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PubMed2001

[A closed variant of staged tympanoplasty with mastoidectomy in patients with chronic purulent otitis media].

127 case records were analysed retrospectively. All the patients had otitis media purulenta chronica and had undergone tympanoplasty (a closed variant). Regular revision of the trepanation cavity was performed in patients with cholesteatoma. Residual cholesteatoma was detected in 5 of 76 patients with cholesteatoma before the first operation, recurrent cholesteatoma occurred in 2 patients. Normal position of the neotympanic membrane and recovery of normal anatomy of the external acoustic meatus were achieved in 116 (91.3%) operated patients. Preservation or improvement of hearing were observed in all the patients. Bone-air gap under 30 dB was obtained in 79%. Thus, the proposed variant of closed staged tympanoplasty is effective for sanation of the infection focus with subsequent hearing improvement.

Adult↗
PubMed1991

Structure of the HLA-A*0204 antigen, found in South American Indians. Spatial clustering of HLA-A2 subtype polymorphism.

The primary structure of the HLA-A2 subtype A*0204 (isoelectric focusing variant A2.4) has been determined. cDNA encoding this subtype was amplified by the polymerase chain reaction. Four independent full-length cDNA clones encoding A*0204 were analyzed to obtain a consensus sequence for this subtype. A*0204 differs from A*0201 by a single nucleotide change of G to T through the coding regions, resulting in an Arg to Met change at position 97. This substitution accounts for the isoelectric focusing pattern of the subtype. The same change occurs in other HLA-A specificities in association with other changes in its vicinity. The absence of additional substitutions in A*0204 suggests that it could have arisen from A*0201 by point mutation, and that recurrent mutations may take place during HLA diversification. The spatial location of this change implies that A*0204 must be a functional variant. Comparison of its sequence with other HLA-A2 subtypes reveals that much of the HLA-A2 subtype polymorphism is generated by variations in four neighboring positions, including position 97, which are located in two adjacent beta-strands on the floor of the peptide binding site of the molecule.

Amino Acid Sequence↗
PubMed2003

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease.

Mutations in complement factor H (HF1) gene have been reported in non-Shiga toxin-associated and diarrhoea-negative haemolytic uraemic syndrome (D-HUS). We analysed the complete HF1 in 101 patients with HUS, in 32 with thrombotic thrombocytopenic purpura (TTP) and in 106 controls to evaluate the frequency of HF1 mutations, the clinical outcome in mutation and non-mutation carriers and the role of HF1 polymorphisms in the predisposition to HUS. We found 17 HF1 mutations (16 heterozygous, one homozygous) in 33 HUS patients. Thirteen mutations were located in exons XXII and XXIII. No TTP patient carried HF1 mutations. The disease manifested earlier and the mortality rate was higher in mutation carriers than in non-carriers. Kidney transplants invariably failed for disease recurrences in patients with HF1 mutations, while in non-mutated patients half of the grafts were functioning after 1 year. Three HF1 polymorphic variants were strongly associated with D-HUS: -257T (promoter region), 2089G (exonXIV, silent) and 2881T (963Asp, SCR16). The association was stronger in patients without HF1 mutations. Two or three disease-associated variants led to a higher risk of HUS than a single one. Analysis of available relatives of mutated patients revealed a penetrance of 50%. In 5/9 families the proband inherited the mutation from one parent and two disease-associated variants from the other, while unaffected carriers inherited the protective variants. In conclusion HF1 mutations are frequent in patients with D-HUS (24%). Common polymorphisms of HF1 may contribute to D-HUS manifestation in subjects with and without HF1 mutations.

Amino Acid Sequence↗
PubMed1976

Malignant oncocytoma of the parotid gland. A light and electron microscopic study.

A case malignant oncocytoma of the parotid gland occurring in a 91-year-old man is reported. The tumor recurred 10-months and 2 1/2 years after the primary excision. Both primary and recurrent tumors exhibited an infiltrative pattern. The histologic appearance of the original tumor and the recurrent lesion were similar, but there were areas of increased mitotic activity and pleomorphism in the latter. Ultrastructural examination of the recurrent tumor revealed that the cytoplasm was packed with mitochondria. The fine structure was, for the most part, similar to the benign variant reported previously. In the present tumor, however, intercellular spaces were more prominent and a basal lamina was not observed. The malignant oncocytoma occurs both in major and minor salivary glands. The tumor mostly affects the older age group, but the biologic behavior cannot be evaluated fully because of the paucity of cases reported and the lack of follow-up information.

Adenoma↗
PubMed1980

Augsburg-type glucosephosphate isomerase deficiency. A new variant causing congenital nonspherocytic hemolytic anemia in a German family.

