Specific Diagnostic Procedures Research Articles

Association of Adenosine Deaminase Polymorphism With Mild Mental Retardation

The etiology of mild mental retardation remains undefined in about 60% of cases. Even though the causes of mild mental retardation are likely to be heterogeneous, the evidence for genetic involvement is increasing, along with the development of specific diagnostic techniques. To improve our understanding of the genetic basis of mild mental retardation, we explored the role of polymorphisms of adenosine deaminase, an enzyme that is supposed to act as a neuroregulatory protein. To this end, we conducted an association study comparing children with mild mental retardation of unknown origin with two groups of controls: (1) apparently healthy children and (2) children with moderate or severe mental retardation of known etiology. Overall, 338 participants were enrolled in the study. Cases (ie, 80 children) were more likely than controls (ie, 153 healthy children and 105 children with moderate or severe mental retardation) to have the low-activity ADA-Asn 8 (ADA(1) *2) polymorphism (P < .05) and to present the ADA(1) *2/ ADA(2) *1 haplotype. No significant differences were found with respect to adenosine deaminase polymorphisms when comparing the group with moderate or severe mental retardation of known causes and healthy controls. In conclusion, our findings suggest a possible role for a low-activity genotype (ADA-8Asn) (ADA(1) *2) of adenosine deaminase in the pathogenesis of mild mental retardation.

Production and characterization of polyclonal antibody against recombinant ORF 049L of rock bream ( Oplegnathus fasciatus) iridovirus

Rock bream iridovirus (RBIV) is a causative agent of epizootics among cultured rock bream ( Oplegnathus fasciatus) in Korea. The structure of the isolated RBIV was observed by an electron microscope, and the virus particles were icosahedral and 120–130 nm in diameter. From the complete genomic DNA sequence of RBIV, the protein encoded in ORF 049L (RBIV-049L) was selected and the property of protein was evaluated with the transmembrane sequence TMHMM 2.0 tool. The ORF 049L gene of RBIV (RBIV-049L) was cloned into pGEX-4T-1 expression vector. The recombinant RBIV-049L was overexpressed in Escherichia coli BL21 (DE3) as a fusion protein (GST-049L, 42 kDa) with a glutathione S-transferase. Antiserum against this recombinant GST-049L protein was prepared in mouse. Dot blot analysis was carried out to identify the reaction abilities and sensitivity of anti-RBIV-049L polyclonal antibody to RBIV-infected rock bream with enzyme linked immunosorbent assay (ELISA) and one-step PCR. These novel RBIV-049L protein and anti-RBIV-049L polyclonal antibody will facilitate the development of more specific and standardized diagnostic techniques.

Clinical features and pitfalls in the laboratory diagnosis of dengue in travellers

BackgroundSeveral enzyme-linked immunosorbent assay (ELISA)-kits are commercially available for the rapid diagnosis of dengue infection, and have demonstrated good sensitivity and specificity in paired serum samples. In practice, however, often only one blood sample is available from febrile travellers returning from dengue endemic areas.MethodsTo evaluate the diagnostic value of positive dengue antibody-titres performed by a standard ELISA (PanBio IgM- and IgG-ELISA) in single serum samples (regarded as "probable infection"), 127 positive samples were further analyzed using envelope/membrane IgM-, and nonstructural protein 1 IgM- and IgG-ELISAs, immunofluorescence assays, and real-time reverse transcription polymerase chain reaction assays (RT-PCR). A combination of the test-results served as the diagnostic "gold standard". A total of 1,035 febrile travellers returning from dengue-endemic countries with negative dengue-serology and RT-PCR served as controls to compare clinical and haematological features.ResultsOverall, only 64 (positive predictive value = 50%) of the probable cases were confirmed by additional analysis and 54 (42.5%) were confirmed to be "false-positive". Rash was the only clinical feature significantly associated with confirmed dengue fever. The combination of thrombocytopenia and leucopenia was present in 40.4% of confirmed and in 6.1% of false-positive cases. Thus, the positive predictive value for the combination of positive PanBio-ELISA plus the two haematological features was 90.5%.ConclusionThe examination of paired serum samples is considered the most reliable serodiagnostic procedure for dengue. However, if only one blood sample is available, a single positive ELISA-result carries a high rate of false-positivity and should be confirmed using a second and more specific diagnostic technique. In the absence of further testing, platelet and white blood cell counts are helpful for the correct interpretation.

