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Bertoli, J, de Souza Bezerra, E, Dias Reis, A, Amice da Costa Barros, E, Gobbo, LA, and Forte Freitas Júnior, I. Long-term side effects of breast cancer on force production parameters. J Strength Cond Res 36(5): 1450-1458, 2022-Breast cancer treatments have long-term side effects, which are associated with muscle strength reduction, negatively affecting the quality of life and increasing the chances of a sedentary life style. The aim of this study was to analyze the effects of types of surgery and hormone therapy on muscle strength parameters in breast cancer survivors compared to women without cancer (control). Eighty-three women, 42 breast cancer survivors and 41 control women, volunteered to participate in this study. Subjects performed maximal isometric voluntary contractions, so that force parameters of the right and left shoulder abductor, trunk extensor, and preferred knee extensor-flexor muscles could be evaluated. Overall, breast cancer survivors presented a lower absolute and normalized maximal force (Fmax) for all muscle groups compared with control. The right shoulder abductor muscles of breast cancer survivors presented a significantly lower absolute and normalized rapid force index (RFI) than control. When compared according to hormone therapy treatment, in breast cancer survivors undergoing aromatase inhibitor, all strength parameters except for normalized RFI demonstrated lower values for the right and left shoulder abductors, trunk, and knee extensors compared with control and tamoxifen. When separated by surgery type, breast cancer survivors who underwent quadrantectomy and radical mastectomy presented lower values for some strength parameters for the left and right shoulder abductors, except for trunk extensor muscles, in which quadrantectomy and total mastectomy presented lower strength parameters. It is recommended that breast cancer survivors should be encouraged to perform supervised strength training programs for different muscle groups to improve Fmax and RFI, aiming to reduce muscle weakness and pain, and improve functional capacity and quality of life.

Made available in DSpace on 2021-06-25T11:02:16Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-01-01. Added 1 bitstream(s) on 2021-07-15T15:05:33Z : No. of bitstreams: 1 S1516-31802021000300259.pdf: 225702 bytes, checksum: f8f600c427aa4c6afb64abb629ae2014 (MD5) BACKGROUND: Anticancer treatment gives rise to adverse effects such as increased pain and changes to body weight and menstrual cycles, with negative effects on activities of daily living. OBJECTIVE: To analyze the effect of food orientation combined with supervised (face-to-face, FF) versus home-based (HB) aerobic training on lifestyle (food consumption and daily physical activity (PA) levels), body composition, metabolic profile and cardiorespiratory fitness, among breast cancer survivors. DESIGN AND SETTING: Clinical trial study (six months) conducted at a public university in Presidente Prudente, Brazil. METHODS: Twenty-three female breast cancer survivors (40-75 years old) were allocated to aerobic training groups, either FF or HB. Both groups were trained and received food orientation. They were evaluated through a dietary record, ergometric treadmill test and blood test and the Baecke questionnaire. RESULTS: After six months, both groups had reduced their lipid levels, total energy consumption and polyunsaturated fat intake, and had increased their PA levels and treadmill test durations. However, only the HB showed reduced carbohydrate percentage and increased folic acid; and only the FF showed reduced lipid, saturated fat and sodium levels, along with increased carbohydrate and protein levels. No differences in body composition or metabolic profile were found. CONCLUSIONS: These results demonstrated the feasibility of HB aerobic training. In isolation, HB showed greater regulation of carbohydrate percentage and increased folic acid levels. Moreover, these breast cancer survivors presented improvements in food consumption, PA levels and cardiorespiratory fitness, while also maintaining their body composition and metabolic profile after the intervention, independent of the group. PhD. Physical Education Professional Postgraduate Program on Movement Sciences Universidade Estadual Paulista (UNESP) MSc. Dietitian Postgraduate Program on Physiotherapy Universidade Estadual Paulista (UNESP) MSc. Physiotherapist Postgraduate Program on Physiotherapy Universidade Estadual Paulista (UNESP) MSc. Physical Education Professional and Doctoral Student Postgraduate Program on Movement Sciences Universidade Estadual Paulista (UNESP) PhD. Physical Education Professional and Associate Professor Postgraduate Program on Movement Sciences Universidade Estadual Paulista (UNESP) PhD. Physical Education Professional and Assistant Professor Department of Physical Education Universidade Estadual Paulista (UNESP) MD PhD. Physician and Associate Professor Postgraduate Program on Adult Health and Postgraduate Program on Health Sciences Department of Medicine Universidade Federal do Maranhão (UFMA) PhD. Physical Education Professional Postgraduate Program on Movement Sciences and Postgraduate Program on Physiotherapy Universidade Estadual Paulista (UNESP) PhD. Physical Education Professional Postgraduate Program on Movement Sciences Universidade Estadual Paulista (UNESP) MSc. Dietitian Postgraduate Program on Physiotherapy Universidade Estadual Paulista (UNESP) MSc. Physiotherapist Postgraduate Program on Physiotherapy Universidade Estadual Paulista (UNESP) MSc. Physical Education Professional and Doctoral Student Postgraduate Program on Movement Sciences Universidade Estadual Paulista (UNESP) PhD. Physical Education Professional and Associate Professor Postgraduate Program on Movement Sciences Universidade Estadual Paulista (UNESP) PhD. Physical Education Professional and Assistant Professor Department of Physical Education Universidade Estadual Paulista (UNESP) PhD. Physical Education Professional Postgraduate Program on Movement Sciences and Postgraduate Program on Physiotherapy Universidade Estadual Paulista (UNESP)

