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At least 19 recordsLinked to original sources

[Pulp diseases in the deciduous teeth. I. Histopathological changes (correlation between microscopic picture and clinical diagnosis)].

Clinical and histopathological examinations of 85 deciduous molars from children aged between 2.5 and 8 years show considerable disagreement between the microscopical picture and the clinical diagnosis according to the classification of WILGA. This calls in question the appropriateness of the histopathological classification for clinical diagnosis. For this reason, the present study was undertaken to elaborate a new classification of pulpal affections in the deciduous dentition with special regard to the various clinical pictures.

Child

[Pathological analysis of the quality of clinical diagnosis of perinatal diseases].

The features of the method of pathoanatomic analysis of the quality of clinical diagnosis of perinatal diseases based on the nosological principle are discussed. Additional new categories of assessment have been introduced: (1) "the disease is not diagnosed at all", and (2) "the disease of the fetus (baby) is diagnosed correctly but its cause is not stated". Underestimation of the examination of the placenta is considered to be a negative feature. Examples are presented of various categories of the estimation of accuracy of clinical diagnosis, principles of divergence of the clinical and anatomical diagnosis, combined main perinatal disease. With a sufficiently large number of autopsies, the author recommends to carry out pathoanatomical analysis of the quality of the clinical diagnosis of perinatal disease separately by perinatal periods of death, groups of prematurely born and born in time, stillborns and dying newborns, and by groups of diseases typical for the perinatal period (congenital malformations, asphyxia and pneumopathies, birth trauma, infections, disease due to immune conflicts, others).

Autopsy

["Primary" reticulum cell sarcoma of the retina. II. Clinical diagnosis and course after radiotherapy (author's transl)].

A 59-year-old patient with "exudative chorioretinitis" progressed from confluent infiltration of the deep layers of the sensory retina, perivascularly and at the level of the pigmentepithelium to total infiltration of the vitreous. This occurred in spite of all the conventional antiinflammatory therapy. A clinical diagnosis of primary reticulum-cellsarcoma of the retina was made because diagnostic vitrectomy for cytologic study was refused. Radiotherapy with 4000 R by Betatron led to a rapid disappearance of the infiltration in the vitreous and retina and to diffuse subretinal scaring of the entire fundus (histologically confirmed). One year later the patient died in a psychiatrically disoriented state. It is thought that the course after radiotherapy and the histological findings support, although not definitely confirm, the clinical diagnosis. Clinical criteria may suffice for the diagnosis in desperate situations to initiate effective radiotherapy in these fatally ill patients.

Eye Neoplasms

Erroneous clinical diagnosis of leg vein thrombosis in women on oral contraceptives.

Most studies demonstrating an increased risk of venous thromboembolism in women on oral contraceptives are based on clinical manifestations of the disease. Because of the fallibility of the clinical diagnosis of suspected leg vein thrombosis, Doppler ultrasonic evaluation (with a 93% accuracy compared to venography) was performed for clinical manifestations in deep vein thrombosis in 54 women taking birth control pills and 75 women of similar age who were not on contraceptives. The clinical diagnosis was confirmed by Doppler in only 16.7% of the women taking contraceptives and 30.7% of women not taking contraceptives (P = 0.052). This study suggests that the clinical diagnosis of leg vein thrombosis is frequently erroneous, particularly in women taking oral contraceptives. Future investigations reporting venous thromboembolism associated with oral contraceptives should be based on diagnoses validated by accurate objective techniques.

Adolescent

[Analysis of the quality of clinical diagnosis from generalized findings of the pathologoanatomic service].

A statistical analysis of generalized data of the pathoanatomical service on quality of clinical diagnosis in curative-prophylactic institutions in 54 administrative territories of the RSFSR was carried out. The structure (extensive indices) and frequency (intensive indices)of erroneous clinical diagnoses referring to the most important classes of diseases were identified. As to the structure of indices and frequency of clinico-anatomic disparities the first place was occupied by oncological diseases (20.1+/-0.11 and 14.2+/-0.22%), the second--by infectious diseases (16.5+/-0.1 and 13.0+/-0.34%), the third--by diseases of the digestive system (14.6+/-0.09 and 13.0+/-0.33%), the forth--by diseases of the urogenital system (14.0+/-0.09 and 12.2+/-0.49%), the fifth--by disease of the respiratory system (12.7+/-0.09 and 10.6+/-0.24%), the sixth--by diseases of the cardiovascular system (11.1+/-0.08 and 8.0+/-0.14%). The recommendation is put forward to carry on annually a complex satistical analysis of extensive and intensive indices of erroneous clinical diagnoses demonstrating the quality of clinical diagnosis in therapeutic institutions of a given administrative territory.

