Abstract：
:We report findings from an autopsy of a 45-year-old woman with the rare lysosomal storage disease mucolipidosis type III α/β. Her disease manifested most notably as multiple bone and cartilage problems with tracheal and bronchial malacia. Principal autopsy findings included gross abnormalities in bone and cartilage with corresponding microscopic cytoplasmic lysosomal granules. These cytoplasmic granules were also seen in histologic preparations of the brain, myocardium, heart valves, and fibroblasts of the liver and skin by light and electron microscopy. By electron microscopy there were scattered, diffuse vesicular cytoplasmic granules in neurons and glia and an increase in lysosomal structures with fine electron lucent granularity in the above tissue types. Our findings help elaborate current understanding of this disease and differentiate it from the mucopolysaccharidoses and related disorders. To our knowledge, this is the first report to document pathologic findings in a patient with mucolipidosis type III α/β by autopsy.
journal_name
Arch Pathol Lab Medjournal_title
Archives of pathology & laboratory medicineauthors
Kerr DA,Memoli VA,Cathey SS,Harris BTdoi
10.1043/2010-0236-CR.1subject
Has Abstractpub_date
2011-04-01 00:00:00pages
503-10issue
4eissn
0003-9985issn
1543-2165pii
10.1043/2010-0236-CR.1journal_volume
135pub_type
杂志文章abstract：:Sclerosing angiomatoid nodular transformation (SANT) is a recently recognized nonneoplastic vascular lesion of the spleen with fewer than 30 cases described. Microscopically, SANT consists of multiple well-circumscribed vascular/angiomatoid nodules showing plump endothelial cell and extravasated erythrocytes. The nodu...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：10.1043/1543-2165(2007)131[974:SANTOT]2.0.CO;2
更新日期：2007-06-01 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：CONTEXT:Antibody-mediated humoral rejection in kidney and heart allografts is well recognized and is often associated with poor outcome. C4d deposition in allograft biopsy specimens occurs at sites of antibody-mediated complement activation and has become one of the histopathologic criteria for diagnosis of humoral rej...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：10.1043/1543-2165(2006)130[1489:EOCSIL]2.0.CO;2
更新日期：2006-10-01 00:00:00
abstract：:The morphologic and biochemical characterization of cytocontractile and cytoskeletal elements in a given cell or tissue appears more and more as a useful tool in the study of differentiation phenomena, the origin of various human tumors (including metastases), and the degree of cellular adaptation during physiologic a...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章,评审
doi：
更新日期：1983-12-01 00:00:00
abstract：:A large mucinous cystic neoplasm of the pancreas was found that showed a remarkably high carcinoembryonic antigen (CEA) level in cyst content. Staining for CEA was also detected in the lining epithelium. These findings indicate that columnar epithelial cells secrete CEA that accumulates in the cyst. We suggest that a ...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：
更新日期：1985-04-01 00:00:00
abstract：:Campylobacter fetus is a fastidious, curved, Gram-negative bacillus that has been increasingly associated with human disease. To our knowledge, we are reporting the first documented case of C fetus sepsis associated with an aortic mycotic aneurysm. Typical of previously reported cases of infections caused by this orga...
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：CONTEXT.—:Automated analyzers have advanced the field of clinical hematology, mandating updated complete blood count (CBC) reference intervals (RIs) to be clinically useful. Contemporary newborn CBC RI publications are mostly retrospective, which some authors have cited as one of their cardinal limitations and recommen...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：10.5858/arpa.2019-0444-OA
更新日期：2020-04-16 00:00:00
abstract：:Pathologists' advocacy plays a central role in the establishment of continuously improving patient care quality and patient safety, and in the maintenance and progress of pathology as a profession. Pathology advocacy's primary goal is the betterment of patient safety and quality medical care; however, payment is a nec...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：10.5858/arpa.2017-0105-SA
更新日期：2017-07-01 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：:Distinctive morphological features in both the marrow infiltrate and the kidney were seen in a 52-year-old woman with kappa light chain-producing plasma cell myeloma, diagnosed on the basis of multiple osteolytic lesions, the presence of atypical plasma cells in the bone marrow, and monoclonal immunoglobulin productio...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：
更新日期：1987-02-01 00:00:00
abstract：:The costs of producing quality medical care and the proper allocation of resources to assure quality are major contemporary concerns. Minimalists attempt to improve quality and lower costs through the application of the theory, "less is more." Bureaucracies make the same attempt through the denial of payments for "unn...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：
更新日期：1990-11-01 00:00:00
abstract：:We report a case of an intraocular inflammatory myofibroblastic tumor nearly filling the vitreous cavity of the eye of a 50-year-old man. The tumor was composed of a mixture of spindle cells and mixed inflammatory elements, including numerous plasma cells. The differential diagnosis included inflammatory pseudotumor a...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：10.1043/1543-2165(2004)128
更新日期：2004-01-01 00:00:00
abstract：:Inherited mutations in the genes BRCA1 and BRCA2 are associated with a significantly increased risk of breast cancer, particularly before the age of 50 years, as well as an increased risk of ovarian cancer. Patients with early-onset breast cancer or ovarian cancer at any age with a family history of either disease are...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章,评审
doi：10.1043/0003-9985(1999)123<1023:LDOHST>2.0.CO;2
更新日期：1999-11-01 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：:The prune belly syndrome is a well-recognized entity consisting of deficient abdominal musculature, cryptorchid testes, and urinary tract abnormalities most consistent with an obstructive phenomenon. However, an obstructive lesion has not been consistently identified in previously reported cases. Retrospective review ...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：
