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PubMed1992

Classification of the suprapatellar septum considering ontogenetic development.

At the end of the 4th fetal month, the suprapatellar septum completely separates the knee joint cavity from the suprapatellar bursa. A perforation of the septum normally occurs at the end of the 5th fetal month. Mechanical factors, such as the pressure and friction of the quadriceps tendon on the condylar surface, are said to determine the form and extent of the perforation. Anatomic studies of adult knee joints revealed four variants in the further development of the suprapatellar septum, namely, a completely preserved septum (complete septum), a perforated septum with the communication between suprapatellar bursa and knee joint cavity differing in localization and number (perforated septum), a residual septum in the form of a fold that is almost always in a medial localization (residual septum), or a completely involuted septum (extinct septum). The clinical term "suprapatellar synovial plica" should not be used as a synonym for the expression "suprapatellar septum." The suprapatellar synovial fold corresponds to the residual septum and thus is only one of the four types of the suprapatellar septum.

Aged↗
PubMed1996

Heterogeneity of hepatitis C virus genotype 2 variants in West Central Africa (Guinea Conakry).

An overall anti-hepatitis C virus (HCV) prevalence of 6.7% was found in a sero-epidemiological study carried out in the town of Conakry (Guinea Conakry, West Central Africa) on 1421 subjects who were either blood donors, pregnant women or in- and outpatients receiving treatment for conditions other than liver disease. Seven HCV isolates from a subsample of 73 sterile sera from this population were studied for genetic characterization and classification. The 5'NCR was analysed by the Line Probe Assay. This method assigned the isolates to genotype 2. Analysis of the 5'NCR sequences alone was unable to give a more accurate classification. Comparison of NS5b region sequences (nucleotides 7575-8196), from Guinea isolates and genotype 2 database sequences, showed evolutionary distances in the range 0.15-0.26. There was a high level of subtype heterogeneity among the genotype 2 Guinea HCV isolates. Four of the subtypes were possibly new.

Base Sequence↗
PubMed1991

Morphology and mobility of oyster hemocytes: evidence for seasonal variations.

Hemocytes of Crassostrea virginica were video recorded and tracked to determine their locomotive rates and to assign these rates to Wright-stained morphological variants. From 24 oysters examined in January, February, March, and May, 1571 hemocytes were video recorded, identified, and their rate of locomotion (ROL) measured. Granulocytes (three types) and agranulocytes (one lymphoid and three nonlymphoid types) were recognized. Focusing on 15 oysters in March and May, 20,318 hemocytes were counted from duplicate slides to verify the classification and to show that predominant hemocytes vary greatly between samples and among individual oysters, yet population differences can be detected. Measured rates of locomotion indicate that the granulocyte subpopulation moved significantly faster (3.3 microns/min) than the agranulocyte subpopulation (0.7 microns/min) because most (81%) agranulocytes were not mobile. Of the mobile hemocytes, granulocytes were also significantly faster (4.8 microns/min vs. 3.5 microns/min, P less than 0.0001), and basophilic granulocytes (BASOs) were the most active and abundant cell type. Examination of monthly percentages of cells and ROL indicates, however, that granulocyte dominance and ROL are not invariable. Granulocyte percentages of more than 60% in January, February, and March decreased to 32% in May, and BASO dominance was reduced to 15%. Further, percentages of mobile granulocytes decreased from greater than 65% in January, February, and March to 50% in May. ROL for all cells decreased from greater than 2.3 microns/min in these months to 1.0 microns/min in May. The fewer mobile hemocytes tracked in May had significantly (P less than .05) lower average ROL (4.0 microns/min) than those in January and March (4.7 microns/min each). Agranulocytes increased in May due to an increase in nonlymphoid cells.

Animals↗
PubMed1998

Endogenous proteolytic cleavage of normal and disease-associated isoforms of the human prion protein in neural and non-neural tissues.

