Abstract：
:Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial myopathy commonly caused by deleterious changes in the mitochondrial DNA (mtDNA). We describe a 45-year-old man who was referred to us for investigation of progressive ptosis. We performed a multiplex ligation-dependent probe amplification (MLPA) assay of mtDNA from muscle tissue and peripheral blood leukocytes, and followed up with gap-polymerase chain reaction (PCR) and direct sequence analysis. Results showed a deletion of a 4,407 bp segment in the mtDNA region, ranging from nucleotide position 8,577 in the MT-ATP6 gene to nucleotide position 12,983 in the MT-ND5 gene. To the best of our knowledge, this is the first report of a CPEO patient with a large novel deletion of mtDNA genetically confirmed by MLPA assay. MLPA can be a feasible platform for clinical laboratories to detect large deletion mutations in the mtDNA for suspected cases.
journal_name
Ann Clin Lab Scijournal_title
Annals of clinical and laboratory scienceauthors
Kwon MJ,Ki CS,Kim JY,Lee ST,Kim JW,Kang SYsubject
Has Abstractpub_date
2011-10-01 00:00:00pages
385-9issue
4eissn
0091-7370issn
1550-8080pii
41/4/385journal_volume
41pub_type
杂志文章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
abstract：:Tricho-rhino-phalangeal syndrome type I (TRPSI) is a rare autosomal dominant hereditary disorder characterized by sparse hair, bulbous nose, long philtrum, thin upper lip, and skeletal abnormalities including cone-shaped epiphyses, shortening of the phalanges, and short stature. TRPSI is caused by mutations in the TRP...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2012-07-01 00:00:00
abstract：:In the past, necrotizing vasculitis has been considered to be one of the dominant intrarenal vascular abnormalities in systemic lupus erythematosus (SLE). To test the validity of this statement, 70 consecutive renal biopsies from patients with SLE were reviewed. Light microscopy (LM) and immunofluorescence (IF) studie...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1990-03-01 00:00:00
abstract：:The fragile histidine triad (FHIT) gene encompasses the most common human fragile site, FRA3B at 3p14.2, a region that is involved in homozygous deletions in a variety of human tumors. FHIT is considered to be a tumor suppressor gene that is frequently inactivated in various types of cancer. To study the role of the F...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2010-07-01 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：:Screening programs using determinations of serum thyroxine have demonstrated that congenital hypothyroidism occurs in one in 4,000 live births in North America. More than 90 percent of affected infants have primary hypothyroidism with elevated plasma thyrotropin (TSH) levels. Since the feasibility of newborn screening...
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：:Patent ductus arteriosus (PDA) is highly prevalent in pre-term neonates (PTN) and has been recognized as a neonatal co-morbidity. The purpose of this study was to determine if levels of brain (or B-type) natriuretic peptide (BNP), a peptide secreted by ventricular myocytes in response to volume or pressure overload, c...
journal_title：Annals of clinical and laboratory science
pub_type： 临床试验,杂志文章
doi：
更新日期：2011-04-01 00:00:00
abstract：:Pretreatment with heat decreases mortality and acute lung injury in the rat septic shock model, presumably by the production of heat shock proteins (HSP). However, endotoxin, a severe cell stresser, has not been shown to induce HSP 70. We investigated the effects of severe endotoxemia on the expression of specific pro...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2000-01-01 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：:In a prospective study, M4RT medium was compared to the traditional M4 medium to transport cervical swab specimens for Neisseria gonorrhoeae/Chlamydia trachomatis (NG/CT) PCR testing using the Roche COBAS Amplicor. Two cervical swab samples were collected from 270 consecutive patients screened for NG/CT in a satellite...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2002-01-01 00:00:00
abstract：:Numerous drugs and chemicals affect the function of human blood platelets. The mechanism of action of some medications is partly understood. Aspirin is the most frequently involved drug. It appears to interfere with the platelet release reaction by acetylation of a platelet membrane protein which may be involved in th...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：1977-01-01 00:00:00
abstract：AIMS:To explore the association between platelet distribution width (PDW) and stroke in atrial fibrillation (AF) patients. METHODS:This study included 150 AF patients who were divided into stroke and non-stroke groups. Multivariate logistic regression analysis and area under the receiver operating characteristic curve...
