MODULAR ANALYTICS: A New Approach to Automation in the Clinical Laboratory.

MODULAR ANALYTICS (Roche Diagnostics) (MODULAR ANALYTICS, Elecsys and Cobas Integra are trademarks of a member of the Roche Group) represents a new approach to automation for the clinical chemistry laboratory. It consists of a control unit, a core unit with a bidirectional multitrack rack transportation system, and three distinct kinds of analytical modules: an ISE module, a P800 module (44 photometric tests, throughput of up to 800 tests/h), and a D2400 module (16 photometric tests, throughput up to 2400 tests/h). MODULAR ANALYTICS allows customised configurations for various laboratory workloads.

Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings.

Previous studies have suggested that patient care may be compromised as a consequence of poor communication between clinicians and laboratory professionals in cases in which molecular genetic test results are reported. To understand better the contributing factors to such compromised care, we investigated both pre- and postanalytical processes using cystic fibrosis mutation analysis as our model. We found that although the majority of test requisition forms requested patient/family information that was necessary for the proper interpretation of test results, in many cases, these data were not provided by the individuals filling out the forms.

A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

Objective: The objective of this study was to characterize the clinical features of patients with Niemann-Pick disease type B and to identify efficacy end points for future clinical trials of enzyme-replacement therapy.

Methods: Fifty-nine patients who had Niemann-Pick disease type B, were at least 6 years of age, and manifested at least 2 disease symptoms participated in this multicenter, multinational, cross-sectional survey study. Medical histories; physical examinations; assessments of cardiorespiratory function, clinical laboratory data, and liver and spleen volumes; radiographic evaluation of the lungs and bone age; and quality-of-life assessments were obtained during a 2- to 3-day period.

Association between temporal orientation and attitudes about BRCA1/2 testing among women of African descent with family histories of breast cancer.

Objective: Previous studies have identified specific attitudes (pros and cons) about BRCA testing held by women of African descent that are associated with decisions to participate in testing. These testing attitudes may be determined, in part, by temporal orientation, or how one perceives the significance of events and the consequences of their actions in terms of past, present, and future. The current study explored the relationship between temporal orientation and pros and cons of BRCA testing among 140 women of African descent with a family history suggestive of a genetic mutation predisposing to breast cancer.

Molecular genetic testing in the United States: comparison with international practice.

Objective: To compare data on the practices of molecular genetic testing (MGT) in laboratories in the United States with those in 18 other countries.

Methods: A Web-based survey of MGT laboratory directors (n = 827; response rate 63%) in 18 countries on three continents was carried out, and the response from U.S.

Increasing Efficiency and Quality by Consolidation of Clinical Chemistry and Immunochemistry Systems with MODULAR ANALYTICS SWA.

MODULAR ANALYTICS Serum Work Area (in USA Integrated MODULAR ANALYTICS, MODULAR ANALYTICS is a trademark of a member of the Roche Group) represents a further approach to automation in the laboratory medicine. This instrument combines previously introduced modular systems for the clinical chemistry and immunochemistry laboratory and allows customised combinations for various laboratory workloads. Functionality, practicability, and workflow behaviour of MODULAR ANALYTICS Serum Work Area were evaluated in an international multicenter study at six laboratories.

An innovative approach to functionality testing of analysers in the clinical laboratory.

The established protocols for evaluating new analytical systems produce indispensable information with regard to quality characteristics, but in general they fail to analyse the system performance under routine-like conditions. We describe a model which allows the testing of a new analytical system under conditions close to the routine in a controlled and systematic manner by using an appropriate software tool. Performing routine simulation experiments, either reflecting imprecision or method comparison characteristics, gives the user essential information on the overall system performance under real intended-use conditions.

The effect of the UK incentive-based contract on the management of patients with coronary heart disease in primary care.

Background: The new General Medical Services (nGMS) contract was introduced in April 2004 to improve care of chronic diseases such as coronary heart disease (CHD) and reduce differences in treatment between patient subgroups.

Objective: To determine whether the recording of CHD-related health indicators and prescribing of medicines have increased following the introduction of the nGMS contract and whether differences in the treatment of patients of differing age, gender and deprivation have been affected.

Methods: A serial cross-sectional study carried out with 310 general practices in Scotland.

Addiction treatment services and co-occurring disorders: the ASAM-PPC-2R taxonomy of program dual diagnosis capability.

Background: The ASAM-PPC-2R taxonomy of addiction treatment program dual diagnosis capability provides a conceptual model of services for persons with co-occurring substance use and psychiatric disorders. However, no objective study of this model has been conducted.

Method: This paper describes a survey of addiction treatment providers (n = 453) who were asked to identify their program as Addiction Only Services (AOS), Dual Diagnosis Capable (DDC) or Dual Diagnosis Enhanced (DDE).

Are different groups of patients with stroke more likely to be excluded from the new UK general medical services contract? A cross-sectional retrospective analysis of a large primary care population.

Background: In April 2004, an incentive based contract was introduced to UK primary care. An important element of the new contract is the ability to exclude individuals from quality indicators for a variety of reasons (known as 'exception reporting'). Exception of patients with stroke or TIA from the recording and achievement of quality indicators may have important consequences in terms of stroke recurrence and mortality.

Co-occurring psychiatric and substance use disorders: a multistate feasibility study of the quadrant model.

Objective: The quadrant model was developed to organize the heterogeneous group of persons with co-occurring psychiatric and substance use disorders and to anticipate differential use of systems of care. The purpose of the study presented here was to test the feasibility of applying the model to classify persons with co-occurring disorders, examine the reliability of quadrant prevalence and distribution, and test the validity of differential service use by quadrant.