Made available in DSpace on 2020-12-12T02:05:07Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-05-06 Background: It is known that the elderly population remains most of the time in light activity. Physical activity plays a key role in the primary prevention of chronic diseases to mitigate various deleterious effects of aging and improve quality of life. The objective of the present study was to evaluate whether the time that postmenopausal women remain in light activities during the day are related to better quality of life and compare these results with the quality of life of those who remain longer in moderate intensity and vigorous activity. Methods: This is a cross sectional study there were evaluated 102 women, aged 50 to 79 years, all postmenopausal. Physical activity was measured by triaxial accelerometers. The quality of life was assessed using a Brazilian validated version of the SF-36 questionnaire. The sample was divided in three groups (G1, G2 and G3) according to tercile of time spent per week on light, moderate and moderate+vigorous physical activity. The comparisons between groups were made by ANOVA One Way, and the relationship between variables were made through the Spearman's correlation coefficient, and the significance was set at 5%. Results: We found that the amount of time of light physical activity shows a higher correlation values compared to the moderate and moderate+vigorous physical activity (p < 0,05) and presented significant correlation in all domains of quality of life. Vigorous physical activity did not presented significant correlation in all domains of quality of life. Conclusion: Our data suggests that light intensity physical activity presented influence on the quality of life of postmenopausal women. Trial registration: (NCT02804308). Registered on 17 june 2016 (retrospectively registred). Center of Studies and Laboratory of Evaluation and Prescription of Motor Activities (CELAPAM) Department of Physical Education Sao Paulo State University (UNESP) FCT, Rua Roberto Simonsen, 305 Post Graduation Program in Motricity Science São Paulo State University (UNESP) School Technology and Science Post Graduation in Physiotherapy São Paulo State University (UNESP) School Technology and Science Department of Physical Education Federal University of Amazonas (UFAM) School of Physical Education University of São Paulo (USP) Center of Studies and Laboratory of Evaluation and Prescription of Motor Activities (CELAPAM) Department of Physical Education Sao Paulo State University (UNESP) FCT, Rua Roberto Simonsen, 305 Post Graduation Program in Motricity Science São Paulo State University (UNESP) School Technology and Science Post Graduation in Physiotherapy São Paulo State University (UNESP) School Technology and Science

Semen analysis of a 31-year-old infertile man showed a severe oligoteratozoospermia. Karyotyping of peripheral blood lymphocytes showed a 47,XY,+18[13]/46,XY[16] mosaicism. Cultured skin fibroblasts, right and left jugal smears showed 3, 50 and 65% trisomic cells respectively. The aim of the study was to evaluate the aneuploidy rates of chromosomes X, Y, 13, 18 and 21 and the diploidy rate in his spermatozoa by fluorescence in situ hybridization. The rate of disomy 18 was significantly increased in the spermatozoa of the patient (0.68%) compared to the control group (0.06%). A statistically significant difference in the rates of disomy for chromosome 13 (0.46% vs. 0.14%) and the gonosomes (0.78% vs. 0.24%) and diploidy (0.93% vs. 0.34%) was also found between the patient and the control group. However, no significant difference was observed for chromosome 21 (0.34% vs. 0.15%). Our results show evidence of a generalized perturbation of the meiotic mechanism that could lead to an increased risk for a mosaic trisomy 18 infertile male of producing offspring with aneuploidy that is not only on account of the father's mosaicism, but also more particularly because of severe oligoteratozoospermia.

Background: Primary anaplastic large-cell lymphoma (ALCL) occurring in women with breast implants is very rare. It is usually described as tumor cells infiltrating the periprosthetic capsule. These are most often revealed by a periprosthetic recurrent isolated effusion (seroma cavity), occurring late after implantation of the prosthesis. ALCL is more rarely a tumor or periprosthetic capsular contracture. Case: We report a 66-year-old woman, initially diagnosed by cytological examination of breast effusion, in whom ALCL appeared two and a half months after the removal of a ruptured implant. Repeated biopsies of the periprosthetic capsule performed in parallel showed fibrous tissue, without tumor proliferation. Only meticulous histological examination of the total capsulectomy identified tumor cells as a thin and discontinuous layer along the inner surface of the capsule without capsular invasion. Conclusion: Awareness of the histological pattern of this new clinical entity is important. A total capsulectomy with a good sampling for microscopic examination should be conducted for any suspicion of breast implant-associated ALCL. Cytology-histology correlation is essential.

International audience; In 2016, ovarian stimulation faces two main challenges: how to obtain good quality oocytes while not endangering the patients treated, but also limited by maternal age and poor ovarian responders (POR). The first IVF birth, Louise Brown, was obtained from a natural cycle. With the introduction, in the 1980s of gonadotropin releasing hormone agonists (GnRHa) and in the 2000s of GnRH antagonists (GnRHant), stimulation became plurifollicular (and source of consequences). Today, only about 50% of the transferred blastocysts after IVF lead to a pregnancy. The purpose of this review was to describe the current challenges and limits of ovarian stimulation.

