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PubMedDate not supplied

[From diagnosis to decision--decision processes of women in the context of prenatal diagnosis].

Prenatal diagnosis is a growth industry. The constant introduction of new prenatal tests poses great challenges to prospective parents. In Germany, guidelines for prenatal care include an early nuchal-translucency-sonogram as a routine screening for down syndrome. Developer of this screening predict a 90% discovery rate. This rate can be achieved through the combination of early maternal serum examinations, computer assisted risk calculation and the nuchal-translucency measurement. The extensive use of diverse new technologies is driven by two forces; first, the parents' fear of giving birth to a child with a disability, and second, the offensive marketing strategies by the test-making industry. The information that these tests can yield is vast, yet parents' range of choices in response to these test results remain very limited. After a battery of diagnostic tests, parents confronted with the diagnosis of down syndrome can choose only between continuing or terminating the pregnancy. In the future, more and more women and their partners will be confronted with such a difficult decision. Adequate professional counseling is needed to help parents cope with the critical life event of being told a positive test result. Solutions have to be developed on an individual basis and need to be grounded on the parents' needs. Informing parents of a positive diagnosis can be a challenging moment in professional life. The professional needs to act with sensitivity and competence. The informations he or she provides have to been well balanced. It is necessary to develop quality assurance standards for counseling, diagnosis and crisis intervention.

Abortion, Eugenic↗

PubMed2001

[Genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by restriction endonucleases digestion of PCR product].

OBJECTIVE: To establish an efficient and rapid method for genetic diagnosis and prenatal diagnosis of spinal muscular atrophy (SMA). METHODS: 11 SMA patients were detected for the deletion and mutation in the survival motor neuron (SMN) gene by restriction endonucleases digestion of PCR products based on the difference between the two homologous copies of SMN. Linkage analysis was performed using four (CA) n repeats. RESULTS: Both eon 7 and exon 8 were deleted in 10 patients. Only exon 7 deletion was found in one patient. Prenatal diagnosis of four SMA pedigrees was performed by restriction endonucleases digestion. SMN gene fragments of three fetuses were different from those of probands, and the SMN gene fragments of one fetus was the same as those of proband. CONCLUSION: Restriction endonucleases digestion of PCR products is an efficient and rapid method for diagnosis of SMA.

Cyclic AMP Response Element-Binding Protein↗

PubMed2003

Triple diagnosis: dual diagnosis and HIV disease, Part 1.

Substance use disorders and psychiatric illness commonly co-occur in what is known as dual diagnosis. With the spread of HIV infection in persons with dual diagnoses, the triple diagnosis has emerged as a clinically challenging condition for primary care physicians, addiction medicine specialists, and psychiatrists. Existing data support the high prevalence of triple-diagnosis patients in psychiatric, substance abuse, and HIV treatment settings. This review highlights the features of substance abuse-psychiatric illness and its association with changes in antiretroviral therapy use, adherence, and HIV treatment outcomes. An integrated and interdisciplinary approach addressing substance abuse and mental health issues should be a primary element of comprehensive HIV care. Evaluating the safety and efficacy of psychopharmacologic and psychotherapeutic interventions and understanding the complex interactions among the components of the triple diagnosis are areas for future research. Service delivery and intervention models based on "1-stop shopping" should be developed and put into practice in order to optimize clinical outcomes.

Anti-HIV Agents↗

PubMed1992

[Retrospective diagnosis of a sample of patients discharged with a diagnosis of schizophrenia].

A retrospective diagnosis was obtained from a sample of 300 patients discharged from the Psychiatric Hospital of Maracaibo (Venezuela), with the clinical diagnosis of schizophrenia. These medical records were evaluated under DSM-III criteria, by two psychiatrists using structured formats. We found that 46.3% of the patients met the criteria corresponding to the schizophrenic disorder; from the remaining 53.6%, 19.6% did not have enough information to be included in this category, and 34.6% was classified under other psychiatric disorders. Of the patients with schizophrenic disorders, 61.2% were male, single, and Venezuelan citizens; 84.9% began their clinical manifestations during the second or third decade of their lives; 89.9% received education. The predominant symptomatology was impairment in social relations (93.5%), deterioration in hygiene and self- care (92.5%), impairment in functioning (87.1%), illogical thinking (86.3%), with predominant persecutory delusions, auditory hallucinations, dialogue hallucinations (84.6%), grandiose delusions (48.2%), and personal experiences of corporeal changes (45.3%). Affective symptomatology were present in all patients and the predominant subtype was the paranoid, that was observed in 80.6% of the cases. Positive signs of this disease in family history were present in 41 percent of the cases. Our findings confirm the necessity to unify criteria concerning the diagnosis of mental disorders, as it became evident that the variability in diagnosis, makes more difficult the psychiatric research in our country.

