Perception of genomic newborn screening among peripartum mothers.

Advances in genomic technology have generated possibilities for expanding newborn screening from traditional procedures to genomic newborn screening (gNBS). However, before the implementation of gNBS, it is crucial to address various aspects, including parental attitudes, at the national level. With this aim, we analyzed the attitudes and expectations of Slovenian peripartum mothers regarding gNBS and the acceptability of its implementation into the Slovenian health system. A questionnaire-based study was conducted on a convenience sample of 1136 peripartum mothers (a response rate of 84.1%) in a hospital setting in Slovenia. We measured participants' level of general genetic knowledge, motivation to undergo gNBS, attitude toward its benefits and drawbacks, willingness to participate financially, and factors that would influence their decision to undergo gNBS. Most participants exhibited a positive attitude (83.2%) and were motivated to undertake gNBS (63.4%). They were willing to share genetic data and also contribute to the testing costs. Mothers with better genetic literacy and higher education level, and those with the familial genetic testing experiences were more supportive of gNBS. However, several emotional and socio-ethical concerns were raised regarding how the genetic information would influence family and social life.

Marijuana smoking among school-aged adolescents in the Brcko District of Bosnia and Herzegovina: A cross-sectional study.

OBJECTIVE: The aim was to determine the prevalence of marijuana smoking among school-aged adolescents in the Brcko District of Bosnia and Herzegovina, with particular regard to their gender, age and residence, and the frequency of marijuana smoking in the past thirty days in relation to their peers in the rest of Bosnia and Herzegovina, the Republic of Croatia and the Republic of Serbia. SUBJECTS AND METHODS: This research, designed as a cross-sectional study and based on the ESPAD (European School Survey Project on Alcohol and Other Drugs) questionnaire, adjusted to this research, encompassed 4,188 adolescents from elementary and secondary schools. The data were collected by means of questionnaires tailored to each respondent. RESULTS: A significantly lower number of adolescents smoke marijuana in comparison to those who do not smoke, but male adolescents smoke more often than female adolescents (p<0.001), as well as urban youth in comparison to rural youth (p=0.04). Every fourth adolescent, regardless of gender, who smoked marijuana, used it before the age of thirteen (p<0.001), male adolescents more often than females (p=0.002). In the previous thirty days a higher percentage of all the respondents from the Brcko District had smoked marijuana than those from the Republika Srpska and the RS (p<0.001), and there is no difference between them and their peers from the Federation of Bosnia and Herzegovina and the RC (p=0.382 and p=0.608). CONCLUSION: Smoking marijuana in the Brcko District is a major public health problem. Male adolescents smoke marijuana more often than female adolescents, and urban youth more in comparison to rural youth. In the previous thirty days adolescents from the Brcko District smoked more often than their peers from the Republic of Serbia and the Republika Srpska, and with the same intensity but less frequently compared to adolescents from the Republic of Croatia and the Federation of Bosnia and Herzegovina.

Age at natural menopause in refugee and domicile women who lived in Tuzla Canton in Bosnia and Herzegovina during and after the war.

OBJECTIVE: This study aims to estimate age at onset of natural menopause in domicile and refugee women who lived in Tuzla Canton in Bosnia and Herzegovina during the war (1992-1995) and in the postwar period until the interview. METHODS: A cross-sectional study was conducted on a sample of 331 postmenopausal women-264 (80%) domicile women and 67 (20%) refugee women-between June 2009 and February 2011. RESULTS: The study encompassed 331 women with a mean age of 57.0 years (range, 39-75 y). The overall mean age at menopause was 49.1 years. The mean age at menopause was higher in domicile women (49.3 y) than in refugee women (48.0 y; unpaired t test, P = 0.023). After adjustment for age at menarche, education, marital status, living place, body mass index, number of abortions, use of contraceptives, and current smoking, only refugee status and parity remained as significant independent predictors of age at menopause (score test, P = 0.025). Refugee women had an increased probability of earlier onset of menopause compared with nonrefugee women (adjusted hazard ratio, 1.33; 95% CI, 1.02-1.75; P = 0.039), whereas there was a decreased probability of experiencing menopause with increasing number of births (adjusted hazard ratio, 0.92; 95% CI, 0.84-0.996; P = 0.04). CONCLUSIONS: The age at onset of menopause in refugee women is lower than that in domicile women, indicating that war, independently of other factors, could influence the age when menopause occurs. On average, women who lived in Bosnia and Herzegovina during the war and postwar period entered menopause earlier than did women from Europe.

Periodontal disease and dental caries from Krapina Neanderthal to contemporary man - skeletal studies.

OBJECTIVE: The aim of this study was the quantification of alveolar bone resorption as well as the number and percentage of teeth with dental caries. MATERIALS AND METHODS: Four samples of jaws and single teeth were studied from four time periods, i.e. from the Krapina Neanderthals (KN) who reportedly lived over 130,000 years ago, and groups of humans from the 1(st), 10(th) and 20(th) centuries. Resorption of the alveolar bone of the jaws was quantified by the tooth-cervical-height (TCH) index. Diagnosis of dental caries was made by inspection and with a dental probe. TCH-index was calculated for a total of 1097 teeth from 135 jaws. Decay was calculated for a total of 3579 teeth. RESULTS: Resorptive changes of the alveolar bone in KN and 1(st) century man were more pronounced on the vestibular surface than interdentally (p<0.05), while no significant difference could be confirmed for 10(th) and 20(th) century man (p=0.1). The number (percentage) of decayed teeth was 0 (0%, n=281 teeth) in KN, 15 (1.7%; n=860 teeth) in 1(st) century, 24 (3.4%; n=697 teeth) in 10(th) century, and 207 (11.9%, n=1741 teeth) in 20(th) century. CONCLUSION: On the basis of our results it may be postulated that in contemporary man in relation to KN, the accumulation of plaque pathogens in the interdental space is substantially greater than on the vestibular side. These findings have practical, educational and preventive value for oral hygiene improvement, especially of the interdental space, which should help decrease the prevalence of periodontal disease and dental caries, and improve oral as well as general health.

