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At least 757 records · Page 42Linked to original sources
PubMed2004

Diagnosis of deep venous thrombosis and alternative diseases in symptomatic outpatients.

BACKGROUND: The management of patients with suspected deep vein thrombosis (DVT) is controversial. Recent studies have suggested that anticoagulant treatment can safely be withheld if the clinical probability is low and the D-dimer concentration in blood is normal. We examined a diagnostic algorithm comparing a score-based, explicit assessment model with our empirical, implicit approach, which was designed to be more sensitive for distal DVT. We further investigated what information would be lost by not performing a routine ultrasound examination in each patient. METHODS: Consecutive patients with suspected DVT first received a D-dimer estimation, then an examination to assess the clinical probability, and ultimately objective testing for DVT or alternative diseases. Ultrasound was used in all patients; venography and other tests were performed as indicated. The implicit assessment of clinical probability was compared with the explicit scoring system of Wells et al., and the value of ultrasound was assessed retrospectively. RESULTS: In 57 of 206 patients (28%), DVT was confirmed. A high clinical probability was attributed to all pelvic and femoral DVT (except one), but popliteal and crural DVT were missed in 78% by the explicit approach and in 34% by the implicit approach. The negative predictive values for any DVT were 83% for the explicit assessment and 92% for the implicit assessment, 95% for the D-dimer estimation, and 98% (95% CI 92-99) for the combination of low implicit clinical probability and a negative D-dimer test. This combination yielded the same NPV for isolated crural DVT and was found in 41% of all suspected cases. An alternative organic diagnosis was established in 100 patients (48%) and no organic diagnosis was made in 49 (24%). In half of all suspected cases, irrespective of whether DVT was present or not, concomitant or alternative venous pathologies were observed. Ultrasound was found useful in 91% of cases. CONCLUSIONS: Proximal as well as distal DVT can reliably be excluded when both a sensitive assessment of clinical probability and a bedside D-dimer assay are negative. Nevertheless, ultrasound is helpful in establishing alternative diagnoses. Strategies to reduce the number of ultrasound investigations appear to lack comprehensiveness.

Journal Article↗
PubMed2005

Analysis of radiological examination request forms in conjunction with justification of X-ray exposures.

OBJECTIVES: To evaluate the adequacy of patient data and clinical information transmitted to the radiological departments by the referring clinicians in view of the justification demands concerning the radiological examinations, as those are described in the Radiation Protection Regulations of the European Union Nations. MATERIALS AND METHODS: Request forms for 1708 patients referred to radiology department and 410 referred to the CT department were evaluated concerning the proper completion of the form fields. Furthermore, for CT examinations a more detailed evaluation was carried out, to assess the rationalistic use of CT within the diagnostic algorithm. RESULTS: Not properly completed request forms to both departments were observed, however, the omissions were more prominent for the referrals to the radiology department, where the age and the probable clinical diagnosis was not given in 81.5 and 46% of the forms, respectively. Furthermore, the emergency indication was less cautiously used compared to the CT requests. For the CT department 33.3% of requests were justified and the final diagnosis was included in the referring doctor's probable clinical diagnosis. U/S was the examination of choice in 51% of the cases where an examination should have been performed before CT and in 70.6% of the cases where an alternative examination was proposed. CONCLUSIONS: The inadequate transmission of clinical information and the large number of not fully justified CT requests observed in this study are typical examples of the various problems that radiologists have to face in order to apply the justification directives.

Forms and Records Control↗
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↗
PubMed2006

Mechanisms of syncopes in arrhythmogenic right ventricular dysplasia-cardiomyopathy beyond monomorphic ventricular tachycardia.

