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 need for these patients to undergo genetic test; therefore, detection and accurate sizing of the CTG/CCTG-repeat expansions are necessary. Templates with long CTG/CCTG tandem repeats are difficult to amplify by convention PCR. AIMS:The aim of our study was to develop an efficient, economic amplification method which based on combination of primer design, modified annealing, and extension conditions in PCR amplification. SETTINGS AND DESIGN:We detected and analyzed the CTG-repeat expansions in patients having clinical, electrophysiological, and muscle pathology features indicative of DMs by optimization PCR. If no CTG-repeat expansions were detected, we subsequently analyzed the CCTG-repeat expansions in the remaining patients. RESULTS:42 participants included 25 DMs patients and 17 family members. 22 patients showed CTG-repeat expansions, the CTG-repeat ranged from 53 to 683 and the average was 535; 3 patients showed CCTG-repeat expansions, the CCTG-repeat ranged from 400 to 450 and the average was 416. CONCLUSIONS:Molecular genetic tests are essential for DMs diagnosis; Optimization PCR under the optimal conditions of primer design, modified annealing, and extension conditions can be used for efficient PCR in DMs diagnosis; Optimization PCR can greatly improve the positive detection of DMs, provide an economic, accurate, and rapid method for routine diagnostic use.
journal_name
Ann Clin Lab Scijournal_title
Annals of clinical and laboratory scienceauthors
Meng YX,Shen HR,Zhao Z,Bing Q,Li N,Hu Jsubject
Has Abstractpub_date
2015-10-01 00:00:00pages
502-7issue
5eissn
0091-7370issn
1550-8080pii
45/5/502journal_volume
45pub_type
杂志文章abstract：:The term "vitamin D" refers to two chemical compounds - ergosterol, or vitamin D2, and cholecalciferol, or vitamin D3. Active vitamin D3 is correctly regarded as a neurohormone due to its pleiotropic biological activities. Although the relation between vitamin D and calcium-phosphorus metabolism has never been discuss...
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：:Human amniotic-derived cells (hAMCs) have recently raised interest for their differentiation capability and immunomodulatory properties. To assess the feasibility of hAMCs therapeutic treatment during fetal development, we explored the localization of cells derived from the human amniotic membrane in rat organs after ...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2015-04-01 00:00:00
abstract：:We report 2 patients who presented with vasomotor symptoms and severe thrombocytopenia following rattlesnake bites. These symptoms persisted in spite of treatment with antivenin and transfusion of multiple doses of platelets. Thrombocytopenia is a common occurrence in moderate to severe crotaline envenomation. Algorit...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2004-10-01 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：: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：:Point-of-care testing (POCT) has been used for illicit substance screening in several settings, primarily in law enforcement and drug treatment centers. In this study, we evaluate the use of this screening approach in the emergency department (ED) of a tertiary-care, urban medical center. Aliquots of urine specimens w...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2002-10-01 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：:Intraventricular hemorrhage (IVH) and classical periventricular leukomalacia complex are considered the two most common forms of perinatal anoxic-ischemic brain injury. However, recently, a third entity, the periventricular leukomalacia complex (PLC) was described and was seen in 31 percent of 61 premature infants com...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1985-03-01 00:00:00
abstract：OBJECTIVE:Intrauterine hypoxia/asphyxia is not the cause, but a consequence of different pathological conditions that requires a more detailed study of the morphogenesis of perinatal death. METHODS:Structural changes in placentas of intrauterine fetal demise (IUFD) in different stages of intrauterine period and placen...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2020-11-01 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：:Within the nervous system, five cell types were studied by the electron microscope: the neuron, astrocyte, oligodendroglia, microglia and ependymal cells. The neurons are characterized by the Nissl substance within the perikaryon, the neurotubules and the neurofilaments. The three types of glial cells can be distingui...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1975-09-01 00:00:00
abstract：:The concentrations of progesterone, cortisol, estradiol, and transcortin binding capacity (TBC) were measured in plasma samples of women during normal pregnancy. Between 10 weeks and 20 weeks gestation, the mean of TBC increased linearly, and the mean increase in TBC for a given estradiol increment was constant until ...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1987-03-01 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：:Acne vulgaris is a common dermatological disorder with a multifactorial pathogenesis. Oxidative status has been implicated in the pathogenesis of several skin diseases, including acne. This study was aimed to investigate the levels of oxidative stress biomarkers in acne vulgaris patients with varying severities. The s...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2014-04-01 00:00:00
