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Results for “clinical variant classification”

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PubMed2000

A rapid and efficient method for the detection of point mutations of the human prion protein gene (PRNP) by direct sequencing.

Creutzfeldt-Jakob disease (CJD) and related disorders occur in sporadic, acquired and inherited forms. In sporadic, iatrogenic and new variant CJD the polymorphic codon 129 of the prion protein gene (PRNP) plays an important role for the susceptibility to the disease and for the clinical and neuropathological manifestations. All the inherited forms of CJD and related disorders are linked to point or insert mutations of PRNP. The analysis of PRNP is therefore important for a correct classification of these disorders and for the identification of novel mutations. The aim of the present study is to describe a fast and easy to perform method for the direct sequencing of the PCR amplified PRNP open reading frame, by using M13 tailed primers which allow a direct and rapid method of sequencing. The goodness of this method is demonstrated in the analysis of three sporadic CJD patients with different genotypes at codon 129 and three inherited cases bearing different point mutations of PRNP: the Pro102Leu mutation linked to Gerstmann-Sträussler-Scheinker-syndrome, the Val210Ile mutation and a novel mutation at codon 211 (Gln211Glu) both associated to familial CJD.

Creutzfeldt-Jakob Syndrome↗
PubMed1992

HLA-DR/DQ gene variation in nongoitrous autoimmune thyroiditis at the serological and molecular level.

The etiology of autoimmune diseases is multifactorial with genetic factors being an important prerequisite. There are two clinical manifestations of autoimmune thyroiditis: the goitrous form (Hashimoto's thyroiditis) and the atrophic variant, which is characterized by hypothyroidism (primary myxoedema). Different genetic markers were assumed to be predisposing factors for the distinct clinical presentation. In the present study, we determined HLA A,B,C,DR,DQ alloantigens serologically and HLA-DQ by gene analysis in patients with nongoitrous autoimmune thyroiditis and randomly chosen controls. To verify the exact classifications, thyroid volume (median 5.85 ml) was measured by ultrasonography. HLA-DR5 was found in 16 of 36 (44%) patients with nongoitrous autoimmune thyroiditis and in only 26 of 175 controls (15%) (Pc = 0.0018). There was a tendency towards a lower frequency of HLA-DR7 with 6% positivity in patients vs. 29% in controls (Pc = 0.052). Regarding HLA-DQ, DQ7 was found in 17 of 35 patients (48%) vs. 21 of 98 controls (21%) (Pc = 0.028) (relative risk 3.5). No other association was found with HLA-A,B,C and HLA-DR and -DQ. Our data indicate that the genetic susceptibility to autoimmune nongoitrous thyroiditis is closely associated to HLA-DR5 and DQ7 and not distinct from goitrous disease. We conclude that factors other than genetic ones explain the different immunological and clinical manifestation of chronic lymphocytic thyroiditis.

Autoimmune Diseases↗
PubMed1984

[Morpho-clinical variants of chronic glomerulonephritis and their significance for the evaluation of the severity of the disease].

The study of the morphological, clinical and functional manifestations of compensated chronic glomerulonephritis (CGN) in 317 patients revealed the advantage of the morphoclinical variants as compared to the morphological types for the evaluation of the gravity and prognosis of the disease. The morphoclinical variant means the combination of the morphological and clinical types. It was found that the morphoclinical variants of CGN determine the probability of the tubulointerstitial component, which deteriorates the prognosis of the disease more precisely than its morphological types. Renal dysfunction is more closely connected with the morphoclinal variant of CGN than with the morphological type. The data obtained are in favour of developing a morphoclinical classification of CGN on the basis of the morphoclinical variants of the disease.

Adolescent↗
PubMed2005

A variant of Cenani-Lenz syndactyly (CLS): review of the literature and attempt of classification.