We have investigated the proteolytic cleavage of the cellular (PrPC) and pathological (PrPSc) isoforms of the human prion protein (PrP) in normal and prion-affected brains and in tonsils and platelets from neurologically intact individuals. The various PrP species were resolved after deglycosylation according to their electrophoretic mobility, immunoreactivity, Sarkosyl solubility, and, as a novel approach, resistance to endogenous proteases. First, our data show that PrPC proteolysis in brain originates amino-truncated peptides of 21 to 22 and 18 (C1) kd that are similar in different regions and are not modified by the PrP codon 129 genotype, a polymorphism that affects the expression of prion disorders. Second, this proteolytic cleavage of PrPC in brain is blocked by inhibitors of metalloproteases. Third, differences in PrPC proteolysis, and probably in Asn glycosylation and glycosylphosphatidylinositol anchor composition, exist between neural and non-neural tissues. Fourth, protease-resistant PrPSc cores in sporadic Creutzfeldt-Jakob disease (CJD) and Gerstmann-Sträussler-Scheinker F198S disease brains all have an intact C1 cleavage site (Met111-His112), which precludes disruption of a domain associated with toxicity and fibrillogenesis. Fifth, the profile of endogenous proteolytic PrPSc peptides is characteristic of each disorder studied, thus permitting the molecular classification of these prion diseases without the use of proteinase K and even a recognition of PrPSc heterogeneity within type 2 CJD patients having different codon 129 genotype and neuropathological phenotype. This does not exclude the role of additional factors in phenotypic expression; in particular, differences in glycosylation that may be especially relevant in the new variant CJD. Proteolytic processing of PrP may play an important role in the neurotropism and phenotypic expression of prion diseases, but it does not appear to participate in disease susceptibility.

Aged↗
PubMed2001

Building 3D sulcal models using local geometry.

This paper presents a series of 3D statistical models of the cortical sulci. They are built from points located automatically over the sulcal fissures, and corresponded automatically using variants on the iterative closest point algorithm. The models are progressively improved by adding in more and more structural and configural information, and the final results are consistent with findings from other anatomical studies. The models can be used to locate and label anatomical features automatically in 3D MR images of the head, for analysis, visualisation, classification, and normalisation.

Atlases as Topic↗
PubMed1983

Exocrine pancreatic tumours and their histological classification. A study based on 167 autopsy and 97 surgical cases.

Based on histopathological examination of 264 exocrine pancreatic tumours (167 autopsy and 97 surgical) from the files of the Institute of Pathology, University of Hamburg, over a 15-yr period (1966-1980), a histogenetic classification is proposed. In addition to the more common neoplasms this also includes rarer and more recently defined entities. Of the 264 tumours, 250 were of duct origin, 10 acinar and four of uncertain histogenesis. Ductal adenocarcinoma, subdivided into a well-differentiated and a poorly-differentiated type, was most frequent (81.1%), followed by its variants: pleomorphic giant cell carcinoma 5.3%, adenosquamous carcinoma 3.8%, and mucinous carcinoma 1.1%. All these had a poor prognosis. Serous cystadenoma (1.1%), mucinous cystic tumour (1.5%) and intraductal papilloma (0.8%), which were rare tumours and mostly apparent in surgical material, proved to be benign or of only latent malignancy. The group of tumours of acinar cell origin consisted of the solid and cystic tumour (2.7%) with favourable prognosis and the acinar cell carcinoma (1.1%). No pancreatoblastoma was observed. The pleomorphic carcinomas of the small cell type (1.5%) were classed as tumours of uncertain histogenesis.

Adenocarcinoma↗
PubMed2003

Biochemical and clinical aspects of the human flavin-containing monooxygenase form 3 (FMO3) related to trimethylaminuria.

Trimethylaminuria is a rare metabolic disorder that is associated with abnormal amounts of the dietary-derived trimethylamine. Excess unmetabolized trimethylamine in the urine, sweat and other body secretions confers a strong, foul body odor that can affect the individual's ability to work or engage in social activities. This review summarizes the biochemical aspects of the condition and the classification of the disorder into: 1) primary genetic form, 2) acquired form, 3) childhood forms, 4) transient form associated with menstruation, 5) precursor overload and 6) disease states. The genetic variability of the flavin-containing monooxygenase (form 3) that is responsible for detoxication and deodoration of trimethylamine is discussed and put in context with other variant forms of the flavin-containing monooxygenase (forms 1-5). The temporal-selective expression of flavin-containing monooxygenase forms 1 and 3 is discussed in terms of an explanation for childhood trimethylaminuria. Information as to whether variants of the flavin-containing monooxygenase form 3 contributes to hypertension and/or other diseases are presented. Discussion is provided outlining recent bioanalytical approaches to quantify urinary trimethylamine and trimethylamine N-oxide and plasma choline as well as data on self-reporting individuals tested for trimethylaminuria. Finally, trimethylaminuria treatment strategies and nutritional support are described including dietary sources of trimethylamine, vitamin supplementation and drug treatment and issues related to trimethylaminuria in pregnancy and lactation are discussed. The remarkable progress in the biochemical, genetic, clinical basis for understanding the trimethylaminuria condition is summarized and points to needs in the treatment of individuals suffering from trimethylaminuria.

