BACKGROUND: This study was carried out to identify racial/ethnic differences in predictors of prostate-specific antigen (PSA) screening in a group of prostate cancer patients. METHODS: In this cross-sectional study, a total of 935 prostate cancer patients were recruited from the Texas Medical Center, Houston, between 1996 and 2004. It included 372 Caucasians, 346 African Americans and 217 Hispanics. A structured questionnaire was used to collect data on socio-demographic and life-style related variables, and self-reported PSA screening history through personal interview. RESULTS: African American (54.4%) and Hispanic patients (42.3%) were significantly less likely (p = 0.004 and p < 0.001, respectively) to report having had PSA screening than Caucasian patients (63.2%). Only annual check-up was found to be a significant predictor of PSA screening in Hispanics. Among Caucasians, education and annual check-up were significant predictors of PSA screening; whereas in African Americans, education, annual check-up, marital status and BMI were significant predictors of PSA screening. CONCLUSIONS: The rates of PSAscreening and its predictors varied by race/ethnicity in this tri-ethnic population. Health-education programs and culturally appropriate educational outreach efforts, especially targeted for high-risk groups, are needed to reduce these disparities.

• MeSH
• běloši statistika a číselné údaje   MeSH
• časná detekce nádoru statistika a číselné údaje   MeSH
• černoši nebo Afroameričané statistika a číselné údaje   MeSH
• dospělí MeSH
• etnicita statistika a číselné údaje   MeSH
• Hispánci a Latinoameričané statistika a číselné údaje   MeSH
• lidé středního věku MeSH
• lidé MeSH
• prostatický specifický antigen krev   MeSH
• průřezové studie MeSH
• rasové skupiny statistika a číselné údaje   MeSH
• senioři MeSH
• socioekonomické faktory MeSH
• zdravé chování MeSH
• životní styl MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Research Support, N.I.H., Extramural MeSH
• Research Support, U.S. Gov't, Non-P.H.S. MeSH
• Geografické názvy
• Texas MeSH
• Názvy látek
• prostatický specifický antigen MeSH

OBJECTIVES: To examine the effect of specific Asian ethnic subgroups on stage at presentation and cancer-specific mortality in non-metastatic upper tract urothelial carcinoma among North American upper tract urothelial carcinoma Asian patients treated with radical nephroureterectomy. METHODS: We relied on the Surveillance, Epidemiology and End Results database, from 2004 to 2016. Kaplan-Meier plots and multivariable Cox regression models predicting cancer-specific mortality were used. RESULTS: Of 584 upper tract urothelial carcinoma patients, 173 (29.6%) were Chinese versus 130 (22.3%) Japanese versus 68 (11.6%) Korean versus 64 (11.0%) Filipino versus 40 (6.8%) Vietnamese versus 109 (18.7%) other. Vietnamese and Chinese patients showed the highest rates of T4 N0 M0 and/or T1-4 N1-2 M0 (25.0% and 18.5%, respectively), relative to other Asian ethnic subgroups. In Kaplan-Meier plots, Vietnamese patients showed the highest cancer-specific mortality rate. In multivariable models, Vietnamese ethnicity also independently predicted higher cancer-specific mortality (hazard ratio 2.15, P = 0.02 and hazard ratio 1.96, P = 0.03), relative to Japanese and Chinese patients. All other Asian ethnic subgroups showed similar cancer-specific mortality patterns. CONCLUSION: Vietnamese and Chinese patients are at a stage disadvantage at upper tract urothelial carcinoma diagnosis, relative to all other Asian ethnicities. After adjustment for stage, only Vietnamese patients showed a survival disadvantage relative to all other Asian ethnic subgroups. As a result, it appears that Vietnamese patients not only present at a higher upper tract urothelial carcinoma stage, but additionally appear to harbor upper tract urothelial carcinoma that progresses at a faster rate than in other Asian ethnic subgroups.

