K Kovacheva
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View article: Autosomal recessive type of dystrophic epidermolysis bullosa with a novel variant in the COL7A1 gene
Autosomal recessive type of dystrophic epidermolysis bullosa with a novel variant in the COL7A1 gene Open
Epidermolysis bullosa (EB) is an inherited skin condition whose hallmark is skin fragility caused by minimal trauma or friction. The dystrophic type of EB (DEB), accounting for 30% of all cases, is caused by mutations in the gene encoding …
View article: Netherton Syndrome with a Novel Likely Pathogenic Variant c.420del (p.Ser141ProfsTer5) in SPINK5 Gene: A Case Report
Netherton Syndrome with a Novel Likely Pathogenic Variant c.420del (p.Ser141ProfsTer5) in SPINK5 Gene: A Case Report Open
Introduction: Netherton syndrome (NS) is a rare autosomal recessive genodermatosis in the group of congenital ichthyosis. The clinical manifestations of the syndrome vary from a very mild clinical manifestation occurring with the picture o…
View article: Genetic predisposition in female patients with triple‑negative breast cancer
Genetic predisposition in female patients with triple‑negative breast cancer Open
Triple‑negative breast cancer (TNBC) is an immunohistochemical tumor type characterized by the absence of estrogen, progesterone and human epidermal growth factor receptors. Its complexity renders it difficult to select an effective therap…
View article: Title of the manuscript: Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer
Title of the manuscript: Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer Open
Background: Synchronous endometrial and ovarian cancer (SEOC) accounts for 50-70% of all synchronous gynecology cancers in women. Approximately 14% of SEOC cases are caused by Lynch syndrome (LS). The widespread introduction of "universal …
View article: Familial Lynch syndrome with early age of onset and confirmed splice site mutation in MSH2: A case report
Familial Lynch syndrome with early age of onset and confirmed splice site mutation in MSH2: A case report Open
Lynch syndrome (LS) is an autosomal dominant cancer syndrome. It can be caused by mutations of several genes, including MLH1, MSH2, MSH6, PMS2, MLH3 and MSH3, which are responsible for DNA mismatch repair, and LS affects 3-5% of patients w…
View article: Carrier Screening for Single-Gene Disorders – A Brief Review
Carrier Screening for Single-Gene Disorders – A Brief Review Open
Summary Carrier screening (CS) is an approach to pre-reproductive identification of couples at risk of having offspring with a single-gene disorder (SGD). The goal of CS is to facilitate reproductive autonomy and informed decision-making o…
View article: Granulocytic Expression of CD11b/CD18 and Thrombotic Risk in Patients with Myeloproliferative Neoplasms
Granulocytic Expression of CD11b/CD18 and Thrombotic Risk in Patients with Myeloproliferative Neoplasms Open
Summary Myeloproliferative neoplasms (MPN) are clonal hematological conditions characterized by excessive production of one or more cell lines in the bone marrow. The blood cells produced are often hyperactive in their functions, which cou…
View article: Impact of Factor V Leiden Polymorphism in Patients with PCOS
Impact of Factor V Leiden Polymorphism in Patients with PCOS Open
Summary The present study aimed to evaluate the impact of factor V Leiden (FVL) polymorphism within the reproductive problems encountered by patients with polycystic ovary syndrome (PCOS). A total of 92 female patients with PCOS and 101 he…
View article: A Study on the Role of Thrombophilic Genetic Disorders as a Risk Factor for Thrombotic Complications in Patients with Myeloproliferative Disorders
A Study on the Role of Thrombophilic Genetic Disorders as a Risk Factor for Thrombotic Complications in Patients with Myeloproliferative Disorders Open
Summary Myeloproliferative neoplasms (MPN) are haematological diseases, characterized by clonal hematopoiesis. Hemostasis abnormalities are among the most critical and frequent complications, affecting the quality of life and a possible re…
View article: Prevalence of Five BRCA1/2 Mutations in Bulgarian Breast Cancer Patients
Prevalence of Five BRCA1/2 Mutations in Bulgarian Breast Cancer Patients Open
Summary Detection of mutations in breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene is an effective method of early diagnosis and prevention of breast cancer (BC). The mutational spectrum of both genes in Bulgarian population has no…
View article: CHROMOSOMAL ABNORMALITIES AND Y CHROMOSOME MICRODELETIONS IN BULGARIAN MALE WITH AZOOSPERMIA OR SEVERE OLIGOSPERMIA
CHROMOSOMAL ABNORMALITIES AND Y CHROMOSOME MICRODELETIONS IN BULGARIAN MALE WITH AZOOSPERMIA OR SEVERE OLIGOSPERMIA Open
Male infertility is a complex disease, and genetic abnormalities are among the main causal factors for the disorder. Aim: In order to evaluate the proportion of the most common genetic factors in etiology of male infertility, examination f…
View article: Fetuin-A – Alpha2-Heremans-Schmid Glycoprotein: From Structure to a Novel Marker of Chronic Diseases Part 2. Fetuin-A – A Marker of Insulin Resistance and Related Chronic Diseases
Fetuin-A – Alpha2-Heremans-Schmid Glycoprotein: From Structure to a Novel Marker of Chronic Diseases Part 2. Fetuin-A – A Marker of Insulin Resistance and Related Chronic Diseases Open
Summary Fetuin-A is a secretory liver glycoprotein with multiple physiological functions such as regulation of insulin resistance, tissue calcification, bone metabolism, cellular proteolytic activity, and self-proliferative signaling. Fetu…
View article: Pfeiffer syndrome type 2 – two cases from the Pleven Registry of Congenital Anomalies
Pfeiffer syndrome type 2 – two cases from the Pleven Registry of Congenital Anomalies Open
Pfeiff er syndrome is a rare autosomal dominant congenital disorder with the main features of acrocephalic skull, midfacial hypoplasia,syndactyly of hands and feet, broad thumbs and big toes. Three clinical subtypes (with diff erent diagno…
View article: Preliminary Data from a Study on Polymorphism RS4244285 of P4502c19 Cytochrome Gene in Patients with Acute Coronary Syndrome, Undergoing Treatment with Dual Antiplatelet Therapy With Clopidogrel and Aspirin
Preliminary Data from a Study on Polymorphism RS4244285 of P4502c19 Cytochrome Gene in Patients with Acute Coronary Syndrome, Undergoing Treatment with Dual Antiplatelet Therapy With Clopidogrel and Aspirin Open
Summary Administration of antiplatelet therapy Aspirin and Clopidogrel (CLP) is a corner stone inpatients with Acute Coronary Syndrome (ACS) undergoing Percutaneous Coronary Intervention (PCI) with/without stent implantation. The CYP2C19*2…