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PubMed1995

Phylogeny of Serpulina based on sequence analyses of the 16S rRNA gene and comparison with a scheme involving biochemical classification.

Twenty-one putative Serpulina strains, representing six proposed biochemical groups, were selected for phylogenetic studies based on 16S rRNA sequencing. The biochemical groups were distinguished by the degree of beta-haemolysis, indole production, hippurate hydrolysis and alpha-galactosidase-, and beta-glucosidase activity. The 16S rRNA sequences of the U2 to U5 region, including three evolutionarily variable regions, from representatives of each biochemical group were determined by automated solid phase DNA sequencing after in vitro amplification by the polymerase chain reaction (PCR). The sequences generated were 532 nucleotides in length. Sequence alignments showed that all the strains were closely related, with six informative positions in the region sequenced. A dendrogram was constructed from these data and compared with the tentative biochemical classification. The results support the proposed biochemical classification and indicate that at least five genetic variants of the genus Serpulina can be identified.

Animals↗
PubMed1987

The immunologic approach to analysis of malignant lymphoma. Mantle zone lymphoma of the ileocecal region.

We studied an unusual type of lymphoma of the ileocecal region using an established protocol that combines morphologic, flow cytometric, and immunohistochemical analyses. This lymphoma grew as multiple submucosal nodules, some of which had coalesced into a mass in the terminal ileum. Histologically, the lesion resembled a lymphoma of follicular center-cell origin except for germinal centers that appeared reactive and greatly expanded follicular mantles. Flow cytometric studies showed that the lymphoma contained a monoclonal, kappa+ population of B-lymphocytes. Evaluation of sections of frozen tissue by an immunoperoxidase technique revealed that the germinal centers were polyclonal (nonneoplastic) and that the neoplastic cells were confined to the mantle zone. The additional information led to classification of the neoplasm as the mantle zone variant of intermediate lymphocytic lymphoma. This type of lymphoma may pursue a more aggressive course than a follicular lymphoma derived from the germinal center. We review our general approach to the analysis of hematolymphoid neoplasms and discuss how certain techniques may be useful adjuncts in the evaluation of these types of tumors.

Antibodies, Monoclonal↗
PubMed1994

Root length, crown height, and root morphology in Turner syndrome.

Root length, crown height, and root morphology were studied on intraoral and panoramic radiographs in 33 Turner syndrome patients aged 7.0-16.7 years, subdivided on the basis of karyotype. Thirty-three normal girls aged 10.2-16.4 years served as controls. In the 45X patients and, with the exception of a few teeth, also in the isochromosome and mosaic karyotypes, root length and crown height of incisors, canines, and premolars were significantly reduced. Some teeth showed altered crown-root proportions. Maxillary first premolars showed a significantly increased number of two-rooted and three-rooted variants. Mandibular premolars and molars had a complex root morphology, and a classification system was established including four premolar and six molar root types. Premolars had a significantly increased number of root components. Some of the variants, such as a molar-like second premolar, are apparently specific for these patients. On several first molars a radix entomolaris was identified. Two separate mesial and one or two separate distal roots were also frequently seen. Our investigation demonstrates that X-chromosome deficiency influences root formation.

Adolescent↗
PubMed1990

Major retroperitoneal venous anomalies: surgical considerations.

Nineteen major anomalies of the vena cava or its branches were encountered in patients requiring abdominal vascular surgery and related procedures at Barnes Hospital during the past 5 years. The classification of these anomalies, their embryologic development, associated variants, and surgical considerations are discussed. Careful review of preoperative computed tomographic scans and familiarity with these anatomic variants may allow the surgeon effectively to avoid potentially disastrous intraoperative consequences.

Humans↗
PubMed1989

[Nephroblastomas (Wilms' tumors) and special variations of nephroblastomas].

