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PubMed2000

A novel HLA-A24 (A*2420) allele identified in the Atayal tribe of Taiwan.

The Taiwan indigenous population groups are classified into different tribes according their linguistic classification and cultural anthropology. One of the tribes, the Atayal, showed a high frequency of A24 alleles by SSOP analysis. High-resolution sequencing based typing identified a A*2402 variant "A*2420" which was found in 6 unrelated individuals. High-resolution typing is required to identify HLA polymorphism in the Taiwanese minority groups.

Alleles↗

PubMed2002

Characterization of neutralization sites on the circulating variant of swine vesicular disease virus (SVDV): a new site is shared by SVDV and the related coxsackie B5 virus.

Using a panel of new monoclonal antibodies (mAbs), five neutralizing, conformation-dependent sites have been identified on the antigenic variant of swine vesicular disease virus (SVDV) circulating currently. In studies on the antigenic conservation of these sites, the four antigenic/genetic groups of SVDV described showed distinguishable patterns, confirming this classification. By sequencing mAb-resistant mutants, the five sites have been mapped precisely and localized on a three-dimensional model of the SVDV capsid. All were found to be orientated, to a different extent, towards the external surface of the capsid. Three of the five sites, located in VP1, VP2 and VP3, correspond to epitopes identified previously in historic isolates as sites 1, 2a and 3b, respectively. Another site, site IV, which maps to position 258 of VP1, corresponds to an epitope reported recently and is described in this study to be specific for isolates of the most recent antigenic group of SVDV. A fifth site is described for the first time and corresponds to the unique neutralizing site that is common to both SVDV and coxsackie B5 virus; it maps to positions 95 and 98 of VP1, but may also include positions nearby that belong to site 1 on the BC-loop of VP1, suggesting the classification of site Ia. These results may have useful diagnostic and epidemiological applications, since mAbs to the new conserved site Ia provide universal reagents for SVDV detection systems, while the specificity of mAbs to site IV make them unique markers for the most recent strains of SVDV.

Animals↗

PubMed2026

Immunogenic implications of translational readthrough modulate the association of F8 nonsense mutations with inhibitors in Hemophilia A.

BACKGROUND: Among F8 mutation types, main determinants of inhibitor development after replacement therapy in Hemophilia A (HA), nonsense mutations display wide variation in the associated risk. Translational readthrough (Rdthr) at premature termination codons (PTCs) produces traces of full-length factor VIII (FVIII) including missense and wild-type molecules (WT Rdthr), and may influence the immune response involved in inhibitor formation. METHODS: For inhibitor association analysis, we investigated F8 genotypes, inhibitor status and Rdthr features in 335 PTCs (1048 patients), recorded in the European Association for Haemophilia and Allied Disorders (EAHAD) database, and exploited expression of F8 PTCs variants. Mean-differences in affinity of HLA-DR alleles for FVIII WT peptides and their missense counterparts were bioinformatically calculated. RESULTS: WT Rdthr was higher for patients affected by PTCs not associated with inhibitor and was not predicted at all in patients with PTCs detected in at least three inhibitor positive cases (n = 136, p = 0.0001). WT Rdthr was lower for PTCs in the inhibitor prone FVIII light chain. Among FVIII PTCs fused with luciferase, quantitative output of WT Rdthr negative and positive groups did not differ, potentially highlighting for the positive group the importance of WT Rdthr to decrease inhibitor association. Readthrough output was the lowest among WT Rdthr negative PTCs, highly associated with inhibitors. The WT Rdthr prediction was extended to all PTCs that could arise by single nucleotide variations for the entire F8 coding sequence. Estimated WT Rdthr was higher in PTCs reported in EAHAD than those predicted (n = 662), foreseeing a higher risk of developing inhibitors. In silico mean differences in affinity of HLA-DR alleles for WT FVIII peptides and their missense counterparts, potentially arising from Rdthr of PTCs without WT formation (n = 297), were higher for missense variants predicted in patients with inhibitors than without (p < 0.0001), and increased for PTCs present in more than one patient with inhibitor, potentially supporting immunogenic features. CONCLUSIONS: The new genetic classification of HA PTCs may improve our knowledge about their relationship with inhibitors. It deserves to be explored for estimating inhibitor PTC association in HLA genotyped patients as well as in other human diseases.

Humans↗

PubMed1994

Oral-facial-digital syndrome II. Transitional type between Mohr and Majewski syndrome: report of a new case with congenital stenosis of the trachea.

