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PubMed2004

Ophthalmoplegic migraine.

Ophthalmoplegic migraine is a rare condition, previously thought to represent a variant of migraine. Recent observations regarding its usual clinical presentation and common magnetic resonance imaging findings have given rise to speculation that this illness is more likely to represent an inflammatory cranial neuropathy. The recent revision of the International Headache Classification has reclassified ophthalmoplegic migraine from a subtype of migraine to the category of neuralgia. In this article, potential pathophysiological mechanisms are discussed. The typical clinical presentation of ophthalmoplegic migraine generally involves transient migraine-like headache accompanied by often long-lasting oculomotor, abducens or, rarely, trochlear neuropathy with diplopia and (if oculomotor nerve is involved) pupillary abnormalities and ptosis. Ophthalmoplegic migraine generally occurs in children, but a number of adult cases have been reported. Prognosis is good because symptoms almost always resolve, but, after several episodes, some deficits may persist. Differential diagnosis is rather large, although most other possible causes of ophthalmoplegia and headache have distinctive presentations or can be excluded with fairly straightforward diagnostic testing. Optimal prophylactic and acute treatment is still unclear, but migraine prophylactic medications such as b blockers and calcium channel blockers have been proposed. Steroids have been used with mixed results.

Adult↗

PubMed1993

Biochemical markers of bone turnover. II: Diagnosis, prophylaxis, and treatment of osteoporosis.

Osteoporosis is a major health problem and is becoming increasingly important in our aging society. In many of the Western countries, patients with hip fracture occupy more hospital beds than patients with any other disease. Measures to combat osteoporosis are urgently needed, but the best way of doing so is uncertain. Osteoporosis prevention can be targeted at a subgroup of the population at high risk of disease. Alternatively, the intervention can be aimed at the entire population. Both preventive strategies have been proposed for osteoporotic fractures. Some researchers advocate population programs to increase weight-bearing exercise and calcium intake or to reduce smoking, but there is little direct evidence of their effectiveness. The most widespread opinion is that bone mass measurement is the most accurate predictor of fracture risk. Prediction of fracture risk may mean treatment for several years with drugs with not only effects, but also adverse effects. This encourages attempts to optimize the diagnostic procedures.

Biomarkers↗

PubMed1987

An evaluation of xeroradiographs and radiographs in length determination in endodontics.

Twelve block sections of mandibles containing incisors, canines, premolars, and molars were dissected from human cadavers (total, 26 teeth). Endodontic access was achieved, and a No. 10 k-type endodontic file was inserted to a point approximately 1 to 2 mm short of the radiographic apex. By securing the mandible and Rinn instrument with plaster mounts, exposures were made from identical angles and film and jaw placement remained constant in both techniques. Conventional film images were recorded on Kodak Ultraspeed film with six to eight impulses. Xeroradiographic images were recorded with four to five impulses. Radiographs and xeroradiographs were evaluated with the use of light from a masked viewbox. A magnifying glass was used to evaluate visualization of the following entities: the root apex; the periodontal ligament; the trabecular pattern; and the measuring instruments. The images were examined and categorized by three examiners, who used the following scores: 3, optimal for diagnostic information; 2, adequate for diagnostic information; 1, poor but providing diagnostic information; and 0, unacceptably poor. In all categories examined, the information provided by xeroradiographs was significantly greater than that provided by conventional radiographs (p less than .05). In terms of diagnostic value and lower patient dose, xeroradiographs are preferred to conventional radiographs.

Dental Pulp Cavity↗

PubMed1995

Optimization of PCR-based diagnostics for human cytomegalovirus.

Various techniques of DNA template preparation for the PCR-based analysis of human CMV in biological fluids have been compared. Structural polymorphism of a CMV DNA segment (part of the major immediate early gene) in clinical isolates is described; the molecular markers (nucleotide substitutions, deletions, insertions) localized in the analyzed amplicon appear to be suitable for molecular-epidemiological studies. A scheme of spreading of the molecular markers in the population is suggested.

Base Sequence↗

PubMed1996

[Rhodococcus equi pulmonary abscess in HIV infection].

RE is a well-known Gram positive bacillus which is usually pathogenic in animals. Disease in humans is rare, but incidence has clearly increased with the advent of AIDS. In humans, RE predominantly infect people with impaired cellular immunity so that it is considered an opportunistic agent. Its must common manifestation in immuno-compromised patients is a slowly progressive pneumonia which may cavitate. Even with early diagnostic and optimal and prolonged antibiotic therapy, the mortality of RE, infections remain high (20 to 55%). Problems in clinical and therapic management are illustrated in our two cases of cavitated pneumonia in two AIDS patients.

AIDS-Related Opportunistic Infections↗

PubMed2005

Genetic basis of rheumatoid arthritis.