• Klíčová slova
• Chinese, Epidemiology and End Results database, Surveillance, ethnicity, race, survival,
• MeSH
• etnicita MeSH
• karcinom z přechodných buněk * chirurgie   MeSH
• lidé MeSH
• nádory močového měchýře * MeSH
• nádory močovodu * chirurgie   MeSH
• retrospektivní studie MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Severní Amerika epidemiologie   MeSH

The Fulani ethnic group has relatively better protection from Plasmodium falciparum malaria, as reflected by fewer symptomatic cases of malaria, lower infection rates, and lower parasite densities compared to sympatric ethnic groups. However, the basis for this lower susceptibility to malaria by the Fulani is unknown. The incidence of classic malaria resistance genes are lower in the Fulani than in other sympatric ethnic populations, and targeted SNP analyses of other candidate genes involved in the immune response to malaria have not been able to account for the observed difference in the Fulani susceptibility to P.falciparum. Therefore, we have performed a pilot study to examine global transcription and DNA methylation patterns in specific immune cell populations in the Fulani to elucidate the mechanisms that confer the lower susceptibility to P.falciparum malaria. When we compared uninfected and infected Fulani individuals, in contrast to uninfected and infected individuals from the sympatric ethnic group Mossi, we observed a key difference: a strong transcriptional response was only detected in the monocyte fraction of the Fulani, where over 1000 genes were significantly differentially expressed upon P.falciparum infection.

• Klíčová slova
• Fulani, P. falciparum, chromosomes, genes, human, immunology, inflammasome, innate immunity, malaria, monocyte, transcriptome,
• MeSH
• etnicita * MeSH
• genetická transkripce * MeSH
• kultivované buňky MeSH
• lidé MeSH
• metylace DNA MeSH
• monocyty imunologie   MeSH
• odolnost vůči nemocem * MeSH
• pilotní projekty MeSH
• stanovení celkové genové exprese MeSH
• tropická malárie genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

BACKGROUND: The Roma are a European ethnic minority threatened by several recessive diseases. Variants in MANBA cause a rare lysosomal storage disorder named beta-mannosidosis whose clinical manifestation includes deafness and mental retardation. Since 1986, only 23 patients with beta-mannosidosis and biallelic MANBA variants have been described worldwide. RESULTS: We now report on further 10 beta-mannosidosis patients of Roma origin from eight families in the Czech and Slovak Republics with hearing loss, mental retardation and homozygous pathogenic variants in MANBA. MANBA variant c.2158-2A>G screening among 345 anonymized normal hearing controls from Roma populations revealed a carrier/heterozygote frequency of 3.77%. This is about 925 times higher than the frequency of this variant in the gnomAD public database and classifies the c.2158-2A>G variant as a prevalent, ethnic-specific variant causing hearing loss and mental retardation in a homozygous state. The frequency of heterozygotes/carriers is similar to another pathogenic variant c.71G>A (p.W24*) in GJB2, regarded as the most frequent variant causing deafness in Roma populations. CONLCUSION: Beta-mannosidosis, due to a homozygous c.2158-2A>G MANBA variant, is an important and previously unknown cause of hearing loss and mental retardation among Central European Roma.

• Klíčová slova
• Beta-mannosidosis, Ethnic-specific variant, Hearing loss, Mental retardation, Roma,
• MeSH
• beta-mannosidóza * MeSH
• etnicita MeSH
• hluchota * genetika   MeSH
• lidé MeSH
• menšiny MeSH
• nedoslýchavost * genetika   MeSH
• Romové * genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• Slovenská republika epidemiologie   MeSH

OBJECTIVES: To quantify the magnitude of differences between observed overall survival and respective, age-adjusted Social Security Administration life tables-derived life expectancy in Caucasian, African American, Hispanic/Latino and Asian metastatic prostate cancer patients. Furthermore, to test for differences in cancer-specific mortality and other-cause mortality according to race/ethnicity. METHODS: We relied on the 2004-2006 Surveillance, Epidemiology and End Results database to identify Caucasian, African American, Hispanic/Latino and Asian metastatic prostate cancer patients. Social Security Administration life tables were used to compute 10-year life expectancy for comparisons with observed overall survival. Poisson regression plots showed cancer-specific mortality relative to other-cause mortality for each race/ethnicity. RESULTS: A total of 2574 (64.2%) patients were Caucasian, 753 (18.8%) were African American, 453 (11.3%) were Hispanic/Latino and 227 (5.7%) were Asian, respectively. The median age at diagnosis was 72 years in Caucasian patients, 68 years in African American patients, 70 years in Hispanic/Latino patients and 72 years in Asian patients. Observed overall survival rates were always lower compared with respective predicted life expectancy. The magnitude of the difference between observed overall survival and predicted life expectancy at 10 years was highest in African American patients (-52.2%), followed by Caucasian patients (-48.3%), Hispanic/Latino patients (-46.1%) and Asian patients (-37.4%). African American patients showed the highest cancer-specific mortality rates (71.1%) and second-highest other-cause mortality rates (17.4% vs highest 18.4% in Caucasian patients), despite having the youngest age at diagnosis. Asian patients showed the lowest cancer-specific mortality rates (65.5%, P < 0.0001) and lowest other-cause mortality rates (13.3%, P = 0.04), despite having the oldest age at diagnosis. CONCLUSIONS: Despite having the youngest age at diagnosis, African American patients show the least favorable survival profile in metastatic prostate cancer. Conversely, Asian patients show the most favorable survival profile in metastatic prostate cancer, despite having the oldest age at diagnosis.