Animals↗
PubMed2005

Z-138 cell line was derived from a patient with blastoid variant mantle cell lymphoma.

The Z-138 cell line, reported in the journal in 1998, was derived from a patient who developed a leukemia initially classified as chronic lymphocytic leukemia in 1987. Splenectomy for massive involvement was required in 1998 and the neoplasm subsequently transformed to an aggressive, mature B-cell leukemia 2 years later. At time of transformation, the neoplasm had a complex karyotype, including the t(11;14)(q13;q32). In light of the extensive updates in lymphoma classification that have occurred since that time, we reviewed the slides of the patient's neoplasm. The initial peripheral blood and bone marrow aspirate smears and the spleen were involved by numerous small lymphocytes with mature chromatin. The last bone marrow specimen was involved by slightly larger, irregular lymphocytes with immature chromatin and a high mitotic rate. Immunohistochemical analysis performed on the spleen and last bone marrow for this report showed that the neoplastic cells over-expressed cyclin D1. According to the criteria of the current World Health Organization lymphoma classification, this neoplasm is best classified as mantle cell lymphoma, with blastoid transformation present in the terminal phase of disease.

Aged↗
PubMedDate not supplied

Design and evaluation of a molecular fingerprint involving the transformation of property descriptor values into a binary classification scheme.

A new fingerprint design concept is introduced that transforms molecular property descriptors into two-state descriptors and thus permits binary encoding. This transformation is based on the calculation of statistical medians of descriptor distributions in large compound collections and alleviates the need for value range encoding of these descriptors. For binary encoded property descriptors, bit positions that are set off capture as much information as bit positions that are set on, different from conventional fingerprint representations. Accordingly, a variant of the Tanimoto coefficient has been defined for comparison of these fingerprints. Following our design idea, a prototypic fingerprint termed MP-MFP was implemented by combining 61 binary encoded property descriptors with 110 structural fragment-type descriptors. The performance of this fingerprint was evaluated in systematic similarity search calculations in a database containing 549 molecules belonging to 38 different activity classes and 5000 background molecules. In these calculations, MP-MFP correctly recognized approximately 34% of all similarity relationships, with only 0.04% false positives, and performed better than previous designs and MACCS keys. The results suggest that combinations of simplified two-state property descriptors have predictive value in the analysis of molecular similarity.

Computing Methodologies↗
PubMed1999

Molecular evolution of the human enteroviruses: correlation of serotype with VP1 sequence and application to picornavirus classification.

Sixty-six human enterovirus serotypes have been identified by serum neutralization, but the molecular determinants of the serotypes are unknown. Since the picornavirus VP1 protein contains a number of neutralization domains, we hypothesized that the VP1 sequence should correspond with neutralization (serotype) and, hence, with phylogenetic lineage. To test this hypothesis and to analyze the phylogenetic relationships among the human enteroviruses, we determined the complete VP1 sequences of the prototype strains of 47 human enterovirus serotypes and 10 antigenic variants. Our sequences, together with those available from GenBank, comprise a database of complete VP1 sequences for all 66 human enterovirus serotypes plus additional strains of seven serotypes. Phylogenetic trees constructed from complete VP1 sequences produced the same four major clusters as published trees based on partial VP2 sequences; in contrast to the VP2 trees, however, in the VP1 trees strains of the same serotype were always monophyletic. In pairwise comparisons of complete VP1 sequences, enteroviruses of the same serotype were clearly distinguished from those of heterologous serotypes, and the limits of intraserotypic divergence appeared to be about 25% nucleotide sequence difference or 12% amino acid sequence difference. Pairwise comparisons suggested that coxsackie A11 and A15 viruses should be classified as strains of the same serotype, as should coxsackie A13 and A18 viruses. Pairwise identity scores also distinguished between enteroviruses of different clusters and enteroviruses from picornaviruses of different genera. The data suggest that VP1 sequence comparisons may be valuable in enterovirus typing and in picornavirus taxonomy by assisting in the genus assignment of unclassified picornaviruses.