Syncopes appear in 10-20% in arrhythmogenic right ventricular dysplasia-cardiomyopathy (ARVD/C). In the majority of cases sustained or non-sustained monomorphic ventricular tachycardias represent the underlying mechanism of syncope. In other cases the mechanism remains unclear. In 37 patients (23 females, mean age 43.6+/-12.8 years) without detectable and inducible monomorphic ventricular tachycardia, a diagnostic algorithm including repeat ECG, holter monitoring, telemetry, electrophysiological examination, ajmaline challenge, tilt table testing and neurological work-up (EEG, cranial computer tomography) was used in order to identify the mechanism of syncopes. Constant AV block 3 degrees could be found in 3 patients (2 males). Intermittant AV block 2 degrees or 3 degrees could be identified in 3 females. Four males had abnormal Wenckebach point during rapid atrial stimulation, 3 males demonstrate isolated HV interval prolongation. Rapid polymorphic VT and VF could be induced in a young female with ARVD/C. Eight patients (7 females) presented with recurrent syncopes and provocable right precordial ST elevation and right bundle branch block during ajmaline challenge. Three patients had abnormal tilt table testing as the only pathological finding. In one female with intermittent AV block 2 degrees tilt table testing and ajmaline challenge was positive. One female had the diagnosis of focal epilepsia after neurological work-up. In 11 cases the mechanism of syncopes remained unclear. In patients with ARVD/C and syncopes beyond detectable or inducible monomorphic VT, several mechanisms of syncopes could be identified with conduction disease as the predominant finding. These results may help in identifying rare mechanisms of syncopes in ARVD/C.

Adolescent↗
PubMed2004

Alpha-1-antitrypsin associated panniculitis: the MS variant.

Over 90 mutant alleles of the alpha-1-antitrypsin (AAT) gene are recognized and classified by mobility on an acid starch gel. The four major categories include: F=fast, M=medium, S=slow, Z=very slow. Among 41 reported cases of AAT panniculitis, most have the ZZ phenotype with AAT levels below normal. We report two cases of AAT panniculitis with MS phenotype and normal AAT levels. In addition, we review the pathophysiology, epidemiology, and extracutaneous manifestations of AAT disease and propose a diagnostic algorithm for ulcerative panniculitis. A 42-year-old man presented with a solitary plaque on the left thigh exacerbated by trauma or excessive activity. The lesion frequently suppurated with a yellowish oily material. Twenty years before, he had fractured his left femur which was repaired with a metal plate. X-rays, histology with special stains for organisms, and cultures were negative. AAT phenotype was MS and AAT value was normal. A 43-year-old woman presented with multiple plaques on the proximal extremities which suppurated with exercise or trauma. AAT phenotype was MS and AAT level was normal. Histologic exam for both patients showed a dense neutrophilic infiltrate with septal and lobular panniculitis and areas of necrobiosis in the lower reticular dermis.

Adult↗
PubMed2005

Decision points for the initiation of systemic treatment for psoriasis.

Psoriasis has a tremendous effect on health-related quality of life. Phototherapy and systemic treatments are used for patients with more debilitating (physically and emotionally) forms of the disease. These treatments can be extremely effective but can also have potentially significant adverse effects. The decision to undertake systemic treatment of psoriasis is a complex one that requires both experience and judgment. With the recent advent of new biologic systemic drugs for moderate to severe psoriasis, the need to clarify patient candidates for systemic therapy has become very important. Here, we present a diagnostic algorithm and a formal measure, the Koo-Menter Psoriasis Instrument (KMPI), to aid in identifying patients that would benefit from systemic therapy. In addition, the KMPI can be used to document and justify treatment decisions for health care payers. While the decision to undertake systemic treatment and the choice of specific treatment plan must ultimately be made mutually by the patient and physician, these tools are designed to provide information that will be valuable in these determinations.

Algorithms↗
PubMed2006

Dermoscopy for "true" amelanotic melanoma: a clinical dermoscopic-pathologic case study.

Completely amelanotic melanomas are rare and therefore often misclassified, with tragic consequences for patients. The use of dermoscopy for these lesions has not been validated yet because of the lack of studies that are based on large series. The analysis of the vascular pattern, which is often the only dermoscopic parameter to be seen, is therefore essential for a correct diagnosis. We present a case of "true" amelanotic melanoma on the forehead of an 89-year-old man, which clinically mimicked squamous cell carcinoma. The patient was investigated both clinically and by focusing on his dermoscopic features and their pathologic correlates. The dermoscopic diagnostic algorithms routinely used for pigmented lesions are not helpful in diagnosing amelanotic melanoma because they are based on specific parameters not normally seen in amelanotic lesions. In the light of our experience, pattern analysis is the most reliable method for diagnosing these particular lesions correctly because it allows in-depth morphologic analysis of the few parameters found.

Aged↗
PubMed2005

Pilot study on the sensitivity and specificity of in vivo reflectance confocal microscopy in the diagnosis of allergic contact dermatitis.

