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PubMed1993

Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel.

A screening program for the detection of Tay-Sachs disease (TSD) carriers in the ultra Orthodox community of Ashkenazi Jews has operated in Israel since 1986. The purpose of this program is the prevention of marriages of 2 heterozygotes. The screened individuals are mostly couples in the engagement process or students in religious high schools. Two mandatory requirements guide this program. First, anonymity of the tested individuals who are identified only by code numbers; second completion of the test results of couples in the engagement process within a few days. The screening program is performed by the determination of hexosaminidase A (Hex A) activity in serum which is repeated in serum and leukocyte extracts in couples where both partners were found in the heterozygote range in the initial tests. The minimal carrier frequency was estimated to be 1:26 or higher, which is higher then in the general Jewish Ashkenazi population. This higher carrier frequency apparently stems from the fact that most members of this community originate from central Europe where the TSD carrier frequency was previously reported to be the highest in the Ashkenazi population. Since the beginning of the screening program no TSD child has been born to newlywed couples of this community in Israel.

Anonymous Testing↗
PubMed2002

Cough provocation tests: their clinical value.

Cough provocation testing was originally developed for testing new anti-tussive agents and still remains a mandatory tool in their development. The methodology has been developed into single breath and multiple breath techniques. Neither has been fully validated; however, single breath techniques have been used in a number of patient series of more than 100 patients. These studies show that the cough reflex is more sensitive in patients with cough and becomes normal on recovery. Studies in the common cold and in angiotensin converting enzyme inhibitor-associated cough suggest that this may be cause and effect. These results point to a utility for cough provocation testing in epidemiology but not in routine clinical practice. The one exception in clinical practice is in the assessment of patient post stroke where it is a better method, than voluntary cough testing, for assessing damage to the cough reflex. Other than use in epidemiology it remains an invaluable tool in hypothesis testing.

Cough↗
PubMed1981

[Chemotherapy of esophageal and cardial carcinomas].

In esophageal carcinoma chemotherapeutic agents such as bleomycin, methotrexate, cisplatin, VP-16, and vindesine produce remission rates up to 30%. Combination chemotherapy resulting in remission rates of about 50% has so far been insufficiently tested. Selection of patients with favorable prognostic criteria is mandatory for optimal treatment results. A combined modality approach is promising but needs further evaluation. The FAM regimen is recommended for the routine treatment of inoperable stomach carcinoma. The specific problems of upper gastrointestinal tract cancer chemotherapy are discussed.

Antineoplastic Agents↗
PubMed2007

[Risk communication through genetic counselling: requirements and problems].

Genetic counselling is the single most important instrument for the individual communication of genetic risks. Beyond medical and psychosocial purposes in terms of preparing diagnostic measures and coping with results, genetic counselling also serves as a means to ensure the clients' decision autonomy through adequately informed consent. Accordingly, indispensable preconditions of the counselling process are voluntariness, individuality, non-directiveness, and respect of the right not to know. However, the requirement that any genetic diagnosis should be embedded into genet ic counselling is all too often neglected in today's reality of medicine. Consequently, there is urgent need of legislation ensuring mandatory counselling at least before prenatal and predictive genetic testing. Additionally, clear standards must be established and enforced for the quality of the counselling process as well as for the qualification of counsellors, and sufficient personal and institutional resources must be provided.

Communication↗
PubMed2004

A rare diagnosis for a pancreatic mass: splenosis.