Amino Acid Sequence↗
PubMed1995

Evolution of coronary artery pattern according to short-axis aortopulmonary rotation: a new categorization for complete transposition of the great arteries.

OBJECTIVES: We studied the correlation between coronary artery pattern and aortopulmonary rotation in complete transposition of the great arteries. BACKGROUND: Classifications of the coronary arteries in complete transposition are puzzling and incomplete. METHODS: Coronary artery anatomy and relation of the great arteries were identified at angiography, echocardiography, surgical intervention or autopsy in 76 patients with complete transposition from 1988 to 1993. Five main types (type 0 and Shaher types 1,2,4 and 9) and their similar variants of epicardial configuration were categorized into five patterns (O, I, II, IV and IX). In addition, data from 568 cases from published reports were collected for analysis. RESULTS: As the aorta rotated from a left anterior to a directly anterior location relative to the pulmonary trunk, the left anterior descending coronary artery arose from the left-hand sinus together with the right coronary artery (type 0, one case decreased to no cases); then it gradually shifted to the left to have the same origin as the left circumflex coronary artery from the right-hand sinus (type 1, 10 cases increased to 146, p < 0.0003). When the aorta rotated farther clockwise from directly anterior to right anterior (type 1, 146 cases increased to 235; type 2, 9 cases increased to 50, p < 0.0006) or from right anterior to right lateral (type 1, 235 cases decreased to 6 cases; type 2, 50 cases decreased to 20, p < 0.00000), the left circumflex coronary artery tended to move retropulmonically and originated from the left-hand sinus with the right coronary artery (type 2). When the aorta moved from right anterior to right lateral (type 2, 50 cases decreased to 20; type 4, 13 cases increased to 14, p < 0.031) or from right lateral to right posterior (type 2, 20 cases decreased to 1; type 4, 14 cases increased to 16, p < 0.0003), the right coronary artery shifted to the right-hand sinus anteaortically to join the left anterior descending coronary artery (type 4). Finally, the left anterior descending coronary artery combined with the left circumflex coronary artery (type 9, 12 cases increased to 21, p = 0.407) to become the usual pattern for normally related great arteries. Eta-square analysis showed that the evolution from pattern O to IX was dependent on clockwise aortopulmonary rotation. CONCLUSIONS: The coronary arteries in complete transposition of the great arteries can be classified into five patterns and their evolution deduced on the basis of aortopulmonary rotation. Dependence of coronary artery type on aortopulmonary rotation made it possible to anticipate the coronary pattern from the relation of the great arteries in transposition.

Adolescent↗
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↗
PubMed1979

[Angiocardiography in the diagnosis of congenital bulboventricular heart defects. Anatomopathological and angiocardiographic correlations].

Current surgical methods enable radical treatment of the most bulboventricular malformations (syn. conotruncal malformations, transposition complex). The defects, which were until now the field of embryologist and pathologist, require accurate and precise clinical diagnosis of the anomaly. The purpose of this analysis was to estimate the ability of angiocardiography for diagnosis of bulboventricular malformations considering the type of essential anomaly, its exact morphology and character of coexisting malformations. The report represents 49 cases with pathological diagnosis of bulboventricular malformations in children, in which during hospitalization angiocardiography has been performed. The cases were selected from 1918 angiocardiographies and also from 987 cases of pathological specimens with congenital heart diseases in the years 1970-1977. There were: 33 cases of TGA, in these 2 with corrected TGA, 3 cases of DORV, 1 case of DOLV , 12 cases of CV. All cases showed the broad spectrum of variants in position of the great arteries and kind of conus apart from type of basic anomaly. Septal defects, pulmonary orifice stenosis or atresia and anomalies of atrio-ventricular orifices particularly in common ventricle were mostly coexisting malformations. To recognize essential anomaly we estimated atrio-ventricular and ventriculo-arterial relation (connection), based on Kirklin classification. The conuses and position of the trunk of the great arteries were treated as pathomorphologic details, that had no influence on essential diagnosis of malformation. Arbitrary accepted definition and nomenclature was based on data from bibliography. Angiocardiography was made using full-size filmchanger AOT with maximal frequency 6 frames/sec. Contrast medium injected mainly into the ventricles. X-rays were performed usually immediately in two projections. Comparison of the angiocardiographic diagnosis with pathology of the hearts showed the correct diagnosis of the essential malformation, by means of angiocardiography, in more than 80% cases. But the diagnosis percentage in particular elements of malformation varied from 2/3 to 1/3 according to the type of malformation. The absence of the correct diagnosis of the essential anomaly, based on type of relations, was the lack of visualization of all heart cavities (in some cases), which was conditioned by the method. On the other hand the correct angiocardiographic diagnosis was sometimes impossible, because of very complicated anatomical situation in malformed hearts.(ABSTRACT TRUNCATED AT 400 WORDS)

