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At least 487 records · Page 27Linked to original sources
PubMed2000

Diagnosis and staging of islet cell tumors of the pancreas.

Pancreatic endocrine tumors arise from the amine precursor uptake and decarboxylation (APUD) cells of the pancreas and behave in a different fashion both biologically and clinically from pancreatic adenocarcinoma. Gastrinomas and insulinomas are the two most common pancreatic endocrine tumors. Unlike pancreatic adenocarcinoma, in which tumor stage, resectability, and prognosis are determined by the tumor, nodes, and metastasis (TNM) classification, the prognosis of pancreatic endocrine tumors is determined by the presence of liver but not regional lymph node metastasis. This review focuses predominantly on the different diagnostic tools available to the clinician and the relative merits of each modality. The sensitivities of computed tomography, magnetic resonance imaging, somatostatin receptor scintigraphy, endoscopic ultrasound, and angiography with venous sampling for diagnosing islet cell tumors are compared. A diagnostic algorithm for the management of these tumors is provided at the end of the discussion.

Adenocarcinoma↗
PubMed2001

Efficacy of biliary scintigraphy in suspected sphincter of Oddi dysfunction.

Sphincter of Oddi dysfunction (SOD) can pose diagnostic challenges for the physician. SOD is classified into types I, II, and III, but clinical outcome after sphincterotomy for suspected types II and III SOD has been unpredictable. Therefore, accurate diagnosis of types II and III SOD is important because of the increased risk of sphincterotomy in patients with SOD. Endoscopic sphincter of Oddi manometry (ESOM) is the gold standard for diagnosis of SOD; however, it is associated with significant morbidity and is not an appropriate screening test. Quantitative hepatobiliary scintigraphy (QHBS) has demonstrated good sensitivity as a screening test for SOD in patients following cholecystectomy; however, studies using this methodology are criticized for poor design and patient selection. Recent publications address these criticisms and provide evidence that QHBS and ESOM are comparable diagnostic tools after exclusion of organic biliary obstruction. QHBS can effectively replace invasive ESOM in the diagnostic algorithm of SOD.

Biliary Tract↗
PubMed1996

Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis.

Hereditary hemochromatosis is an autosomal recessive disorder, the gene for which occurs in approximately 10% of Americans, most of whom are unaffected heterozygotes. Approximately 5/1000 white Americans are homozygous and at risk of developing severe and potentially lethal hemochromatosis. The disorder affects numerous organ systems, but the most common symptoms are fatigue, palpitations, joint pains, and impotence; the most common signs are those that relate to hypothalamic, cardiac, hepatic or pancreatic dysfunction, including poor cold tolerance, impotence in males, amenorrhea in females, cardiac arrhythmias, dyspnea, edema, hepatosplenomegaly, spider telangiectases, ascites, deformity, swelling or limitation of motion of joints, weight loss, hyperpigmentation. Characteristic abnormalities of laboratory tests include elevated serum iron concentration, high transferrin saturation, elevated serum ferritin concentration, elevated serum transaminases, hyperglycemia and low values for thyroid-stimulating hormone (TSH) and gonadotropins. Death may be the result of cardiac arrhythmia, congestive heart failure, liver failure or liver cancer. Since many of these complications cannot be reversed once they have developed, early diagnosis and treatment are essential. In view of the high prevalence in the American population (prevalence varies with ethnic background), the low cost of diagnosis and treatment, the efficacy of treatment if begun early, and, on the other hand, high costs and low success rate of late diagnosis and treatment, systematic screening for hemochromatosis is warranted for all persons over the age of 20 years. The initial screening should be by measurement of serum iron concentration and transferrin saturation. The practice guideline provides a diagnostic algorithm for cases in which the serum transferrin saturation is 60% or greater. It also provides guidelines for clinical management.

Female↗
PubMed1994

Laboratory medicine in ulcer disease.

The role of laboratory medicine in ulcer disease is poorly defined. However there is increasing evidence of the clinical usefulness of some laboratory tests that investigate secretory functions and defensive properties of the stomach, gastrointestinal hormones and Helicobacter pylori infection. These tests may modify the clinical management of patients with peptic ulcer by identifying H. pylori positive subjects, patients with high acid output, patients who do not respond to antisecretory therapy, and patients with high gastrin levels in whom Zollinger-Ellison syndrome may be suspected. Here we review the clinical value of laboratory tests in ulcer disease, particularly as concerns the cost/benefit ratio. The relative merits of these tests are described giving an indication of their possible role in the diagnostic algorithm.

Chemistry, Clinical↗
PubMedDate not supplied

Patterns of malaria morbidity and mortality in children in northern Ghana.