The validity, reproducibility, and specificity of patch-testing in the diagnosis of allergic contact dermatitis (ACD) have repeatedly been addressed. In vivo reflectance confocal microscopy (RCM) has been used for real-time evaluation of the histopathologic features of ACD. This pilot study was designed to determine the sensitivity and specificity of RCM in diagnosing ACD in reference to patch-testing. Sixteen participants were patch tested with allergens and control substances. Clinical scoring, digital photography, and RCM evaluation were performed at 72 hours, and RCM images were subjected to blinded evaluation. RCM evaluation parameters included stratum corneum (SC) disruption, parakeratosis, stratum spinosum (SS) and stratum granulosum (SG) spongiosis, and exocytosis. Overall, there was high specificity for all RCM features, ranging from 95.8% to 100%. Sensitivity ranged from 51.9% to 96.3%. Significant parameters with high sensitivity and specificity included spongiosis and exocytosis at the level of SS. Logistic regression analysis was performed on significant variables; P values were determined by chi2 analysis. RCM is a promising noninvasive technology for the evaluation of ACD. SC changes are not helpful in the diagnosis of ACD, although the presence of SG spongiosis and SS spongiosis shows high sensitivity in diagnosing ACD. Larger sensitivity and specificity studies are needed and the identification of ACD has to be based on a defined diagnostic algorithm. A limitation of this study is the small sample size; larger sensitivity and specificity studies are needed to confirm these findings. In addition, individual allergens have to be subjected to further evaluations in order to demonstrate the applicability of our findings for other contact allergens. In that regard, RCM may be considered as an adjunctive tool, rather than a substitute, to clinical evaluation.

Adult↗
PubMed2004

Diagnosis and differential assessment of pulmonary arterial hypertension.

Pulmonary arterial hypertension (PAH) is diagnosed by various investigations that are essential for making the diagnosis, and by additional tests to clarify the category of pulmonary hypertension (PH). A diagnostic algorithm can guide the evaluation of PH, but like all guidelines the algorithm can be modified according to specific clinical circumstances. Most patients are diagnosed as the result of an evaluation of symptoms, whereas others are diagnosed during screening of asymptomatic populations at risk. Right heart catheterization (RHC) must be performed in patients with suspected PH to establish the diagnosis and document pulmonary hemodynamics. Before initiation of medical therapy, assessment of acute vasoreactivity (during catheterization) is necessary to determine the appropriate therapy for an individual patient. An acute response is generally defined as a decrease in mean pulmonary arterial pressure of at least 10 mm Hg with the mean pulmonary arterial pressure decreasing to 40 mm Hg or below, accompanied by a normal or high cardiac output. After PAH is diagnosed, disease severity should be assessed in order to accurately determine risk:benefit profiles for various therapeutic options. Useful tools to predict outcome include functional class, exercise capacity, pulmonary hemodynamics, acute vasoreactivity, right ventricular function, as well as brain natriuretic peptide, endothelin-1, uric acid, and troponin levels. Repeating these tests serially on treatment is useful for monitoring the response to a given therapy. Close follow-up at a center specializing in management of PH is recommended, with careful periodic reassessment and adjustment of therapy.

Diagnosis, Differential↗
PubMed2006

Computed tomography-based clinical diagnostic pathway for acute appendicitis: prospective validation.

BACKGROUND: Despite our regular use of CT for suspected appendicitis, a recent study at our institution demonstrated a negative appendectomy (NA) rate similar to our rate 15 years earlier. Based on analysis of this data, a diagnostic pathway was implemented prospectively for adult patients with possible appendicitis. STUDY DESIGN: Rates of CT, NA, and perforation for nonpregnant patients over 14 years of age undergoing appendectomy between August 2001 and August 2002 (PRE) were compared with prospectively collected pathway data (PATH, August 2004 to August 2005). All PATH patients were evaluated by a surgeon before CT. All females underwent CT. CT was obtained in male patients with low suspicion or pain for longer than 48 hours. After negative CT, patients were discharged from the emergency department or admitted for observation. RESULTS: There was a substantial decrease in NA rate after implementation of the pathway (4% PATH [8 of 183] versus 16% PRE [31 of 196], p < 0.001), without a change in the rate of perforation (11% PATH [20 of 175] versus 8% PRE [13 of 165], p = 0.28) or frequency of preoperative CT (59% PATH [108 of 183] versus 60% PRE [118 of 196], p = 0.84). CONCLUSIONS: Frequent appendiceal CT alone does not ensure surgical diagnostic accuracy. CT need not be used in all patients to achieve very low NA rates. An evidence-based diagnostic algorithm incorporating early surgical evaluation, objective criteria for preoperative CT, deterrence of early operation after negative CT, and use of CT to facilitate safe discharge led to substantial improvements in the care of our adult population presenting with possible appendicitis.

