Abstract:
OBJECTIVES:α1-Antitrypsin (AAT) deficiency is associated with an increased risk for lung and liver disease. Identification of AAT deficiency as the underlying cause of these diseases is important in correct patient management. METHODS:AAT deficiency is commonly diagnosed by demonstrating low concentrations of AAT followed by genotype and/or phenotype testing. However, this algorithm may miss novel AAT phenotypes. RESULTS:We report two cases of AAT deficiency in two patients: a case of the novel phenotype PiISF, misclassified as PiII by phenotyping, and a case of the rare phenotype PiMmaltonZ misclassified as PiM2Z. CONCLUSIONS:These cases highlight the importance of understanding the limitations of a commonly used diagnostic algorithm, use of further gene sequencing in applicable cases, and the potential for underdiagnosis of AAT deficiency in patients with chronic obstructive pulmonary disease.
journal_name
Am J Clin Patholjournal_title
American journal of clinical pathologyauthors
Suh-Lailam BB,Procter M,Krautscheid P,Haas J,Kumar S,Mao R,Grenache DGdoi
10.1309/AJCPR7EIQS8PIMLVsubject
Has Abstractpub_date
2014-05-01 00:00:00pages
742-6issue
5eissn
0002-9173issn
1943-7722pii
141/5/742journal_volume
141pub_type
杂志文章abstract::Forty-three laboratories participated in an interlaboratory testing program offered by the College of American Pathologists for the radioimmunoassay (RIA) of carcinoembryonic antigen (CEA). Thirty correctly reported a sample with 1.9 ng of endogenous CEA per ml as less than 2.5 ng. For samples with added exogenous CEA...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:
更新日期:1977-07-01 00:00:00
abstract::A clinically and histopathologically well-documented case of malignant carcinoid tumor (with carcinoid syndrome) is described. The presence of numerous psammoma bodies in metastatic carcinoid tumor deposits, confirmed by histochemical and ultrastructural analyses, represents a heretofore unreported finding. ...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1093/ajcp/81.3.372
更新日期:1984-03-01 00:00:00
abstract::We compared the grading and staging of transurethral resection of the bladder (TURB) and cystectomy specimens for 105 patients who underwent radical cystectomy for urothelial carcinoma between 1980 and 1984. Of 105 patients, 96% underwent cystectomy within 100 days of TURB (median interval, 10 days). Grading was perfo...
journal_title:American journal of clinical pathology
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abstract:Objectives:Diagnosis of B-cell acute lymphoblastic leukemia (B-ALL) requires immunophenotypic evidence of B-lineage and absence of specific myeloid or T-lineage markers. Rare cases of otherwise typical B-ALL express myeloperoxidase (MPO) detectable by flow cytometry with an absence of other myeloid markers, but the cli...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
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abstract::A survey of adult patients admitted to a general hospital showed that 1.5% had hepatitis B surface antigen in the blood and 22% had hepatitis antibody. The majority of patients with hepatitis B did not have clinical hepatitis and would not have been recognized without screening all hospital admissions for hepatitis B ...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1093/ajcp/67.3.257
更新日期:1977-03-01 00:00:00
abstract::Upon hospital admission a patient was found to have severe anemia and a strongly positive direct antiglobulin test (DAT). The patient was taking probenecid periodically for gout. An antibody was detected in the patient's serum that only reacted with red blood cells (RBCs) when probenecid was added. Eluates from the pa...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1093/ajcp/84.3.391
更新日期:1985-09-01 00:00:00
abstract::The immunochemical characterization of the light chains of the mesangial immunoglobulin A (IgA) deposits were studied in 45 patients with IgA nephropathy. Kappa and lambda light chains were detected with direct immunofluorescence (IF) method, using monospecific rabbit anti-human anti-kappa and anti-lambda anti-sera. T...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
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更新日期:1986-05-01 00:00:00
abstract::We sought to characterize how well computerized "case flags" performed in evaluating critical diagnoses in anatomic pathology. All cases identified by a pathologist at sign-out and flagged as a critical diagnosis in anatomic pathology in 2 hospital laboratories during a 3-year period were reviewed. A subset of all cri...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1309/AJCPL1N5KBAFFDHV
更新日期:2012-03-01 00:00:00
abstract::The cytologic features of fine-needle aspiration specimens from 16 breast carcinomas that closely simulated benign lesions were analyzed and compared to smears from fibroadenomas and fibrocystic change. No combination of features was found that accurately separated all benign and malignant cases. Many nuclei with disc...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1093/ajcp/98.2.155
