Abstract:
CONTEXT:Glomerular cysts, defined as Bowman space dilatation greater than 2 to 3 times normal size, are found in disorders of diverse etiology and with a spectrum of clinical manifestations. The term glomerulocystic kidney (GCK) refers to a kidney with greater than 5% cystic glomeruli. Although usually a disease of the young, GCK also occurs in adults. OBJECTIVE:To assess the recent molecular genetics of GCK, review our files, revisit the literature, and perform in silico experiments. DATA SOURCES:We retrieved 20 cases from our files and identified more than 230 cases published in the literature under several designations. CONCLUSIONS:Although GCK is at least in part a variant of autosomal dominant or recessive polycystic kidney disease (PKD), linkage analysis has excluded PKD-associated gene mutations in many cases of GCK. A subtype of familial GCK, presenting with cystic kidneys, hyperuricemia, and isosthenuria is due to uromodullin mutations. In addition, the familial hypoplastic variant of GCK that is associated with diabetes is caused by mutations in TCF2, the gene encoding hepatocyte nuclear factor-1beta. The term GCK disease (GCKD) should be reserved for the latter molecularly recognized/inherited subtypes of GCK (not to include PKD). Review of our cases, the literature, and our in silico analysis of the overlapping genetic entities integrates established molecular-genetic functions into a proposed model of glomerulocystogenesis; a classification scheme emerged that (1) emphasizes the clinical significance of glomerular cysts, (2) provides a pertinent differential diagnosis, and (3) suggests screening for probable mutations.
journal_name
Arch Pathol Lab Medjournal_title
Archives of pathology & laboratory medicineauthors
Lennerz JK,Spence DC,Iskandar SS,Dehner LP,Liapis Hdoi
10.1043/1543-2165-134.4.583subject
Has Abstractpub_date
2010-04-01 00:00:00pages
583-605issue
4eissn
0003-9985issn
1543-2165pii
10.1043/1543-2165-134.4.583journal_volume
134pub_type
历史文章,杂志文章,评审abstract::Chlamydia trachomatis and the genital mycoplasmas are significantly prevalent in sexually active women. How these organisms may affect the outcome of pregnancy and the neonate was the principal thrust of this investigation. Placenta, liver, and lung tissue were cultured from Mycoplasma hominis, Ureaplasma urealyticum,...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1988-07-01 00:00:00
abstract::Human leukocyte antigen typing is currently being done by both serologic and cellular techniques. It is this methodology that forms the basis for organ transplantation, since HLA antigens are the major proteins involved in graft rejection. Matching organ graft donors with recipients at these polymorphic HLA loci clear...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1988-01-01 00:00:00
abstract::This study shows that the endothelial cell turnover over the early porcine atherosclerotic lesion is more or less uniform in distribution. This is contrary to the findings in White Carneau pigeons where the increased endothelial cell turnover has a zonal pattern, being much greater at the lesion edge. The difference i...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1985-05-01 00:00:00
abstract::Pseudomyogenic hemangioendothelioma (PMH) is a rare vascular tumor that presents more frequently in young adults and has a male predominance. It is usually located in the superficial or deep soft tissues of the extremities, but concurrent bone involvement can be present. In approximately two-thirds of patients this di...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:10.5858/arpa.2018-0395-RS
更新日期:2020-04-01 00:00:00
abstract::In this article we present a case of an ectopic gestation having morphologic features of a partial hydatidiform mole and demonstrating triploidy by flow cytometry in a patient presenting at 9 weeks' gestation. We include brief comments on partial hydatidiform mole. ...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1993-06-01 00:00:00
abstract::A uterine tumor from a 34-year-old woman was investigated morphologically and immunohistochemically. The tumor tissue was composed of multiple cystic spaces of various sizes. The cyst wall was covered by a single layer or occasionally multiple layers of flattened cells. Electron micrographs of the tumor tissue reveale...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1985-11-01 00:00:00
abstract::Intraosseous benign notochordal cell tumor is a presumably benign, intravertebral lesion of notochord origin, which can be found incidentally on removal of the vertebra for unrelated lesions or during an autopsy. The notion of a larger benign notochordal cell tumor that is macroscopic, occasionally symptomatic, and se...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:10.1043/1543-2165-134.2.283
更新日期:2010-02-01 00:00:00
abstract::Langerhans cell histiocytosis (LCH) is a neoplastic proliferation of Langerhans cells that occurs in a range of nodal and extranodal sites. Scattered reports of LCH within the thymus exist, typically among children within the setting of multifocal, multisystem disease. Rare cases of isolated LCH involving the thymus h...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:10.1043/1543-2165(2003)127
更新日期:2003-07-01 00:00:00
abstract::Until 1972, Kawasaki disease, or acute febrile infantile mucocutaneous lymph node syndrome (MCLS), was considered in Japan to be a nonfatal disease with a favorable prognosis. Based on the findings from two autopsy cases of MCLS, we believe that sudden and unexpected death during convalescence may be due to arterial l...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1976-02-01 00:00:00