This study investigated meiotic segregation in spermatozoa to determine if severe teratozoospermia should prevent the use of intracytoplasmic sperm injection (ICSI) because of the high production of gametes with chromosomal aneuploidies and analysed DNA fragmentation in gametes from the same semen to determine if DNA integrity was worse in patients with severe teratozoospermia. Sperm samples from 12 infertile patients were studied by fluorescence in-situ hybridization for chromosomes X, Y, 13, 18 and 21 and by TdT (terminal deoxynucleotidyl transferase)-mediated dUDP nick-end labelling. Four patients with a majority of macrocephalic forms with multiple flagella had more than 99% spermatozoa with abnormal chromosomal content. The other patients (globozoospermia or other abnormalities concerning sperm heads) had no increased aneuploidy or a slightly significant increase ( P P This study investigated meiotic segregation in spermatozoa to determine if severe teratozoospermia should prevent the use of intracytoplasmic sperm injection (ICSI) because of the high production of gametes with chromosomal aneuploidies and analysed DNA fragmentation in gametes from the same semen to determine if DNA integrity was worse in patients with severe teratozoospermia. Sperm samples from 12 infertile patients were studied by fluorescence in-situ hybridization for chromosomes X, Y, 13, 18 and 21 and by TdT (terminal deoxynucleotidyl transferase)-mediated dUDP nick-end labelling. Four patients with a majority of macrocephalic forms with multiple flagella had more than 99% spermatozoa with abnormal chromosomal content. The other patients (globozoospermia or other abnormalities concerning sperm heads) had no increased aneuploidy or a slightly significant increase ( P P

Among various causes responsible for infertility, it has been admitted for a long time that male infertility can be due to impaired spermatogenesis and/or balanced structural chromosomal abnormalities. Sperm DNA fragmentation is also considered as another cause of infertility. Most of the studies on male infertility have concerned either aneuploidy in the sperm of carriers of constitutional chromosomal abnormalities or sperm DNA fragmentation. This review is aimed at analyzing these 2 parameters in the same patients. Furthermore, we present work on the study of these 2 parameters in the same gametes of 4 carriers of a balanced chromosomal abnormality. Meiotic segregation was analyzed by fluorescent in situ hybridization and DNA fragmentation was detected by terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling assay. It was shown that aneuploidy and DNA fragmentation were increased in the sperm of carriers of a balanced chromosomal abnormality. For all 4 carriers of a balanced structural abnormality, there was a 2–5 times higher proportion of spermatozoa with unbalanced chromosomal content and fragmented DNA than among those with normal/balanced content. Moreover, we found a non-random distribution with more gametes with DNA fragmentation when these arose from a particular segregation mode. The mechanism which would tend to explain our results is abortive apoptosis. In conclusion, both meiotic segregation and DNA fragmentation studies should be integrated in the genetic exploration of male carriers of a chromosomal structural abnormality.

ObjectiveTurner's syndrome (TS) is well known, but prognosis for 45,X/46,XX mosaicism below 30% of aneuploidy has not been established. We evaluated differences in clinical features and biological parameters between patients with numerical sex chromosome mosaicism diagnosed incidentally and control women.DesignRetrospective observational study of clinical features and biological parameters.MethodsStandard endocrinological and gynecological examination was done and early-follicular-phase blood values were collected from the medical records of women aged 21–43, who were referred to our ward from 1996 to 2006 because of infertility and were karyotyped. Seventy-one women with sex chromosome mosaicism (45,X/46,XX) ranging from 4 to 28% were assigned a chromosomally normal woman (46,XX) matched according to age (n=71).ResultsIn group 45,X/46,XX, 8% or more of aneuploidy accounted for a smaller height compared to controls (P=0.01). Body mass index was increased from 6% of aneuploidy (P=0.02) and was positively correlated to the percentage of 45,X cells (P=0.0001); menarche occurred earlier from 10% of aneuploidy (P=0.01) and was inversely correlated to the percentage of 45,X cells (P=0.045). No difference was found between the groups for FSH, LH, estradiol, inhibin B, and TSH values. Spontaneous abortions were more frequent in case of mosaicism (P=0.01), and recurrence was positively correlated to the percentage of aneuploidy (P=0.008).ConclusionSex chromosome mosaicism is responsible for clinical changes from 6% of aneuploidy, corresponding to the main phenotypical features of TS.

