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At least 109 records · Page 6Linked to original sources

PubMed2004

[Molecular-based diagnosis of thyroid carcinoma: germ-cell carcinogenesis and aspiration biopsy nucleic acid diagnosis(ABND)].

Recent data have shown the existence of specific changes in mRNAs in thyroid carcinomas. It has not been clarified, however, why these changes clearly distinguish benign tissues from carcinomas, while genomic alternation such as mutations in the RAS or P53 genes do not. Further, the widely believed hypothesis, multi-step carcinogenesis, does not explain some clinical and experimental evidence of thyroid carcinomas. Considering these facts, we propose a new idea for thyroid carcinogenesis called "germ-cell carcinogenesis", in which cancer cells are derived from the remnant of fetal thyroid germ cells(thyroblasts) instead of normal thyroid follicular cells. Utilizing such mRNAs, we have established a new method for preoperative molecular-based diagnosis of thyroid carcinomas, Aspiration Biopsy Nucleic Acid Diagnosis(ABND). ABND allows us to perform preoperative nucleic acid analyses of the tumors by extracting RNAs or DNAs from tumor cells obtained by fine needle aspiration biopsies(FNABs). Pathological diagnosis of thyroid follicular carcinoma is quite difficult, and the establishment of preoperative molecular-based diagnosis of follicular carcinoma has been long expected. We found that quantification of the trefoil factor 3(TFF3)/galectin-3 mRNA ratio in thyroid tumor cells is a useful tool for distinction between follicular adenomas and carcinomas. Because ABND can be performed without any severe invasion to the patients, in the near future, when more reliable systems of quantitative RNA analysis have been developed, ABND will probably become one of the standard tests for preoperative diagnosis of thyroid carcinoma.

Biopsy, Needle↗

PubMed1996

[The prototype of an expert system for the diagnosis of pseudotumorous lesions and tumors of the jaws: ADAPT-M. Archiviazione e Diagnosi Automatica di Pseudotumori e Tumori delle ossa Mascellari].

Many different tumors and pseudotumors may affect the jaw bones. The number and the rarity of most of these lesions, however, make both classification and differential diagnosis quite difficult. Computer software for statistical calculations and logical-deductive reasoning on vast amounts of data can improve diagnostic skills. These applications are defined as computer-assisted decision-making, medical decision support, or expert systems. This study was aimed at developing a prototype probabilistic expert system, based upon knowledge from an "ad hoc"computerized data base, as an aid in the radiologic diagnosis of jaw tumors and pseudotumors. This program has been called ADAPT-M. The study considered 92 patients with benign space-occupying and fully documented lesions of the jaw bones. For each case, a list of parameters concerning different radiologic exams was considered. From all these pieces of information a data base was built, to calculate both the prevalence of each type of lesion and the frequency of many variables in the single conditions. For each kind of lesion 44 variables were considered. ADAPT-M used a formula based on Bayes' theorem to calculate the "a posteriori" probability of a diagnosis in the presence of a symptom. Overall diagnostic probability rate was high when the highest score hypothesis was matched with pathologic findings (80%) and even higher (96.1%) when the two most probable diagnoses were considered together. As expected, ADAPT-M had higher sensitivity when used with lesions with typical semiology. This results in an unquestionable limitation, especially in the patients in whom a predictive diagnosis would be most desirable. The creation of a larger data base of known cases and software development may help increase the diagnostic accuracy of the ADAPT-M system.

Databases, Factual↗

PubMed2001

Novel approach to the molecular diagnosis of Marfan syndrome: application to sporadic cases and in prenatal diagnosis.

Marfan syndrome is an autosomal dominant disorder affecting the skeletal, ocular, and cardiovascular systems. Defects in the gene that encodes fibrillin-1 (FBN1), the main structural component of the elastin-associated microfibrils, are responsible for the disorder. Molecular diagnosis in families with Marfan syndrome can be undertaken by using intragenic FBN1 gene markers to identify and track the disease allele. However, in sporadic cases, which constitute up to 30% of the total, DNA-based diagnosis cannot be performed using linked markers but rather requires the identification of the specific FBN1 gene mutation. Due to the size and complexity of the FBN1 gene, identification of a causative Marfan syndrome mutation is not a trivial undertaking. Herein, we describe a comprehensive approach to the molecular diagnosis of Marfan syndrome that relies on the direct analysis of the FBN1 gene at the cDNA level and detects both coding sequence mutations and those leading to exon-skipping, which are often missed by analysis at the genomic DNA level. The ability to consistently determine the specific FBN1 gene mutation responsible for a particular case of Marfan syndrome allows both prenatal and pre-implantation diagnosis, even in sporadic instances of the disease.

