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PubMedDate not supplied

[Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene].

The Nail-Patella Syndrome (NPS) (OMIM: 161200) is an autosomal dominant disorder characterized by skeletal malformations, such as: patellar aplasia/ hypoplasia, iliac horns on X-ray as well as nail dysplasia, renal and ocular abnormalities. Mutations in the gene encoding transcription factor LMX1B, mapped on the long arm of chromosome 9 (9q34), are responsible for the clinical phenotype of NPS. A familial case (in the mother and her son) of Nail-Patella Syndrome is presented here. DNA analysis has shown a new missense mutation in exon 5 of LMX1B gene (745C-G) leading to a change of glutamine into glutamic acid (Q245E) in the coded protein. Characteristic clinical features, seen in both patients, are discussed within the context of molecular analysis results.

Adult↗

PubMed1993

Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.

The type IV collagen alpha 5 chain (COL4A5) genes of patients with Alport syndrome were tested for major gene rearrangements by Southern blot analysis, using COL4A5 cDNA clones as probes. In addition, individual exons were screened for small mutations by single-strand conformation polymorphism (SSCP) analysis. Four new COL4A5 mutations were detected. A duplication of the nine most 3' located nucleotides of exon 49 and the first nucleotide of intron 49 was identified in the COL4A5 gene of one patient. Two patients displayed single base substitutions leading to, respectively, a proline to threonine and an arginine to glutamine substitution in the C-terminal end. Both substitutions involve amino acids conserved through evolution. In COL4A5 intron 41 a mutation changing the splice acceptor site from AG to AA was identified. All mutations cosegregate with the clinical phenotype of Alport syndrome in affected family members. In a control population of 50 individuals tested by PCR-SSCP these mutations were never identified. Together with two mutations reported previously, a total of six mutations were found in 26 patients with Alport syndrome (23%) after systematic screening of about 30% of the COL4A5 coding region. The clinical features of these six patients are described in detail.

Amino Acid Sequence↗

PubMedDate not supplied

Good clinical practice, a transparent way of life. A review.

Investigators are regarded as central to the concept of clinical trials. Apart from bearing scientific responsibility, they will be confronted with a great number of ethical dilemma's concerning, amongst others, the justification and design of the trial, subject selection and informed consent, and presentation of the trial results. The ethical principles of biomedical research should be observed in accordance with a consistent moral code. The moral code of Good Clinical Practice (GCP) was developed in order to rule out inconsistencies. The principal tenets are that clinical trials should be good science, verifiable, monitored, well documented, and that they comply with the highest ethical standards. The principles of GCP are the protection of the rights of human subjects, integrity and reproducibility of data, and transparency of conduct.

Clinical Trials as Topic↗

PubMed2004

GPs' decisions on drug treatment for patients with high cholesterol values: a think-aloud study.

BACKGROUND: The purpose was to examine how General Practitioners (GPs) use clinical information and rules from guidelines in their decisions on drug treatment for high cholesterol values. METHODS: Twenty GPs were presented with six case vignettes and were instructed to think aloud while successively more information about a case was presented, and finally to decide if a drug should be prescribed or not. The statements were coded for the clinical information to which they referred and for favouring or not favouring prescription. RESULTS: The evaluation of clinical information was compatible with decision-making as a search for reasons or arguments. Lifestyle-related information like smoking and overweight seemed to be evaluated from different perspectives. A patient's smoking favoured treatment for some GPs and disfavoured treatment for others. CONCLUSIONS: The method promised to be useful for understanding why doctors differ in their decisions on the same patient descriptions and why rules from the guidelines are not followed strictly.

Adult↗

PubMed1998

Creating injury episodes using medical claims data.

BACKGROUND: Health care episodes are traditionally created for a specific condition using defined relevant diagnosis and procedure codes and a start and end period. Our goal is to use 1987 to 1989 medical claims data to create distinct episodes of care as a result of injury. METHODS: Claims for 102,000 people younger than 65 years were obtained from Medstat Systems, Inc. Injury claims were identified by International Classification of Diseases, 9th Revision, Clinical Modification diagnosis codes and separated into 10 body regions. Using linked inpatient and outpatient claims data, we established clear zones--a maximum period for a return visit for medical treatment--for each of 10 body regions injured by hospitalization status. These clear zones were used to create episodes of injury. RESULTS: A total of 295,165 injury claims created 79,564 episodes of injury. Limb and trunk injuries typically have the most follow-ups in terms of number of claims and spacing between claims. Brain injuries, even for admitted patients, result in an average of fewer than two follow-up claims. On average, hospitalized patients require only one more follow-up than nonadmitted patients. CONCLUSIONS: This paper presents a method for identifying injury episodes using a medical claims database. The analysis suggests that follow-up to check for minor long-term sequelae of brain injury is rare.

