The usefulness of advanced lipid and oxidative stress testing for diagnosis and management of low HDL-cholesterol phenotype: A case report.

OBJECTIVE: Plasma high-density lipoprotein cholesterol (HDL-C) level is a strong inverse predictor of cardiovascular disease (CVD) development. Tangier disease, a consequence of mutations in the ATP binding cassette transporter 1 (ABCA1) gene, is associated with very low HDL-C levels. Still, the relationship between Tangier disease and CVD is not always evident. The study investigates usefulness of lipoprotein subfractions, oxidative stress and paraoxonase 1 (PON1) status assessment for evaluation and management of patient with low HDL-C phenotype. PATIENT AND METHODS: A 12-year-old boy was hospitalised due to hypertension. Laboratory evaluation revealed low HDL-C level, and subsequent molecular diagnostic confirmed Tangier disease. Lipoprotein subfractions were assessed by gradient-gel electrophoresis. Oxidative stress status was estimated by measuring total antioxidative status, total oxidative status, prooxidative-antioxidative balance, malondialdehyde and advanced oxidation protein products levels. Activity of paraoxonase 1 in serum and its distribution within HDL subclasses was also determined (ten healthy boys aged 13.1±3.4years served as the reference group). RESULTS: Analysis of oxidative stress status biomarkers revealed a state of prolonged prooxidants activity. In turn, serum PON1 activity was substantially reduced. The majority of PON1 activity was present on HDL 2 particles. CONCLUSION: Impaired antioxidative potential of HDL may point toward hidden cardiovascular risk in isolated low HDL-phenotype.

Determinants of job satisfaction of healthcare professionals in public hospitals in Belgrade, Serbia--Cross-sectional analysis.

INTRODUCTION: The quality of health care significantly depends on the satisfaction of the employees. OBJECTIVE: The objective of this study was to establish the level of professional satisfaction of healthcare professionals in state hospitals in Belgrade, Serbia, and to determine and to rank the factors which impact on their satisfaction or dissatisfaction. METHOD: Professional satisfaction survey was designed and conducted as a cross-sectional study in 2008. Completed questionnaires were returned by 6,595 healthcare professionals from Belgrade's hospitals. Statistical analysis was performed using the Student's t-test, χ² test and ANOVA. Factor analysis was applied in order to define determinants of professional satisfaction, i.e. dissatisfaction. RESULTS: This study showed that the degree of professional satisfaction of Serbian healthcare professionals was low. The main causes of professionals'dissatisfaction were wages, equipment, the possibility of continuous medical education/training and the opportunities for professional development. Healthcare professionals with university education were more satisfied with all the individual aspects of job satisfaction than those with secondary school and college education. CONCLUSION: There were significantly more healthcare professionals satisfied with their job among males, older than 60 years, in the age group 50-59 years, with managerial function, and with 30 or more years of service. Development strategy of human resources in the Serbian health care system would significantly improve the professional satisfaction and quality of the provided health care.

Health-related quality of life, anxiety, and depressive symptoms in children with primary immunodeficiencies.

INTRODUCTION: The aims of this study were to evaluate levels of health-related quality of life (HRQOL) and the presence of anxiety and depressive symptoms in children with primary immunodeficiency disease (PID) in Serbia. MATERIALS AND METHODS: Self- and parent-rated data from 25 children with PID were available. As controls, data from 50 children with juvenile idiopathic arthritis (JIA) and 89 healthy children were included. The Pediatric Quality of Life Inventory was used for HRQOL assessments. Anxiety symptoms were identified using the Screen for Child Anxiety-Related Emotional Disorders questionnaire, while depressive symptoms were identified using the Mood and Feeling Questionnaire. RESULTS: Children with PID had significantly lower Pediatric Quality of Life Inventory total scores compared to children with JIA and healthy children as child-rated (P=0.02) and parent-rated (P<0.001). Specifically, they had significantly lowered emotional functioning compared to children with JIA, and social functioning compared to both children with JIA and healthy children. School functioning was significantly lower among children with PID (parent-rated only). By parent-rated responses, six (24%) out of 25 children with PID had significant anxiety symptoms, while five (20%) children had significant depressive symptoms, which was statistically higher than among children with JIA and healthy controls (P=0.05). CONCLUSION: HRQOL could be significantly compromised in children with PID, particularly across such psychosocial domains as emotional, social, and school. These children were also found to be at an increased risk for suffering significant anxiety and depressive symptoms.

Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.