Adult↗

PubMed1992

Diagnosis and prenatal diagnosis of epidermolysis bullosa herpetiformis (Dowling-Meara) in a mother, two affected children, and an affected fetus.

In utero skin biopsy was performed on a fetus at risk of an uncertain form of epidermolysis bullosa (EB). The mother had produced two affected offspring diagnosed variously as having junctional or dystrophic EB. The two offspring and the fetus were products of different fathers. The mother claimed to have no disease and on clinical examination was without blisters. Examination of the fetal skin biopsy by light and electron microscopy revealed separation of the epidermal sheet from the majority of the biopsy sample, although occasional remnants of basal cells remained associated with the basement membrane. Aggregations of keratin filaments were observed within basal cells of the detached epidermis and in the attached basal cell remnants. The diagnosis was thus suggested to be epidermolysis bullosa Dowling-Meara. Re-review of the clinical and laboratory data from the affected infants revealed a clinical and histological pattern consistent with this diagnosis. Further discussion with the mother revealed that her skin had blistered as a child and that she presently had hyperkeratotic palms and soles. This history is consistent with the autosomal dominantly inherited epidermolysis bullosa herpetiformis (Dowling-Meara). This is the first reported prenatal diagnosis of EB Dowling-Meara. The morphological criteria of intraepidermal blistering and clumped keratin filaments within basal and immediately suprabasal cells characteristic of an affected individual postnatally also identified an affected fetus. There is, however, insufficient experience to be certain that these findings will hold from region to region in the body or among all affected fetuses, and thus prenatal diagnosis on a morphological basis should still be made with caution.

Adult↗

PubMed2004

Retrospective diagnosis and subsequent prenatal diagnosis of Nijmegen breakage syndrome.

OBJECTIVE: We report on the retrospective diagnosis of Nijmegen breakage syndrome (NBS) confirmed by molecular genetic analysis and consecutive prenatal diagnosis in the same family. METHOD: Thirteen years after the death of their daughter due to fatal recurrent infections, a couple presented in our genetic counselling unit asking for the recurrence risk of their daughter's disease. Retrospective analysis of the medical record suggested that the girl might have suffered from NBS. Therefore, molecular genetic analysis for NBS was performed in the parents. RESULTS: After the diagnosis, NBS could be indirectly proven by molecular genetic heterozygosity testing of the parents, and a reliable prenatal diagnosis for a new pregnancy could be offered. In a following pregnancy, a massive hydrocephalus was diagnosed by ultrasound investigation. Amniocentesis was performed, and molecular analysis of the fetal DNA revealed homozygosity for the NBS1 mutation 657del5. CONCLUSION: The analysis of this family allows a further delineation of the prenatal NBS phenotype including hydrocephalus and dystopic kidneys that are helpful parameters to recognise NBS prenatally, also by ultrasound investigations in pregnancy. Additionally, we conclude that hydrocephalus might be more common in NBS patients than previously suggested.

Abnormalities, Multiple↗

PubMed2004

[Correlation between clinical apparatus-based differential diagnosis and neuropathological diagnosis in patients with AIDS].

BACKGROUND: During the course of HIV infection, the majority of patients develop opportunistic cerebral neuro-manifestations. If conventional diagnostic tools are not sufficient, a stereotactic biopsy is often necessary. PATIENTS AND METHODS: In order to evaluate the correctness of the clinical diagnosis of cerebral neuro-manifestations in HIV-infected patients, we compared the results of cerebral biopsy or autopsy with the previous clinical diagnosis. A total of 19 biopsies and 49 autopsies could be analyzed. RESULTS: Except for HIV-associated encephalopathy, we detected a very high conformity between the clinical and the neuropathological diagnoses. We obtained the best sensitivity for progressive multifocal leukoencephalopathy (PML), whereas for cerebral toxoplasmosis the worst sensitivity and specificity was identified. CONCLUSION: We conclude that the diagnosis of PML can be made on clinical grounds alone, whereas the diagnosis of cerebral toxoplasmosis and lymphoma often requires a biopsy, which should be performed early.