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：: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：:Recently, the current authors reported the presence in normotensive male and female urines of reproducibly measurable levels of naturally occurring substances in partially purified extracts of urine with inhibitory activity like glycyrrhetic acid (GA) towards both 11 beta-hydroxysteroid dehydrogenase (11 beta-OHSD) an...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1993-11-01 00:00:00
abstract：:The purpose of this study was to assess whether the LG Anti-HIV 1/2 Plus ELISA (LG Life Sciences, Seoul, Korea), a new third-generation enzyme-linked immunosorbent assay for the detection of HIV infection, has improved sensitivity and specificity in comparison to the other licensed third-generation assays. The sensiti...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2006-01-01 00:00:00
abstract：:This study was designed to explore the association between the G protein-coupled receptor 109A (GPR109A) expression in peripheral blood leukocytes (PBLs) and type 2 diabetes (T2DM) and to discuss the regulation of inflammatory factors by GPR109A signaling. GPR109A signaling has been confirmed to be associated with hom...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2014-10-01 00:00:00
abstract：:Prospective HLA-DR matching has been shown to enhance renal graft survival. It has also been demonstrated that the major stimuli in the one-way mixed lymphocyte culture reaction (MLR) are the DR rather than DQ class II histocompatibility antigens. A two antigen DR match between the potential recipient and donor is usu...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1987-09-01 00:00:00
abstract：:Toll-like receptors (TLR) activation is thought to modulate the macrophage cholesterol efflux and contribute to the atherosclerosis progression; however, the precise pathophysiological mechanism remains unclear. We investigated the effects of TLR2- and TLR4-activation on the expression of the ATP-binding cassette (ABC...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2017-08-01 00:00:00
abstract：:The case is described of a low birth weight infant who developed severe neutropenia, thrombocytopenia and monocytosis in the course of staphylococcal septicemia. Light microscopy examination of the blood revealed bacteria inside the monocytes. On electron microscopy, the monocytes were degranulated and distorted by th...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1982-11-01 00:00:00
abstract：:Nitric oxide is generated from L-arginine by the action of nitric oxide synthase, an enzyme encoded by three different genes. Nitric oxide is involved in an expanding number of phenomena. This involvement may be documented by direct detection using spectrophotometric or electrochemical methods or more often by indirec...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：1996-11-01 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：:The Access(®) soluble transferrin receptor (sTfR) is considered the world's first automated chemiluminescence immunoassay. In this study, the diagnostic utility of this and other tests for serum iron were evaluated by studying their interrelationships with inflammation. A total of 367 patients with anemia (iron defici...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2015-07-01 00:00:00
abstract：:Metastatic tumors to the breast from an extramammary site are rare entities and may present diagnostic difficulties for the surgical pathologist because of frequent histological similarities to primary neoplasms in this location. A case is reported of medullary thyroid carcinoma metastatic to the breast in a 28-year-o...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1994-09-01 00:00:00
abstract：:Iron accumulation, especially that of free oxidized ferrous iron, has been shown to induce tissue oxidative damage and contribute to brain aging and the development of neurodegenerative disease. Here we examine whether sex and advanced age affect the expression of iron-related molecules that participate in regulating ...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2012-04-01 00:00:00
abstract：:Reactive amyloid deposits consist of amyloid A (AA) proteins, the degradation products of serum amyloid A (SAA). Since the most common species of AA is the amino terminal portion produced by cleavage between residues 76 and 77 of SAA (AA76), the presence of AA76 in tissues could be a consequence of AA amyloid depositi...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2016-04-01 00:00:00
abstract：:The bioassay system from American Diagnostic for amikacin was compared to the same company's radioimmunoassay (RIA) technique used in this hospital. The bioassay is performed by adding serum from a patient to wells cut in agar which have been seeded with a susceptible fast growing microorganism (Enterobacter). After i...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1981-09-01 00:00:00
abstract：:Gain-of-function mutations of the CKIT gene have been reported to specifically occur in core-binding factor (CBF) acute myeloid leukemia (AML) with a poor prognostic implication. Here we report a case of therapy-related AML with t(9;11)(p22;q23) who had CKIT mutation. A 48-year-old woman with breast cancer received pa...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2011-04-01 00:00:00
abstract：:Within the next 20-25 years, 20% of the U.S. population is expected to be 65 years old or older. Unless significant changes are made (ie, increased research, improved treatment, and promotion of health and disease prevention), medical costs will continue to rise but with fewer citizens to finance them. However, this n...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：2000-01-01 00:00:00
abstract：:Very recently there have been sporadic reports of polymyositis in patients who are positive for human immunodeficiency virus (HIV). The cause of this condition has not been documented. Recent evidence has been presented which indicates that the Coxsackie B virus may be a causative factor. Presentation is made of a pat...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1994-05-01 00:00:00
abstract：:Pseudotumor cerebri (PTC) is characterized by increased intracranial pressure and papilledema without a mass lesion. PTC predominantly affects obese women. Currently, the pathogenesis of PTC is obscure. Since cytoskeletal abnormalities are found in many neurodegenerative diseases, we hypothesized that some cytoskeleta...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2006-04-01 00:00:00
