Abstract:
:We present an adult autopsy case of primary hyperoxaluria type 1. Diagnosis was established with skin biopsy and subsequent genetic analysis one month prior to death. At autopsy, calcium oxalate crystals refringent to polarized light were found systemically. Interestingly, however, calcium oxalate crystals were not identified in the bone. Additionally, we have included a review of the literature for previous autopsy cases, presentations, diagnosis, complications, and treatment of this rare genetic systemic process.
journal_name
Ann Clin Lab Scijournal_title
Annals of clinical and laboratory scienceauthors
Falk N,Castillo B,Gupta A,McKelvy B,Bhattacharjee M,Papasozomenos Ssubject
Has Abstractpub_date
2013-07-01 00:00:00pages
328-31issue
3eissn
0091-7370issn
1550-8080pii
43/3/328journal_volume
43pub_type
杂志文章abstract::Increased lipid peroxidation (LP) occurs in the presence of various transition, metal ions, including copper and iron, as well as various heme moieties. In addition, irradiation significantly increases LP. The degree of LP, as determined by the liquid chromatographic measurement of plasma malondialdehyde (MDA), can be...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1994-01-01 00:00:00
abstract::A retrospective study of acquired renal lesions in 42 renal transplants in children revealed a variety of histologic lesions. Although acute and chronic rejection changes were the most frequent, a number of metabolic, infectious, vascular, and other lesions were encountered. Renal biopsy allows rapid diagnosis of thes...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1981-07-01 00:00:00
abstract::The classification of ovarian tumors presents a difficult problem because of the great variety of tumor types that can occur. The complex structure of the normal ovary and the diversity of cell types present at different stages of development contribute to this difficulty. Developmental and ultrastructural studies hav...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1979-05-01 00:00:00
abstract::Secretion of nickel into unstimulated and stimulated saliva of rabbits was studied after a single intraperitoneal injection of nickel chloride labelled with 63Ni. Maximum 63Ni in unstimulated saliva was obtained in specimens collected one hr after maximum serum-63Ni was reached and two hrs after the nickel administrat...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1979-11-01 00:00:00
abstract::In vitro determination of specific IgE antibodies in serum is the most frequently used method, besides the skin test, for diagnosing allergies. Standardized and reproducible assays of specific IgE antibodies contribute to the quality of diagnosis and treatment of allergic disease. This study compared the results and p...
journal_title:Annals of clinical and laboratory science
pub_type: 临床试验,杂志文章
doi:
更新日期:2005-07-01 00:00:00
abstract::Severe spermatogenic alterations occur in association with diabetic manifestations in the nonobese diabetic (NOD) mouse. A study was undertaken to determine whether or not administration of insulin during initial appearance of diabetic changes could inhibit the interference with spermatogenesis. Male NOD mice injected...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1995-05-01 00:00:00
abstract::Desmoplastic small round cell tumors (DSRCT) are highly aggressive tumors typically involving the serosal surfaces of the peritoneum. Patients often present with abdominal pain, an abdominal mass, ascites or signs of intestinal obstruction. Cytogenetic and molecular studies have identified a characteristic t(11;22)(p1...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1999-01-01 00:00:00
abstract::Testicular changes preceding and accompanying the initiation of spermatogenesis are reviewed. The complex cellular changes occurring in the developing testis are found to be particularly well defined with the use of electron microscopy. The findings suggest that electron microscopic examination may be useful in the ev...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章,评审
doi:
更新日期:1975-01-01 00:00:00
abstract::The histopathologic findings in lung tissue are reported from five cases of Philadelphia Legionnaire's Disease and the results are compared to pneumonias caused by other microbial and chemical agents. Histopathology of lung tissue was similar in all cases, despite the fact that death occurred between the fourth and 14...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1979-09-01 00:00:00
abstract::A case of a 40 year-old woman with Hodgkin's disease who developed acute non-lymphocytic leukemia (ANLL) accompanied by several abnormal chromosomal findings is illustrated. A very unusual coincidental finding was the coexistence of Hodgkin's lymphoma and ANLL in the same lymph node. ...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1985-01-01 00:00:00
abstract::The possible pathologic consequences of the presence of circulating immune complexes in certain disease states has caused considerable attention to be given to the development of laboratory procedures capable of quantitatively measuring the presence of immune complexes in serum. Many assays are available which utilize...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章,评审
doi:
更新日期:1981-05-01 00:00:00
abstract::Alterations in ion transport have been implicated in the pathogenesis of several disease states. Methods of studying ion transport, however, are rather tedious, time consuming and not well defined in terms of kinetics and reproducibility. This paper describes a rapid, simple method of examining ion transport in intact...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1981-03-01 00:00:00
abstract::The aim of this study was to evaluate the influence of gender differences on triglyceride (TG) response after a fatty meal in clinically defined heterozygous (h) patients with familial hypercholesterolemia (FH). Nineteen hFH men were age-matched with an equal number of premenopausal women. Plasma TG was measured befor...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:2007-10-01 00:00:00
abstract::Four commercial assays for the screening of cannabinoids in urine were compared. Urine specimens from 93 selected subjects were run by fluorescence polarization immunoassay on the Abbott TDx; by enzyme multiplied immunoassay with two Syva EMIT assays; and by thin-layer chromatography with the TOXI-LAB system (Marion L...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1989-03-01 00:00:00