Splenosis, the autotransplantation of splenic tissue, has been designed to preserve organ functions after splenectomy. We present the first case of laparoscopic resection of a pancreatic splenosis, in a patient who had undergone a splenectomy 31 years before, complaining of abdominal pain and diarrhea. Abdominal computed tomography (CT) scan showed an enhancing hypervascular 3-cm solid mass in the body of the pancreas, mimicking a pancreatic cancer or a neuroendocrine tumor. A diagnostic laparoscopy was planned, and a 3-cm peripancreatic nodule with a long pedicle was visualized, with many nodules close to the tail of the pancreas and in the greater omentum. They were all resected, and the specimens obtained were immediately sent for frozen-section examination, which confirmed the diagnosis of heterotopic splenic tissue. Splenosis should be included in the differential diagnosis of the pancreatic masses in patients with previous splenic surgery. A hypervascular mass on CT scan should be regarded as an adenocarcinoma of the pancreas until proven otherwise. The possibility of a neuroendocrine tumor mandates an octreotide scan and gastrointestinal hormones dosage. In the unlikely event that all tests may produce equivocal results, a diagnostic laparoscopy is mandatory, in order to obtain an accurate histopathologic diagnosis.

Diagnosis, Differential↗
PubMed1984

[Improvement of proximal interphalangeal flexion of the 5th finger in wounds or avulsions of the flexor profundus tendon].

The flexor superficialis of the little finger alone is frequently unable to provide good flexion of the PIP joint. This was verified in half of the hands tested in 45 normal volunteers. These data stress the mandatory repair of the flexor profundus tendon in emergency situations. In secondary reconstruction the authors advocate a side-to-side anastomosis between the sublimis and profundus tendons in order to reinforce the flexion of the PIP joint.

Finger Joint↗
PubMed1999

Standardization of prothrombin time for laboratory control of oral anticoagulant therapy.

Laboratory monitoring of oral anticoagulants is mandatory to ensure efficacy and safety of therapy. The test of choice is the prothrombin time (PT), using thromboplastins, which vary markedly in respect of the defect induced by oral anticoagulants. Standardization is improved by the use of the WHO calibration model for thromboplastins. This system defines the International Sensitivity Index (ISI) of a reagent in relation to a reference material. This is then used together with a locally determined mean normal PT to derive the International Normalized Ratio (INR). There is an inverse relationship between sensitivity and ISI, the lower the ISI the greater is the sensitivity of the reagent. There are important practical advantages to using a sensitive reagent with ISI of 1.2 or less. The ISI system was originally designed for manual tests and in some cases the ISI is influenced by the use of coagulometers, which generally have the effect of lowering the ISI. For this reason the ISI should be assigned for the combination of reagent and endpoint detection system. A thromboplastin should not be used with techniques for which the ISI is unknown. In some instances there is variation between instruments of the same type, in which case a local calibration using plasma calibrants with assigned values can be considered. The precise requirements for such local calibrations are presently the subject of research in a number of centers. The INR/ISI system is increasingly being adopted in many countries for anticoagulant therapy. Some past difficulties leading to discrepancies between results with different reagents have now been resolved and the view that this is the best available system for standardization of the PT for monitoring oral anticoagulants is widely held.

Administration, Oral↗
PubMed1987

An epidemic of hepatitis A in an institution for young children.

A common-source epidemic of hepatitis A occurred in an Athenian institution boarding 38 children (mean age 4.8 years). All children were examined, and blood was drawn from each at the onset of the study and repeatedly during the next three months. Only one child (2.6%) was initially immune to hepatitis A virus as a result of prior infection. The attack rate (62.2%) and the ratio of icteric to anicteric cases (1:1.3) were high despite the administration of immunoglobulin (IG). Assays for anti-HAV IgM and a rising titer of anti-HAV IgG identified 19 (82.6%) and 22 (95.7%) of the 23 hepatitis A infections, respectively. One case (4.3%) was detected only by the presence of hepatitis A virus antigen and hepatitis A virus RNA in a fecal specimen, but these assays were otherwise marginally useful in this study. Nevertheless, the use of all available tests for the detection of hepatitis A virus is mandatory for the most accurate estimation of an epidemic of hepatitis A. Prompt administration of immunoglobulin had no effect on the number of clinical cases that were in the late incubation period, but it may have diminished the clinical expression of the infection and thus made diagnosis of infection more difficult.