Aktuelle Diagnostik des kutanen Lupus erythematodes

Cutaneous lupus erythematosus (CLE) is a disease with different subtypes and the new classification system includes acute CLE (ACLE), subacute CLE (SCLE), chronic CLE (CCLE), and intermittent CLE (ICLE). The broad spectrum of skin involvement and the possibility of systemic organ manifestations at the beginning and during the course of CLE require specific diagnostic procedures. Clinical assessment of the cutaneous manifestations is necessary along with a detailed patient's history. The diagnosis of CLE is confirmed by histopathology and immunofluorescence microscopy. Selective laboratory screening and additional diagnostic procedures depending on clinical symptoms are recommended. Photoprovocation tests can be performed to assess photosensitivity in patients with CLE and to support the diagnosis. Recently, a scoring system for the activity of the cutaneous manifestations in CLE has been developed and is now evaluated in several clinical studies. In this review, the classification and the characteristic clinical criteria of the different CLE subtypes as well as the current diagnostic possibilities are emphasized.

Voice Research and Treatment in the Czech Republic

Voice Research and Treatment in the Czech Republic

Estimation and control of multiple testing error rates for microarray studies

The analysis of microarray data often involves performing a large number of statistical tests, usually at least one test per queried gene. Each test has a certain probability of reaching an incorrect inference; therefore, it is crucial to estimate or control error rates that measure the occurrence of erroneous conclusions in reporting and interpreting the results of a microarray study. In recent years, many innovative statistical methods have been developed to estimate or control various error rates for microarray studies. Researchers need guidance choosing the appropriate statistical methods for analysing these types of data sets. This review describes a family of methods that use a set of P-values to estimate or control the false discovery rate and similar error rates. Finally, these methods are classified in a manner that suggests the appropriate method for specific applications and diagnostic procedures that can identify problems in the analysis are described.

Mycoplasma pneumoniae‐associated myelitis: a comprehensive review

Myelitis is one of the most severe central nervous system complications seen in association with Mycoplasma pneumoniae infections and both acute transverse myelitis (ATM) as well as acute disseminated encephalomyelitis (ADEM) have been observed. We reviewed all available literature on cases of Mycoplasma spp. associated ATM as well as ADEM with dominant spinal cord pathology and classified those cases according to the strength of evidence implicating M. pneumoniae as the cause. A wide range of data on diagnosis, epidemiology, immunopathogenesis, clinical picture, laboratory diagnosis, neuroimaging and treatment for this rare entity is presented. The use of highly sensitive and specific molecular diagnostic techniques may assist in clearly elucidating the role of M. pneumoniae in ATM/ADEM syndromes in the near future. Immunomodulating therapies may have a role in treating such cases.