AIDS Dementia Complex↗

PubMed2004

[Diagnosis and early diagnosis of ankylosing spondylitis].

Ankylosing spondylitis (AS) is often diagnosed not before 5-10 years after onset of clinical symptoms. The main reason for this delay is the late appearance of unequivocal radiographic sacroiliitis which is a prerequisite for making the diagnosis. It is important to realize that both the early stage without radiographic sacroiliitis and the late stage with radiographic sacroiliitis are part of the same disease and, therefore, should be considered as a disease continuum. The term axial spondyloarthritis (SpA) appears appropriate to describe this disease continuum. Diagnosing axial SpA without radiographic sacroiliitis, however, is difficult and associated with diagnostic uncertainties since there are no diagnostic criteria available. Considering all SpA features which are relevant for the diagnosis of axial SpA (with and without radiographic sacroiliitis), we have recently proposed a diagnostic algorithm based on calculations using Bayes' theorem to be applied in individual patients. This diagnostic algorithm enables the physician to diagnose or to exclude axial SpA with a high degree of confidence. An early and reliable diagnosis is relevant to both the patient and the physician since an early diagnosis allows the best therapy to be introduced and consequently maintained.

Algorithms↗

PubMedDate not supplied

Computerised diagnosis in acute psychiatry: validity of CIDI-Auto against routine clinical diagnosis.

The validity of the self-administered CIDI-Auto for detecting ICD-10 diagnoses was assessed in a study of 126 patients admitted to an acute psychiatry unit. A comparison was made between the level of agreement of the CIDI-Auto with a psychiatrist and that between two psychiatrists. The CIDI-Auto generated an average of 2.3 diagnoses per subject, and the psychiatrists 1.3. Agreement measured by overall agreement and by Kappas between the CIDI-Auto and the psychiatrist's principal diagnosis was poor, whereas agreement between psychiatrists was good. At the level of general diagnostic class (e.g. substance use disorder, schizophrenic disorder, mood disorder), agreement between CIDI-Auto and psychiatrist on principal diagnosis was poor, Kappa = 0.23, while agreement between psychiatrists was good, Kappa = 0.69. The findings indicate that the self-administered CIDI-Auto has poor validity measured against clinical diagnosis for hospitalised patients of acute psychiatric services. Poor validity of computer-based diagnosis limits the diagnostic utility of these methods in clinical situations. It also creates uncertainty of diagnostic findings in survey use.

Acute Disease↗

PubMed2004

[Does magnetization transfer ratio (MTR) contribute to the diagnosis and differential diagnosis of the dementias?].

PURPOSE: The magnetization transfer ratio (MTR) is a MR-based neuroimaging procedure aiming at the quantification of the structural integrity of brain tissue. Its contribution to the differential diagnosis of dementias was examined and discussed in relation to the pathogenesis of age-related dementias. MATERIALS AND METHODS: Sixty-one patients from a memory clinic were diagnosed by general physical and neuropsychiatric examination, and underwent neuropsychologic testing and neuroimaging using MRI. Their clinical diagnoses were based on standard operational research criteria. Additionally, the MTR in 10 defined regions of interest (ROI) was determined. This investigation was performed using a T1-weighted SE sequence. Average MTR values were determined in the individual ROI and their combinations and correlated with the age, gender, cognitive impairment and clinical diagnosis. Sensitivity, specificity, positive and negative predictive value were determined, as well as the rate of correct classifications. RESULTS: For cognitive healthy subjects, the MRT values correlate only mildly, though significantly, with age in the hippocampus and with gender in the dorsal corpus callosum. In contrast, the MTR in the frontal white matter correlates strongly and highly significantly with cognitive impairment in patients with dementia. The differential diagnostic assignment of Alzheimer's disease versus vascular dementia by MTR provides a correct classification of approximately 50 % to 70 %. PPV for no dementia vs. vascular dementia or the NPV for vascular vs. Alzheimer's disease are considerably higher exceeding 80 %. For no dementia vs. Alzheimer's disease, the NPV was over 90 %. CONCLUSION: MTR values indicate functional changes in the brain tissue between cognitive healthy and demented patients, and correlate with the cognitive loss, but not with age and gender. In principle, the MTR is suitable for the diagnosis of age-related dementias, but does not contribute substantially to the differential diagnosis of vascular dementia vs. Alzheimer's disease. The present results support the assumption of a synergy between vascular and degenerative components of age-related dementias.