Child↗
PubMed1985

Maintaining quality of care while reducing charges in the ICU. Ten ways.

We believed that the dilemma of controlling costs yet maintaining quality of care might be approached in 10 ways designed to improve efficiency of care: principles of management, elimination of standing orders, classification of patients, written guidelines, mandatory communication, no repetitive orders, single order for single test, removal of monitoring catheters, constant administrative attention, and feedback. We monitored quality of care using the therapeutic intervention scoring system (TISS), mortality, utilization of bed days in the ICU, and the total hospitalization of 50 patients treated in April 1983 and, 8 months after the interventions, 50 patients treated in February 1984. There were no differences in the patient population, severity, outcome, or days. The total lab bills were $10,000 in 1983 and $6300 in 1984 (p less than 0.01). The total number of tests decreased by 2803 (42%) from 6685 to 3882, or 56 per patient per admission. Calculated ICU laboratory charges per patient decreased $3226 (53%) from $6210 to $2894. In 1983, while patients spent 15% of their hospital days in the ICU, they accumulated 61% of their total laboratory charges. In 1984, ICU days were 19% and ICU laboratory charges were 46% of the total. If the decrease of $3226 per patient is extrapolated to a year's population, this would decrease charges by over $2,000,000 in one 12-bed surgical ICU.

Clinical Laboratory Techniques↗
PubMed2002

Chronic obstructive lung diseases and occupational exposure.

The scope of this review is to highlight important and interesting articles in the field of the epidemiology of chronic obstructive pulmonary disease and occupational exposure. Relevant information from the literature published within the past year, either on general population samples or on workplaces, indicates that a substantial proportion of asthma and chronic obstructive pulmonary diseases are work related. Methods of investigation include self-reported or interview-obtained questionnaires, job title and job exposure matrix, as well as voluntary or mandatory notifications. Furthermore, data on lung function and immunological tests are available. Specific settings and agents are quoted that have been indicated or confirmed as being linked to chronic obstructive pulmonary disease. In conclusion, occupational exposure to dusts, chemicals and gases will be considered an established, or supported by good evidence, risk factor for chronic obstructive pulmonary disease. The implications of this substantial occupational contribution to asthma and chronic obstructive pulmonary disease must be considered in research planning, in public policy decision-making, and in clinical practice.

Asthma↗
PubMed2006

The diagnosis of asthma using a self-questionnaire in those suffering from allergic rhinitis: a pharmaco-epidemiological survey in everyday practice in France.

BACKGROUND: All recent guidelines recommend a search for asthma utilizing both specific interrogation and pulmonary function tests in patients suffering from allergic rhinitis. Although the mandatory place of spirometry has not been confirmed, a self-questionnaire containing nine specific questions on asthma symptoms in different daily life situations was found to be capable of discriminating asthmatics from nonasthmatics in a rhinitic population. OBJECTIVE: We addressed the questions of prevalence of asthma using a validated self-questionnaire and what might be the risk factors of being asthmatic according to that specific self-questionnaire. METHODS: Between April 2003 and September 2004, nearly 12,000 rhinitis patients were enrolled by more than 2300 physicians (78% general practitioners, 22% ear nose and throat specialists). Patients were consulting for an exacerbation of chronic rhinitis and did not have a previous diagnosis of asthma. Both doctors and patients filled out a specific questionnaire on rhinitis and asthma. RESULTS: Almost 30% of the patients had at least three positive answers to the self-questionnaire and could possibly be considered as asthmatics. We found five independent clinical risk factors for having >or=3 positive answers to the self-questionnaire. Severity of rhinitis (moderate-severe vs mild, OR=1.84; 95% CI=1.68-2.00), diagnosis of allergy (yes vs no) (OR=1.86; 95% CI=1.68-2.00), body mass index ( 30) (OR=0.51; 95% CI=0.39-0.66), type of rhinitis (persistent vs intermittent) (OR=1.25; 95% CI=1.15-1.37), and patient age ( 47) (OR=0.73; 95% CI=0.65-0.80). CONCLUSION: Asthma symptoms are frequent in rhinitics without a prior history of asthma. Several variables were shown to be predictive of asthma in these patients.