Diagnostic Errors

The clinical diagnosis of insulinoma.

Based on the literature and on experience and on experience with 23 cases the clinical diagnosis of insulinomas is reviewed. In clinical praxis the diagnostic steps can usually be simplified to a demonstration of fasting, symptomatic hypoglycaemia. Hence, we have used the 72-hour fast as the single diagnostic test for insulinomas during the last 5 years. Pro-insulin measurements may be a valuable supplementary tool. Other diagnostic tests are probably of little importance.

Adenoma, Islet Cell

[Coronary angiographic findings in 308 patients with the clinical diagnosis of intramural myocardial infarction (author's transl)].

308 patients with the clinical diagnosis of intramural myocardial infarction made elsewhere were re-investigated more than eight weeks after the acute event. ECGs and pulmonary "wedge" pressures were recorded at rest and during exercise and coronary angiography performed (Sones' or Judkin's technique). In the first group (1973/74) of 77 patients, 35 (45.5%) had a normal coronary angiogram, compared with 0.7% in a control group with transmural myocardial infarction. A normal coronary angiogram was found in 85% of the 40 patients who had no angina during exercise. In a second group (1974/77) of 231 patients, there was a steady decrease in the number of patients without angina pectoris during exercise, in parallel with a decrease in the number of those with normal coronary angiograms. This change in pattern was apparently due to improved diagnosis in the referring hospitals. Of the 37 patients (first group) with angina during exercise, all but one were subsequently found to have significant coronary arteriosclerosis. It is suggested that most patients with a normal coronary angiogram had sustained a myocarditis and (or) pericarditis which produced the symptoms and the altered ECGs, leading to the misinterpretation of "intramural myocardial infarction".

Adult

[Problems of the clinical diagnosis of myocarditis].

Anamnesis, clinical findings, changes of the ECG, findings of X-ray examinations and biological reactions in 39 patients with myocarditis are discussed. For the diagnosis of myocarditis are discussed. For the diagnosis of myocarditis changes of the ECG, enlargement of the heart, cardiac insufficiency and disturbances of rhythm are of greatest importance. Changes in the ST-T-segment are non-specific. An exact anamnesis and a comparison with previous findings (X-ray serial examination, ECG) may give decisive hints. Biological reactions are often unreliable in making the diagnosis. There are no typical symptoms and findings for the diagnosis of the inflammatory disease of the myocardium. In the individual case the diagnosis of a myocarditis may be a tentative or excluded diagnosis.

Adolescent

Right ventricular infarction. Clinical diagnosis and differentiation from cardiac tamponade and pericardial constriction.

Twelve patients with a clinical diagnosis of right ventricular infarction are described. All had acute inferior wall myocardial infarction associated with the bedside findings of jugular venous distension, clear lungs on auscultation, and arterial hypotension. Hemodynamically, there was elevation of right-sided filling pressures not explained by normal or minimally elevated pulmonary wedge pressures. Four patients had an incorrect diagnosis of acute cardiac tamponade. However, a review of the data showed that the hemodynamic features of right ventricular infarction more closely resemble those of pericardial constriction, a point that may be helpful in distinguishing right ventricular infarction from cardiac tamponade. Invasive and noninvasive techniques that exclude the presence of pericardial fluid and suggest enlargement and abnormal contractility of the right ventricle were helpful in establishing the diagnosis of right ventricular infarction in several patients.

Aged

[Impaired visual perception in progressive multifocal leukoencephalopathy; a clinical diagnosis based on sequential computerized axial tomography (author's transl)].

Progressive multifocal leukoencephalopathy (PML) is a viral illness affecting principally cerebral white matter of patients, who have diminished immunologic resistance. A patient is presented, whose initial complaint was blurred vision. Relentless progression over a period of seven months to left hemianopsia, prosopagnosia, alexia with agraphia and eventually cortical blindness was observed. Accompanying the visual impairment was a steady deterioration of mental function. Sequential computerized axial tomography defined low density lesions in the occipital white matter with sparing of the cortical ribbon. As hemianopsia progressed to cortical blindness, the scans confirmed the evolution of bilaterial occipital lesions. The diagnosis was made clinically and established on histological and cultural grounds. Computerized tomography seems to be valuable in diagnosis and monitoring progress of PML.

Aged

Dynamic decision models for clinical diagnosis.

