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21.
Rainer Pankau Carl-Joachim Partsch Johannes Funda Wolfgang Günther Sippell 《American journal of medical genetics. Part A》1992,43(3):513-516
We report on the hypothalamic-pituitary-gonadal function in 2 male infants with the Smith-Lemli-Opitz (SLO or RSH) syndrome. Both infants had abnormal external genitalia. Basal and LHRH stimulated plasma gonadotropins were normal for age (1 month). Plasma testosterone, androstenedione, and dehydroepiandrosterone sulfate were normal for age and sex. Some forms of congenital adrenal hyperplasia (17,20-desmolase deficiency, 17α-hydroxylase deficiency, and 3β-hydroxysteroid dehydrogenase deficiency) were ruled out by hormonal studies. The endocrinological findings indicate a normal hypothalamic-pituitary-gonadal function and a normal adrenal steroid biosynthesis in these 2 patients. A partial androgen receptor defect causing the genital malformations seems possible in one patient. Whether 5α-reductase deficiency is the cause of the male pseudohermaphroditism in SLO syndrome remains the subject of future studies. © 1992 Wiley-Liss, Inc. 相似文献
22.
New Insights into the Pathogenesis and the Therapy of Recurrent Focal Glomerulosclerosis 总被引:4,自引:0,他引:4
Recurrent focal glomerulosclerosis (FSGS) in renal allografts has remained a frustrating and enigmatic disease. Recent studies on gene mutations encoding podocin and other components of the slit-diaphragm in patients with native kidney nephrotic syndrome have underscored the heterogenecity of the idiopathic form of FSGS. While familial FSGS rarely recurs following transplantation, the sporadic variety of FSGS is associated with a 30% recurrence rate. The patients with the sporadic variety of FSGS who have homozygous or complex heterozygous podocin mutations have a low recurrence rate. In the other patients with sporadic FSGS, a more complex and likely multifactorial etiology accounts for the recurrence of FSGS. The role of CD80 expression on podocytes is intriguing but requires confirmation in kidney biopsies of patients with recurrent FSGS. Recent findings on podocin genomics, the permeability factor and CD80 expression may ultimately lead to a better understanding of recurrent FSGS as well as a more effective approach to its prevention and treatment. 相似文献
23.
LN Weinberger MJ Zirwas JC English III 《Journal of the European Academy of Dermatology and Venereology》2007,21(2):156-162
Male genital oedema can be defined as swelling or the appearance of swelling of the scrotum and/or the penile shaft and prepuce. Despite the various causes of genital oedema reported in the published work, a concise approach to the evaluation and management has not been sufficiently addressed. 相似文献
24.
A 49-year-old man presented with episodic hypothermia many years after sustaining a contusional brain injury. Brain magnetic resonance imaging demonstrated the destruction of the anterior parts of the corpus callosum without hypothalamic lesions. Nevertheless, delayed hypothalamic dysfunction at the neurotransmitter level is the probable pathophysiological key factor. Clomipramine treatment was beneficial. This case expands the spectrum of Shapiro's syndrome. 相似文献
25.
K. L. Chan 《Hernia》2007,11(1):37-40
Background Open repair of recurrent paediatric inguinal hernias (IH) is difficult and there is definite risk of damaging the vas deferens
and testicular vessels during dissection of the previous open herniotomy field. Laparoscopic repair (LR) has the benefit of
avoiding the previous operative site.
Method Records of patients with recurrent IH that had LR after open repair were reviewed and evaluated retrospectively. The results
were compared with data from cases in which the LR method was used in the initial IH repair.
Results From September 2002 to October 2005, four boys and one girl (mean age 58.8 months) were treated in our institution for recurrent
IH after open repair. Operative time, success rate and complications did not show any statistically significant difference
when compared with our previous prospectively collected data for primary repairs.
Conclusion Laparoscopic repair is the preferred operation for recurrent childhood IH after open repair. 相似文献
26.
为了探索单疱病毒性角膜炎的发病机制和快速诊断HSK。方法应用多聚酶链反应对感染的HSK的20只纯新西兰白兔和60例HSK患者的角膜进行了单疱病毒-1-DNA检测。结果急性感染期的5只兔角膜和12只人角膜均阳性;用稳定期45d的兔角供体行部分穿透性角膜移植术,术后50d10只兔角膜中7只阳性,稳定期6个月-6年的18只人角膜片,12只阳性;30例临床可疑HSK角膜刮取物,26例阳性;5只未感染HSK 相似文献
27.
Abstract Periodontal diseases may be the first clinical sign of human immunodeficiency virus (HIV)-infection. Since the immunosuppression and subsequent susceptibility may alter the responses of the oral tissues as well as the microflora, both periodontal treatment and result of therapy may be modified. The periodontal diseases in HIV-seropositive patients include common as well as less conventional forms of gingivitis and periodontitis, and bacteria, mycotic and viral infections are seen. Neoplasias may also involve the periodontium; most common are Kaposi's sarcoma and non-Hodgkin's lymphoma. Recent studies of unselected groups of patients indicate that periodontal health in at least some groups of HIV-seropositive patients is better than previously reported. 相似文献
28.
Wolfgang H Oertel Tobias W?chter Niall P Quinn Gudrun Ulm Dirk Brandst?dter 《Movement disorders》2003,18(4):430-432
According to the consensus statement on the diagnosis of multiple system atrophy (MSA), erectile dysfunction is required for male patients to fulfil the urinary incontinence criterion. However, there is no equivalent item for female patients. We questioned 19 female patients with MSA of the parkinsonian type (MSA-P), 28 female patients with Parkinson's disease (PD), and 27 healthy controls on their genital sensitivity. A total of 47% of the MSA patients but only 4% of the PD patients and 4% of the control group admitted to reduced genital sensitivity, a highly significant difference (P < 0.001). Moreover, the appearance of reduced genital sensitivity in female MSA patients showed a close temporal relation to the onset of the disease. If these preliminary results can be confirmed and further specified in a larger sample, a historical item of reduced genital sensitivity in female patients might become a diagnostic feature for MSA, comparable to erectile dysfunction in male patients. 相似文献
29.
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