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At least 217 records · Page 12Linked to original sources
PubMed1998

Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 in the muscular dystrophies.

Abnormalities of dystrophin, the sarcoglycans, and laminin alpha2 are responsible for a subset of the muscular dystrophies. In this study we aim to characterise the nature and frequency of abnormalities of these proteins in an Australian population and to formulate an investigative algorithm to aid in approaching the diagnosis of the muscular dystrophies. To reduce ascertainment bias, biopsies with dystrophic (n=131) and non-dystrophic myopathic (n=71) changes were studied with antibodies to dystrophin, alpha, beta, and gamma sarcoglycan, beta dystroglycan, and laminin alpha2, and results were correlated with clinical phenotype. Abnormalities of dystrophin, the sarcoglycans, or laminin alpha2 were present in 61/131 (47%) dystrophic biopsies and in 0/71 myopathic biopsies, suggesting that immunocytochemical study of dystrophin, the sarcoglycans, and laminin alpha2 may, in general, be restricted to patients with dystrophic biopsies. Two patients with mutations identified in gamma sarcoglycan had abnormal dystrophin (by immunocytochemistry and immunoblot), showing that abnormalities of dystrophin may be a secondary phenomenon. Therefore, biopsies should not be excluded from sarcoglycan analysis on the basis of abnormal dystrophin alone. The diagnostic yield was highest in those with severe, rapidly progressive limb-girdle weakness (92%). Laminin alpha2 deficiency was identified in 5/131 (4%) patients; 215 patients presented after infancy, indicating that abnormalities of laminin alpha2 are not limited to the congenital muscular dystrophy phenotype. Overall patterns of immunocytochemistry and immunoblotting provided a guide to mutation analysis and, on the basis of this study, we have formulated a diagnostic algorithm to guide the investigation of patients with muscular dystrophy.

Adolescent↗
PubMed1997

Anterior hip pain in the adult: an algorithmic approach to diagnosis.

The adult patient who complains of anterior hip pain is a dilemma frequently encountered by the primary care physician. Detailed history taking, physical examination, and plain x-ray films are indicated for the initial evaluation. Anterior hip pain is often diagnosed as musculoskeletal strain/sprain and treated with a conservative regimen represented by the acronym NICER (nonsteroidal anti-inflammatory drugs, ice, compression, elevation, and rest) with or without physical therapy. On occasion, this therapy fails to eradicate the symptoms. When these symptoms are refractory to diagnosis by conventional means, a more comprehensive evaluation of the etiology is warranted. Refractory pain is defined in the authors' practice as pain that persists after 4 weeks of initial conservative management. This subsequent evaluation includes the use of such laboratory tests as complete blood cell count with differential count, Chem 20 health profile, erythrocyte sedimentation rate, and an arthritic panel (assessment of rheumatoid factor, antinuclear antibody, C-reactive protein). Ancillary radiologic tests warranted include a nuclear bone scan, a magnetic resonance imaging scan, a computed tomography arthrogram with hip aspiration, and/or a scan of white blood cells labeled with indium 111. The test chosen depends on the etiology most suspected. A useful diagnostic algorithm for the investigation of anterior hip pain in the adult is provided. An illustrative case presentation of carcinoma of an unknown primary site presenting as anterior hip pain demonstrates the algorithm as it applies in the authors' practice.

Adenocarcinoma↗
PubMed1998

Diagnosing delirium by telephone.

To determine whether delirium can be diagnosed by telephone, we interviewed 41 subjects aged 65 years or older 1 month after repair of hip fracture, first by telephone and then face-to-face. Interviews included the modified telephone Mini-Mental State Examination and the Delirium Symptom Interview. Delirium was diagnosed using the Confusion Assessment Method diagnostic algorithm, and the telephone results were compared with the face-to-face results (the "gold standard"). Of 41 subjects, 6 were delirious by face-to-face assessment; all 6 were delirious by telephone (sensitivity 1.00). Of 35 patients not delirious by face-to-face assessment, 33 patients were not delirious by telephone (specificity = 0.94). We conclude that telephone interviews can effectively rule out delirium, but the positive diagnosis should be confirmed by a face-to-face assessment, especially in populations with a low prevalence of delirium.

Aged↗
PubMed2026

Respiratory-onset peripartum cardiomyopathy: a systematic review of diagnostic pitfalls and clinical outcomes.