• Klíčová slova
• Epidemiology and End Results, Social Security Administration, Surveillance, life expectancy, life table, metastatic prostate cancer,
• MeSH
• běloši MeSH
• černoši nebo Afroameričané MeSH
• etnicita * MeSH
• lidé MeSH
• naděje dožití MeSH
• nádory prostaty * MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Recently published studies showed that age assessment methods are population specific. Authors analyse the senescence changes in pubic symphysis and sacro-pelvic surface of a pelvic bone using data mining methods. The multi-ethnic data set consists of 956 adult individuals ranging from 19 to 100 years of age derived from 9 different populations with known age and sex. The results show that accurate and reliable age assessment is possible to three age classes (less than 30, 30-60, 60 and more). The study confirms that population specificity of the methods exists and the variable "sex" is not important in age classification.

• MeSH
• algoritmy MeSH
• data mining metody   MeSH
• dospělí MeSH
• etnicita * MeSH
• lidé středního věku MeSH
• lidé MeSH
• os ilium anatomie a histologie   MeSH
• rasové skupiny MeSH
• ROC křivka MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• soudní antropologie MeSH
• symphysis pubica anatomie a histologie   MeSH
• určení kostního věku metody   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Pathogenic variants of ADAM22 affecting either its biosynthesis and/or its interactions with either LGI1 and/or PSD-95 have been recently identified in individuals with developmental and epileptic encephalopathy. Here, we describe a girl with seizures, delayed psychomotor development, and behavioural disorder, carrying a homozygous variant in ADAM22 (NM_021723.5:c.2714C > T). The variant has a surprisingly high frequency in the Roma population of the Czech and Slovak Republic, with 11 of 213 (∼5.2%) healthy Roma individuals identified as heterozygous carriers. Structural in silico characterization revealed that the genetic variant encodes the missense variant p.S905F, which localizes to the PDZ-binding motif of ADAM22. Studies in transiently transfected mammalian cells revealed that the variant has no effect on biosynthesis and stability of ADAM22. Rather, protein-protein interaction studies showed that the p.S905F variant specifically impairs ADAM22 binding to PSD-95 and other proteins from a family of membrane-associated guanylate kinases, while it has only minor effect on ADAM22-LGI1 interaction. Our study indicates that a significant proportion of epilepsy in patients of Roma ancestry may be caused by homozygous c.2714C > T variants in ADAM22. The study of this ADAM22 variant highlights a novel pathogenic mechanism of ADAM22 dysfunction and reconfirms an essential role of interaction of ADAM22 with membrane-associated guanylate kinases in seizure protection in humans.

• Klíčová slova
• ethnic-specific variant, focal epilepsy, insufficient ADAM22–MAGUK interaction,
• Publikační typ
• časopisecké články MeSH

Mitochondrial DNA (mtDNA) variability was studied in a sample of 179 individuals representing the Czech population of Western Bohemia. Sequencing of two hypervariable segments, HVS I and HVS II, in combination with screening of coding-region haplogroup-specific RFLP markers revealed that most Czech mtDNAs belong to the common West Eurasian mitochondrial haplogroups (H, pre-V HV*, J, T, U, N1, W, and X). However, about 3% of Czech mtDNAs encompass East Eurasian lineages (A, N9a, D4, M*). A comparative analysis with published data showed that different Slavonic populations in Central and Eastern Europe contain small but marked amounts of East Eurasian mtDNAs. We suggest that the presence of East Eurasian mtDNA haplotypes is not an original feature of the gene pool of the proto-Slavs but rather may be mostly a consequence of admixture with Central Asian nomadic tribes, who migrated into Central and Eastern Europe in the early Middle Ages.