The results of the National Wilms' Tumor Study (NWTS) enabled the subdivision of nephroblastomas into subtypes with "favorable and unfavorable histology". Nephroblastomas with "unfavorable histology" could be discriminated by identifying those tumors not responding to therapeutic regimes proven successful for most cases with "favorable histology". A major disadvantage of the NWTS classification has been the exclusion of cytodifferentiated nephroblastoma variants, which, in contrast to typical nephroblastomas, can be cured by complete nephrectomy with wide excision of perinephric soft tissue. In the current study all types of nephroblastoma and nephroblastoma variants were included to encompass the whole morphological spectrum which these tumors may assume. This unselected material is necessary to define the relation between morphology and prognosis and to compare the treatment results of various clinical trials. Three hundred and four cases of nephroblastoma and related neoplasms on file at the Pediatric Tumor Registry, Kiel, were investigated by conventional light microscopy, electron microscopy, immunohistochemistry and DNA-flow cytometry. Of the "typical" nephroblastomas 50% occurred in the left kidney, 45% in the right kidney, and 5% were bilateral. Five cases were located in extrarenal sites. There were 121 males and 114 females. The peak incidence was noted in the third year of life. Of 135 patients 111 are alive and well, nine are living with disease, and 10 patients have died of disease. The blastemal predominant and stromal predominant types in our study were more frequent than in the NWTS. By contrast, the mixed and epithelial predominant types were more frequent in the NWTS. Patients with nephroblastomas of mixed or blastemal predominant type were older than those with epithelial predominant or stromal predominant type. Electron microscopy showed that nephroblastoma is derived from metanephric blastema. Blastemal cells are capable of differentiating into tubular epithelial cells and stromal cells. Undifferentiated blastemal cells contain exclusively vimentin intermediate filaments, better differentiated blastemal cells vimentin and cytokeratin, and stromal cells exclusively vimentin. Preoperative radio- and/or chemotherapy led to a marked reduction of undifferentiated blastema and poorly differentiated tubules, whereas better differentiated tubules, striated muscle, hyaline cartilage, cells with anaplastic and sarcomatous elements were not affected. Thus, identification of highly malignant nephroblastomas with anaplasia and sarcomatous renal tumors was even possible after preoperative treatment. Congenital mesoblastic nephroma (CMN; n = 17) is a low-grade malignant, cytodifferentiated nephroblastoma which very rarely occurs beyond the fourth month of life and has an excellent prognosis, provided it has been completely resected.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗
PubMed1985

Prognostic implications of blast cell morphology in childhood acute lymphoblastic leukemia: a report from the Childrens Cancer Study Group.

The Childrens Cancer Study Group (CCSG) has evaluated French-American-British (FAB) morphology in newly diagnosed children with acute lymphoblastic leukemia (ALL) since 1975. A modification of the FAB system was used in which individual lymphoblast cells were scored and designated as either L1 or L2 on the basis of distinctive morphologic characteristics. L1 ALL was defined as less than 10% L2 cells and greater than 90% L1 cells; L2 ALL was defined as greater than or equal to 10% L2 cells and less than 90% L1 cells. FAB morphology was an independent predictor of overall survival (P = 0.02) in CCSG-141 and a highly significant predictor of successful induction of complete remission and event-free survival in the CCSG-160 series (P = 0.00001). These studies involved nearly 3900 patients. Two concordance studies have been performed. In the first (1981) study, overall concordance between the FAB reference laboratory and member institutions was 76% using a two-category system (L1, non-L1), 86% for L1 cases, and 47% for non-L1 cases. In the second (1984) concordance study, the use of more stringent, semiquantitative definitions of L1 and L2 lymphoblasts did not improve overall (75%), L1 (89%), or non-L1 (46%) concordance. The results of reference laboratory classification more powerfully predicted event-free survival than did member institutions (P = 0.016 vs P = 0.125). Quality control factors (slide preparation, cellularity, staining quality, and discipline of the reviewer) did not influence concordance. These results justify the continued assignment of patients to protocols of the CCSG-100 series on the basis of the modified FAB classification. The biological significance of the FAB morphologic variants remains to be determined.

Child↗
PubMed1985

[Clinico-morphological characteristics and working classification of kidney diseases in patients with systemic scleroderma].

Based on a study of 110 patients with systemic scleroderma (SSD) (74 had involved and 36 uninvolved kidneys) the authors provide the clinico-functional and morphological characteristics of renal lesions and the working classification of sclerodermic nephropathy (SN). The two basic variants of SN were recognized: acute and chronic. The latter one was subdivided into clinical, moderate and pronounced SN. A correlation was revealed between the functional (glomerular filtration lowering) and ultrastructural (reticulation of endotheliocytes and thickening of the basal membrane of the glomerular capillaries) signs evidencing derangement of the microcirculatory bed. Morphological examination of the kidneys disclosed alterations that mirror the complex pathogenesis of SSD: derangement of the microcirculatory bed, immunopathological disorders, activation of connective tissue components.

Adolescent↗
PubMed1981

[Carcinoma of the major duodenal papilla].

The analysis of 134 postmortem cases and 65 clinical observations of carcinoma of the major duodenal papilla (MDP) has revealed different variants of development of carcinoma of MDP. The classification by the TNM system is made. In 34% of cases carcinoma was found to spread beyond the duodenum limit. Papillectomy should not be considered radical intervention. Average survival time after papillectomy was 17 months, after pancreatoduodenal resection it was 34 months. Fibroduodenoscopy, laparoscopic cholecystocholangiography in combination with relaxation duodenography was used for early diagnosis of carcinoma of MDP. Laparoscopic investigation was always accomplished by laparoscopic cholecystostomy which permitted avoiding hepatic insufficiency in the postoperative period.

