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Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy.

Hereditary deficiency of prothrombin is a rare autosomal recessive bleeding disorder, with severe bleeding diathesis in homozygotes, but rarely resulting in intracranial haematoma. We describe two infants of consanguineous parents, presenting with acute subdural haematoma. Because such haematomas in infancy are highly indicative of trauma caused by child battering and because the socio-economic status of the family was unstable, there was a suspicion of child battering. However, further investigations revealed a bleeding diathesis due to a prothrombin deficiency. DNA analysis of the prothrombin gene showed homozygosity for a novel mutation, substituting Lys for Glu at codon 7 and resulting in decreased specific clotting activity. We discuss the probability of bleeding diathesis versus child battering in the aetiology of intracranial haematoma.

Battered Child Syndrome↗

The macroeconomic context of job stress.

Using data from the 1973-1977 Quality of Employment Panel Study, we test a model that conceptually links research on macroeconomic causes of stress with research on job structure causes of stress among employed workers. Results from LISREL 7 (Jöreskog and Sörbom 1989) indicate that, while both macroeconomic and job structure variables have significant cross-sectional and longitudinal effects on stress, the macroeconomic effects are almost entirely indirect in their effect on job structures. In particular, higher occupational unemployment rates increased stress and lowered life satisfaction indirectly through reduced decision latitude and increased job demands. Overall, results suggest that macroeconomic changes, such as recessions, can affect individual stress because they lead to changes in routine job structures that represent increased and continued exposure to stressful conditions.

Adolescent↗

Testing the recession theory as an explanation for the migration turnaround.

"In this paper the so-called recession theory explanation for the decline of net migration to large metropolitan core areas of industrialized countries is tested with an econometric time-series model. In the explanation it is contended that the migration turnaround represents only a temporary fluctuation in the general trend of urban economic and demographic spatial concentration, caused by the business cycle downturns of the 1970s. Our results show that the migration turnaround cannot be attributed exclusively to these business cycle fluctuations. For many of the countries tested, the business cycle operated simultaneously with other factors suggested as explanations for the turnaround. We conclude that several explanations should be combined to build a theory of the migration turnaround."

Demography↗

Experts offer differing views on the impact of a recession.

What are the risks of a prolonged recession for hospitals? Although health care would probably not be hurt as much as other industries by a lengthy downturn, financial experts are saying a continuation of the current soft economy would add to hospitals' already long list of financial woes. The coming recession "will exacerbate the problems for hospitals already facing fiscal stress," says Glenn Wagner, an investment banking consultant based in New York City.

Capital Financing↗

The 1990-91 recession: impact on health care.

The Persian Gulf war is over. The U.S. economy is experiencing some signs of relief from the recession. However, it's too soon for health care executives to forget these events. Their effects on health care will be felt for some time to come.

Health Expenditures↗

Description and physical localization of the bovine survival of motor neuron gene (SMN).

Proximal spinal muscular atrophy (SMA) is an autosomal recessive disease in humans and other mammals, characterized by degeneration of anterior horn cells of the spinal cord. In humans, the survival of motor neuron gene (SMN) has been recognized as the SMA-determining gene and has been mapped to 5q13. In cattle, SMA is a recurrent, inherited disease that plays an important economic role in breeding programs of Brown Swiss stock. Now we have identified the full- length cDNA sequence of the bovine SMN gene. Molecular analysis and characterization of the sequence documents 85% identity to its human counterpart and three evolutionarily conserved domains in different species. Physical mapping data reveals that bovine SMN is localized to chromosome region 20q12-->q13, supporting the conserved synteny of this chromosomal region between humans and cattle.

Animals↗

On the "efficiency" of managed care plans.

The claim that managed care plans are more efficient than fee-for-service plans has been made so often that it has reached the status of folklore, but the evidence is inconclusive. The claim is usually based on one or both of the following errors: (1) lower medical care costs mean lower total costs (medical plus administrative costs) and (2) lower HMO premiums mean HMOs are more efficient than fee-for-service plans. The first assertion ignores evidence indicating that managed care has driven up administrative costs for both insurers and providers. The second ignores evidence that managed care plans have numerous methods of shifting costs that are unavailable or less available to fee-for-service plans. The lull in health care inflation during the mid-1990s is often cited as evidence that managed care is efficient. But the lull may have been caused not by the spread of managed care but by the near-simultaneous occurrence of four events: a downturn in the insurance underwriting cycle, the 1990-1991 recession, endorsement of managed competition by numerous politicians, and the merger fever triggered by those endorsements.

Cost Allocation↗

Vestibular surgical access to the palatine root of the superior first molar: "low-dose cone-beam" CT analysis of the pathway and its anatomic variations.

