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The ring chromosome is a circular, structural abnormality composed of either multiple chromosomes or a single chromosome with loss of genetic material at one or both ends. This chromosomal rearrangement is often unstable with frequent recombinations and may be accompanied by either loss or amplification of genetic material[1]. Considering that ring chromosomes are rare in acute myelogenous leukemia (AML), it is difficult to risk stratify patient prognosis, particularly when the ring chromosome occurs as the sole abnormality. Here we report a case of a ring chromosome 18 abnormality in a patient with newly diagnosed AML with monocytic differentiation. Cytogenetic analysis demonstrated 46, XY, r(18)(p11q21) karyotype in 19 of 34 evaluated metaphase cells. The patient received induction chemotherapy and subsequent allogeneic cord blood transplant from a sex-matched donor, and remained in hematologic and cytogenetic remission for 120 days post transplant. Soon after, he developed post transplant lymphoproliferative disorder and died of multi-organ failure. Although r(18) chromosomal abnormalities were not classified in the recent updated evidence-and expert opinion-based recommendations for the diagnosis and management of AML (likely due to the small number of reported cases), the patient was treated as high risk with stem cell transplantation. This was based on the unstable nature of the ring chromosome and the poor outcomes described in the literature of patients with sole ring 18 abnormalities.  相似文献   

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The incidence of multiple primary neoplasms has been increasing over the years. Within this group, the coexistence of primary prostate cancer and primary colorectal cancer is one of the most frequent. The objective of this case report is to present the case of a 76-year-old male patient who presented the diagnosis of prostate cancer and synchronous rectal cancer. To this end, his clinical history in the oncological service of the Hospital Militar Central del Perú (tertiary hospital) has been reviewed.  相似文献   

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Differentiation of the mammalian gonad is thought to be constitutive, occurring independently of and not significantly altered by gonadal hormones. In this study, estradiol benzoate (EB) and testosterone propionate (TP) were administered to newborn gray opossums (Monodelphis domestica) during the first week after birth. It was found that males and females treated with TP and females treated with EB developed normally. In males treated with EB on both Day 1 and Day 3 of postnatal life, gonads did not differentiate and internal and external genitalia were feminine. These findings are discussed with respect to current theories of mammalian sexual differentiation.  相似文献   

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Ko JC  Evans LE  Haynes JS 《Theriogenology》1990,34(1):181-187
This case report describes a female calf with arthogryposis, an extra set of incision teeth, ventral abdominal hernia, tibial hemimelia and the nonunion of mullerian ducts. This is possibly the first occurrence of these anomalies in one animal. The cause of these anomalies may have been genetic in origin due to the close relationship between the dam and the sire and the negative history for such various tetragenic factors.  相似文献   

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Background

Although oncologic testicular sperm extraction (onco-TESE) has been increasingly practiced, the evidence of onco-TESE performed in patients with testicular cancer is insufficient. Furthermore, in bilateral testicular cancer, accounting for 0.5%–1% of testicular cancers, onco-TESE is more challenging and has been insufficiently reported.

Case presentation

Here we report the case of a 25-year-old man who underwent onco-TESE from his residual single testis with a nonseminomatous germ cell tumor that occurred 5 years after orchiectomy of the contralateral testis. A second orchiectomy and simultaneous TESE from the noncancerous testicular tissue were performed. The pathological diagnosis was germ cell tumors, tumors of more than one histological type (embryonal carcinoma, immature teratoma, yolk sac tumor, seminoma, and choriocarcinoma; pT1N0M0). The patient subsequently married and hoped for fatherhood 3 years later. Whereas histological diagnosis of the normal testicular tissue was Johnsen score 6 (maturation arrest), morphologically normal and motile sperms were successfully retrieved from thawed TESE samples and used for multiple cycles of intracytoplasmic sperm injection. Although the conception has not been succeeded to date, ICSI attempts have been continuing.