Age Factors↗

PubMed2006

Full karyotyping, rapid aneuploidy diagnosis or both when invasive prenatal testing is performed for diagnosis of thalassaemia?

A retrospective study was performed to compare the detection rate of chromosomal abnormalities by different approaches of full karyotyping, rapid aneuploidy diagnosis (RAD) or both when invasive prenatal testing is performed for diagnosis of thalassaemia. The karyotype results of 1120 prenatal samples obtained from thalassaemia couples from January 1985 to December 2002 in a referral centre for prenatal diagnosis were studied. The detection rate of chromosomal abnormalities by four different approaches were compared: (i) karyotyping for all samples; (ii) RAD (21,18,13,X,Y) for all samples; (iii) RAD for all samples + karyotyping for cases with ultrasound abnormalities; and (iv) RAD (21,18,13) for all + RAD (X,Y) for cases with ultrasound abnormalities consistent with Turner syndrome + karyotyping for cases with ultrasound abnormalities. Normal karyotypes were found in 1103 samples (98.5%). There were 17 cases (1.5%) of chromosomal abnormalities: four cases (0.36%) were clinically significant, eight cases (0.7%) were of borderline clinical significance and five cases (0.44%) were not confirmed by subsequent prenatal or postnatal tests. The incidences of autosomal (7/1120 = 0.63%) and sex chromosomal (5/1120 = 0.45%) abnormalities were not higher than those (0.41 and 0.22%, respectively) from newborn surveys (Hook and Hamerton, 1977) (P = 0.398 and 0.216, respectively). Approach 1 would detect all 17 chromosomal abnormalities. Approach 2 would detect three of four clinically significant chromosomal abnormalities but not detect six of eight chromosomal abnormalities of borderline clinical significance and three of five chromosomal abnormalities not confirmed by subsequent prenatal or postnatal tests. Approach 3, in addition, would be able to detect all four clinically significant chromosomal abnormalities. Approach 4 would detect all four clinically significant chromosomal abnormalities but would not detect seven of eight chromosomal abnormalities of borderline clinical significance and four of five chromosomal abnormalities not confirmed by subsequent prenatal or postnatal tests. RAD (21,18,13) for all + RAD (X,Y) for cases with ultrasound abnormalities consistent with Turner syndrome + karyotyping for cases with ultrasound abnormalities seemed to be the best approach for the detection of chromosomal abnormalities when invasive prenatal testing is performed for diagnosis of thalassaemia.

Adolescent↗

PubMed1990

Parent-based diagnosis of attention deficit disorder predicts a diagnosis based on teacher report.

The literature evaluating agreement between parent and teacher reports on symptoms of attention deficit disorder (ADD) has repeatedly shown only modest correlations between these two sources of information. A more relevant statistic to this clinical issue, however, is the positive predictive power, the conditional probability that diagnostic criteria will be met by teacher's report if that diagnosis has been made based on parental report. In a population of 43 children (ages 4 to 17) satisfying clinical criteria for DSM-III ADD, parents and teachers independently completed them module on ADD derived from the Diagnostic Interview for Children and Adolescents. Although correlations for individual symptoms were low to moderate, there was a 90% probability that the teacher report would result in a positive diagnosis given a positive parent diagnosis, indicating a very high probability that, in clinically referred children, a clinical diagnosis of ADD based on parent report will be corroborated by a teacher report.

Adolescent↗

PubMedDate not supplied

Predicting violence: nursing diagnosis versus psychiatric diagnosis.

