Invasive lobular carcinoma mammographic findings: correlation with age, breast composition, and tumour size.

PURPOSE: The aim of this study was to evaluate mammographic findings associated with invasive lobular carcinoma in different age groups, taking into account breast composition and tumour size. MATERIAL AND METHODS: A total of 1023 invasive lobular carcinoma preoperative mammograms were evaluated. According to the American College of Radiology Breast Imaging Reporting and Data System, cancer mammographic findings were classified as mass, calcifications, architectural distortion, and asymmetry, and breasts were assessed as dense (C or D breast composition) or non-dense (A or B). The patient cohort was subdivided into 3 age groups (< 50, 50-69, ≥ 70 years of age). In order to make the size and age groups dichotomous variables and to perform multiple regression analysis, a cut-off of 10 mm was chosen for tumour size, and < 50-years-old and 50-69-years-old age groups were grouped together (< 70-years-old age group). RESULTS: Significant results of multivariate analysis were the association between mass finding and non-dense breasts and size ≥ 10 mm (p < 0.0001), between calcifications, and dense breasts, size < 10 mm and < 70-years-old age group (p < 0.0001), between distortion and < 70-years-old age group (p = 0.0366), and between asymmetry and ≥ 70-years-old age group (p = 0.0090). CONCLUSIONS: Various mammographic findings are differently associated with age group, breast composition, and tumour size.

Cystathionine ß-synthase-derived hydrogen sulfide is involved in human malignant hyperthermia.

Hydrogen sulfide is an endogenous gasotransmitter and its mechanism of action involves activation of ATP-sensitive K(+) channels and phosphodiesterase inhibition. As both mechanisms are potentially involved in malignant hyperthermia (MH), in the present study we addressed the involvement of the L-cysteine/hydrogen sulfide pathway in MH. Skeletal muscle biopsies obtained from 25 MH-susceptible (MHS) and 56 MH-negative (MHN) individuals have been used to perform the in vitro contracture test (IVCT). Quantitative real-time PCR (qPCR) and Western blotting studies have also been performed. Hydrogen sulfide levels are measured in both tissue samples and plasma. In MHS biopsies an increase in cystathionine ß-synthase (CBS) occurs, as both mRNA and protein expression compared with MHN biopsies. Hydrogen sulfide biosynthesis is increased in MHS biopsies (0.128±0.12 compared with 0.943±0.13 nmol/mg of protein per min for MHN and MHS biopsies, respectively; P<0.01). Addition of sodium hydrosulfide (NaHS) to MHS samples evokes a response similar, in the IVCT, to that elicited by either caffeine or halothane. Incubation of MHN biopsies with NaHS, before caffeine or halothane challenge, switches an MHN to an MHS response. In conclusion we demonstrate the involvement of the L-cysteine/hydrogen sulfide pathway in MH, giving new insight into MH molecular mechanisms. This finding has potential implications for clinical care and could help to define less invasive diagnostic procedures.

Invasive ductal carcinoma mammographic findings: Correlation with age, breast composition and tumor size.

BACKGROUND/OBJECTIVE: The aim of this study was to identify the mammographic findings associated with malignancy in different age groups, taking into account breast composition (BC) and lesion size. METHODS: Preoperative mammograms of 1023 invasive ductal carcinomas were retrospectively evaluated. According to the American College of Radiology Breast Imaging Reporting and Data System, cancer mammographic findings were classified as mass, calcifications, architectural distortion and asymmetry, and breasts were assessed as non-dense (A or B BC) and dense (C or D BC). Patient cohort was subdivided into three age groups (group 1: <50 years of age; group 2: between 50 and 69; group 3: ≥70 years of age). RESULTS: Significant results of multinomial logistic regression were the association between mass and non-dense breast (p < 0.0001) and the association between mass and tumor size larger than 15 mm (p = 0.0049). CONCLUSIONS: Mass finding of invasive ductal breast carcinoma is associated with breast composition and tumor size.

Low diffusion level within a fibroadenoma as the sole sign of ductal carcinoma in situ: A case report.

We present a case of ductal carcinoma in situ within a fibroadenoma. Breast cancer arising within fibroadenoma incidence ranges from 0.125% to 0.02%, and ductal carcinoma in situ is not the most frequent malignancy that can be found within a fibroadenoma. Dynamic contrast-enhanced magnetic resonance imaging showed an oval mass with circumscribed margins and dark internal septations, suspicious for fibroadenoma. According to European Society of Breast Radiology diffusion-weighted imaging consensus, mean apparent diffusion coefficient value obtained by drawing a small region of interest on the lesion apparent diffusion coefficient map showed a low diffusion level. Therefore, ductal carcinoma in situ within a fibroadenoma was diagnosed at final pathology after surgical excision.

Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.

BACKGROUND: Malignant hyperthermia (MH) is a fatal autosomal dominant pharmacogenetic disorder characterized by skeletal muscle hypertonicity that causes a sudden increase in body temperature after exposure to common anesthetic agents. The disease is genetically heterogeneous, with mutations in the gene encoding the skeletal muscle ryanodine receptor (RYR1) at 19q13.1 accounting for up to 80% of the cases. To date, at least 42 RYR1 mutations have been described that cause MH and/or central core disease. Because the RYR1 gene is huge, containing 106 exons, molecular tests have focused on the regions that are more frequently mutated. Thus the causative defect has been identified in only a fraction of families as linked to chromosome 19q, whereas in others it remains undetected. METHODS: We used denaturing HPLC (DHPLC) to analyze the RYR1 gene. We set up conditions to scan the 27 exons to identify both known and unknown mutations in critical regions of the protein. For each exon, we analyzed members from 52 families with positive in vitro contracture test results, but without preliminary selection by linkage analysis. RESULTS: We identified seven different mutations in 11 MH families. Among them, three were novel MH alleles: Arg44Cys, Arg533Cys, and Val2117Leu. CONCLUSION: Because of its sensitivity and speed, DHPLC could be the method of choice for the detection of unknown mutations in the RYR1 gene.