Methods: Medicaid claims data from 1999 from six states were analyzed, and 22,912 individuals with co-occurring disorders were classified into quadrants, by severity of substance use and psychiatric disorders.

Treatment for co-occurring mental and substance use disorders in five state Medicaid programs.

Objectives: This study described the locations and patterns of psychiatric and substance abuse treatment for Medicaid beneficiaries with co-occurring mental and substance use disorders in five states.

Methods: Medicaid beneficiaries aged 21 to 65 with psychiatric or substance use disorders were identified with claims and encounter records. Groups were further divided into those with and those without a diagnosed substance use disorder.

Report of an international survey of molecular genetic testing laboratories.

Objective: To collect data on the practices of molecular genetic testing (MGT) laboratories for the development of national and international policies for quality assurance (QA).

Methods: A web-based survey of MGT laboratory directors (n = 827; response rate 63%) in 18 countries on 3 continents. QA and reporting indices were developed and calculated for each responding laboratory.

A role for sperm in regulation of egg-laying in the nematode C. elegans.

Background: In insects and in mammals, male sperm and seminal fluid provide signaling factors that influence various aspects of female physiology and behavior to promote reproductive success and to compete with other males. It is less apparent how important such signaling is in the context of a self-fertile hermaphrodite species. We have addressed this question in the nematode Caenorhabditis elegans, which can reproduce either by hermaphrodite self-fertilization or by male-hermaphrodite mating.

Aspirin reduces cutaneous flushing after administration of an optimized extended-release niacin formulation.

Objective: Niacin is an effective treatment for dyslipidemia due to its favorable effects on multiple lipid parameters. Clinical utility of niacin is sometimes limited, however, because of cutaneous flushing. A once-daily, extended-release (ER) niacin formulation has been shown to significantly reduce flushing compared to immediate-release niacin.

Safety and efficacy of extended-release niacin for the treatment of dyslipidaemia in patients with HIV infection: AIDS Clinical Trials Group Study A5148.

Background: Dyslipidaemia is very common in patients with HIV infection, but current therapies are often suboptimal. Since niacin may cause insulin resistance and hepatotoxicity, it has generally been avoided in this setting.

Methods: Non-diabetic male subjects (n=33) who had well-controlled HIV infection on antiretroviral therapy, fasting triglycerides > or =2.

Comparative effects on lipid levels of combination therapy with a statin and extended-release niacin or ezetimibe versus a statin alone (the COMPELL study).

International guidelines recommend lower target cholesterol levels and treatment of low high-density lipoprotein cholesterol (HDL-C) and elevated triglycerides for patients at moderately high to high coronary heart disease (CHD) risk. Combination therapy is often required to achieve multiple lipid treatment goals, and > or =50% reduction in low-density lipoprotein cholesterol (LDL-C) is needed in some patients to achieve aggressive LDL-C targets. In this context, we evaluated comparative effects on lipid levels of combination therapy at low to moderate doses with a statin plus extended-release niacin (niacin ER), a statin plus ezetimibe, and a highly potent statin alone.

Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.

Objective: To document the prevalence of neurologic disease in Niemann-Pick disease (NPD) NPD-B.

Study Design: Sixty-four patients with NPD-B had detailed neurologic and ophthalmologic evaluations. The presence of neurologic abnormalities was compared with genotype.

Addiction treatment services and co-occurring disorders: Prevalence estimates, treatment practices, and barriers.

As the model for treating co-occurring disorders in addiction treatment settings becomes articulated, service systems need data on prevalence, current practice, and barriers to the implementation of evidence-based practices. A self-report survey was administered to 453 addiction treatment providers (43 agency directors, 110 clinical supervisors, and 300 clinicians) from a single state system of care. Data on prevalence estimates, treatment practices, and barriers to implementing services for co-occurring disorders were obtained.

Use of standardized patients in, undergraduate medical genetics education.

Background And Purpose: To study the effectiveness of a standardized patient (SP) program in increasing the competence of medical students in assessing genetic risks and communicating genetic information to patients.

Methods: Third-year medical students at the Mount Sinai School of Medicine had two encounters from 2001 to 2003 with the same SP, who portrayed a woman at risk for hereditary breast cancer. Assessment instruments included student self-assessment of skills, SP assessment of student communication skills, an observer checklist, grading of the student-drawn pedigree, and a knowledge test.

Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.

Acid sphingomyelinase (ASM) is the lipid hydrolase that is deficient in types A and B Niemann-Pick disease (NPD). Here, we demonstrate that the gene encoding ASM (SMPD1) is paternally imprinted and that differential expression of the mutant alleles in patients with ASM-deficient NPD and in carriers influences the disease phenotype. Comparison of the results of genomic sequencing versus reverse-transcriptase polymerase chain reaction sequencing for several patients with NPD revealed preferential expression of one mutant allele.

Benefits of niacin in patients with versus without the metabolic syndrome and healed myocardial infarction (from the Coronary Drug Project).

This post hoc analysis from the Coronary Drug Project (CDP) evaluated the effects of niacin monotherapy on clinical outcomes in patients with and without the metabolic syndrome (MS). The CDP was a randomized, placebo-controlled clinical trial of lipid-modifying agents in men with previous myocardial infarction (MI). Of the 5 drug regimens, only niacin significantly decreased definite recurrent nonfatal MI at 6 years and total mortality at a 15-year follow-up.

Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.

Objective: To describe the disease course and natural history of Type A Niemann-Pick disease (NPD).

Methods: Ten patients with NPD-A (six male, four female; age range at entry: 3 to 6 months) were serially evaluated including clinical neurologic, ophthalmologic, and physical examinations, and assessment of development. Laboratory analyses, abdominal and brain ultrasounds, and chest radiographs also were obtained and information on intercurrent illnesses and cause of mortality was collected.