Adult↗

PubMed1992

[Diagnosis of peripheral neuropathies: various factors of relevance for diagnosis].

The present study was undertaken to evaluate the influence of clinical examination and complementary tests on the diagnosis of peripheral neuropathies. Most of the patients (81.8%) were submitted to laboratory tests, 47.4% were submitted to electromyography, and 22.5% to biopsy. A syndromic diagnosis was made in 99.0% of the patients, topographic diagnosis in 98.6%, and etiological diagnosis in 73.2%. An average of 4.8 tests per patient were requested and 36 of the 93 different tests always gave normal results. The importance of the findings is discussed.

Aged↗

PubMed2003

[Correlation study between conventional medical diagnosis and the diagnosis by reflexology (non conventional)].

BACKGROUND: Reflexology is a non-conventional method for diagnosis and treatment of physical and medical problems by touching or applying pressure on certain areas on the foot surface. The reflexology method is based on the presumption that all body organs and various systems are represented on the foot surface. AIM: The purpose of this study was to test the reliability and validity of the reflexological diagnosis method. METHODS: Eighty patients from various clinics and departments in the Hillel Yaffe Medical Center, Hadera, were examined twice by two different reflexologists. The diagnostics that resulted from these examinations were compared with the conventional medical diagnostics of the same patients. In addition, the level of correlation between the two reflexological examinations was tested. RESULTS: Out of 18 body systems in 6 a statistically significant correlation was found between the conventional medical diagnosis and the two reflexological examinations. In 4 body systems, there was a statistically significant correlation between the conventional medical diagnosis and one out of the two reflexological examinations. The systems in which correlation was found are characterized by having a defined anatomic region. The examination of the significance of the diagnoses regarding the components of the body systems resulted in statistical significance in only 4 out of the 32 components. Between the two reflexological examinations, a statistically significant correlation was found in 14 out of the 18 body systems, and in only 15 out of the 32 system components. CONCLUSION: The reflexology method has the ability to diagnose (reliable and valid) at a systematic level only, and this is applicable only to those body systems that represent organs and regions with an exact anatomic location.

Diagnosis↗

PubMed2003

[Ultrasound in the diagnosis and differential diagnosis of acute appendicitis in childhood].

UNLABELLED: Acute appendicitis represents a leading cause of an abdominal pain in children which requires urgent surgical treatment. AIM OF THE STUDY: To investigate into value of ultrasound (US) in diagnostics and differential-diagnostics of acute appendicitis in children. PATIENTS AND METHODS: A prospective study during a two-year period, was conducted to analyse abdominal US findings in 95 patients, 3-16 years of age who had acute abdominal pain. In all patients we were checking for clinical symptoms of an acute abdomen: pain, nausea, vomiting, fever, frequent urination, diarrhea, duration of symptoms and count of leukocytes. US findings were compared with pathohistological results We have used Toshiba Sonolayer SAL 77 ultrasound machine with a convex 3.75 MHz probe and a linear 8 MHz probe. RESULTS: In 50 patients sonographic diagnoses were confirmed by surgery .36 patients had other pathological conditions that lead to an acute abdomen. Nine findings were false-negative. The study results reveal that the US scanning enables not only reliable diagnosis of acute appendicitis, but also reliable differential-diagnosis of other pathological conditions and diseases. CONCLUSION: US should be the imaging method of choice in diagnostic evaluation of little patients with acute abdominal pain. This method represents a great help in differential diagnosis not only to eliminate acute appendicitis but also to confirm accuracy of the diagnosis.

Abdomen, Acute↗

PubMed2006

[Diagnosis and differential diagnosis value of ultrasound in epididymal mass].

OBJECTIVE: To elevate the diagnosis and differential diagnosis levels of epididymal mass by sonography. METHODS: This was a retrospective study of 179 cases of epididymal mass treated by surgery in our hospital between 1990 and 2005. The analysis was focused on pathological and sonographic features. RESULTS: 179 patients with mean age of 51.4 +/- 14.7 were enrolled. The epididymal mass was classified into four groups: epididymal cyst (n = 98), nonspecific epididymitis (n = 27), tuberculous epididymitis (n = 33) , and epididymal tumor (n = 21). Epididymal cyst could be easily diagnosed by ultrasound, the diagnostic rate was 93.8%, but nonspecific epididymitis and tuberculous epididymitis were hard to differentiate, complicating with multiple organs lesions may distinguish tuberculous from nonspecific epididymitis. Tuberculous epididymitis could be easily diagnosed when cold abscess, calcification and sinus tract emerged. The majority epididymal tumors were benign, and malignant cases were rarely seen. Patient's history, physical examination and sonographic features were all essential to make a right diagnosis. CONCLUSION: Ultrasound features may be helpful to the differential diagnosis of epididymal mass and ultrasound should be the first choice of image detection in epididymal lesions.