A malaria prevalence survey was carried out in young children in northern Ghana between October 1990 and September 1991, in an area with continuous mortality and morbidity surveillance. There was marked seasonal variation in malaria deaths, reported fevers, parasite rates and mean parasite densities, with parasite rates reaching 85-94% in the wet season. The monthly numbers of malaria deaths were highly correlated with rainfall in the previous 2 months (r = 0.90, P < 0.001). Parasite rates were highest in the oldest children (5-7 years), but parasite densities and rates of febrile illness were highest in those 6-11 months old. Haemoglobin levels were also at their lowest in this age group. The predominant species, Plasmodium falciparum, was present in 71% of all blood films. Febrile illness was well recognized by mothers, but it was not possible to construct a simple clinical diagnostic algorithm which would identify even 50% of children with high levels of malaria parasitaemia (> or = 4000 parasites/microL). Malariometric indicators appear to have changed little in this area since a previous survey in 1955.

Age Factors↗
PubMedDate not supplied

Visual disturbances of migraine.

Migraine, a clinical syndrome of unknown etiology, is a common cause of a variety of visual disturbances. This review describes the visual alterations associated with migraine syndromes of particular interest to the ophthalmologist; acephalgic, ocular, and ophthalmoplegic. Several current theories of migraine pathophysiology are discussed. Migrainous episodes are common and must be differentiated from neurologic dysfunction due to ischemia, inflammation, seizure, and compression. The differentiating characteristics of these conditions as well as a diagnostic algorithm are presented.

Adolescent↗
PubMed1995

Semi-automatic external defibrillation and implanted cardiac pacemakers: understanding the interactions during resuscitation.

Many emergency medical service (EMS) systems are currently implementing semi-automatic external defibrillation (AED) by emergency medical technicians. Surprisingly little information is available on the possible interactions between AEDs and implanted cardiac pacemakers. Therefore, at present there are no clear guidelines for the use of AEDs on patients having a cardiac pacemaker. During resuscitation, multiple interactions between pacemakers and AEDs are possible. External defibrillation can cause damage to several functions of the pacemaker. On the other hand, the presence of pacemaker spikes during cardiac arrest might prohibit recognition of the ventricular fibrillation by the AED. We report on two resuscitation attempts in which the interaction between the ventricular fibrillation, an implanted dual chamber pacemaker and the AED was decisive for the defibrillation success. A clear understanding of these possible interactions is necessary for the further refining of diagnostic algorithms and clinical strategies of prehospital defibrillation.

Adult↗
PubMedDate not supplied

Radiologic diagnosis of renal colic: the role of plain films, excretory urography and sonography.

The accuracy of plain films, excretory urography and ultrasound for the clinical work-up of renal colic for detecting urinary calculi was evaluated prospectively in 49 patients. Excretory urography was the most sensitive and specific test. Plain films and sonography each had a sensitivity of approximately 60%, but combined yielded a sensitivity of 80%; specificity did not improve. A diagnostic algorithm where sonography was performed first followed by an excretory urography in case of a negative sonography was highly sensitive (93%) and rather specific (79%). This algorithm appears also to have a good cost-benefit rate.

Acute Disease↗
PubMed1995

Unusually located osteoid osteomas.

The files of 12 patients (aged 12-33 years) with an equal number of surgically proven osteoid osteomas (OOs) were reviewed in attempt to find a diagnostic algorithm in cases of unusually located OOs. Plain radiography (PR) and thin collimation computed tomography (CT) had been performed in all patients, while bone scintigraphy (BS) had been performed in eight and magnetic resonance imaging (MRI) in two. The OOs were located at juxta- or intra-articular sites, except for one located at the left neck of the L4 vertebra. The diagnosis based on the MRI examinations was synovitis. BS showed increased accumulation of the radioisotope at the site of the lesions, without the 'double density' sign. PR showed the nidus of OO in only six patients, whereas CT located the nidus in all patients. In conclusion, we believe that when an OO is clinically suspected at an unusual location, CT should be performed in all cases, even when a lesion is depicted by PR and BS, because CT will not only locate the nidus but will also provide a precise anatomy of the area around the nidus and help in therapeutic decision making and surgical planning. MRI can be misleading and must not be used in the initial assessment of a possible osteoid osteoma.

Acetabulum↗
PubMedDate not supplied

CT evaluation of the equivocal pulmonary nodule.

