Molecular genetic advances in neurodegenerative disorders.

Abstract:

:Advances in molecular genetics have had a major impact on our understanding of the pathogenesis of neurologic disorders. This article discusses molecular genetic contributions to our knowledge of Huntington's disease, amyotrophic lateral sclerosis, and Alzheimer's disease, as well as their implications for diagnosis and treatment. Specific, sensitive testing for Huntington's disease is now possible; elucidation of the pathogenesis of familial amyotrophic lateral sclerosis has been achieved and has launched promising drug trials; and the heterogeneity and pathogenetic complexity of Alzheimer's disease have been revealed.

journal_name

Clin Lab Med

authors

Aguilera AJ

subject

Has Abstract

pub_date

1995-12-01 00:00:00

pages

915-26

issue

4

eissn

0272-2712

issn

1557-9832

journal_volume

15

pub_type

杂志文章,评审
  • Coagulopathies of liver disease.

    abstract::Disturbed liver parenchymal cell function adversely impacts on the hemostasis system, the extent of which correlates with the degree of liver disease. Because liver parenchymal cells synthesize most factors of the clotting and the fibrinolytic systems, levels of these procoagulant and anticoagulant as well as profibri...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Mammen EF

    更新日期:1994-12-01 00:00:00

  • Health Information Systems.

    abstract::This article provides surgical pathologists an overview of health information systems (HISs): what they are, what they do, and how such systems relate to the practice of surgical pathology. Much of this article is dedicated to the electronic medical record. Information, in how it is captured, transmitted, and conveyed...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:10.1016/j.cll.2015.09.012

    authors: Sirintrapun SJ,Artz DR

    更新日期:2016-03-01 00:00:00

  • Alkaline phosphatases. Newer concepts in isoenzymes and clinical applications.

    abstract::ALP is a profoundly ubiquitous enzyme that originates in many, if not all, mammalian tissues. The development of a simple ISEF technique has allowed reflection of at least 12 cellular components. Improvements in technique may add further zones of information. The aura of darkness surrounding ALP is being slowly dissip...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Griffiths J

    更新日期:1989-12-01 00:00:00

  • New developments in flow cytometric analyses of lymphocyte markers.

    abstract::This article addresses several fundamental features of clinical flow cytometry. A practical overview of the technical and methodologic aspects of this fast-growing and increasingly important new clinical and investigative field is provided. The use of flow cytometry for the diagnosis and monitoring of various chronic ...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Kipps TJ,Meisenholder G,Robbins BA

    更新日期:1992-06-01 00:00:00

  • Lead poisoning--Part II. Effects and assay.

    abstract::This second part of the review article compiles currently available information on the effects of lead poisoning. Also examined are the available options for assay, the procedures for collection of samples, and the available methods for the estimation of lead in the collected samples. ...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Philip AT,Gerson B

    更新日期:1994-09-01 00:00:00

  • An overview of first-trimester screening for chromosomal abnormalities.

    abstract::The last decade has witnessed the transformation of first-trimester Down syndrome screening from an aspiration to a clinical reality. First-trimester screening now equals or exceeds the diagnostic accuracy of conventional midtrimester screen while realizing an important desire of pregnant women for early diagnosis. Be...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:10.1016/j.cll.2010.05.001

    authors: Bahado-Singh RO,Argoti P

    更新日期:2010-09-01 00:00:00

  • Diagnosis and management of neonatal alloimmune thrombocytopenia in pregnancy.

    abstract::Neonatal alloimmune thrombocytopenia (NAIT) is the most common cause of severe thrombocytopenia in the healthy newborn, occurring in 1 in 1000 live births. NAIT is analogous to rhesus alloimmunization in pathophysiology; however, it often presents unexpectedly in first pregnancies. Presentation of NAIT varies from mil...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:10.1016/j.cll.2013.03.024

    authors: Strong NK,Eddleman KA

    更新日期:2013-06-01 00:00:00

  • Diagnostic Molecular Microbiology: A 2018 Snapshot.

    abstract::Molecular biological techniques have evolved expeditiously and in turn have been applied to the detection of infectious disease. Maturation of these technologies and their coupling with related technological advancement in fluorescence, electronics, digitization, nanodynamics, and sensors among others have afforded cl...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:10.1016/j.cll.2018.02.004

    authors: Fairfax MR,Bluth MH,Salimnia H

    更新日期:2018-06-01 00:00:00

  • The red cell indices. Yesterday, today, and tomorrow.

    abstract::The red cell indices of mean corpuscular volume, mean corpuscular hemoglobin, and mean corpuscular hemoglobin concentration have been standard methods of evaluating anemia since they were developed by Wintrobe in the 1930s. This article discusses the technical variabilities that have rendered the classic red cell indi...

