Influence of homocysteine and its major genetic and nutritional determinants on bone mineral density.

INTRODUCTION: A potential role of hyperhomocysteinemia in bone metabolism has been considered from the observation of high prevalence of osteoporosis in subjects with homocystinuria about 50 years ago. AIM: To examine the association of homocysteine level and its determinants Methylenetetrahydrofolate Reductase [MTHFR] C677T Polymorphism, folates and vitamin B12 levels with bone mineral density [BMD] and the prevalence of vertebral fractures [VF] on postmenopausal women. METHODS: Through a cross-sectional study, one hundred and twenty-two healthy postmenopausal women gave their informed consent to participate in this study. Women were recruited through advertisements and mouth to ear between January 2017 and May 2017. One serum tube and one EDTA tube were collected from fasting patients. Bone mineral density was determined by a Lunar Prodigy® Vision DXA system®. Vertebral fracture [VF] assessment image was inspected visually by 2 clinicians. RESULTS: We found that a high level of homocysteine and low vitamin B12 and folate levels are not associated with bone mineral density and are not risk factors for VF in healthy postmenopausal women. Whereas, the presence of VF was associated with the number of years since menopause and with the osteocalcin levels. CONCLUSION: The MTHFR C677T polymorphism, the high levels of HCY, or low levels of folate and vitamin B12 would not be risk factors for osteoporosis and VF in healthy postmenopausal women.

LungCARD - Report on worldwide research and clinical practices related to lung cancer.

PURPOSE: The management of advanced lung cancer has evolved tremendously over the past two decades. Increasing understanding of the molecular changes that drive tumor progression has transformed the treatment of this disease. Nevertheless, various countries differ in the degree of implementation of genetic tests and the availability of innovative drugs. The LungCARD consortium created a questionnaire to collect information about the local research and clinical practices related to lung cancer diagnosis and therapy. METHODS: A survey composed of 37 questions related to specific lung cancer pharmacogenomics and therapy, was distributed among 18 countries. RESULTS: All together 36 responses were gathered, answered mainly by clinicians. The majority attends 50-200 cancer cases per month, 20-50% of all cancer cases are lung cancer patients, and more than 80% are with non-small-cell lung cancer (NSCLC). Targeted therapy is applied to 50% on average of all NSCLC patients. Forty five percent of participating medical oncologists are treating their patients with immunotherapy. More than 90% of the respondents are guided by results of genetic tests in introducing targeted treatment. As expected, the majority orders EGFR gene testing (85%), followed by ALK (58%) and KRAS testing (32%). Almost all (96%) agreed that more biomarkers should be included in routine genetic testing (ROS1, anti-PDL1, KRAS, MET, HER2, BRAF...), and that blood test is useful in pharmacogenomic testing. CONCLUSION: There is a great variation between countries with respect to all discussed topics. However, the majority recognized a necessity of introducing next generation sequencing (NGS)-based diagnostics and potential of testing from blood. The biggest problem in the treatment of NSCLC is still an access to innovative drugs.

[Reccurent pregnancy loss and 20210GA prothrombin mutation]. / Fausses couches à répétition et mutation 20210GA de la prothrombine.

Prothrombin mutation, in the same way as the factor V Leiden, is a thrombophilic state susceptible to induce both thrombosis and repetition of miscarriages at pregnancy woman. We report a case of 36 year-old woman who presented two miscarriages leaded to thrombophily state diagnosis by prothrombin mutation and among which two last pregnancies were led to their term thanks to anticoagulation.

Clinical and molecular characterization of colorectal cancer in young Moroccan patients.

BACKGROUND/AIMS: Early-onset colorectal cancers are relatively rare. About 20% of colorectal cancers are familial or hereditary. Two autosomal dominantly inherited cancer syndromes are more studied: Lynch syndrome accounts for 2-5% of colorectal cancers and familial adenomatous polyposis represents 1% of total colorectal cancers. Unlike the familial adenomatous polyposis syndrome, there are no clinical features that help in easily recognizing Lynch syndrome. The young age of cancer occurrence could be a criterion that should raise a suspicion of Lynch syndrome. In Morocco, the average age at diagnosis of colorectal cancers according to the register of cancers of Casablanca is 56 years, which is 10 years earlier than in European countries. Our study aimed to assess the frequency and molecular characteristics of the Lynch syndrome in Moroccan early-onset colorectal cancers patients. MATERIALS AND METHODS: The population analyzed included 70 patients. The criteria for inclusion of patients in this study were a colorectal cancers before age 50 and the exclusion of familial adenomatous polyposis. We started by searching for microsatellite instability, first by immunohistochemistry of 3 mismatch repair proteins (MLH1, MSH2 and MSH6) and with second confirmation using 4 monomorphic markers (BAT25, BAT26, NR21, and CAT25). RESULTS: We found instability in 10/70 (15%) of the cases. The loss of expression affects more often the MLH1 protein, with 8 cases, versus 2 cases of altered MSH2. None of the 70 patients of the series fulfilled the Amsterdam II criteria, indicative of Lynch syndrome. CONCLUSIONS: Further work needs to be done to discriminate hereditary cases from sporadic ones, but testing for microsatellite instability as a first step is important.