An oligodactylous variant of Cenani-Lenz syndactyly and its surgical treatment is presented. The deformity is believed to be of autosomal recessive inheritance and caused by a disordered axial and longitudinal differentiation of the upper and lower extremities. The classical form is mainly characterised by a complete syndactyly of the hands. Malformations may also affect the bones of the forearm and, to a lesser extent, the lower limbs. We analysed clinical features and compared them with those previously described. According to our research of literature and our clinical findings there seem to exist two grossly different clinical phenotypes: spoon hand type and oligodactyly type. Typical constant clinical features such as carpal, metacarpal and digital synostoses, disorganisation of carpal bones, reduction of digital rays and syndactyly of toes are found in the reported cases. Inconstant features such as radio-ulnar synostosis, brachymesomelia, metatarsal synostoses and reduction of metatarsal rays may be present. In our case, successful bilateral digital ray individualisation and tendon transfers were performed to construct a grip function of the grossly deformed hands.

Fingers↗
PubMed1993

Periodic paralysis, myotonia congenita and sarcolemmal ion channels: a success of the candidate gene approach.

The classification of periodic paralyses and myotonic syndromes has been a subject of debates for the last 40 yr. Recent advances in molecular biology have led geneticists to reconsider this old question, using a candidate gene approach. Two groups of disorders have now emerged: (1) muscle sodium channel-associated diseases which include hyperkalemic periodic paralysis and its clinical variants, as well as paramyotonia congenita; (2) muscle chloride channel-associated disorders which comprise both the dominant and recessive form of myotonia congenita. This review is focussed on these recent discoveries.

Genotype↗
PubMed1999

Benign epithelial odontogenic tumors.

Teeth are formed from a complex interaction of primitive ectoderm and ectomesenchymal tissues. Because humans develop 2 sets of teeth (deciduous and permanent), odontogenesis is a prolonged biologic process. Residues of odontogenic tissues are present in most humans- both during and after odontogenesis. These elements may be found in either bone or soft tissue of the jaws and may contribute to the formation of odontogenic tumors in these sites. Further, the mixture of epithelium and mesenchyme necessary for tooth formation allows for the development of tumors composed of either element or for mixed neoplasms. This article discusses 4 of the 5 benign odontogenic neoplasms that are of epithelial origin and offers an agreed on classification scheme, which includes important clinicopathological subtypes. Specifically discussed are ameloblastoma, calcifying epithelial odontogenic tumor (Pindborg tumor), adenomatoid odontogenic tumor, and squamous odontogenic tumor. A brief history of each tumor is given along with a discussion of demographic data, clinical findings, radiographic features, and gross features where useful. A thorough discussion is presented of diagnostic histopathology including histologic variants. Generally accepted modes of therapy and follow-up recommendations are discussed.

Ameloblastoma↗
PubMed1987

Problems and pitfalls in the histopathologic diagnosis of gestational trophoblastic lesions.

Proliferative lesions of gestational trophoblast pose problems of interpretation and pitfalls in differential diagnosis. Normally an actively proliferative and invasive tissue, healthy trophoblast shares cytologic features with malignant neoplasms. When trophoblastic hyperplasia accompanies macroscopic villous swelling, a diagnosis of hydatidiform mole (HM) is in order. Exuberant and atypical avillous trophoblast characterizes choriocarcinoma (CCA) and placental site trophoblastic tumor (PSTT). The distinction between them rests on the dimorphic composition of CCA as contrasted with the relative monomorphism of PSTT. Immunohistochemical studies contribute to the latter differential diagnosis. Unfortunately, two common conditions share morphologic features with the major lesions of gestational trophoblast. The hydropic abortus may resemble HM; the banal implantation site in normal early pregnancy and later spontaneous abortion may suggest either CCA or PSTT. Familiarity with the normal and benign variants of chorionic epithelium and thorough tissue sampling may be helpful in difficult cases. Ambiguous lesions that do not conform to conventional classification should be referred for consultation. A few, however, will not fit neatly into diagnostic categories. In such instances, a descriptive report and clear communication with the patient's physician provide the best current approach to clinical follow-up.

Choriocarcinoma↗
PubMed2001

The classification of patients with chronic pain: age and sex differences.

