Mild Congenital Hyperinsulinism Caused by Mutation in Human Gene.

Congenital hyperinsulinism (CHI) is a rare hereditary disease characterized by the development of hypoglycemia in both infants and adult patients. CHI may be induced by activating mutations in the () gene, which encodes the human glucokinase enzyme. This form of the disease is characterized by considerable phenotypic heterogeneity and may vary in severity of its course.

[Primary Generalized Glucocorticoid Resistance: a case report].

Primary glucocorticoid resistance (OMIM 615962) is a rare endocrinologic condition caused by resistance of the human glucocorticoid receptor (hGR) to glucocorticoids (GR) and characterised by general or partial insensitivity of target organs to GK. Compensatory activation of hypothalamic-pituitary-andrenal axis results in development of a various pathological conditions caused by overstimulation of adrenal glands. Clinical spectrum may range from asymptomatic cases to severe cases of mineralocorticoid and/or androgen excess.

[Prepubertal gynecomastia at the debut of hereditary tumors predisposition syndrome (clinical case reports)].

Peutz-Jeghers Syndrome (Peutz-Jeghers Syndrome, PJS) refers to syndromes of hereditary tumor predisposition and is caused by pathological variants of the STK11 gene, leading to a defect in the synthesis of serine/threonine kinase 11 protein, which acts as a tumor suppressor.Clinical symptoms of the syndrome are combination of hamartomatous polyposis of the gastrointestinal tract and specific skin-mucosal hyperpigmentation. Also, this disease is characterized by a high risk of developing gastrointestinal and extra-intestinal tumors, including benign or malignant tumors of the reproductive system.

Diagnostic Accuracy of Methods for Detection of Antibodies against Type I Interferons in Patients with Endocrine Disorders.

Autoantibodies against type 1 interferons (IFN-I) are a highly specific marker for type 1 autoimmune polyglandular syndrome (APS-1). Moreover, determination of antibodies to omega-interferon (IFN-ω) and alpha2-interferon (IFN-α2) allows a short-term diagnosis in patients with isolated and atypical forms of APS-1. In this study, a comparison of three different methods, namely multiplex microarray-based, cell-based and enzyme-linked immunosorbent assays for detection of antibodies against omega-interferon and alpha2-interferon, was carried out.

Comprehensive approach to diagnostic cytology in endometrial pathology (review of literature).

A cytological examination of uterine cavity material has proven to be the effective method of detecting and clarifying the diagnosis of cancer and non-tumor endometrial diseases. However, sometimes there are difficulties in interpreting the results in a traditional (classical) cytological examination, due to high level of inadequate samples: the presence of mucus, a large number of blood elements, structures of poorly visible cells in the wrong preparation of the smear. At present, the method of liquid cytology, based on the technology of preparation of standard thin-layer cytological preparations from liquid cell suspension, is increasingly developed and widespread.

[Assessment of autoantibodies against 21-hydroxylase in the diagnosis of primary autoimmune adrenal insufficiency].

Primary adrenal insufficiency is manifested by a deficiency of adrenal cortex hormones and can lead to a life-threatening condition. Early diagnosis is key to patient survival. Auto-antibodies to one of the adrenal steroidogenesis enzymes, 21-hydroxylase, are an immunological marker of autoimmune adrenal insufficiency.

[Clinical case report: history of diagnosis and clinical features of type autoimmune polyglandular syndrome 1].

Autoimmune polyglandular syndrome type 1 (APS-1) is a rare disease with autosomal recessive inheritance and it caused by mutations in the autoimmune regulator (AIRE) gene. This disease has clinical polymorphism that including besides endocrinopathies other organ-specific manifestations and that complicates to diagnose of this condition on time. However, most often APS-1 has a characteristic debut and a certain stage of clinical symptom manifestation.

Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.

Context: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene and characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. Comprehensive characterizations of large patient cohorts are rare.

Objective: To perform an extensive clinical, immunological, and genetic characterization of a large nationwide Russian APS-1 cohort.

[SPECIFIC CLINICAL FEATURES OF TYPE 1 AUTOIMMUNE POLYGLANDULAR SYNDROME].

Autoimmune polyglandular syndrome is a primary autoimmune disorder affecting two or more peripheral endocrine glands and responsible for their incompetence. It is frequently combined with various organ-specific non-endocrine diseases. Patients with this pathology need life-long replacement therapy and dynamic observation by endocrinologists and other specialists to monitor the effectiveness of the treatment and detect new components of the disease.

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.

The autoimmune regulator (AIRE) gene is crucial for establishing central immunological tolerance and preventing autoimmunity. Mutations in AIRE cause a rare autosomal-recessive disease, autoimmune polyendocrine syndrome type 1 (APS-1), distinguished by multi-organ autoimmunity. We have identified multiple cases and families with mono-allelic mutations in the first plant homeodomain (PHD1) zinc finger of AIRE that followed dominant inheritance, typically characterized by later onset, milder phenotypes, and reduced penetrance compared to classical APS-1.

