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Human Immunodeficiency Virus (HIV) infection and subsequent antiretroviral therapy (ART) are known to be related to different metabolic disorders. Although ART decreased HIV-associated mortality and morbidity, mortality rates in patients with HIV and ART are 3 to 15 higher than those in the general population. More than 50% of the mortality is due to diseases like: diabetes mellitus (DM), hypertension, cardiovascular diseases (CVD), chronic renal disease and complications following bone fractures. In patients with HIV the metabolic disorders are mainly caused by mithocondrial toxicity, a side effect of ART, and they are represented by: dyslipidemia, lipoatrophy, insulin resistance and diabetes mellitus.

Dis 2007; 30: 430-8. 15. Stojiljković-Petrović M, Klaassen K, Pavlović S. Molecular Characteristics, phenotypic diversity and genotype-esti mated therapeutic responsiveness of Serbian patients with phenylketonuria. J Med Biochem 2014; 33: 97-107. 16. Janosik M, Oliveriusova J, Janosikova B, Sokolova J, Kraus E, Kraus JP, et al. Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. Am J Hum Genet 2001; 68: 1506-13. 17. Testai FD, Gorelick PB. Inherited metabolic disorders and stroke part 2: homocystinuria, organic

raising awareness of this relatively common but underestimated consequence of IMDs ( Table 1 ). Table 1 Endocrine dysfunction in inherited metabolic disorders Endocrine gland Endocrine dysfunction Specific IMD example Blood tests to screen for the endocrine Pituitary Hypopituitarism/Short stature LSDs: MPS, sialidosis, gangliosidosis, mucolipidosis Others: haemochromatosis, acaeruloplasminaemia, Wilson's disease, mitochondrial diseases, cystinosis, post-HSCT TSH, free T4 and free T3, serum cortisol, LH, FSH, male testosterone/estradiol, SHBG, prolactin, IGF1, growth

Regular newborn screening enables detection of severe disorders in their asymptomatic early phase and thus allows the start of early treatment and prevention of long-term sequelae. This concept is in full accordance with care for so called rare diseases. Recently, the national NBS in Europe are under the supervision of ISNS and EUNENBS to ensure the quality control and unified approach. NBS in Slovak Republic has been provided for the whole population as a governmentally guaranteed activity since 1985. The first screened disorder was congenital hypothyroidism (CH). Patients have been screened for phenylketonuria (PKU) since 1995, for congenital adrenal hyperplasia (CAH) since 2003, and for cystic fibrosis (CF) since 2009. The organizational network of NBS ensures more than 98% coverage of the population of newborns. Between 1985 and 2011, the newborn screening centre (NSC SK) examined 3,239 068 newborn infants and confirmed 413 cases of CH (1: 4 128), 157 cases of PKU (1:5 908), 51 cases of CAH (1:8 677) and 26 CF cases (1:6 315). In 2012, the expanded NBS (ENBS) was introduced. It used tandem mass spectrometry (ms/ms) to detect other nine hereditary metabolic disorders (HMDs), defect of beta-oxidation of fatty acids, carnitine disorders, and organic acidurias. Four month pilot study revealed 12 positive cases in 25 000 screened newborns as well as other HMDs not included in the screening - in “peripheral view” of ms/ms. Since 1. January, ENBS has been performed as a regular NBS in the whole population. In January, fifteen new cases were detected (prevalence even 1:763).


Chronic liver diseases and metabolic disorders represent two real public health problems that cause increased morbidity and mortality in a significant number of people worldwide. The most common cause of chronic liver disease is represented by non-alcoholic fatty liver disease (NAFLD). Hepatic inflammation is a critical event in the progression of NAFLD and excess adiposity, through the hormones and cytokines secreted by the adipose tissue, plays an important role. There is ample evidence supporting a significant association between chronic hepatitis C (CHC) and metabolic disorders. CHC may be considered not just a viral disease, but also a metabolic type condition. Multiple pathogenic mechanisms have been proposed to explain the interaction between hepatitis C virus and impairment of glucose and lipid metabolism and diabetes. The relationship between hepatitis B infection (HBV) and metabolic diseases remains uncertain.


There is good evidence for impairment of spermatogenesis and reductions in sperm counts and testosterone levels in chronic alcoholics. The mechanisms for these effects have not yet been studied in detail. The consequences of chronic alcohol consumption on the structure and/or metabolism of testis cell macromolecules require to be intensively investigated. The present work reports the effects of chronic alcoholism on contents of free amino acids, levels of cytochrome P450 3A2 (CYP3A2) mRNA expression and DNA fragmentation, as well as on contents of different cholesterol fractions and protein thiol groups in rat testes. Wistar albino male rats were divided into two groups: I - control (intact animals), II - chronic alcoholism (15% ethanol self-administration during 150 days). Following 150 days of alcohol consumption, testicular free amino acid content was found to be significantly changed as compared with control. The most profound changes were registered for contents of lysine (-53%) and methionine (+133%). The intensity of DNA fragmentation in alcohol-treated rat testes was considerably increased, on the contrary CYP3A2 mRNA expression in testis cells was inhibited, testicular contents of total and etherified cholesterol increased by 25% and 45% respectively, and protein SH-groups decreased by 13%. Multidirectional changes of the activities of testicular dehydrogenases were detected. We thus obtained complex assessment of chronic alcoholism effects in male gonads, affecting especially amino acid, protein, ATP and NADPH metabolism. Our results demonstrated profound changes in testes on the level of proteome and genome. We suggest that the revealed metabolic disorders can have negative implication on cellular regulation of spermatogenesis under long-term ethanol exposure.