In the setting of a questionable pulmonary nodule demonstrated by conventional radiographs, the place of CT in the diagnostic algorithm is not well established. We reviewed our experience in 50 consecutive patients referred to CT for a "possible pulmonary nodule." From the chest radiographs we noted nodule location, maximum dimension, presence on one or both views, and presence on a previous radiograph (greater than 1 year old), and nodules were categorized as "likely" or "unlikely" to be real parenchymal lesions based on radiographic appearance. Of a total of 56 questionable nodules, CT demonstrated no abnormality in 21 cases, parenchymal nodules in 16, scarring, atelectasis, or infiltrate in 11, and normal structural variants in 8. True pulmonary nodules were statistically significantly more frequently categorized as "likely" lesions than normal variants or no disease, but this was not of a magnitude to be clinically useful. Based on analysis of various radiographic features of equivocal nodules and their subsequent outcomes, we suggest a radiologic approach to the equivocal pulmonary nodule.

Humans↗
PubMed2023

Phenotypic presentation of Mendelian disease across the diagnostic trajectory in electronic health records.

PURPOSE: To investigate the phenotypic presentation of Mendelian disease across the diagnostic trajectory in the electronic health record (EHR). METHODS: We applied a conceptual model to delineate the diagnostic trajectory of Mendelian disease to the EHRs of patients affected by 1 of 9 Mendelian diseases. We assessed data availability and phenotype ascertainment across the diagnostic trajectory using phenotype risk scores and validated our findings via chart review of patients with hereditary connective tissue disorders. RESULTS: We identified 896 individuals with genetically confirmed diagnoses, 216 (24%) of whom had fully ascertained diagnostic trajectories. Phenotype risk scores increased following clinical suspicion and diagnosis (P < 1&#xa0;&#xd7; 10-4, Wilcoxon rank sum test). We found that of all International Classification of Disease-based phenotypes in the EHR, 66% were recorded after clinical suspicion, and manual chart review yielded consistent results. CONCLUSION: Using a novel conceptual model to study the diagnostic trajectory of genetic disease in the EHR, we demonstrated that phenotype ascertainment is, in large part, driven by the clinical examinations and studies prompted by clinical suspicion of a genetic disease, a process we term diagnostic convergence. Algorithms designed to detect undiagnosed genetic disease should consider censoring EHR data at the first date of clinical suspicion to avoid data leakage.

Humans↗
PubMed2026

An Integrative Morphological and Genomic Analysis With a Refined Fluorescence In Situ Hybridization (FISH) Threshold and Novel Kinase Fusions in a Large Asian Cohort of Spitzoid Neoplasms.

Differentiating atypical Spitz tumors (ASTs) from true Spitz melanomas (SMs) and conventional melanomas with spitzoid features (MSFs) remains a formidable diagnostic challenge. Because current molecular epidemiological data are overwhelmingly derived from Caucasian cohorts, the genomic landscape of Asian populations remains largely unexplored. To elucidate the molecular progression landscape and refine the diagnostic criteria, we performed a comprehensive multimodal analysis-integrating histomorphology, immunohistochemistry, multiprobe fluorescence in situ hybridization (FISH), and targeted RNA/DNA-based next-generation sequencing (NGS)-on a cohort of 140 spitzoid neoplasms. This cohort, comprising 126 ASTs, 8 SMs, and 6 MSFs, represents the largest Asian cohort to date. Malignant phenotype strongly correlated with lesional asymmetry, deep atypical mitoses, a sheet-like growth pattern, diffuse preferentially expressed antigen of melanoma positivity, and significant loss of p16 expression (64.3% in SM/MSF vs 9.5% in ASTs; P < .0001). Building upon the established melanoma FISH criteria, we optimized a prognostic threshold of &#x2265;2 FISH abnormalities specifically tailored for spitzoid neoplasms. We demonstrated that isolated single chromosomal aberrations (particularly MYB loss) are relatively stable events that are frequent in indolent ASTs, whereas our refined &#x2265;2 threshold yielded 100% sensitivity and 92.5% specificity for predicting regional lymph node metastasis/local recurrence. Molecularly, NGS identified mutually exclusive initiating driver alterations (comprising kinase fusions and HRAS mutations) in 89.9% of true Spitz neoplasms, a remarkably high prevalence suggesting a distinct genetic background in Asian populations. We also characterized 5 entirely novel kinase fusions (ZNF24::ROS1, PCBP1::ROS1, NUMA1::RET, CBWD1::ALK, and TPR::NTRK1). Furthermore, NGS definitively segregated true Spitz neoplasms from morphological mimics (MSF), which lacked fusions and were driven by canonical genomic alterations of the conventional melanoma pathway. Integrating these genomic landscapes validated a stepwise progression model. Although isolated kinase fusions drove indolent ASTs, malignant SM invariably harbored concurrent pathogenic secondary alterations, demonstrating a profound reliance on CDKN2A/B, TP53, and CDK4 aberrations. Ultimately, we propose an integrated diagnostic algorithm combining morphological evaluation, the refined FISH threshold, and comprehensive NGS profiling, providing a precise, evidence-based framework for pathway classification and clinical management of spitzoid neoplasms.

fluorescence in situ hybridization↗
PubMed1986

Single photon emission computed tomography in the diagnosis of pulmonary thromboembolism.