Predicting violent behavior is a major concern for nurses as well as other mental health professionals. Two diagnostic assessment systems (Nursing Diagnosis-NANDA and Psychiatric Diagnosis-DSM III-R) were compared in their ability to predict assaultive behavior. The nursing diagnosis potential for violence suggested a difference (p = .07) between the assaultive and control subjects. No differences were found between assaultive and control subjects on psychiatric diagnoses. Nursing diagnosis is based upon measurable behaviors and is time specific. Clinical implications and further research endeavors in this area are suggested.

Case-Control Studies↗

PubMed2003

Discriminatory value of the low-dose dexamethasone suppression test in establishing the diagnosis and differential diagnosis of Cushing's syndrome.

Cushing's syndrome requires a screening test of high sensitivity, followed by biochemical evaluation of the source of the tumor when the cause is ACTH dependent. The high-dose dexamethasone suppression test is still in common use as an aid in differential diagnosis, although its value has been queried. We have routinely used the low-dose dexamethasone suppression test for many years in the diagnosis of Cushing's syndrome but noticed that patients with pituitary-dependent Cushing's syndrome or Cushing's disease, usually showed some degree of suppression of their serum cortisol, compared to those with the ectopic ACTH syndrome. We therefore analyzed retrospectively the serum cortisol responses during the low-dose dexamethasone suppression test and the high-dose dexamethasone suppression test in 245 patients with ACTH-dependent Cushing's syndrome and compared the diagnostic utility of each test either alone or in combination with a standard test using CRH. Evaluation of the serum cortisol response at 24 and 48 h during the low-dose dexamethasone suppression test correctly identified 98% of patients with ACTH-dependent Cushing's syndrome and distinguished between pituitary and ectopic causes with a sensitivity of 82% and a specificity of 79%. In the same patients, the serum cortisol response to the high-dose dexamethasone suppression test had a slightly higher sensitivity (91%) and specificity (80%). However, the combined criteria of a more than 30% suppression of serum cortisol during the low-dose dexamethasone suppression test and/or a more than 20% increase in the CRH test had a significantly higher sensitivity (97%) and specificity (94%) than either the high-dose dexamethasone or the CRH tests alone in the differential diagnosis of ACTH-dependent Cushing's syndrome. It produced equivalent information to that when high-dose and CRH test results were combined. We therefore conclude that in our patient series, the serum cortisol response during the low-dose dexamethasone suppression test is highly sensitive in diagnosing Cushing's syndrome and, combined with the results of the serum cortisol response to the CRH test, offered a safe and cost-effective test in the differential diagnosis of ACTH-dependent Cushing's syndrome. There does not appear to be any necessity for retaining the high-dose dexamethasone suppression test in this diagnostic work-up.

Adrenocorticotropic Hormone↗

PubMed1998

Prenatal diagnosis of Down syndrome: mothers' reflections on supports needed from diagnosis to birth.

A qualitative study involving 10 mothers who received a prenatal diagnosis of Down syndrome and chose to continue their pregnancy was presented. The time frame considered was diagnosis to delivery. We looked at how the diagnosis was presented, the decision to continue the pregnancy, and the mothers' experience with professionals from diagnosis to delivery. Mothers' suggestions to others facing the same challenges and to their health care providers were discussed as were the types of support given these mothers and what was or would have been most helpful to them. The importance of professionals reviewing their procedures and protocols for working with families facing similar circumstances was stressed.

Adult↗

PubMed2004

[Clinical diagnosis and anatomic-pathologic diagnosis: disagreements].

UNLABELLED: Many pathologic entities in the clinical practice generate disagreements regarding its identification, not only by its likeness with other lesions but also by its semantics. BACKGROUND: The goal of this work is to clarify which disagreements are more frequent in the clinical practice, supply new knowledges to facilitate the identification of the larger pathologies controversies and to enlarge its differentials diagnosis. METHODS: We revised 1825 reports of referring biopsies to the period of 1992 up to 1999, belonging to the Laboratory of Pathological Anatomy of Unoeste, being excluded 439 lauds that did not introduce diagnostic hypothesis, or that had as signals hypothesis and clinical indications or "for clearing". We confronted the clinical hypothesis with the diagnosis Anatomic-pathological, obtaining itself 444 (32.05%) of discordant cases. RESULTS: Note that the biggest disagreements were between Hansen's disease clinical diagnosis, which in 65.7% cases were chronicles Unspecific Dermatitises, between Sebaceous Cyst, which in 80% cases were cyst of Epidermical Inclusion and Incomplete Abortion, which in 68.2% cases were complete Abortion. CONCLUSION: We conclude that an adequate concepts definition discerning an anamnese and narrow correlation of the clinical characteristics of the lesions promote a minor disagreements number among clinical diagnosis and Anatomic-pathological.

