OBJECTIVES: The aim of our study was to investigate the correlation between several clinical parameters and the appearance of atopic manifestations (atopic eczema, food allergy, wheezing bronchitis, allergic rhinoconjunctivitis) in the first four years of life. METHODS: A total of 139 unselected full-term newborns were included in a prospective follow up from birth to age 4. Cord blood total immunoglobulin E (cIgE) and cord blood absolute eosinophil count (cEo), positive family history of allergy, maternal smoking during pregnancy, mode of delivery, and duration of exclusive and overall breastfeeding were evaluated as predictors for appearance of atopic manifestations. RESULTS: We found that children with a positive family history of both mother and father are 19.03 times more likely to develop atopic manifestations and those with a positive family history of only mothers are 12.55 times more likely to develop atopy compared with children with a negative family history. Neonates with cord blood eosinophilia had 5.30 times higher chances for developing atopic manifestations. No statistically significant associations were found between cIgE (p = 0.099), mode of delivery (p = 0.379), maternal smoking (p = 0.661), exclusive (p = 0.867) and overall breastfeeding duration (p = 0.675) and the presence of atopic manifestations up to age 4. CONCLUSIONS: A positive medical history, especially of mothers and cEo, seem to be predictive in screening for the onset of allergic diseases.

• Klíčová slova
• allergy, children, cord blood, eosinophils, family history,
• MeSH
• alergie epidemiologie   genetika   MeSH
• anamnéza * MeSH
• eozinofily * MeSH
• fetální krev cytologie   MeSH
• kojenec MeSH
• lidé MeSH
• novorozenec MeSH
• počet leukocytů MeSH
• předškolní dítě MeSH
• prospektivní studie MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• dějiny 17. století MeSH
• dějiny 18. století MeSH
• dějiny 19. století MeSH
• dějiny 20. století MeSH
• lékaři dějiny   MeSH
• rodina MeSH
• Check Tag
• dějiny 17. století MeSH
• dějiny 18. století MeSH
• dějiny 19. století MeSH
• dějiny 20. století MeSH
• Publikační typ
• biografie MeSH
• časopisecké články MeSH
• historické články MeSH
• Geografické názvy
• Československo MeSH

• O autorovi
• Skréty family
• Cermák family
• Klenka family

BACKGROUND: Men with germline BRCA1/2 mutations are not well studied compared to their female counterparts. This study evaluates the cancer characteristics, family history of cancer, and outcomes of male BRCA1/2 mutation carriers. METHODS: All men with germline BRCA1/2 mutations who attended genetic assessment between October 1995 and October 2019 at the Medical University of Vienna were identified. Clinicohistopathological features, family history of cancer, and outcomes were assessed by mutation status. RESULTS: Of the 323 men included, 45 (13.9%) had a primary cancer diagnosis, many of whom were BRCA2 carriers (75.5%). Breast cancer (BC) was the most common cancer (57.8%) followed by prostate cancer (15.6%). Invasive ductal carcinoma and hormone receptor positive tumors were the most common. Among 26 BC-affected patients, 42% did not have any relatives with cancer. Parent of origin was only known in half of the 26 men, with 42% of them inherited through the maternal lineage versus 8% through the paternal. BRCA2 carriers and those with a family history of BC had worse overall survival (20 y vs. 23 y BRCA1 carriers; P = 0.007; 19 y vs. 21 y for those without family history of BC; P = 0.036). CONCLUSION: Male BRCA2 carriers were most likely to develop cancer and had worse prognosis. In our dataset, BC was the most common cancer, likely due to referral bias. Not all mutation carriers present with BC or have a family history of cancer to warrant genetic testing.

