Genetic structure of Romani populations in Croatia: analysis of the X chromosome

U ovom radu je na temelju 7 mikrosatelitnih lokusa (DXS983, DXS8037, DXS8092, DXS1225, DXS8082, DXS1066 i DXS986) kromosoma X u osoba muškog spola analizirana genetička struktura triju romskih populacija u Hrvatskoj koje pripadaju različitim migracijskim i jezičnim skupinama. Populacije vlaških Roma iz Međimurja i Baranje (N=156) govore arhaičnim starorumunjskim jezikom ljimba d’bjaš, a populacija balkanskih Roma govori jezikom romani-chib (N=50). Rezultati pokazuju statistički značajnu razliku između genetički najhomogenije romske populacije Međimurja s populacijama Baranje i Zagreba. Najniža raznolikost uočena je na lokusu DXS8092, a najveća na lokusu DXS986 u populacija iz Baranje i Međimurja te lokusu DXS8037 u populaciji iz Zagreba. Analiza neravnoteže vezanosti gena pokazuje da je stupanj neravnoteže vezanosti gena najveći u populaciji iz Međimurja a najmanji u populaciji iz Zagreba. Rezultati provedenih analiza ukazuju na moguće rano odvajanje sve tri istraživane romske populacije, unatoč tome što populacije Međimurja i Baranje pripadaju istoj migracijskoj i jezičnoj skupini.In this PhD thesis 7 X-chromosome microsatellite loci (DXS983, DXS8037, DXS8092, DXS1225, DXS8082, DXS1066 and DXS986) were analyzed in Roma males from three populations in Croatia, who belong to different migration and dialect groups. Two populations of Vlax Roma from Međimurje and Baranja (N=156) speak the archaic Romanian dialect ljimba d’bjaš, while the Balkan Roma from Zagreb speak romani-chib (N=50). Results show statistically significant difference between population of Međimurje and other two populations. DXS8092 showed lowest diversity values in all three populations, while DXS986 showed highest diversity values in Baranja and Međimurje populations and DXS8037 in Zagreb populations. Linkage disequilibrium analyses showed that Međimurje populations has the highest number of pair loci in disequilibrium while Zagreb population has the least. Results point to possible early separation of all three investigated populations, despite the fact that Međimurje and Baranja populations belong to same migration category and speak the same dialect

Solitary pulmonary amyloidoma mimicking lung cancer on 18F-FDG PET-CT scan in systemic lupus erythematosus patient

Localized amyloid deposits (tumoral amyloidosis or amyloidoma) are uncommon form of amyloidosis and nodular pulmonary amyloidomas are rarely found. This incidental finding can mimic a bronchopulmonary neoplasm and may occur secondarily to an infectious, inflammatory or lymphoproliferative disease. We report a case of a 62-year-old female with long-standing systemic lupus erythematosus (SLE) with low compliance who presented with radiologically-verified solitary pulmonary nodule. Work-up included positron emission tomography-computed tomography (PET-CT) scan, which revealed hypermetabolic uptake of (18)F-fluorodeoxyglucose, and lobectomy was performed. Staining of the tissue was positive for Congo red and was green birefringent under polarized light. Immunohistochemical methods excluded lymphoproliferative disease and confirmed amyloidoma. SLE was controlled with antimalarials and glucocorticoids. Pulmonary amyloidoma should be considered in the differential diagnosis of solitary lung nodules

E2 allele of the Apolipoprotein E gene polymorphism is predictive for obesity status in Roma minority population of Croatia

<p>Abstract</p> <p>Background and Aims</p> <p>The Roma (Gypsies) are a transnational minority, founder population characterized by unique genetic background modeled by culturally determined endogamy. The present study explores whether the widely found cardiovascular diseases (CVD) risk effects of ACE I/D, APOE (ε2, ε3, ε4), eNOS-VNTR and LEP G2548A polymorphisms can be replicated in this specific population.</p> <p>Methods and Results</p> <p>The community-based study was carried on 208 adult Bayash Roma living in rural settlements of eastern and northern Croatia. Risk effect of four CVD candidate polymorphisms are related to the most prominent classical CVD risk phenotypes: obesity indicators (body mass index and waist circumference), hypertension and hyperlipidemia (triglycerides, HDL and LDL cholesterol). For all of them the standard risk cut-offs were applied. The extent to which the phenotypic status is related to genotype was assessed by logistic regression analysis. The strongest associations were found for ε2 allele of the APOE as a predictor of waist circumference (OR 3.301; 95%CI 1.254-8.688; p = 0.016) as well as for BMI (OR 3.547; 95%CI 1.471-8.557; p = 0.005). It is notable that ε3 allele of APOE gene turned out to be a protective genetic factor determining low lipid levels.</p> <p>Conclusion</p> <p>The strength of the relation and the similarity of the results obtained for both tested indicators of obesity provide firm evidence that APOE plays an important role in obesity development in the Roma population.</p

