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1.
We report a Mexican family in which two sibs were identified as "classic" XX males without genital ambiguities. Molecular studies revealed that both patients were negative for several Y sequences, including SRY. A review of familial cases disclosed that this is the first family where a complete male phenotype was observed in Y-negative XX male non-twin brothers. These data suggest that an inherited loss-of-function mutation, in a gene participating in the sex-determining cascade, can induce normal male sexual differentiation in the absence of SRY.  相似文献   

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Methamphetamine is an amphetamine derivative and a category II controlled substance. It is uncommonly prescribed by physicians, but is more often used illegally as a stimulant. In this case study, 3 dogs were believed maliciously poisoned. Methamphetamine was detected in the stomach contents of 1 dog. One died and 2 recovered after gastrointestinal decontamination and supportive care. The recommended treatment protocol of methamphetamine toxicosis should also include urine acidification and alpha-adrenergic blocking agents.  相似文献   

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A 17-year-old XX male with constitutional delay of growth and development and genetic short stature is described. Testosterone levels were normal but luteinizing-hormone-releasing-hormone-stimulated gonadotropin concentrations were increased. Testicular biopsy showed atrophic tubuli seminiferi and hyperplasia of the Leydig cells, and the spermiogram indicated azoospermia. Molecular analysis demonstrated the SRY gene close to the centromere of the paternally derived X chromosome. Clinical data in addition to the cytogenetic and molecular aspects are discussed.  相似文献   

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The case of a 32 year old male with normal male adrenarchal hair pattern, bilateral gynaecomastia, a small phallus, hypospadias and bilateral poorly developed testes presenting with primary infertility secondary to azoospermia and a pelvic cyst is described. Repeated chromosomal analysis showed 46XX chromosomal constitution. Laparotomy revealed a simple cyst between the urinary bladder and the rectum. XX male syndrome is a rare cause of male infertility. The majority of cases is due to interchange of a fragment of the short arm of the Y chromosome containing the region that encodes the testes determining factor with the X chromosome. The presence of a simple cyst in the anatomical location of the uterus to our knowledge has not been reported in the literature.  相似文献   

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The unusual case of a Japanese newborn XX male is presented. Examination of chromosomes in amniotic fluid cells had shown a normal female karyotype (46,XX), but ultrasonography revealed a penis and a scrotum. The neonate had normal male external genitalia, and serum levels of luteinizing hormone, follicle stimulating hormone, and testosterone were all within the normal range. High resonance chromosome analysis revealed an excess portion on the short arm of one of the X chromosomes. We examined his genomic DNA by polymerase chain reaction (PCR) and detected two Y specific regions in his genomic DNA, the sex-determining region Y (SRY) and pseudoautosomal boundary Y. Nucleotide sequencing of the PCR products of SRY indicated no mutation. These findings suggested that the translocation or insertion of an SRY region on the X chromosome led to the development of testicles and a male phenotype.  相似文献   

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Comments on articles on the topic of termination by M. S. Bergmann, S. E. Chazan, S. J. Ellman, K. A. Garcia-Lawson and R. C. Lane, J. H. Golland, D. M. Kaplan, J. Novick, and W. S. Poland (see records 1997-05806-002, 1997-05806-007, 1997-05806-005, 1997-05806-008, 1997-05806-009, 1997-05806-003, 1997-05806-001, and 1997-05806-004, respectively). Termination is examined not just as the ending of a treatment where loose ends are ties up, so to say, but as a unique opportunity to work on the unconscious meaning of this ending for the patient. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   

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The objective of this paper was to determine if prenatal sonographic findings can accurately differentiate between the causes of bladder distention and pyelectasis in the male fetus. Twenty-one cases were evaluated for the presence of oligohydramnios, posterior urethral dilation, bladder wall thickening, urachal patency, cortical thinning, cortical cysts, and increased renal echogenicity. Postnatal diagnosis included posterior urethral valves (10 cases), prune belly syndrome (four cases), vesicoureteral reflux (four cases), left ureterovesical junction obstruction (one case), and nonrefluxing, nonobstructive megacystis-megaureter (two cases). Oligohydramnios was present in eight of 10 cases of posterior urethral valves and in one of four cases of prune belly syndrome. A dilated posterior urethra was noted in seven of 10 cases of posterior urethral valves and transiently in two of four cases of prune belly syndrome. Bladder wall thickening developed in all cases of posterior urethral valves and was noted in two of four patients with prune belly syndrome. A patent urachus likewise was identified in two of four cases of prune belly syndrome. The presence of oligohydramnios, progressive bladder wall thickening, and dilated posterior urethra was most suggestive of posterior urethral valves, whereas the presence of a patent urachus was most suggestive of prune belly syndrome. The presence of pyelectasis and megacystis without additional amniotic fluid, bladder, urethral, or renal abnormalities was most suggestive of vesicoureteral reflux, ureterovesical junction obstruction, or nonrefluxing, nonobstructive megacystis-megaureter. Owing to the overlap and evolution of these findings, close follow-up evaluation is recommended.  相似文献   