Suicide among childhood cancer survivors in Slovenia.

OBJECTIVE: Suicide is one of the causes of late mortality among childhood cancer survivors. The aim of our study was to analyse the risk of suicide among childhood cancer survivors compared with that of the general population of Slovenia. PATIENTS AND METHODS: This retrospective study included patients with childhood cancer registered at the Cancer Registry of Slovenia between 1978-2008, with an observation period of 1978-2010. Childhood cancer patients and control subjects from the general population of Slovenia were matched by sex, year and age at the beginning of follow-up and time of follow-up in years. Data on the general population of Slovenia were obtained from the Statistical Office of the Republic of Slovenia. RESULTS: A total of 1647 patients were recorded in the Cancer Registry as having cancer during childhood, with 3 patients committing suicide. All three were male. Their age at diagnosis of cancer was 12, 13 and 2 years old; their age at suicide was 19, 32 and 28 years old. The mechanism of death was asphyxiation in all three deaths. The calculation of the expected number of suicides in the group of individuals with childhood cancer from the general Slovene population revealed the number of 3.16 persons. CONCLUSION: The comparison of the observed and expected probability showed that there was no statistically significant difference in the suicide rate between childhood cancer survivors and the general population of Slovenia.

How safe is germinal vesicle stage oocyte rescue? Aneuploidy analysis of in vitro matured oocytes.

OBJECTIVE: To evaluate the rate and type of aneuploidies of chromosomes 13, 16, 18, 21 and 22, with respect to the length of in vitro maturation (IVM) period, and to compare the results to previously published studies on aneuploidy rates of unfertilized, uninseminated mature oocytes and first polar bodies. STUDY DESIGN: Two hundred and twelve immature germinal vesicle stage oocytes were assigned to two groups. After successful IVM, depending on their maturational period of 24h (Group A) or 36h (Group B), chromosomal analysis was performed by five color fluorescence in situ hybridization (FISH). In Groups A and B the rates of aneuploid oocytes were calculated and compared by chi-square test. Also the rates of hyperhaploidy, hypohaploidy, disomy and nullisomy were determined and compared by chi-square test. The difference was considered statistically significant at p-value of <0.05. RESULTS: The prolonged IVM did not significantly affect the aneuploidy rate compared to the shorter maturation period (48.1% and 45.0%, respectively). Regarding the unbalanced premature chromatid separation, no statistically significant difference was found between hyperhaploidy and hypohaploidy (14.8% versus 8.3%). For chromosome nondisjunction, higher frequency of disomy than nullisomy was observed (30.6% versus 14.8%; p<0.05). The estimated global aneuploidy rate was between 42% and 63%. CONCLUSIONS: The aneuploidy rate of IVM GV-oocytes is comparable to the aneuploidy rate of in vivo matured oocytes and first polar bodies, regardless of the length of maturation period. This suggests that the immature oocytes can be used in infertility treatment after they complete maturation.

Multinucleation and cleavage of embryos derived from in vitro-matured oocytes.

In patients with polycystic ovary syndrome (PCOS), the proportion of optimal embryos-blastomere number and fragmentation rate-derived from in vitro-matured oocytes after the hCG priming protocol was higher (43.3%) than the proportion of optimal embryos derived from oocyte in vitro maturation with the FSH priming protocol (11.1%). The embryos derived from in vitro-matured oocytes after the hCG priming protocol also showed a lower incidence of multinucleated blastomeres. Pregnancies were recorded only in the hCG primed patients.

Developmental capacity of different morphological types of day 5 human morulae and blastocysts.

After prolonged culture of human embryos, the expanded blastocysts with oval inner cell mass (ICM) and cohesive trophectoderm (TE) are preferably selected for transfer. In cycles with poor embryonic development, the selection has to be done from among suboptimal blastocysts for which no grading system exists. In this study, 1396 transferred blastocysts and morulae were classified into eight morphologic categories. The B1 category constituted the optimal blastocysts. The other categories were characterized by different deviations from optimal blastocysts: cytoplasmic fragments and necrosis in TE (B2), unexpanded blastocoele (B3), non-compact or small ICM (B4), fragments in TE and ICM (B5), up to 20% excluded blastomeres (B6), necrotic TE and ICM (B7), and more than 20% excluded cells from blastocysts (B8). The live birth rate was calculated from blastocysts with known outcome after transfer (88.9% transferred blastocysts). The birth rate declined from B1 to B8 by the same order and was: 45.2, 32.8, 26.9, 23, 17.7, 16.7, 7.7 and 1.2% respectively. Normal ICM was recognized as the most important parameter for implantation. There was a strong relation between such ordered morphology categories and implantation capacity (P < 0.0001). Such a grading system is helpful in selecting the best of all available day-5 embryos for transfer.