Alström syndrome is a rare disorder typified by early childhood obesity, neurosensory deficits, cardiomyopathy, progressive renal and hepatic dysfunction, and endocrinological features such as severe insulin resistance, type 2 diabetes, hyperlipidemia, and hypogonadism. Widespread fibrosis leads to multiple organ failure. Mutations in ALMS1 cause Alström syndrome. Two age-matched, unrelated adolescent males of Serbian descent with Alström syndrome underwent an extensive workup of blood chemistries, and ophthalmological, audiological, and genetic evaluations. Although both showed typical features of Alström syndrome in childhood, several differences were observed that have not been reported previously. Patient 1 was first studied at the age of 13 years for multisystemic disease and re-evaluated at the age of 15.5 years. Patient 2 is a 15-year-old boy who presented at birth with epilepsy and psychomotor developmental delay and generalized tonic-clonic seizures with severe cognitive impairment, features not documented previously in this syndrome. Sequencing analysis indicated two novel ALMS1 mutations in exon 8: p.E1055GfsX4 and p.T1386NfsX15. Metabolic and physiological similarities were observed in both patients, including severe insulin resistance, and truncal obesity with fat loss suggestive of partial lipodystrophy, supporting evidence for a role for ALMS1 in adipose tissue function. The unusual phenotypes of clonic-tonic seizures and severe cognitive abnormalities and lipodystrophy-like adiposity pattern have not been documented previously in Alström syndrome and may be an under-reported abnormality.

[Assessment of health care quality in the tertiary level pediatric hospitals in Serbia].

BACKGROUND/AIM: It is necessary to improve the quality of health care for children. Assessment data would provide new insights into better treatment outcomes. The aim of this descriptive study was to estimate and to compare applied quality indicators in five pediatric in-patient tertiary level institutions in Serbia during the period from January 1st to December 31st 2008. METHODS: Quality data and indicators were collected in the Institute for Public Health of Serbia "Dr. Milan Jovanovid Batut". Descriptive statistics and chi-square test were used for data analysis. RESULTS: The average length of stay (ALOS) in pediatric departments was 7.51 + 1.30 days (5.88-8.91 days). In the same period, ALOS in pediatric surgery departments was 5.85 +/- 1.50 days (3.58-7.57 days). The average number of nurses per occupied bed was 0.76 +/- 0.20 and 1.09 +/- 0.36 in pediatric and in pediatric surgery departments, respectively. The number of operated patients per surgeon was in the range 51.0-160.5. The annual case fatality rate in pediatric departments was estimated to 0.72% +/- 0.20%, whereas in pediatric surgery departments it was 0.34% +/- 0.25%. The autopsy rate was estimated to 0.00%-63.16% in pediatric departments, and 37.14%-80.00% in pediatric surgery departments. There was statistically significant difference among the five hospitals regarding the following indicators of quality of work: total annual mortality rate of patients, autopsy rate, number of rate of patients, autopsy rate, number of patients referred to other institutions, both in pediatric and pediatric surgery departments. CONCLUSION: There is a significant difference among the five hospitals regarding indicators of quality of work. Obligatory set of quality indicators on the basis of legislative acts are the indicators of general quality of work in hospital. It is necessary to establish specific pediatric quality indicators and to define national standards related to these indicators.

Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children.

. LEOPARD syndrome 2 (LS-2) (OMIM #611554) is a rare, dominantly inherited genetic disorder affecting multiple organ systems. We report two unrelated females of different ages whose phenotype fits best in the category of LEOPARD syndrome, both with proven mutations in the RAF1 gene not previouslyreported in pediatric patients. In our 10-year-old patient, who was negative in the PTPN11 gene analysis but involving the RAF1 gene in a complementary analysis, the sequence variant Ser257Leu (770C > T, exon 7) was detected, which previously had been reported in only one 35-year-old woman with LS. The second patient was a two-year-old female infant with Ser259Leu mutation in the same gene, described in several patients with Noonan syndrome (NS) but not in LS patients of any age. The first girl had ventricular and supraventricular extrasystoles, and the second had episodes of paroxysmal supraventricular tachycardia. Echocardiographic examination revealed biventricular obstructive hypertrophic cardiomyopathy in both patients.

An unusual presentation of cardiomyopathy in a patient with microcephaly-cardiomyopathy syndrome.

We report the case of a 15-year-old male patient with microcephaly, dilated cardiomyopathy, mental retardation, secondary hypopituitarism, and minor dysmorphic features: downward- slanting palpebral fissures, narrow palate, small and low-set ears, fifth finger clinodactyly, sandal gaps on both feet, and anal stenosis. He was admitted to the pediatric intensive care unit with signs of progressive cardiac failure. Lethal outcome occurred 25 days after admission. Most clinical features of the patient were similar to those of the four previously reported patients with microcephaly-dilated cardiomyopathy syndrome, but some of this patient's features, such as anal stenosis and secondary hypopituitarism, were unique.