abstract:CONTEXT:Fine-needle aspiration has been the initial step in the workup of thyroid nodular lesions and has successfully reduced the number of unnecessary surgeries and improved preoperative malignancy detection. However, up to one-third of cases fall in the diagnostically "indeterminate group," which poses a patient-man...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:10.5858/arpa.2014-0245-RA
更新日期:2015-12-01 00:00:00
abstract::The concentration of neuron-specific enolase (NSE, gamma-subunit of enolase) in tumor extracts of 25 nonargyrophilic and seven argyrophilic carcinomas of the female breast was measured by radioimmunoassay. The mean concentration of NSE in nonargyrophilic carcinomas was 89 ng/mg of protein, (range, 9 to 281 ng/mg), and...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1987-09-01 00:00:00
abstract:CONTEXT:- The Ki-67 index is strongly prognostic and is used as a surrogate marker to distinguish luminal A from luminal B breast cancer types. OBJECTIVE:- To investigate differences in Ki-67 index between core needle biopsy samples and matched surgical samples in breast cancer. DESIGN:- We included patients with inv...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.5858/arpa.2017-0014-OA
更新日期:2018-03-01 00:00:00
abstract::Values for total lactate dehydrogenase (LDH; EC 1.1.1.27) activity and LDH isoenzymes 1 and 2 were determined in 80 patients with acute myocardial infarction (AMI) and in 40 without AMI every 24 hours up to 15 days after admission, when total serum LDH level returned to normal. The sensitivity, specificity, and effici...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1988-09-01 00:00:00
abstract::Primary leiomyosarcoma of bone is extremely rare. A 60-year-old woman had a mass in the right femur that was studied immunohistochemically and by electron microscopy. Human smooth-muscle actomyosin was detected in tumor cells, but human skeletal-muscle myoglobin and lysozyme (muramidase) were not. Electron microscopy ...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1983-08-01 00:00:00
abstract::Pulmonary blastomas are rare primary tumors that consist of tubular or glandular structures embedded in an undifferentiated mesenchymal stroma. Focal cartilage, bone, and skeletal muscle as well as squamous differentiation have been described in these tumors. We report a unique case of a pulmonary blastoma showing a m...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1990-10-01 00:00:00
abstract::Context.-We investigated expression of the adhesion molecule CD31 in sinus histiocytosis with massive lymphadenopathy (SHML) and Langerhans cell histiocytosis (LCH) because (1) SHML and LCH cells express a variety of cellular adhesion molecules and (2) SHML has been characterized as a reactive histiocytic proliferatio...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/0003-9985(2003)127<0341:SHWMLA>2.0.CO;2
更新日期:2003-03-01 00:00:00
abstract::Three fatal cases of heat stroke were encountered in the central New York area over a two-month period. Although in each instance one or more predisposing factors were identified, exertion clearly played a role in its development in only one case. In addition to laboratory and postmortem findings indicative of dysfunc...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1980-07-01 00:00:00
abstract::In an earlier survey, we asked private practitioners in San Francisco about their perceptions of fine-needle aspiration biopsy (FNAB). In the present study we sent the same survey to clinicians in our hospital, a tertiary medical center. Although the response rate to this survey was lower, it appears that FNAB is used...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1986-09-01 00:00:00
abstract:CONTEXT:The rapid advances of computer technologies have created a new e-learner generation of "Homo-zappien" students that think and learn differently. Digital gaming is an effective, fun, active, and encouraging way of learning, providing immediate feedback and measurable process. Within the context of ongoing reform...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/2009-0698-OAR1.1
更新日期:2011-01-01 00:00:00
abstract::The spirochete, Treponema pallidum, the causative agent of syphilis, has been successfully localized in formaldehydefixed and paraffin-embedded tissue sections using rabbit anti-T pallidum antiserum with two immunoperoxidase techniques. These techniques, the indirect peroxidase-labeled antibody method and the peroxida...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1979-03-01 00:00:00
abstract::Gene rearrangement analysis has emerged as a precise laboratory aid in the diagnosis and classification of malignant lymphoma and leukemia. Both clonality and lineage can be identified in lymphoid neoplasms by the demonstration of rearrangements of antigen receptor genes of the immunoglobulin supergene family--immunog...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:
更新日期:1988-02-01 00:00:00
abstract:BACKGROUND:Pulmonary lymphangioleiomyomatosis (LAM), a disease of young women, is characterized by proliferation of abnormal smooth muscle cells (LAM cells), which often differ from normal pulmonary smooth muscle cells by frequently having estrogen and progesterone receptors. OBJECTIVE:To evaluate the relationships am...