INTRODUCTION: Peripartum cardiomyopathy (PPCM) may initially present with prominent respiratory symptoms that resemble primary pulmonary disease, particularly in late pregnancy and the early postpartum period. In clinical practice, this presentation often triggers alternative diagnostic pathways, introducing delay at a time when rapid cardiac assessment is critical. Although respiratory-dominant presentations are repeatedly described across case-based and observational reports, they have not been systematically examined as a distinct diagnostic pathway within the PPCM literature. CONTENT: This PRISMA-guided systematic review synthesized evidence relating to respiratory-onset presentations of PPCM. Major databases and registers were searched comprehensively. Following screening of 589 records and full-text assessment of 145 reports, 49 studies met inclusion criteria. Twenty studies were qualitatively prioritized for narrative synthesis using ROBIS-informed methodological appraisal. Evidence was examined across diagnostic misclassification patterns, cardiopulmonary mechanisms, differential diagnoses, investigative strategies, and acute and longitudinal management considerations. SUMMARY: Respiratory-led presentations were commonly misattributed to asthma, pneumonia, pulmonary embolism, or perioperative causes, with diagnostic delay frequently reported. Across heterogeneous study designs, cardiogenic pulmonary edema with left-ventricular systolic dysfunction emerged as a recurring unifying mechanism. Early use of echocardiography, natriuretic peptides, and targeted imaging consistently aided differentiation from primary respiratory pathology. Severe clinical deterioration was often described in the context of delayed recognition. OUTLOOK: Respiratory-onset PPCM represents a high-risk diagnostic pathway rather than a discrete disease entity. Prospective registries, standardized diagnostic algorithms, and closer integration of obstetric and cardiopulmonary care are needed to refine early recognition and improve maternal outcomes.

Humans↗
PubMed1997

The occult head and neck primary: to treat or not to treat?

In patients with cervical node metastases from an unknown primary malignancy, there is unresolved controversy regarding the utility of elective irradiation of putative pharyngeal primary sites as part of the management plan. We analysed the experience of the Peter MacCallum Cancer Institute to assess the risk of withholding mucosal irradiation in relation to the diagnostic algorithm used to exclude a primary lesion at the time of initial presentation. Between 1983 and 1992, 69 patients were seen with metastatic squamous or undifferentiated carcinoma in cervical nodes from an unknown primary site. Neck nodal stage was NX or N1 13%; N2 52%; N3 35%. Nodal disease was bilateral in 12% of patients. Investigations included examination under anaesthesia, with or without random biopsies, in 84%, and CT scanning of the head and neck in 55%. Treatment was by surgery alone in four patients, by radiotherapy alone in 23, and by combined modalities in 40. Two patients received no treatment. Seventeen were treated with palliative intent. The radiotherapy fields provided comprehensive coverage of the pharynx in only eight patients and partial coverage in five. The estimated overall 5-year survival was 36%. Eleven primary tumours were detected between 7 months and 7 years after the initial treatment, of which nine were in head and neck sites. This yielded an estimated incidence of 30% at 10 years, which is similar to the risk of the development of a second primary after the successful treatment of a known head and neck cancer. Only three patients (none of whom had a CT scan as part of their initial evaluation) manifested a primary in an unirradiated pharyngeal site within 2 years of treatment. As the accuracy of imaging improves, the risk of missing an occult primary lesion will decrease further. We conclude that the use of standardized diagnostic investigations incorporating modern imaging substantially eliminates the indication for comprehensive elective mucosal irradiation with its consequent morbidity. The overriding priority in patients who present with advanced neck disease is to secure regional control.

Actuarial Analysis↗
PubMed1998

[False aneurysms of lower extremity arteries: noninvasive preop diagnosis with magnetic resonance angiography and Doppler ultrasonography].

The purpose of this study was to work out a diagnostic algorithm to be used in patients surgically treated because of a false aneurysm of arteries supplying the lower limb. The study includes preoperative vessel evaluation as well as treatment results assessment with MRA and US methods. Examinations included until now 16 patients with clinical false aneurysm suspicion. Most cases presented false aneurysms being complications after arterial graft implantation, in two patients, who were not previously operated, diagnosed false aneurysms were the result of injury. We performed 23 examinations (7 of which were postoperative treatment result evaluation examinations). Examinations were performed on MR equipment with a 1.5 T field induction. The 2D TOF with traveling presaturation method was used. Primary data and reconstructed (MIP) angiograms were analyzed by a radiologist having no access to clinical information and previous examination results. Ultrasound duplex doppler examinations were performed with 7 MHz linear probe. The MRA examinations visualized 7 false aneurysms of the lower Y-graft junction. Clinical verification, ultrasonography examinations and surgery confirmed the existence of 6 aneurysms of the Y-graft as well as 5 out of 6 diagnosed in the ileofemoral graft junctions area. The post-traumatic aorta aneurysm and the postarteriographic femoral aneurysm were also confirmed. Two false positive MRA diagnoses were due to dilatation of the artery below the graft junction, in one case it was a dilatation of the vessel below a stenosis. Furthermore, the MRA helped diagnosing stenoses and occlusions in femoral arteries and common iliac artery.