Adult↗

PubMed2005

A Bayesian network coding scheme for annotating biomedical information presented to genetic counseling clients.

We developed a Bayesian network coding scheme for annotating biomedical content in layperson-oriented clinical genetics documents. The coding scheme supports the representation of probabilistic and causal relationships among concepts in this domain, at a high enough level of abstraction to capture commonalities among genetic processes and their relationship to health. We are using the coding scheme to annotate a corpus of genetic counseling patient letters as part of the requirements analysis and knowledge acquisition phase of a natural language generation project. This paper describes the coding scheme and presents an evaluation of intercoder reliability for its tag set. In addition to giving examples of use of the coding scheme for analysis of discourse and linguistic features in this genre, we suggest other uses for it in analysis of layperson-oriented text and dialogue in medical communication.

Artificial Intelligence↗

PubMed1992

Physician practices in the management of venous thromboembolism: a community-wide survey.

Although there is a broad consensus on the optimum approach to the management of venous thromboembolism, there are few data from which to assess the extent of compliance with these recommendations. A community-wide study was therefore conducted in 16 short-stay hospitals in central Massachusetts to assess the clinical management of venous thromboembolism. Based on validated discharge diagnostic codes, there were 1231 clinically recognized cases of venous thromboembolism, 0.8% of 148,730 discharges in the 18-month period from July 1, 1988, to December 31, 1989. Eighty-one percent of study patients were admitted with signs or symptoms of acute venous thromboembolism. Ninety-seven percent of patients were treated with either heparin, warfarin, or inferior vena caval filter. Intravenous heparin was given to 89% of patients (mean bolus 6674 IU; mean duration 6.6 days). After heparin administration, there was a mean delay of 2.3 days in starting warfarin. Assuming a corresponding decrease in the length of hospital stay, appreciable cost savings could have been realized by earlier start of oral anticoagulation. An inferior vena cava filter was placed in 14% of patients. There was a clinically recognized in-hospital recurrence of venous thromboembolism during treatment in 2% of patients. Despite a slightly lower rate of compliance with recommended treatment regimens in nonteaching hospitals, and despite less frequent use of the inferior vena cava filter, there was no significant difference in the rate of in-hospital recurrence of clinically recognized venous thromboembolism in 10 nonteaching hospitals compared with six teaching hospitals.(ABSTRACT TRUNCATED AT 250 WORDS)

Aged↗

PubMed2004

On the ethics of facial transplantation research.

Transplantation continues to push the frontiers of medicine into domains that summon forth troublesome ethical questions. Looming on the frontier today is human facial transplantation. We develop criteria that, we maintain, must be satisfied in order to ethically undertake this as-yet-untried transplant procedure. We draw on the criteria advanced by Dr. Francis Moore in the late 1980s for introducing innovative procedures in transplant surgery. In addition to these we also insist that human face transplantation must meet all the ethical requirements usually applied to health care research. We summarize the achievements of transplant surgery to date, focusing in particular on the safety and efficacy of immunosuppressive medications. We also emphasize the importance of risk/benefit assessments that take into account the physical, aesthetic, psychological, and social dimensions of facial disfiguration, reconstruction, and transplantation. Finally, we maintain that the time has come to move facial transplantation research into the clinical phase.

Body Image↗

PubMed1995

Hospital discharge register data in the assessment of trends in acute myocardial infarction. FINMONICA AMI Register Study Team.

We evaluated the reliability hospital discharge register data in the assessment of acute myocardial infarction trends. In the FINMONICA study areas, trends in age standarized attack rates for the years 1983-90 were calculated independently from two sources: the nationwide Finnish hospital discharge register and the FINMONICA acute myocardial infarction register. The trends were compared by a statistical regression model. The trends obtained from the hospital discharge register were very similar to the trends obtained from the FINMONICA acute myocardial infarction register. The attack rates differed significantly, however, and the change in the International Classification of Diseases version from version 8 to version 9 brought on a change in the attack rates obtained from the hospital discharge register. Thus, hospital discharge register data can be used to assess acute myocardial infarction trends in the community. However, modifications of the International Classification of Diseases codes (new versions of the classification) and changes in the clinical use of the codes for coronary heart disease can have an impact on the attack rates obtained from the hospital discharge register, and the reliability of the hospital discharge register data should be regularly assessed.

Adult↗

PubMed2000

Involve physicians and coders in measuring and improving clinical outcomes.

An innovative program has brought physicians and coders together to reduce one facility's complication rates. To overcome physician resistance and improve physician documentation, quality management staff formed an ad hoc group of physicians to work with the coding supervisor to set clinical guidelines for the coding of complications, launched an in-house coding newsletter, and formed a coding subcommittee within the hospital's resource steering committee.

