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81.
先天性肾上腺皮质增生伴睾丸间质细胞腺瘤性增生一例报告并文献复习 总被引:1,自引:1,他引:0
目的提高对先灭性肾上腺皮质增生伴睾丸间质细胞腺瘤性增生的认识。方法总结1例先天性肾上隙皮质增生伴睾丸间质细胞腺瘤性增生患者资料。患者,男,25岁。以双侧睾丸结节就诊。查体见双侧睾丸、附睾结节感,右睾丸增大,表面凹凸不平,质地硬。实验审检查睾酮(T)18.7nmol/L、17α-羟化酶(17α-(OH)P)〉20.0ng/ml、快速ACTH兴奋试验阳性、中剂量地塞米松抑制试验阳性。B超提示双睾丸弥漫性病变合并部分占位,示双侧肾上腺皮质增生。睾丸活枪结果为间质细胞增生结节,免疫组化α-inhibin(+)。结果结合病史、实验室、影像学及病理学检查诊断为先大性肾上腺皮质增生伴睾丸间质细胞腺瘤性增生。口服氢化可的松替代治疗,40mg/d,2周后30mg/d维持治疗,8个月后超声检查双侧睾丸结节消退。随访2年,肿物无复发。结论双侧睾丸肿块应结合病史和内分泌检查除外先天性肾上腺皮质增生伴睾凡间质细胞腺瘤性增生,经口服皮质激素替代治疗,激素敏感型睾丸间质细胞腺瘤性增生可以消退。 相似文献
82.
检测18例体外循环紫绀型先天性心脏病手术病人术前,术中及术后3,8天外周血血小数量和 附,聚集功能,探讨体外循环对血小板质和量的影响。结果显示,血小板数量和聚集功能在术后显著下降并持续至术后8天,血小板粘附功能显著下降,术后3天恢复。提示体外循环气血界面,人工材料非内皮表面可导致血小板激活,粘附,聚集面在量消耗,数量和功能显著下降。 相似文献
83.
84.
Complete congenital heart block (CCHB) affects 1:20,000–25,000 live births and is usually an atrioventricular block; 30–50% of fetuses with CCHB will have a structural anomaly, though recently attention has focused on the etiological influence of autoimmune disease, such as systemic lupus erythematosus. The diagnosis is established by detailed two-dimensional ultrasound scanning of the heart to exclude anomaly coupled with M-mode echocardiography and Doppler blood velocity patterns in the major vessels to detect the uncoupling of atrial and ventricular rhythms. Risk factors for an affected child are discussed. A previously affected child, high titers of anti-Ro antibodies, the presence of anti-Ro (SS-A) and anti-La (SS-B), and maternal HLA DR3 confer high risk. Antibody mediated CCHB is irreversible. Plasmapheresis and immunosuppression have been attempted in affected mothers, with limited success, to reduce the likelihood of the fetus being affected, and steroids have been used to reduce the inflammatory reaction in the heart. In many cases the underlying pathology of the immune system adversely affects utero-placental function requiring careful monitoring of fetal well-being. CCHB renders fetal heart rate monitoring virtually useless, in the antenatal and intrapartum periods. Alternatives are explored. 相似文献
85.
Noriko Aida 《Journal of magnetic resonance imaging : JMRI》1998,8(2):317-326
We reviewed neuroradiologic findings of Fukuyama congenital muscular dystrophy (FCMD) and correlated them with the known neuropathology. All patients showed thick and bumpy cortices with shallow sulci corresponding to polymicrogyria, and approximately half of the patients showed pachygyric cortex with smooth surface corresponding to type II lissencephaly. The two types of cortical dysplasias presented characteristic distributions: the former demonstrated frontal lobe involvement in all and parietotemporal lobe involvement in some, whereas the latter involved the temporo-occipital lobes. Most patients showed prolonged T1 and T2 signal in the white matter, which was indistinct in neonates and infrequently seen in adolescents. Cerebellar polymicrogyria depicted as disorganized cerebellar foliation accompanying cysts were found more than 90% of the patients. In conclusion, brain MRI demonstrates findings consistent with the known neuropathology of FCMD. The detection of the two types of cerebral cortical dysplasia with characteristic distribution and cerebellar abnormalities is helpful in the differential and early diagnosis. 相似文献
86.