We present a female patient with laryngeal anomalies, tracheostenosis and pre- and postaxial polydactyly. Bilateral duplication of the hallux, polydactyly of hands, growth retardation and conductive hearing defect are consistent with oral-facial-digital (OFD) type II syndrome. Three similar cases of OFD syndrome with hypoplasia of the larynx, epiglottis and/or trachea without tibial dysplasia have been previously reported by Silengo and Temtamy and McKusick. The present patient adds one more case to this group of variants of OFD syndrome. We believe that those cases may be considered to form a separate subentity of OFD syndromes although overlapping features within the different subtypes make a precise classification very difficult.

Diagnosis, Differential↗

PubMed1991

[Classification of aortic and pulmonary artery origin from right ventricle].

An original systematics of origin of the aorta and pulmonary artery from the right ventricle (OAPA RV) is suggested on the basis of examination of 63 heart specimens with the anomaly. Two main variants of OAPA RV are distinguished: (1) with and (2) without a formed infundibular septum (IS). Types A and DA belong to the first variant, types B, C, D, and DC to the second variant. Type A is characterized by drainage of the left ventricular (LV) outflow tract (OT) into the subaortic conus. Type DA differs from type A by the existence of an auxiliary opening between the ventricles due to a deficiency of tissue of the posterior (sinus part) of the septum. Type B is characterized by the absence (or marked hypoplasia) of the septum of the conus (SC). The LV OT in this case drains under both (aortic and pulmonary) coni. In type C the LV OT opens into the subpulmonary conus. In distinction from type C, type DC has an auxiliary defect in the sinus part of the interventricular septum (IVS). Type D is characterized by complete obturation of the exit and the absence of a defect in the sinus part of the IVS (type D1: OAPA RV with an intact IVS) or with a sinus defect in the IVS-DIVS (type D2: OAPA RV with noncommitted DIVS). According to the presence or absence of stenosis of the pulmonary artery (PA) or aorta, 4 subtypes are distinguished: (1) without stenosis; (2) with stenosis of PA; (3) with aortic stenosis; (4) with combined aortic and pulmonary stenosis.

Adolescent↗

PubMedDate not supplied

[Establishment of a group classification of isolated cells using anti-A and anti-B monoclonal antibodies].

Anti-A and anti-B monoclonal antibodies may be used for determination of ABO system A and B antigens in mixed agglutination reaction. The authors suggested a variant of this reaction which ensures reliability of antigen detection in cells of people of secretor state. Investigation of mixed traces (liquid salivary part and buccal epithelium cells) showed that three-fold washing of cells couldn't provide for reliable identification of their blood group.

ABO Blood-Group System↗

PubMed1998

Unicystic ameloblastoma. A review of 193 cases from the literature.

Based on a world-wide literature survey of 193 published cases of unicystic ameloblastomas (UA), data have been produced allowing the presentation of a revised concept of this much debated lesion. UA is a variant of the solid or multicystic ameloblastoma. Radiographically, the unilocular pattern is more common that the multilocular, especially in cases associated with tooth impaction. However, it is stressed that although the lesion is pathomorphologically unicystic, it will far from always produce a unilocular radiolucency. The mean age at the time of diagnosis of UA is closely related to an association with an impacted tooth. Almost 20 years separate the mean age of the 'dentigerous' variant from the 'non-dentigerous' (16.5 years versus 35.2 years) The male:female ratio for the 'dentigerous' type is 1.5:1, but for the 'non-dentigerous' type it is reversed (1:1.8). Location favours greatly the mandible (mandible to maxilla = 3 to 13:1). Between 50 and 80% of cases are associated with tooth impaction, the mandibular third molar being most often involved. The 'dentigerous' type occurs on average 8 years earlier than the 'non-dentigerious' variant. The mean age for unilocular, impaction-associated UAs is 22 years, whereas the mean age for the multilocular lesion unrelated to an impacted tooth is 33 years. Histologically, the minimum criterion for diagnosing a lesion as UA is the demonstration of a single cystic sac lined by odontogenic (ameloblastomatous) epithelium often seen only in focal areas. This simple type of UA (according to the authors' modification of the classification by Ackermann et al. (Journal of Oral Pathology 1988; 17:541-546)), is one of four UA subtypes, the others being (1) simple with intralumenal proliferations; (2) simple with both intralumenal and intramural proliferations; and (3) simple with intramural proliferations only. All four subtypes occur in both the 'dentigerous' and 'non-dentigerous' variants. The simple subtype with and without intralumenal proliferations may be treated conservatively (enucleation), whereas subtypes showing intramural growths must be treated radically, i.e. as a solid or multicystic ameloblastoma. Finally, the authors disclose areas and issues pertaining to UA that still need to be addressed.