Objective To determine the meiotic segregation and DNA fragmentation in spermatozoa of carriers of a chromosomal structural abnormality. Design Case series. Setting University hospital. Patient(s) Thirty-seven male carriers of a chromosomal structural abnormality (21 with a balanced reciprocal translocation, 7 with a robertsonian translocation, 9 with a pericentric inversion). Intervention(s) Meiotic segregation was analyzed by the human sperm–hamster oocyte fusion technique or by fluorescent in situ hybridization, and DNA fragmentation was detected by terminal deoxynucleotidyl transferase–mediated dUTP nick-end labeling assay. Main Outcome Measure(s) Relationships between abnormal sperm parameters, DNA fragmentation, and meiotic mechanisms. Result(s) The average rates of chromosomally unbalanced spermatozoa were 55.22%, 14.09%, and 18.43% for reciprocal translocation, robertsonian translocation, and pericentric inversion carriers, respectively. The rates of DNA fragmentation were significantly higher in the whole group of carriers of a chromosomal structural abnormality and in each specific group than in the control group. No correlations between sperm DNA fragmentation and parameters of spermogram, age, or percentage of unbalanced chromosomal gametes were found. Conclusion(s) The DNA fragmentation rate depends solely on the presence of a chromosomal structural abnormality, and, therefore, a chromosomal structural abnormality predicts DNA fragmentation. Both meiotic segregation and DNA fragmentation studies should be integrated in the genetic exploration of male carriers of a chromosomal structural abnormality.

Objective To determine the meiotic segregation of a pericentric inversion of chromosome 8 in three carriers. Design Analysis of sperm nuclei by fluorescence in situ hybridization (FISH). Setting University hospital. Patient(s) Three males with an inv(8). Intervention(s) Triple FISH with the 8q and 8p subtelomeres and the specific alphoid of chromosome 9 probes. Main Outcome Measure(s) Meiotic segregation differences between carriers. Result(s) The frequencies of nonrecombinant gametes were 97%, 60.94%, and 61.03%. The frequencies of recombinant sperm were 1.44%, 37.71%, and 37.70%, whereas the size of the inverted segment represented 31%, 61%, and 80% of the size of the whole chromosome 8. Conclusion(s) Many factors seem to influence the production of recombinant chromosomes: the affected chromosome and involved region, location of the breakpoints, or size of the inverted segment. Our results show that the rate of recombination varies principally according to the size of the inverted segment.

The objective of this study was to determine the aneuploidy level in spermatozoa in two men with globozoospermia. Sperm nuclei were analysed by fluorescence in-situ hybridization (FISH) in two infertile males with globozoospermia. Dual FISH for chromosomes 7 and 9, 13 and 21, and triple FISH for chromosomes X, Y, and 18 was performed. The main outcome measured was meiotic segregation differences between both globozoospermic men and controls. A statistically significant difference in disomies 13 and 21 was found between patients 1 and 2. The diploidy rate of spermatozoa of patient 1 (0.876%) was significantly increased compared with that of patient 2 (0.304%) and control men (0.293%). In conclusion there seems to be a slightly increased frequency of aneuploidy in round-headed spermatozoa. However, it is unlikely that these aneuploid spermatozoa would be used in assisted reproduction techniques.

To report our 15-year experience in managing azoospermic males at the Brest University Hospital.From 1996 to 2010, 90 azoospermic males were followed: 41 with non-obstructive azoospermia (NOA) and 49 with obstructive azoospermia (OA). Surgical methods proposed for retrieving sperm were Microsurgical Epididymal Sperm Aspiration (MESA) for men with OA and microdissection Testicular Sperm Extraction (mTESE) for those with NOA.Spermatozoa were retrieved in 56.1% of the testicular biopsies for NOA. The embryo transfer rate per cycle for injection intracytoplasmique d'un spermatozoïde (ICSI) with epididymal spermatozoa (OA) was higher to that of ICSI with ejaculated spermatozoa (93.2% vs. 86.6%, P0.05), but the rate was lower for ICSI with testicular sperm (NOA) (70.2% vs. 86.6%, P0.01). The rate of clinical pregnancy per embryo transfer was 31.4% following ICSI with epididymal spermatozoa but it was of 24.2% with testicular sperm and 23.1% with ejaculated sperm.ICSI are usually difficult in NOA because they are done with very few spermatozoa. When spermatozoa are retrieved from surgical techniques, more than 50% of the OA couples and almost 30% of the NOA couples conceived at least one child.

In the infertile male population, there is a 2-20-time higher probability of having a structural chromosomal abnormality than in general population. Generally, these men have a normal phenotype but they can have sperm abnormalities. As they can produce a variable proportion of unbalanced gametes, it is important to evaluate the percentage of unbalanced chromosomal spermatozoa to assess the risk of injecting a chromosomally unbalanced gamete during ICSI procedure. We report here the meiotic segregation analysis of chromosomes in spermatozoa of 12 men with a balanced reciprocal translocation and 4 men with a Robertsonian translocation using a fluorescent in situ hybridisation analysis. The frequencies of normal or balanced spermatozoa ranged from 34.4% to 49.1% in balanced reciprocal translocation carriers. For Robertsonian translocation, the frequencies of normal or balanced spermatozoa ranged from 78.4% to 91.2%. These analyses allow us to define the orientation of genetic counselling according to the results of meiotic segregation obtained. As a last resort, it could then be discussed of the possibility of having recourse to donor spermatozoa or adoption.

