Dopa-responsive dystonia in Bulgarian patients: report of three cases.

Dopa-responsive dystonia (DRD) comprises a group of rare autosomal inherited neurotransmitter disorders characterized with childhood or adulthood onset. We report three cases of DRD. Two boys (1.

A Case of Mody 2 - Associated Hyperglycemia Diagnosed as Gestational Diabetes.

Maturity-onset diabetes of the young (MODY) is the most common monogenic form of diabetes, accounting for 1-2% of all diabetes cases. At least 14 different MODY subtypes have been identified the most common of which is MODY 2 caused by mutations in the glucokinase () gene. The mild hyperglycemia of MODY 2 is often first detected during pregnancy.

Restriction of the Global IgM Repertoire in Antiphospholipid Syndrome.

The typical anti-phospholipid antibodies (APLA) in the anti-phospholipid syndrome (APS) are reactive with the phospholipid-binding protein β2GPI as well as a growing list of other protein targets. The relation of APLA to natural antibodies and the fuzzy set of autoantigens involved provoked us to study the changes in the IgM repertoire in APS. To this end, peptides selected by serum IgM from a 7-residue linear peptide phage display library (PDL) were deep sequenced.

Clinical impact of copy number variation changes in bladder cancer samples.

The aim of the present study was to detect copy number variations (CNVs) related to tumour progression and metastasis of urothelial carcinoma through whole-genome scanning. A total of 30 bladder cancer samples staged from pTa to pT4 were included in the study. DNA was extracted from freshly frozen tissue via standard phenol-chloroform extraction and CNV analysis was performed on two alternative platforms (CytoChip Oligo aCGH, 4x44K and Infinium OncoArray-500K BeadChip; Illumina, Inc.

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.

Rare Case of a Heterozygous Microdeletion 9q21.11-q21.2: Clinical and Genetic Characteristics.

Intellectual disability is affecting 3.0-4.0% of the general population.

Long-term follow-up of a female patient with non-classical 11β-hydroxylase deficiency and two novel mutations in CYP11B1.

11β-Hydroxylase deficiency is the second most common enzyme disorder after 21-hydroxylase deficiency causing congenital adrenal hyperplasia (CAH). In females, the clinical phenotype of CAH classic forms is associated with ambiguous genitalia, virilization and hypertension, while most common complaints in milder non-classic forms include hirsutism, acne, menstrual disturbances, and infertility. Herein, we present clinical and genetic characteristics of an adult woman with 11β-hydroxylase deficiency, hypertension and infertility; she has been followed up from her first pregnancy to her early menopause.

Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies.

Congenital anomalies affect 1% to 2% of the newborns. The urinary tract and the kidneys are involved in 4-5% of the cases while upper-extremities abnormalities are present in 10%. Certain anomalies occur in isolation, whereas others are associated with systemic conditions.

Genetic, Genomic and Epigenomic Studies of Balkan Endemic Nephropathy (Ben).

BEN is a primary, chronic tubulointerstitial nephritis characterized with chronic anemia, absence of edema, xantoderma, normal blood pressure and normal findings on the fundus oculi. The disease is distributed in restricted areas in Bulgaria, Romania, Croatia, Bosnia, Former Yugoslavia. Despite numerous studies on genetic and environmental factors and their possible involvement in BEN, its etiopathogenesis still remains elusive.

NGS nominated CELA1, HSPG2, and KCNK5 as candidate genes for predisposition to Balkan endemic nephropathy.

Balkan endemic nephropathy (BEN) is a familial chronic tubulointerstitial disease with insidious onset and slow progression leading to terminal renal failure. The results of molecular biological investigations propose that BEN is a multifactorial disease with genetic predisposition to environmental risk agents. Exome sequencing of 22 000 genes with Illumina Nextera Exome Enrichment Kit was performed on 22 DNA samples (11 Bulgarian patients and 11 Serbian patients).