    journal_title:Clinics in laboratory medicine

    pub_type: 历史文章,杂志文章,评审

    doi:

    authors: Savage RA

    更新日期:1993-12-01 00:00:00

  • Current assessment of microhematuria and leukocyturia.

    abstract::Technical advances in laboratory testing such as sensitive chemical tests and standardized commercial slides have significantly altered our entire approach to urinalysis. In addition, the recognition of the association of microhematuria with urologic neoplasms and the morphologically altered red blood cells with renal...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Shenoy UA

    更新日期:1985-06-01 00:00:00

  • Background--setting the stage for alternate-site laboratory testing.

    abstract::Market forces and service demands are driving a segment of laboratory testing away from centralized laboratories and closer to the patient's bedside. Placed into a historical perspective, this should be neither surprising nor distressing. Terminology is being clarified and professional societies are beginning to take ...

    journal_title:Clinics in laboratory medicine

    pub_type: 历史文章,杂志文章,评审

    doi:

    authors: Handorf CR

    更新日期:1994-09-01 00:00:00

  • Tumor markers in endocrine malignancies.

    abstract::The development of assay techniques for the analysis of tumor markers in tissue extracts and in the peripheral circulation has had a major impact on the diagnosis and management of patients with endocrine neoplasms. In addition to eutopic and ectopic hormones, a variety of other tumor-derived products, including endoc...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: DeLellis RA

    更新日期:1990-03-01 00:00:00

  • Immunohistochemistry in surgical pathology. The case of the undifferentiated malignant neoplasm.

    abstract::An ideal immunohistochemical screening panel would be one in which each antibody is 100% sensitive and specific for the target cell type (e.g., markers for epithelial neoplasms, lymphomas, sarcomas, etc.). Anyone who has practiced immunochemistry is well aware that this situation does not exist. High sensitivity is hi...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Linder J

    更新日期:1990-03-01 00:00:00

  • Immunodiagnosis of schistosomiasis. Screen with FAST-ELISA and confirm with immunoblot.

    abstract::The most efficacious and practical means of diagnosing human schistosomiasis is based on the detection of infection-specific antibodies. Because of their high sensitivity, antibody assays remain the most practical assays for epidemiologic studies and patient management. Initial screening may be performed in the field ...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Tsang VC,Wilkins PP

    更新日期:1991-12-01 00:00:00

  • Modifying Risk of Aneuploidy with a Positive Cell-Free Fetal DNA Result.

    abstract::Noninvasive genomic assessments of the fetus while in utero have been made possible by the analysis of cell-free fetal DNA fragments from the serum of pregnant women, as part of a noninvasive prenatal testing screening strategy. Between 7% and 10% of total cell-free DNA in the maternal blood comes from placental troph...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:10.1016/j.cll.2016.01.018

    authors: Long AA,Abuhamad AZ,Warsof SL

    更新日期:2016-06-01 00:00:00

  • Laboratory diagnosis of antiphospholipid syndromes.

    abstract::The search for clinical outcomes associated with antiphospholipid antibodies (aPL) has been ongoing for a decade. This article focuses on the clinical use of tests for the detection of aPL. A review of the current thinking regarding the pathophysiology of antiphospholipid syndromes is relevant to the discussion of dif...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Reyes H,Dearing L,Bick RL,Shoenfeld Y,Peter JB

    更新日期:1995-03-01 00:00:00

  • Medical laboratory informatics.

    abstract::Laboratory informatics is the application of computers and information systems to information management in the pathology laboratory. Effective information management is crucial to the success of pathologists and laboratorians. Informatics has become one of the key pillars of pathology, and the requirement for skilled...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:10.1016/j.cll.2007.07.011

    authors: Pantanowitz L,Henricks WH,Beckwith BA

    更新日期:2007-12-01 00:00:00

  • Hyperthermic syndromes induced by toxins.

    abstract::Normal thermogenesis requires a complex interaction between systems that generate and dissipate heat. Serving as director of thermogenesis, the hypothalamus activates the sympathetic nervous system along with the thyroid and adrenal glands to respond to changes in body temperature. Working in concert, these systems re...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:10.1016/j.cll.2006.01.007

    authors: Rusyniak DE,Sprague JE

    更新日期:2006-03-01 00:00:00

  • Establishing a therapeutic drug monitoring consultation service.

    abstract::A formal therapeutic drug monitoring consultation service (TDMCS) will enhance the clinical benefits of drug level determinations. It can result in decreased length of stay and improved risk management posture. The successful implementation of a TDMCS requires the coordinated efforts of a multidisciplinary team that m...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Wilkinson DS

    更新日期:1987-06-01 00:00:00

  • Therapy other than reverse transcriptase inhibitors for HIV infection.

    abstract::Antiretroviral drugs against HIV infection have been developed that inhibit various stages of the HIV replication cycle. Agents other than reverse transcriptase inhibitors are reviewed with particular attention to those under study in clinical trials, including inhibitors of the virus-encoded protease enzyme. In addit...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Kaplan JC,Hirsch MS