A unified approach to clinical decision-making is presented. This combines partially observable Markovian decision processes (Markov or semi-Markov) with cause-effect models as a probabilistic representation of the diagnostic process. Pattern recognition techniques are used in a first stage of system state identification. This new class of dynamic models has a direct application to medical diagnosis and treatment and specific physiological examples are emphasised. The methodology is given for combining the patient state of health, the clinician's state of knowledge of the cause-effect representation from the observation space (measurements), feature selection using pattern recognition techniques and, finally, the treatment decisions with which to restore the patient to a more desirable state of health. A cost functional for the decision process has then to be optimised according to some pre-assigned objective function (social return from the patient state of health or treatment cost for the patient), when the process has an infinite time horizon.

Computers

Sarcoidosis: histopathological definition and clinical diagnosis.

Sarcoidosis is best defined in histopathological terms as 'a disease characterised by the presence in all of several affected organs and tissues of non-caseating epithelioid-cell granulomas, proceeding either to resolution or to conversion into hyaline connective tissue'. Although the defining characteristics are thus histopathological, diagnosis during life depends largely upon clinical, radiological, and immunological findings. The amount of support required from histology varies greatly from case to case. Though histology from one site cannot in itself establish the diagnosis of sarcoidosis, a generalised disease, detailed histological study of biopsy tissue makes an important and often essential contribution. In many instances, complete lack of necrosis, an intact reticulin pattern, and failure to demonstrate infective agents permit an unequivocal statement of compatibility with this diagnosis; however, a compatible clinical picture and absence of evidence of known causes of local granulomatous reactions or of other generalised granulomatous diseases are required for definitive diagnosis. In some, the histological pattern deviates in some particular from the accepted 'typical' pattern; there may be a little necrosis, the follicular pattern of the granuloma may be less than perfect, and exclusion of known infective agents can never be absolute. In such instances, subsequent surveillance, including possible response to treatment, may show a clinical course justifying a diagnosis of sarcoidosis, and necropsy may establish it; but it must be recognised that in a few cases, particularly those in which the clinical evidence of disease is confined to one organ, diagnosis is likely to remain in doubt for long periods. Reports on the histology of the Kveim test should be made without knowledge of clinical findings and in terms of the presence and quality of granulomatous response. A granulomatous reaction to a validated test suspension makes a contribution to diagnosis similar to the finding of granulomas in an additional organ or tissue.

Adult

The prevalence and clinical diagnosis of vaginal candidosis in non-pregnant patients with vaginal discharge and pruritus vulvae.

Two hundred and thirteen nonpregnant female patients complaining of vaginal discharge or pruritus vulvae were recruited to the study by 45 general practitioners in the Yorkshire region. Of these patients, 102 (48 per cent) were found to have demonstrable vaginal mycosis on an initial swab and a further 10 to be swab positive after one week of placebo treatment. The total prevalence in this population of women consulting their practitioner was thus 52.6 per cent.Analysis of symptomatology and of physical findings showed that a clinical diagnosis of vaginal mycosis cannot be made with acceptable reliability.The occurrence of spontaneous swab conversion is noted, and its possible origins are discussed.

Female

First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene.

Familial Adult Myoclonic Epilepsy type 3 (FAME3) is a rare autosomal dominant disorder characterized by cortical tremor and epilepsy, caused by a noncoding pentanucleotide repeat expansion (TTTTA/TTTCA)n in the MARCHF6 gene. Conventional genetic testing often fails to detect this expansion due to its repetitive structure and intronic location. We evaluated a 61-year-old woman with refractory myoclonic and generalized tonic-clonic seizures, whose prior genetic testing-including exome and genome sequencing-was non-diagnostic. Using PacBio HiFi long-read whole-genome sequencing and the tandem repeat genotyping tool TRGT, we identified a pathogenic MARCHF6 intronic expansion. The proband harbored one allele with 15 TTTTA repeats and a second allele with a compound expansion of 661 TTTTA and 12 TTTCA repeats. Three affected relatives shared similarly expanded alleles, but with increasing repeat size in the latter generations. Importantly, analysis using TRGT-instability revealed repeat mosaicism in all affected individuals, reflected by variability in motif counts across individual sequencing reads. This somatic heterogeneity may contribute to the phenotypic penetrance, variable expressivity and pleiotropism seen in FAME3 disease expression. To our knowledge, this is the first clinical diagnosis of FAME3 using a commercially available long-read sequencing platform, underscoring its diagnostic utility in resolving complex repeat expansion disorders and uncovering biologically relevant mosaicism.

Humans