12 research outputs found
āZAGRLI ME, ZAJEDNO MOŽEMO BOLJEā ā PREVENCIJA DEPRESIJE PRIMJENOM NEUROFEEDBACKA I OBUÄENIH PASA PREMA HOLISTIÄKOM PRISTUPU: PRIKAZ SLUÄAJA MLADIÄA SA SINDROMOM DOWN, KOMPLEKSNOM SRÄANOM GREÅ KOM, KOMORBIDITETIMA I POSTTRAUMATSKIM STRESNIM POREMEÄAJEM
U vremenu pandemije COVID-19 i nakon potresa koji je pogodio SIsaÄko-moslavaÄku županiju sve se glasnije progovara o
važnosti oÄuvanja mentalnog zdravlja vulnerabilne skupine djece i mladih. U ovu skupinu ubrajamo osobe sa sindromom
Down za koje postoje mnoga istraživanja, a zbog brojnosti populacije osoba s ovom genetiÄkom bolesti postoji potreba
pratiti pozitivne trendove u svijetu za oÄuvanje optimalnih uvjeta rehabilitacijskih i medicinskih programa i metoda. Ova
vulnerabilna skupina kroz povijest je bila, a prikazom kroz odreÄeni broj osoba sa sindromom Down joÅ” uvijek jest, na marginama
druÅ”tva upravo zbog uspostave dijagnoze od roÄenja i stigmatizacije zajednice koja nije u moguÄnosti osigurati sve
potrebno kako bi osoba sa sindromom Down dosegla svoj maksimum i time postala visokofunkcionalan Älan druÅ”tva u
kojem živimo.
U naÅ”oj studiji prikaza izoliranog sluÄaja mladiÄa u dobi od 15,5 godina koji uz primarnu dijagnozu Down sindroma i
kompleksnu srÄanu greÅ”ku ima i veÄi broj komorbiditeta i oÅ”teÄenja zdravlja u vidu posljedica koje se manifestiraju nakon
komplikacija tijekom lijeÄenja u dobi od sedam mjeseci. PosljediÄno ukupno oÅ”teÄenje zdravlja kod mladiÄa prema dostupnoj
medicinskoj dokumentaciji: koncentriÄno suženje vidnog polja oba oka organskog karaktera; posljedica ozljede srediÅ”njeg
živÄanog sustava / oÅ”teÄenje s funkcionalnim smetnjama; poremeÄaj na vilici, jeziku i nepcima; ožiljni defekt / oÅ”teÄenje
s funkcionalnim smetnjama, psihiÄke bolesti; posttraumatski stresni poremeÄaj - aktivni simptomi prisutni uz komorbiditet ;
intelektualno zaostajanje Äetvrtog stupnja; inkontinencija stolice; potpuna i stalna inkontinencija urina; neuroloÅ”ki ispadi u
odreÄenim funkcionalnim sustavima (piramidni sustav, moždano deblo, smanjen osjet). Isto tako, u trenutku katastrofalnog
potresa 2020. mladiÄ je bio je u svom domu na podruÄju grada Siska, a dogaÄaj predstavlja retraumatizaciju u odnosu na
prethodno iskustvo. Unazad 10 godina mladiÄ u obitelji živi sa sedam obuÄenih pasa prema holistiÄkom pristupu (AAI ā engl.
Animal Assisted Intervention, AAT ā engl. Animal Assisted Therapy) koji su nadopuna postojeÄim habilitacijskim postupcima i
kojima je ostvario izvrsnu komunikaciju verbalno i neverbalno. Istodobno svaki pas alarmira ukoliko je doŔlo do pojave odstupanja,
(npr. psi mogu javiti tridesetak minuta prije prvih tjelesnih bolova, epileptiÄnih ataka, spazama, poviÅ”ene temperature
i sl.). MladiÄ nije ukljuÄen u obrazovni sustav, nego iskljuÄivo u habilitacijske postupke.
