Клинические и методологические аспекты кожной лимфомы T/NK

Simpozion Naţional de Oncologie cu participare internaţională „Vigilenţa oncologică în activitatea medicală, depistarea precoce şi tratamentul tumorilor” dedicat aniversării de 40 ani de activitate a Catedrei de Oncologie, Hematologie şi Radioterapie a USMF “N. Testemiţanu”, catedra Oncologie, hematologie şi radioterapie al USMF „Nicolae Testemiţanu”, DMDV , Republica MoldovaSummary. Primary cutaneous lymphomas morbidity (PCL) increases with age, reaching the highest level in people aged over 60 years, amid immunosuppression. Malignant lymphomas arise from degeneration of lymphocytes, cells whose key role is immunity. Within the group consisting of PCL, three categories can be distinguished: cutaneous T-cell lymphoma (CTCL) representing 42.6%, cutaneous B-cell lymphoma (CBCL) - 32.1% and histiocytic lymphoma - 25.3%. Due to histological variability, cutaneous lymphomas clinically have polymorphic pathological manifestations, such as patches or plaques of different shades, nodule, bubbles, papules, pustules, dyshidrotic rashes, erythroderma etc. There are also some tumor types where lesions may become extensive, aggressive, can affect the lymph nodes and other organs, with a low cure rate. Diagnosis of lymphoma is a very difficult process. This can be done only by combining the clinical, histological, immunophenotypic arguments and genotypic evolution. The treatment depends on the stage of the cutaneous cancer. Thus, in the early stages forefront options include assigning a systemic therapy with interferon alfa or acitretin, retinoids and rexinoids with PUVA therapy, while in advanced stages chemotherapy combination with bexarotene, denileukin difitov, interferon ɑ2a, alemtuzumab or methotrexate in low doses are used. It is very important to create a team of specialists (oncologist, dermatologist, family physician and clinician pharmacist) to conduct effective individualized treatment regimens by monitoring the state of patients with cutaneous lymphomas.Резюме: Заболеваемость первичной кожной лимфомой (LPC) увеличивается с возрастом, достигая самого высокого уровня у людей в возрасте старше 60 лет, на фоне иммуносупрессии. Злокачественные лимфомы возникают из перерождения клеток лимфоцитов, которые играют ключевую роль в иммунитете. В группе, состоящей из LPC три категории можно выделить следующие кожные заболеваемости: кожная Т-клеточная лимфома (LCCT), представляющий 42,6%, кожная В-клеточная лимфома (LCCB) - 32,1% и гистиоцитарной лимфомы - 25,3%. Из-за изменчивости гистологической картины лимфом кожи клинически полиморфный в патологических проявлений, таких как пятна или бляшки разных оттенков, узелки, пузыри, папулы, пустулы, сыпь, эритремий и т.д. Есть также меньше типов опухолей, где повреждения могут стать обширным, агрессивными, могут повлиять на лимфатические узлы и другие органы. Диагноз лимфомы является очень сложным процессом. Это может быть сделано только путем объединения клинических аргументов, гистологических, иммунофенотипических и генотипической эволюции. Лечение зависит от стадии рака кожи. Таким образом, на ранних стадиях варианты включают в себя передний план назначения системной терапии с интерфероном альфа или ацитретина, ретиноиды и сПУВА терапии, в то время как в более поздних стадиях включают комбинации химиотерапии с Bexarotene, Denileukin difitov, интерферон ɑ2a, алемтузумаб или метотрексат в низкие дозы. Это требует значительной важности создания группы специалистов (онколог, дерматолог, семейный врач и фармацевт клинициста) для проведения эффективных схем лечения с индивидуализированными опухолевым мониторингом состояния пациентов с лимфомом кожи на всю жизнь

Эффективность и переносимость тербиназина пациентами с онихомикозом

Catedra Farmacologie şi Farmacie Clinică, USMF „Nicolae Testemiţanu”, Dispensarul Municipal Dermatovenerologic, Compania Universal-FarmThe study presents the results of a study of the efficacy and tolerance of Terbinazine on 40 patients with onychomycosis. Given the high percentage of clinical and mycological success in the treatment of dermatophytic onycomycosis with Terbinazine, the increased compliance of the patient, and its very low risk, make Terbinazine the first option in treating dermatophytic onychomycosis.Авторами представлены результаты эффективности и переносимости тербизина. Исследование проведено на 40 больных с онихомикозом. Отмечено, что тербиназин, наряду с высоким клиническим эффектом, легко переносится больными. Полученные авторами результаты свидетельствуют о том, что тербиназин является препаратом выбора в лечении дерматофитных онихомикозов