Rheumatoid arthritis (RA) is a multifactorial disease due to a combination of genetic and environmental factors. Identification of the genetic factors involved in the pathogenesis of RA should open up avenues for developing radical treatment strategies directed at the cause of the disease. The Association de Recherche sur la Polyarthrite (ARP) supports research in this field, in which our group has been involved since 1993. Thanks to this support, considerable progress has been made. Several combinations of susceptibility alleles of various genes are probably involved in the development of RA. Although HLA-DRB1 is the main RA gene, it accounts for only part of the familial risk for RA. HLA-DRB1 alleles are neither necessary nor sufficient to cause the development of RA in a given individual. Several genome scans conducted in populations from France, Japan, North America and UK have confirmed the role of the HLA region and suggested several other susceptibility loci. Association studies support a role for several genes, including TNFR2, PADI4, SLC22A4, RUNX1, and PTPN22. However, the imperfect matching of cases and controls requires that confirmation of these results be obtained. To confirm that a gene confers susceptibility to RA, the association must be replicated in several independent studies and, more importantly, evidence of genetic linkage must be obtained in family studies. The identification of genetic factors conferring susceptibility to RA will open up new avenues toward radical treatments for RA and may help to optimize the diagnostic, prognostic, and pharmacogenetic management of today's patients with RA.

Arthritis, Rheumatoid↗

PubMed2004

New variant of the human metapneumovirus (HMPV) associated with an acute and severe exacerbation of asthma bronchiale.

Recently, an increasing number of studies demonstrated that the human metapneumovirus (HMPV) causes mild to severe respiratory infections in children and immunosuppressed adults, and may be a frequent but somewhat undervalued pathogen. Here, we report the detection of a new variant of HMPV that is not closely related to the HMPV strains described until now. The strain was detected in a 6.5-year-old girl with an acute and severe exacerbation of asthma bronchiale triggered by an infection with a newly detected HMPV variant. The presented data provide new information on genetic heterogeneity of HMPV and necessitate an optimization of diagnostic procedures for the detection of HMPV infection.

Acute Disease↗

PubMed2002

Diagnosis of gastritis by means of a combination of serological analyses.

BACKGROUND: Gastroscopy and examination of biopsy is normally required for diagnosis of gastritis. This is costly and inconvenient for the patient, and there is a need for a simple pregastroscopic screening method to reduce the endoscopy workload. Our aim was to develop a serological screening test for gastritis. METHODS: Sera from subjects examined with gastroscopy and biopsy were analyzed for H,K-ATPase antibodies, Helicobacter pylori antibodies and pepsinogen I. The diagnoses were normal gastric mucosa (n=50), duodenal ulcer (n=53) and atrophic corpus gastritis, with (n=50) or without pernicious anemia (n=46). RESULTS: An evaluation scheme was constructed to optimize the diagnostic agreement between serology and gastric mucosal morphology. The sensitivity to detect gastritis was 98% (146/149) (95% CI 94-100%) and the specificity 84% (42/50) (95% CI 71-93%). Additional sera from 483 subjects from the general population were analyzed. There was a good agreement between serology and gastric mucosal morphology. CONCLUSIONS: Assays of multiple serum analytes are useful for the initial screening of gastritis. They are complementary to upper gastroscopy by identification of subjects with a normal gastric mucosa, those who qualify for eradication of H. pylori, and those who have developed atrophy and are at risk of developing malignancy and, therefore, require gastroscopic examination.

Adult↗

PubMed1997

The management of urinary tract injuries after gunshot wounds of the anterior and posterior abdomen.

Gunshot wounds of the urinary tract are seen with increasing frequency due to the widespread use of firearms. There is much controversy regarding the optimal preoperative diagnostic evaluation and intraoperative management of such injuries. Debate also arises as to the need for mandatory exploration or the safety of non-operative management for carefully selected patients. Seventy-nine prospective patients with injuries of the urinary tract after a truncal GSW were analyzed. The incidence of renal repair, nephrectomy, bladder repair and ureteral repair was 14, 21, 27 and 9 per cent, respectively. Five (6 per cent) patients were managed non-operatively and 16 (20 per cent) more underwent abdominal but not renal exploration. From 21 (26.5 per cent) cases with complications, only three (4 per cent) patients developed complications which were associated with the urinary tract injuries. Although the majority of patients with GSWs of the urinary tract will require abdominal exploration, invasion of Gerota's fascia may be spared in cases of stable renal haematomas. A high index of suspicion followed by adequate exploration is required to avoid missed ureteral injuries. Bladder perforations almost always require surgical repair.

Adult↗

PubMed2002

Impact of age on total and complexed prostate-specific antigen cutoffs in a contemporary referral series of men with prostate cancer.