Epidemiological, clinical and viral determinants of the increased prevalence of high-risk human papillomavirus (HPV) infections in elderly women.

Background: Population-based studies have reported a second peak of human papillomavirus (HPV) prevalence among women > 55 years, but reasons for this U-shaped HPV prevalence curve are poorly understood.

Objectives: To analyse determinants of high-risk HPV (HR-HPV) infections among postmenopausal women.

Study Design And Methods: A cohort of 3,187 women was stratified into three age categories: i) youngest age group < 25 years (n = 1.

Age at menarche is not an independent risk factor for high-risk human papillomavirus infections and cervical intraepithelial neoplasia.

Data are controversial as to the role of menarche age as a risk factor of high-risk human papillomavirus (HR-HPV) infections. The objective of this study was to analyse the risk estimates for age at menarche as determinant of cervical intraepithelial neoplasia (CIN) and HR-HPV infections. A cohort of 3187 women were stratified into three groups according to their age at menarche: (i) women <13 years of age; (ii) those between 13 and 14 years and (iii) women >15 years of age.

Smoking is an independent risk factor for oncogenic human papillomavirus (HPV) infections but not for high-grade CIN.

Background: Recent evidence implicates smoking as a risk factor for cervical cancer (CC), but the confounding from high-risk human papillomavirus (HPV) infections is not clear.

Objectives: To analyse the role of smoking as an independent predictor of CIN2+ and HR-HPV infections in a population-based prospective (NIS, New Independent States of former Soviet Union) cohort study.

Study Design And Methods: A cohort of 3,187 women was stratified into three groups according to their smoking status: (i) women who never smoked; (ii) those smoking in the past; and (iii) women who are current smokers.

Oral contraceptives are not an independent risk factor for cervical intraepithelial neoplasia or high-risk human papillomavirus infections.

Background: Oral contraception (OC) has been proclaimed by the IARC as a risk factor of cervical cancer (CC), on prolonged use by high-risk human papillomavirus (HPV) positive women. However, the available data are far from complete, and more evidence is necessary on the potential confounding effects of sexual behavior and HPV infection. The aim of the present was study to analyse the risk estimates for OC users in order to develop several intermediate end-point markers in cervical carcinogenesis.

Human papillomavirus testing and conventional pap smear cytology as optional screening tools of women at different risks for cervical cancer in the countries of the former soviet union.

Objectives: Human papillomavirus (HPV) infection is a sexually transmitted disease (STD) and the single most important etiological agent of cervical cancer. In parallel with the increase of STDs and because of the lack of any organized cancer screening in the new independent states of the former Soviet Union, the incidence and mortality rates of cervical cancer are rapidly rising. This is the first report from an ongoing European Commission-funded (INCO-Copernicus Program) cross-sectional and cohort study (focused on the key issues of this major health problem in the new independent states) analyzing the performance of the HPV DNA (Hybrid Capture II) test as a potential screening tool for cervical cancer in these countries.

Factors predicting persistence of high-risk human papillomavirus (HPV) infections in women prospectively followed-up in three New Independent States (NIS) of the former Soviet Union.

Background: We completed an analysis of the factors predicting the persistence of high risk (HR) HPV infections in women participating in a multicenter screening trial in three NIS countries.

Methods: The 543 baseline HR HPV-positive women included in this analysis are derived from a sub-cohort of 887 women who were prospectively followed-up for a mean of 21.6 months (range: 0.

Clearance of high-risk human papillomavirus (HPV) DNA and PAP smear abnormalities in a cohort of women subjected to HPV screening in the New Independent States of the former Soviet Union (the NIS cohort study).

Background: We analysed the temporal relationships of the clearance of human papillomavirus (HPV) DNA and cytological abnormalities in women participating in a screening study in three NIS countries.

Methods: The 274 patients included in this analysis were prospectively followed-up for 21.6 months (range: 0.

Acquisition of high-risk human papillomavirus infections and pap smear abnormalities among women in the New Independent States of the Former Soviet Union.

The rates of acquisition and the times of incident high-risk (HR) human papillomavirus (HPV) infections and Pap smear abnormalities and their predictive factors were analyzed in women participating in a multicenter screening study in three countries of the New Independent States of the former Soviet Union. The 423 patients were prospectively monitored for a mean of 21.6 months.

[Diagnosis of urogenital chlamydiosis using rapid immunoenzyme method: Abbott TestPack Chlamydia].

Twenty women suffering from chronic genital inflammations were screened for urogenital chlamydiosis using Abbott Testpack Chlamydia kit for enzyme immunoassay (EIA) and NIARmedik Chlamoscan kit for immunofluorescent method. The cells were scraped off from the cervical canal during the second phase of the cycle. In addition, smears were taken from the vagina and cervical canal to be screened for microflora using Romanowsky-Giemsa staining.