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In this article, a set of principles governing termination in experiential therapy are laid out. These involve viewing the client as an agent, viewing change as a process, dealing with separation and loss, empowering the client, consolidating meanings, predicting relapse, tapering of sessions, and offering the possibility of a future relationship. Case examples are given. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   

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Suggests that psychoanalysts seem to have deep-seated resistances to thinking about termination in a way that promotes clinical and scientific growth and focuses on the factors in the analyst that make termination inconceivable. Factors influencing obstacles to conceiving of termination are examined including aspects in the history of psychoanalysis, the theoretical models held by analysts, and the kind of termination experience analysts themselves have had. It is argued that major sources of analytic resistance to termination issues lie in several areas including: analysts' failure to acknowledge mismanagement of termination by the psychoanalytic pioneers, the unexamined repetition of past technical errors (e.g., forced terminations), the denial that analysts also have reactions to the loss of a patient, and the denial that strongly held psychoanalytic models will influence what emerges and what is attended to during termination. (PsycINFO Database Record (c) 2011 APA, all rights reserved)  相似文献   

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The susceptibilities of 59 Campylobacter fetus subsp. fetus isolates to eight antibiotics were studied by the agar dilution, E-test, and disk diffusion methods. None of the isolates were beta-lactamase producers. All were susceptible to ampicillin, gentamicin, imipenem, and meropenem as determined by the three methods, with MICs at which 90% of the isolates are inhibited (MIC90s) (determined by agar dilution) of 2, 1, < or = 0.06, and 0.12 microgram/ml, respectively. Twenty-seven percent of the isolates were resistant to tetracycline, with complete agreement between the agar dilution and disk diffusion results. The MIC90s determined by agar dilution were 2 micrograms/ml for erythromycin, 1 microgram/ml for ciprofloxacin, and 8 micrograms/ml for cefotaxime.  相似文献   

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The following principles of termination have been derived from the confluence of psychoanalytic and other perspectives: (a) The timing of the termination is determined by the patient; (b) the frequency of meetings should be reduced and a final appointment scheduled some time after the second-to-last meeting; (c) the patient's stressors, previous dominant ways, and new ways of responding should be reviewed; (d) what the patient believes was accomplished should be discussed, (e) the therapist should inquire what was helpful and hurtful; (j) the therapist should inquire, if appropriate, whether there is something negative about the therapy leading the patient to terminate; (g) the therapist should equalize the relationship; and (h) the patient should be invited to correspond in the future. (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   

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Previous work has established a number of sex-related deficits in immune function, behavior, and endocrine responses to stress in the offspring of dams exposed to ethanol. To examine the potential role of maternal glucocorticoids as a mediator of these sexually dimorphic effects in the fetus, we examined the influence of prenatal alcohol exposure in the presence or absence of maternal glucocorticoids on fetal plasma corticosterone (CORT) production. An additional question to be addressed by these studies was whether maternal adrenalectomy could eliminate the known inhibition by ethanol of the prenatal surge of plasma testosterone in male fetuses. Pregnant dams were adrenalectomized (ADX) or sham-adrenalectomized on gestational day (G) 7 and placed on a liquid diet containing 35% ethanol-derived calories or pair-fed an isocaloric control diet throughout the experiment. On G18, G19, and G21, plasma levels of CORT, testosterone, and dehydroepiandrosterone (DHEA) were measured in male and female fetuses and their mothers. Ethanol administration consistently increased maternal plasma CORT levels but did not significantly alter CORT levels in the fetus. Maternal ADX resulted in compensatory increases in fetal CORT levels that were lower in fetuses of ADX dams on alcohol, suggesting a direct effect of ethanol on fetal pituitary-adrenal activity. There were no significant sex differences in fetal plasma CORT levels in response to any of these manipulations. A novel surge of maternal plasma DHEA was found on G19 that was absent in plasma from ADX dams. In spite of the absence of a surge on G19, plasma DHEA levels of ADX dams rose from very low levels at G18 to levels on G21 that were significantly higher than in Sham dams. A normal testosterone surge was observed in male fetuses on G18 and G19 from sham-adrenalectomized dams administered the pair-fed diet. However, this surge was greatly attenuated in males administered ethanol and also in male fetuses from ADX dams. These results reveal a direct inhibitory influence of ethanol on fetal CORT secretion as well as on the prenatal testosterone surge in males. Furthermore, these studies demonstrate the presence of a surge of DHEA in the pregnant rat. Overall, these data suggest that there is a critical adrenal factor in the rat that regulates the maternal surge of DHEA on G19 and the prenatal testosterone surge of male fetuses on G18-19.  相似文献   

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In contrast to conventional theories, a series of provocative epidemiologic findings reported over the last decade suggest that environmental factors in early life are of substantial importance to disease risk in later years. To explain these findings, the idea of early life physiologic programming or imprinting has been advanced. Such programming has been documented in a variety of systems and reflects the action of a factor during a sensitive period or window of development to exert organizational effects that persist throughout life. Programming agents might include growth factors, hormones, and nutrients. These factors may produce adaptations that permanently alter adult metabolism and responses in a direction optimizing survival under continued conditions of malnutrition, stress, or other deprivation, but such responses might be detrimental when the later environment is unexpectedly less challenging.  相似文献   

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