Apicoectomy of the superior first molar palatine root until recently involved relatively destructive and laborious surgery because of the palatal access route, which not only necessitates an extensive flap, but also the readying of procedures required to deal with a possible hemorrhage from the palatine artery. With the advent of operative microscopy, endodontic surgery has become more precise and less invasive and its technical potential has increased; a possible innovative surgical technique may entail vestibular root access. The possibility of using low-dose, low-cost computed tomography (CT) dedicated to the jaw to obtain anatomic information to plan apicoectomy via the vestibular approach was evaluated; 31 patients were referred to CT with the NewTom apparatus. In 43 superior first molars, the mean distance of the palatine root from the external vestibular cortex was measured, and the frequency that the maxillary sinus lateral recess lay between the roots was determined. The mean root apex-vestibular cortex distance was 9.73 mm. In 25% of cases the maxillary sinus recessus lay between vestibular and palatine roots. CT may play an important role in optimizing palatine root apicoectomy through vestibular access, with regard to precision and preventing complications, with relatively low biological and economic cost, also possibly contributing to the affirmation of this new surgical procedure.

Adolescent↗

Laparoscopic r/evolution: impetus to a new understanding of surgery.

The history of the development ofthefine art of physical examination is a record of the physician's efforts to pry ever deeper and deeper into the inner recesses of his patients (H. V.Findlay, 1937).The Iaparoscopic revolution or evolution caught the surgical field by surprise. Just a few years earlier, the term "endoscopic surgery" was not part of the vocabulary of most surgeons. As with all breakthroughs, the incorporation of laparoscopy into surgery posed its own set of challenges, including: (1) the growing significance of economic factors, (2) increasing pressure from industry, (3) a shift from the hospital to out-patient settings, (4) a different approach to surgical training, (5) changes in the surgeon-patient relationship, and (6) a range of ethical issues.

Journal Article↗

Exclusion/confirmation of ataxia-telangiectasia via cell-cycle testing.

Ataxia telangiectasia (AT) is an autosomal recessive multisystem disorder with increased radiosensitivity and cancer susceptibility. The responsible gene (ATM) consists of 66 exons and a coding region of 9171 bp which precludes direct sequencing as a screening assay for confirmation or exclusion of the clinical suspicion of AT. Peripheral blood mononuclear cells of 330 patients referred for the exclusion of AT were exposed to ionizing radiation (IR) and incubated for 72 h in the presence of phytohemagglutinin. Using bivariate BrdU-Hoechst/ethidium bromide flowcytometry, the following cell cycle parameters were ascertained: (1) proportion of non-proliferating (G0,G1) cells as a measure of mitogen response, (2) proportion of first-cycle G2-phase cells relative to the growth fraction (G2/GF) as a measure of radiosensitivity. Of the cases tested, 94.2% could be unequivocally assigned either to the AT-negative or the AT-positive group of patients. Of the AT-positive cases, 11 were confirmed by ATM mutation analysis. Nineteen cases presented with non-conclusive results, mostly due to poor mitogen response; however, a combination of cell-cycle data with serum AFP concentrations led to the exclusion of AT in all but two of the uncertain cases. Substitution of ionizing radiation by the radiomimetic bleomycin was additionally tested in a small series of patients. We conclude that cell-cycle testing complemented by serum AFP measurements fulfills the criteria as a rapid and economical screening procedure for the differential diagnosis of juvenile ataxias.

Adolescent↗

Capital financing in an uncertain future.

A critical test of the hospital's ability to survive will be its ability to raise capital in private debt markets as traditional funding sources (philanthropy and government) continue to shrink. This article assesses the impact of inflation and recession on hospital capital financing and investment, describes what a commercial banker looks for in evaluating a hospital's ability to borrow, and suggests a role for trustees in meeting the hospital's capital needs.

Capital Financing↗

The implications of work organization for occupational health policy: the case of Canada.

This article examines occupational health and safety developments in Canada during the decade of the 1970s when most government jurisdictions replaced former factory Acts with new health and safety legislation recognizing the right of workers to be involved in work environment matters. During the latter part of the 1970s, health and safety "activists" and trade unionists began to perceive the need for a wider conception of occupational health and safety. Canadian reformers were influenced by Scandinavian developments, especially the research of Dr. Bertil Gardell and his associates. Unfortunately, during the late 1970s Canada experienced a recession and a political shift to conservatism. Consequently, during the 1980s there have been no meaningful workplace health and safety reforms. Further, the article suggests that there is strong resistance by management and government to extension of worker rights in occupational health and safety. All major political parties ground their work environment policies in utilitarian concepts that trade worker health and safety for economic considerations. The author, therefore, argues for the development of an "ethics of the work environment" based upon egalitarian principles, and the transformation of the primary work group into a community of workers who can shape the character of their work environment. Ideally, the relationship between the major "actors" in our industrial relations system ought to be based on obligation instead of the present language of worker protest based on rights. Nonetheless, there is a need to extend and deepen worker rights in the workplace. Finally, the author argues that the appropriate relationship in industry to reflect a democratic work environment is "partnership"--the coming together of the primary work groups as equals.