Angiocardiography↗
PubMed1987

Unusual microscopic forms of experimental mesotheliomas.

A lightmicroscopic study is made on 36 pleural and 68 peritoneal experimental mesotheliomas induced in white rats by intrapleural and intraperitoneal introduction of asbestos dust. The experimental tumors were compared with 10 spontaneous human mesotheliomas (8 pleural and 2 peritoneal mesotheliomas). The analysis revealed 4 types of morphologically specific experimental mesotheliomas, which could not be referred to the classifications used. In this group are included: a) large cell alveolar, b) small cell alveolar; c) adenocystic; d) with squamous metaplasia and keratinization. The observed unusual experimental lightmicroscopic forms of mesotheliomas support the opinion for great plastic abilities of mesothelium, and the presence of squamous metaplasia with keratinization may be a reason for considering it as a variant of epithelium.

Animals↗
PubMed1999

Genotype-phenotype correlations in disorders of peroxisome biogenesis.

Genetically determined human peroxisomal disorders are subdivided into two major categories: disorders of peroxisome biogenesis (PBD), in which the organelle is not formed normally, and those that involve a single peroxisomal enzyme. Twelve PBD have been identified, and the molecular defects have been defined in 10. All involve defects in the import of proteins into the organelle. Factors required for this import are now referred to as peroxins (PEX) and form the basis of a new and preferred classification system. The PBD are associated with four clinical phenotypes, named before their association with the organelle was recognized: Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP). The first three are associated with 9 of the 10 PEX defects that have been defined so far, and represent a clinical continuum with variant severity, with ZS the most severe, NALD intermediate, and IRD the least severe. RCDP is associated with PEX7. Genotype-phenotype correlations are complicated by the fact that the clinical manifestations of the ZS-NALD-IRD continuum can be mimicked by disorders that affect single enzymes of peroxisomal fatty acid oxidation, and PEX7 by disorders of plasmalogen synthesis enzymes. Furthermore, clinical manifestations of each of the PEX disorders may vary. Phenotypic expression varies with the nature of the mutation, the milder phenotypes being associated with mutations that do not abolish function completely, or with mosaicism. Definition of the molecular defects is of great value for genetic counseling and may be of aid in establishing prognosis.

Genotype↗
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↗
PubMed1986

DSM-III diagnoses in chronic pain. Confusion or clarity?

The assessment of patients with chronic pain is receiving increasing attention by psychiatrists. Recent publications have put forward the concept of the "pain-prone disorder" as a variant of depressive illness. This study describes a series of 50 consecutive patients with chronic pain in terms of the five axes of the DSM-III nosology. Diagnoses were made after a 90- to 120-minute psychiatric interview, and a check on diagnostic reliability was made on a small subsample. Psychological factors affecting physical condition were diagnosed in 34% and dysthymic disorder was diagnosed in 28%, while major depression, psychogenic pain disorder, somatization disorder, and anxiety disorders were each respectively diagnosed in 8%. Only 6% had no diagnosis on axis I and 4% had no diagnosis on axis III. Personality disorder was diagnosed in 40%, and traits of dependence, compulsiveness, and anxiety were common. Overall, the patients had experienced a high degree of psychosocial stress with fair to poor adaptive functioning. The notion of chronic pain as a variant of depressive disease is questioned on the basis of these findings. The author suggests that although pain-proneness is a useful psychodynamic concept, the case for its establishment as a new psychobiological disorder is not proven. Furthermore, the concepts of pain-proneness, depression, and psychogenic pain have become confused. The author argues that the current classification is adequate to deal with the varieties of depression associated with chronic pain and that psychogenic pain disorder should be remerged with conversion disorder for the sake of clarity.

Adolescent↗