Conclusion

This case demonstrates the effectiveness of onco-TESE for challenging cases such as bilateral and nonseminmatous testicular cancer.
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Male and female strategies were compared for wild–living populations of coypu (Myocastor coypus Molina) censused during two years in marshlands of central–west France. In a habitat composed of a canal network bisecting pasture fields typically 0–5 ha in size, coypu movements were largely restricted to stretches of open water, though males explored further from water than females. Adults occupied home ranges with a mean size of 3–82 ha or 1. 19 km of canal, males on average moving faster over a larger area and using a greater length of canal than females. Movements within partially shared ranges were most positively coordinated between male–female pairs, while male–male interactions were less frequent. Juvenile coypus were largely absent from the late winter population. Synchronization of litters in March–April resulted in a peak of juveniles in early summer. The sex ratio of juveniles and sub–adults reversed from a male bias in summer to a female bias in autumn. Population densities peaked in November at 4 ha, with a significant female bias (1M: 1–6F). In the same month, a neighbouring population at lower density (1 ha-l after treatment with rodenticide) was significantly male biased (2–7M:lF) and may therefore have been acting as a sink for males dispersing from the high density population. Transients comprised 63% of the population. Females were resident longer than males, 22% of females remaining at least 5 months against 6% of males. Dispersal was recorded only for males aged 6 months or older. The general result, of exploratory behaviour amongst males contrasting with the establishment of longer term home ranges by females, is discussed in terms of male reproductive success and the capacity for females to influence nutrient supply to their litters.  相似文献   

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In the songbird brain, dehydroepiandrosterone (DHEA) is metabolized to the active and aromatizable androgen androstenedione (AE) by 3β-hydroxysteroid dehydrogenase/Δ5-Δ4 isomerase (3β-HSD). Thus, brain 3β-HSD plays a key role in regulating the steroidal milieu of the nervous system. Previous studies have shown that stress rapidly regulates brain 3β-HSD activity in a sex-specific manner. To elucidate endocrine regulation of brain 3β-HSD, we asked whether 17β-estradiol (E2) regulates DHEA metabolism in adult zebra finch ( Taeniopygia guttata ) and whether there are sex-specific effects. Brain tissue was homogenized and centrifuged to obtain supernatant lacking whole cells and cell nuclei. Supernatant was incubated with [3H]DHEA and radioinert E2 in vitro . Within only 10 min, E2 significantly reduced 3β-HSD activity in both male and female brain. Interestingly, the rapid effects of E2 were more pronounced in females than males. These are the first data to show a rapid effect of estrogens on the songbird brain and suggest that rapid estrogen effects differ between male and female brains.  相似文献   

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The availability of CGS 16949A, CGS 20267 and CGP 47645, a series of aromatase inhibitors (AIs) having high specific activity and specificity, made possible this study wherein the need for estrogen (E) for regulating (a) follicular maturation/ovulation, luteal function and pregnancy establishment, and (b) testicular function of the bonnet monkey (Macaca radiata) has been examined. Generally these compounds, used in the range of 500 μg to 2.5 mg/day did not inhibit follicular maturation although they did reduce E levels. Although low doses had no effect on ovulation it appears that relatively high doses of CGS 20267 and CGP 47645 could be inhibiting it. Three oral doses of letrozole (CGS 20267, each dose of 2 mg) during the follicular phase resulted in the formation of multiple follicles in cycling females, and these could be ovulated by exogenous hCG (1000 IU) treatment. Although administration of AI during the early luteal phase had no effect on progesterone (P) production, it prevented pregnancy establishment. Whereas AI administration in the female had no significant effect on luteinizing hormone (LH) and follicle stimulating hormone (FSH) levels (except at high drug dosages), it significantly increased serum testosterone (T) levels in the male. Sustained high levels of T (30–50 ng/ml) could be maintained for 100 days by administering 2.5 mg of CGP 47465 orally once in 5 days. Blockade of E synthesis in the male led to the disruption of testicular germ cell transformation, which in turn resulted in a significant reduction in sperm production. These studies with aromatase inhibitors in the monkey suggest that these compounds have a potential for use as fertility regulating agents in both the male and female primate.  相似文献   