To review the management with assisted reproductive technologies (ART) of men with congenital bilateral absence of vas deferens (CBAVD), associated with cystic fibrosis or not, after surgical retrieval [epididymal aspiration (MESA) or testicular biopsy (TESE)].Multicenter retrospective study made of 2 groups: CBAVD and cystic fibrosis (CF) or CBAVD only (CF-RD). Two centers performed MESA (Brest and Nantes) and one TESE (Rennes). Sperm numeration, motility, vitality, morphology and nuclear maturity were measured in both centers performing MESA. Fertilization rate (TF) and cumulated progressive pregnancy rate by retrieved oocyte (TGC) were compared between centers following ART.Ninety patients underwent surgical retrieval between January 1996 and March 2013, 30 in the CF group and 60 in the CF-RD group. Semen parameters were comparable between groups and centers. Fifty-eight (22 in the CF group and 36 in the CF-RD group) patients received ART between April 1996 and October 2014. TF was 50% and 52% and TGC 26% and 32% in the CF group and CF-RD groups, respectively. The results did not differ between groups but TGC was higher in Rennes than in the other two centers.Both semen parameters and ART results are comparable and similar to those reported in the literature. As shown by the results obtained in Rennes, TESE seems to be more effective.

Balanced reciprocal translocations are the most common structural abnormalities; most involve two autosomes while a few involve a gonosome (X or Y chromosome) and an autosome. These rearrangements are usually associated with infertility and/or a higher risk of chromosomal imbalances among offspring. This 26 years old man was first seen because of a 3-year history of primary infertility. He had been found to have a translocation, t(X;18)(q11;p11.1), inherited from his mother when he was 9 years old. Semen analysis showed a very severe oligoasthenoteratozoospermia (OAT). A total of 447 spermatozoa were analysed using three-colour fluorescent in situ hybridization (FISH). The alternate segregation pattern, leading to a normal or balanced chromosomal content, was found in 54.36% of the spermatozoa studied. The frequencies of Adjacent I, Adjacent II, 3:1 segregation and diploidy (or 4:0 segregation) were 8.28, 5.14, 22.37 and 2.01%, respectively. Balanced reciprocal translocations between an autosome and the X chromosome lead to important disruptions in human spermatogenesis. Almost all the males with an X-autosome translocation have azoospermia. The man reported here had very severe OAT and is the first in whom the meiotic segregation pattern was analysed. This case further emphasizes the interest in performing FISH studies in infertile males with a chromosomal translocation to provide them with a personalized imbalance risk.

Balanced reciprocal and Robertsonian translocations are the most common structural chromosomal abnormalities in humans. Generally, they are without consequence for the carrier, but for various degrees of oligoasthenoteratozoospermia in men. As these carriers can produce a significant percentage of gametes with an unbalanced combination of the parental rearrangement, there is a more or less significant risk, according to cases, of chromosomal imbalances for their offspring. Therefore, techniques were developed to study the meiotic segregation of these translocations in males. Direct investigation of human sperm chromosomes became possible by karyotyping spermatozoa after penetration of zona-free hamster oocytes and, more recently, using fluorescent in situ hybridization (FISH). This paper reviews the results obtained using these techniques in Robertsonian and reciprocal translocations. The studies on spermatozoa from translocation carriers help the comprehension of the mechanisms of the meiotic segregation. They should be integrated in the genetic exploration of the infertile men, in order to give them a personalized risk assessment of unbalanced spermatozoa, specially as a correlation was found recently between the percentage of abnormal spermatozoa and that of abnormal embryos.

Study question What are the outcomes of French emergency IVF procedures involving embryo freezing for fertility preservation before gonadotoxic treatment? Summary answer Pregnancy rates after emergency IVF, cryopreservation of embryos, storage, thawing and embryo transfer (embryo transfer), in the specific context of the preservation of female fertility, seem to be similar to those reported for infertile couples undergoing ART. Study design, size, duration A French retrospective multicentre cohort study initiated by the GRECOT network-the French Study Group for Ovarian and Testicular Cryopreservation. We sent an e-mail survey to the 97 French centres performing the assisted reproduction technique in 2011, asking whether the centre performed emergency IVF and requesting information about the patients' characteristics, indications, IVF cycles and laboratory and follow-up data. The response rate was 53.6% (52/97). Participants/materials, setting, methods Fourteen French centres reported that they performed emergency IVF (56 cycles in total) before gonadotoxic treatment, between 1999 and July 2011, in 52 patients. Main results and the role of chance The patients had a mean age of 28.9 ± 4.3 years, and a median length of relationship of 3 years (1 month-15 years). Emergency IVF was indicated for haematological cancer (42%), brain tumour (23%), sarcoma (3.8%), mesothelioma (n = 1) and bowel cancer (n = 1). Gynaecological problems accounted for 17% of indications. In 7.7% of cases, emergency IVF was performed for autoimmune diseases. Among the 52 patients concerned, 28% (n = 14) had undergone previous courses of chemotherapy before beginning controlled ovarian stimulation (COS). The initiation of gonadotoxic treatment had to be delayed in 34% of the patients (n = 19). In total, 56 cycles were initiated. The mean duration of stimulation was 11.2 ± 2.5 days, with a mean peak estradiol concentration on the day on which ovulation was triggered of 1640 ± 1028 pg/ml. Three cycles were cancelled due to ovarian hyperstimulation syndrome (n = 1), poor response (n = 1) and treatment error (n = 1). A mean of 8.2 ± 4.8 oocytes were retrieved, with 6.1 ± 4.2 mature oocytes and 4.4 ± 3.3 pronuclear-stage embryos per cycle. The mean number of embryos frozen per cycle was 4.2 ± 3.1. During follow-up, three patients died from the consequences of their disease. For the 49 surviving patients, 22.5% of the couples concerned (n = 11) requested embryo replacement. A total of 33 embryos were thawed with a post-thawing survival rate of 76%. Embryo replacement was finally performed for 10 couples with a total of 25 embryos transferred, leading to one biochemical pregnancy, one miscarriage and three live births. Clinical pregnancy rate and live birth per couple who wanted a pregnancy after cancer were, respectively, 36% (95% CI = 10.9-69.2%) and 27% (95% CI = 6.0-61%). Limitations, reasons for caution The overall response rate for clinics was 53.6%. Therefore, it is not only that patients may not have been included, but also that those that were included were biased towards the University sector with a response rate of 83% (25/30) for a small number of patients. Wider implications of the findings According to literature, malignant disease is a risk factor for a poor response to COS. However, patients having emergency IVF before gonadotoxic treatment have a reasonable chance of pregnancy after embryo replacement. Embryo freezing is a valuable approach that should be included among the strategies used to preserve fertility. Study funding/competing interest(s) No external funding was sought for this study. None of the authors has any conflict of interest to declare.