abstract:BACKGROUND:Various assays for detecting high-risk human papillomavirus (HR HPV) have been introduced recently, including the Abbott RealTime High-Risk HPV assay. We sought to compare the performance of Abbott PCR to Hybrid Capture 2 for the detection of HR HPV. METHODS:A total of 941 cervical swab specimens were obtai...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:2016-09-01 00:00:00
abstract::In vitro activity of erythrocyte glucose-6-phosphate dehydrogenase (G-6-PD) does not always correlate with in vivo hemolytic manifestations. Many of these non-correlations are reviewed and can now be explained on the basis of altered substrate affinity and/or altered inhibition by intracellular metabolites. These alte...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1977-07-01 00:00:00
abstract:CONTEXT:Myotonic dystrophies (DMs) are a group of autosomal dominant neuromuscular disorders which are caused by large CTG/CCTG-repeat expansions in untranslated regions of DMPK/ZNF9 gene. The "phenotypic overlap" in DMs creates complication in distinguishing patients with DM1 from patients with DM2 and underscores the...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:2015-10-01 00:00:00
abstract:OBJECTIVE:This study aims to investigate the effect of different concentrations of docosahexaenoic acid (DHA) on proliferation and apoptosis in HepG2 cell lines, and to research the possible molecular mechanisms. METHODS:DHA concentration was 0 g/mL in the negative control group, and 15, 30, 45, 60 and 75 ug/mL, respe...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:2019-01-01 00:00:00
abstract::Hematological malignancies exhibit many clinical presentations, from ambiguous systemic symptoms to rapid multi-organ failure. By identifying common clinical, laboratory, and autopsy findings in patients with a hematological malignancy, living patients may be diagnosed and treated earlier. We retrospectively reviewed ...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:2015-10-01 00:00:00
abstract::A variety of vaginal and cervical abnormalities have been encountered in the offspring of women who have taken stilbestrol or chemically related nonsteroidal estrogens during pregnancy. Cervical erosion has been noted most often, but vaginal adenosis has been proven by biopsy in over 30 percent, and transverse vaginal...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1974-07-01 00:00:00
abstract::The purposes of this work are to: review the biological activities of Interleukin-2 (IL-2); evaluate the reported therapeutic benefits and toxicity of IL-2/lymphokine activated killer (LAK) cells; and project the role of IL-2/LAK cells in cancer therapy. Interleukin-2 is a glycoprotein lymphokine (mw 15,000) produced ...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章,评审
doi:
更新日期:1989-01-01 00:00:00
abstract::Erythrocytosis was induced in Fischer rats by intrarenal (ir) injection of nickel subsulfide (Ni3S2) in dosages ranging from 0.6 to 10 mg per rat. Measurements of blood packed cell volume (PCV) became increased by one month after ir injection of Ni3S2; reached maximum values at approximately two months; and gradually ...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1977-01-01 00:00:00
abstract::Glycosylated hemoglobin (HbA1c) levels on blood obtained from 28 cadavers were compared with that of healthy volunteers and patients with diabetes mellitus. Levels of HbA1c did not correlate with post-mortem intervals of four to 36 hours, suggesting that HbA1c is stable under these conditions. All deceased with a hist...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1983-09-01 00:00:00
abstract::The objectives of this prospective, cross-sectional study were to characterize blood donors in an academic-based hospital donor center, to determine whether physicians donate, and to elucidate the donation impetus. A confidential survey was issued to presenting, potential donors over 200 weekdays. Three questions were...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:2009-10-01 00:00:00
abstract::In the course of a clinical comparison involving 204 parallel total creatine kinase (CK), creatine kinase-MB isoenzyme (CK-MB), and cardiac troponin I (cTnI) measurements, 12 patients were identified in whom cTnI was elevated while total CK was normal, as well as 2 patients in whom CK-MB was elevated while cTnI was no...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:2000-04-01 00:00:00
abstract::Mucoepidermoid carcinoma of the lung is exceedingly rare. Our case involves a 58-year-old male who presented with shortness of breath, dysphagia, and weight loss. He denied ever smoking. Chest x-ray revealed trapped lung, and CT demonstrated a right bronchial mass. Diagnosis of lung carcinoma was made by bronchoscopic...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章,评审
doi:
更新日期:2015-04-01 00:00:00
abstract::This study assessed the progression of renal damage in obese Zucker rats in response to deoxycorticosterone acetate (DOCA)-salt-induced hypertension. Renal damage was evaluated by light microscopy and urine analysis at weekly intervals during the developmental phase of DOCA-salt hypertension and once during the platea...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:2005-01-01 00:00:00
abstract::Lipoprotein lipids and apo B from 254 male patients were compared with bilirubin as a risk factor for coronary artery disease (CAD). Patients were classified as: 1, Normal, all vessels < 20% stenosis, n = 83; or 2, CAD, at least one vessel > 70%, n = 171. Diagnostic accuracy was assessed by receiver operator character...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1997-05-01 00:00:00
abstract::A refined technique is described for the anatomical study of the heart and coronary arteries after perfusion with agar-barium sulfate contrast medium. The method includes dissection and isolation of the perfused coronary arteries with sequential cross-sectioning and radiography of intact and cross-sectioned vessels. T...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1986-01-01 00:00:00
abstract::Qualitative urinary screening procedures were converted to quantitative methods for urinary cystine and homocystine based on the reactions between these amino acids and cyanide-nitroprusside reagents. Cystine and homocystine are quantified by the measurement of absorbances at 521 and 524 nm, respectively. Cyanide-nitr...
journal_title:Annals of clinical and laboratory science
pub_type: 杂志文章
doi:
更新日期:1992-01-01 00:00:00