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We examined the positive and negative feedback effects of estradiol (E2) on luteinizing hormone (LH) and prolactin (Prl) secretion in adult male and female rats which were gonadectomized within 24 h after birth (long-term castrates) and compared these responses to those elicited by E2 in short-term castrated (7 days) adult males and females. The high serum E2 did not reduce the elevated serum LH concentrations in long-term castrates until 4 days of treatment. Also, only after negative feedback was established were the positive feedback actions of E2 observed. In contrast, Prl surges were observed after 2 days of E2, and baseline Prl serum levels were elevated by Day 3 of E2 in long-term castrated male and female rats. Some long-term castrates lacked both LH and Prl surges, and E2 was ineffective in altering basal gonadotropin secretion in these animals. Short-term castrated males had elevated serum Prl levels but no Prl surges. Seemingly, when the hypothalamus is deprived of estrogen or androgen from birth to adulthood, an equal percentage of males and females become refractory to the positive feedback effects of estrogen during adulthood. Thus, it is difficult to separate castration effects from those which may be produced by the endogenous androgen secreted during the first 26 h of life.  相似文献   

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Background

Male breast cancer is a rare event, accounting for approximately 1% of all breast carcinomas. Although men with breast cancer had poorer survival when compared with women, data on prognosis principally derive from retrospective studies and from extrapolation of female breast cancer series. We reported the case of a very long survival patient.

Case presentation

A caucasian 42-year-old man underwent radical mastectomy with axillary dissection for breast cancer in 1993. Pathologic stage was pT4pN0M0 infiltrating ductal carcinoma of right breast without lymph nodes metastases. Biological characterization was not available. He received adjuvant treatment with chemotherapy, six cycles of cyclophosphamide, methotrexate and fluorouracil, then endocrine therapy with tamoxifen for 5 years and complementary radiotherapy. Then he began clinical-instrumental follow up. In May 1996, a computed tomography scan showed multiple lung metastases. Hereafter he received several oncologic treatment including seven chemotherapy and five endocrine therapy lines with two re-challenge of endocrine therapy. In October 2007 further lung progression was showed and a biopsy was performed to characterize the disease. Histological examination confirmed breast cancer metastases, immunohistochemistry showed positive staining for estrogen receptor, negative for progesterone receptor and human epithelial growth factor receptor 2, proliferative index was 21%. In April 2013, bone disease progression was evident and he received radiant treatment to sacral spine. In May 2014 an off-label treatment with exemestane and everolimus combination was approved by Ethics Committee of the Marche Region. The patient received treatment for 3 months with evident clinical benefit to subcutaneous lesions of the chest wall that were not visible nor palpable on physical examination after 1 month of treatment.

Conclusion

That is the case of long survival male breast cancer patient with luminal B subtype and no BRCA mutations. He achieved higher progression free survival with endocrine therapy creating the rationale for last line treatment with everolimus and exemestane combination. Attending conclusive results from ongoing studies, everolimus and exemestane should not be used routinely in male metastatic breast cancer patients, but taking into account for selected cases. At the best of our knowledge, this is the first case of male beast cancer treated with exemestane and everolimus combination.
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Estradiol benzoate (EB) treatment of male and female C57BL/6J ob/ob mice for 32 days led to decreased body weight (20%), percentage body fat (8%) and carcass protein content (12%) when compared with non-EB-treated obese control mice. Estradiol reduced the caloric intakes of both genders by 25-35%, but did not affect body temperature regulation. Circulating glucose and insulin concentrations were also lowered by estrogens, although hyperinsulinemia persisted. Since post-treatment body weight changes correlated with daily food intakes (r = 0.81) rather than to rectal temperatures (r = -0.19), it appears that hypophagia provided a greater contribution to the estrogen-mediated reductions of growth and carcass fat than did altered energy expenditure for thermoregulation. While these data show that EB treatment does reduce the severity of some metabolic disturbances in a genetic model of type II diabetes, long-term estrogens do not appear to offer substantial advantages in the treatment of obesity or diabetes when compared with the effects of caloric restriction alone.  相似文献   

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Valproic acid (VPA) is available as an antiepileptic therapy and has been used to treat bipolar disorder and migraine headaches. Reports to poison centers of VPA exposures have increased over the last few years, and there have been concerns about delayed toxicity after an overdose of VPA. We report a case of a woman with acute overdose of VPA who developed many of the complications commonly associated with the medication and review the current options available for treatment. There are many clinical manifestations of VPA overdose that are characteristic for the drug.  相似文献   

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