Daniel Cattan, MD, Michael Dervichian, MD, Michael Thomas, Catarine Dode Dpharm and Isabelle Touitou, MD
Background: Familial Mediterranean fever is a genetic disease in which some characteristic gene mutation have been found.
Objective: To analyze the phenotype-genotype correlations in North African Jews and Armedians with FMF.
Methods: We studied MEFV gene mutations and phenotype-genotype correlations in North African Jews and Armedians with Familial Mediterranean Fever living in France.
Results: M694V mutation was the most common mutation in Jews and in Armenians. Patients with M6801 homozygosity or M6801/M694V compound heterozygosity had a phenotype as severe as patients with M694V homozygosity.
Conclusions: This study characterizes the phenotype-genotype in specific ethnic groups of patients with FMF.
Moshe Shabtai, MD, Patricia Saavedra-Malinger, MD, Esther L. Shabtai, MSc, Dan Rosin, MD, Josef Kuriansky, MD, Michal Ravid-Megido, MD, MSc, Menachem Ben Haim, MD and Amram H. Ayalon, MD
Background: Fibroadema, one of the most common benign breast lesions, has a characteristic age-specific incidence and is associated with other pathological entities in 50% of cases. The clinical or imaging diagnosis of fibroadenoma may be erroneous, and in some cases is found to be invasive cancer. The clustering of such entities, their correlation with age, and the risk of synchronous breast malignancy are uncertain.
Objective: To explore the possibility of any sigficant clustering of fibroadenoma-associated benign breast disease and to assess the possible risk of concomitant breast cancer.
Method: We analyzed the pathological results of 147 women undergoing excisional biopsies for fibroadenoma diagnosed pre-operatively either by clinical examination and imaging (n=117) or by radiology alone (n=30). The inter-relationships among all entities associated with fibroadenoma were studies by hierarchial cluster analysis. The correlation of the various pathologies with the risk of invasive breast cancer in relation to the patient’s age was also evaluated.
Results: Fibroadema-associated pathologies were found in 48% of the cases: sclerosing adenosis (23%), duct ectasia (17/7%), apocrine metaplasia (15.6%), florid fibrocystic disease (12.9%), duct papillomatosis (11.6%), infiltrating duct carcinoma (5.4%), duct carcinoma in situ (3.4%), and 1 case of lobular carcinoma in situ (0.6%). An orderly internal hierarchy and three significant clusters emerged: a) epithelial apocrine metaplasia, duct ectasia and sclerosing adenosis (similarity coefficients 16.0, 11.0 and 8.0 respectively); b) papillomatosis, florid fibrocystic disease and calcifications (similarity coefficients of 6.0, 4.0 and 2.0 respectively); and c) infiltrating duct carcinoma in situ (similarity coefficients of 1.8 and 1.6 respectively). Seven of the eight patients with breast cancer were older than 40 years.
Conclusions: In about half of the cases fibroadema was associated with other pathological entities clustered in an orderly hierarchy. The rarity of synchronous breast cancer in the younger age group and its more common association with fibroadema in the older age groups dictate a different approach to each. The finding of fibroadema in women older than 40 indicates the need for surgical excision.
Sima Halevy, MD, Hani Giryes, MD, Michael Friger, PhD, Nili Grossman, PhD, Zeev Karpas, PhD, Batia Sarov, PhD and Shaul Sukenik, MD
Background: A beneficial effect was observed in patients with psoriasis vulgaris following balneotherapy with Dead Sea bath salt.
Objectives: To evaluate the possible role of trace elements in the effectiveness of balneotherapy.
Methods: Serum levels of 11 trace elements were analyzed in 23 patients with psoriasis vulgaris who participated in a double-blind controlled study of balneotherapy, with either Dead Sea bath salt (12 patients) or common salt (11 patients). Thirteen healthy volunteers served as controls.
Results: The mean pre-treatment serum levels of boron, cadmium, lithium and rubidium were significantly lower in patients compared to controls, whereas the mean pre-treatment serum level of manganese was significantly higher in patients compared to controls. Balneotherapy with Dead Sea bath salt resulted in a significant decrease (P = 0.0051) in the mean serum level of manganese from 0.10 ± 0.05 mmol/L to 0.05 ± 0.02 mmol/L. The mean reduction in the serum level of manganese differed significantly (P = 0.002) between responders (% Psoriasis Area and Severity Index score reduction ³ 25) and non-responders (% PASI score reduction < 25). Following balneotherapy with Dead Sea bath salt the mean serum level of lithium decreased in responders by 0.01 ± 0.02 mmol/L whereas its level in non-responders increased by 0.03 ± 0.03 mmol/L. (P = 0.015).
Conclusions: Manganese and lithium may play a role in the effectiveness of balneotherapy with Dead Sea bath salt for psoriasis.
Kostas Konstantopoulos, MD, Alexandra Kanta, MD, Michael Tzoulianos, MD, Sophia Dimou, MD, Flora Sotsiou, MD, Marianna Politou, MD and Dimitris Loukopoulos, MD