Attitude of Health Personnel↗

PubMed2003

Overview of inpatient coding.

The main classification-based and nomenclature-based coding systems used in the United States, as well as the process and importance of documenting in the patient record, are discussed. Hospital pharmacists usually have limited knowledge of and exposure to coding and reimbursement in the inpatient system. Coding allows for reporting of mortality data to the World Health Organization (WHO), reporting morbidity data in the U.S., and providing data for reimbursement from third-party payers to hospitals for services provided. Coded information is also the primary source for administrative management of medical services and a source of epidemiologic and statistical data from inpatient stays. In order to better understand inpatient coding and reimbursement, this article will discuss the International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) coding system; the Healthcare Common Procedure Coding System (HCPCS); the process and importance of appropriate chart documentation; and the development of the International Classification of Diseases, 10th Revision, Clinical Modification (ICD-10-CM) coding system. Coding in the inpatient setting enables hospital billing and provides statistical data for epidemiology and financial planning. The ICD-9-CM is a clinically modified version of the international ICD-9 system used for coding both diagnoses and procedures in the United States. Coding is derived from documentation found in the patient's chart. Appropriate documentation is key for quality and continuity of care and compensation for resources utilized. In the future the ICD-9-CM will be replaced by the 10th revision, ICD-10, which is already in use in many countries in Europe.

Abstracting and Indexing↗

PubMed2000

HIV healthcare provider-patient interaction: observations on the process of providing antiretroviral treatment.

The meeting during which healthcare providers and newly infected HIV+ patients discuss treatment options is a critical stage in patients' care. We describe 10 interactions between healthcare providers and HIV+ patients at two clinics. Two observers coded each of the 10 interactions for the content of the topics discussed and for communication-relevant behaviors. The interactions followed one of two general patterns, according to whether combination antiretroviral treatment was recommended or deferred. Features of the interactions are described. These features include: (1) the presentation of a single-treatment option, (2) a discussion of whether patients have the will to begin therapy and the skills to adhere to treatment regimens, and (3) organizational pressures to include patients in clinical trials.

Adult↗

PubMed1988

Use of bar code labels on collection tubes for specimen management in the clinical laboratory.

A new generation in specimen handling has arrived with the introduction of bar code readers on medical laboratory equipment. The incorporation of this technology into laboratory information systems offers a streamlining of specimen workflow never before achievable in a laboratory environment. The use of evacuated collection tubes as the primary sampling container on a random-access chemistry analyzer interfaced to a laboratory information system creates a very simplified sampling/analysis system with tremendous advantages. There are significant labor savings, superior service to clinicians, and reduced chances for clerical error.

Computers↗

PubMed2006

An Ontology driven collaborative development for biomedical terminologies: from the French CCAM to the Australian ICHI coding system.

The CCAM French coding system of clinical procedures was developed between 1994 and 2004 using, in parallel, a traditional domain expert's consensus method on one hand, and advanced methodologies of ontology driven semantic representation and multilingual generation on the other hand. These advanced methodologies were applied under the framework of an European Union collaborative research project named GALEN and produced a new generation of biomedical terminology. Following the interest in several countries and in WHO, the GALEN network has tested the application of the ontology driven tools to the existing reduced Australian ICHI coding system for interventions presently under investigation by WHO to check its ability and appropriateness to become the reference international coding system for procedures. The initial results are presented and discussed in terms of feasibility and quality assurance for sharing and maintaining consistent medical knowledge and allowing diversity in linguistic expressiveness of end users.

Australia↗

PubMed1991

Recombinant fusion protein identified by lepromatous sera mimics native Mycobacterium leprae in T-cell responses across the leprosy spectrum.

Pooled polyvalent sera from lepromatous leprosy patients were used to screen a lambda gt11 recombinant DNA expression library of Mycobacterium leprae in order to identify the relevant antigens recognized by the human immune response. Of the 300,000 phages screened, 4 clones were identified that coded for fusion proteins of the same molecular mass. The fusion protein from clone LSR2 was tested for immunoreactivity in assays using peripheral blood cells and sera from 11 laboratory personnel and 105 patients across the leprosy spectrum. LSR2 protein appears to be predominantly a T-cell antigen. It evokes similar lymphoproliferative responses as the native bacillus both at the individual level and in the leprosy spectrum as a whole. Though only 50% of patient sera with anti-M. leprae antibodies reacted with the fusion protein, the pattern of reactivity in the antibody responses was also similar for the various clinical types. The coding regions of clones LSR1 and LSR2 are identical. They show no homology with sequences stored in data banks and encode a protein of 89 amino acids with a calculated molecular mass of approximately 10 kDa.