Adult↗
PubMed1990

[Classification of the types of blood supply of the muscles from the standpoint of plastic surgery].

Based on an experience with 120 composite flaps including the muscle and with special account of literature data the author describes a new classification of types of blood supply of muscles. The author proposes 6 types of blood supply of muscles and substantiates a direct relationship between the anatomy of muscle vessels and variants of its use for plasty. A comparison of the new classification and other classifications was made.

Blood Vessels↗
PubMed1996

[The importance of the clinical classification of chronic glomerulonephritis for the prognosis of its progression and of the efficacy of therapy].

A significant correlation exists between clinical types of chronic glomerulonephritis (CGN) in a new clinical classification and morphological CGN types according to classification of WHO experts. Rapid progression is significantly correlated with clinicomorphological variants of CGN represented by unfavorable clinical types and unfavorable morphological types. No rapid progression occurred in combination of clinically favourable types and morphologically favourable and unfavorable types. The above classification is recommended for practice.

Adolescent↗
PubMed1991

[Effects of immunologic markers on prognosis in acute lymphoblastic leukemia in young children].

Altogether 77 children aged up to 3 years with acute lymphoblastic leukemia (ALL) were examined for the immunological phenotype of blast cells. L1, L1/L2, L2/L1, L2 variants of ALL and the undifferentiated one were established in accordance with criteria of the FAB classification. T1, zero and Ia immunosubvariants were recorded most frequently. Mature cell T2 and pre-B variants (3 and 2 cases, respectively) were rare; B-cellular acute lymphoblastic leukemia was lacking; the "common" subvariant was revealed in 28 patients. The patients' age produced the highest effect on the prognosis: the significantly least disease standing and remissions were noted in a group of children under 2 years as compared to those aged 2 to 3 years. As for immunological markers, expression of Thy1-antigen exerted an unfavourable effect on the prognosis and duration of the first remission.

Antibodies, Monoclonal↗
PubMed1976

Classification and survival rate of patients with serous cystadenocarcinoma of the ovaries.

The comparative evaluation of two stage classifications including USSR Ministry of Health stage classification and TNM system was performed on the base of studies of the end results of 419 patients with serous cystadenocarcinoma of the ovaries. It has been established that TNM system is of a greater importance in establishing more accurate prognosis than the stage classification of the Ministry of Health. In TNM system four variants of the degree of extension correspond to each stage that allows to evaluate not only the extent of the primary tumor that also of the metastatic spread. The achieved results point to the superiority of the TNM system and serve as a base for transition to the TNM system in the classification of ovarian carcinoma.

Cystadenocarcinoma↗
PubMedDate not supplied

Hürthle cell (oxyphilic) papillary thyroid carcinoma: a variant with more aggressive biologic behavior.

The latest World Health Organization International Classification defines papillary thyroid carcinoma by its "follicular cell differentiation...as well as characteristic nuclear changes". However the oxyphilic (Hürthle cell) papillary carcinoma have nuclei which generally resemble the nuclei seen in oxyphilic follicular carcinomas, and such oxyphilic papillary tumors may behave more aggressively than typical papillary cancers. To further characterize these rare tumors, we identified during a 32-year period 22 patients with oxyphilic papillary cancer and compared them with 1,084 patients with typical papillary cancers and 57 patients with oxyphilic follicular cancers treated by the Mayo surgical group during the same time period. Although typical papillary and oxyphilic papillary cancers were comparable with regards to patient age, tumor size and extent, TNM stage, and prognostic score (AGES), there were significant differences. Compared to typical papillary tumors, oxyphilic papillary cancers had fewer neck nodal metastases at primary diagnosis (5% vs 40%, p less than 0.0001), were more often DNA non-diploid (71% vs 21%, p less than 0.001), and after 10 postoperative years had higher rates of both tumor recurrence (28% vs 11%, p less than 0.0001) and cause-specific mortality (1.7% vs 4%, p less than 0.0005). In these four important respects the oxyphilic papillary cancers more resembled the oxyphilic follicular cancers. For oxyphilic follicular cancers, the frequency of initial neck nodal metastases was 7% (cf 5%); 83% of the oxyphilic follicular tumors were non-diploid (cf 71%), and at 10 years postoperatively the tumor recurrence and cause-specific mortality rates were 28% and 18%, insignificantly different from 28% and 17% seen with the oxyphilic papillary cancers.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1996

Pyoderma gangrenosum: classification and management.

Pyoderma gangrenosum (PG) has four distinctive clinical and histologic variants. Some have morphologic and histologic overlapping features with other reactive neutrophilic skin conditions. PG often occurs in association with a systemic disease, and the specific clinical features of the skin lesion may provide a clue to the associated disease. Management of PG depends on its type and severity and usually requires aggressive local and systemic treatment.