Summary It has been previously shown that men with chromosomal structural abnormality had a higher rate of sperm DNA fragmentation. We studied 11 male carriers of a chromosomal structural abnormality (seven with a balanced reciprocal translocation, three with a Robertsonian translocation, one with a pericentric inversion) to determine whether spermatozoa with unbalanced chromosomes were more likely to have fragmented DNA. A sequential method combining analysis of DNA fragmentation using the TUNEL assay followed by analysis of meiotic segregation by fluorescent in situ hybridization was performed on the same spermatozoa. A statistically significant higher number of spermatozoa with unbalanced chromosomal content were found to have fragmented DNA for each man. The rate of spermatozoa with DNA fragmentation was higher than the rate of those without fragmented DNA in particular modes of segregation. Our findings provide a better understanding of the mechanisms involved in male infertility ascribable to chromosomal structural abnormality.

From a research sample of 138 corpses, divided into four subgroups of ambient storage temperature (0-5 degrees C, 6-10 degrees C, 11-15 degrees C and 16-23 degrees C) four linear regression formulae of actual versus estimated post-mortem interval were obtained ('interval' formulae) using a single outer ear temperature measurement on both sides. This method showed the best correlation coefficient among five other methods previously proposed for time of death determination (rectal temperature, vitreous K+, CSF K+, blood log NA+/K+ and log Cl-), however its results were less accurate than those obtained with a multivariate equation combining several of the above mentioned methods. Eventually an equation expressing time of death (TOD) as a function of outer ear temperature (OE T degrees) and ambient temperature was also established from the whole research sample ('global' formulae). On a different sample of 141 corpses the regression formulae ('interval' and 'global') for the outer ear temperature were compared to three methods based on a single rectal temperature measurement ('rule of thumb' 1 and 2, Henssge nomogram) and therefore useful at the scene; the results of all methods were compared within the four subgroups of ambient temperature as well as in three subgroups of different post-mortem interval lengths (7 h,10 h,15 h). In all cases the outer ear temperature formulae provided better results than the rectal temperature methods (especially Henssge nomogram and rule of thumb 1). Moreover they did not show any post-mortem plateau which was present in almost 30% of cases when rectal temperature was measured in corpses kept at ambient temperature above 15 degrees C. Our results show that outer ear temperature measurement is the method which provides the best simplicity/quality ratio and should therefore be proposed for use at the scene when conditions are similar to those of our experiment (within buildings). A software equipped thermometer is required in order to use in each case the appropriate formula and confidence interval.

Infertility is estimated to affect up to 15% of couples of reproductive age. Among the male factors, globozoospermia (also called round-headed sperm syndrome) is a rare type of teratozoospermia accounting for

Objective Several studies have shown an increased frequency of chromosomal aberrations in female partners of couples examined prior to intracytoplasmic sperm injection (ICSI). A retrospective cohort study was performed to determine whether 45,X/46,XX mosaicism affects the outcomes of in vitro fertilization (IVF) or ICSI. Study design Forty-six women with a 45,X/46,XX karyotype with 6–28% of aneuploidy were compared with 59 control women (46,XX), matched for age, from the female population who underwent IVF or ICSI between 1 January 1996 and 31 December 2006 at the Reproductive Medicine Unit at Brest University Hospital. The outcomes of 254 treatment cycles were compared according to patient karyotype. Results No difference was found in the number of retrieved oocytes (8.9 ± 5.5 vs 8.5 ± 4.7; p = 0.56) or the number of mature oocytes (7.4 ± 4.7 vs 6.9 ± 4.2; p = 0.49) between the 45,X/46,XX group and the 46,XX group, respectively. Fertilization rates did not differ between the groups for either IVF or ICSI. In addition, no difference was found in the pregnancy rate by cycle (17.4% vs 18.7%, respectively; p = 0.87). The percentage of first-trimester miscarriages was similar in both groups (13.6% vs 12.5%, respectively; p = 0.51). Conclusion 45,X/46,XX mosaicism with 6–28% of aneuploidy has no adverse effect on the outcomes of IVF or ICSI among women referred to assisted reproductive technologies.