Lateral osteoarthritis of the knee

This thesis aimed to study osteoarthritis (OA) of the knee and its subgroup with lateral wear (valgus knees). Anatomy, kinematics and kinetics (movements and moments) of the hip and knee joint and the sensitivity and specificity of diagnostic procedures were evaluated. Our hypothesis was that there are biomechanical reasons for development of either lateral or medial OA. The wear pattern of the tibial plateau and the femoral condyles was delineated in 42 patients. The diagnostic accuracy of standing knee radiographs was validated in 34 and reproducibility and validity of the Ahlbäck classification was studied in 48 patients. The Influence of working conditions or gender on the prevalence of uni or bilateral knee OA was evaluated in 990 patients from 2 hospitals (Varberg and Halmstad) operated during 1985-1994 with knee arthroplasty or proximal tibial osteotomy. For each patient, 3 age- and gender-matched controls were found. Studies of the anatomy of the hip and pelvic regions and the motions and moments in the hip and knee in medial and lateral OA were performed. The detailed kinematics of the knee during active extension in lateral OA were recorded using dynamic radiostereometry (RSA). In both medial and lateral OA the central part of the tibial plateau showed the most pronounced wear (p<0.001), followed by the anterior part in medial OA (p=0.02) and the posterior part in lateral OA (p=0.001). In medial OA the observed difference between the 2 radiographic methods was small and acceptable (median; p=0.05; 0-0.5 mm). In lateral OA there was no consistent underestimation, but larger scatter (median; p=0.04; -0.1-1.2 mm) suggesting less precise determination. The repeatability of the Ahlbäck classification for one observer was fair (kappa: medial OA: 0.15-0.65; lateral OA: 0.59-0.76), but between observers it was poor (kappa: 0.1). The validity revealed an acceptable sensitivity in both medial (67-95%) and lateral (43--86%) OA but the specificity was low (medial: 11-67%; lateral: 25-75%). Farmers (RR: 1.7; p<0.0005) and building workers (RR: 1.4; p=0.047) run increased risk to undergo surgical treatment because of OA of the knee. Unilateral disease was 3.7 times more common among men. Patients with lateral knee OA had a 14 mm wider pelvis (p=0.001) and those with medial knee OA an 11 mm higher offset (p=0.005). In the gait analysis they showed more outward rotation of the hip (p=0.001) and more inward rotation of the tibia than did patients with medial OA (p=0.001). In lateral OA, the medial femoral condyle translated 7-8 mm forward with 450 flexion whereas controls translated 4 mm less (p=0.03), without any difference of the lateral femoral condyle. Conventional radiographs do not give sufficient information for correct grading, especially in lateral OA where the scatter is high. The joint space can often be seen on radiographs despite presence of bone attrition as observed on the preparations. Increased incidence of unilateral disease in men and building workers suggests that this joint disease more commonly originates from previous trauma. Our findings suggest that the occurrence of medial or lateral OA has a biomechanical background originating from pelvis and hip anatomy.

Diagnostic and Therapeutic Strategy for Acute Pulmonary Thromboembolism

The diagnostic and therapeutic strategy for acute pulmonary thromboembolism (APTE) was published by the Japanese Circulation Society. But in Japan, there has been no report on how to improve the pre-test probability in APTE-suspected cases, to determine a practically available diagnostic strategy, nor has been a report that compares diagnostic methods and therapies for APTE by decision analysis. APTE was found in 66.7% before using diagnostic imaging techniques. Compared with the absence of APTE, prolonged immobilization, cancer, tachycardia, unilateral leg swelling and inverted T-wave in V(1-3) were found more often in the presence of APTE. The rate of obtaining the result on the day of ordering the examination test was 100% with arterial blood gas analysis, trans-thoracic echocardiography and computed tomography (CT), 78.2% in D-dimer, 85.5% in pulmonary angiography, and 54.5% in perfusion lung scan. Decision analysis showed that the highest expected utility was anticoagulant over 0.51 in pre-test probability, with CT between 0.13 and 0.51. The pre-test probability of APTE has already been high before using specific diagnostic imaging techniques in Japan. Our results showed that the diagnostic strategy for APTE made by the Japanese Circulation Society was available in most hospitals in Japan.

Effects of a Managed Chiropractic Benefit on the Use of Specific Diagnostic and Therapeutic Procedures in the Treatment of Low Back and Neck Pain