Acute Disease↗
PubMed2006

Diagnosis and contemporary management of anastomotic leaks after gastric bypass for obesity.

BACKGROUND: Anastomotic leaks are a dreaded complication of bariatric surgery. The objective of this study was to describe the clinical presentation and outcomes of treatment in patients who develop anastomotic leaks after Roux-en-Y gastric bypass for obesity. STUDY DESIGN: Prospectively collected data on 3,018 consecutive patients who underwent Roux-en-Y gastric bypass in 4 tertiary referral centers were reviewed. RESULTS: Sixty-three patients (2.1%) developed anastomotic leaks (open, 2.1%; laparoscopic, 2.1%) at a median of 3 days (range 0 to 28 days) after Roux-en-Y gastric bypass. Symptoms and signs included tachycardia (72%), fever (63%), or abdominal pain (54%). Upper gastrointestinal series and CT demonstrated leaks in only 17 of 56 (30%) and 28 of 50 (56%) patients, respectively; when done jointly, both studies were negative in 30% of patients. The 68 anastomotic leaks occurred at the gastrojejunostomy (49%), excluded stomach (25%), jejunojejunostomy (13%), gastric pouch (9%), and uncertain location (4%). Forty patients (63%) required 58 reoperations for drainage of intraabdominal collections (55%), repair of anastomotic defects (34%), or revision of the leaking anastomosis (11%), with an overall morbidity of 53% and mortality of 10%. Nonoperative treatment was successful in 23 of 26 patients, with an overall morbidity of 61% and no mortality (p=NS versus operative). Operative treatment was more common in patients with hypotension or oliguria (p < 0.01). CONCLUSIONS: Lack of specificity in clinical presentation and imaging studies make diagnosing anastomotic leaks challenging, so operative exploration should be part of the diagnostic algorithm. Nonoperative treatment is safe and effective in a subset of patients who exhibit stable hemodynamic parameters and are known to have controlled leaks.

Adult↗
PubMed2004

The nonspecificity of ST-segment elevation > or =5.0 mm in V1-V3 in the diagnosis of acute myocardial infarction in the presence of ventricular paced rhythm.

The criterion of ST-segment elevation (+ST) > or=5.0 mm in leads V1-V3 for the diagnosis of acute myocardial infarction (AMI) in patients with paced ventricular rhythm lacks specificity, since it is also encountered in patients with pacemakers and QRS complexes of large amplitudes in leads V1-V3 but without an AMI. This report is based on 2 such patients with electronically-paced rhythms and excessive +ST who did not have an AMI although this diagnosis would have been made if proposed criteria had been strictly employed. Consequently, it is recommended that in such instances the amplitudes of QRS complexes are taken into account when ST-segment elevations in leads V1-V3 are used in the diagnostic algorithm of AMI.

Aged↗
PubMed2004

Definitive diagnosis in children with congenital hypothyroidism.

OBJECTIVES: To investigate the definitive diagnosis and underlying causes of congenital hypothyroidism (CH) in eligible children through the use of a standardized protocol. STUDY DESIGN: Children > or =3 years of age with CH without an identified permanent cause underwent a diagnostic algorithm. Eligible subjects had an anatomically normal thyroid or had not undergone imaging studies. After thyroxine was discontinued for 4 weeks, thyroid function tests and a thyroid ultrasound were obtained. An abnormal ultrasound was followed by a (99m)Tc thyroid scan. A perchlorate washout test was performed in subjects with a normal ultrasound but abnormal thyroid function tests. Children with normal results were followed for 1 year. RESULTS: Of 33 children, 17 were boys. Nine (27%) had an absent or ectopic thyroid, 12 (36%) had dyshormonogenesis, and 12 (36%) had transient CH. Average thyroxine dose before medication discontinuation was 2.9 +/- 0.83 microg/kg in permanent cases versus 2.0 +/- 0.53 microg/kg in transient (P <.002). No complications from discontinuation of thyroxine occurred. CONCLUSIONS: A significant percentage of children with CH have a transient requirement for thyroid hormone. A standardized protocol with thyroid ultrasonography is a safe and sensitive approach to a trial off of thyroxine in select patients.