更新日期:1992-08-01 00:00:00
abstract::A comparative evaluation of two commercial kits that detect antinuclear antibodies via indirect immunofluorescence was undertaken using an adult ambulatory population. The sensitivity and specificity of the kits were compared to determine which of the two was more efficient as a screening test for systemic lupus eryth...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
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更新日期:1984-03-01 00:00:00
abstract::Campylobacter fetus subspecies jejuni has recently been recognized as a significant cause of enteritis in humans. The organism has been previously postulated to cause illness by direct invasion of the mucosa of the gastrointestinal tract, but this has not been documented. Reported is a case of Campylobacter enteritis ...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1093/ajcp/73.5.706
更新日期:1980-05-01 00:00:00
abstract::The Philadelphia chromosome (Ph) is found in most chronic myelogenous leukemia (CML) patients. The bcr-abl oncoprotein (P210 or P185), the product of the fused bcr-abl gene produced by the Ph, is known to be the major factor in initiation and maintenance of the leukemic state in these types of leukemias. The authors h...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1093/ajcp/106.4.442
更新日期:1996-10-01 00:00:00
abstract::Immunohistochemical study of smooth muscle myosin, a protein distinct from skeletal, cardiac, or nonmyogenous myosins in paraffin-embedded normal tissues and benign and malignant mesenchymal tumors revealed its strong expression in normal smooth muscle, capillary endothelium, and pericytes. All benign smooth muscle tu...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
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更新日期:1983-11-01 00:00:00
abstract::In order to further clarify the histologic criteria and prognostic measurement of appendiceal adenoma and well differentiated adenocarcinoma, lectin binding activity in 31 cases of appendiceal mucocele (6 hyperplasias, 16 adenomas and 9 adenocarcinomas) was studied using an immunoperoxidase staining method. An additio...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1093/ajcp/89.4.481
更新日期:1988-04-01 00:00:00
abstract::The availability of automated anti-Xa heparin assays provides the opportunity to manage patient unfractionated heparin levels directly, rather than by the activated partial thromboplastin time. Because critically ill patients can acquire an antithrombin deficiency, we compared the performance of 3 anti-Xa heparin assa...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1309/8E3U7RXEPXNP27R7
更新日期:2006-09-01 00:00:00
abstract::A T-cell malignancy developed in a 64-year-old man with recurrent B-cell lymphoma after one and a half years of remission. Immunophenotypic and DNA analyses confirmed clonality and cell lineage of both lymphoid malignancies. Sequential development of B- and T-cell malignancies in this patient may be an example of bicl...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1093/ajcp/92.3.362
更新日期:1989-09-01 00:00:00
abstract::Cytologic features of the cell-stroma interface are useful in distinguishing between monomorphic adenomas of the basal cell type and adenoid cystic carcinoma. In basal cell adenomas, the collagenous stroma interdigitates with adjacent cells, whereas in adenoid cystic carcinoma, the two are separated by a sharp smooth ...
journal_title:American journal of clinical pathology
pub_type: 杂志文章,评审
doi:10.1093/ajcp/106.1.35
更新日期:1996-07-01 00:00:00
abstract::Carumonam, a new monobactam, was found to have an anti-microbial spectrum similar to aztreonam. Its spectrum includes Enterobacteriaceae, Haemophilus influenzae, pathogenic Neisseria species, Pseudomonas aeruginosa, and some streptococci. Staphylococcus species, enterococci, and many other nonenteric gram-negative bac...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1093/ajcp/86.5.608
更新日期:1986-11-01 00:00:00
abstract::Human papillomaviruses (HPVs) are associated with benign and malignant neoplasms of the cervix. One of the criteria for their etiologic role requires an assessment of whether virtually all or only a small fraction of lesions contain viral genomes. DNA preparations from colposcopically directed punch biopsies of cervic...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1093/ajcp/95.5.638
更新日期:1991-05-01 00:00:00
abstract::Breast cancer in men is a rare condition affecting only 1,000 men each year in the United States. Hormonal, genetic, and perhaps environmental factors appear to be important in development of the disease. Clinically, breast cancer in men resembles that seen in woman. Histologically the diseases are indistinguishable, ...