    更新日期:1994-06-01 00:00:00

  • Free drug monitoring.

    abstract::The principles, technique of measurement, and clinical significance of free drugs are reviewed. Albumin, alpha-1-acid glycoprotein, and lipoprotein are the main drug-binding proteins in blood. Variations of the concentrations of these proteins owing to disease would result in changes in the free drug levels. These lev...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Chan S,Gerson B

    更新日期:1987-06-01 00:00:00

  • Fine-needle aspiration cytology of the ovary.

    abstract::FNA cytology has been shown to be highly accurate in diagnosing malignant tumors. In gynecology, an overall accuracy of 94.5% in the differentiation between benign and malignant tumors has been reported. Despite many controversial views regarding its safety, aspiration cytology has been accepted as an innocuous proced...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Ganjei P

    更新日期:1995-09-01 00:00:00

  • The interrelationships of the gut microbiome and inflammation in colorectal carcinogenesis.

    abstract::The cause of colorectal cancer (CRC) is multifactorial, with genetic, molecular, inflammatory, and environmental risk factors. Recently, the gut microbiota has been recognized as a new environmental contributor to CRC in both animal models and human studies. An additional interplay of the gut microbiome with inflammat...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:10.1016/j.cll.2014.08.002

    authors: Cho M,Carter J,Harari S,Pei Z

    更新日期:2014-12-01 00:00:00

  • Toxicology and biocompatibility considerations in the evaluation of polymeric materials for biomedical applications.

    abstract::It is necessary to determine the safety of polymeric materials through laboratory and animal testing before biomedical use can become more widespread. This article describes many of the methods used in analyzing the toxicology and biocompatibility of potentially important biomedical polymers. The study method used in ...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Laurencin CT,Pierre-Jacques HM,Langer R

    更新日期:1990-09-01 00:00:00

  • Type 2 diabetes in Asian Indians.

    abstract::India is a global leader in diabetes, currently with second largest pool of diabetes in the world. Asian Indian phenotype is uniquely predisposed to develop type 2 diabetes because of strong familial aggregation as well lifestyle factors of imprudent diet and sedentary physical habit. The typical Asian Indian phenotyp...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:10.1016/j.cll.2012.04.012

    authors: Joshi SR

    更新日期:2012-06-01 00:00:00

  • Modulation of T-cell-mediated regulation of antibody production by interaction with specific immune complexes.

    abstract::The importance of the phlogogenic effects of immune complexes in disease pathogenesis has been emphasized, but they also have a role in immunoregulation. We examined the effects of DNA: anti-DNA immune complexes, formed at different antigen:antibody ratios, on the ability of T cells to modulate DNA antibody production...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Clough JD,Calabrese LH,Budervic SA

    更新日期:1988-06-01 00:00:00

  • The role of second-trimester serum screening in the post-first-trimester screening era.

    abstract::Considerable advances have been made in identifying women whose pregnancies are at the greatest risk for fetal Down syndrome and other aneuploidies. Maternal serum tests and ultrasonography in either the first or second trimester provide effective prenatal screening. However, the most efficacious protocols are based o...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:10.1016/j.cll.2010.04.013

    authors: Shamshirsaz AA,Benn P,Egan JF

    更新日期:2010-09-01 00:00:00

  • Infections by Intestinal Coccidia and Giardia duodenalis.

    abstract::The coccidians Cryptosporidium spp, Cyclospora cayetanensis, and Cystoisospora belli and the flagellate Giardia duodenalis are pathogenic protozoa associated with gastrointestinal manifestations. Diagnosis relies heavily on microscopy, and although ova-and-parasite examinations can detect Giardia and Cystoisospora, Cr...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:10.1016/j.cll.2015.02.010

    authors: Cama VA,Mathison BA

    更新日期:2015-06-01 00:00:00

  • Primary processing of specimens and isolation and cultivation of mycobacteria.

    abstract::Processing of specimens for mycobacteria need to proceed as rapidly as possible to provide 24 hour turnaround for smears and 21-day turnaround for the identification of Mycobacterium tuberculosis. If these goals are to be accomplished, a broth culture or microcolony plate method must be part of the media and in the pl...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Hall GS

    更新日期:1996-09-01 00:00:00

  • Laboratory diagnosis of malaria.

    abstract::Diagnostic procedures for the detection of malaria differ considerably depending on the aims of evaluation. The current requirements of any laboratory procedure for general application to the detection and diagnosis of malaria include: sensitivity, specificity, simplicity in application, unambiguous interpretation, an...

    journal_title:Clinics in laboratory medicine

    pub_type: 杂志文章,评审

    doi:

    authors: Makler MT,Gibbins B

    更新日期:1991-12-01 00:00:00