Kromosoomianomaaliad ja kromosoomivariandid infertiilsetel meestel

Lastetust esineb umbes 15% peredest. Selle mehepoolsetest põhjustest moodustavad 30% geneetilised tegurid, eeskätt kromosoomihaigused. Eestis on viljatuse tsütogeneetilisi põhjusi seni vähe uuritud. Töös selgitati kromosoomianomaaliate ja kromosoomivariantide seost meeste viljatusega. Selgus, et Eestis elavatel viljatutel meestel, isegi kui nendel ei olnud geneetiliste haiguste sümptomeid, oli kromosoomianomaaliate esinemissagedus suur võrreldes fertiilsete meestega.Spermatogeneesihäiret võivad põhjustada nii sugukromosoomide arvuanomaaliad kui ka autosoomide struktuurianomaaliad. Seepärast on kõiki lastetuid mehi soovitatav rutiinselt uurida tsütogeneetiliselt, eriti enne pere kunstlikule viljastamisele suunamist. Eesti Arst 2006; 85 (2): 84–9

Varikotseele ja teiste mehe suguelundeid mõjutavate haiguste levimus ning mõju munandi mahule

Sugutraktihaigused on kõige olulisemad ravitavad mehepoolse viljatuse riskitegurid. Töö eesmärgiks oli välja selgitada kliiniliselt väljendunud sugutraktihaiguste levimus lastetutel meestel võrreldes kontrollrühmaks võetud noorte Eesti meeste vastavate näitajatega. Ühtlasi uuriti munandikoti veenilaiendi kui kõige sagedamini mehe viljakust mõjutava haiguse mõju munandi mahule. Eesti Arst 2003; 82 (2): 80–8

Ülevaade Eesti 40–49aastaste meeste terviseuuringust

Eesti Arst 2022; 101(10):586–58

Sperma mikrofloora kroonilise prostatiidi korral

Krooniline prostatiit on sage, kuid halvasti uuritud haigus, mille etioloogia on suuresti teadmata. Patsientidel leitakse prostata-spetsiifilistest materjalidest ainult ühel juhul kümnest traditsioonilisi uropatogeene (Enterobacteriaceae või Enterococcus), üheksal juhul kümnest jääb haigusetekitaja leidmata. Meie eesmärgiks oli selgitada välja seosed prostatiidi ja rutiinse diagnostika raamidest väljapoole jäävate mikroobide vahel nagu anaeroobsed bakterid, mükoplasmad ning korüünebakterid. Selleks tehti komplekssed mikrobioloogilised uuringud prostatiidipatsientidel ja kontrolluuritavatel. Tööst selgus, et prostatiidipatsientide spermas esinevad arvukad polümikroobsed kooslused, kus on oluline osakaal anaeroobsetel bakteritel ning kus mikroorganismide kontsentratsioon ning erinevate liikide arv on oluliselt suuremad kui kontrolluuritavatel. Ka mükoplasmasid leidub prostatiidipatsientide spermas oluliselt sagedamini ning teatud liigid – Ureaplasma parvum ja Mycoplasma genitalium – seostusid oluliselt haigusega. Korüneformsetest bakteritest esines prostatiidipatsientidel oluliselt sagedamini Corynebacterium’i G-grupi omi, lisaks leidus neil märksa rohkem korüneformide liike suures kontsentratsioonis. Korüneformsed bakterid on vähetundlikud prostatiidi ravis sageli kasutatavate fluorokinoloonide suhtes, kuid nad on tundlikud penitsilliinide ja TMP/SMX suhtes. Eesti Arst 2010; 89(2):83−9

Kliinilisest teadusest

Eesti Arst 2014; 93(8):42

Meeste viljakust mõjutavad haigused

Meeste viljakust mõjutavad väga erinevad haigused. Töö eesmärk oli välja selgitada suguelundeid mõjustavate haiguste levimus mehe viljakuse aspektist eri prognostilise väärtusega spermatosoidide hulgaga lastetute Eesti meeste seas. Levinumateks viljatuse riskiteguriteks osutusid varikotseele, sugutraktipõletikud (k.a leukotsütospermia) ja krüptorhism. Enamik meeste viljatuse tähtsamatest riskiteguritest on ärahoitavad või ravitavad. Eesti Arst 2003; 82 (3): 181–18

Paratestikulaarne adenomatoidne tuumor. Haigusjuhu kirjeldus

Adenomatoidne tuumor on kõige sagedasem paratestikulaarne healoomuline kasvaja, mis moodustab umbes 30% kõikidest paratestikulaarsetest beniigsetest uudis moodustistest. Haiguse etioloogia on ebaselge. Lisaks haiguse anamneesile ja objektiivsele läbivaatusele peetakse adenomatoidse tuumori ekstratestikulaarse vormi korral oluliseks ultraheliuuringut. Eesti Arst 2007; 86 (3): 213–21

Active vitamin D (1,25-dihydroxyvitamin D) and bone health in middle-aged and elderly men: the European male aging study (EMAS)