Objective The aim of this study was to measure the effects of a managed chiropractic benefit on the rates of specific diagnostic and therapeutic procedures for the treatment of back pain and neck pain. Design This study is a retrospective analysis of claims data from a managed-care health plan over a 4-year period. The use rates of advanced imaging, surgery, inpatient care, and plain-film radiographs were compared between employer groups with and without a chiropractic benefit. Results For patients with low back pain, the use rates of all 4 studied procedures were lower in the group with chiropractic coverage. On a per-episode basis, the rates in the group with coverage were reduced by the following: surgery (−32.1%); computed tomography (CT)/magnetic resonance imaging (MRI) (−37.2%); plain-film radiography (−23.1%); and inpatient care (−40.1%). On a per-patient basis, the rates were reduced by the following: surgery (−13.7%); CT/MRI (−20.3%); plain-film radiography (−2.2%); and inpatient care (−24.8%). For patients with neck pain, the use rates were reduced per episode in the group with chiropractic coverage as follows: surgery (−49.4%); CT/MRI (−45.6%); plain-film radiography (−36.0%); and inpatient care (−49.5%). Per patient, the rates were surgery (−31.1%); CT/MRI (−25.7%); plain-film radiography (−12.5%); and inpatient care (31.1%). All group differences were statistically significant. Conclusion For the treatment of low back and neck pain, the inclusion of a chiropractic benefit resulted in a reduction in the rates of surgery, advanced imaging, inpatient care, and plain-film radiographs. This effect was greater on a per-episode basis than on a per-patient basis.

Congenital macrothrombocytopenias

Congenital macrothrombocytopenias comprise a heterogeneous group of rare disorders, characterized by abnormal giant platelets, thrombocytopenia and bleeding tendency with variable severity. Many of these disorders share common clinical and laboratory features, making accurate diagnosis difficult and patients are often misdiagnosed with and treated for idiopathic thrombocytopenic purpura. Recent progress in the elucidation of underlying defects and further developments of specific diagnostic techniques for several congenital macrothrombocytopenias have renewed our approach to the classification and the diagnosis of the disease. This review summarizes the current knowledge on the clinical and laboratory features of common congenital macrothrombocytopenias and discusses how that knowledge aids in making a proper diagnosis.

Hepatitis C in patients co-infected with human immunodeficiency virus. A review and experience of a Brazilian ambulatory

Hepatitis C virus (HCV) and human immunodeficiency virus (HIV) share the same transmission mechanisms. The prevalence of HCV in the HIV-infected population varies from region to region, throughout the world, depending on different exposure factors to both viruses. Co-infection with HIV accelerates the progression of the disease caused by HCV, appears to worsen the progression of the HIV infection and increases HCV transmission. Therefore, clinical management and treatment of HCV is a priority in medical facilities that receive HIV-infected patients. Clinical management of these patients involves specific diagnostic procedures and appropriately trained medical staff. The indication of treatment should meet specific clinical and laboratory criteria. There are a number of drugs currently available to treat hepatitis C in co-infected patients.

ATLes: The Strategic Application of Web-Based Technology to Address Learning Objectives and Enhance Classroom Discussion in a Veterinary Pathology Course

A case-based program called ATLes (Adaptive Teaching and Learning Environments) was designed for use in a systemic pathology course and implemented over a four-year period. Second-year veterinary students working in small collaborative learning groups used the program prior to their weekly pathology laboratory. The goals of ATLes were to better address specific learning objectives in the course (notably the appreciation of pathophysiology), to solve previously identified problems associated with information overload and information sorting that commonly occur as part of discovery-based processes, and to enhance classroom discussion. The program was also designed to model and allow students to practice the problem-oriented approach to clinical cases, thereby enabling them to study pathology in a relevant clinical context. Features included opportunities for students to obtain additional information on the case by requesting specific laboratory tests and/or diagnostic procedures. However, students were also required to justify their diagnostic plans and to provide mechanistic analyses. The use of ATLes met most of these objectives. Student acceptance was high, and students favorably reviewed the online ''Content Links'' that made useful information more readily accessible and level appropriate. Students came to the lab better prepared to engage in an in-depth and high-quality discussion and were better able to connect clinical problems to underlying changes in tissue (lesions). However, many students indicated that the required time on task prior to lab might have been excessive relative to what they thought they learned. The classroom discussion, although improved, was not elevated to the expected level-most likely reflecting other missing elements of the learning environment, including the existing student culture and the students' current discussion skills. This article briefly discusses the lessons learned from ATLes and how similar case-based exercises might be combined with other approaches to enhance and enliven classroom discussions in the veterinary curriculum.

