Effect of single and compound knockouts of estrogen receptors alpha (ERalpha) and beta (ERbeta) on mouse reproductive phenotypes. (65/1471)

The functions of estrogen receptors (ERs) in mouse ovary and genital tracts were investigated by generating null mutants for ERalpha (ERalphaKO), ERbeta (ERbetaKO) and both ERs (ERalphabetaKO). All ERalphaKO females are sterile, whereas ERbetaKO females are either infertile or exhibit variable degrees of subfertility. Mast cells present in adult ERalphaKO and ERalphabetaKO ovaries could participate in the generation of hemorrhagic cysts. Folliculogenesis proceeds normally up to the large antral stage in both ERalphaKO and ERbetaKO adults, whereas large antral follicles of ERalpha+/-ERbetaKO and ERalphabetaKO adults are markedly deficient in granulosa cells. Similarly, prematurely developed follicles found in prepubertal ERalphaKO ovaries appear normal, but their ERalphabetaKO counterparts display only few granulosa cell layers. Upon superovulation treatment, all prepubertal ERalphaKO females form numerous preovulatory follicles of which the vast majority do not ovulate. The same treatment fails to elicit the formation of preovulatory follicles in half of the ERbetaKO mice and in all ERalpha+/-/ERbetaKO mice. These and other results reveal a functional redundancy between ERalpha and ERbeta for ovarian folliculogenesis, and strongly suggest that (1) ERbeta plays an important role in mediating the stimulatory effects of estrogens on granulosa cell proliferation, (2) ERalpha is not required for follicle growth under wild type conditions, while it is indispensable for ovulation, and (3) ERalpha is also necessary for interstitial glandular cell development. Our data also indicate that ERbeta exerts some function in ERalphaKO uterus and vagina. ERalphabetaKO granulosa cells localized within degenerating follicles transform into cells displaying junctions that are unique to testicular Sertoli cells. From the distribution pattern of anti-Mullerian hormone (AMH) in ERalphabetaKO ovaries, it is unlikely that an elevated AMH level is the cause of Sertoli cell differentiation. Our results also show that cell proliferation in the prostate and urinary bladder of old ERbetaKO and ERalphabetaKO males is apparently normal.  (+info)

Sonographic pattern of recessive polycystic kidney disease in young adults. Differences from the dominant form. (66/1471)

BACKGROUND: To study the sonographic pattern of autosomal recessive polycystic kidney disease (ARPKD) in early adulthood in order to identify imaging criteria to diagnose this disease and to distinguish between recessive and autosomal dominant polycystic kidney disease (ADPKD) in that age group. METHODS: An abdominal ultrasound was performed on four ARPKD subjects (with a mean age of 20.2) and on 33 ADPKD subjects in early adulthood (29 without renal failure with a mean age of 20.5, and four with renal failure with a mean age of 26.5). Linkage studies with ADPKD and ARPKD markers were compatible with the clinical diagnosis in all cases. RESULTS: The renal sonographic features in ARPKD subjects included multiple small cysts in a normal-sized kidney, increased cortical echogenicity and loss of corticomedullary differentiation. In ADPKD subjects without renal failure, sonographic features included few or multiple cysts of different sizes, in normal-sized kidneys in 22 out of 29 patients (75.8%), normal cortical echogenicity and conserved corticomedullary differentiation, except in patients with nephromegaly. All ADPKD subjects with renal failure had nephromegaly and loss of corticomedullary differentiation. The hepatic sonographic features in ARPKD patients included portal fibrosis and in some cases Caroli's disease, while in ADPKD patients a normal hepatic echostructure was detected in all but one case, in addition to simple hepatic cysts in a few cases. CONCLUSIONS: The evaluation of the sonographic features of the kidneys and those of the liver may help in the differential diagnosis between ARPKD and ADPKD in early adulthood.  (+info)

Laparoscopic surgery in infants with intra-abdominal cysts: two case reports. (67/1471)

OBJECTIVES: We report two cases of infants found to have congenital omental cystic lesion with torsion and ovarian cyst treated by laparoscopy-assisted surgery (LAS). METHODS: A laparoscope was inserted by an open method. The intra-abdominal pressure was maintained at 8 mm Hg. We diagnosed the cystic lesions with torsion. At aspirator was used to aspirate the cystic content and remove the cyst. RESULTS: No intra- or postoperative complications were encountered. Oral intake was commenced on postoperative day 2 in both patients. The cosmetic results following LAS were excellent. CONCLUSIONS: We conclude that LAS is suitable for the management of omental cystic lesions with torsion and ovarian cyst in nursing infants. An aspirator is useful in preventing spillage of cystic contents in patients with intra-abdominal cystic lesion.  (+info)

Colloid cyst of the third ventricle: imaging-pathologic correlation. (68/1471)