Od 2022. ukljuÄen je u neurofeedback trening po Othmerovoj metodi, a nakon 20 sastanaka vidi se pozitivan uÄinak u razvoju
verbalne i neverbalne komunikacije, kvaliteti noÄnog sna i spavanja, opÄem raspoloženju i kognitivnoj razini.
DosadaÅ”nji rezultati ukazuju na pozitivne pomake opÄeg stanja, te smanjivanje vjerojatnosti pojave depresije kod mladiÄa sa
sindromom Down
THE IMPORTANCE OF ANTENATAL ULTRASOUND SCREENING FOR CONGENITAL OSTEOCHONDRODYSPLASIA ā TWO CASE REPORTS
Osteohondrodisplazije velika su skupina rijetkih genskih bolesti karakterizirana poremeÄajem rasta i razvoja hrskavice i kosti. Äesto su povezane s malformacijama drugih organskih sustava. Mogu se podijeliti na letalne i neletalne skeletne displazije. TanatoforiÄna displazija jedna je od najÄeÅ”Äih letalnih skeletnih displazija s uÄestaloÅ”Äu pojavljivanja od 0,69 na 10.000 poroÄaja, dok je heterozigotna ahondrodisplazija meÄu najÄeÅ”Äim neletalnim displazijama s
uÄestaloÅ”Äu od 0,15 na 10.000 poroÄaja. Prikazat Äemo dva novoroÄenÄeta s osteohondrodisplazijom. Prvi je prikaz
letalne osteohondrodisplazije kod novoroÄenÄeta 41-godiÅ”nje viÅ”erotkinje koja je u 33. tjednu nekontrolirane trudnoÄe doÅ”la u naÅ”u Kliniku zbog zapoÄetog poroÄaja. Drugi je prikaz neletalne osteohondrodisplazije u novoroÄenÄeta
31-godiÅ”nje viÅ”erotkinje kod kojeg se od 30. tjedna trudnoÄe prate kraÄe kosti udova.Osteochondrodysplasias comprise a large, genetically heterogeneous group of disorders characterized by abnormalities
of cartilage and bone growth. They are often associated with abnormalities in other organ systems. They are
classified as lethal or non-lethal skeletal dysplasias. Thanatophoric dysplasia is the most common form of lethal skeletal
dysplasia with an incidence of 0.69 per 10.000 births. Heterozygous achondroplasia is the most common non-lethal dysplasia with an incidence of 0.15 per 10.000 births. We will present two cases of skeletal dysplasia. The first case is the case of lethal osteochondrodysplasia in the fetus of a 41-year-old multiparous woman, who came to our hospital in active preterm labor, in the 33th week of uncontrolled pregnancy. The second case is the case of non-lethal osteochondrodysplasia in the fetus of a 31-year-old multiparous woman. The fetal short femur length was detected in the 30th week of pregnancy
Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data
<p>Abstract</p> <p>Background</p> <p>Genome-wide homozygosity estimation from genomic data is becoming an increasingly interesting research topic. The aim of this study was to compare different methods for estimating individual homozygosity-by-descent based on the information from human genome-wide scans rather than genealogies. We considered the four most commonly used methods and investigated their applicability to single-nucleotide polymorphism (SNP) data in both a simulation study and by using the human genotyped data. A total of 986 inhabitants from the isolated Island of Vis, Croatia (where inbreeding is present, but no pedigree-based inbreeding was observed at the level of F > 0.0625) were included in this study. All individuals were genotyped with the Illumina HumanHap300 array with 317,503 SNP markers.</p> <p>Results</p> <p>Simulation data suggested that multi-point FEstim is the method most strongly correlated to true homozygosity-by-descent. Correlation coefficients between the homozygosity-by-descent estimates were high but only for inbred individuals, with nearly absolute correlation between single-point measures.</p> <p>Conclusions</p> <p>Deciding who is really inbred is a methodological challenge where multi-point approaches can be very helpful once the set of SNP markers is filtered to remove linkage disequilibrium. The use of several different methodological approaches and hence different homozygosity measures can help to distinguish between homozygosity-by-state and homozygosity-by-descent in studies investigating the effects of genomic autozygosity on human health.</p
Youth and AIDS ā A Study of Attitudes, Knowledge, Behavior and Risks in the Post-War Croatia
According to the latest reports, the Eastern Europe currently exhibits the greatest relative
increase in the number of newly registered HIV infections in the world. At the
same time, Central Europe remains relatively spared from the epidemic, with reported
rates significantly lower than those in both Eastern and Western Europe. Croatia geographically
affiliates to Central Europe, but it has two specific potential risk factors in
comparison to neighboring countries: recent War events and a summer season when immigration
of large number of tourists from Central and Eastern Europe is expected.
