„ZAGRLI ME, ZAJEDNO MOŽEMO BOLJE“ – PREVENCIJA DEPRESIJE PRIMJENOM NEUROFEEDBACKA I OBUČENIH PASA PREMA HOLISTIČKOM PRISTUPU: PRIKAZ SLUČAJA MLADIĆA SA SINDROMOM DOWN, KOMPLEKSNOM SRČANOM GREŠKOM, KOMORBIDITETIMA I POSTTRAUMATSKIM STRESNIM POREMEĆAJEM

U vremenu pandemije COVID-19 i nakon potresa koji je pogodio SIsačko-moslavačku županiju sve se glasnije progovara o važnosti očuvanja 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 genetičkom bolesti postoji potreba pratiti pozitivne trendove u svijetu za očuvanje optimalnih uvjeta rehabilitacijskih i medicinskih programa i metoda. Ova vulnerabilna skupina kroz povijest je bila, a prikazom kroz određeni broj osoba sa sindromom Down još uvijek jest, na marginama društva upravo zbog uspostave dijagnoze od rođenja i stigmatizacije zajednice koja nije u mogućnosti osigurati sve potrebno kako bi osoba sa sindromom Down dosegla svoj maksimum i time postala visokofunkcionalan član društva u kojem živimo. U našoj studiji prikaza izoliranog slučaja mladića u dobi od 15,5 godina koji uz primarnu dijagnozu Down sindroma i kompleksnu srčanu grešku ima i veći broj komorbiditeta i oštećenja zdravlja u vidu posljedica koje se manifestiraju nakon komplikacija tijekom liječenja u dobi od sedam mjeseci. Posljedično ukupno oštećenje zdravlja kod mladića prema dostupnoj medicinskoj dokumentaciji: koncentrično suženje vidnog polja oba oka organskog karaktera; posljedica ozljede središnjeg živčanog sustava / oštećenje s funkcionalnim smetnjama; poremećaj na vilici, jeziku i nepcima; ožiljni defekt / oštećenje s funkcionalnim smetnjama, psihičke bolesti; posttraumatski stresni poremećaj - aktivni simptomi prisutni uz komorbiditet ; intelektualno zaostajanje četvrtog stupnja; inkontinencija stolice; potpuna i stalna inkontinencija urina; neurološki ispadi u određenim funkcionalnim sustavima (piramidni sustav, moždano deblo, smanjen osjet). Isto tako, u trenutku katastrofalnog potresa 2020. mladić je bio je u svom domu na području grada Siska, a događaj predstavlja retraumatizaciju u odnosu na prethodno iskustvo. Unazad 10 godina mladić u obitelji živi sa sedam obučenih pasa prema holističkom pristupu (AAI – engl. Animal Assisted Intervention, AAT – engl. Animal Assisted Therapy) koji su nadopuna postojećim habilitacijskim postupcima i kojima je ostvario izvrsnu komunikaciju verbalno i neverbalno. Istodobno svaki pas alarmira ukoliko je došlo do pojave odstupanja, (npr. psi mogu javiti tridesetak minuta prije prvih tjelesnih bolova, epileptičnih ataka, spazama, povišene temperature i sl.). Mladić nije uključen u obrazovni sustav, nego isključivo u habilitacijske postupke. Od 2022. uključen je u neurofeedback trening po Othmerovoj metodi, a nakon 20 sastanaka vidi se pozitivan učinak u razvoju verbalne i neverbalne komunikacije, kvaliteti noćnog sna i spavanja, općem raspoloženju i kognitivnoj razini. Dosadašnji rezultati ukazuju na pozitivne pomake općeg stanja, te smanjivanje vjerojatnosti pojave depresije kod mladića sa sindromom Down

THE IMPORTANCE OF ANTENATAL ULTRASOUND SCREENING FOR CONGENITAL OSTEOCHONDRODYSPLASIA – TWO CASE REPORTS

Osteohondrodisplazije velika su skupina rijetkih genskih bolesti karakterizirana poremećajem rasta i razvoja hrskavice i kosti. Često su povezane s malformacijama drugih organskih sustava. Mogu se podijeliti na letalne i neletalne skeletne displazije. Tanatoforična displazija jedna je od najčešćih letalnih skeletnih displazija s učestalošću pojavljivanja od 0,69 na 10.000 porođaja, dok je heterozigotna ahondrodisplazija među najčešćim neletalnim displazijama s učestalošću od 0,15 na 10.000 porođaja. Prikazat ćemo dva novorođenčeta s osteohondrodisplazijom. Prvi je prikaz letalne osteohondrodisplazije kod novorođenčeta 41-godišnje višerotkinje koja je u 33. tjednu nekontrolirane trudnoće došla u našu Kliniku zbog započetog porođaja. Drugi je prikaz neletalne osteohondrodisplazije u novorođenčeta 31-godišnje višerotkinje kod kojeg se od 30. tjedna trudnoće prate kraće 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 – 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 (1996–1999)