Humans↗
PubMed2025

Uveal Melanoma and the Lynch Syndrome Tumor Spectrum.

IMPORTANCE: To date, no environmental factors and few therapeutic options are known for uveal melanoma (UM), the most common malignant intraocular primary tumor in adults. Identification of new predisposition factors could lead to better monitoring and possibly improved treatments of patients with UM. OBJECTIVE: To identify new genetic alterations predisposing for UM. DESIGN, SETTING, AND PARTICIPANTS: This was a prospective cohort study conducted at Institut Curie in Paris, France, among 381 consecutive patients diagnosed with UM between July 2021 and February 2023. UM was diagnosed clinically by ophthalmologists, and a senior pathologist confirmed the diagnosis when tumor or biopsy was available. All participants received genetic counseling and consented to extended genetic testing. A panel of 122 genes predisposing to cancer were analyzed by targeted sequencing on germline DNA from these patients. MAIN OUTCOMES AND MEASURES: Frequency of pathogenic variants (PVs) in genes from a targeted panel, with classification of germline PVs done according to the American College of Medical Genetics and Genomics guidelines and the French Unicancer Genetics Group. RESULTS: A total of 79 PVs were identified in 70 participants (41 female and 29 male; mean [SD] age, 60.6 [15.3] years). Among them, 21 were found in clinically relevant genes, with an enrichment in the mismatch repair (MMR) genes, involved in Lynch syndrome, a frequent predisposition to colon and endometrial cancers. This finding suggested MMR germline PVs could also predispose to UM. One tumor was available from a participant carrying a MLH1 germline PV. The tumor exhibited a monosomy 3 with loss of the wild-type allele of MLH1, located on chromosome 3. Loss of expression of MLH1 was observed by immunohistochemistry, and MMR variant signatures SBS6, ID1, and ID2 were identified from the whole-genome sequencing of this tumor, supporting the possibility that MLH1 contributes to the oncogenesis of this UM. CONCLUSIONS AND RELEVANCE: This prospective germline study on patients with UM provided evidence supporting the notion that MMR germline alterations are enriched among patients with UM and may contribute to oncogenesis of UM, and that UM may therefore be a rare tumor manifestation of Lynch syndrome.

Humans↗
PubMed1988

Multilobated non-Hodgkin's lymphoma. A clinicopathologic entity.

Multilobated non-Hodgkin's lymphomas (NHL) have recently been recognized as an NHL variant. During a period of 10 years we observed 30 individuals with NHL in which more than 30% of the malignant cells had a characteristic multilobation. The immunologic phenotype was determined in 14 of these cases. One was of T-cell lineage, and the others exhibited B-lymphoid markers. Sixty-eight percent of the patients presented with extranodal localizations. In the clinical follow-up a complete remission was observed in 78% of patients with a mean duration of 37 months (range, 5 to 120 months). The actuarial survival after 5 years was 45%. From these data we conclude that multilobated NHL are comparable to diffuse, large cleaved-cell NHL of an intermediate grade malignancy according to the Working Formulation or are comparable to the diffuse centrocytic-centroblastic NHL according to the Kiel classification. The neoplastic cells are to be considered as variants of follicle center cells, but the clinicopathologic correlation indicates that multilobated NHL represent a distinct nosologic entity.

Adolescent↗
PubMed1989

[The genetics of rheumatic diseases: genetic basis of the classification of multifactorial diseases].

Examination of the pattern of hereditary predisposition allows a more precise determination of pathogenetic relationships between individual clinical forms and variants of multifactorial diseases (MFD), as well as assessment of the possibilities and approaches to a genetic classification to be made. The construction of genetic classifications is based on the identification of differences in the type of inheritance, the study of the progeny in families where both parents have the same or different forms of the disease, the results of the marker adhesion test, and the genetic correlation coefficients. The study has made use of some clinical forms of rheumatic diseases, whose relationships are a subject of controversy among the clinicians, as splitting phenotypes. Segregation analysis of the selected clinical forms of rheumatic diseases and genetic correlation coefficients obtained within the framework of a quasi-continuous model provide no indication that these forms can be isolated as independent nosologic entities. Possible phenotype splitting into individual subtypes and the potentialities of a marker approach to the construction of genetic MFD classifications are demonstrated, with rheumatoid arthritis associated with HLA antigen Dr 4 taken as an example.

Classification↗
PubMed1994

Withdrawal akathisia: case reports and a proposed classification of chronic akathisia.

Two patients with akathisia developing only after neuroleptic dosage reduction or withdrawal are described. The literature dealing with tardive or chronic akathisia is reviewed with an emphasis on the existence of variants including the occurrence of symptoms upon withdrawal of the causative drug. A classification of tardive or chronic akathisia syndrome is proposed.

Adolescent↗