journal_title:Archives of pathology & laboratory medicine
pub_type: 临床试验,杂志文章
doi:
更新日期:1998-10-01 00:00:00
abstract::The monoclonal antibody HMB-45 is a highly specific and sensitive marker of malignant melanoma. Rarely, however, aberrant reactivity to nonmelanocytic tumors has been observed. We report an immunoblastic lymphoma of B-cell phenotype that reacted with HMB-45 in a 70-year-old white woman. To our knowledge, this is the f...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:
更新日期:1991-08-01 00:00:00
abstract::Although mucoepidermoid carcinoma is the most common primary malignancy of the salivary glands, the sclerosing morphologic variant of this tumor is extremely rare, with only 6 reported cases. As its name suggests, sclerosing mucoepidermoid carcinoma is characterized by an intense central sclerosis that occupies the en...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:10.1043/1543-2165(2004)128<1046:SMCOTP>2.0.CO;2
更新日期:2004-09-01 00:00:00
abstract::A 42-year-old man with acquired immunodeficiency syndrome developed a mass of the right parotid gland and multiple hepatic masses. Hematoxylin-eosin-stained sections of the parotid lesion showed a diffuse infiltrate of large mononuclear cells with vesicular nuclei and prominent nucleoli, consistent with a non-Hodgkin ...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/0003-9985(2002)126<0738:NKLTCL>2.0.CO;2
更新日期:2002-06-01 00:00:00
abstract::A 25-year-old woman, multigravida, presented with a dark ulcerated tumor of the clitoris. Histologic examination demonstrated an angiokeratoma, a benign telangiectatic vascular tumor. To our knowledge, this is the first report of angiokeratoma of the clitoris and only the fifth describing vascular tumor of this organ....
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1992-08-01 00:00:00
abstract::Yeast forms of Blastomyces dermatitidis typically range from 8 to 20 microm in largest diameter. We report a rare case of primary pulmonary blastomycosis with an unusual morphology, in which we found significant numbers of large yeast forms ranging from 30 to 35 microm in diameter. To our knowledge, this is only the s...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/0003-9985(2001)125<0663:BDWLYF>2.0.CO;2
更新日期:2001-05-01 00:00:00
abstract::We analyzed the autopsy records of 261 patients with breast carcinoma, who died at The Institute of Oncology, Ljubljana, Yugoslavia, for the presence of metastases to the central nervous system, particularly for the presence of leptomeningeal carcinomatosis. Metastases to the central nervous system were found in 41 (1...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:
更新日期:1991-05-01 00:00:00
abstract:CONTEXT:Foreign material typically elicits reactions dominated by multinucleated giant cells. Pulse granulomas are peculiar reactions to particles of food that are characterized by clusters of small to medium-sized hyaline rings. Pulse granulomas are rare and have occupied only the lungs, in association with aspiration...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章
doi:10.1043/1543-2165(2006)130[1839:PGDIGF]2.0.CO;2
更新日期:2006-12-01 00:00:00
abstract:CONTEXT:The uses of monoclonal antibodies via immunochemistry have been reported frequently within the literature using various methodologies with applications to cytology specimens. The direct application of immunochemistry to cytology may have a variety of pitfalls that the general pathologist familiar with its appli...
journal_title:Archives of pathology & laboratory medicine
pub_type: 杂志文章,评审
doi:10.1043/1543-2165(2008)132[373:AOITC]2.0.CO;2
更新日期:2008-03-01 00:00:00