Adult↗
PubMedDate not supplied

A rapid test for infectious and inflammatory enteritis.

BACKGROUND: Inflammatory illnesses are an indication for specific diagnostic studies and possible antimicrobial therapy. The presence of fecal leukocytes has been used as a marker of inflammatory diarrhea; however, microscopic examination of the fecal smear is unreliable if the specimen is transported, refrigerated, frozen, or collected by swab. OBJECTIVE: To evaluate a rapid, sensitive, semiquantitative test for detection of fecal leukocytes using antilactoferrin latex bead agglutination (LFLA), a test that remains sensitive even after specimens are refrigerated, frozen, or stored on swabs. METHODS: LFLA titers were determined in stool specimens from previously healthy volunteers before and after experimental infection with different enteric pathogens and from patients with nosocomial diarrhea caused by Clostridium difficile. RESULTS: Healthy controls and subjects with noninflammatory diarrhea caused by Vibrio cholerae consistently demonstrated LFLA titers less than 1:50. In contrast, subjects with inflammatory diarrhea caused by Shigella species and C difficile had markedly elevated titers. Titers for subjects with experimental shigellosis ranged from 1:50 to 1:3200, with seven (78%) of nine at 1:400 or greater. Titers for patients with C difficile enteritis ranged as high as 1:1200, with six (50%) of 12 at 1:400 or greater. Subjects with experimental enteropathogenic Escherichia coli infection also had elevated titers, ranging from 1:100 to 1:1600, with three (43%) of seven at 1:400 or greater. Titers for subjects with experimental enterotoxigenic E coli infection were moderately elevated, with nine (53%) of 17 ranging from 1:50 to 1:200 (only one [6%] of 17 was > or = 1:400), suggesting a mild inflammatory process. CONCLUSIONS: The fecal LFLA assay distinguishes inflammatory from noninflammatory diarrhea, may provide new information on mildly inflammatory processes, and may be a useful, rapid test in a diagnostic algorithm for acute, infectious diarrheal illnesses.

Communicable Diseases↗
PubMed1984

The design of the Epidemiologic Catchment Area surveys. The control and measurement of error.

Several methods are used to minimize and measure error in the NIMH Epidemiologic Catchment Area program. Sampling methods involve the inclusion of group quarters such as prisons, nursing homes, and mental hospitals in the sample frame and the use of probability sampling throughout. Interviewing, methods include use of identical diagnostic interview protocols, centralized training of interview supervisors, standard instructions to interviewers, and reinterview of a subsample by clinicians. In the area of completion, the methods include a 75% to 80% respondent completion rate, a 95% or greater completion rate for individual questions, use of informant interviews where necessary, and statistical adjustments to correct for low completion rates in some subgroups. Analytic methods include use of a computerized diagnostic algorithm, common estimation formulas on identically formatted data files, and estimation of exact variances that take account of the multistage sample design.

Catchment Area, Health↗
PubMed1982

The changing pattern of hemolytic streptococcal gangrene.

We reviewed nine cases in which either limg-threatening or life-threatening complications developed due to streptococcal infection. Our findings indicate important changes in the pattern of this fulminating illness since its original description in 1924. A higher mortality reflects increased longevity with a greater frequency of impaired host resistance and degenerative diseases involving vital organs. Initial symptoms and signs often mimic acute thrombophlebitis, acute arthritis, deep soft-tissue trauma, or acute vascular occlusion. The emergence of multiple organ failure and serious coagulation disorders are a challenge to current therapy. A diagnostic algorithm was developed to aid in the early diagnosis and management of this life-threatening infection.

Adult↗
PubMed1998

Does the Composite International Diagnostic Interview underdiagnose the eating disorders?

OBJECTIVE: A study was undertaken to assess the procedural validity of the Composite International Diagnostic Interview (CIDI) for the diagnosis of eating disorders. METHOD: The CIDI was administered to 44 patients consecutively admitted to an eating disorders unit. CIDI-generated diagnoses were compared with clinical diagnoses documented in patient files. Discrepancies between diagnoses were examined in detail. RESULTS: A significant level of disagreement was apparent, particularly for anorexia nervosa patients. A large number of patients with symptoms requiring inpatient treatment did not reach criteria using CIDI's diagnostic algorithm. CONCLUSION: Considerable difficulties remain in the use of standardized assessments, such as the CIDI, to diagnose eating disorders. While presenting features of the illness, for example, ego syntonic nature of the illness, secrecy, and denial, may be part of the reason, the questions used by the CIDI appear to be in need of some refinement.