Mikrosatelitni biljezi kod graha (Phaseolus vulgaris L.)

Common bean is one of the most cultivated and consumed grain legumes worldwide, showing a high level of genetic diversity. Here is presented a detailed review of development and mapping of simple sequence repeats (SSRs, microsatellite markers) in the common bean. In the last 25 years, common bean has been the subject of numerous genetic studies, in which the identification and use of SSRs were conducted, and lead to the development of genetic maps. First genetic maps of common bean have been developed in the 1990s and were based on different molecular markers, and included domestication genes and important agronomic traits. Later, SSRs allowed the genetic mapping of more narrow crosses that are often of interest in plant breeding. Most genetic maps have been correlated with the core map established in the recombinant inbred population BAT93 x Jalo EEP558, and includes different markers, RFLP (restriction fragment length polymorphism), RAPD (random amplified polymorphic DNA), AFLP (amplified fragment length polymorphism), and SSRs in particular. More than 2,000 SSR markers are available for the common bean and they are an important tool to evaluate the genetic diversity of common bean landraces. SSRs are also useful to evaluate intra-specific diversity within the genus Phaseolus.Grah je jedna od najviše uzgajanih i najviše korištenih zrnatih mahunarki u svijetu koja ima visoku razinu genetske raznolikosti. U ovom radu je prikazan detaljan pregled razvoja i kartiranja mikrosatelitnih biljega (SSR, ponavljajuće jednostavne sekvence) kod graha. U posljednjih 25 godina, grah je bio predmetom brojnih genetskih istraživanja u kojima je provedena identifikacija i upotreba SSR-ova što je dovelo do razvoja genetskih karata. Prve genetske karte graha su razvijene u 1990-ima i bile su bazirane na različitim molekularnim biljezima, a uključivale su gene koji su povezani uz udomaćenje i važna agronomska svojstva. Kasnije su SSR-ovi omogućili genetsko kartiranje križanaca koji su često od interesa u oplemenjivanju bilja. Većina genetskih karata povezana je s osnovnom genetskom kartom uspostavljenom na rekombinantnoj inbred liniji BAT93 x Jalo EEP558, koja uključuje različite biljege kao što su RFLP (polimorfizam dužine restrikcijskih ulomaka), RAPD (nasumično umnožena polimorfna DNA), AFLP (polimorfizam dužine umnoženih ulomaka) te SSR-ove. Više od 2 000 SSR biljega je dostupno za grah i oni su važan alat za procjenu genetske raznolikosti tradicijskih kultivara graha. SSR-ovi su također korisni za procjenu unutarvrsne raznolikosti unutar roda Phaseolus

Gut microbiota in mucosa and feces of newly diagnosed, treatment-naïve adult inflammatory bowel disease and irritable bowel syndrome patients

