Background: Spinal muscular atrophy type 3 (juvenile SMA, Kugelberg–Welander disease) is a genetic disease caused by changes in the survival motor neuron 1 (SMN) gene. However, there increasing evidence of metabolic abnormalities SMA patients, such as altered fatty acid metabolism, impaired glucose tolerance, and defects functioning muscle mitochondria. Given that data literature are scarce regarding this subject, purpose study was to estimate prevalence lipid metabolism disorders adult...

Background: Spinal muscular atrophy (SMA) is a severe neuromuscular disorder characterized by the degeneration of alpha motor neurons in spinal cord, leading to progressive proximal muscle weakness and paralysis. SMA clinically categorized into four phenotypes based on age onset function achieved. Patients with type 3 (juvenile, Kugelberg-Welander disease) initially have ability walk unaided, but experience gradual decline abilities over time. However, their lifespan not affected presence...

The aim of the study was to evaluate whether obstructive sleep apnea (OSA) contributes directly left ventricular (LV) diastolic and regional systolic dysfunction in newly diagnosed OSA with normal ventricle ejection fraction. Methods . 125 consecutive patients were prospectively enrolled study. Control group consisted 78 asymptomatic age-matched healthy subjects who did not have any cardiovascular respiratory diseases. All had undergone overnight polysomnography standard transthoracic tissue...

Premature ovarian failure (POF) is the occurrence of hypergonadotropic hypoestrogenic amenorrhea in women under age forty years. It idiopathic 74-90% patients. Known cases can be divided into primary and secondary POF. In POF genetic aberrations involve X chromosome (monosomy, trisomy, translocations, deletions) or autosomes. Genetic mechanisms include reduced gene dosage non-specific effects impairing meiosis, decreasing pool primordial follicles increasing atresia due to apoptosis follicle...

Menopause leads to the development of central adiposity, a more atherogenic lipid profile and increased incidence metabolic syndrome independent age other factors.The aim study was investigate relationships between anthropometric characteristics, sex hormones, lipids fasting glucose in menopausal women.The included 87 women, who where divided into groups according two criteria: BMI > or = 26.7 kg/m2 25 kg/m2. Anthropometric characteristics blood pressure were measured. Blood taken at 08.00 h...

To assess influence of obesity and hormone disturbances on sexuality in the menopause.The study included 73 menopausal women, who were divided into groups according to body mass index (BMI) ≥ 26.7 kg/m2. Anthropometric characteristics blood pressure measured. Blood was taken at 08:00 for hormones. All participants filled McCoy Female Sexual Questionnaire assessment sexual life.Student's t-test, correlation, analysis variance (ANOVA).Follicle-stimulating (FSH), luteinizing (LH) sex...

Atypical prenatal hormone exposure could be a factor in the development of transsexualism. There is evidence that 2nd and 4th digit ratio (2D : 4D) associates negatively with testosterone positively estrogens. The aim was to assess difference 2D 4D between female male transsexuals (FMT) (MFT) controls. We examined 42 MFT, 38 FMT, 45 control males 48 females. Precise measurements were made by X-rays at ventral surface both hands from basal crease tip using vernier calliper. Control patients...

The effect of progesterone therapy on E2/P ratio changes during the luteal phase, and its consequences are mastalgia cyst, within a fibrocystic breast disease (FBD). Fifty women with FBD were included. Information for mastodynia checked questionnaire. All had (E2) (P) concentration before 21st 24th day cycle, ultrasound measured size number cysts therapy. T-test, X2-test, McNemar test, Wilcoxon test Friedman used statistics. There was decrease relation vs. treatment p < 0.01, as well E2...

Summary Objective A high prevalence of insulin resistance (IR) has proven to manifest in patients with adrenal incidentalomas (AI). It been demonstrated that an increase IR is related the size tumourous masses; additionally, luteinizing hormone (LH)‐dependent pathologies are well documented LH‐responsive tumours occurring under conditions physiologically elevated LH. We hypothesized association between LH and might play a role tumourigenesis steroidogenesis. Design The aim our study was...