Algorithms↗
PubMed2005

Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome.

In a patient with a somatic mutation in the CD95 gene, the long-term evolution of the clinical phenotype was indistinguishable from that of patients with autoimmune lymphoproliferative syndrome caused by germline CD95 mutations. A new diagnostic algorithm for autoimmune lymphoproliferative syndrome is suggested incorporating studies on sorted TCRalpha/beta+CD3+CD8-CD4- T cells.

Algorithms↗
PubMed2006

Superiority of N-methyl pyrrolidone over albumin with hypericin for fluorescence diagnosis of human bladder cancer cells implanted in the chick chorioallantoic membrane model.

Formulations of hypericin (HY) with plasma protein have been conventionally used, but to date, no alternative pharmaceutical formulation has been developed for clinical use. Previously, it was reported that formulation of HY containing a biocompatible solvent and penetration enhancer, N-methyl pyrrolidone (NMP) was found to be effective for the delivery of HY across in vivo chick chorioallantoic membrane (CAM). This present study reports further investigations on the HY-NMP formulations in CAM implanted with human bladder cancer cells as a potential fluorescence diagnostic agent of cancer. The conventional formulation of HY (HY-HSA 0.5%) was included as control. The red-to-blue (I(R)/I(B)) intensity ratio of fluorescence images was used as a diagnostic algorithm, to differentiate the uptake of HY between tumor and adjacent regions on CAM. Results indicated that HY-NMP 0.05% was significantly better than HY-HSA 0.5%. The findings of the I(R)/I(B) ratios between tumor and adjacent tissues, indicated the potential of using NMP as an alternative to plasma protein in clinical fluorescence diagnosis with HY. The NMP formulations investigated were able to produce significantly higher contrast for tumor tissues and at earlier time points than was possible with HY-HSA 0.5%.

Animals↗
PubMed2006

Identification of cell lines permissive for human coronavirus NL63.

Six cell lines routinely used in laboratories were tested for permissiveness to the infection with the newly identified human coronavirus NL63. Two monkey epithelial cell lines, LLC-MK2 and Vero-B4, showed a cytopathic effect (CPE) and clear viral replication, whereas no CPE or replication was observed in human lung fibroblasts MRC-5s. In Rhabdomyosarcoma cells, Madin-Darby-Canine-kidney cells and in an undefined monkey kidney cell line some replication was observed but massive exponential rise in virus yield lacked The results will lead to an improved routine diagnostic algorithm for the detection of the human coronavirus NL63.

Animals↗
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↗
PubMed2005

The burden of pneumonia in children: an Asian perspective.

Pneumonia results in two million deaths each year among children worldwide (20% of all child deaths), 70% of them in Africa and South-east Asia. Most countries in Africa and Asia record 2-10 times more children with pneumonia (7-40/100 annually) than in the USA. Apart from resource constraints and an overburdened health system, there is lack of uniformity in defining pneumonia. Most nations employ a WHO standard case management protocol using age-specific cut-offs for increased respiratory rates and chest in-drawing for a clinical definition of pneumonia. The limited data available on the causative organisms have identified Streptococcus pneumoniae, Haemophilus influenzae and viruses such as respiratory syncytial virus (RSV), influenza, para influenza and adenoviruses as the major pathogens. Measles infection increases pneumonia morbidity and mortality. Low birth weight, under-nutrition, hypovitaminosis A, zinc deficiency, lack of breastfeeding, air pollution (including environmental tobacco smoke) and over-crowding increase the risk for pneumonias in children. Standard case management protocols used for acute respiratory infections (ARIs) in these countries have brought down the disease burden but an improvement in the diagnostic algorithm is needed to appropriately recognise those with associated wheeze. Research is needed to find effective and affordable preventive strategies.

Air Pollution↗