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The diagnostic yield of a standardized approach to idiopathic sensory-predominant neuropathy.

BACKGROUND: Peripheral neuropathy is a common problem that often prompts a lengthy and expensive diagnostic evaluation. A rational, evidence-based diagnostic approach to peripheral neuropathy is desirable. Prior studies have focused on all patients presenting to a tertiary referral center with a diagnosis of unclassified neuropathy. However, most patients with peripheral neuropathy have primarily sensory symptoms. This study focuses on patients with sensory-predominant neuropathy. The goal was to develop a focused diagnostic algorithm that can be easily applied in a general medical setting. METHODS: Patients referred with predominantly sensory symptoms and no previously defined cause were included and evaluated using a standard diagnostic approach. RESULTS: Among 138 patients, 25% had at least 1 first-degree relative with symptoms suggestive of neuropathy. Among laboratory studies, a 2-hour oral glucose tolerance test had the highest diagnostic yield (61%) and was more sensitive than other measures of glucose metabolism. Vitamin B(12) deficiency was identified in 2 patients. Results of serum protein electrophoresis, immunofixation, and antinuclear antibody testing were abnormal in less than 5% of patients, and these rates are similar to those found in the general population. Using this approach, only 31% of patients completing the recommended evaluation were found to have an idiopathic neuropathy. CONCLUSIONS: Patients with sensory-predominant neuropathy should be tested for glucose tolerance and vitamin B(12) concentration. The significance of abnormalities of serum protein electrophoresis and antinuclear antibodies is uncertain. Other tests should be performed only when the clinical scenario is suggestive. Patients with atypical features may benefit from referral to a peripheral neuropathy center.

Adult↗

Clinical features of amyotrophic lateral sclerosis according to the El Escorial and Airlie House diagnostic criteria: A population-based study.

BACKGROUND: The El Escorial and the revised Airlie House diagnostic criteria for amyotrophic lateral sclerosis (ALS) classify patients into categories reflecting different levels of diagnostic certainty. We conducted a prospective, population-based study of the natural course of ALS in the Republic of Ireland during a 6-year period to examine the utility of these ALS diagnostic criteria. METHODS: Using data from the Irish ALS Register, we studied the clinical features of all patients diagnosed as having ALS in Ireland throughout their illness. RESULTS: Between 1993 and 1998, 388 patients were diagnosed as having ALS. Forty percent of patients reported bulbar-onset symptoms. Disease progression occurred over time: at last follow-up, 75% of all patients had bulbar signs, compared with 59% at diagnosis. When the El Escorial criteria were applied, more than half of patients (218 [56%]) had definite or probable ALS at diagnosis. Of the 165 possible and suspected ALS cases at diagnosis (trial ineligible), 110 (67%) were trial eligible at last follow-up. Of the 254 patients who had died, 229 (90%) had definite or probable ALS, whereas 25 patients (10%) remained trial ineligible at death. El Escorial category at diagnosis was not a significant prognostic indicator. Use of the Airlie House criteria had no effect on the median time from symptom onset to trial eligibility (12.9 vs 12.8 months). CONCLUSIONS: The El Escorial and Airlie House diagnostic criteria are excessively restrictive. Furthermore, levels of diagnostic certainty cannot be used as prognostic indicators. Arch Neurol. 2000;57:1171-1176

Adult↗

Unilateral sinonasal disease without bone destruction. Differential diagnosis using diagnostic imaging and endonasal endoscopic biopsy.

OBJECTIVE: To evaluate the diagnostic algorithms leading to minimal-access surgery in unilateral sinonasal disease without evidence of bone destruction. DESIGN: In selected patients, we assigned qualitative preoperative diagnoses by performing computed tomography (CT), magnetic resonance imaging (MRI), and endonasal endoscopic biopsy and prospectively analyzed the results for 3 years, from 1992 to 1995. PATIENTS: Of 278 untreated patients who complained of nasal and sinus-related symptoms and underwent CT examinations, 130 were found to have unilateral sinonasal abnormalities without detectable changes in the bone structure. RESULTS: Accurate preoperative diagnoses were made using CT in 75% of the patients with chronic sinusitis with or without nasal polyps and 85% of the patients with mucoceles. In the remaining patients, preoperative diagnoses for both diseases were made using MRI. All fungal and vascular diseases were accurately diagnosed using MRI alone. Although neither CT nor MRI were useful in the qualitative diagnosis of neoplasm, the presence of neoplastic conditions, except papilloma, was indicated by MRI. Using endonasal endoscopy, biopsy was an accurate diagnostic tool, with minimal tissue damage, in 88% of the neoplasms. CONCLUSIONS: In differentiating untreated unilateral sinonasal disease without evidence of bone destruction, we conclude that CT is the first modality of diagnostic imaging and MRI is more sensitive than CT in identifying fungal disease and angiofibroma. Furthermore, MRI is helpful when neoplasm is indicated, but it is not an accurate diagnostic tool. The endonasal endoscopic approach for obtaining pathologic specimens is a qualitative diagnostic tool in the diagnosis of sinonasal neoplasm.