Anorexia Nervosa↗
PubMed1986

Computerized interactive morphometry as a potentially useful tool for the classification of non-Hodgkin's lymphomas.

The use of a simple form of Computerized Interactive Morphometry (CIM) is proposed as a tool to achieve a reproducible classification of non-Hodgkin's lymphomas. This system combines a random sampling method for cells with simple size measurements and additional subjective criteria such as a shape, mitotic counts, and follicular or diffuse features. In this system, which utilizes a high resolution touch screen as interactive peripheral, the video image of the specimen is superimposed to a computer generated reference system which consists of a test area and four fixed points for random sampling of cells and a series of concentric circles to serve as internal standard for nuclear size; the computer tabulates and facilitates data processing. Forty-four lymphoid lesions have been characterized with the CIM system and specific criteria for diagnoses according to the Working Formulation of non-Hodgkin's lymphomas for clinical usage are derived. Studies of inter- and intraobserver variations in data collection are discussed, and a diagnostic algorithm that categorizes non-Hodgkin's lymphomas according to the relative proportions of various lymphoid cells and densities of mitotic counts is proposed. The potential applications of touch screen-based CIM for the study of malignant lymphomas and its practical technical advantages over other quantitative systems based on either gray-level analysis or tracings of cell contours on photographs or digitizer pads are emphasized.

Computers↗
PubMed1995

Issues in the assessment of personality disorder and substance abuse using the Millon Clinical Multiaxial Inventory (MCMI-II).

Substance abuse treatment clients often present other severe mental health problems that affect treatment outcomes. Hence, screening and assessment for psychological distress and personality disorder are an important part of effective treatment, discharge, and aftercare planning. The Millon Clinical Multiaxial Inventory-II (MCMI-II) frequently is used for this purpose. In this paper, several issues of concern to MCMI-II users are addressed. These include the extent to which MCMI-II scales correspond to DSM-III-R disorders; overdiagnosis of disorders using the MCMI-II; accuracy of MCMI-II diagnostic cut-off scores; and the clinical utility of MCMI-II diagnostic algorithms. Approaches to addressing these issues are offered.

Diagnosis, Dual (Psychiatry)↗
PubMedDate not supplied

Hereditary carcinoma syndromes associated with benign head and neck tumors.

Hereditary forms of carcinoma may be associated with benign head and neck tumors. Many of these hereditary carcinoma syndromes present first to the otolaryngologist. Two unusual cases of Gardner's and Muir--Torre's syndromes illustrate the hereditary carcinoma syndromes associated with head and neck lesions. We describe the use of new genetic markers and propose a diagnostic algorithm.

Adult↗
PubMed1993

Study of the fluorescence properties of normal and neoplastic human cervical tissue.

Fluorescence excitation-emission matrices (EEMs) were obtained in vitro for 18 cervical biopsies from 10 patients. At all excitation emission maxima, but especially at 330 nm excitation, 385 nm emission, the average normalized fluorescence intensity of histologically normal tissue is greater statistically than that of histologically abnormal tissue. A diagnostic algorithm based on the relative intensity at 330 nm excitation, 385 nm emission can differentiate histologically normal and abnormal biopsies with a higher sensitivity (89%), but a lower positive predictive value (67%) and specificity (44%) than colposcopy (78%, 88%, 89%, respectively). However, paired comparison of histologically normal and abnormal biopsies from the same patient results in a sensitivity of 75%, positive predictive value of 86% and specificity of 88% for spectroscopic identification of histologic abnormality similar to that of colposcopy. This pilot study indicates that fluorescence spectroscopy may be useful in differentiating normal and abnormal tissue; based on these results, a strategy for in vivo studies is discussed.

Algorithms↗
PubMed1995

Spectroscopic diagnosis of bladder cancer with elastic light scattering.