Therefore, it is critical to examine AIDS attitudes in young people, increase their knowledge,
monitor their behavior and warn on risks in order to prevent larger spread of epidemics
from Eastern Europe to Croatia. In this study, we report on a large related survey
and education program among 17-year-old high school pupils that was conducted
in years immediately following the War (1996ā1999)
Youth and AIDS ā A Study of Attitudes, Knowledge, Behavior and Risks in the Post-War Croatia
According to the latest reports, the Eastern Europe currently exhibits the greatest relative
increase in the number of newly registered HIV infections in the world. At the
same time, Central Europe remains relatively spared from the epidemic, with reported
rates significantly lower than those in both Eastern and Western Europe. Croatia geographically
affiliates to Central Europe, but it has two specific potential risk factors in
comparison to neighboring countries: recent War events and a summer season when immigration
of large number of tourists from Central and Eastern Europe is expected.
Therefore, it is critical to examine AIDS attitudes in young people, increase their knowledge,
monitor their behavior and warn on risks in order to prevent larger spread of epidemics
from Eastern Europe to Croatia. In this study, we report on a large related survey
and education program among 17-year-old high school pupils that was conducted
in years immediately following the War (1996ā1999)
Mendelian Diseases and Conditions in Croatian Island Populations: Historic Records and New Insights
Among Croatian islands, there are several which are known for unusual
autochthonous diseases and specific medical conditions that result from the
reproductive isolation and specific population genetic structure. These
populations are characterized by high degree of genetic isolation,
consanguinity, and inbreeding. The reported diseases include Mal de Meleda on
Mljet island, hereditary dwarfism on Krk island, familial learning disability on
Susak island, familial ovarian cancer on Lastovo island, and several other rare
diseases and conditions inherited in Mendelian fashion. We present a historical
perspective on how these conditions were first described, interpreted, and
assessed. We reviewed the information obtained through genetic research in the
past several years, when the genetic etiology of some of these conditions was
explained. The disease gene causing Mal de Meleda was first localized at 8q
chromosome, and mutations in the ARS (component B) gene encoding SLURP-1
(secreted mammalian Ly-6/uPAR-related protein 1) protein were identified
subsequently. The genetic etiology of dwarfism on the island of Krk is explained
by a mutation in the PROP1 gene, responsible for the short stature. The search
for mutations underlying other monogenic diseases in Croatian islands is under
way
āZAGRLI ME, ZAJEDNO MOŽEMO BOLJEā ā PREVENCIJA DEPRESIJE PRIMJENOM NEUROFEEDBACKA I OBUÄENIH PASA PREMA HOLISTIÄKOM PRISTUPU: PRIKAZ SLUÄAJA MLADIÄA SA SINDROMOM DOWN, KOMPLEKSNOM SRÄANOM GREÅ KOM, KOMORBIDITETIMA I POSTTRAUMATSKIM STRESNIM POREMEÄAJEM
U vremenu pandemije COVID-19 i nakon potresa koji je pogodio SIsaÄko-moslavaÄku županiju sve se glasnije progovara o
važnosti oÄuvanja mentalnog zdravlja vulnerabilne skupine djece i mladih. U ovu skupinu ubrajamo osobe sa sindromom
Down za koje postoje mnoga istraživanja, a zbog brojnosti populacije osoba s ovom genetiÄkom bolesti postoji potreba
pratiti pozitivne trendove u svijetu za oÄuvanje optimalnih uvjeta rehabilitacijskih i medicinskih programa i metoda. Ova
vulnerabilna skupina kroz povijest je bila, a prikazom kroz odreÄeni broj osoba sa sindromom Down joÅ” uvijek jest, na marginama
druÅ”tva upravo zbog uspostave dijagnoze od roÄenja i stigmatizacije zajednice koja nije u moguÄnosti osigurati sve
potrebno kako bi osoba sa sindromom Down dosegla svoj maksimum i time postala visokofunkcionalan Älan druÅ”tva u
kojem živimo.