The knowledge on how gut microbes contribute to the inflammatory bowel disease (IBD) at the onset of disease is still scarce. We compared gut microbiota in newly diagnosed, treatment-naïve adult IBD (Crohn’s disease (CD) and ulcerative colitis (UC)) to irritable bowel syndrome (IBS) patients and healthy group. Mucosal and fecal microbiota of 49 patients (13 UC, 10 CD, and 26 IBS) before treatment initiation, and fecal microbiota of 12 healthy subjects was characterized by 16S rRNA gene sequencing. Mucosa was sampled at six positions, from terminal ileum to rectum. We demonstrate that mucosal microbiota is spatially homogeneous, cannot be differentiated based on the local inflammation status and yet provides bacterial footprints superior to fecal in discriminating disease phenotypes. IBD groups showed decreased bacterial diversity in mucosa at all taxonomic levels compared to IBS. In CD and UC, Dialister was significantly increased, and expansion of Haemophilus and Propionibacterium characterized UC. Compared to healthy individuals, fecal microbiota of IBD and IBS patients had increased abundance of Proteobacteria, Enterobacteriaceae, in particular. Shift toward reduction of Adlercreutzia and butyrate-producing taxa was found in feces of IBD patients. Microbiota alterations detected in newly diagnosed treatment-naïve adult patients indicate that the microbiota changes are set and detectable at the disease onset and likely have a discerning role in IBD pathophysiology. Our results justify further investigation of the taxa discriminating between disease groups, such as H. parainfluenzae, R. gnavus, Turicibacteriaceae, Dialister, and Adlercreutzia as potential biomarkers of the disease

The role of a nurse in preventing and treatment children with obstructive bronchitis

Infekcije dušnih putova dijelimo na infekcije gornjih dišnih putova i na infekcije donjih dišnih putova. U infekcije donjih dišnih putova ubraja se bronhitis. Akutni opstrukcijski bronhitis predstavljaju upala i edem bronhalne sluznice te se uglavnom pojavljuje između druge i treće godine života, kada zbog anatomske građe dišnih putova odnosno malog volumena lakše dođe do opstrukcije lumena bronha sekretom. (2) Prevencija opstruktivnog bronhitisa obuhvaća: zdravstveni odgoj roditelja i zdravstveni odgoj djece. Za zdravstveni odgoj roditelja važno je savjetovanje istih jer upravo o njima ovisi zdravlje njihove djece. Od važnosti izbjegavanja zadimljenih prostora, boravka djece na svježem zraku te cijepljenju djece. Kod zdravstvenog odgoja djece važna je edukacija o infekcijama i zaštiti od istih, o osobnoj higijeni i higijeni usne šupljine. U liječenje djece s opstruktivnim bronhitisom važna je uloga medicinske sestre pri provedbi dijagnostičkih postupaka, primjeni lijekova te promatranju bolesnika (izgled bolesnika, vitalni znakovi, izlučine te ostali simptomi i znakovi). Također je važna i edukacija oboljele djece i njihovih roditelja o zdravstvenom ponašanju te korištenju pomagala i provođenju vježbi disanja. Uloga medicinske sestre u prevenciji opstruktivnog bronhitisa u djece je smanjiti rizik od pojavnosti bolesti kao i rizik od ponovljenih epizoda opstrukcije edukacijom roditelja te same djece. U liječenju su važne kompetencije medicinske sestre u obavljanju dijagnostičkih postupaka, primjeni lijekova te provedbi zdravstvene njege.We share infections of the respiratory ways on infections of superior respiratory ways and on infections of inferior respiratory ways. In infections of inferior respiratory ways it is included bronchitis. Acute obstructive bronchitis indicate abscess and edema of bronchial mucus and usually comes between two and three years, when because of anatomy, structure of respiratory ways, with reference to small volume, comes easier to obstruction of bronchial volume.(2) Preventing of obstructive bronchitis includes: health education of parents and health education of children. For health education of parents it is important to advise them because their children's health depends on themselves. The importance of avoiding smoke areas, abode children on fresh air and vaccinate the children. In health education of children it is important to educate them about the infections and about protection of them, about the personal hygiene and the oral hygiene. In treating children with obstructive bronchitis it is important the role of a nurse in the implementation of diagnostic procedures, in the use of drugs and observing the patients ( appearance of patients, vital signs and the other signs and symptoms). It is also important the education of sick children and their parents about, health behavior and the use of aids and carrying out breathing exercises. The role of nurses in the prevention of obstructive bronchitis in children is to reduce the risk of disease emergence as well as the risk of repeated episodes of obstruction by educating parents and children themselves. During the treatment are important competencies of nurses in performing diagnostic procedures, medication and implementation of health care

The role of a nurse in preventing and treatment children with obstructive bronchitis