Next-generation sequencing of and in breast cancer patients and control subjects.

Breast cancer is currently the most common type of cancer in females. The majority of the hereditary forms of breast cancer are caused by mutations in the and genes, whose main function is the DNA repair of double-strand breaks. Genetic testing of females with a family history of breast cancer is recommended to determine their hereditary predisposition for this type of cancer.

[The characteristics of glucose tolerance in obesity].

In 151 obese patients an oral glucose tolerance test was carried out. In 118 patients (mean relative body mass 161.5 +/- 39%) the test was normal.

[The Stein-Leventhal syndrome with obesity].

The authors carried out studies on 28 women with the syndrome of Stein-Leventhal with obesity. It was established that patients with hypothalamic genuine obesity of III degree predominated. The number of patients with liver steatosis was the largest among accompanying metabolic disturbances, followed by those with arterial hypertension and asymptomatic hyperuricemia.

[Late complications in patients having undergone a gastric resection].

A total of 37 patients who had undergone partial gastrectomy for duodenal or gastric ulcers, were investigated. The postoperative periods ranged from 5 to 28 years. All the patients were subjected to comprehensive clinical and neurologic examinations.

[Indications for and the therapeutic action of hypolipidemic agents in patients with hyperlipoproteinemias].

Seventy three patients with hyperlipoproteinemia (HLP) type II and IV were divided into three groups and treated with different pharmaceuticals. The first group was treated with 300 mg Radecol daily, the second--with 750 mg Probucol and the third--with 600 mg Bezalip. Best results in the patients with HLP, type II A, as regards the effect on total cholesterol were obtained in those treated with Probucol, in type II B the results from the treatment with Radecol and Probucol are similar.

[Clinical research on the hypolipidemic action of a probucol preparation].

Probucol is a drug with hypolipidemic effect from the group of diphenols. The preparation has been administered to 33 patients with hyperlipoproteinemia--15 with type IIA, 17--with IIB and 1--with type III, in a dose of 750 mg for 28 days. The following serum indices were studied: total cholesterol (TCh), cholesterol in lipoproteins with high density (Ch-HDL), triglycerides (Tg), percentage of free cholesterol FCh) and ester cholesterol (ECh) in HDL and lipid-acid composition of ECh in HDL and lipoproteins with low density (LDL).

[Treatment of patients with the Pickwickian syndrome by reduction of body weight].

The characteristic signs of Pickwickian syndrome are the high degree of obesity and cardiovascular and respiratory insufficiency, to various degrees. Forty five patients with Pickwickian syndrome were treated at the Clinic of Metabolic Diseases. They represent 3.

Weight-reducing diets.

No single diet exists for the treatment of obesity. On the contrary, a variety of diet regimes should be taken in consideration in this disease. Even a normoenergic diet can produce the desired reduction of overweight if it is combined with physical exercise.

[High-density lipoprotein cholesterol and the atherogenic index in patients with different types of hyperlipoproteinemias].

A total of 180 subjects (82 males and 98 females), aged from 20 to 60 were examined. Sixty four of them (29 males and 35 females) were regular blood donors (control group) and 116 subjects (53 males and 63 females) - with huperlipoproteinemias: type IIa - 50 subjects (17 males and 33 females), type IIb - 37 (23 males and 14 females) and type IV - 29 (13 males and 16 females). Triglycerides, total cholesterol and cholesterol in lipoproteins with high density (Ch-HDLP) were also determined.

[Diet with maximum restriction of caloric intake in diabetes mellitus and obesity].

To a group of 40 diabetic patients and obesity, a treatment was conducted by dietetic regimen of maximum restriction of the daily calories, from 3352 to 5028 kilojoules (800 to 1200 kilocal) according to obesity degree. Prior to treatment, only 10 per cent of the patients were with compensated diabetes. The treatment in 10 per cent of them was only a diet and in 5 per cent--insulin and in 85 per cent--peroral drugs.