Objective To determine the meiotic segregation in large-headed, multiple-tailed spermatozoa. Design Analysis of sperm nuclei by fluorescence in situ hybridization (FISH). Setting University hospital. Patient(s) A 34-year-old man with 100% morphologically abnormal spermatozoa. Intervention(s) Dual-color FISH for chromosomes 13 and 21 and triple-color FISH for chromosomes X, Y, and 18 were performed. Main Outcome Measure(s) Aneuploidy rates. Result(s) More than 99% of the spermatozoa had abnormal content for chromosomes X, Y, 13, 18, and 21. Diploidy, triploidy, and tetraploidy rates were found to be 18.42%, 6.14%, and 33.99% in triple-color FISH and to be 16.09%, 16.28%, and 38.95% in dual-color FISH. Conclusion(s) Our results and those from other investigators show that large-headed, multiple-tailed spermatozoa are associated with a high rate of polyploidy and aneuploidy. Intracytoplasmic sperm injection should not be recommended to those patients, not only because of its low success rate but also because of its high genetic risk.

Pericentric inversions are structural chromosomal abnormalities resulting from two breaks, one on either side of the centromere, within the same chromosome, followed by 180 degrees rotation and reunion of the inverted segment. They can perturb spermatogenesis and lead to the production of unbalanced gametes through the formation of an inversion loop.We report here the analysis of the meiotic segregation in spermatozoa from six pericentric inversion carriers by multicolour fluorescence in-situ hybridization (FISH) and review the literature.The frequencies of the non-recombinant products (inversion or normal chromosomes) were 80% for the inv(20), 91.41% for the inv(12), 99.43% for the inv(2), 68.12% for the inv(1), 97% for the inv(8)(p12q21) and 60.94% for the inv(8)(p12q24.1). The meiotic segregation of 20 pericentric inversions (including ours) is now available. The frequency of unbalanced spermatozoa varies from 0 to 37.85%. The probability of a crossover within the inverted segment is affected by the chromosome and region involved, the length of the inverted segment and the location of the breakpoints.No recombinant chromosomes were produced when the inverted segment involved30% of the chromosome length (independent of the size of the inverted segment). Between 30 and 50%, few recombinant chromosomes were produced, inducing a slightly increased risk of aneusomy of recombination in the offspring. The risk of aneusomy became very important when the inverted segment was50% of the chromosome length. Studies on spermatozoa from inversion carriers help in the comprehension of the mechanisms of meiotic segregation. They should be integrated in the genetic exploration of the infertile men to give them a personalized risk assessment of unbalanced spermatozoa.

Objective To determine whether there is an increased incidence of autosomal aneuploidies in spermatozoa from a subject with nonmosaic Klinefelter's syndrome. Design Analysis of sperm nuclei by fluorescence in situ hybridization. Setting Hospital-based laboratory for reproductive biology. Patient(s) A patient with Klinefelter's syndrome and a 46,XY fertile man were analyzed. Intervention(s) The sperm samples were prepared for fluorescence in situ hybridization. Main outcome measure(s) The disomy frequencies for chromosomes 7, 9, 13, 18, and 21 and sex chromosomes were determined using fluorescence in situ hybridization. Result(s) Significant differences were found in the frequency of disomy for chromosomes 13, 18, and 21 between the patient and a normospermic control. No significant differences were observed for chromosomes 7 and 9. The frequencies of gonosomal abnormalities and diploid spermatozoa were also significantly increased in the patient. Conclusion(s) Our results indicate that there is an increased incidence of autosomal aneuploidies for chromosomes 13, 18, and 21 in the spermatozoa from the patient with Klinefelter's syndrome than in the general population. Furthermore, most of the studies have also shown an increased frequency of autosomal aneuploidy in the spermatozoa from 46,XY males with oligozoospermia or oligoasthenoteratozoospermia. Thus, the offspring of the patients with Klinefelter's born by intracytoplasmic sperm injection may be at higher risk of autosomal aneuploidy due to oligoasthenoteratozoospermia.

H-Y antigen was studied in human peripheral blood lymphocytes from male and female subjects by indirect immunofluorescence. In males, 20% of lymphocytes were found to be H-Y+, compared with 9% in females. B- and T-cell-enrichment analysis showed a close correlation between the male B-lymphocyte count and the H-Y+-cell count. The method described is particularly applicable to the measurement of H-Y antigen in cases of ambiguous sex differentiation since it offers direct demonstration of H-Y antigen in the cells of the individual under examination.

The sex-differentiation H-Y antigen was studied in 5 males subjects with Y-chromosome polysomy. All had gonadal deficiency and significant decrease of H-Y antigen as compared with 77 normal 46, XY male controls. Men with additional Y-gonosomes may be hypogonadic or, more often, fertile, as was probably the case with the 3 patients with very high H-Y antigen titers previously described by other research workers. The phenotypic polymorphism of these subjects therefore seems to be parallel with their H-Y antigen polymorphism and there may be, in our 5 subjects, a relationship between abnormal spermatogenesis and H-Y antigen deficiency.