• Klíčová slova
• BRCA mutations, cancer spectrum, family history, hereditary cancer, men, parent of origin,
• Publikační typ
• časopisecké články MeSH

BACKGROUND: While family history (FHx) of prostate cancer (PCa) increases the risk of PCa, comparably less is known regarding the impact of FHx on pathologic and oncologic outcomes after radical prostatectomy (RP). METHODS: We retrospectively reviewed our multicenter database comprising 6,041 nonmetastatic PCa patients treated with RP. Patients with a FHx of PCa in one or more first-degree relatives were considered as FHx positive. We examined the association of FHx with pathologic outcomes and biochemical recurrence (BCR) using logistic and Cox regression models, respectively. RESULTS: In total, 1,677 (28%) patients reported a FHx of PCa. Compared to patients without FHx, those with, were younger at RP (median age of 59 vs. 62 years, p < 0.01), and had significantlymore favorable biopsy and RP histopathologic findings. On multivariable logistic regression analysis, positive FHx was associated with extracapsular extension (odds ratio [OR] 0.77, 95% confidence interval [CI] 0.66-0.90, p < 0.01; model AUC 0.73) and upgrading (OR 0.70, 95% CI 0.62-0.80, p < 0.01; model AUC 0.68). Incorporating FHx significantly improved the AUC of the base model for upgrading (p < 0.01). Positive FHx was not associated with BCR in pre- and postoperative multivariable models (p = 0.1 and p = 0.7); c-indexes of Cox multivariable models were: 0.73 and 0.82, respectively. CONCLUSIONS: We found that patients with clinically nonmetastatic PCa who have positive FHx of PCa undergo RP at a younger age and have more favorable pathologic outcomes. Nevertheless, FHx of PCa did not confer better BCR rates, suggesting that FHx leads to potentially early detection and treatment without impact on BCR.

• Klíčová slova
• Family history, biochemical recurrence, prostate, prostate cancer, radical prostatectomy,
• Publikační typ
• časopisecké články MeSH

• MeSH
• dějiny 16. století MeSH
• dějiny 17. století MeSH
• dějiny 18. století MeSH
• dějiny lékárnictví MeSH
• Check Tag
• dějiny 16. století MeSH
• dějiny 17. století MeSH
• dějiny 18. století MeSH
• Publikační typ
• biografie MeSH
• časopisecké články MeSH
• historické články MeSH
• Geografické názvy
• Československo MeSH

• O autorovi
• Spillenberger family

Acute lymphoblastic leukemia (ALL) is the most common childhood leukemia, while the other types, acute myeloid leukemia (AML), chronic lymphocytic leukemia (CLL), and chronic myeloid leukemia (CML) are much rarer. While data on familial risks for childhood ALL have been emerging, such data for the other childhood leukemias are hardly available. We aim to fill in the gap of knowledge by assessing familial clustering of each childhood leukemia with childhood and adult leukemia and with any cancer. We identified 4461 childhood leukemias from the Swedish Cancer Registry and obtained their family members from the Multigeneration Register. Standardized incidence ratios (SIRs) were 3.34 for singleton siblings both diagnosed with ALL before age 20 years and 1.64 for those who had a family member diagnosed with ALL in adult age. Other childhood leukemias showed no familial risk, but childhood ALL risk was increased to 1.40 when adult family members were diagnosed with CLL. Childhood ALL was associated with endometrial cancer, and female ALL patients showed increased risk when family members were diagnosed with testicular cancer, melanoma, and skin squamous cell carcinoma. Childhood CLL was associated with rectal cancer, and childhood AML was associated with pancreatic and bladder cancers. As most of these associations are reported for the first time, there is a need to replicate the findings from independent sources.

• Klíčová slova
• cancer registry, familial risk, family database, leukemia, susceptibility genes,
• Publikační typ
• časopisecké články MeSH