Age-specific prostate-specific antigen (PSA) cutoffs were previously suggested and were found to miss significant cancers in older men. We assessed the influence of an age-adjusted PSA cutoff to optimize the diagnostic performance (sensitivity and specificity) of complexed PSA (cPSA) and total PSA (tPSA) in the differentiation of benign disease from prostate cancer using a contemporary referral patient cohort. The cPSA and tPSA values were determined using the Bayer Immuno 1 system. The diagnostic utility of tPSA and cPSA was assessed using a diverse contemporary test population consisting of sera prospectively collected between June 1999 and October 2000 from 3597 men who recently underwent a systematic biopsy by urologists in clinical practices throughout the United States. This contemporary patient sample had biopsy diagnoses of either no evidence of malignancy (NEM; N = 2189) or prostate cancer (n = 1408). All serum samples had tPSA values between 2.0 and 20.0 ng/mL. The mean tPSAs (ng/mL) for the NEM and prostate cancer groups were 7.1 +/- 3.2 and 7.3 +/- 3.3, respectively (P = 0.026). The mean cPSAs (ng/mL) for the NEM and prostate cancer groups were 5.6 +/- 2.7 and 6.0 +/- 2.9, respectively (P <0.001). As the tPSA increased from 2.0 to 10.0 ng/mL, the cancer detection rate remained relatively constant at approximately 39% when evaluated using increments of 2.0 ng/mL for tPSA. For fixed sensitivities of 80%, 85%, 90%, and 95%, as the age range increased (45 to 59, 60 to 69, 70 to 79, >or=80), the tPSA and cPSA assay cutoffs required to sustain the specified sensitivity level markedly increased, with the exception of the 95% sensitivity level, where the cutoffs only slightly increased between the age ranges of 45 to 69 and >or=70. Overall, cPSA showed a marginal improvement in specificity versus tPSA across all age groups at all sensitivity levels. In this community referral population, the cancer detection rate remained fairly constant over the tPSA range of 2.0 to 20.0 ng/mL. This study demonstrated that to maintain a given sensitivity level for cPSA and tPSA in the age ranges studied, continuous upward adjustment of the cutoffs was required as age increased.

Age Factors↗

PubMed1997

The effect of prostatitis, urinary retention, ejaculation, and ambulation on the serum prostate-specific antigen concentration.

PSA remains an immensely valuable tool in the diagnosis of prostate adenocarcinoma. Factors such as prostatitis, urinary retention, ejaculation, and inpatient versus outpatient measurement, however, may have a profound effect on the serum PSA concentration. Furthermore, prostate biopsy and TURP result in an increase in the serum PSA value that resolves in 4 to 6 weeks. It is imperative that these factors be taken into account to interpret serum PSA values, to optimize the diagnostic utility of the PSA test.

Aged↗

PubMed1990

Toxicology of selected pesticides, drugs, and chemicals. Smoke inhalation.

Animals with smoke inhalation should be given a thorough diagnostic evaluation. Optimal care relies on the information derived, as well as judicious choice of therapeutic measures. Careful attention to such animals by the veterinarian and allied staff is important to minimize suffering and to enhance not only the likelihood of survival, but also the extent of recovery.

Animals↗

PubMed1999

Myxoma of the mitral valve: diagnosis by 2-dimensional and 3-dimensional echocardiography.

In this report we describe a 39-year-old patient who had left-sided hemiparesis. In search of a source of embolism, we performed transthoracic echocardiography, which did not show any abnormalities. Transesophageal echocardiography revealed a small tumor of the posterior mitral leaflet. Three-dimensional transesophageal echocardiography was subsequently performed and demonstrated more accurate information about the size, the morphology, and the attachment point of the tumor. Furthermore, the reconstruction provided excellent spatial visualization of the pathomorphology of the mitral valve and was a useful addition for optimal preoperative diagnostic management. The tumor was excised, and histologic examination confirmed the myxomatous character of the tumor. Mitral valve myxomas are rare. This is the first case reported of a mitral valve myxoma being visualized by 3D echocardiography.

Adult↗

PubMedDate not supplied

Virtual endoscopy: development and evaluation using the Visible Human datasets.