Article represents complex approach to PCOS problem from the position of prophylaxis and therapy of metabolic disorders, which include overweight and obesity, insulin resistance, carbohydrate and lipid metabolism deviations. Lifestyle modification specifically including healthy diet was provided as an example. Also, were described medications, which increase insulin sensitivity and method of treatment in case of 3rd class obesity.


Background and aim:Nonalcoholic liver disease is considered the liver manifestation of the metabolic syndrome commonly associated with obesity, glycemic disorders, hypertriglyceridemia, hypertension and low levels of HDL cholesterol. Liver plays an important role in the glucose and lipid metabolism. Liver fat is usually increased in patients with type 2 diabetes and in nondiabetic subjects the presence of hepatic steatosis is correlated with lipid disturbances, insulin dysregulation which can be considered markers for prediction of diabetes. The aim of the study was to evaluate metabolic syndrome (MS) components in the patients with nonalcoholic fatty liver disease (NAFLD) vs without NAFLD. Material and methods: 295 patients: 123M/172W were assessed by clinic and metabolic parameters. NAFLD was diagnosed by ultrasonography. Exclusion criteria: positive markers for viral hepatitis and alcohol consumption >20g/day. Statistic program - SPSS 15.0, statistical significance p ≤ 0.05. Results: From 243 patients with NAFLD, 195 (66.1% ) were with MS and 48 (16.3%) without MS, according to IDF criteria. The patients with NAFLD and without MS vs normal group had significantly higher values for: BMI, waist circumference, GGT, fasting insulin and HOMA-IR. When NAFLD was associated with MS, clinic and metabolic disorders were more pronounced. We found higher levels for: BMI, waist circumference, FPG, HbA1c, triglycerides, fasting insulin, HOMA-IR, total cholesterol to HDL-cholesterol ratio, lower for HDL-cholesterol and a higher prevalence of hypertension (67.7% vs 40.90%). Conclusions: NAFLD is associated with overweight, central fat distribution, glycemic disorders and dyslipidemia and is considered liver expression of MS which is related with a high cardiovascular risk. TC to HDL-c ratio was significantly higher only in patients with NAFLD and MS. Insulin resistance is characteristic for patients with NAFLD independent of MS presence and can be considered the link with cardiovascular risk for these patients


The objectives were to evaluate the effect of heat stress on daily milk traits (yield, fat and protein content, F/P ratio) as well as to determine the differences in metabolic disorders (acidosis, ketosis) prevalence risk regarding the heat stress conditions. For statistical analysis 1,187,781 test-day records of milk, fat, and protein from 89,030 Holsteins reared on 6,388 farms provided by the Croatian Agricultural Agency, were used. Based on the results it could be concluded that heat stress condition causes decline of daily milk yield and components as well as increase of acidosis risk regardless of the lactation stage and increase of ketosis risk during mid-lactation. The research results point out that the test-day records and environmental measurements collected in regular milk recording could be used as a tool for dairy herd monitoring enabling the early detection of unfavourable environmental conditions and the subclinical disorders. Since environmental conditions significantly affect daily milk yield and components, and consequently F/P ratio, further research with the purpose of detailed formulation of metabolic disease risk in relation to the environmental conditions is needed.


Introduction: The purpose of this study was to examine whether the combination of atypical and typical antipsychotic medications is related with metabolism and cognitive functions in the same manner and degree as taking medications of one kind only, i.e. atypical or typical.

Material and methods: The participants of the study comprised of 91 adults with diagnosed mental illness (F-20-F69). The participants were divided into groups on the basis of the kind of administered medications: T+A (typical and atypical medications), A (atypical medications), T (typical medications), P (antidepressants, sedatives, normothymic/antiepileptic drugs). In the study, Short Test of Mental Status (STMS), Verbal Fluency Test (VFT), Rey Auditory Verbal Learning Test (RAVLT) were used for the purpose of examining cognitive functions.

Results: The kind of antipsychotic medications taken by the patients did not differentiate the group in relation to BMI (p<0.13), nor in relation to the level of general cognitive function (p<0.72) or verbal fluency (p<0.34). Both atypical antipsychotic medications and the combination of atypical and typical medications were related to the occurrence of abdominal obesity (p<0.01). An increase in waist circumference decreased an ability of abstract reasoning (p<0.005). When it comes to the body mass index, waist circumference negatively correlated with the delayed memory (p< 0.03, p<0.004).

Discussion: Both the combination of atypical and typical antipsychotic medications and atypical medications are associated with the occurrence of abdominal obesity. The deposition of fat tissue in the abdomen negatively correlated with an ability to learn.

Conclusions: The future studies might explain the interactions between antipsychotic medications, obesity and cognitive function.