Age Factors↗

PubMed1992

The cementomas--a clinicopathological re-appraisal.

The aim of this study was to assess whether sub-classification of cemental tumors was warranted and to define the clinicopathological features of the definitive entities. Our sample consisted of 127 cases which were divided into the following categories; gigantiform cementoma (84 per cent), cementifying fibroma (12 per cent), benign cementoblastoma (4 per cent). Gigantiform cementoma lesions were either single, multiple or florid and ranged in size from 1 to 10 cm. Most occurred in patients in their 6th and 7th decades who were black (78 per cent) and female (96 per cent). All lesions showed typical solid sheets of acellular cementum and some (22 per cent) were characterised by peripheral proliferative areas which were often indistinguishable from lesions of cementifying fibroma and periapical cemental dysplasia. Infection and sequestration was very common (54 per cent). No cases of periapical cemental dysplasia were found and we suggest that this lesion is a variant of gigantiform cementoma. We believe cementifying fibroma to be part of the histomorphological spectrum of cemento-ossifying fibroma. Cemento-osseous dysplasia is a more accurate and appropriate term than gigantiform cementoma and we recommend the following classification for cemental 'tumors': cemento-ossifying fibroma; cementoblastoma; cemento-osseous dysplasia, single, multiple and florid sub-types.

Adolescent↗

PubMedDate not supplied

[Mastocytosis, classification, biological diagnosis and therapy].

In mast cell (MC) disorders (mastocytosis), clinical symptoms are caused by the release of chemical mediators from MCs, the pathologic infiltration of neoplastic MCs in tissues, or both. Cutaneous mastocytosis is a benign disease in which MC infiltration is confined to the skin. In pediatric cases cutaneous mastocytosis might regress spontaneously. Systemic mastocytosis (SM) is more frequently diagnosed in adults and is a persistent (clonal) disease of bone marrow-derived myelomastocytic progenitors. The somatic c-kit mutation D816V is found in the majority of such patients. The natural clinical course in SM is variable. Whereas most patients remain at the indolent stage for many years, some have aggressive SM (ASM) at diagnosis. Other patients have an associated clonal hematologic none MC lineage disease (AHNMD). MC leukemia (MCL) is a rare disease variant characterized by circulating MCs and fatal disease progression. Two important diagnostic clues in SM are an increased serum tryptase level and the presence of abnormal mast cells in the bone marrow. The current review provides an overview of mastocytosis and its subvariants, the new classification of these diseases, a practical guide for the biological diagnosis and advances and future directions in therapy of these pathologies.

Bone Marrow Examination↗

PubMedDate not supplied

Incidence of morphological variants of mandibular lingula.

The ligual of mandible is a tongue shaped bony projection on the medical surface of the ramus close to the posterior margin of the mandibular foramen. Since the inferior alveolar nerve enters the mandibular foramen to supply the strctures of the lower jaw, the relationship of lingula to the inferior alveolar nerve is of clinical significance to dental surgeons. It becomes a necessety to know the morphology of linguls so as to preserve the important structures during surgical interference of mandible around the lingula region. The present study was undertaken mainly to establish the frequency of various morphological types of lingula in adult human mandibles of South Indian background. The material for this study comprised of a collection of 147 (294 sides) dry adult human mandibles. In each mandible, the lingula was scored using the classification proposed by Tuli et al (2000). More frequently observed bilaterally were the Truncated and Nodular types. These two types occurred more frequently unilaterally as well. The assimilated type, whether unilateral or bilateral was more or lesws similar in frequency along with other non metric variants of the skull, morphological types of lingula can also be useful as anthropological marker to assess population and recial distances.

Adult↗

PubMed1979

[Benign multilocular cystic nephroma versus cystic nephroblastoma. A review and classification of cystic metanephric neoplasms (author's transl)].

A review of reported cases of cystic metanephric tumors is given. It is shown that among these neoplasms two distinct pathologic entities exist: the cystic nephroblastoma and the benign multilocular cystic nephroma. The former, a benign variant of Wilms' tumor, is found in children of younger age. Its possible precursor is the infantile form of nephroblastomatosis. The second neoplasm, a clinically and biologically benign tumor, occurs in older children and in half of the cases it is also encountered in adults. It derives from metanephric hamartomas which have their origin in the huvenile form of nephroblastomatosis.