OBJECTIVE: To further develop an empirically based classification system for chronic pain patients through the examination of age and sex differences, and incorporation of pain duration in the grouping algorithm. SUBJECTS: Three hundred seventy-four chronic pain patients (300 aged 13 to 59 years; 74 aged 60 to 89 years) assessed at an outpatient, multidisciplinary pain management centre. METHODS: Patients completed measures of demographic and descriptive information, pain intensity (box rating scale), perceived disability (modified Pain Disability Index) and affective distress (Symptom Checklist-90 Revised) before multidisciplinary treatment. Standardized scores from the assessment measures were entered into a series of hierarchical, multivariate cluster analyses to identify underlying patient subgroups. RESULTS: Age-based patient groupings from prior research were partially replicated. Significant differences in clinical presentations were observed across age and sex groups. Pain duration was found to make an important contribution to the patient groupings. 'Good control' (low pain, disability, distress) and variants of 'chronic pain syndrome' (elevated pain, disability, distress) groupings were identified across all analyses. Two variants of a 'stoic' profile were identified among older patients, with low levels of distress relative to pain and perceived disability. One of these profiles was associated with long pain duration and was found only among males. Several unique clinical profiles were identified for female patients. CONCLUSIONS: There are important age and sex differences in the clinical presentations of chronic pain patients. Some older patients present with unique clinical profiles that may reflect cohort differences, and/or physiological or psychological adjustment processes. There appears to be a greater number of distinct chronic pain presentations among females. Research on the classification of chronic pain patients within homogeneous diagnostic subgroups is needed.

Adolescent↗
PubMed1992

Truncus arteriosus communis associated with interrupted aortic arch: a report on two uncommon cases.

The paper presents two infants with the A-4 type of truncus arteriosus communis (according to Van Praagh's classification). One patient who survived a surgical procedure demonstrated a rare variant of aortic arch interruption to the left off the left subclavian artery (type A according to Celoria and Patton), whereas the second presented an uncommon anomaly in which the right subclavian artery originated from the descending aorta with associated severe truncal valve incompetency. The authors describe the clinical picture along with the surgical treatment of the first infant who being six days old was subjected to a correction employing the wide patent ductus arteriosus to reconstruct the aortic arch, following the method described by Gomes and McGoon. Subsequently an aortic homograft was implanted in order to connect the right ventricle and the pulmonary artery.

Aortic Arch Syndromes↗
PubMed2003

Emended phenotypic characterization of Prototheca zopfii: a proposal for three biotypes and standards for their identification.

A representative selection of Prototheca zopfii strains isolated from different environmental habitats or clinical cases was characterized in a polyphasic approach in order to assess their intraspecies taxonomic position. Recently, the recognition of distinct phenotypic clusters has been reported as the assignment of 'variants'. In the present study, 11 strains were compared by a number of phenotypic and genetic criteria, including growth characteristics, biochemical reactions and serotyping results. Based on emended standards for biotype identification, P. zopfii strains showed auxanographic differences and distinct assimilation patterns with respect to utilization of amino acids and glycerol. Serotyping by means of immunoblotting revealed that all isolates of variant II obtained from clinical cases, i.e. isolates from bovine mastitis or from human enteropathia, showed specific antigen patterns. They were found to be different from strains assigned to the other two variants with respect to their immunogenic antigens. Furthermore, comparison of partial 18S rDNA sequences confirmed distinct differences between the former variants. Based on these results, it is proposed that P. zopfii merits classification as a species comprising three biotypes.

Animals↗
PubMed1985

The value of morphological prognostic criteria in the assessment of renal cell carcinoma.

In this study, we examined some of the morphological values from the large number of prognostic parameters indicated in the literature by establishing survival statistics. Primary distant metastasis formation was confirmed to be a prognostically unfavorable factor. Regional metastasis formation takes an intermediate position between the primarily distantly metastasized and the primary non-metastasized renal cell carcinoma. In the primarily non-metastasized renal cell carcinoma, tumor invasion into the renal vein is associated with prognostic deterioration, obviously due to a linkage to other unfavorable tumor characteristics. The histological degree of malignancy as a single prognostic parameter seems to be of little informational value if no other tumor data are taken into consideration. The classification of renal tumors according to Robson proves to be of great clinical relevance, especially when it is combined with the histological degree of malignancy. The prognostic scheme by Hermanek 'combined staging and grading' must be recommended as the prognostic scheme of choice. Apart from special histological types of the renal cell carcinoma, such as the papillary or sarcomatous variant, and with reservation as to the tendency to unpredictable secondary metastasis formation that is peculiar to the renal cell carcinoma, a prediction of the prognosis according to the morphological criteria mentioned above is possible to a satisfactory degree within certain limits.

