Good clinical response following Ibrutinib treatment of a rare case of lymphoplasmacytic lymphoma secreting IgA kappa paraprotein: A case report.

Lymphoplasmacytic lymphoma (LPL) is a malignant proliferation of small lymphocytes, lymphoplasmocytoid cells and plasmocytes affecting the bone marrow, lymph nodes and spleen. Its incidence is 1/100,000 and represents 8% of all lymphomas. A total of ~5% of patients with LPL may secrete non-IgM of IgG, IgA, kappa or lambda type or be non-secretory.

Hysteroscopy and female infertility: a fresh look to a busy corner.

Hysteroscopy has evolved from the traditional art of examining the uterine cavity for diagnostic purposes to an invaluable modality to concomitantly diagnose and (see and) treat a multitude of intrauterine pathologies, especially in the field and clinics specialising in female reproduction. This article reviews the literature on the most common cervical, endometrial, uterine and tubal pathologies such as chronic endometritis, endometrial polyps, adenomyosis, endometriosis, endometrial atrophy, adhesions, endometrial hyperplasia, cancer, and uterine malformations. The aim is to determine the efficiency of hysteroscopy compared with other available techniques as a diagnostic and treatment tool and its association with the success of in vitro fertilisation procedures.

Unbalanced human embryos secrete more hyperglycosylated human chorionic gonadotrophin (hCG-H) than balanced ones.

Purpose: The aim of this study was to compare the levels of hyperglycosylated human chorionic gonadotropin (hCG-H) secreted from balanced and unbalanced human embryos.

Methods: Single-step culture media samples from 155 good quality embryos, derived from 90 good prognosis patients undergoing intracytoplasmic sperm injection (ICSI), were collected on the fifth day of embryo cultivation. All embryos were tested by next-generation sequencing (NGS) technique.

Centenarian Exomes as a Tool for Evaluating the Clinical Relevance of Germline Tumor Suppressor Mutations.

Objectives: The aim of the present study was to evaluate the clinical relevance of mutations in tumor suppressor genes using whole-exome sequencing data from centenarians and young healthy individuals.

Methods: Two pools, one of centenarians and one of young individuals, were constructed and whole-exome sequencing was performed. We examined the whole-exome sequencing data of Bulgarian individuals for carriership of tumor suppressor gene variants.

Philadelphia-positive case negative for JAK2 V617F mutation with hyperdiploidic karyotype: A case report.

Chronic myeloid leukemia (CML) is one of the most common hematological malignancies and accounts for 15-20% of all leukemia cases. The cytogenetic marker of CML is the presence of Philadelphia chromosome (Ph) in >95% of patients. The current case reports a 83-year old woman who was directed to the genetic laboratory for a cytogenetic and molecular-genetic analysis suspected to be Ph positive [(+)].

Familial Papillary Thyroid Carcinoma (FPTC): a Retrospective Analysis in a Sample of the Bulgarian Population for a 10-Year Period.

In recent years, there are numerous reports indicating the presence of familial papillary carcinoma. Unfortunately, no genetic defect can be linked directly to the disease. In this study, we set the goal to make a retrospective analysis of the cases with papillary carcinoma in the Department of Endocrine Surgery for the past 10 years, to compare the characteristics of sporadic and familial forms of the disease and to find families with hereditary papillary carcinoma.

Gene expression in peripheral blood of patients with hypertension and patients with type 2 diabetes.

Aim: To evaluate the expression of atherosclerosis-associated genes in patients with hypertension and type 2 diabetes mellitus.

Material And Methods: Twenty-seven patients (14 men, 13 women), mean age 43.26 ± 11.

Expression analysis of angiogenesis-related genes in Bulgarian patients with early-stage non-small cell lung cancer.

Aims And Background: Angiogenesis is a key process in the early stages of tumor development. In this study we aimed to evaluate the expression of a panel of angiogenesis-related genes in a group of Bulgarian patients with early-stage non-small cell lung cancer (NSCLC).

Methods And Study Design: We analyzed the expression of 84 genes associated with the angiogenic process in 12 NSCLCs of two histological subtypes: 7 adenocarcinomas and 5 squamous cell carcinomas.

Genome-wide gene expression profiles of ovarian carcinoma: Identification of molecular targets for the treatment of ovarian carcinoma.

This study aimed to clarify the molecular mechanisms involved in ovarian carcinogenesis, and to identify candidate molecular targets for its diagnosis and treatment. The genome-wide gene expression profiles of 22 epithelial ovarian carcinomas were analyzed with a microarray representing 38,500 genes, in combination with laser microbeam microdissection. A total of 273 commonly up-regulated transcripts and 387 down-regulated transcripts were identified in the ovarian carcinoma samples.

Genome-wide gene expression profiles of thyroid carcinoma: Identification of molecular targets for treatment of thyroid carcinoma.

In order to clarify the molecular mechanism involved in thyroid carcinogenesis and to identify candidate molecular targets for diagnosis and treatment, we analyzed genome-wide gene expression profiles of 18 papillary thyroid carcinomas with a microarray representing 38,500 genes in combination with laser microbeam microdissection. We identified 243 transcripts that were commonly up-regulated and 138 transcripts that were down-regulated in thyroid carcinoma. Among these 243 transcripts identified, only 71 transcripts were reported as up-regulated genes in previous microarray studies, in which bulk cancer tissues and normal thyroid tissues were used for the analysis.