Colloid cysts are relatively rare intracranial lesions located in the rostral aspect of the third ventricle. They may produce acute hydrocephalus, brain herniation, and lead to death. Although the clinical and imaging features of colloid cysts are well known, their etiology and the factors responsible for their imaging features continue to be a subject of debate. We present the imaging-pathologic correlation of a patient with a colloid cyst as well as data supporting the fact that the presence of cholesterol is probably responsible for the MR imaging features exhibited by some colloid cysts.  (+info)

Role of color Doppler ultrasonography in the diagnosis of endometriotic cyst. (69/1471)

We studied the role of color Doppler ultrasonography in the distinction between endometriomas and other adnexal masses. Three hundred and fifty-two ovarian lesions were studied, comparing sonographic diagnosis with pathologic findings. On color Doppler sonography, an endometriotic cyst usually appeared as a cystic lesion with diffuse internal echoes and low vascularization. The sensitivity and specificity of color Doppler transvaginal sonography in detecting endometriotic cysts were 91.8% and 95.3%, respectively. The positive and negative predictive values were 95.5% and 91.5%, respectively. In our experience, transvaginal sonography with color Doppler interrogation is a useful technique in the diagnosis of pathologic ovarian conditions, including cystic endometriosis.  (+info)

Multiple branchial cleft-like cysts in a female patient with Hashimoto's thyroiditis. (70/1471)

We report a case of branchial cleft-like cysts (intrathyroidal lymphoepithelial cysts) associated with Hashimoto's thyroiditis. Palpation did not detect any nodules. Multiple cystic lesions were detected in the lateral side of the thyroid bilateral lobes by imagings of an I-123 scintigram, Tl-201 scintigram, sonography, and computerized tomography. Sonography displayed multiple cysts with strong echogenic spots in the cystic fluid. Repeated fine needle aspiration biopsies of the cysts consistently revealed only normal lymphocytes. Although these lesions could not be given diagnosis, subtotal thyroidectomy leaving the intact isthmus was performed. Microscopic findings revealed multiple branchial cleft-like cysts lined by flattened epithelial cells. Surrounding the epithelial lining were dense lymphoid follicles with large, reactive germinal centers. The remaining thyroid parenchyma showed Hashimoto's thyroiditis. Multiple branchial cleft-like cysts should be considered when sonographic examination reveals multiple cysts in the lateral side of the bilateral lobes, and fine needle aspiration biopsy displays only normal lymphocytes. To our knowledge, this is the first case of branchial cleft-like cysts associated with Hashimoto's thyroiditis reported in Japan.  (+info)

Biliary cysts. (71/1471)

This review brings the total number of biliary cysts reported in the world literature to 955. Eighty-one per cent of patients are females and 61% were discovered before age ten. The classical triad of right upper quadrant pain, right upper quandrant mass, and juandice is present in 38% of cases. The duration of symptoms prior to diagnosis ranged from less than one week to more than 40 years. The etiology is multifaceted and evidence of the existence of both acquired and congenital cysts is presented. The most useful diagnostic tool is fiberoptic endoscopy with retrograde contrast injection of the common bile duct and pancreatic duct. The incidence of biliary carcinoma in patients with biliary cysts is found to be 2.5%; 24 cases have been reported. Considerable controversy has existed concerning the best operative procedure for biliary cysts; no treatment or medical treatment yielding a 97% mortality rate. In an analysis of 235 patients presented since 1968 with an average followup of 5.2 years, the best procedure appears to be excision with either choledochocholedocostomy or Roux-en-Y hepaticojejunostomy. The operative mortality for all procedures is now 3 to 4%.  (+info)

Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1. (72/1471)

Polycystic liver disease (PCLD) is characterized by the growth of fluid-filled cysts of biliary epithelial origin in the liver. Although the disease is often asymptomatic, it can, when severe, lead to complications requiring surgical therapy. PCLD is most often associated with autosomal dominant polycystic kidney disease (ADPKD); however, families with an isolated polycystic liver phenotype without kidney involvement have been described. The clinical presentation and histological features of polycystic liver disease in the presence or absence of ADPKD are indistinguishable, raising the possibility that the pathogenetic mechanisms in the diseases are interrelated. We ascertained two large families with polycystic liver disease without kidney cysts and performed a genomewide scan for genetic linkage. A causative gene, PCLD, was mapped to chromosome 19p13.2-13.1, with a maximum LOD score of 10.3. Haplotype analysis refined the PCLD interval to 12.5 cM flanked by D19S586/D19S583 and D19S593/D19S579. The discovery of genetic linkage will facilitate diagnosis and study of this underdiagnosed disease entity. Identification of PCLD will be instrumental to an understanding of the pathogenesis of cyst formation in the liver in isolated PCLD and in ADPKD.  (+info)