abstract：:The most common ultrastructural features of endocrine tumors are reviewed. The diagnostic applications of the electron microscope are illustrated by citation of case histories. ...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1979-03-01 00:00:00
abstract：:The histogenesis of blasts in acute myelofibrosis is generally regarded to be of megakaryocytic origin. Three case reports are presented and 19 other reported cases were reviewed from the literature where the cells of origin appear to be myeloblasts, myelomonoblasts, lymphoblasts, or undifferentiated blasts. It is the...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：1990-11-01 00:00:00
abstract：:To assess mitochondrial function (pyruvate dehydrogenase [PDH] activity), cells were grown in the appropriate media to confluence, rinsed and incubated in glucose free media containing 25 microM L-lactate and [1-14C]-D,L-lactate. Lactate oxidation was measured as the amount of lactate oxidized in nmol of 14CO2 generat...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1992-11-01 00:00:00
abstract：:The role of the mammalian mesonephric kidney is not completely understood. It has been established that outpouchings of the mesonephric excretory ducts give origin to parts of the urogenital system of the adult. It is also known that mammalian mesonephric urine is formed as an ultrafiltrate. The mesonephric renal tubu...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1991-05-01 00:00:00
abstract：:Liquid chromatography-tandem mass spectrometry (LC-MS/MS) was used to measure 6 metabolic compounds of the adrenocorticosteroid pathway simultaneously on residual specimens from patients who had previously been previously diagnosed, on the basis of immunoassays, as having congenital adrenal hyperplasia (CAH), 11 beta-...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2001-04-01 00:00:00
abstract：:This study compared the assay results of HBV markers obtained with two automated immunoassay systems in serum samples with concomitant HBV antigens and antibodies. Eighty-nine samples of concomitant HBsAg and anti-HBs and 74 samples of concomitant HBeAg and anti-HBe were analyzed by the Abbott Architect i2000 and the ...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2010-01-01 00:00:00
abstract：:Male Sprague-Dawley rats were subjected for 2 weeks to daily injections of homocysteine (Hcy), which increased plasma Hcy approximately 2-fold. Echocardiography indicated significant increases in left ventricular diastolic (13%) and systolic (31%) dimensions and decreases in posterior wall thickness (diastolic, -17%; ...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2004-04-01 00:00:00
abstract：:A procedure for the measurement of free erythrocyte protoporphyrin (FEP) in a drop of blood collected on filter paper is described. The method is useful as a screening test for lead poisoning in children. Based on the FEP finding and blood lead tests, asymptomatic children are classified into four major categories. A ...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1976-05-01 00:00:00
abstract：:Erythropoietin is a hormone produced by the kidneys and by certain extrarenal tissues and released into the circulation in response to tissue hypoxia. Its study has provided new information about oxygen transport and bone marrow stem cell function and its determination in plasma can give valuable diagnostic clues as t...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1980-05-01 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：: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：:Variations in the level of prealbumin in serum and spinal fluid were noted on routine electrophoresis. Low serum levels were associated with infection, liver disorders, and malignant disease, whereas high levels were seen in inflammatory disorders. A high spinal fluid prealbumin was noted in a young child with a disse...
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：: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：OBJECTIVE:In this study, we compared the observed agreement and correlation of the Vitek 2 system with the biomarker-based MALDI-TOF MS identification results of bacteria and yeast on a routine basis. METHODS:Clinical isolates collected from two years were included. Isolates were identified using the Vitek 2 system an...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2020-01-01 00:00:00
abstract：:Artifactual distortion of hematopoietic elements in histologic preparations and smears of bone marrow aspirates simulating metastatic small cell carcinoma has been recently described. The clinical, pathologic, and immunohistochemical features in 12 such cases have been studied by us. In all these cases, bone marrow sm...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1993-03-01 00:00:00
abstract：:Recent improvement in imaging technology has enabled ultrasound to assume an increasingly vital role in the identification and evaluation of renal disease. Renal masses can be differentiated. The nonfunctioning kidney can be imaged and obstruction or inflammation diagnosed. When further information is needed, an ultra...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：1981-07-01 00:00:00