Adolescent↗

PubMed2006

[Diagnosis and differential diagnosis of acute zonal occult outer retinopathy].

OBJECTIVE: To study the clinical manifestations of acute zonal occult outer retinopathy (AZOOR) and to differentiate it from other retinal diseases. METHODS: Six patients diagnosed AZOOR had complete eye examinations including fundus photography, fundus fluorescein angiography (FFA), electroretinography (ERG), visual evoked potentials and visual field examination. Medical consultation and neurological consultation were performed in those patients. All patients were followed up and the data were collected for analysis, discussion, diagnosis and differential diagnosis. RESULTS: Six patients (five female and one male) aged 26 - 42 years (mean 35 years) with AZOOR were followed up for 4 - 18 months [mean (7.5 +/- 3.2) months]. All of them were affected bilaterally and their visual acuity were slightly reduced except one eye was CF/40 cm. Half of them had photopsia. At least one eye of each patient had visual field defect or decreased sensitivity in local area or blind-spot enlargement. Biomicroscopic examination revealed vitreous cells in 10/12 eyes and anterior chamber inflammatory cells and keratic precipitate in 4/12 eyes. Minimal (10/12 eyes) or no (2/12 eyes) fundus changes were found in their initial examination. Funduscopic examination revealed yellow-white dots (4/12 eyes) and gray dots (6/12 eyes) at the posterior pole of deep retina or retinal pigment epithelium-Bruch membrane-choroid capillary complex layer. FFA showed depigmentation (2/12 eyes) or hyperfluorescein spots (10/12 eyes) that identical to the retinal lesions. In the follow-up examination, the visual acuity was reduced in one eye and visual field defect enlarged in both eyes of one patient; the number of retinal dots increased in one eye, decreased in one eye and extinguished in one eye. ERG or mERG revealed abnormal in all of their eyes with no changes in their follow-up examination. All of the initial diagnoses of six patients were not consistent with final diagnosis. CONCLUSIONS: AZOOR is a rare eye disease, usually occurs in young females, with the characteristics of photopsia, visual field defects, abnormal ERG and slight changes in the fundus. The differential diagnosis of this disease is relatively complicate and is easily to be misdiagnosed.

Acute Disease↗

PubMed1988

[Morphology, diagnosis and differential diagnosis of mesothelioma].

Forty cases of mesothelioma biopsied and autopsied from 1961 to 1985 were studied and analysed as to their morphology, diagnosis and differential diagnosis. Mesothelioma had complex histologic types. The tumor cells varied in size and shape and were characterized morphologically by the coexistence of biphasic differentiation, adenoid and microvilli formation. The pathologic diagnosis is made according to the feature of biphasic differentiation, or coexistence of epithelioid and spindle tumor cells. It should be emphasized that the tissue sections are taken from multiple areas. Usually, the correct diagnosis is made in correlation to the clinical manifestations. For difficult cases of the diffuse mesothelioma, electron microscopy is needed to differentiate from metastatic adenocarcinoma and spindle cell sarcoma etc.

Adult↗

PubMed1979

[Diagnosis and differential diagnosis of acute hematogenous osteomyelitis in infants (author's transl)].

Clinical and laboratory data are frequently unspecific in acute hematogenous osteomyelitis of infants. As prognosis is dependent on early treatment, a timely radiologic diagnosis is mandatory. Because of specialties in the vascular supply, the roentgenmorphologic alterations of acute hematogenous osteomyelitis in infants differ from the appearance of the disease in other age groups. The acute osteomyelitis in infants frequently leads to destruction of the epiphysis and purulent joint effusion. A subtle analysis of soft tissue lesions will already rise suspicion for acute hematogenous osteomyelitis before destructive or reactive osseous alterations prove the diagnosis by roentgenology. Nuclear medicine examinations of the bone have contributed significantly to radiologic diagnosis of acute hematogenous osteomyelitis in infants despite of few negative results. Osseous trauma and other diseases should be included in differential diagnosis. Especially in neonatals and premature infants, variations in the typical course and appearance of the disease may occur.

Acute Disease↗

PubMed1984

The diagnosis and differential diagnosis of hairy cell leukemia in bone marrow and spleen.