Adult↗

Renard diagnostic interview. Its reliability and procedural validity with physicians and lay interviewers.

A psychiatric diagnostic interview that can be reliably and validly administered by nonpsychiatric physicians and lay interviewers has both research and clinical applications. We examined the interrater reliability and procedural validity of the Renard Diagnostic Interview (RDI), an instrument designed for these purposes. Randomly selected psychiatric inpatients were interviewed once by a psychiatrist using our standard departmental research interview and were then given RDIs by two psychiatrists, two lay interviewers, or one of each. The reliability of the RDI is estimated by examining diagnostic concordance for the two RDI interviews. Procedural validity is estimated by examining diagnostic concordance between the RDI and the traditional departmental interview. Both reliability and procedural validity were found to be high, and the study demonstrates that lay interviewers using the RDI after a brief period of training can obtain accurate diagnostic information.

Humans↗

Test-retest reliability of the Diagnostic Interview Schedule for Children (DISC 2.1). Parent, child, and combined algorithms.

BACKGROUND: Previous research has not compared the psychometric properties of diagnostic interviews of community samples and clinically referred subjects within a single study. As part of a multisite cooperative agreement study funded by the National Institute of Mental Health, 97 families with clinically referred children and 278 families identified through community sampling procedures participated in a test-retest study of version 2.1 of the Diagnostic Interview Schedule for Children (DISC 2.1). METHODS: The DISC was separately administered to children and parents, and diagnoses were derived from computer algorithms keyed to DSM-III-R criteria. Three sets of diagnoses were obtained, based on parent information only (DISC-P), child information only (DISC-C), and information from either or both (DISC-PC). RESULTS: Test-retest reliabilities of the DISC-PC ranged from moderate to substantial for diagnoses in the clinical sample. Test-retest kappa coefficients were higher for the clinical sample than for the community sample. The DISC-PC algorithm generally had higher reliabilities than the algorithms that relied on single informants. Unreliability was primarily due to diagnostic attenuation at time 2. Attenuation was greatest among child informants and less severe cases and in the community sample. CONCLUSIONS: Test-retest reliability findings were consistent with or superior to those reported in previous studies. Results support the usefulness of the DISC in further clinical and epidemiologic research; however, closely spaced or repeated DISC interviews may result in significant diagnostic attenuation on retest. Further studies of the test-retest attenuation phenomena are needed, including careful examination of the child, family, and illness characteristics of diagnostic stability.

Adolescent↗

Improving diagnostic accuracy and interobserver concordance in the classification and grading of primary gliomas.

BACKGROUND: Accurate histologic diagnosis of gliomas is fundamental to proper patient management and to the interpretation of basic and clinical investigations. Diagnostic accuracy and reproducibility are compromised by the subjective histologic criteria currently used to classify and grade gliomas. METHODS: The histologic features of 4 sets of gliomas (a total of 244 cases) were reviewed independently by 4 neuropathologists to determine interobserver diagnostic concordance rates. Cases wherein diagnostic disagreements arose were reviewed jointly to identify and refine the histologic criteria that were adversely affecting diagnostic reproducibility. Using the criteria developed in the study, a set of 315 gliomas with known survival data was evaluated in order to validate the usefulness of the criteria. RESULTS: There was significant improvement in diagnostic concordance with each session (P = 0.02). For the first session, the concordance rates were as follows: all 4 reviewers, 52%; any 3 reviewers, 60%; 2 reviewers, 70%. For the fourth session, the respective rates were 69%, 75%, and 80%. Although features important in grading, particularly microvascular proliferation, were sometimes problematic, most disagreements related to the classification of tumors. Much of the improvement related to the refinement of criteria distinguishing diffuse astrocytomas from oligodendrogliomas/oligoastrocytomas and pilocytic astrocytomas. It was concluded that the presence of any typical oligodendroglioma was sufficient to remove a tumor from the astrocytoma category. CONCLUSIONS: The authors' data indicate that oligodendroglial tumors comprise up to 25% of gliomas, a significantly higher proportion than was previously recognized. The data also suggest that the wide range of survival times reported for patients with anaplastic astrocytoma may reflect "contamination" resulting from misdiagnosis, particularly of oligodendroglial tumors and pilocytic astrocytomas.