Anthonie J. van Essen Coen J. F. Schoots Richard A. van Lingen Marian J. E. Mourits Joep H. A. M. Tuerlings Bieke Leegte 《American journal of medical genetics. Part A》1993,47(1):85-88
We report on the clinical and pathologic findings in a girl with isochromosome 18q (46, XX,i(18q)) who had combined manifestations of monosomy 18p and trisomy 18q. Major congenital anomalies included premaxillary agenesis, alobar holoprosenphaly, double Outlet right ventricle, DiGeorge anomaly and streak ovaries. The clinical spectrum in i(18q) is very broad. © 1993 Wiley-Liss, Inc. 相似文献
87.
Open reduction and varus-detorsion osteotomy with femoral shortening in treatment of congenital dislocation of the hip 总被引:2,自引:0,他引:2
In this study, we clinically and radiographically evaluated open reduction with shortening of the femur in children more
than 1 year old with refractory congenital dislocation of the hip. In 19 children (aged 1–4 years), 22 joints were operated
on. The patients were followed-up for an average of 8.7 years (range, 2–13 years). Functional results were satisfactory in
all joints, and differences in limb length were not significant. Radiographically, good results (grades I and II) were obtained
in 16 of the 22 joints, according to Severin's criteria. This surgical procedure may be indispensable for treating refractory
congenital dislocation of the hip in children over 1 year old.
Received for publication on May 2, 1997; accepted June 3, 1998 相似文献
88.
Wing-Yen Wong Donald Williams Marilyn L. Slovak Bishan Charak Amitabha Mazumder David Snyder Darleen R. Powars Russell K. Brynes 《American journal of hematology》1993,43(2):133-138
Congenital agranulocytosis terminating in acute myelogenous leukemia has been previously reported in only two cases of adolescent males. We describe the clinical and laboratory features of a 13-year-old male with congenital agranulocytosis, treated with G-CSF with initial good neutrophil response, who subsequently developed acute myeloid leukemia. This rare complication may define a preleukemic subset of patients for whom G-CSF therapy is ineffective. The diagnostic challenges of this case are presented. 相似文献
89.
Women's life situation and experiences during pregnancy were prospectively studied in relationship to the development of congenital malformations (CMs) in their offspring, within samples of 84 offspring of pregnant index women with a history of nonorganic psychosis and 100 offspring of pregnant control women. Within both samples, offspring CMs were related to more problematic maternal life situations during pregnancy, the common denominator in these problems across samples being difficulties associated with the husband. Little relationship was found between CMs and the woman's own attitude toward the pregnancy or her mental condition during pregnancy. In both groups, total life situational problems and distress were more strongly related to the development of very minor CMs (termed "variants") than to the major, classical CMs. 相似文献
90.
Josephine Shallo-Hoffmann Dirk Watermeier Jürgen Petersen Hermann Mühlendyck 《Neurosurgical review》1988,11(2):151-158
Verification of inheritance in congenital nystagmus (CN) is only possible through the identification of more than one affected member in a family, since in a single case there are no accurate clinical differentiations between spontaneous and inherited CN. We performed electronystagmographic examinations (ENG) to search for abnormal involuntary eye movements as a sign of heredity in seemingly unaffected members of CN families.ENG registrations were performed under three test conditions: (1) with the subject fixating a target, (2) with the room lights off and (3) with closed eyes.Fifty normally sighted individuals (group (a) underwent the test procedure to provide a baseline of normality. Five CN families (three dominant, two sex-linked recessive) were tested as group (b). The eye movement recordings were analysed in terms of nystagmus intensity (amplitude x frequency of the involuntary saccade). In every one of the five families, abnormalities in seemingly non-affected members could be demonstrated: in four families, fastphase instabilities, in the fifth family a true (CN) (slowphase instability).All certain gene carriers were diagnosed correctly by the ENG.These findings indicate a method for detecting slightly affected members in dominant pedigrees and female gene carriers in sex-linked mode of transmission. 相似文献