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21.
Semen parameters and testicular pathology in men with testicular cancer and contralateral carcinoma in situ or bilateral testicular malignancies 总被引:2,自引:2,他引:2
Kliesch S; Bergmann M; Hertle L; Nieschlag E; Behre HM 《Human reproduction (Oxford, England)》1997,12(12):2830-2835
We evaluated 14 patients with bilateral testicular tumour, one-sided tumour
and contralateral carcinoma in situ (CIS) of the testis or testis tumour in
single testis with respect to their fertility. We analysed semen
parameters, serum hormones [follicle-stimulating hormone (FSH), luteinizing
hormone (LH) and testosterone], testicular sonography, testicular volumes
and testicular histology prior to further anti-cancer treatment. Ten out of
14 patients showed normal or reduced sperm concentrations, while 4/14
patients were azoospermic. Serum FSH levels showed a significant negative
correlation with sperm concentrations in patients with testicular
malignancies (r = -0.64, P = 0.025). Testicular volumes revealed a
significant positive correlation with semen parameters in patients with
testes that were affected by CIS (r = 0.733, P = 0.038). We conclude that
even bilateral testicular cancer and/or CIS do not preclude fertility and,
therefore, patients should be offered andrological investigation and
therapy, including possibly surveillance strategy or the chance for
cryopreservation of the semen prior to further treatment in order to
preserve their chances for paternity.
相似文献
22.
Peter Henneman Femke van der Sman-de Beer Payman Hanifi Moghaddam Petra Huijts Anton FH Stalenhoef John JP Kastelein Cornelia M van Duijn Louis M Havekes Rune R Frants Ko Willems van Dijk Augustinus HM Smelt 《European journal of human genetics : EJHG》2009,17(5):620-628
Type III hyperlipoproteinemia (HLP) is mainly found in homozygous apolipoprotein (APO) E2 (R158C) carriers. Genetic factors contributing to the expression of type III HLP were investigated in 113 hyper- and 52 normolipidemic E2/2 subjects, by testing for polymorphisms in APOC3, APOA5, HL (hepatic lipase) and LPL (lipoprotein lipase) genes. In addition, 188 normolipidemic Dutch control panels (NDCP) and 141 hypertriglyceridemic (HTG) patients were genotyped as well. No associations were found for four HL gene polymorphisms and two LPL gene polymorphisms and type III HLP. The frequency of the rare allele of APOC3 3238 G>C and APOA5 −1131 T>C (in linkage disequilibrium) was significantly higher in type III HLP patients when compared with normolipidemic E2/2 subjects, 15.6 vs 6.9% and 15.1 vs 5.8%, respectively, (P<0.05). Furthermore, the frequencies of the APOA5 c.56 G>C polymorphism and LPL c.27 G>A mutation were higher in type III HLP patients, though not significant. Some 58% of the type III HLP patients carried either the APOA5 −1131 T>C, c.56 G>C and/or LPL c.27 G>A mutation as compared to 27% of the normolipidemic APOE2/2 subjects (odds ratio 3.7, 95% confidence interval=1.8–7.5, P<0.0001). The HTG patients showed similar allele frequencies of the APOA5, APOC3 and LPL polymorphisms, whereas the NDCP showed similar allele frequencies as the normolipidemic APOE2/2. Patients with the APOC3 3238 G>C/APOA5 −1131 T>C polymorphism showed a more severe hyperlipidemia than patients without this polymorphism. Polymorphisms in lipolysis genes associate with the expression and severity of type III HLP in APOE2/2. 相似文献
23.
Survey of CAG/CTG repeats in human cDNAs representing new genes: candidates for inherited neurological disorders 总被引:3,自引:2,他引:3
Neri C; Albanese V; Lebre AS; Holbert S; Saada C; Bougueleret L; Meier-Ewert S; Le Gall I; Millasseau P; Bui H; Giudicelli C; Massart C; Guillou S; Gervy P; Poullier E; Rigault P; Weissenbach J; Lennon G; Chumakov I; Dausset J; Lehrach H; Cohen D; Cann HM 《Human molecular genetics》1996,5(7):1001-1009
24.
Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11 总被引:56,自引:0,他引:56
Vogt PH; Edelmann A; Kirsch S; Henegariu O; Hirschmann P; Kiesewetter F; Kohn FM; Schill WB; Farah S; Ramos C; Hartmann M; Hartschuh W; Meschede D; Behre HM; Castel A; Nieschlag E; Weidner W; Grone HJ; Jung A; Engel W; Haidl G 《Human molecular genetics》1996,5(7):933-943
In a large collaborative screening project, 370 men with idiopathic
azoospermia or severe oligozoospermia were analysed for deletions of 76 DNA
loci in Yq11. In 12 individuals, we observed de novo microdeletions
involving several DNA loci, while an additional patient had an inherited
deletion. They were mapped to three different subregions in Yq11. One
subregion coincides to the AZF region defined recently in distal Yq11. The
second and third subregion were mapped proximal to it, in proximal and
middle Yq11, respectively. The different deletions observed were not
overlapping but the extension of the deleted Y DNA in each subregion was
similar in each patient analysed. In testis tissue sections, disruption of
spermatogenesis was shown to be at the same phase when the microdeletion
occurred in the same Yq11 subregion but at a different phase when the
microdeletion occurred in a different Yq11 subregion. Therefore, we propose
the presence of not one but three spermatogenesis loci in Yq11 and that
each locus is active during a different phase of male germ cell
development. As the most severe phenotype after deletion of each locus is
azoospermia, we designated them as: AZFa, AZFb and AZFc. Their probable
phase of function in human spermatogenesis and candidate genes involved
will be discussed.