Estradiol promotes neuronal growth, transmission, survival, myelinization, plasticity, synaptogenesis, and dendritic branching it improves cognitive function. Alzheimer’s disease (AD) is characterized by amyloid plaques, neurofibrillary tangles, the loss of connection in brain. Genomic analysis has concluded that hypoestrogenism influences APOE gene increases risk AD. Premature ovarian insufficiency (POI) defined as oligo/amenorrhea women below 40 years age, low estradiol, high-gonadotropin...

Background Disrupted sleep affects cardio-metabolic and reproductive health. Obstructive apnea syndrome represents a major complication of obesity has been associated with gonadal axis activity changes lower serum testosterone concentration in men. However, there is no consistent opinion on the effect obstructive levels Objective The aim this study was to determine influence total free severely obese Materials methods included 104 (Body Mass Index (BMI) ≥ 35 kg/m 2 ) men, aged 20 60, who...

INTRODUCTION Menopause induces redistribution of fat mass and development abdominal obesity, increasing risk for metabolic syndrome (MS) by 60%. Related cardiovascular diseases become a leading cause morbidity mortality in women after fifty years age. OBJECTIVE The aim this study was to investigate the influence gaining weight on components MS menopause. METHOD included 50 obese women, BMI=31.92? 5.83 kg/m2, age 54.40?3.64, time since menopause 5.90?5.46 years, 37 normal BMI=23.50?2.13...

Hypoestrogenic status in the menopausal women shows a shift to central android fat distribution and metabolic syndrome (MIS). Related changes hypertension increase risk for cardiovascular (CV) diseases. The aim of this study was investigate influence duration menopause, anthropometric hormonal parameters on syndrome.50 obese were examined with BMI = 31.92 5.83 kg/m2, age 54.40 +/- 3.64, time since menopause 5.90 5.46 years. Control group consisted 37 normal weight 23.50 2.13 53.92 3.95, 5.96...

Monoclonal gammopathy of undetermined significance (MGUS) is an asymptomatic premalignant plasma cell disorder that characterized by the presence serum M-protein less than 30 g/L or 3 g/dL, bone marrow (BM) clonal cells 10%, absence myeloma (PCM) related end-organ damage (CRAB symptoms: hypercalcemia, renal insufficiency, anemia and, lesions) and B-cell lymphoma other disease known to produce M-protein. MGUS generally considered a preneoplastic does not always progress overt malignancy (1,...

Objective: Framingham Heart Study found increased risk of cardiovascular events that occurs after menopause. Staessen menopause is associated with elevated blood pressure (BP), left ventricular wall thickness, decreased systolic performance, and nocturnal BP fall. In the Italian population SIMONA study, a significant increase in both diastolic was more than 18 000 postmenopausal women, aged 46–59 years, compared to premenopausal perimenopausal women. A growing body evidence indicates hormone...

Objective: This study aimed to investigate the potential role of microsatellite polymorphisms estrogen receptor alpha gene (ESR1) TA repeat, beta (ESR2) CA and androgen (AR) CAG GGN repeats among Serbian women with primary ovarian insufficiency (POI). These microsatellites have been reported be associated POI in different racial/ethnic populations.Methods: A cohort 196 cases matched 544 fertile controls was recruited by Institute for Endocrinology, Diabetes Metabolic Disorders Serbia between...

Aim: to test effects of estradiol (E2) 1 mg and drospirenone (DRSP) 2 in treatment normal weight menopausal women with typical symptoms, hyperinsulinism, grade I hypertension.Material methods: The participants were 133 women, mean age 51.82 ± 3.25 years, body mass index (BMI) 24.9 2.6 kg/m2, waist/hip 0.80 0.05, amenorrhoeic period 2.12 2.10 years. All patients treated E2 DRSP during 12 months period. Blood samples taken at 8 am before therapy for: glycemia, lipids, hormonal analysis,...

Premature ovarian failure (POF) is characterized by amenorrhea, hypergonadotropism and hypoestrogenism in women bellow 40 years. Osteoporosis one of the late complications POF. To correlate collagen type I alpha1 (COLIA1) gene polymorphism with bone mineral density (BMD) We determined COLIA1 genotypes SS, Ss, ss 66 Single nucleotide (G toT substitution) within Sp 1-binding site first intron was assessed polymerase chain reaction (PCR) followed single-stranded conformation (SSCP) analysis....