Adult↗
PubMed2001

Clinical manifestation of HIV-related pulmonary hypertension.

In recent years, much more thought has been given to the pathogenic role of HIV and to the clinical manifestations of HIV-related pulmonary hypertension (HRPH), which currently represents one of the most severe events during HIV disease. HRPH occurs in early and late stages of HIV infection and does not seem to be related to the degree of immune deficiency. Many of the symptoms in HRPH result from right ventricular dysfunction: the first clinical manifestation is effort intolerance and exertional dyspnea that will progress to the point of breathlessness at rest. The diagnosis of HRPH can be made only after all etiologies for pulmonary hypertension have been excluded. Echocardiography has been proven to be an extremely useful tool for diagnosing HRPH, and Doppler echocardiography can be used to estimate systolic pulmonary artery pressure and to monitor the effects of therapy. Assessment of hemodynamic measures by catheterization remains, however, the best test for evaluating response to therapy. Cardiac catheterization is mandatory to characterize the disease and exclude an underlying cardiac shunt as etiology. Vasodilators have been extensively used in the treatment of pulmonary hypertension, since vasoconstriction is a determinant characteristic of this disease. However, HRPH remains a progressive disease for which treatment is often unsatisfactory and there is no cure. As new, more efficient antiretroviral treatment are introduced, clinicians should expect to encounter an increasing number of cases of pulmonary hypertension in HIV+ patients in the future.

HIV Infections↗
PubMed2000

[Tuberculosis in Norwegian children--diagnostic challenges].

BACKGROUND: Each year, 20-25 Norwegian children below the age of 18 are diagnosed with tuberculosis in Norway. MATERIAL AND METHODS: As a demonstration of various difficulties in the work-up and diagnosis of tuberculosis, we present eight infected children aged 15 months to 10 years. RESULTS: Children often contract the infection from adults and may develop serious manifestations including miliary tuberculosis and meningitis. The symptoms are often not specific and tuberculosis may be mistaken for other diseases. Delay and inappropriate diagnostics may have deleterious consequences. INTERPRETATION: The main message is to start treatment upon clinical suspicion of tuberculosis. It is mandatory to sample the necessary biological material for microbiological tests before starting treatment.

Adult↗
PubMed2001

A contemporary reexamination of revenue ruling 69-545 and the promotion of health rationale for exemption.

In recent years, Revenue Ruling 69-545 has generated considerable discussion about what is necessary to satisfy the "promotion of health" standard of charitable exemption under Section 501(c)(3). This Article reviews the development of the standards of exemption applicable to nonprofit hospitals, including Revenue Ruling 56-185 and Revenue Ruling 83-157. It then provides a detailed discussion of Revenue Ruling 69-545 and sets forth the author's view on how the Ruling's factual elements should be interpreted. The author concludes that the promotion of health rationale should not be limited by treating the fact patterns of Revenue Ruling 69-545 as prescriptive of a multifaceted test of exemption, or by seeking to impose a mandatory charity care requirement as a precondition of exemption. Rather, a flexible approach to promotion of health should be embraced by the Internal Revenue Service (IRS), practitioners, and the courts.

Charities↗
PubMed2002

[Narcolepsy-cataplexy].

The diagnosis of narcolepsy-cataplexy is based on three axes: 1) the medical history is strongly suggestive when diurnal sleep attacks (narcolepsy) and drop attacks (cataplexy) are reported or observed; 2) the polysomnography is mandatory and shows nocturnal and diurnal (multiple sleep latency test) REM sleep onsets; 3) HLA typing, practically helps to exclude the diagnosis when HLA DR15-DQB1*0602 is not present. New pathogenetic hypotheses have been proposed, mostly based the absence of hypocretin in narcoleptic cerebrospinal fluid. This neurotransmitter was previously known exclusively by its involvement in alimentary behaviours. The new therapies remain symptomatic, but they are powerful to prevent somnolence, daytime sleepiness, cataplexy and insomnia associated with this syndrome.