Rentabilidad de la tomografía axial computarizada en el diagnóstico de la fiebre de origen desconocido clásica

Diagnostic strategy in fever of unknown origin has been changing in recent decades. The objective of this study is to define the role of thoracoabdominal computerized axial tomography in the first diagnostic stage. A sample of 24 patients with classical fever of unknown origin from our hospital Internal Medicine department was selected between January 1995 and December 2002. Cost-effectiveness of diagnostic thoracoabdominal computerized axial tomography compared to that of abdominal echography was analyzed; the information obtained with both diagnostic techniques for the final diagnosis was also evaluated. Computerized axial tomography contributed data suggestive of the diagnosis in 10 of 24 patients (41.7%); abdominal echography only gave orienting information to the diagnosis in 2 cases (8%). In 9 (90%) of the 10 patients with computerized axial tomography specific alterations, a conclusive definitive diagnosis (with analysis of biological sample) was possible. Accordingly, the use of this technique is justified at the beginning of the study of the classical fever unknown origin in order to orient the clinician to resort to other more directed and specific diagnostic techniques and with higher diagnostic cost-effectiveness.

Características clínicas de los niños hospitalizados por infección por virus Influenza

The clinical manifestations of influenza virus are fairly nonspecific and are similar to those of other viral infections, respiratory processes due to other causes and even septic disease in neonates. Few studies have been performed of the clinical characteristics of influenza virus infection in hospitalized children. To evaluate the clinical characteristics of children hospitalized for influenza virus infection in four consecutive epidemic waves (2000-2004). We retrospectively reviewed the medical records of children hospitalized for influenza A and B virus infection confirmed by cell culture and polymerase chain reaction. Age, sex, symptoms on admission, complementary investigations, diagnosis and outcome were evaluated. Eighty-four children were hospitalized, of which 74 had influenza virus type AH3, five had influenza virus type AH1 and five had influenza B virus. A total of 42.8 % were aged less than 6 months. The main symptoms were fever (75 patients), cough (56 patients) and ENT involvement (53 patients). The most frequent causes of admission were febrile syndrome (75 patients), bronchiolitis (19 patients), pneumonia (13 patients) and bronchitis (8 patients). In 21 patients viral or bacterial coinfection was found, the most frequent of which was respiratory syncytial virus (10 patients). Few differences were found among age groups except for pneumonia and prolonged fever (more frequent in children older than 6 months) and lymphocytosis (in children younger than 6 months). The greatest number of complementary investigations in younger children was performed for acute febrile syndrome in neonates aged less than 6 months. Risk factors for hospitalization were found in only three children, all of whom were older than 6 months. Outcome was favorable in all children. Influenza virus infection in hospitalized children is most frequent in previously healthy neonates with fever and nonspecific signs and symptoms that are similar to those of other infectious processes. Specific microbiological diagnostic techniques are required for an early diagnosis. Healthy infants aged less than 24 months are most at risk for hospitalization for influenza virus infection.

Estimation of diagnostic test characteristics and prevalence of Giardia duodenalis in dairy calves in Belgium using a Bayesian approach

A Bayesian approach was used to determine both the test properties of three diagnostic test procedures and the prevalence of Giardia duodenalis in dairy calves in Belgium. A cross-sectional survey was conducted in the province of East Flanders, Belgium. Between September 2001 and December 2003, a total of 100 farms were visited and faecal samples were obtained rectally from 499 calves aged from newborn to 70 days. Because there is no gold standard for the diagnosis of a G. duodenalis infection in dairy calves, a subset of 235 samples obtained on the first 50 farms, was examined using three different assays: microscopical examination, an immunofluorescence assay (IFA) and an antigen detecting Elisa (ELISA). Based on the results of these three tests, Bayesian analysis indicated that the prevalence of G. duodenalis in dairy calves was 0.19 (95% Confidence Interval: 0.11–0.28) and that ELISA (Sensitivity (Se) 0.89 and Specificity (Sp): 0.90) and IFA (Se: 0.77 and Sp: 0.95) were both sensitive and specific diagnostic techniques, whereas microscopical examination was less sensitive (Se: 0.56 and Sp: 0.87). The proportion of positive farms was estimated as 0.42 (0.24–0.62). The prevalence and the cyst excretion in calves from different age categories were based on data obtained by IFA on all 499 samples. The prevalence was highest among four to five week old calves and remained high among older calves up to 10 weeks, but was lower among calves before the age of two weeks. The number of excreted cysts was estimated by IFA and ranged from 100 to 1,040,000 cysts per gram faeces, with a mean of 3516 cysts per gram faeces. The intensity of excretion peaked among four-week-old calves and remained high among calves up to the age of eight weeks. This is the first known study to use Bayesian analysis to estimate the prevalence of G. duodenalis in the faeces of dairy calves and to estimate test characteristics of diagnostic assays used for the detection of G. duodenalis.