Brain Neoplasms↗

A marginal regression modelling framework for evaluating medical diagnostic tests.

Technological advances continue to develop for early detection of disease. Research studies are required to define the statistical properties of such screening or diagnostic tests. However, statistical methodology currently used to evaluate diagnostic tests is limited. We propose the use of marginal regression models with robust sandwich variance estimators to make inference about the sensitivity and specificity of diagnostic tests. This method is more flexible than standard methods in that it allows comparison of sensitivity between two or more tests even if all tests are not carried out on all subjects, it can accommodate correlated data, and the effect of covariates can be evaluated. This last feature is important since it allows researchers to understand the effects on sensitivity and specificity of various environmental and patient characteristics. If such factors are under the control of the clinician, it provides the opportunity to modify the diagnostic testing program to maximize sensitivity and/or specificity. We show that the marginal regression modelling methods generalize standard statistical methods. In particular, when we compare two screening tests and we test each subject with both screens, the method corresponds to McNemar's test. We describe data from an ongoing audiology screening study and we analyse a simulated version of the data to illustrate the methodology. We also analyse data from a longitudinal study of PCR as a diagnostic test for cytomegalovirus.

Adult↗

Stickler syndrome: clinical characteristics and diagnostic criteria.

The purpose of this study was to establish diagnostic criteria for Stickler syndrome. Ninety patients from 38 families had complete evaluations for possible Stickler syndrome. Molecular confirmation of COL2A1 mutation status (type I Stickler syndrome) was available on 25 patients from six families. In the remaining 65 patients, 47 from 25 families were affected with Stickler syndrome and 18 from seven families were unaffected with Stickler syndrome. A diagnostic nosology based on type I Stickler patients with known COL2A1 mutations was applied to clinically affected and unaffected patients. A diagnostic scale of 9 points evaluated molecular data or family history data and characteristic ocular, orofacial, auditory, and musculoskeletal findings. A score of > or =5 was diagnostic of Stickler syndrome. These criteria demonstrate 100% sensitivity when applied to type I Stickler syndrome patients with known COL2A1 mutations, 98% sensitivity when applied to clinically affected Stickler patients, and 86% specificity when applied to patients unaffected based on clinical and/or molecular analysis. We conclude that diagnostic criteria based on type I Stickler patients with molecularly confirmed COL2A1 mutations appear to be sensitive and specific for the diagnosis of this syndrome and should be helpful to clinicians when making the diagnosis.

Abnormalities, Multiple↗

Should interventional cardiac catheterization procedures take place at the time of diagnostic procedures?

BACKGROUND: In many cardiac catheterization laboratories interventional procedures are performed at a date later than the diagnostic study, causing increased hospital days and costs. Few data exist which compare procedural success, complications, and costs between procedures performed at the time of diagnostic study and those performed later. HYPOTHESIS: The purpose of this study was to evaluate the safety and success of same-day interventional procedures and to quantitate hospital cost savings with this strategy. METHOD: In all, 357 consecutive patients who underwent an elective interventional procedure of a native coronary artery either at the time of diagnostic study (same day, n = 244) or later (delayed, n = 113) were reviewed. Procedural success [< 30% residual lesion post-percutaneous transluminal coronary angioplasty (PTCA) or 0% residual lesion post-stent], major complications [death, emergent coronary artery bypass grafting (CABG), myocardial infarction, and ventricular fibrillation], hospital days, and costs were analyzed. Procedural expense, including the diagnostic and interventional procedure in the cardiac catheterization laboratory, and hospital expense were analyzed. RESULTS: Both groups were similar in terms of age, gender, coronary risk factors, indications (myocardial infarction, unstable angina, abnormal stress test), the culprit coronary artery, type of intervention (PTCA, stent), and lesion complexity (type A, B, C). The average hospital stay for the two groups was 4.37 +/- 2 and 6.55 +/- 2.4 days, respectively (p < 0.0001). The procedural charges were $8,207.99 and 10,581.87, respectively (p < 0.0001). CONCLUSION: Catheter intervention performed at the same time as the diagnostic cardiac catheterization procedure is as successful and as safe as that performed at a later date. Hospital stay and costs, as well as procedural expenses are significantly reduced by this practice.

