various genetic loci associated with vitiligo harbour key immune response genes. Our general hypothesis is that autoimmunity-associated genes participate in the control of vitiligo susceptibility. To investigate this hypothesis, we tested for association between vitiligo and genes CYP27B1, REL, TNFAIP3 and IL2/IL21, all previously related to autoimmune diseases associated with vitiligo. The study was performed using two independent population samples: a family-based discovery set (211 trios) and a replication set (131 cases/119 controls). Statistically significant association with vitiligo was detected between markers of the REL and IL2 gene in the family-based sample. Both association signals were concentrated among patients displaying autoimmune comorbidity and non-segmental vitiligo. Evidence for validation was detected for IL2 marker. Our findings suggest REL and IL2 as new vitiligo susceptibility genes and reinforce the hypothesis of a shared genetic mechanism controlling vitiligo and other autoimmune diseases.     

Effect of the menstrual cycle and oral contraceptives on aromatase and cyclooxygenase-2 expression in adenomyosis.

OBJECTIVES: To determine whether aromatase expression in the eutopic endometrium and adenomyotic foci is affected by previous use of oral contraceptives containing gestodene, and to determine whether changes in cyclooxygenase-2 (COX-2) expression occur in adenomyosis during the menstrual cycle. PATIENT AND METHODS: This was a retrospective cohort study carried out in paraffin-embedded endometrial tissue obtained from patients with a histological diagnosis of adenomyosis obtained during the proliferative (n = 25) and luteal (n = 10) phases of the menstrual cycle and following the use of continuous oral contraception with gestodene/ethinyl estradiol (n = 7). COX-2 and aromatase expression were measured in both eutopic endometrium and adenomyotic foci using immunohistochemical methods. RESULTS: Aromatase expression was detected in 80% of the endometrial slices by immunohistochemistry. In positive cases, aromatase was mainly detected in the stromal cells of the eutopic endometrium, whereas in the adenomyotic foci this expression was negative in the majority of the cases. Oral contraceptives containing gestodene, on the other hand, were effective in suppressing aromatase expression in both eutopic and ectopic endometrium. COX-2 expression was detected by immunohistochemistry in the glandular epithelium of both eutopic endometrium and adenomyotic foci and there were no significant changes in its intensity throughout the menstrual cycle. CONCLUSION: Aromatase expression in the eutopic endometrium and adenomyotic foci is suppressed by oral contraceptives containing gestodene. Increased aromatase activity may be responsible for the persistent COX-2 expression during the luteal phase.     

Medullary paracoccidioidomycosis: report of a case

Paracoccidioidomycosis of the central nervous system presents either as meningeal or pseudotumoral lesions. Although occurring more frequently in the brain and meninges, they can occasionally involve the spinal cord. A case of paracoccidioidomycosis in the cervical spinal cord is reported in this paper. Difficulties in establishing the etiologic diagnosis, the importance of radiologic examination of the thorax, and the treatment of the patient are commented. In an extensive review of the literature on the subject, only three other cases have been found, which are also discussed.     

Primary pregnancy in the liver. A case report

A case of intra-hepatic pregnancy is reported. The patient was 32 years old and presented with an acute intra-abdominal hemorrhage. At surgery a spongy 3 x 2 x 1.5 cm mass was removed from the right liver lobe. Microscopically, well developed chorionic villi appeared invading the liver tissue. The patient had a relatively uneventful recovery.     

Temporal arteritis presenting with scalp ulceration

We report the case of a 75-year-old-woman who presented with bilateral scalp ulcerations and blindness, accompanied by severe headache and scalp tenderness, due to bilateral temporal arteritis without systemic involvement. A biopsy taken from the border of an ulceration showed evidence of giant cell arteritis. She was treated with oral prednisone, 60 mg per day. The ulcerations healed in a few weeks but the vision loss was irreversible. This case highlights for temporal arteritis the importance of accurate and timely diagnosis as well as the need for prompt therapy with systemic steroids in order to avoid major complications, namely loss of vision. It also demonstrates that scalp necrosis and ulcerations are skin signs associated with a poor prognosis.     

FINE NEEDLE ASPIRATION CYTOLOGY OF PALPABLE BREAST LESIONS

Fine needle aspiration cytology is a safe diagnostic technique for breast cancer and can identify certain benign lesions, which can be excised without affecting surrounding tissue. The combination of experienced operator and cytologist can yield high sensitivity and specificity, together with important prognostic information.     

Comparison of traditional and molecular methods for typing nontoxigenic strains ofCorynebacterium diphtheriae

Thirty-eight nontoxigenic strains ofCorynebacterium diphtheriae isolated between 1987 and 1992 from clinical specimens of French patients were typed by biotyping, antibiograms, bacteriophage typing, ribotyping, and restriction analysis by pulsed-field gel electrophoresis (PFGE). Excellent correlation occurred between the genotypes defined by PFGESfil profiles or by ribotypeBstEll profiles. Genotyping revealed seven genotype patterns among the 26 biotype mitis isolates, five among the nine biotype gravis isolates, and three among the three biotype belfanti isolates. Phage typing was nonreactive for nine of the 38 isolates. A combination of all the typing methods led to the identification of 19 different types ofCorynebacterium diphtheriae.     

Concentration and distribution pattern of selected micronutrients in preterm and term milk from urban Brazilian mothers during early lactation

The purpose of this study was to assess the concentration and binding pattern of zinc, iron, folate and vitamin B12 in milk of Brazilian women of low socioeconomic status giving birth at term or preterm, during early lactation. Protein, fat, total solids and ash concentrations were also determined. Protein and zinc concentrations decreased significantly as lactation proceeded whereas milk fat and folate increased with the lactation period. Total solids, ash, iron and vitamin B12 remained unchanged. Zinc was present mainly in the whey fraction while less than half of the total iron was present in this fraction, with no significant change due to stage of lactation. Unsaturated folate and vitamin B12 binding capacities and percentage of saturation of the folate binding protein increased with the stage of lactation. The vitamin B12 binding protein was highly unsaturated in all samples. There was no significant difference between term and preterm samples in the parameters investigated. Correlation analysis between milk components indicated significant relationships between total solids and fat, total zinc and whey zinc, folate and total folate binding capacity, unsaturated and total folate binding capacity, and unsaturated and total B12 binding capacity. In general, the nutrient concentrations found in this study are in good agreement with published data on milk composition of women from developed countries, with the possible exceptions of folate, which was lower, and iron, which was higher. The correlation of folate concentration with its binding protein found in this work supports the hypothesis of a regulatory role for folate levels in milk exerted by the folate binding protein in the mammary gland.