Virtual endoscopy (VE) is a new method of diagnosis using computer processing of 3D image datasets (such as CT or MRI scans) to provide simulated visualizations of patient specific organs similar or equivalent to those produced by standard endoscopic procedures. Conventional endoscopy is invasive and often uncomfortable for patients. It sometimes has serious side effects such as perforation, infection and hemorrhage. VE visualization avoids these risks and can minimize difficulties and decrease morbidity when used before actual endoscopic procedures. In addition, there are many body regions not compatible with real endoscopy that can be explored with VE. Eventually, VE may replace many forms of real endoscopy. There remains a critical need to refine and validate VE visualizations for routine clinical use. We have used the Visible Human Dataset from the National Library of Medicine to develop and test these procedures and to evaluate their use in a variety of clinical applications. We have developed specific clinical protocols to compare virtual endoscopy with real endoscopy. We have developed informative and dynamic on-screen navigation guides to help the surgeon or physician interactively determine body orientation and precise anatomical localization while performing the VE procedures. Additionally, the adjunctive value of full 3D imaging (e.g. looking "outside" of the normal field of view) during the VE exam is being evaluated. Quantitative analyses of local geometric and densitometric properties obtained from the virtual procedures ("virtual biopsy") are being developed and compared with other direct measures. Preliminary results suggest that these virtual procedures can provide accurate, reproducible and clinically useful visualizations and measurements. These studies will help drive improvements in and lend credibility to VE procedures and simulations as routine clinical tools. VE holds significant promise for optimizing endoscopic diagnostic procedures, minimizing patient risk and morbidity, and reducing health care costs.

Anatomy, Cross-Sectional↗

PubMedDate not supplied

MR hysterography using axial long TR imaging with three-dimensional projections of the uterus.

A rapid screening technique for the presentation of uterine cavity anatomy obtained with MR is described. MR hysterographic (MRHG) images were generated and evaluated for uterine cavity abnormalities. Six patients referred for MRI evaluation of the uterus for infertility had an MRI using a pelvic phased array coil with axial 3 mm interleaved fast spin echo images (TR 9000 ms, TE 288 ms with fat saturation) processed using maximum intensity projection algorithms to construct MRHG images. Using the conventional MR sequence as the gold standard the MRHG images were evaluated by two reviewers and accuracy calculated. MRHG took less than 3 min, demonstrated the correct diagnosis in all with a quality score of diagnostic to optimal, and with excellent interobserver agreement (kappa 0.9).

Adult↗

PubMed2003

Species specific identification of the Neofabraea pathogen complex associated with pome fruits using PCR and multiplex DNA amplification.

Five species of pathogenic fungi belong to Neofabraea. One of these, N. krawtzewii (syn. N. populi), is responsible for bark lesions on poplar (Populus) trees. The other four species cause post-harvest bull's eye rot of pome fruits, and at least two of these also cause bark cankers on pome fruit trees. Morphological variation among these species is slight, and overlap in geographic range sometimes occurs. As a consequence, identification based on conventional criteria can be tenuous. PCR primers with putative species specificity were developed following genetic analysis of the beta-tubulin gene for isolates of each of the five species of Neofabraea. PCR conditions required to achieve specificity of the primer sets were determined, and a multiplex PCR protocol was developed to optimize their diagnostic utility on apple fruits. A protocol with higher annealing temperatures in the initial PCR cycles followed by lower temperatures in later cycles gave complete species-specificity when the primer sets were used individually and in multiplex, resulting in successful detection of the pathogens from axenic culture and infected apple fruits.

Ascomycota↗

PubMed2004

Neonatal screening for glutaryl-CoA dehydrogenase deficiency.

Acute encephalopathic crisis in glutaryl-CoA dehydrogenase deficiency results in an unfavourable disease course and poor outcome, dominated by dystonia, feeding problems, seizures and secondary complications, and quite often leading to early death. The prerequisite for the prevention of irreversible brain damage in this disease is the detection of affected patients and initiation of treatment before the manifestation of such crisis. Apart from macrocephaly there are no signs or symptoms characteristic for this disease in presymptomatic children and, thus, they are usually missed. In some countries, implementation of extended neonatal screening programmes using electrospray ionization tandem mass spectrometry (ESI-MS/MS) allows detection of affected newborns and start of therapy before onset of neurological complications. This article summarizes recent strategies, pitfalls and shortcomings of a mass screening for glutaryl-CoA dehydrogenase deficiency using ESI-MS/MS. Furthermore, an alternative strategy, namely DNA-based neonatal screening for the Oji-Cree variant of this disease, is demonstrated. An optimization of diagnostic as well as therapeutic procedures must be achieved before GCDH deficiency unequivocally fulfills the criteria of a reliable and successful newborn screening programme.

Amino Acid Metabolism, Inborn Errors↗

PubMed2005

Circadian clocks - the fall and rise of physiology.

Circadian clocks control the daily life of most light-sensitive organisms - from cyanobacteria to humans. Molecular processes generate cellular rhythmicity, and cellular clocks in animals coordinate rhythms through interaction (known as coupling). This hierarchy of clocks generates a complex, approximately 24-hour temporal programme that is synchronized with the rotation of the Earth. The circadian system ensures anticipation and adaptation to daily environmental changes, and functions on different levels - from gene expression to behaviour. Circadian research is a remarkable example of interdisciplinarity, unravelling the complex mechanisms that underlie a ubiquitous biological programme. Insights from this research will help to optimize medical diagnostics and therapy, as well as adjust social and biological timing on the individual level.

Animals↗