Carrier Proteins↗
PubMed2002

Syphilitic uveitis as the initial manifestation of HIV infection.

Syphilis is an uncommon cause of uveitis in HIV-infected patients. We report a case of bilateral panuveitis and describe its characteristics as the initial manifestation of HIV infection. A 74-year-old heterosexual male complained of blurred vision and floaters in both eyes for 40 days. Slit lamp examination showed diffuse keratic precipitates and cells in the anterior chamber of both eyes. Fundus examination revealed multiple small white dots and scattered retinal hemorrhage over the mid-equatorial retina with marked vitritis. Physical examination disclosed multiple erythematous papules over bilateral palms compatible with secondary syphilis. Serologic tests--the venereal disease research laboratory (VDRL) test, fluorescent treponemal antibody absorption (FTA-ABS) test, and Treponema pallidum hemagglutination (TPHA) test--were all positive. Aqueous fluid also showed positive FTA-ABS reaction. Under the impression of acquired secondary syphilis, enzyme-linked immunosorbent assay and Western blot test were performed and revealed concurrent HIV infection. After intravenous administration of penicillin-G, 18 million units daily for 2 weeks, the vitritis and retinochoroiditis improved. All patients with panuveitis of unknown cause should undergo VDRL and FTA-ABS screening. Subsequent testing for HIV antibody in leutic uveitis is also mandatory.

Aged↗
PubMed2004

Fever of unknown origin: keys to determining the etiology in older patients.

In light of improvements in imaging modalities and laboratory tests, fewer cases of fever of unknown origin (FUO) are being attributed to infectious causes and more are eventually being diagnosed as secondary to noninfectious causes, particularly tumors and connective tissue diseases. Older patients with FUO usually present with mild, nonspecific, normochromic, and normocytic anemia and an elevated erythrocyte sedimentation rate. The history, physical examination, and imaging studies are key to making a diagnosis. Although the results of laboratory tests are generally nonspecific, such tests are appropriate nonetheless. Obtaining repeat blood cultures is mandatory. However, before undertaking a diagnostic evaluation of geriatric FUO, it is important to consider the patient's overall health. In certain circumstances, it is more important to maintain a patient's quality of life than it is to initiate the process of identifying and treating a persistent fever. The work-up and treatment should not be worse than the disease.

Aged↗
PubMed2005

Evaluation of a new enzyme-linked immunosorbent assay for the determination of neopterin.

BACKGROUND: Determination of neopterin especially evaluated for use on the Behring ELISA Processor BEP III highly suited for the demands of blood donation screening in blood banks. METHODS: A new commercially available enzyme-linked immunosorbent assay (ELISA) was developed for the detection of neopterin, a low-molecular-mass pteridine. Neopterin is produced by interferon-activated macrophages or monocytes during the activation of the cellular immune system in various diseases. In Austria testing of neopterin to detect cellular immune activation is mandatory since 1995. The former assay version has been used for the measurement of neopterin at the Medical University Graz. As a result of the cooperation with the blood bank in Graz and the Dade Behring company we have developed a new ELISA kit based on a special coating procedure. For comparison we performed measurements with the current IBL Neopterin ELISA version, the HPLC method and with the ELItest Neopterin ELISA (BRAHMS). The new assay is based on a simple assay procedure with two incubations of 1 h and of 30 minutes. RESULTS: Linear regression analysis showed a significant correlation to the HPLC method. The assay is accurate and precise. CONCLUSIONS: The above mentioned neopterin assay as an alternative method to other ELISA kits and the HPLC is highly suited for automation and was especially evaluated as a simple, rapid and reproducible version for the Behring ELISA Processor BEP III during this study.

Blood Donors↗