Adult↗

Diagnostic value and prognostic significance of protein S-100beta, melanoma-inhibitory activity, and tyrosinase/MART-1 reverse transcription-polymerase chain reaction in the follow-up of high-risk melanoma patients.

BACKGROUND: Cutaneous melanoma is the most aggressive form of skin carcinoma in humans, frequently with a rapid progression of disease. To detect early developing metastasis, laboratory tests to determine levels of lactate dehydrogenase (LDH) and alkaline phosphatase (AP) form part of the regular follow-up, but often cannot discover recurrent disease at a sufficiently early stage. METHODS: To evaluate the diagnostic accuracy of protein S-100beta (S-100beta), melanoma-inhibitory activity (MIA), LDH, AP, and tyrosinase/MART-1 reverse transcription-polymerase chain reaction (RT-PCR), the authors included 296 consecutive AJCC Stage II or III clinically disease-free melanoma patients. Follow-up examinations were performed every 3 months and blood samples were drawn to determine the levels of these tumor markers. RESULTS: Metastasis occurred in 41 of the 296 patients during a median follow-up period of 19 months (range, 1-33 months). The sensitivity to detect new metastases was 29% for protein S-100beta, 22% for MIA, 2% for LDH, 17% for AP, and 24% for RT-PCR. The diagnostic accuracy was best for MIA (86%) and S-100beta (84%), whereas AP (79%), LDH (77%), and RT-PCR (72%) demonstrated lower values. Elevated values of S-100beta and MIA during follow-up examinations were associated with decreased survival rates in the further course of the disease, but pathologic findings of the other tumor markers showed no prognostic impact. CONCLUSIONS: To the authors' knowledge, the current study is the first comparison of the diagnostic accuracy of currently available tumor markers in the follow-up of high-risk melanoma patients. Protein S-100beta and MIA demonstrated a higher sensitivity, specificity, and diagnostic accuracy in the diagnosis of newly occurring metastasis compared with to the tumor markers AP, LDH, and RT-PCR diagnostics. Therefore, the tumor markers S-100beta and MIA may be useful in the follow-up of disease-free Stage II and III melanoma patients.

Adult↗

Diagnostic mammography performance and race: outcomes in Black and White women.

BACKGROUND: A previous study compared the performance (sensitivity, specificity, positive predictive value, and cancer detection rate) of screening mammography in Black and White women. No study, to the authors' knowledge, has evaluated the difference in the performance of diagnostic mammography between Black and White women. METHODS: Univariate analysis was used to evaluate differences in characteristics and cancers between Black and White women. Stratified and adjusted logistic regression analyses were used to test the association of Black and White race with performance measures of diagnostic mammography. RESULTS: The sensitivity of diagnostic mammography was higher (91% vs. 84%) and specificity was lower (86% vs. 90%) among Black women compared with White women. After controlling for age, density, self-reported breast problems, and previous mammography, sensitivity was significantly higher (odds ratio [OR] = 1.82, 95% confidence interval [CI] = 1.22-2.80) and specificity was significantly lower (OR = 0.75, 95% CI = 0.70-0.81) among Black women. The crude cancer detection rate of mammography was higher for Black women (42.6/1000) than for White women (31.0/1000) and Black women had a higher proportion of cancers that were > 2.0 cm (57.4% vs. 46.2%) that were more often poorly differentiated (61.7% vs. 49.3%) and were more often estrogen-receptor and progesterone-receptor negative. CONCLUSIONS: Black women have lower specificity of diagnostic mammography and, consequently, more unnecessary workups than White women. Black women have higher sensitivity of diagnostic mammography, with cancers that are larger and more advanced than White women. Delay in responding to signs and symptoms would explain the size and later stage. However, more research is needed to understand the biologic differences of breast cancer characteristics between Black and White women.