相似文献
25.
Janneke AL van Kempen Henk J Schers Anne Jacobs Sytse U Zuidema Franca Ruikes Sarah HM Robben René JF Melis Marcel GM Olde Rikkert 《The British journal of general practice》2013,63(608):e225-e231
Background
Primary care is increasingly interested in the identification of frailty, as it selects the target population for integrated care. However, instruments for the identification of frailty specifically validated for use in primary care are scarce. This study developed the Easycare Two-step Older persons Screening (Easycare-TOS), which provides a valid, efficient, and pragmatic screening procedure to identify frail older people.Aim
This paper aims to describe the development of the Easycare-TOS and the data from the pilot studies.Design and setting
Observational pilot study in seven academic GP practices in and around Nijmegen, The Netherlands.Method
The Easycare-TOS was developed in a cyclic process with the input of stakeholders. In every cycle, the requirements were first defined, then translated into a prototype that was tested in a pilot study. The Easycare-TOS makes optimal use of prior knowledge of the GP, and the professionals’ appraisal is decisive in the frailty decision, instead of a cut-off score. Further, it considers aspects of frailty, as well as aspects of the care context of the patient.Results
The pilot data have shown that after step 1, two-thirds of the patients do not need further assessment, because they are judged as not frail, based on prior knowledge of the GP. The overall prevalence of frailty in this pilot study is 24%. Most professionals who participated in the pilot studies considered the time investment acceptable and the method to be of added value.Conclusion
The Easycare-TOS instrument meets the predefined efficiency, flexibility, and acceptability requirements for use as an identification instrument for frailty in primary care. 相似文献26.
Background
Physical activity has been associated with a decreased risk for breast cancer. The biological mechanismn(s) underlying the association between physical activity and breast cancer is not clear. Most prominent hypothesis is that physical activity may protect against breast cancer through reduced lifetime exposure to endogenous hormones either direct, or indirect by preventing overweight and abdominal adiposity. In order to get more insight in the causal pathway between physical activity and breast cancer risk, we designed the Sex Hormones and Physical Exercise (SHAPE) study. Purpose of SHAPE study is to examine the effects of a 1-year moderate-to-vigorous intensity exercise programme on endogenous hormone levels associated with breast cancer among sedentary postmenopausal women and whether the amount of total body fat or abdominal fat mediates the effects. 相似文献27.
28.
29.
Phorbol ester-sensitive EL4 murine thymoma cells respond to phorbol 12-
myristate 13-acetate with activation of ERK mitogen-activated protein
kinases, synthesis of interleukin-2, and death, whereas phorbol ester-
resistant variants of this cell line do not exhibit these responses.
Additional aspects of the resistant phenotype were examined, using a
newly-established resistant cell line. Phorbol ester induced morphological
changes, ERK activation, calcium-dependent activation of the c-Jun
N-terminal kinase (JNK), interleukin-2 synthesis, and growth inhibition in
sensitive but not resistant cells. A series of protein kinase C activators
caused membrane translocation of protein kinase C's (PKCs) alpha, eta, and
theta in both cell lines. While PKC eta was expressed at higher levels in
sensitive than in resistant cells, overexpression of PKC eta did not
restore phorbol ester-induced ERK activation to resistant cells. In
sensitive cells, PKC activators had similar effects on cell viability and
ERK activation, but differed in their abilities to induce JNK activation
and interleukin-2 synthesis. PD 098059, an inhibitor of the mitogen
activated protein (MAP)/ERK kinase kinase MEK, partially inhibited ERK
activation and completely blocked phorbol ester-induced cell death in
sensitive cells. Thus MEK and/or ERK activation, but not JNK activation or
interleukin-2 synthesis, appears to be required for phorbol ester-induced
toxicity. Alterations in phorbol ester response pathways, rather than
altered expression of PKC isoforms, appear to confer phorbol ester
resistance to EL4 cells.
相似文献
30.
HM Karaka F Tokoglu M Kacar S Boyacigil 《Journal of Medical Imaging and Radiation Oncology》1997,41(2):179-180
A 54-year-old man with a unilocular hydatid cyst within the infero-posterior angle of the orbit and a 6-year-old male child with a unilocular hydatid cyst within the supero-medial angle of the orbit are presented. The retrobulbar cysts were diagnosed with computed tomography and ultrasonography and were treated after serologic confirmation. 相似文献