外生殖器部位非性传播性皮肤疾病的诊断

我国由于人口流动性高,加之无任何保护措施的性行为不断增加的趋势,性传播性疾患的发病快速增长。然而,同时也要认识到在外生殖器部位的非性传播性皮肤疾病,根据病因,分为23类,约200种皮肤病,为避免不必要的医疗纠纷,必须关注外生殖器部位非性传播性皮肤疾病的鉴别诊断。     

Lower mesodermal defects: A common cause of fetal and early neonatal death

Among the first 1,130 referrals to the Wisconsin Stillbirth Service Program 17 infants have been recognized to share phenotypic characteristics involving the genital, urinary, lower gastrointestinal, and axial skeletal systems. The pattern of abnormalities identified appears to be limited to structures sharing a common embryologic origin. These features, for the most part, are shown to be non-randomly associated. No clearly definable sub-groups within this population are demonstrable. The pattern of abnormalities is defined to include abnormalities of the following structures as pathogenetically primary features: lumbosacral vertebrae, kidneys, ureters, uterus/fallopian tubes, vagina, bladder, urethra, adrenals, gonads, anorectum, external genitalia, and umbilical arteries. An embryologic mechanism is proposed which explains this non-random association as arising secondary to disruption of structures derived from the lower portion of the primitive intra-embryonic mesoderm. The Lower Mesodermal Defects Sequence appears to be a rather common (and under-recognized) cause of stillbirth and immediate neonatal death. © 1994 Wiley-Liss, Inc.     

基于Ion Torrent S5平台的二代测序技术对HLA-DRB1基因分型模棱两可进行分析

目的基于Ion Torrent S5平台NGS法进行HLA-DRB1基因分型检测的模棱两可结果的种类、比例进行分析。方法对471例脐带血造血干细胞库标本采用基于Ion Torrent S5平台的二代测序法检测HLA-DRB1位点,并同步对其中的94例标本采用PCR-SBT测定HLA-DRB1位点,余下377例标本采用PCR-SSO流式磁珠法检测。使用分型软件指定NGS法的HLA-DRB1分型结果,以HLA-DRB1*后第三区的数字作为高分辨水平统计,直接计算法分析模棱两可组合比例。结果标本中470例HLA-DRB1基因NGS检测结果与PCR-SBT法或PCR-SSO法相符合;其中1例标本NGS法漏检一个等位基因,符合率为99.8%。NGS法检测结果中,471例标本中有160例标本HLA-DRB1等位基因型出现模棱两可,比例为33.97%(160/471)。最常见的模棱两可结果组合为DRB1*09∶01∶02/09∶21。结论基于Ion Torrent S5平台的NGS技术可降低HLA-DRB1基因分型的模棱两可结果比例,但仍有一定比例的模棱两可组合结果,同时应注意NGS法检测漏检等位基因的风险。     

原发性女性生殖器恶性黑色素瘤30例临床分析

目的 :分析了解原发于女性生殖器的恶性黑色素瘤的临床特点、治疗方法及预后影响因素。方法 :系统性回顾本院自 1991年 6月～ 2 0 0 1年 6月收治的 30例原发性女性生殖器恶性黑色素瘤患者的临床及其病理资料。结果 :30例原发性女性生殖器恶性黑色素瘤中 ,生存 >2年 10例 ,占 38 5 % (10 / 2 6 ) ;>3年 4例 ,占 15 4 % (4 / 2 6 ) ;>5年 3例 ,占 11 5 % (3/2 6 )。中位生存 :Ⅰ、Ⅱ期 (2 7 3个月、2 9 1个月 )与Ⅲ、Ⅳ期 (2 1 7个月、15 3个月 )比较 ,有显著性差异 (P <0 0 5 ) ;外阴恶黑(35 3个月 )与阴道恶黑 (2 0 3个月 )、宫颈恶黑 (17 6个月 )比较 ,有显著性差异 (P <0 0 5 ) ;手术组 (2 7个月 )与非手术组 (11 3个月 )比较 ,有非常显著性差异 (P <0 0 1) ;肿瘤浸润深度≤ 4mm(5 3 2个月 )与 >4mm(19 1个月 )比较 ,有非常显著性差异 (P <0 0 1) ;淋巴结无转移 (34 7个月 )与淋巴结转移 (14 1个月 )比较 ,有非常显著性差异 (P <0 0 1)。结论 :女性生殖器恶性黑色素瘤是一类恶性程度高、预后差的肿瘤 ,手术是治疗的主要手段 ;临床期别、肿瘤部位、肿瘤浸润深度、淋巴结转移及治疗方法是影响预后的因素 ;局部复发和早期远处转移是其预后差的主要原因     