Accident Prevention↗

Margins drop in first quarter as admissions decline sharply.

The recession has had a significant impact on hospital utilization, finances and staffing; all are lower than a year ago, according to the American Hospital Association. Among the worrisome benchmarks: a sharp decline in inpatient admissions in the first quarter.

Data Collection↗

Variables that underlie cost efficacy of prenatal screening.

As genetic research and technology continues to expand, carrier testing for an increasing number of single gene disorders is becoming available. Tay-Sachs disease and cystic fibrosis are two common recessive conditions with large-scale health implications. Tay-Sachs disease was the first genetic disorder for which community-based screening efforts were utilized and has provided a foundation for the development of other screening programs. Cystic fibrosis testing, on the other hand, has additional complexities and the implementation of population-based screening has been under debate. The many issues (technical, educational, social, psychological and economical) which must be considered as preconceptional and prenatal genetic screening is incorporated into clinical practice are discussed here in the context of Tay-Sachs disease and cystic fibrosis.

Cost-Benefit Analysis↗

A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep.

Ovine hereditary chondrodysplasia, or spider lamb syndrome (SLS), is a genetic disorder that is characterized by severe skeletal abnormalities and has resulted in substantial economic losses for sheep producers. Here we demonstrate that a non-synonymous T>A transversion in the highly conserved tyrosine kinase II domain of a positional candidate gene, fibroblast growth factor receptor 3 (FGFR3), is responsible for SLS. We also demonstrate that the mutant FGFR3 allele has an additive effect on long-bone length, calling into question the long-standing belief that SLS is inherited as a strict monogenic, Mendelian recessive trait. Instead, we suggest that SLS manifestation is determined primarily by the presence of the mutant FGFR3 allele, but it is also influenced by an animal's genetic background. In contrast to FGFR3 mutations causing dwarfism in humans, this single-base change is the only known natural mutation of FGFR3 that results in a skeletal overgrowth phenotype in any species.

Amino Acid Sequence↗

[Impact of the public health reform law on research and education].

The statutory health insurance reform law of 1993 had a serious impact on the management of university hospitals. Firstly, the phase of strict budget caps, new in and out patient services could only be introduced when compensated with the elimination of other services. Most universities have mastered this challenge. In the second phase, an entirely new system of hospital fees will be introduced. This will lead to a high degree of uncertainty on the financial situation of the university hospitals. The new regulation on hospital fees only insufficiently takes into consideration tertiary care hospitals. A severe loss of income has to be reckoned with. The funding of current subsidies for medical research, training, construction projects and big-ticket equipment is threatened by the fiscal budget crisis due to the current recession and the heavy financial burdens of the German reunification. Therefore fundamental reforms with regard to the statutory form, the form of ownership, the responsibilities of the university hospital, the organization of management and decision processes, the public service law and investment financing are all unavoidable.

Cost Control↗

Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model.

BACKGROUND: Understanding the etiology of birth defects is an important step toward developing improved treatment and preventive strategies. Most birth defects have an underlying genetic basis, ranging from single genes playing dominant or recessive roles in Mendelian disorders to a mixture of contributions from multiple genes and environmental triggers in complex traits. The purpose of this article is to provide an overview of genetic approaches to identifying disease genes for genetically complex birth defects. METHODS: A review of the literature describing successes and limitations for identifying disease genes for complex traits was conducted. RESULTS: Cleft lip and cleft palate are common congenital anomalies with significant medical, psychological, social, and economic ramifications. The Online Mendelian Inheritance in Man catalog (OMIM; http://www3.ncbi.nlm.nih.gov/Omim) lists more than 400 single-gene causes of clefts of the lip and/or palate. Genetic causes of clefting also include chromosomal rearrangements, genetic susceptibility to teratogenic exposures, and complex genetic contributions of multiple genes. CONCLUSIONS: Genetic causes of birth defects can be identified using an increasingly powerful combination of careful sample collection, molecular analytic methods, and statistical evaluations. We will describe a range of approaches to search for genetic factors of birth defects and use our own work with cleft lip and palate as a model.

Chromosome Aberrations↗