Detection of regulator genes and eQTLs in gene networks

Genetic differences between individuals associated to quantitative phenotypic traits, including disease states, are usually found in non-coding genomic regions. These genetic variants are often also associated to differences in expression levels of nearby genes (they are "expression quantitative trait loci" or eQTLs for short) and presumably play a gene regulatory role, affecting the status of molecular networks of interacting genes, proteins and metabolites. Computational systems biology approaches to reconstruct causal gene networks from large-scale omics data have therefore become essential to understand the structure of networks controlled by eQTLs together with other regulatory genes, and to generate detailed hypotheses about the molecular mechanisms that lead from genotype to phenotype. Here we review the main analytical methods and softwares to identify eQTLs and their associated genes, to reconstruct co-expression networks and modules, to reconstruct causal Bayesian gene and module networks, and to validate predicted networks in silico.Comment: minor revision with typos corrected; review article; 24 pages, 2 figure

Akkermansia muciniphila and improved metabolic health during a dietary intervention in obesity: relationship with gut microbiome richness and ecology

Objective: Individuals with obesity and type 2 diabetes differ from lean and healthy individuals in their abundance of certain gut microbial species and microbial gene richness. Abundance of Akkermansia muciniphila, a mucin-degrading bacterium, has been inversely associated with bodyfat mass and glucose intolerance in mice, but more evidence is needed in humans. The impact of diet and weight loss on this bacterial species is unknown. Our objective was to evaluate the association between fecal A. muciniphila abundance, fecal microbiome gene richness, diet, host characteristics, and their changes after calorie restriction (CR). Design: The intervention consisted of a 6-week CR period followed by a 6-week weight stabilization (WS) diet in overweight and obese adults (N=49, including 41 women). Fecal A. muciniphila abundance, fecal microbial gene richness, diet and bioclinical parameters were measured at baseline and after CR and WS. Results: At baseline A. muciniphila was inversely related to fasting glucose, waist-to-hip ratio, and subcutaneous adipocyte diameter. Subjects with higher gene richness and A. muciniphila abundance exhibited the healthiest metabolic status, particularly in fasting plasma glucose, plasma triglycerides and body fat distribution. Individuals with higher baseline A. muciniphila displayed greater improvement in insulin sensitivity markers and other clinical parameters after CR. A. muciniphila was associated with microbial species known to be related to health. Conclusion: A. muciniphila is associated with a healthier metabolic status and better clinicaloutcomes after CR in overweight/obese adults, however the interaction between gut microbiota ecology and A. muciniphila has to be taken into account

Comparative genetic architectures of schizophrenia in East Asian and European populations

Schizophrenia is a debilitating psychiatric disorder with approximately 1% lifetime risk globally. Large-scale schizophrenia genetic studies have reported primarily on European ancestry samples, potentially missing important biological insights. Here, we report the largest study to date of East Asian participants (22,778 schizophrenia cases and 35,362 controls), identifying 21 genome-wide-significant associations in 19 genetic loci. Common genetic variants that confer risk for schizophrenia have highly similar effects between East Asian and European ancestries (genetic correlation = 0.98 ± 0.03), indicating that the genetic basis of schizophrenia and its biology are broadly shared across populations. A fixed-effect meta-analysis including individuals from East Asian and European ancestries identified 208 significant associations in 176 genetic loci (53 novel). Trans-ancestry fine-mapping reduced the sets of candidate causal variants in 44 loci. Polygenic risk scores had reduced performance when transferred across ancestries, highlighting the importance of including sufficient samples of major ancestral groups to ensure their generalizability across populations

A multiple-phenotype imputation method for genetic studies

Genetic association studies have yielded a wealth of biologic discoveries. However, these have mostly analyzed one trait and one SNP at a time, thus failing to capture the underlying complexity of these datasets. Joint genotypephenotype analyses of complex, high-dimensional datasets represent an important way to move beyond simple GWAS with great potential. The move to high-dimensional phenotypes will raise many new statistical problems. In this paper we address the central issue of missing phenotypes in studies with any level of relatedness between samples. We propose a multiple phenotype mixed model and use a computationally efficient variational Bayesian algorithm to fit the model. On a variety of simulated and real datasets from a range of organisms and trait types, we show that our method outperforms existing state-of-the-art methods from the statistics and machine learning literature and can boost signals of associatio

Liposarcoma of the spermatic cord: Description of a clinical case,LIPOSARCOMA DEL FUNICOLO SPERMATICO: DESCRIZIONE DI UN CASO CLINICO

A case of well differentiated lipoma like and sclerosing liposarcoma in a 66 years old women is reported. The review of literature showed the rare occurrence of this neoplasia in the head and neck region especially in the floor of the mouth. C-T Scans and MRI can be helpful in addressing to the diagnosis of a fot tissue neoplasia, but only microscopic examination of a wide incisional biopsy makes the differential diagnosis from a liposarcoma possible. The elective treatment fundamental to present any relapses, as stressed in literature, is the complete removal of the lesion