Abstract：
:Small marker chromosomes (SMC) associated with severe Turner syndrome (TS) variants often represent reduced X chromosomes lacking the X inactivation center (XIC), perturbed dosage compensation, and unbalanced gene expression. A TS patient with mental retardation (MR), unusually short stature, facial and limb malformations, and karyotypic mosaicism involving SMCs is described. Cytogenetic and fluorescence in situ hybridization (FISH) studies of blood and lymphoblastoid cells showed that the SMC was X-chromosome derived, contained a functional centromere, and had ring formation. Karyotypes of 45/46,X,r(X) in blood cells and 45,X/46,-XX/46,X,r(X)/47,X,r(X), + r(X) in fibroblasts were found. Late-replication of the SMC was inconclusive, but the X inactivation specific transcript (XIST) locus within XIC was demonstrated by fluorescent in situ hybridization (FISH). Mechanisms are reviewed that can account for our patient's unusual TS phenotype.
journal_name
Ann Clin Lab Scijournal_title
Annals of clinical and laboratory scienceauthors
Cantú ES,Jacobs DF,Pai GSsubject
Has Abstractpub_date
1995-01-01 00:00:00pages
60-5issue
1eissn
0091-7370issn
1550-8080journal_volume
25pub_type
杂志文章abstract：:Von Willebrand factor (VWF) cleaving metalloprotease, ADAMTS13, known for its causative relation to thrombotic thrombocytopenic purpura (TTP), also decreases to variable degree in other clinical conditions associated with thrombocytopenia, indicating a possible contribution of moderate deficiency of ADAMTS13 to platel...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2008-10-01 00:00:00
abstract：:Pseudoparaproteins were observed in 129 (10.5%) of 1,229 high resolution protein electrophoretic fractionations of serum (N = 847), urine (N = 368), or cerebrospinal fluid (N = 14) performed in this laboratory during a 12-month period. The pseudoparaproteins identified in serum electrophoretic patterns included fibrin...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2000-07-01 00:00:00
abstract：:Neuropeptide modulation of hematopoietic stem cell differentiation was studied in an in vitro murine system. Endorphins were able to influence the erythropoietin-dependent differentiation of bone marrow cells into erythroid colony forming units in a dose dependent manner. The effects on progenitor cell maturation were...
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：: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：BACKGROUND:We compared the AdvanSure hepatitis B virus real-time polymerase chain reaction (AdvanSure HBV) kit with three other HBV DNA quantification assays and evaluated its performance. METHODS:The AdvanSure HBV real-time PCR assay was compared with the Abbott RealTime HBV Quantification Kit, the COBAS TaqMan HBV T...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2013-04-01 00:00:00
abstract：:Tissue obtained from 55 men with prostatic disease was assayed for estrogen and androgen receptors by a newly developed histochemical technique. The material studied consisted of 45 specimens of benign nodular prostatic hyperplasia and 10 specimens of prostatic adenocarcinoma. The results obtained were compared to tho...
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：OBJECTIVE:This study aims to develop a strategy for distinguishing Yersinia pestis of the Xilingele Plateau ecotype from other biovar of Yersinia pestis using insertion sequences. METHODS:Genome computational analysis was used to discover the positions of insertion sequences unique to Yersinia pestis 91001. PCR was us...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2019-09-01 00:00:00
abstract：:Ultrastructural studies with the transmission (TEM) and scanning (SEM) electron microscopes have added greatly to our knowledge of cellular structure and function in the liver. The normal polyhedral hepatocyte has numerous subcellular organelles, such as mitochondria, peroxisomes, lysosomes and complex rough (rer) and...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：1984-03-01 00:00:00
abstract：OBJECTIVE:To search for hematological parameters changes in human rotavirus (HRV) infectious acute gastroenteritis in children and find useful parameters for the differential diagnosis in low re-source environments. METHODS:In this study, children less than 5 years old were divided into three groups which were rotavir...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2020-07-01 00:00:00
abstract：:Coronary heart disease (CHD), the leading cause of death in the western world, is multifactorial in nature. Abnormal lipoprotein levels are among the risk factors that cause atherosclerosis and, therefore, have been used as biochemical markers in assessing risk of developing CHD. The measurement of serum cholesterol, ...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：1988-11-01 00:00:00
abstract：:Aeromonas hydrophila has emerged as a potential pathogen in the immunocompromised host. Various aeromonal infections, including septicemia, have also been reported in apparently healthy individuals. For years, researchers have disagreed over the epidemiologic roles of aeromonads in gastroenteritis. Isolation rates of ...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1997-07-01 00:00:00