In this study we reviewed the morphologic features of marrow biopsies and aspirates as well as splenic sections derived from 28 patients with hairy cell leukemia. Marrow biopsies proved reliable in establishing and/or confirming the diagnosis in every patient, when available for review. Regardless of the degree of marrow involvement, the hairy cell infiltrates consistently exhibited wide spacing of their nuclei due to relatively abundant pale to clear cytoplasm. Hairy cells appeared homogeneous and bland, without mitotic activity or prominent nucleoli; nuclear contours characteristically were ovoid and to a lesser extent slightly indented or reniform. The splenic histology of hairy cell leukemia was equally distinctive. The splenic red pulp was diffusely infiltrated by a uniform population of cytologically monotonous mononuclear cells that expanded the red pulp cords, filled the sinuses, and generally led to atrophy or obliteration of the white pulp. Moreover, the clear cytoplasm of hairy cells usually was highlighted in sinusoidal blood-filled lakes. Despite the employment of these characteristic morphologic criteria for the diagnosis of hairy cell leukemia in marrow and spleen, these pathologic changes may vary and may be simulated in part by a variety of other hematologic disorders. Accuracy of diagnosis requires not only knowledge of the usual pathologic features of hairy cell leukemia but also knowledge of the unusual. Awareness of these pathologic variations will aid in the improvement of diagnosis and will provide a foundation for understanding the clinical and biologic aspects of hairy cell leukemia.

Adult↗

PubMed1994

Diagnosis and differential diagnosis of ulcerative colitis and Crohn's disease by hydrocolonic sonography.

OBJECTIVES: The entire length of the colon, starting at the rectosigmoid junction and ending at the cecum, can be visualized by transabdominal sonography after retrograde water instillation into the colon. By this method, termed hydrocolonic sonography, it is possible to evaluate in detail the lumen, the colon wall, and the surrounding tissue. Five layers of different echogenicity can be differentiated within the colon wall. METHODS: In a prospective study of 440 patients, we compared the value of conventional abdominal sonography and hydrocolonic sonography with that of colonoscopy, in the diagnosis and differential diagnosis of ulcerative colitis and colonic Crohn's disease. RESULTS: In 93% of patients with Crohn's disease, the normal five-layer structure of the colonic wall was no longer in evidence, and the wall appeared hypoechogenic and clearly thickened. In contrast, in patients with ulcerative colitis, the five-layer structure could clearly be discerned, and although the colon wall remained hypoechogenic, it was only moderately thickened. Colonic Crohn's disease and ulcerative colitis were detectable by hydrocolonic sonography, with a sensitivity of 96% and 91%, respectively, whereas the sensitivity achieved by conventional abdominal sonography was only 71% and 62%, respectively. Furthermore, hydrocolonic sonography made possible the differentiation of Crohn's disease from ulcerative colitis in 93% of the cases. CONCLUSION: This new diagnostic procedure could thus advantageously be introduced for the diagnosis, differential diagnosis, and follow-up of patients with chronic inflammatory large bowel diseases.

Abdomen↗

PubMed1996

[Cranial magnetic resonance tomography--value in diagnosis of dementia. Important additional information for differential diagnosis].

The clinical data and the magnetic resonance imaging (MRI) findings of 41 patients with clinically diagnosed dementia of the Alzheimer type (DAT) and 20 age-matched healthy controls were evaluated with the aim of determining the value of MRI in the diagnosis and differential diagnosis of dementia. Patients and controls with cerebrovascular risk factors, including a history of stroke, were excluded from the analysis. The MRI findings of patients with dementia revealed pathological changes, in particular cerebral atrophy (p < 0.0005), significantly more frequently than did those of controls (p < 0.005). Periventricular demyelinisation and lesions of the white matter were found in 23 (56%) patients, and in 6 (30%) of the controls. MRI revealed one case each of subdural hematoma, hydrocephalus and cerebral amyloid angiopathy. In 14 patients, the detection MRI scans of cerebral infarctions or hematomas suggested a major vascular component of the dementia. In contrast, lesions of the white matter can not reliably by ascribed to a vascular etiology. On the basis of our findings, it is concluded that cranial MRI is of great value for the differential diagnosis of dementia, even when the clinical diagnosis of Alzheimer's dementia is probable and cerebrovascular risk factors are absent.

Aged↗

PubMed1997

Prenatal diagnosis in the Netherlands. Dutch Working Party of Prenatal Diagnosis.