更新日期：1987-02-01 00:00:00
abstract：:Basal cell carcinoma (BCC) is the most common form of skin cancer, accounting for 65% to 75% of all malignant skin tumors. Metastic BCC is very rare--only 109 documented cases have been reported to date. The mean time of survival after metastasis has been reported to be ten months. No effective therapeutic modality is...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：
更新日期：1977-06-01 00:00:00
abstract：:Bloom syndrome is a rare autosomal recessive disorder characterized by normally proportioned but strikingly small body size, a characteristic facies and photosensitive facial skin lesion, immunodeficiency, and a marked predisposition to development of a variety of cancers. We describe here, we believe for the first ti...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：10.1043/0003-9985(1999)123<0346:SHNOTL>2.0.CO;2
更新日期：1999-04-01 00:00:00
abstract：:Patients with xeroderma pigmentosum (XP) experience cutaneous and ocular abnormalities, including neoplasia of epithelial and melanocytic cellular origin. Black patients with XP display more severe ocular abnormalities and neoplasia. We report the clinicopathologic findings in two black young children with XP who pres...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章,评审
doi：
更新日期：1991-09-01 00:00:00
abstract：:We studied the use of stat (ie, statim--as soon as possible) laboratory tests at a university teaching hospital. For the 20 most frequently performed tests, 35.7% of the determinations were performed on a stat basis. The frequency with which a test was ordered on a stat basis ranged from 6.0% (for ESR) to 61.5% (amyla...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：
更新日期：1982-12-01 00:00:00
abstract：:Since carcinomas of the colon or rectum are associated with blood loss, we wondered if complete blood count data were suggestive of iron deficiency in cases of colorectal carcinoma. The mean corpuscular volume and especially the red blood cell distribution width are thought to be more sensitive to early iron deficienc...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：
更新日期：1992-03-01 00:00:00
abstract：CONTEXT.—:There is an ongoing perception that the pathology job market is poor, which may be discouraging medical students from pursuing the specialty. Academic pathologists believe that jobs are available but relocation may be necessary. OBJECTIVE.—:To identify trends regarding the geographic relocation of pathologis...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：10.5858/arpa.2019-0150-CP
更新日期：2020-04-01 00:00:00
abstract：:We report a case of a malignant peripheral nerve sheath tumor arising in the distal femur of a 28-year-old man who had no stigmata of von Recklinghausen's disease. Roentgenograms and computed tomographic scans of the distal femur showed a single lytic intraosseous lesion with minimal soft tissue extension. Light micro...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章,评审
doi：
更新日期：1995-04-01 00:00:00
abstract：:A 47-year-old white man presented for evaluation of a complex right renal mass. He had a history of human immunodeficiency virus. Cervical lymph node biopsy had revealed small lymphocytic lymphoma. Computed tomographic scan disclosed diffuse mesenteric and retroperitoneal adenopathy consistent with chronic lymphocytic...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：10.1043/1543-2165(2005)129<111:SLLIAE>2.0.CO;2
更新日期：2005-01-01 00:00:00
abstract：:We report a case of spindle-cell adenosquamous carcinoma of the esophagus. This represents the third case in the worldwide literature in which an esophageal polypoid tumor contains adenosquamous carcinoma rather than the usual squamous cell carcinoma in addition to a prominent spindle-cell element. The spindle-cell co...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章,评审
doi：
更新日期：1993-05-01 00:00:00
abstract：CONTEXT.—:Mutations within the same signature transduction pathway are redundant and, therefore, most are mutually exclusive. Laboratory errors, however, may introduce unexpected coexisting mutations. OBJECTIVE.—:To validate coexisting mutations within epidermal growth factor receptor (EGFR), mitogen-activated protein...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：10.5858/arpa.2017-0495-OA
更新日期：2019-02-01 00:00:00
abstract：CONTEXT:The pathogenesis of appendicitis remains poorly understood. Despite new diagnostic techniques, appendices removed from patients with suspected appendicitis often appear histologically normal on conventional examination. There is increasing evidence of involvement of the enteric nervous system in immune regulati...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：10.1043/0003-9985(2003)127<0573:NHIAAI>2.0.CO;2
更新日期：2003-05-01 00:00:00
abstract：:When present, chromosome abnormalities can contribute useful information for tumor diagnosis and prognosis. However, the existence of diploid tumor cells indicates that such abnormalities are not necessary in tumors. Their time of appearance, sometimes preceding or predisposing to tumor and sometimes occurring late in...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：
更新日期：1984-01-01 00:00:00
abstract：CONTEXT:Automated cell counters use alerts (flags) to indicate which differential white blood cell counts can be released directly from the instrument and which samples require labor-intensive slide reviews. The thresholds at which many of these flags are triggered can be adjusted by individual laboratories. Many users...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：10.1043/2009-0531-OA.1
更新日期：2010-10-01 00:00:00
abstract：OBJECTIVE:To determine by review of their histogenesis whether papillomas of the nose and paranasal sinuses are three distinct entities or, as has been favored in the literature, three variations of a single entity. METHODS AND PATIENTS:We examined biopsy sections from 191 patients with sinonasal papillomas. Biopsy se...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：
更新日期：1995-09-01 00:00:00
abstract：CONTEXT.—:Related to the advances in prenatal diagnosis and the emergence of medically challenging situations, there has been an increased interest in conducting a pathologic study of first-trimester abortion products. OBJECTIVE.—:To evaluate measurements across a large group of first-trimester spontaneous abortion sp...
journal_title：Archives of pathology & laboratory medicine
pub_type： 杂志文章
doi：10.5858/arpa.2018-0181-OA
更新日期：2020-02-01 00:00:00