Rho GTPases constitute a significant subgroup of the eukaryotic Ras superfamily of small GTPases implicated in the regulation of diverse cellular processes, such as the dynamics of the actin cytoskeleton, establishment, and maintenance of cell polarity and membrane trafficking. Whereas a few eukaryotes lack Rho genes, a majority of species typically bear multiple Rho paralogs, raising a question about the origin of the family and the paths of its diversification in individual eukaryotic lineages. In this chapter, we ruminate on several aspects of the evolutionary history of the Rho family and methodological challenges of its reconstruction. First, we provide an updated survey of Rho GTPases in diverse eukaryotic branches, demonstrating almost ubiquitous occurrence of Rho genes across the eukaryotic phylogeny most consistent with the presence of at least one Rho gene already in the last eukaryotic common ancestor. Second, we discuss the obstacles in reconstructing the history of gene duplications giving rise to the extant diversity of Rho paralogs in different species, and point to numerous limitations posed by the current phylogenetic methodology. Third, as a case study demonstrating various issues of data collection, phylogenetic analyses and interpretations of trees, we present an analysis of the Rho family in the fungal kingdom, revealing the existence of at least four separate paralogs (Cdc42, Rac, Rho1, and Rho4) in early fungi and subsequent potentially independent expansions of the family in different fungal subgroups. We conclude with the warning that the currently dominating perception of the Rho phylogeny is biased by the metazoan (and especially vertebrate) perspective, and a new, more global view is to be worked out when a better genome sampling and more adequate methods of phylogenetic inference are employed.

• MeSH
• delece genu MeSH
• duplikace genu MeSH
• fylogeneze MeSH
• houby enzymologie   genetika   MeSH
• molekulární evoluce MeSH
• molekulární sekvence - údaje MeSH
• multigenová rodina * MeSH
• rho proteiny vázající GTP klasifikace   genetika   MeSH
• sekvence aminokyselin MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• rho proteiny vázající GTP MeSH

The relationship between baroreflex sensitivity (BRS) and inflammatory vascular biomarker Lipoprotein associated phospholipase A2 (Lp-PLA2) in subjects with high normal blood pressure (HNBP, prehypertensives) with a positive family history of hypertension (FHH+) and hypertension history free control subjects (FHH-) was evaluated. A total of 24 HNBP participants (age 39.5 ± 2.5 years, 18 male/ 6 female) were studied. 14 HNBP subjects FHH+ were compared to 10 HNBP participants FHH-, being of similar age and body mass index. BRS (ms/mmHg) was determined by the sequence and spectral methods (five-minute non-invasive beat-to-beat recording of blood pressure and RR interval, controlled breathing at a frequency of 0.33 Hz). Venous blood was analyzed for Lp-PLA2 biomarker of vascular inflammation and atherothrombotic activity. A significant negative correlation between spontaneous BRS obtained by both methods and systolic blood pressure (BP) was present (BRS spect r = -0.54, P<0.001, BRS seq r = -0.59, P<0.001). BRS obtained by sequence and spectral methods were reduced in HNBP FHH+ compared to the group of HNBP FHH- (P = 0.0317 BRS seq, P = 0.0395 BRS spect). Lp-PLA2 was significantly higher in HNBP FHH+ compared to FHH- controls (P<0.05). Lp-PLA2 was negatively correlated with BRS obtained by sequence method (r = -0.798, R2 = 0.636, P<0.001) in the HNBP FHH+ subjects. These findings demonstrate that reduced baroreflex sensitivity, as a marker of autonomic dysfunction, is associated with vascular inflammation, predominantly in otherwise healthy participants with a positive family history of hypertension who could predispose to increased risk of hypertension. We conclude that our transversal study suggests that a lowbaroreflex sensitivity could be an early sign of autonomic dysfunction even in the prehypertensive period, and to corroborate these findings, a longitudinal study is needed.