Infekcije dušnih putova dijelimo na infekcije gornjih dišnih putova i na infekcije donjih dišnih putova. U infekcije donjih dišnih putova ubraja se bronhitis. Akutni opstrukcijski bronhitis predstavljaju upala i edem bronhalne sluznice te se uglavnom pojavljuje između druge i treće godine života, kada zbog anatomske građe dišnih putova odnosno malog volumena lakše dođe do opstrukcije lumena bronha sekretom. (2) Prevencija opstruktivnog bronhitisa obuhvaća: zdravstveni odgoj roditelja i zdravstveni odgoj djece. Za zdravstveni odgoj roditelja važno je savjetovanje istih jer upravo o njima ovisi zdravlje njihove djece. Od važnosti izbjegavanja zadimljenih prostora, boravka djece na svježem zraku te cijepljenju djece. Kod zdravstvenog odgoja djece važna je edukacija o infekcijama i zaštiti od istih, o osobnoj higijeni i higijeni usne šupljine. U liječenje djece s opstruktivnim bronhitisom važna je uloga medicinske sestre pri provedbi dijagnostičkih postupaka, primjeni lijekova te promatranju bolesnika (izgled bolesnika, vitalni znakovi, izlučine te ostali simptomi i znakovi). Također je važna i edukacija oboljele djece i njihovih roditelja o zdravstvenom ponašanju te korištenju pomagala i provođenju vježbi disanja. Uloga medicinske sestre u prevenciji opstruktivnog bronhitisa u djece je smanjiti rizik od pojavnosti bolesti kao i rizik od ponovljenih epizoda opstrukcije edukacijom roditelja te same djece. U liječenju su važne kompetencije medicinske sestre u obavljanju dijagnostičkih postupaka, primjeni lijekova te provedbi zdravstvene njege.We share infections of the respiratory ways on infections of superior respiratory ways and on infections of inferior respiratory ways. In infections of inferior respiratory ways it is included bronchitis. Acute obstructive bronchitis indicate abscess and edema of bronchial mucus and usually comes between two and three years, when because of anatomy, structure of respiratory ways, with reference to small volume, comes easier to obstruction of bronchial volume.(2) Preventing of obstructive bronchitis includes: health education of parents and health education of children. For health education of parents it is important to advise them because their children's health depends on themselves. The importance of avoiding smoke areas, abode children on fresh air and vaccinate the children. In health education of children it is important to educate them about the infections and about protection of them, about the personal hygiene and the oral hygiene. In treating children with obstructive bronchitis it is important the role of a nurse in the implementation of diagnostic procedures, in the use of drugs and observing the patients ( appearance of patients, vital signs and the other signs and symptoms). It is also important the education of sick children and their parents about, health behavior and the use of aids and carrying out breathing exercises. The role of nurses in the prevention of obstructive bronchitis in children is to reduce the risk of disease emergence as well as the risk of repeated episodes of obstruction by educating parents and children themselves. During the treatment are important competencies of nurses in performing diagnostic procedures, medication and implementation of health care

The role of the Vlax Roma in shaping the European Romani maternal genetic history

The Roma are comprised of many founder groups of common Indian origins but different socio-cultural characteristics. The Vlax Roma are one of the founder Roma populations characterized by a period of bondage in the historic Romanian principalities, and by the archaic Romanian language. Demographic history suggests different migration routes of Roma populations, especially after their arrival in Mesopotamia and the eastern boundary of the Byzantine Empire. Although various genetic studies of uniparental genetic markers showed a connection between Roma genetic legacy and their migration routes, precise sampling of Roma populations elucidates this relationship in more detail. In this study, we analyzed mitochondrial DNA of 384 Croatian Vlax Roma from two geographic locations in the context of 734 European Roma samples. Our results show that Roma migration routes are marked with two Near-Eastern haplogroups, X2 and U3, whose inverse proportional incidence clearly separates the Balkan and the Vlax Roma from other Roma populations that reached Europe as part of the first migration wave. Spatial and temporal characteristics of these haplogroups indicate a possibility of their admixture with Roma populations before arrival in Europe. Distribution of haplogroup M35 indicates that all Vlax Roma populations descend from one single founder population that might even reach back to the original ancestral Indian population. Founder effects followed by strict endogamy rules can be traced from India to contemporary small, local communities, as in the case of two Croatian Vlax Roma populations that show clear population differentiation despite similar origins and shared demographic history