Adult↗

Assessment of atypical glandular cell interpretation in Pap tests using the Hologic Genius Digital Diagnostics System.

Atypical glandular cells (AGC) are a diagnostic challenge. The aim of this study was to evaluate the efficacy and diagnostic performance of AGC detection on the Hologic Genius Digital Diagnostics System (HGDDS). A retrospective analysis of 451 ThinPrep Pap cases was conducted, including 207 cases of AGC, 27 cases of high-grade squamous intraepithelial lesion (HSIL), 25 cases of low-grade squamous intraepithelial lesion (LSIL), and 192 benign cases. All AGC cases had follow-up histologic diagnoses, with 66 cases subsequently diagnosed as adenocarcinoma. The slides were randomized, scanned, and analyzed by the HGDDS. Patient age and HPV test results were provided to reviewers, an experienced cytologist, who screened the cases, followed by two cytopathologists who independently examined the cases on the HGDDS. Diagnostic concordance between the two cytopathologists indicated strong agreement (&#x3ba; = 0.829). Sensitivity of AGC on Papanicolaou (Pap) tests for adenocarcinoma detection on HGDDS was 98.5% and 95.5%, respectively, comparable to the original ThinPrep interpretation (OTPI). Specificity for adenocarcinoma detection was significantly higher (84.6% and 85.6%) with the HGDDS than 27.7% with OTPI. Overall, the diagnostic performance for AGC/HSIL interpretation to detect CIN2/3/adenocarcinoma appeared to have improved with HGDDS compared with OTPI, particularly for specificity and positive predictive value (PPV). This is the first study evaluating AGC diagnosis using the HGDDS. The findings demonstrate that the sensitivity of adenocarcinoma detection as AGC on HGDDS is comparable to the ThinPrep Imaging System, but the specificity and PPV are improved. This suggests the potential of artificial intelligence to augment the performance of cervical cancer screening.

Humans↗

Who refuses the diagnostic assessment for dementia in primary care?

OBJECTIVE: Early screening and detection of dementia in primary care remains controversial. At least half of the patients identified as cognitively impaired by screening instruments do not meet criteria for dementia and some patients refuse further evaluation following a positive screen. The aim of this study was to identify the characteristics of patients who refuse a clinical diagnostic assessment for dementia after screening. DESIGN: Cross sectional study. SETTING: Seven primary care practice centers in Indianapolis. PARTICIPANTS: Four hundred and thirty-four individuals aged 65 and older who screened positive for dementia with a mean age of 74.6, 67% women, and 68% African-American. MAIN OUTCOME MEASURE: Patients' acceptance of undergoing a dementia diagnostic assessment that included neuropsychological testing, caregiver interview, and medical chart review. RESULTS: Among patients with positive screening results for dementia, approximately half (47.7%) refused further assessment to confirm their screening results. In a bivariate analysis, possible factors associated with a higher probability of refusing dementia assessment were older age and better screening score. In a multiple logistic regression model, performing well on the temporal orientation of the screening instrument was associated with a higher probability of refusing diagnostic assessment for dementia (OR = 1.37; p = 0.001). Also, African-American patients aged 80 and older were more likely to refuse the diagnostic assessment than African-Americans less than 80 years of age (OR = 3.1, p < 0.001), while there was no significant age association for white patients (OR = 0.9, p = 0.728). CONCLUSIONS: Older primary care patients who perceived themselves as having no cognitive symptoms refused dementia diagnostic assessment despite their positive screening results. We must improve our understanding of the decision-making process driving patients' beliefs and behaviors about the benefits and risks of dementia screening and diagnosis before implementing any broad-based screening initiatives for dementia.

Black or African American↗

Comparison of the diagnostic accuracy of the Cognitive Performance Scale (Minimum Data Set) and the Mini-Mental State Exam for the detection of cognitive impairment in nursing home residents.