CMV DNA e MRNA Pp67 nel monitoraggio del paziente sottoposto a trapianto di midollo osseo

Primary infection of immunocompetent individuals does not lead to complication, but CMV is a major clinical problem in transplant recipients.Thus, it is important to use sensitive and specific diagnostic techniques to rapidly and accurately detect CMV infection and identify patients at risk of developing CMV disease. In the present study, CMV infection after bone marrow transplantation was monitored by two molecular biology assays: COBAS AMPLICOR CMV MONITOR and NUCLISENS CMV m-RNA pp67. CMV m-RNApp67 assay was found to show positivity later than CMV-DNA MONITOR. The increment of number of copies/ml agreed with the clinical symptoms of CMV infection. The quantitative results of the CMV MONTOR assay was more helpfull to select an antiviral strategy than the qualitative results of NUCLISENS m-RNA pp67 assay.

Rotator Interval Lesions: Physical Exam, Imaging, Arthroscopic Findings, and Repair

ABSTRACTRotator interval lesions comprise a range of pathology, each requiring specific diagnostic and surgical techniques to accurately identify and appropriately treat patients. Rotator interval lesions can be separated into 4 types:Type I: RI contractureType II: RI laxity associated with glenohum

"Problem-based learning--inflammation and transplantation": an integrated, subject-centred course in the clinical section of the medical curriculum at the medical school of the University of Muenster

Conventional medical curricula present information pertinent to chronic inflammatory diseases, infectious diseases and transplantation, via systematic lectures and courses in medical specialties without any integrated approach. The authors report on a 3-week model course that attempts to provide students with an overview of clinical presentation, diagnostics, and therapy of representative disease entities with particular emphasis on the interdisciplinary approach to these problems in hospital practice. In addition to problem-based learning in small groups, the model course comprises interdisciplinary concept lectures, practical demonstrations of specific diagnostic procedures, and bedside teaching. In the meantime, the course "Problem-Based Learning--Inflammation and Transplantation" has been held twice successfully as a mandatory course in the clinical part of the curriculum at the Muenster Medical School.

Investigations in erectile dysfunction.

This is an update of recent developments in the investigation of erectile dysfunction in the period since March 2002. Three developments in the field of medical sexology redirected the approach towards the investigation of erectile dysfunction. First, the emergence of oral pharmacological therapy; second, the notion that sexual relationship issues have an important impact on the successful outcome of pharmacological therapy; and finally, the concept that erectile dysfunction is often a sequel or even a sentinel of cardiovascular disease. Consequently, the current evaluation of men with erectile dysfunction may be divided into two steps: a basic diagnostic evaluation for the majority of men, and specific diagnostic procedures for a small minority. The basic evaluation is aimed at the identification of the underlying pathological condition and erectile dysfunction-associated risk factors. Such screening may diagnose reversible causes of erectile dysfunction and also unmask medical and psychological conditions that manifest with erectile dysfunction. The basic evaluation consists of a comprehensive medical, sexual and psychosocial history and a physical examination. Patients who have failed first-line treatment or complicated cases qualify for specific diagnostic procedures, traditionally performed by urologists. Current research into the investigation of erectile dysfunction emphasizes the notion that erectile dysfunction is often a result of an interplay between medical and psychosexual conditions. Recognition of the underlying conditions and an estimation of their relative contribution to the patient's and his partner's sexual problem are key issues in the current evaluation of the man with erectile dysfunction.