Amino Acid Sequence↗

PubMed1997

Effect of the Asymptomatic Carotid Atherosclerosis Study on carotid endarterectomy in Veterans Affairs medical centers.

OBJECTIVE: To examine the effect of the Asymptomatic Carotid Atherosclerosis Study on the volume of carotid endarterectomies (CEAs) performed in Veterans Affairs medical centers. DESIGN: The data were retrospectively extracted from the Veterans Affairs Patient Treatment File for all patients undergoing CEA using the International Classification of Diseases, Ninth Revision, Clinical Modification procedural code 38.12. Data were classified into patient management categories to identify complications and to quantify the severity of illnesses and comorbidities. SETTING: All 172 US Veterans Affairs medical centers. PATIENTS: Veterans undergoing CEA during fiscal years 1993 through 1995. MAIN OUTCOME MEASURES: Procedural volume, mortality, and morbidity. RESULTS: There was a 43.4% increase in the volume of CEAs performed in fiscal year 1995 despite a 4.6% decrease in the served inpatients and an 8.8% decrease in the inpatient surgical procedures. The monthly volume of CEAs increased (P < .001, r2 = 0.78) at the onset of the fiscal year (October 1994) immediately after the Asymptomatic Carotid Atherosclerosis Study clinical advisory. The volume of CEAs increased in every region of the country for all nonpsychiatric hospital classifications and for almost every surgeon subspecialty. Despite the increased volume, the operative mortality rate, the International Classification of Diseases, Ninth Revision, Clinical Modification--and patient management categories--based complication rates, and the patients' comorbidity and severity of illness indexes all remained unchanged. CONCLUSION: The dramatic increase in CEAs following the Asymptomatic Carotid Atherosclerosis Study clinical advisory suggests that the conclusions of the trial have been accepted by the medical community throughout the Veterans Affairs medical centers.

Adult↗

PubMed1997

The clinic-specific thesaurus: a means of "lean documentation" in pediatric surgery.

A one-hundred percent documentation rate of diagnoses and patient data is unfeasible and should not be pursued. Therefore, a "lean documentation" of diagnoses and basic patient data was introduced. Coding is done by a clinic-specific list of diagnoses (thesaurus) with a minimum of diagnostic codes, combined with optional free text. By recording the frequency of diagnoses for two years, a thesaurus of 188 diagnostic codes was developed. Bedside coding by treating physicians reduced medical and semantic mistakes of documentation. Cooperation of the clinicians was obtained by shortening the time required for coding to less than two minutes per patient. A documentation assistant supplemented incomplete data in collaboration with the treating surgeons. During a ten-year testing period 93.7% of the hospital-specific codes of our thesaurus were required for documentation, as compared to 13.1% if the same patients were coded by ICD-9. Consequently, coding by a clinic-specific code thesaurus is quick flexible and accurate.

Child↗

PubMedDate not supplied

Managing meningococcal disease in the United States: Hospital case characteristics and costs by age.

OBJECTIVE: Meningococcal disease occurs worldwide. Approximately 1400 to 2800 cases are reported in the United States annually. The goal of this analysis was to examine hospitalized cases of meningitis and meningococcemia to identify case characteristics, resource use, and inpatient care costs. METHODS: International Classification of Diseases-9th Revision-Clinical Modification diagnosis codes 036.0-036.9 were used to identify cases from roughly 1000 hospitals in four all payer state discharge databases. Multiyear data (1999-2001) were examined to identify demographics, admission month, health service utilization, and hospital costs by age group: infant (<1 years), children (1-10 years), adolescent (11-17 years), young adult (18-22 years), adults (23-49 years), and adults (> or =50 years). Cost estimates include accommodations, ancillary and physician services, reported in 2003 US dollars. RESULTS: Of 1654 cases of meningococcal disease identified, meningococcemia was coded for 51%. Adults accounted for 33% of the cases. The highest rate of admissions occurred from January through March and 62% were admitted via the Emergency Department. Inpatient case fatality rate was 6.4%; 71% of those who died had meningococcemia. The mean length of stay was 9 days. Of survivors, 91% were discharged home (1% with intravenous medications and 11% with other home health-care services) while 7% required further subacute inpatient care. The average cost per hospitalization was estimated at 23,294 dollars per patient. Infants had the lowest average cost per stay (16,793 dollars) and adolescents had the highest (28,202 dollars). CONCLUSIONS: The presence of meningococcemia results in a greater death rate, longer length of stay, and increased care costs. Meningococcal disease has substantial economic, as well as profound clinical consequences for patients of all ages.

Adolescent↗