BACKGROUND AND OBJECTIVES: Recently, significant progress has been made toward the development of optical, noninvasive medical diagnostics. The goal of this study was to evaluate elastic scatter measurements as a tool for diagnosing bladder cancer. STUDY DESIGN/MATERIALS AND METHODS: In vivo measurements on 10 patients with suspected bladder cancer were made with the optical biopsy system (OBS) developed at Los Alamos National Laboratory. Elastic-scatter spectra over the wavelength range 250-800 nm were obtained using a fiber-optic probe through one of the lumens of a urological cystoscope. Measurements were made on putatively normal areas and areas of uncertain abnormality, as well as those suspected to be cancerous. After measurements were made with the OBS, biopsy samples were taken at the measurement sites. Comparisons of the histopathology and the optical spectra were then made. RESULTS AND CONCLUSIONS: A diagnostic algorithm for distinguishing malignant from nonmalignant tissue based on the values of the slopes over the wavelength range 330-370 nm has a sensitivity of 100% and specificity of 97% for the limited number of patients in this study.

Absorption↗
PubMed2026

Emergence of a Novel, Phenotypically Difficult-to-Detect Vancomycin-Resistant Enterococcus faecium Clone (ST117/CT7799).

A significant increase of vancomycin-resistant Enterococcus faecium (VREfm) infections was observed in South-Eastern Austria since 2024. The prolonged outbreak is caused by a novel vanB-VREfm clone (ST117/CT7799, "VREfmstyr"). This study characterizes the atypical difficult-to-detect resistance phenotype and assesses the genomic relatedness of the isolates. Patient and outbreak characteristics were investigated including whole genome sequencing of the isolates. Sensitivity of broth microdilution (BMD), gradient tests (GT), disk diffusion (DD), and automated susceptibility testing (VITEK2) was compared. The performance of commercial screening media was evaluated. From sporadic detections in early 2024 case numbers began to rise during the year. In 30/31 (97%) of all cases, intra-hospital transmission was considered likely and an association with invasive procedures was identified in most cases. Core genome multilocus sequence typing revealed only six allelic differences between VREfmstyr isolates collected in a 12-month period, all belonging to the E. faecium ST117/CT7799 lineage. BMD detected vancomycin resistance (MIC > 4 mg/L) in no more than 16/31 (52%) of isolates after 24 h incubation, while GT and DD misclassified all isolates. Only prolonged incubation improved the performance of these assays. VITEK2 analysis, however, correctly classified all 31 isolates. Of four commercially available VRE-screening agars, only one was capable of detecting VREfmstyr after 24 h incubation. The emergence and clonal dissemination of VREfm ST117/CT7799 reveals a serious diagnostic gap as commonly used diagnostic algorithms fail to reliably detect this resistance phenotype. Our findings should help to further evaluate the true geographical distribution and clinical significance of this novel VREfm clone.

Enterococcus faecium↗
PubMed1995

Identification of mycobacteria to the species level by automated restriction enzyme fragment length polymorphism analysis.

An automated method for the restriction fragment length polymorphism (RFLP) analysis for the differentiation of mycobacteria to the species level is described. After polymerase chain reaction (PCR) amplification of a sequence of the gene encoding the 65-kDa surface antigen common to all mycobacteria the product was investigated by RFLP analysis. For accurate determination of fragment sizes the asymmetrically fluorescein-labelled PCR product was partially digested with restriction site enzymes BstEII and HaeIII. The fragments obtained were analysed electrophoretically using an automated laser fluorescence DNA sequencer. Determination of fragment sizes revealed a deviation of +/- 1 base pair (bp; 0.6%) when compared to expected sizes. The validity of this approach was confirmed by analysing mycobacterial DNA obtained from pure cultures of Mycobacterium (M.) tuberculosis and alcohol-fixed smears as well as paraffin-embedded sputa of patients with culture-proven tuberculosis. Additionally a diagnostic algorithm was established by investigation of cultured M. bovis, M. bovis bacille Calmette-Guérin, M. avium, M. intracellulare and M. fortuitum. The method allows the identification of restriction enzyme sites which are only 40 bp apart. Partial restriction enzyme digestion of asymmetrically fluorescence-labelled PCR products will presumably lead to the discovery of new restriction enzyme sites.

Algorithms↗
PubMed1995

Updated management strategy for patients with cervical osteophytic dysphagia.

Anterior cervical osteophytes impinging upon the pharynx or esophagus constitute a rare cause of dysphagia. In severe cases, surgical removal of these osteophytes can provide symptomatic relief. We describe a patient of this type who failed to improve postoperatively, only to be found subsequently to have a carcinoma of the base of the tongue. To assist other clinicians in evaluating similar patients, and also to emphasize the great utility of modern radiologic techniques in these cases, we propose a diagnostic algorithm that incorporates magnetic resonance or computerized tomographic imaging.

Aged↗