OBJECTIVE: To compare the diagnostic accuracy of an outcome measurement scale of the Minimum Data Set of the Resident Assessment Instrument for nursing homes (MDS/RAI-NH), the Cognitive Performance Scale (CPS) and the Mini-Mental State Exam (MMSE) for the detection of cognitive impairment. The Cambridge Examination for Mental Disorders of the Elderly--Revised (CAMDEX-R) was used as the reference standard. STUDY DESIGN AND SETTING: This study was part of a larger prospective study (QUALIDEM) involving a diagnostic procedure and two-year follow-up on the quality of primary care for demented patients. CAMDEX-R and MDS/RAI-NH were administered to 198 residents, aged 65 or more, living in 42 low and high care institutions for aged people. MAIN OUTCOME MEASURES: Indicators of diagnostic accuracy: sensitivity, specificity, predictive values, likelihood ratios, odds ratio and area under receiver operating characteristics curve (AUC). RESULTS: The CAMDEX-based prevalence of cognitive impairment was 75%. The diagnostic values of a CPS score of two or more for the detection of cognitive impairment were: sensitivity = 0.81; specificity = 0.80; PPV = 0.92; NPV = 0.57. The diagnostic values of a MMSE score of less than or equal 23 were: sensitivity = 0.97; specificity = 0.59; PPV = 0.88; NPV = 0.85. For CPS, the area under the receiver operating characteristic (ROC) curve was 0.87 (95% CI, 0.81-0.91), and not significantly different (p = 0.63) from the MMSE score, 0.88 (0.83-0.93). CONCLUSIONS: CPS and MMSE demonstrated similar performance to detect cognitive impairment in nursing home residents.

Aged↗

Surface EMG recordings and pain-related disorders: a diagnostic framework.

Surface electromyography provides a very valuable set of information when used diagnostically with pain-related disorders. Unfortunately, most researchers and clinicians limit their investigation to only one level of diagnostic information available concerning the neuromuscular system. This article develops and encourages the clinician/researcher to consider three levels of diagnostic information: emotional, organ-related, and postural aspects. The theoretical background and diagnostic procedures used to investigate each is presented. Differential treatment considerations, given differential diagnostic findings, are discussed.

Biofeedback, Psychology↗

A diagnostic system for organic brain disorders: critique and suggestion.

Organic brain disorders (OBD) are among the most complex psychiatric diagnostic problems. A critique of the American Psychiatric Association's Diagnostic and Statistical Manual (DSM II) and the proposed DSM III suggests that the diagnostic outline for organic brain disorders contained in these publications (Organic Brain Syndromes in the DSM II; Organic Mental Syndromes in the proposed DSM III) is inadequate to describe the potential range of organic-based behavioral disorders and their possible organic etiologies. A new diagnostic system is proposed, with examples, of its use, which should fit in with the DSM II and the proposed DSM III and be flexible enough to overcome the problems of the present diagnostic system.

Affective Symptoms↗

[Breast cancer--evaluation of diagnostic procedures (author's transl)].

The different diagnostic procedures used in the diagnosis of breast cancer are discussed. Clinical examination and mammography are the most important diagnostic steps. Needle biopsy with cytology is a very helpful further diagnostic procedure for the so-called triple diagnosis. The most important diagnostic procedure should be the diagnostic extirpation of the tumor with examination by frozen resection.

Adult↗

Acquired hydrocephalus. II. Diagnostic and prognostic value of quantitative isotope ventriculography (QIV), lumbar isotope cisternography (LIC), pneumoencephalography, and continuous intraventricular pressure recording (CIP).

The diagnostic and prognostic values of quantitative isotope ventriculography (QIV), lumbar isotope cisternography (LIC), pneumoencephalography (PEG), and continuous intraventricular pressure recording (CIP) were assessed on the basis of the clinical course in 160 patients suspected of having acquired hydrocephalus. The diagnostic value of a given method is defined as its reliability in the diagnosis of hydrocephalus. The reliability in the selection of hydrocephalic patients who will improve on shunt operation is designated as the prognostic value of the method concerned. As the diagnoses are based on isotopic procedures, the diagnostic values of these procedures cannot be assessed. QIV is of greater prognostic value than the other methods of examination. The presence of plateau waves in CIP is a rare, but prognostically valuable sign. The prognostic value of B waves is also good, whereas their diagnostic value is slight. Both from diagnostic and prognostic points of view, PEG is of less value is communicating hydrocephalus on account of the many false findings.

Cerebral Ventricles↗