Youth and AIDS – 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 (1996–1999)

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

„ZAGRLI ME, ZAJEDNO MOŽEMO BOLJE“ – PREVENCIJA DEPRESIJE PRIMJENOM NEUROFEEDBACKA I OBUČENIH PASA PREMA HOLISTIČKOM PRISTUPU: PRIKAZ SLUČAJA MLADIĆA SA SINDROMOM DOWN, KOMPLEKSNOM SRČANOM GREŠKOM, KOMORBIDITETIMA I POSTTRAUMATSKIM STRESNIM POREMEĆAJEM

U vremenu pandemije COVID-19 i nakon potresa koji je pogodio SIsačko-moslavačku županiju sve se glasnije progovara o važnosti očuvanja 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 genetičkom bolesti postoji potreba pratiti pozitivne trendove u svijetu za očuvanje optimalnih uvjeta rehabilitacijskih i medicinskih programa i metoda. Ova vulnerabilna skupina kroz povijest je bila, a prikazom kroz određeni broj osoba sa sindromom Down još uvijek jest, na marginama društva upravo zbog uspostave dijagnoze od rođenja i stigmatizacije zajednice koja nije u mogućnosti osigurati sve potrebno kako bi osoba sa sindromom Down dosegla svoj maksimum i time postala visokofunkcionalan član društva u kojem živimo. U našoj studiji prikaza izoliranog slučaja mladića u dobi od 15,5 godina koji uz primarnu dijagnozu Down sindroma i kompleksnu srčanu grešku ima i veći broj komorbiditeta i oštećenja zdravlja u vidu posljedica koje se manifestiraju nakon komplikacija tijekom liječenja u dobi od sedam mjeseci. Posljedično ukupno oštećenje zdravlja kod mladića prema dostupnoj medicinskoj dokumentaciji: koncentrično suženje vidnog polja oba oka organskog karaktera; posljedica ozljede središnjeg živčanog sustava / oštećenje s funkcionalnim smetnjama; poremećaj na vilici, jeziku i nepcima; ožiljni defekt / oštećenje s funkcionalnim smetnjama, psihičke bolesti; posttraumatski stresni poremećaj - aktivni simptomi prisutni uz komorbiditet ; intelektualno zaostajanje četvrtog stupnja; inkontinencija stolice; potpuna i stalna inkontinencija urina; neurološki ispadi u određenim funkcionalnim sustavima (piramidni sustav, moždano deblo, smanjen osjet). Isto tako, u trenutku katastrofalnog potresa 2020. mladić je bio je u svom domu na području grada Siska, a događaj predstavlja retraumatizaciju u odnosu na prethodno iskustvo. Unazad 10 godina mladić u obitelji živi sa sedam obučenih pasa prema holističkom pristupu (AAI – engl. Animal Assisted Intervention, AAT – engl. Animal Assisted Therapy) koji su nadopuna postojećim habilitacijskim postupcima i kojima je ostvario izvrsnu komunikaciju verbalno i neverbalno. Istodobno svaki pas alarmira ukoliko je došlo do pojave odstupanja, (npr. psi mogu javiti tridesetak minuta prije prvih tjelesnih bolova, epileptičnih ataka, spazama, povišene temperature i sl.). Mladić nije uključen u obrazovni sustav, nego isključivo u habilitacijske postupke. Od 2022. uključen je u neurofeedback trening po Othmerovoj metodi, a nakon 20 sastanaka vidi se pozitivan učinak u razvoju verbalne i neverbalne komunikacije, kvaliteti noćnog sna i spavanja, općem raspoloženju i kognitivnoj razini. Dosadašnji rezultati ukazuju na pozitivne pomake općeg stanja, te smanjivanje vjerojatnosti pojave depresije kod mladića 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 cross‐sectional 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 17–22 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 χ2 = 1613.85, df = 177, p < 0.001, goodness‐of‐ft‐index = 0.92, Comparative Fit Index = 0.91, Tucker‐ 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 (βc’ = −0.22, p < 0.01) but also indirectly (βab = −0.05, 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 stress‐related 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 – 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 Organization’s 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 mothers’ 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 China’s 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