abstract：:Current changes of the healthcare environment have promoted the creation of chest pain centers in the emergency departments for rapid triage of patients admitted for cardiac evaluation. Because of the inefficiency of electrocardiogram for the diagnosis of acute myocardial infarction, blood cardiac markers play an impo...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1996-07-01 00:00:00
abstract：:We describe a case of relapsed Plasmodium falciparum malaria detected by rapid diagnostic testing (RDT) 19 days before microscopic- or PCR-positive conversion. Three malaria tests gave discrepant results; the malaria smear and polymerase chain reaction (PCR) tests were both negative, while malaria RDT with a commercia...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2010-04-01 00:00:00
abstract：:Spurious macrocytosis in electronic cell counters has been associated with hyperglycemia. The increased mean corpuscular volume (MCV) is thought to be secondary to osmotic disequilibrium between the erythrocyte and the diluent used in the automatic cell counters. Employing three different hematology cell counters, the...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1985-07-01 00:00:00
abstract：:Alzheimer's disease (AD), a progressive neurodegenerative disorder, accounts for approximately 60 percent of all victims of dementia and affects greater than 10 percent of the population over 65 years old. Although the cause is unknown, there is evidence that beta-amyloid plays an important role in its pathogenesis. T...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：1993-05-01 00:00:00
abstract：:Mutations in SCN8A, which codes for the voltage-gated sodium channel NaV1.6, have been described in relation to infantile onset epilepsy with developmental delay and cognitive impairment. Here, we report the case of an infant and her father with early onset benign familial infantile epilepsy, but without cognitive or ...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2017-11-01 00:00:00
abstract：BACKGROUND:For viral load (VL) analysis of hepatitis C virus (HCV) by Real Time PCR, approved collection tubes were lavender top (LTT) and plasma processing (PPT) tubes, that differ in that PPTs include plasma separator. Using a Real Time PCR method, we investigated how the results correlated for the two tube types. M...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2018-05-01 00:00:00
abstract：:The existence of clonorchiasis cases among the Asian immigrants and the major clinical and pathologic features encountered in those patients is emphasized. Owing to the longevity of the parasite, clinical symptoms may occur long after endemic exposure. The common manifestations among the immigrants are recurrent pyoge...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章,评审
doi：
更新日期：1984-05-01 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：:Chemokines are low-molecular-weight chemotactic proteins that regulate the trafficking of leukocytes to inflammatory sites and may recruit inflammatory cells to the epidermis. Chemokines are produced by many immune cells such as macrophages, mast cells, T lymphocytes and others, in response to pro-inflammatory stimuli...
journal_title：Annals of clinical and laboratory science
pub_type： 信件
doi：
更新日期：2015-07-01 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
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：:Gamma irradiation of blood is performed to prevent transfusion-associated graft-versus-host disease and can result in an accelerated efflux of intracellular potassium (K+). The oxygen content of the blood and the temperature at which the irradiation is carried out are two variables reported to affect this shift; they ...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1994-07-01 00:00:00
abstract：:The detection of oligoclonal bands of IgG in cerebrospinal fluid by isoelectric focusing is a useful aid in the diagnosis of multiple sclerosis. At present, this test is performed on polyacrylamide gels which are technically very difficult to prepare and are not suitable for the routine laboratory. A technique is desc...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1984-03-01 00:00:00
abstract：:This study evaluated the performance of a handheld coagulation analyzer for measurements of capillary blood specimens of 93 outpatient cardiology patients with atrial fibrillation who were receiving oral anti-coagulant therapy. The international normalized ratio (INR) results of the CoaguChek XS system (Roche Diagnost...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2008-01-01 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：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：:Although it is widely accepted that patients with immune thrombocytopenia produce platelet antibodies, the demonstration of such antibodies has been difficult and time consuming. A simple and quick enzyme linked immunoassay for platelet antibodies is presented. The platelet associated IgG is coupled with alkaline phos...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：1982-01-01 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：:We report a case of a 69-yr-old previously healthy man with acute spontaneous Achilles tendon rupture and severe tendonitis, which occurred after 2 weeks of steroid therapy for newly diagnosed giant cell arteritis. The Achilles tendon rupture was treated conservatively and the tendonitis resolved incrementally with st...
journal_title：Annals of clinical and laboratory science
pub_type： 杂志文章
doi：
更新日期：2003-07-01 00:00:00