H-Y antigen was found to be increased in lymphocytes from 10 female 21-hydroxylase deficiencies, suggesting a correlation between the degree of virilization of these patients and their H-Y + lymphocytes proportions. Furthermore, these findings demonstrate the ability of a 46,XX female subject to produce, in some circumstances, an excess of H-Y antigen.

Six cases of Swyer's syndrome (46,XY pure gonadal dysgenesis) are reported. Three patients, without gonadal tumor, had female H-Y antigen. Three patients, after gonadal tumor ablation, had intermediate H-Y antigen levels. Repeated blood samples were obtained from two siblings. H-Y antigen level in the first sibling, who presented with a gonadoblastoma and underwent a gonadectomy before the H-Y assays, was intermediate, and did not show any significant variation for 21 months. H-Y antigen level in the second sibling showed an increase in the male range, presumably due to the presence of gonadoblastomas. After resection of the tumors, H-Y antigen level became intermediate. These findings suggest a relation between the tumorization potentiality of the gonadal remnants and the H-Y antigen levels in 46,XY pure gonadal dysgenesis.

To investigate a possible relationship between lymphocyte H-Y antigen expression and plasma androgen concentrations in hirsute women, 27 hirsute women were studied. A significant increase in the percentage of H-Y-positive lymphocytes was found in both hirsute women with idiopathic hirsutism [13.4 +/- 2.9% (+/- SD); n = 15] and hirsute women with the polycystic ovary syndrome (13.0 +/- 2.8%; n = 12) compared to that in normal women (10.0 +/- 1.9%; n = 30; P less than 0.0005). Plasma testosterone and androstenedione concentrations, % H-Y+ lymphocytes, and hirsutism scores diminished during oral cyproterone acetate (50 mg/day) and percutaneous estradiol (3 mg/day) treatment. Significant correlations between % H-Y+ lymphocytes and hirsutism scores (P less than 0.001), % H-Y+ lymphocytes and plasma T concentrations (P less than 0.01) were found. We conclude that 1) women can produce H-Y antigen in the same way as men; 2) hirsutism is associated with an increase in H-Y antigen; and 3) the antiandrogen cyproterone acetate reduces H-Y antigen expression on lymphocytes.

The serologically detected, male predominant s HY Ag is a surface glycoprotein. The structural gene would be located on the 6th chromosome and regulated by gonosomal genes. The presence of testes (or testicular remenants) is linked to the s HY antigen expression in most abnormalities of sexual differentiation. However, the basal s HY Ag value is sometimes increased in the absence of any testicular tissue, as in virilized females (21-hydroxylase deficiency, idiopathic or ovarian hirsutism). Homogametic sex s HY Ag may increase to heterogametic sex values under the action of androgens in mammals and that of oestrogens in birds.

A new serologic test for detecting the H-Y antigen by indirect fluorescence performed on purified lymphocytes was developed. It allowed us to demonstrate H-Y antigen in an 46, XX male. The presence of this antigen explains why the primitive gonad underwent testicular differentiation. Several mechanisms could account for the presence of H-Y antigen. Mosaicism or translocation of an X on a Y or an autosome may prevent detection of a Y chromosome. Alternatively, a Y chromosome may have disappeared during embryogenesis, The last hypothesis suggests that an autosome may carry a structural gene coding for H-Y antigen; in this case thye Y chromosome would act only as an accessory regulating gene.

The present knowledge of the physiology of H-Y antigen has been reviewed. It would appear that the results that have been obtained contradict one another and this brings into doubt the role that this antigen plays in testicular differentiation and the link it has with the Y chromosome.

The authors report on a case where complete blockade of 21-hydroxylase was discovered in a 40-year-old subject. They emphasize the usefulness of urinary 17-ketosteroid and 17-OH progesterone assays in the diagnosis of pseudo-hermaphroditism. In contrast to major hyperandrogenism, the HY antigen test is negative, since the percentage of fluorescent lymphocytes is even lower than in the normal female population.

The use of strontium 90 has proved to be efficient and practical, because handy, and permitting short treatment, not only, to cure benign superficial tumors and, as reported in this study, of pre-cancerous lesions such as actinic keratosis, Bowen's disease of the skin but also some carefully chosen cases of superficial carcinomas. Hundred lesions have been so treated and followed for 3 years; two only have relapsed. The cosmetic result has been excellent in 80 p. 100.

The 46, XY, 45, X mosaicism is a complement found only once among 39,557 males at birth [18]. The spectrum of phenotypes associated with this mosaicism is continuous ranging from female phenotype with or without Turner syndrome, to mixed gonadal dysgenesis, hermaphroditism, or occasionally almost normal males [24]. In such mosaicism the Y chromosome is usually rearranged: mainly i(Y) and dic(Y) but also del (Y) and r(Y). In a few cases the cell line with 46 chromosomes contains a minute marker which was assumed to be a Y-fragment (Y-f) or a del (Yq) because of the presence of testicular tissue in subjects with sexual ambiguity [20]. We now report the case of a normal but sterile man with a 45, X/46, X, Y-f caryotype who is HY antigen-negative.