Adult↗
PubMed1977

[A contribution on the manifestations of wegener's granulomatosis (author's transl)].

To facilitate the clinical understanding of Wegener's granulomatosis, the morphological changes involved are discussed. Such changes may be found in the entire respiratory tract or may be limited to either the upper or the lower respiratory tract with varying severity. When confronted with the nasopharyngeal course of the disease, the ENT specialist should realize that nasal and pulmonary variants can coexist. Classifications such as Granuloma gangraenescens, lethal midline granuloma or midline granuloma stress localized processes and fail to associate possible pulmonary involvement or manifestation in other organs. Such descriptions are therefore unsuitable for an understanding of the disease.

Adult↗
PubMed1975

Identification of Chromobacterium violaceum: pigmented and non-pigmented strains.

The classification and, therefore, identification of Chromobacterium violaceum has been based upon its ability to produce a violet pigment. Although the organism may yield non-pigmented variants when subcultured on artificial media, the isolation of non-pigmented strains from pathological tissues or from nature had not been reported. With a method established for the identification of C. violaceum regardless of violet pigmentation, non-pigmented strains were isolated from nature. The presence of non-pigmented strains of C. violaceum in nature is of significance to taxonomy and clinical bacteriology. Pigmentation cannot be held as an essential characteristic of the definition of the genus Chromobacterium and gives credence to the suspicion of Sneath (1960, 1966) that the genus is not a natural one. Non-pigmented strains may have been isolated from clinical material but wrongly identified as belonging to other genera of non-pigmented Gram-negative bacilli and regarded as not being pathogenic.

Animal Diseases↗
PubMed2004

Molecular characterization of Epstein-Barr virus and oncoprotein expression in nasopharyngeal carcinoma in Korea.

BACKGROUND: We evaluated the characteristics of nasopharyngeal carcinoma in Korea, including its clinical, pathologic, and molecular features, especially emphasizing on the EBV strains involved, latent membrane protein 1 (LMP1) expression, and the alterations of matrix metalloproteinase 9 (MMP9) and E-cadherin expression. METHODS.: The presence of EBV was evaluated by EBER in situ hybridization, and the expression of LMP1, MMP9, and E-cadherin by immunohistochemistry. The characterization of EBV type and LMP1 variant was performed by PCR. RESULTS: EBER was detected in 55 of 57 cases (96%) of nonkeratinizing carcinoma (NKC) and undifferentiated carcinoma, but in only four of nine cases (44%) of squamous cell carcinoma (SCC). EBER positivity was much higher in the group with nodal metastases (p =.003). The predominant strain of EBV infection was type A (81%) and a 30-bp deletion LMP1 variant (77%). All EBER-positive SCCs were infected with EBV type A. LMP1 expression was detected in 36 of 59 (61%) patients with latent EBV infection and MMP9 in 41 of these 59 (69%). LMP1 positivity was much higher among the patients aged 50 years and younger. MMP9 expression was associated with LMP1 expression (p =.008), and nodal and distant metastasis (p =.019, p =.045). Loss of E-cadherin expression was correlated with MMP9 and nodal metastasis. The survival rate was much lower in patients with a higher TNM classification, stage, and a histology of SCC. EBER positivity was associated with a better prognosis in the Kaplan-Meier test, but had no prognostic value by Cox regression analysis. Loss of E-cadherin expression and nodal metastasis were also correlated with local recurrence and distant metastasis. CONCLUSION: EBV type and LMP1 variant had no significant influence on the clinicopathologic properties of tumor. However, there was a tendency toward a better survival in the EBV type B group. Histology and clinical staging were the two most important prognostic factors.

Adolescent↗
PubMed1993

[Pathologic conclusion about the cause of death].

The author compares the rules of the pathology diagnosis formulation with the requirements of the International classification of diseases and suggests ending the pathology epicrisis with a separate paragraph "Pathology conclusion about the cause of death". 8 variants of such conclusion are suggested taking into consideration different construction of diagnosis (monocausal, bicausal, multicausal).