• MeSH
• etnicita MeSH
• frekvence genu * MeSH
• genetická variace * MeSH
• genetické testování MeSH
• haplotypy MeSH
• lidé MeSH
• mitochondriální DNA genetika   MeSH
• polymorfismus délky restrikčních fragmentů MeSH
• populační genetika * MeSH
• populační skupiny MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• východní Evropa MeSH
• Názvy látek
• mitochondriální DNA MeSH

Multiple-cause-of-death data have not yet been applied to the study of racial/ethnic differences in causal chains of events leading to death, nor they have been used to examine racial/ethnic disparities in cause-of-death certification. We use publicly available 2019 US death certificate data to reassemble chains of morbid events leading to death. From them, we construct and analyze directed multiple cause of death networks by race and sex of deaths aged 60+. Three perspectives to measure disparities are employed: (i) relative prevalence of cause-of-death-pairs, (ii) strength of associations between diseases, (iii) similarities in transition matrices. Non-Hispanic Blacks (NHB) had overall lower prevalence of cause of death pairs, Hispanics (HIS) were burdened more by alcohol-related mortality and Asian and Pacific Islanders (API) exceeded in transitions to cerebrovascular diseases. Lower similarity was observed in transitions to external causes of death, dementia and Alzheimer's disease, pulmonary heart diseases, interstitial respiratory diseases, and diseases of the liver. After excluding rare diseases, the similarity further decreased for ill-defined conditions, diabetes mellitus, other cardiovascular diseases, diseases of the pleura, and anemia. To sum up, races/ethnicities not only vary in structure and timing of death but they differ in morbid processes leading to death as well.

• MeSH
• analýza sociálních sítí MeSH
• asijští Američané, domorodí Havajci a obyvatelé tichomořských ostrovů statistika a číselné údaje   MeSH
• běloch statistika a číselné údaje   MeSH
• černoši nebo Afroameričané statistika a číselné údaje   MeSH
• diabetes mellitus MeSH
• etnicita * statistika a číselné údaje   MeSH
• Hispánci a Latinoameričané statistika a číselné údaje   MeSH
• indián nebo domorodec z Aljašky statistika a číselné údaje   MeSH
• kardiovaskulární nemoci MeSH
• lidé středního věku MeSH
• lidé MeSH
• morbidita MeSH
• mortalita * etnologie   MeSH
• nemoc * etnologie   MeSH
• příčina smrti * MeSH
• rasové faktory MeSH
• sexuální faktory MeSH
• zdravotní nespravedlnost * MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Spojené státy americké epidemiologie   MeSH

PURPOSE: We hypothesized that differences in active treatment rates may exist according to race/ethnicity in favorable as well as unfavorable intermediate risk prostate cancer. MATERIALS AND METHODS: We relied on the Surveillance, Epidemiology, and End Results 18 database 2010-2015. We stratified according to 3 racial/ethnic groups (White vs Black vs Hispanic) and prostate cancer baseline characteristics (prostate specific antigen, clinical T stage, Gleason group grading, percentage of biopsy cores). We tabulated active treatment rates (radical prostatectomy, external beam radiotherapy) without and with adjustment for baseline age and prostate cancer characteristics. RESULTS: Baseline prostate specific antigen, clinical T stage, Gleason grade and percentage of positive biopsy cores differed according to racial/ethnic groups in both favorable and unfavorable intermediate risk prostate cancer patients (all p <0.05). Similarly, radical prostatectomy and external beam radiotherapy rates differed according to race/ethnicity in both favorable and unfavorable intermediate risk prostate cancer patients. Radical prostatectomy and external beam radiotherapy rates respectively ranged from 31.7%-41.8% and 26.3%-31.0% in favorable intermediate risk cases and from 33.4%-43.9% and 30.9%-35.5% in unfavorable intermediate risk prostate cancer, across the 3 race/ethnicity groups (both p <0.05). The above heterogeneity in active treatment rates disappeared and marginal differences remained after adjustment for baseline age and prostate cancer characteristics. CONCLUSIONS: Interpretation of active treatment rates in favorable and unfavorable intermediate risk prostate cancer may be severely biased, unless detailed and systematic consideration or adjustment for baseline age and prostate cancer characteristic is enforced.

• Klíčová slova
• African Americans, Hispanic Americans, prostatic neoplasms, race factors,
• MeSH
• běloši statistika a číselné údaje   MeSH
• černoši nebo Afroameričané statistika a číselné údaje   MeSH
• disparity zdravotní péče statistika a číselné údaje   MeSH
• Hispánci a Latinoameričané statistika a číselné údaje   MeSH
• hodnocení rizik MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory prostaty krev   patologie   terapie   MeSH
• prostatický specifický antigen krev   MeSH
• retrospektivní studie MeSH
• senioři MeSH
• staging nádorů MeSH
• stupeň nádoru MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• srovnávací studie MeSH
• Názvy látek
• prostatický specifický antigen MeSH