U naÅ”oj studiji prikaza izoliranog sluÄaja mladiÄa u dobi od 15,5 godina koji uz primarnu dijagnozu Down sindroma i
kompleksnu srÄanu greÅ”ku ima i veÄi broj komorbiditeta i oÅ”teÄenja zdravlja u vidu posljedica koje se manifestiraju nakon
komplikacija tijekom lijeÄenja u dobi od sedam mjeseci. PosljediÄno ukupno oÅ”teÄenje zdravlja kod mladiÄa prema dostupnoj
medicinskoj dokumentaciji: koncentriÄno suženje vidnog polja oba oka organskog karaktera; posljedica ozljede srediÅ”njeg
živÄanog sustava / oÅ”teÄenje s funkcionalnim smetnjama; poremeÄaj na vilici, jeziku i nepcima; ožiljni defekt / oÅ”teÄenje
s funkcionalnim smetnjama, psihiÄke bolesti; posttraumatski stresni poremeÄaj - aktivni simptomi prisutni uz komorbiditet ;
intelektualno zaostajanje Äetvrtog stupnja; inkontinencija stolice; potpuna i stalna inkontinencija urina; neuroloÅ”ki ispadi u
odreÄenim funkcionalnim sustavima (piramidni sustav, moždano deblo, smanjen osjet). Isto tako, u trenutku katastrofalnog
potresa 2020. mladiÄ je bio je u svom domu na podruÄju grada Siska, a dogaÄaj predstavlja retraumatizaciju u odnosu na
prethodno iskustvo. Unazad 10 godina mladiÄ u obitelji živi sa sedam obuÄenih pasa prema holistiÄkom pristupu (AAI ā engl.
Animal Assisted Intervention, AAT ā engl. Animal Assisted Therapy) koji su nadopuna postojeÄim habilitacijskim postupcima i
kojima je ostvario izvrsnu komunikaciju verbalno i neverbalno. Istodobno svaki pas alarmira ukoliko je doŔlo do pojave odstupanja,
(npr. psi mogu javiti tridesetak minuta prije prvih tjelesnih bolova, epileptiÄnih ataka, spazama, poviÅ”ene temperature
i sl.). MladiÄ nije ukljuÄen u obrazovni sustav, nego iskljuÄivo u habilitacijske postupke.
Od 2022. ukljuÄen je u neurofeedback trening po Othmerovoj metodi, a nakon 20 sastanaka vidi se pozitivan uÄinak u razvoju
verbalne i neverbalne komunikacije, kvaliteti noÄnog sna i spavanja, opÄem raspoloženju i kognitivnoj razini.