Cause of Death↗
PubMed2000

2000 World Health Organization classification of tumors of the nervous system.

This is a review of the 2000 World Health Organization (WHO) classification of tumors of the nervous system. It contains an overview of the most important changes and short descriptions of the new entities or variants of already existing entities included in the current classification. These are: chordoid glioma of the third ventricle, cerebellar liponeurocytoma, large cell medulloblastoma, medulloblastoma with extensive nodularity and advanced neuronal differentiation, atypical teratoid/rhabdoid tumor, perineuroma, and rhabdoid meningioma. In contrast to the former WHO tumor classification series, the present one is based on the complex criteria, which include not only the clinical course and histologic appearance of the neoplasm but its immunophenotypic features and molecular/cytogenetic profile as well. Thus, it is strongly disease-oriented and uses extensively the recent advances in the basic sciences.

Humans↗
PubMed2006

Cutaneous squamous cell carcinoma: a comprehensive clinicopathologic classification--part two.

Cutaneous squamous cell carcinoma (SCC) includes many subtypes with widely varying clinical behaviors, ranging from indolent to aggressive tumors with significant metastatic potential. However, the tendency for pathologists and clinicians alike is to refer to all squamoid neoplasms as generic SCC. No definitive, comprehensive clinicopathological system dividing cutaneous SCCs into categories based upon their aggressiveness has yet been promulgated. Therefore, we have proposed the following based upon the malignant potential of SCC variants, separating them into categories of low (< or = 2% metastatic rate), intermediate (3-10%), high (greater than 10%), and indeterminate behavior. Low-risk SCCs include SCC arising in actinic keratosis, HPV-associated SCC, tricholemmal carcinoma, and spindle cell SCC (unassociated with radiation). Intermediate-risk SCCs include adenoid (acantholytic) SCC, intraepidermal epithelioma with invasion, and lymphoepithelioma-like carcinoma of the skin. High-risk subtypes include de novo SCC, SCC arising in association with predisposing factors (radiation, burn scars, and immunosuppression), invasive Bowen's disease, adenosquamous carcinoma, and malignant proliferating pilar tumors. The indeterminate category includes signet ring cell SCC, follicular SCC, papillary SCC, SCC arising in adnexal cysts, squamoid eccrine ductal carcinoma, and clear-cell SCC. Subclassification of SCC into these risk-based categories, along with enumeration of other factors including tumor size, differentiation, depth of invasion, and perineural invasion will provide prognostically relevant information and facilitate the most optimal treatment for patients.

Carcinoma, Squamous Cell↗
PubMed2006

Cutaneous squamous cell carcinoma: a comprehensive clinicopathologic classification. Part one.

Cutaneous squamous cell carcinoma (SCC) includes many subtypes with widely varying clinical behaviors, ranging from indolent to aggressive tumors with significant metastatic potential. However, the tendency for pathologists and clinicians alike is to refer to all squamoid neoplasms as generic SCC. No definitive, comprehensive clinicopathological system dividing cutaneous SCCs into categories based upon their aggressiveness has yet been promulgated. Therefore, we have proposed the following based upon the malignant potential of SCC variants, separating them into categories of low (< or = 2% metastatic rate), intermediate (3-10%), high (greater than 10%), and indeterminate behavior. Low-risk SCCs include SCC arising in actinic keratosis, HPV-associated SCC, tricholemmal carcinoma, and spindle cell SCC (unassociated with radiation). Intermediate-risk SCCs include adenoid (acantholytic) SCC, intraepidermal epithelioma with invasion, and lymphoepithelioma-like carcinoma of the skin. High-risk subtypes include de novo SCC, SCC arising in association with predisposing factors (radiation, burn scars, and immunosuppression), invasive Bowen's disease, adenosquamous carcinoma, and malignant proliferating pilar tumors. The indeterminate category includes signet ring cell SCC, follicular SCC, papillary SCC, SCC arising in adnexal cysts, squamoid eccrine ductal carcinoma, and clear-cell SCC. Subclassification of SCC into these risk-based categories, along with enumeration of other factors including tumor size, differentiation, depth of invasion, and perineural invasion will provide prognostically relevant information and facilitate the most optimal treatment for patients.

Carcinoma, Squamous Cell↗