Biopsy↗

PubMedDate not supplied

[Value of cytologic diagnosis in rapid intraoperative diagnosis of mediastinal lymphadenopathy and tumors of the lung and mediastinum].

Extemporary (EXT) analysis is unavoidable in establishing the tumor diagnosis, operability and the extent of the operation. Alternative approach is cytologic analisis which, because of its simple methodology, provides results even faster. In this paper, the results of cytologic imprints (CI) and EXT finding were compared with definite histopathologic diagnosis (HDP) to determine the value of both methods. A total of 109 samples obtained during 55 thoracotomies were analyzed. Eighty eight specimens were analyzed simultaneously by CI Method and in frozen sections. Twenty-one sample was analyzed only by cytologic methods and the results of standard CI were compared with definite HDP. After being processed for EXT diagnosis, intraoperative specimens were imprinted on glass slides, air-dried and stained by May-Grünwald--Giemsa Method. In cytologic analysis there were no false negative results, but there were 7 false positives. The overall diagnostic accuracy was 93.6%, sensitivity and negative predictive value was 100%, specificity was 91.1% and positive predictive value was 81.8%. Diagnostic accuracy of frozen sections was 98.8% also without false negatives and with one false positive finding with sensitivity and negative predictive value of 100%, specificity of 98.4% and positive predictive value of 95%. These results corresponded to the results of other studies and confirmed the efficacy of CI method, which could be used either simultaneously with EXT diagnosis as a complementary or as an alternative method in the hospitals where EXT analysis is not used. However, imprint cytology demands an experienced cytologist and could be used only in hospitals with well organized cytologic service.

Cytodiagnosis↗

PubMed1999

Confirmation of diagnosis in preimplantation genetic diagnosis (PGD) through blastocyst culture: preliminary experience.

Three cases of preimplantation genetic diagnosis (PGD) (two for sexing and one for aneuploidy screening) are presented. Embryo biopsy was performed at day 3 and diagnosis was established with fluorescent in situ hybridization (FISH). Embryos not used for replacement were cultured in sequential media for blastocyst development. Blastocyst rate was 39.3 per cent. Confirmations of diagnosis were established with FISH in blastocysts and arrested embryos. Mosaicism was observed in 7/8 blastocysts (mean number of cells analysed: 55.5) and 5/8 arrested embryos. The percentage of abnormal cells was 17.1 per cent for blastocysts and 54 per cent for arrested embryos. Polypoid cells were observed in 4/8 blastocysts. Confirmation of diagnosis at the blastocyst stage is a useful tool in PGD.

Aneuploidy↗

PubMed1975

[Radiological diagnosis of acute kidney abscess in adults. Early diagnosis apropos of 7 cases].

The authors report, in 7 cases, their experience of the early diagnosis of renal abscess. They emphasize the importance of recognising this disease by comparison of the findings of intra-venous urography and the clinical signs. They were thus able to avoid arteriography and surgical operation in 6 cases. The diagnosis depends on the finding of a mass in the right kidney (5 cases out of 7) on intravenous urography, usually in the upper pole (4 cases out of 7). This space-occupying lesion may be accompanied by a certain number of signs which are inconstant and not specific, e.g. disappearance of the normal calyx pattern which disappears under compression and is probably related to inflammation. In fact, this association of a tumour and fever, due to deep pus formation and urinary infection, suggests the diagnosis and leads to the prescription of antibiotics. The disapperance of the clinical and radiological négative signs within 10 days confirms the diagnosis. The persistence of the space-occupying lesion requires arteriography which will make the difference between chronic abscess and carcinoma.

Abscess↗