Age Factors↗

PubMed2002

Comment: studies of the Pro12Ala polymorphism of the PPAR-gamma gene in the Danish MONICA cohort: homozygosity of the Ala allele confers a decreased risk of the insulin resistance syndrome.

The Pro12Ala polymorphism of PPAR-gamma 2 has been shown to influence insulin sensitivity and the risk of type 2 diabetes in various ethnic populations. We examined whether the polymorphism was related to the insulin resistance syndrome (IRS) among nondiabetic Danish subjects. The Pro12Ala variant was examined using PCR-restriction fragment length polymorphism in a phenotypically well characterized population-based sample of 2245 nondiabetic subjects. The study participants were characterized by a number of anthropometric and biochemical measurements and the European Group for the Study of Insulin Resistance criteria enabling a classification of the study population in an IRS group and a non-IRS group. The allelic frequency of the Pro12Ala polymorphism in the total study sample was 14% (95% confidence interval, 13-15%). Two hundred ninety-four subjects fulfilled the European Group for the Study of Insulin Resistance criteria defining the IRS. The frequency of the Ala allele was 12.6% in the IRS group and 14.2% among subjects classified as not having the IRS (P = 0.15). However, the frequency of the variant in the homozygous form was significantly lower in the IRS group [0.7% (0-1.6%)] compared with the frequency in the non-IRS group [2.8% (2.1-3.5%); P = 0.02; odds ratio, 0.24 (0.06-0.99)]. Moreover, in the total study population, homozygous carriers of the variant had lower levels of fasting serum triglyceride [1.1 +/- 0.4 mmol/liter (means +/- SD) vs. 1.4 +/- 0.9 mmol/liter; P = 0.04] and a lower diastolic blood pressure (79 +/- 8 mm Hg vs. 82 +/- 11 mm Hg; P = 0.01) compared with wild-type carriers. The same tendency was observed with regard to the homeostasis model assessment estimate of insulin resistance (P = 0.16). There were no differences between genotype groups with respect to measures of body composition (BMI and waist circumference). In conclusion, homozygosity of the codon 12 variant of PPAR-gamma 2 confers a reduced risk of the IRS among Danish Caucasian subjects.

Adult↗

PubMed2007

High-order interactions among genetic variants in DNA base excision repair pathway genes and smoking in bladder cancer susceptibility.

Cancer is a common multifactor human disease resulting from complex interactions between many genetic and environmental factors. In this study, we used a multifaceted analytic approach to explore the relationship between eight single nucleotide polymorphisms in base excision repair (BER) pathway genes, smoking, and bladder cancer susceptibility in a hospital-based case-control study. Overall, we did not find an association between any single BER gene single nucleotide polymorphism and bladder cancer risk. However, in stratified analysis, the OGG1 S326C variant genotypes in ever smokers (odds ratio, 0.74; 95% confidence interval, 0.56-0.99) and ADP-ribosyltransferase (ADPRT) V762A variant genotypes in never smokers (odds ratio, 0.58; 95% confidence interval, 0.37-0.91) conferred a significantly reduced risk. Using logistic regression, we observed that there was a two-way interaction between ADPRT V762A and smoking status. We next used classification and regression tree analysis to explore high-order gene-gene and gene-environment interactions. We found that smoking is the most important influential factor for bladder cancer risk. Consistent with the above findings, we found that the ADPRT V762A was only significantly involved in bladder cancer risk in never smokers and the OGG1 S326C was only significantly involved in ever smokers. We also observed gene-gene interactions among OGG1 S326C, XRCC1 R194W, and MUTYH H335Q in ever smokers. Using multifactor dimensionality reduction approach, the four-factor model, including smoking status, OGG1 S326C (rs1052133), APEX1 D148E (rs3136820), and ADPRT762 (rs1136410), had the best ability to predict bladder cancer risk with the highest cross-validation consistency (100%) and the lowest prediction error (37.02%; P < 0.001). These results support the hypothesis that genetic variants in BER genes contribute to bladder cancer risk through gene-gene and gene-environmental interactions.

Algorithms↗

PubMed1995

Primary central nervous system lymphomas--new pathological developments.