• MeSH
• 1-alkyl-2-acetylglycerofosfocholinesterasa krev   MeSH
• anamnéza MeSH
• autonomní nervový systém patofyziologie   MeSH
• baroreflex * MeSH
• biologické markery krev   MeSH
• dospělí MeSH
• hypertenze krev   diagnóza   enzymologie   patofyziologie   MeSH
• krevní tlak * MeSH
• lidé středního věku MeSH
• lidé MeSH
• prediktivní hodnota testů MeSH
• rizikové faktory MeSH
• studie případů a kontrol MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• 1-alkyl-2-acetylglycerofosfocholinesterasa MeSH
• biologické markery MeSH
• PLA2G7 protein, human MeSH Prohlížeč

In order to examine the relationship between certain risk factors for atherosclerosis and family history of myocardial infarction, we compared a group of children (n = 51) whose parents had survived myocardial infarction (n = 34) with a control group of children (n = 90) with a negative family history of atherosclerosis (62 parents). The study revealed a surprising fact that 26.7% of control children had hypercholesterolaemia compared to 15.7% incidence in "risk" children. "Risk" children differed from the controls most in the apo-A-I levels and a higher risk index expressed by the proportion of apo-B:apo-A-I (1.22, 1.34 g/l, p = 0.001, 0.58, 0.46, p = 0.05, respectively). Since the most frequent primary hyperlipoproteinaemia in myocardial infarction families was familial combined hyperlipoproteinaemia, we assume that this condition may be presented in affected children by an unfavourable proportion of apolipoproteins of the lipoprotein classes.

• MeSH
• apolipoproteiny krev   MeSH
• arterioskleróza epidemiologie   genetika   MeSH
• cholesterol krev   MeSH
• dospělí MeSH
• hyperlipoproteinemie typ II epidemiologie   genetika   MeSH
• hyperlipoproteinemie typ IV epidemiologie   genetika   MeSH
• hyperlipoproteinemie epidemiologie   genetika   MeSH
• infarkt myokardu epidemiologie   genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• rizikové faktory MeSH
• triglyceridy krev   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• klinické zkoušky MeSH
• Názvy látek
• apolipoproteiny MeSH
• cholesterol MeSH
• triglyceridy MeSH

Lung cancer is the most common neoplastic disease in Eastern and Central Europe. The role of hereditary factors in lung carcinogenesis is not fully understood. Family history (FH) of lung cancer and other tobacco-related cancers might be a strong predictor of the lung cancer risk. We investigated family history of cancer among first-degree relatives of 2,861 patients with lung cancer and 3,118 controls from the Czech Republic, Hungary, Poland, Romania, Russia, Slovakia, and United Kingdom within the IARC Multicenter Case-Control Study. Odds ratios (ORs) and 95% CI were calculated using logistic regression, adjusting for age, gender, study center, education, tobacco smoking, and number of first-degree relatives. In addition, we conducted a meta-analysis of 41 studies on FH of cancer and lung cancer risk. Positive FH of lung cancer increased risk of lung cancer with OR of 1.63 (95%CI: 1.31-2.01), and having two or more affected relatives with lung cancer further increased the risk of lung cancer with OR 3.60 (95%CI: 1.56-8.31). Among subjects aged less than 50, the OR for FH of lung cancer was 2.08 (95%CI: 1.18-3.63). The associations were generally stronger for squamous cell carcinoma and large cell carcinoma subtypes. Heterogeneity in results was not found with respect to smoking status and gender. A significant association was not observed for FH of other smoking-related tumors. The results of meta-analysis were consistent with that of our study with regard to young onset, non-smokers and histology. FH of lung cancer is a predictor of an increased risk of lung cancer, especially in subjects aged less than 50.

• MeSH
• dospělí MeSH
• hodnocení rizik metody   statistika a číselné údaje   MeSH
• kouření škodlivé účinky   MeSH
• lidé středního věku MeSH
• lidé MeSH
• nádory plic epidemiologie   etiologie   genetika   MeSH
• rizikové faktory MeSH
• rodina * MeSH
• senioři MeSH
• sexuální faktory MeSH
• studie případů a kontrol MeSH
• zdraví rodiny MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• metaanalýza MeSH
• multicentrická studie MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH
• Maďarsko epidemiologie   MeSH
• Polsko epidemiologie   MeSH
• Rumunsko epidemiologie   MeSH
• Rusko epidemiologie   MeSH
• Slovenská republika epidemiologie   MeSH
• Spojené království epidemiologie   MeSH