The use of single photon emission computed tomography (SPECT) as the procedure for screening, assessing the size and number of embolized areas, and evaluating the follow-up of patients with pulmonary thromboembolism (PTE) is reviewed. Details of the technique for acquiring and processing perfusion and ventilation lung SPECTs are presented. The tomographic images produced by SPECT allow the application of a less-expensive diagnostic algorithm than that classically used. This is due to the fact that the SPECT images contain more anatomical and physiological information than similar planar images. The signs of PTE in perfusion SPECT and the significance of mismatch, match, and paradoxical mismatch are discussed and illustrated with examples.

Humans↗
PubMed2002

[Steady state multi-frequency auditory evoked potentials as a technique to determine hearing threshold].

OBJECTIVE: Since the set up of Steady-State Auditory Evoked Potentials as a routine technique, it has became necessary the establishment of clinic capabilities and limitations. In this study, we have compared SSEP to behavioural thresholds, considering the last one as "gold standard" technique. MATERIALS AND METHODS: We have recorded SSEP to multiple frequencies and behavioural thresholds in 84 ears. The obtained data were statistically processed to obtain correlations and others indicators. RESULTS: SSEP thresholds are slightly higher than behavioural, whose average difference was calculated as 23 dB. It is worth to note that this difference diminishes at high frequencies and hearing loss cases. CONCLUSIONS: SSEP to multiple frequencies technique is capable to determine auditory thresholds accurately, being closer to the behavioural value at high frequencies and high threshold values. It is necessary the establishment of exploration protocols to assure the highest accuracy of the system. In this work, a diagnostic algorithm has been proposed to reach better results by using SSEP.

Adolescent↗
PubMed2000

Accuracy of glaucoma detection with frequency-doubling perimetry.

PURPOSE: To determine the accuracy of glaucoma detection by frequency-doubling perimetry. METHODS: Stereoview optic nerve photographs, visual field examination, intraocular pressure measurements, medical and ocular history, and a screening and full threshold frequency-doubling perimetry examination were performed in a prospective study of consecutive subjects. Inclusion criteria included age of 45 years or older, absence of ocular disease other than glaucoma, cataract, or mild drusen, and Snellen visual acuity of 20/60 or better. A total of 125 eyes in 102 glaucoma subjects and 95 eyes of 95 normal subjects were included. Each eye was classified as "normal," "glaucoma," or "uncertain" by each of three ophthalmologists on the basis of all available clinical information with the exception of frequency-doubling perimetry results. Those in the glaucoma group were subclassified as having early (n = 51), moderate (n = 42), or severe (n = 32) glaucoma on the basis of automated Humphrey visual field criteria. In the glaucoma group, two eyes from a subject were allowed to be included (23 of 102 subjects) if they differed in level of damage because they were never analyzed within the same statistical analysis. RESULTS: Several diagnostic algorithms were evaluated. Algorithms based on the most depressed single point, pair of adjacent points, and cluster of three points performed nearly identically. For the screening test, if any abnormality was identified, specificity was 95%, whereas sensitivity was 39%, 86%, and 100% for early, moderate, and severe glaucoma, respectively. For the full threshold test, with at least one point depressed to the P < 0.5% level, specificity measured 91%, whereas sensitivity was 35%, 88%, and 100% for early, moderate, and severe glaucoma, respectively. The two global indices, mean deviation and pattern standard deviation, were also evaluated and were generally less accurate. CONCLUSION: Frequency-doubling perimetry, which is rapid and easily administered, is effective at detecting moderate and severe disease and appears well suited for glaucoma screening.

Aged↗
PubMed1993

Clinical predictors of scleral rupture after blunt ocular trauma.

We conducted a two-part study to define better the clinical predictors of scleral rupture after blunt trauma. In part 1 we ascertained the prevalence of scleral rupture among a population of patients examined in an ophthalmic emergency room with severe blunt ocular trauma over a six-month period. Scleral rupture was diagnosed in ten of 283 patients (3.5%). In part 2 we compared the clinical findings in 29 patients with scleral rupture to those of 273 patients with no scleral rupture after blunt trauma. We noted that eyes with visual acuity of light perception or less, an intraocular pressure of 5 mm Hg or less, an abnormally deep or shallow anterior chamber, or a media opacity preventing a view of fundus details by indirect ophthalmoscopy, should be considered ruptured when severe intra- or periocular hemorrhage is present. This diagnostic algorithm had a sensitivity of 100.0% (98.7% to 100.0%), specificity of 98.5% (97.1% to 99.9%), and a positive predictive value of 71.4% (66.3% to 76.5%).

Algorithms↗