DosadaÅ”nji rezultati ukazuju na pozitivne pomake opÄeg stanja, te smanjivanje vjerojatnosti pojave depresije kod mladiÄa sa
sindromom Down
The impact of stress and coping strategies on life satisfaction in a national sample of adolescents: a structural equation modelling approach
Although stress strongly predicts life satisfaction, the psychosocial mechanisms underlying this association remain unclear. To investigate the possible mediating role of coping, we conducted a crossāsectional study that assessed youths' life stress levels, propensity to engage in three different coping styles (i.e., active coping, internal coping, & withdrawal), and life satisfaction in a probabilistic, twostage stratifed cluster sample of 1830 high school seniors (986 females ; age range 17ā22 years old) from 26 schools in or around the four largest cities in Croatia. We used correlational analyses and structural equation modelling to test the hypothesis that coping mediates the relation between stress and life satisfaction. The tested model was marginally acceptable Ļ2 = 1613.85, df = 177, p < 0.001, goodnessāofāftāindex = 0.92, Comparative Fit Index = 0.91, Tuckerā Lewis Index = 0.89, root mean square error of approximation = 0.067 (90% CI = 0.064 to 0.070), standardized root mean squared residual = 0.056. As hypothesized, stress was related to life satisfaction directly (Ī²cā = ā0.22, p < 0.01) but also indirectly (Ī²ab = ā0.05, p < 0.01) by affecting youths' likelihood of engaging in withdrawal behaviours, such as avoiding problems, distracting, or using anger, alcohol, or drugs. The proportion of the total effect mediated by withdrawal was 19.4%. In contrast, neither active nor internal coping were signifcant mediators. Based on these results, we conclude that preventive and educational programs for enhancing youth mental health may beneft from reducing adolescents' stress levels and stressārelated withdrawal behaviour, and by encouraging youth to use active coping strategies instead
Improving the intake of nutritious food in children aged 6-23 months in Wuyi County, China ā a multi-method approach
Aim To develop affordable, appropriate, and nutritious recipes
based on local food resources and dietary practices
that have the potential to improve infant feeding practices.
Methods We carried out a mixed methods study following
the World Health Organizationās evaluation guidelines
on the promotion of child feeding. We recruited caregivers
with children aged 6-23 months in Wuyi County, Hebei
Province, China. The study included a 24-hour dietary recall
survey, local food market survey, and development of
a key local food list, food combinations, and recipes. Mothers
tested selected recipes at their homes for two weeks.
We interviewed mothers to obtain their perceptions on
the recipes.
Results The 24-hour dietary recall survey included 110
mothers. Dietary diversity was poor; approximately 10% of
children consumed meat and only 2% consumed vitamin
A-rich vegetables. The main reason for not giving meat was
the mothersā belief that their children could not chew and
digest meat. With the help of mothers, we developed six
improved nutritious recipes with locally available and affordable
foods. Overall, mothers liked the recipes and were
willing to continue using them.
Conclusions This is the first study using a systematic evidence-
based method to develop infant complementary
recipes that can address complementary feeding problems
in China. We developed recipes based on local foods
and preparation practices and identified the barriers that
mothers faced toward feeding their children with nutritious
food. To improve nutrition practices, it is important to
both give mothers correct feeding knowledge and assist
them in cooking nutritious foods for their children based
on locally available products. Further research is needed to
assess long-term effects of those recipes on the nutritional
status of childre
A comparison between antenatal care quality in public and private sector in rural Hebei, China
Aim To evaluate the quality of antenatal care (ANC) in Hebei
Province and compare it between the public and private
sector and within the public sector.
Methods We conducted a Maternal, Newborn and Child
Health Household Survey in 2010 using a two-stage sampling
procedure and included 1079 mothers. The quality
of ANC was assessed on the basis of the number of ANC
visits, the time of the first ANC visit, 16 different ANC procedures,
owning a maternal health care booklet, and the
type of service provider.
Results Almost all women (98%) received ANC services at
least once, 80% at least four times, and 54% at least five
times. About half of the women (46%) visited ANC facility
within their first trimester. Neither public nor private sector
provided all 16 standardized services, but significantly
more women in public sector received ANC procedures.
Most women received ANC in county or higher-level hospitals
(75%) and very few in township hospitals (8%). Significantly
fewer women were weighed and tested for HIV/
AIDS in township than in county or higher-level hospitals.
Conclusion The quality of ANC in Hebei was poorer than
required by Chinaās national and World Health Organization
norms. Although the public sector performed better
than the private sector, the utilization and quality of care
of ANC services in this sector varied and women generally
visited county or higher-level health facilities