CROHN'S DISEASE OF THE PREPUCE IN A 12-YEAR-OLD BOY: A Case Report and Review of the Literature

We report a case of Crohn's disease with involvement of the foreskin in a 12-year-old boy. One year previously, on the basis of clinical features (diarrhea with blood, perianal fissures) and histologic examination, a diagnosis of Crohn's disease was made. Subsequently, he developed phimosis and balanitis and underwent circumcision. Sections submitted from the foreskin revealed noncaseating granulomatous inflammation consistent with Crohn's disease. Crohn's disease with involvement of the genitalia is unusual. Only 26 cases including our case have been reported in the scientific literature. We have analyzed these cases with emphasis on gender, age, clinical features, duration of Crohn's disease, and probable mode of spread to the genitalia. Careful examination of sections from genital lesions, including those submitted from the foreskin, is essential to detect small isolated granulomas that may then lead to the diagnosis of inflammatory bowel disease.     

Mutational Analysis of Androgen Receptor (AR) Gene in 46,XY Patients with Ambiguous Genitalia and Normal Testosterone Secretion: Endocrinological Characteristics of Three Patients with AR Gene Mutations

The prevalence of abnormalities in androgen receptor gene (AR) among patients with ambiguous genitalia is unknown. Moreover, endocrinological data from prepubertal patients with AR mutation are very limited. Thus, the aim of this study was to examine the prevalence of abnormalities in AR among patients with both ambiguous genitalia, which was defined as a combination of two or more genital abnormalities (i.e. hypospadias, microphallus (penile length < 25 mm), hypoplastic scrotum, bifid scrotum, undescended testis) in this study, and normal to elevated T levels. We also compared the endocrinological data of prepubertal patients with AR mutation and ambiguous genitalia with that of those without the AR mutation. We screened 26 Japanese prepubertal 46,XY patients (five from three families were included) with both ambiguous genitalia and normal to elevated T levels. Mutations in AR were found in three (two of the three were related). Among the 23 patients without mutation in AR, the steroid 5-alpha-reductase 2 gene (SRD5A2) was also examined in eight patients with elevated T/dehydrotestosterone ratio after the hCG (>10) or with undervirilized family members. No mutation in SRD5A2 was found. Characteristics of the three patients with mutation in AR were compared with the 23 patients without mutation. In two patients, basal T levels (0.3, 0.2 ng/ml) and peak T levels after the hCG tests (8.3, 8.5 ng/ml) tended to be higher, and the peak LH/ peak FSH ratios after the GnRH tests (4.6, 4.0) were higher than in patients without mutation, at the ages of 1 yr and 9 mo and 3 yr and 8 mo, respectively. In conclusion, an abnormality in either AR or SRD5A2 was not common among patients with ambiguous genitalia and normal testosterone secretion. Elevated peak LH/peak FSH ratio (≥4) after the GnRH test in addition to detectable basal T levels and elevated peak T levels after the hCG test may infer AR abnormality in prepubertal patients with ambiguous genitalia at the age of one and over, although further study is needed, because our data were limited.     

Ultrasound of the paediatric urogenital tract

Pathology in the urinary tract is one of the most frequent queries when children are referred for an ultrasound examination. Comprehensive ultrasound examinations can answer most clinical questions of the urogenital tract with minimal patient preparation and without the use of ionising radiation. Therefore, optimised imaging protocols should be available in all radiology departments where children are examined. This review suggests a preferred imaging protocol for urogenital imaging in children and gives an overview of the different structures of the urogenital tract, the normal age-related sonographic anatomy, and gives examples of the most commonly encountered diseases of the urogenital system in children.