<p>Context: There is little information on the potential impact of serum 1,25-dihydroxyvitamin D [1,25(OH)2D] on bone health including turnover.</p> <p>Objective: The objective of the study was to determine the influence of 1,25(OH)2D and 25-hydroxyvitamin D [25(OH)D] on bone health in middle-aged and older European men.</p> <p>Design, Setting, and Participants: Men aged 40–79 years were recruited from population registers in 8 European centers. Subjects completed questionnaires that included questions concerning lifestyle and were invited to attend for quantitative ultrasound (QUS) of the heel, assessment of height and weight, and a fasting blood sample from which 1,25(OH)2D, 25(OH)D, and PTH were measured. 1,25(OH)2D was measured using liquid chromatography tandem mass spectrometry. Bone markers serum N-terminal propeptide of type 1 procollagen (P1NP) and crosslinks (β-cTX) were also measured. Dual-energy x-ray absorptiometry (DXA) of the hip and lumbar spine was performed in 2 centers.</p> <p>Main Outcome Measure(s): QUS of the heel, bone markers P1NP and β-cTX, and DXA of the hip and lumbar spine were measured.</p> <p>Results: A total of 2783 men, mean age 60.0 years (SD 11.0) were included in the analysis. After adjustment for age and center, 1,25(OH)2D was positively associated with 25(OH)D but not with PTH. 25(OH)D was negatively associated with PTH. After adjustment for age, center, height, weight, lifestyle factors, and season, 1,25(OH)2D was associated negatively with QUS and DXA parameters and associated positively with β-cTX. 1,25(OH)2D was not correlated with P1NP. 25(OH)D was positively associated with the QUS and DXA parameters but not related to either bone turnover marker. Subjects with both high 1,25(OH)2D (upper tertile) and low 25(OH)D (lower tertile) had the lowest QUS and DXA parameters and the highest β-cTX levels.</p> <p>Conclusions: Serum 1,25(OH)2D is associated with higher bone turnover and poorer bone health despite being positively related to 25(OH)D. A combination of high 1,25(OH)2D and low 25(OH)D is associated with the poorest bone health.</p&gt

A validation of the first genome-wide association study of calcaneus ultrasound parameters in the European Male Ageing Study

RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'. In brief you may : copy, distribute, and display the work; make derivative works; or make commercial use of the work - under the following conditions: the original author must be given credit; for any reuse or distribution, it must be made clear to others what the license terms of this work are.Abstract Background A number of single nucleotide polymorphisms (SNPs) have been associated with broadband ultrasound attenuation (BUA) and speed of sound (SOS) as measured by quantitative ultrasound (QUS) at the calcaneus in the Framingham 100K genome-wide association study (GWAS) but have not been validated in independent studies. The aim of this analysis was to determine if these SNPs are associated with QUS measurements assessed in a large independent population of European middle-aged and elderly men. The association between these SNPs and bone mineral density (BMD) measured using dual-energy X-ray absorptiometry (DXA) was also tested. Methods Men aged 40-79 years (N = 2960) were recruited from population registers in seven European centres for participation in an observational study of male ageing, the European Male Ageing Study (EMAS). QUS at the calcaneus was measured in all subjects and blood was taken for genetic analysis. Lumbar spine (LS), femoral neck (FN) and total hip (TH) BMD were measured by DXA in a subsample of 620 men in two centres. SNPs associated with BUA or SOS in the Framingham study with p < 10-4 were selected and genotyped using SEQUENOM technology. Linear regression was used to test for the association between SNPs and standardised (SD) bone outcomes under an additive genetic model adjusting for centre. The same direction of effect and p < 0.05 indicated replication. Results Thirty-four of 38 selected SNPs were successfully genotyped in 2377 men. Suggestive evidence of replication was observed for a single SNP, rs3754032, which was associated with a higher SOS (β(SD) = 0.07, p = 0.032) but not BUA (β(SD) = 0.02, p = 0.505) and is located in the 3'UTR of WDR77 (WD repeat domain 77) also known as androgen receptor cofactor p44. A single SNP, rs238358, was associated with BMD at the LS (β(SD) = -0.22, p = 0.014), FN (β(SD) = -0.31,p = 0.001) and TH (β(SD) = -0.36, p = 0.002) in a locus previously associated with LS BMD in large-scale GWAS, incorporating AKAP11 and RANKL. Conclusions We found suggestive evidence of association between a single SNP located in the 3'UTR of WDR77 with calcaneal ultrasound parameters. The majority of SNPs, associated with QUS parameters in the Framingham Study, were not replicated in an independent population sample of European men.Published versio

Chromosomal scan of single sperm cells by combining fluorescence-activated cell sorting and next-generation sequencing

PurposeThe purpose of this study was to develop a feasible approach for single sperm isolation and chromosome analysis by next-generation sequencing (NGS).MethodsSingle sperm cells were isolated from semen samples of normozoospermic male and an infertile reciprocal translocation (RcT) carrier with the 46,XY,t(7;13)(p12;q12.1) karyotype using the optimized fluorescence-activated cell sorting (FACS) technique. Genome profiling was performed using NGS.ResultsFollowing whole-genome amplification, NGS,and quality control, the final chromosome analysis was performed on 31 and 6 single cell samples derived from the RcT carrier and normozoospermic male, respectively. All sperm cells from normozoospermic male showed a normal haploid 23-chromosome profile. For the RcT carrier, the sequencing data revealed that 64.5% of sperm cells harbored different variants of chromosome aberrations, involving deletion of 7p or 7q, duplication of 7p, and duplication of 13q, which is concordant with the expected chromosome segregation patterns observed in balanced translocation carriers. In one sample, a duplication of 9q was also detected.ConclusionsWe optimized FACS protocol for simple and efficient isolation of single human sperm cells that subsequently enabled a successful genome-wide chromosome profiling and identification of segmental aneuploidies from these individual cells, following NGS analysis. This approach may be useful for analyzing semen samples of infertile men or chromosomal aberration carriers to facilitate the reproductive risk assessment.Peer reviewe