Prenatal invasive diagnosis of genetic conditions in the Netherlands is well organised, based on uniform indications and has a sound financial structure. Facilities for fetal karyotyping and DNA analysis are available in the 8 academic centres. Prenatal diagnosis of metabolic diseases is mainly carried out in Rotterdam. Amniocentesis, transcervical and transabdominal chorionic villus sampling are carried out in all centres, including 4 subcentres. The national Working Party on Prenatal Diagnosis started in 1985 and is a useful platform for all obstetricians and geneticists involved in prenatal diagnosis.

Chromosome Aberrations↗

PubMed1976

[Diagnosis and differential diagnosis of solitary pulmonary coin lesions].

In the present analysis, the diagnosis as well as the differential diagnosis of solitary pulmonary coin lesions are discussed. The coin lesions of 361 patients who were at our diagnostic ward from 1968 to 1970 were defined according to Rube [1967]. The investigations are in accordance with the routine examinations and were consciously demonstrated in nonselected patients in order to express the several diagnostic procedures, their field of indication and their efficiency in a balanced ratio. Therefore, the efficacy of the X-ray diagnosis could be proved in a broader range than in a collective of circular foci which would have been chosen exclusively under the aspect of the diagnosis by means of needle biopsy and which would reveal a higher percentage of morphological clarification of the focus.

Adolescent↗

PubMed1992

Diagnosis of dementia in a heterogeneous population. Development of a neuropsychological paradigm-based diagnosis of dementia and quantified correction for the effects of education.

A brief diagnostic battery of neuropsychological tests was developed for a large-scale epidemiological study of dementia. We operationally defined dementia as defective memory and defective performance in at least two other areas, including orientation, abstract reasoning, construction, and language. Criterion scores for defining defective performance on each test were developed. In a pilot study that used 51 different subjects with a working diagnosis based on physicians' assessment (ie, 32 demented and 29 nondemented subjects), the test-based diagnosis agreed with the working diagnosis in all but two cases. The test battery was then applied to 430 healthy elderly subjects. Eighteen percent of those with 8 or less years of education met criteria for dementia compared with 5% of those with more than 8 years of education. We computed education-corrected scores for each test with the use of residuals from the regression of each test score on education. Based on corrected scores, 12 subjects were reclassified as nondemented and 11 as demented. Subjects who were reclassified as demented were significantly more impaired in activities of daily living than nondemented subjects who were not reclassified. Activities of daily living in subjects who were reclassified as nondemented did not differ from those in demented subjects who were not reclassified. These findings suggest that the neuropsychological battery may have utility in the diagnosis of dementia. However, neuropsychological performance may be influenced by education, and some form of adjustment, such as correction for activities of daily living, may be required in epidemiological studies.

Activities of Daily Living↗

PubMed1996

Correlation of DNA ploidy and histologic diagnosis from prostate core-needle biopsies: is DNA ploidy more sensitive than histology for the diagnosis of carcinoma in small specimens?

DNA ploidy has been shown to have prognostic value in adenocarcinoma of the prostate. While occasional benign lesions of the prostate may be associated with a DNA aneuploid status, most aneuploid epithelial proliferations of the prostate are carcinomas. Because of the relationship between aneuploidy and malignancy, DNA ploidy analysis might improve detection of adenocarcinoma in small core-needle biopsy specimens. In this study, DNA ploidy analysis was performed on 186 fresh core biopsies from 32 patients who had undergone transrectal, ultrasonographically directed core-needle biopsies. Ploidy level was determined by Feulgen staining and image analysis with a CAS 200 image analyzer (Becton Dickinson-Cellular Imaging Systems, San Jose, CA). The resultant DNA ploidy levels were compared with the initial histologic diagnosis and subsequent clinical and pathologic follow-up. Nondiploid DNA patterns correlated with a diagnosis of carcinoma on core biopsy in 11 of 16 nondiploid cases and with a final diagnosis of malignancy in 13 of 16 nondiploid cases. Two patients with biopsy proven carcinoma had DNA diploid tumor patterns. Ploidy analysis had a sensitivity of 86.6% and a specificity of 73.7% in predicting the final diagnosis of malignancy. One case interpreted as DNA tetraploid by image analysis revealed seminal vesicle tissue on both the cytologic preparations and the core biopsy. Two DNA aneuploid specimen associated with cores initially read as benign or atypical demonstrated adenocarcinoma either on review of the original core biopsy or the prostatectomy specimen. The final DNA aneuploid specimen revealed acute prostatitis in the core biopsy. DNA ploidy analysis of core biopsy specimens appears to have relatively good specificity and sensitivity for the detection of prostatic carcinoma. Sampling errors appear to be the major cause of false negative results. Inappropriate measurement of seminal vesicle tissue and acute prostatitis can result in false positive results.

Adenocarcinoma↗