Primary central nervous system lymphomas (PCNSL) show increased incidence both in immunocompromised high-risk groups and in the general population. They are extranodal diffuse non-Hodgkin's lymphomas with a morphology similar to systemic lymphomas, but differ in their biological and molecular behaviour. The majority are large B-cell variants of high-grade malignancy; low-grade subtypes and T-cell lymphomas are rare; up to 50% remain unclassified according to the New Working Formulation and updated Kiel classification. Monoclonality of immunoglobulin receptor gene rearrangement can be diagnostically useful. The pathogenesis of PCNSL is obscure. Epstein-Barr virus (EBV) genome/proteins expression in two-thirds of HIV-related PCNSL but only in 15% of those in immunocompetent patients suggest different EBV latency stages in both types; human herpesvirus type 6 does not appear to play a pathogenic role. Comparison of expression patterns of integrin chains and adhesion molecules are very similar for PCNSL and nodal lymphomas suggesting that they are not selective mediators of lymphoma cell homing to the brain. In HIV-negative PCNSL they appear not to be influenced by EBV. Studies of protooncogenes (bcl-1 and bcl-2 genes) revealed no rearrangement in PCNSL, suggesting that they are not involved in the pathogenesis of PCNSL that probably do not differ cytogenetically from nodal B-cell lymphomas. Since most of the currently known molecular parameters are probably not the primary pathogenic events, the molecular genetics and pathogenesis of PCNSL are still to be elucidated.

Cell Adhesion Molecules↗

PubMed2004

Mayer-Rokitansky syndrome and anorectal malformation.

Mayer Rokitansky Kuster Houser syndrome (MRKH syndrome) is characterized by Mullerian duct structures agenesis, vaginal atresia being the commonest variant. It can be associated with renal, skeletal, spine and other malformations. Patient with Mayer Rokitansky syndrome has a varied presentation from newborn period to adolescence. Thorough investigations are required for classification of the syndrome and diagnosis of associated anomalies. The MRKH syndrome patient may require complex vaginal reconstructive surgery and a detailed counseling about the potentials of menstruation and fertility. Here we are presenting a patient having association of anorectal malformation, Mullerian duct agenesis and renal anomaly.

Abnormalities, Multiple↗

PubMed2005

Detection of temporal changes in the spatial distribution of cancer rates using local Moran's I and geostatistically simulated spatial neutral models.

This paper presents the first application of spatially correlated neutral models to the detection of changes in mortality rates across space and time using the local Moran's I statistic. Sequential Gaussian simulation is used to generate realizations of the spatial distribution of mortality rates under increasingly stringent conditions: 1) reproduction of the sample histogram, 2) reproduction of the pattern of spatial autocorrelation modeled from the data, 3) incorporation of regional background obtained by geostatistical smoothing of observed mortality rates, and 4) incorporation of smooth regional background observed at a prior time interval. The simulated neutral models are then processed using two new spatio-temporal variants of the Morany's I statistic, which allow one to identify significant changes in mortality rates above and beyond past spatial patterns. Last, the results are displayed using an original classification of clusters/outliers tailored to the space-time nature of the data. Using this new methodology the space-time distribution of cervix cancer mortality rates recorded over all US State Economic Areas (SEA) is explored for 9 time periods of 5 years each. Incorporation of spatial autocorrelation leads to fewer significant SEA units than obtained under the traditional assumption of spatial independence, confirming earlier claims that Type I errors may increase when tests using the assumption of independence are applied to spatially correlated data. Integration of regional background into the neutral models yields substantially different spatial clusters and outliers, highlighting local patterns which were blurred when local Moran's I was applied under the null hypothesis of constant risk.

Journal Article↗

PubMed1985

C-banding studies in lymphocytes from patients with tumors of the nervous system.

C-banding studies were performed on cultured peripheral blood lymphocytes from 100 patients with tumors of the nervous system and 30 controls. The classification of Patil and Lubs and the heterochromatic index (HI) of Neeley were used to evaluate the heteromorphism. No overall significant differences were found in the frequency of C-band variants when the findings in both tumoral populations and controls were compared, but we did find an excess of 9qh inversions in some groups of tumor patients. An increase in the amount of heterochromatin in patients with pituitary adenomas and high malignancy grade astrocytomas was noted.

Chromosome Banding↗

PubMed2004

Complete, superior labral radial tear and type II slap tear associated with greater tuberosity fracture.

This case report presents a unique variant of superior labral-bicep complex injury. The combination of a complete anterior-superior radial tear of the labrum and bicep anchor instability has not been described in previous classifications of these injuries. The injury was traumatic in nature and was associated with a displaced fracture of the greater tuberosity. The labral pathology was treated by an anatomic repair technique as described. Rationale for the repair performed, as well as implications of the injury treated by debridement alone, are discussed. Clinicians should be aware of different patterns of superior labral-bicep complex injuries and the implications on function and stability of the glenohumeral joint.

Adult↗