journal_title:American journal of clinical pathology
pub_type: 杂志文章,评审
doi:
更新日期:1994-10-01 00:00:00
abstract::Suspensions of lymphoid cells from tissues have been used for the determination of the quantitative relationship between the T and B cell populations. The distribution of the lymphocytes within a given tissue, however, cannot be demonstrated once such a suspension has been prepared. Various methods of characterizing l...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1093/ajcp/67.3.230
更新日期:1977-03-01 00:00:00
abstract::Squamous cell carcinoma (SCC) is by far the most common malignancy of the upper aerodigestive tract. Most conventional-type SCCs do not present the surgical pathologist with diagnostic difficulty. Certain variants, however, can histologically mimic benign and other malignant diseases. In such cases, correct diagnosis ...
journal_title:American journal of clinical pathology
pub_type: 杂志文章,评审
doi:10.1309/CR5JXUY3J2YGTC1D
更新日期:2005-12-01 00:00:00
abstract::The authors report the clinicopathologic findings in four cases of adult women with rhabdomyosarcomas that originated in the endometrium or cervix, or both. All tumors were pure sarcomas and not components of carcinosarcomas or malignant mixed mesodermal tumors. In two patients, the tumors were typical botryoid embryo...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1093/ajcp/70.2.217
更新日期:1978-08-01 00:00:00
abstract:OBJECTIVES:To evaluate the impact of implementing the dual interpretation of atypical squamous cells, cannot exclude high-grade squamous intraepithelial lesion (ASC-H) and low-grade squamous intraepithelial lesion (LSIL) after the Bethesda System 2014 and to compare it with other indeterminate interpretations. METHODS...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1093/ajcp/aqaa069
更新日期:2020-09-08 00:00:00
abstract::Immunoperoxidase strains for prostate-specific antigen (PSA), prostatic acid phosphatase (PAcP), epithelial membrane antigen (EMA), and cytokeratins (MAK 6 and CK-KES) were performed on 1 case of squamous cell carcinoma of the prostate and on 13 cases of squamous metaplasia of prostatic epithelium in an effort to demo...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1093/ajcp/90.5.597
更新日期:1988-11-01 00:00:00
abstract::Screening for serum lipid disorders is recommended by numerous specialty societies to identify patients at risk for coronary heart disease (CHD). The best screening tests will identify patients at highest risk for CHD who would benefit from intervention. This report discusses an appropriate test panel to use as the in...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1093/ajcp/103.4.380
更新日期:1995-04-01 00:00:00
abstract::We studied 68 sporadic colorectal carcinomas (CRCs) with medullary features (MCRCs) and compared them with 35 poorly differentiated purely "enteric" CRCs (ECRCs) and 15 purely neuroendocrine carcinomas (NECs) of grades II and III, all in patients lacking a family history of CRC. Potential clinicopathologic differences...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:
更新日期:2005-01-01 00:00:00
abstract:OBJECTIVES:The coronavirus disease 2019 pandemic has halted in-person medical student education in many large academic centers, including the University of Washington. We identified a unique opportunity to bring comprehensive and targeted anatomic pathology training to large numbers of medical students who would not re...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1093/ajcp/aqaa154
更新日期:2020-10-13 00:00:00
abstract:OBJECTIVES:Bone marrows (BMs) with incidentally identified, small monotypic B-cell populations (MBPs) were evaluated. METHODS:BM aspirates with MBPs representing 5% or less of total events by flow cytometry, less than 5.0 × 10(9)/L B cells in blood, and no history of lymphoma or MBP with a different phenotype from pri...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1309/AJCPD5TOBDJU4GKO
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVES:To calculate the incidence of nondiagnostic (ND) colorectal (CR) polyp cases in which deeper tissue sectioning rendered new diagnostic information--particularly adenomas--in 2 laboratories staffed by the same pathologists. METHODS:After initial diagnosis, 100 ND CR polyps from each laboratory were reexamine...
journal_title:American journal of clinical pathology
pub_type: 杂志文章
doi:10.1309/AJCPPXU66QZAZNYN
更新日期:2013-08-01 00:00:00