In a 1-year-old German boy a GPI deficiency was found to be the cause of a chronic nonspherocytic hemolytic anemia with recurrent hemolytic crises. Because of consanguinity of the parents, the patient is true homozygote. The investigation of the biochemical properties of the deficient enzyme revealed an altered electrophoretic behavior, pronounced thermolability, an increased affinity for G6P, an increased affinity for the competitive inhibitor 6-PG, and slightly changed pH optima for both substrates. Electrophoresis after freezing and thawing the hemolysate indicates that the genetic modification of the subunit involves the mechanism of transforming the main band into the secondary bands. The properties of the new deficient GPI indicate a new variant designated GPI Augsburg.

Anemia, Hemolytic, Congenital Nonspherocytic↗
PubMed1992

Detection of recurrent chromosome abnormalities in Ewing's sarcoma and peripheral neuroectodermal tumor cells using bivariate flow karyotyping.

Bivariate flow karyotyping can be used for the detection of recurrent chromosome abnormalities in tumor cells. For this purpose 2 cell lines originally derived from Ewing's sarcomas and 4 cell lines from peripheral neuroectodermal tumors were used. The characteristic t(11;22) was known to be present in 5 cell lines. The remaining cell line was known to have a variant t(2;11;22;21) translocation. Metaphase chromosomes were stained with the fluorescent dyes Hoechst 33258 and Chromomycin A3 and analyzed subsequently using bivariate flow cytometry. The resulting bivariate flow karyotypes of the tumor cells were normalized by a standardized procedure using a computerized method and compared with a reference flow karyotype of normal chromosomes. In 5 cell lines two recurring abnormal chromosome peaks were identified at positions expected for the der(11) and der(22) chromosomes characteristic for the reciprocal t(11;22)(q24;q12). In the remaining cell line with the variant t(2;11;22;21), only the peak representing the der(22) was identifiable. It is concluded that bivariate flow karyotyping can be used for the semiautomated detection of recurrent translocations and the assessment of their variability among different tumors.

Bisbenzimidazole↗
PubMed1991

Prinzmetal angina. Multifocal ischemia, recurrent AV block, and bradycardia with patent coronary arteries responsive to verapamil.

Coronary vasospasm may result in recurrent angina pectoris and cause acute myocardial infarction. The extent to which the "sudden death syndrome" occurs is unknown. The case described herein is unique in that the clinical features, including hypotension, AV block, and ventricular arrhythmias, were similar to those seen in myocardial infarction with a poor prognosis, yet infarction was not documented. In subsequent, long-term follow-up evaluation, chest pain has been recurrent, but despite close observation, no further major cardiac complications have been documented. Long-term use of verapamil has contributed to better control of clinical symptomatology.

Angina Pectoris, Variant↗
PubMed1999

A comparison of the age of onset of bipolar I and bipolar II outpatients.

BACKGROUND: It is not clear if bipolar I and bipolar II disorders are variants of the same disorder or distinct disorders. Aim of the study was to compare age at onset and indicators of severity (recurrences, chronicity, psychosis) between bipolar I and bipolar II disorders to clarify this point. METHODS: Consecutive 45 bipolar I and 141 bipolar II outpatients were interviewed with the Structured Clinical Interview for DSM-IV. Age at onset distributions were compared with the Kolmogorov-Smirnov test. RESULTS: Age at onset distributions were not significantly different between bipolar I and bipolar II patients. Severity was significantly higher in bipolar I patients. LIMITATIONS: Age at onset may be subject to recall bias. Structured interview by a senior psychiatrist, standard criteria for onset, family members or close friends supplementing information, same data collection and ascertainment procedures may have reduced bias. CONCLUSIONS: Lack of significant difference in age at onset does not support the separation of the two disorders. Bipolar II disorder may be a less severe variant of bipolar disorder.

Adult↗
PubMed1990

[Unfavorable course of recurrent (schizoaffective) schizophrenia].

Based on clinico-catamnestic studies conducted in 50 patients with recurrent ("schizoaffective") schizophrenia 2 main types of an unfavourable disease course were distinguished: "stationary" (28 patients) and "labile-continual" (22 patients). The first variant was characterized by long and monotonous persistence of uniform affective delirious symptoms. The second variant was characterized by complete lack of any stability of the condition associated with permanent changing of polar affects and respective hallucinative delirious structures. Pronounced and reduced patterns of the disease course were distinguished in both variants. Clinical characteristics of the variants are provided, and ways by which they are formed are depicted. A number of theoretical problems, especially those concerned with the reliability of criteria for interrelations between the status and the disease course in the diagnosis and individual prognosis of the disease development are discussed.

Adult↗
PubMed1996

Papillary carcinoma of the thyroid. Tall-cell variant with extensive lymphocyte infiltration.

Thirteen cases of tall-cell variant of papillary thyroid carcinoma (PTC) showing extensive lymphocyte and plasma cell infiltration within the fibrous stalks of the papillary architecture were compared with age-, sex-, and tumor size-matched cases of ordinary tall-cell variant without extensive lymphocyte infiltration and also with cases of PTC of the conventional type. All cases of the tall-cell variant of PTC with extensive lymphocyte infiltration exhibited the histologic features of chronic thyroiditis. Dissemination of tumor cells with the thyroid was significantly less frequent than in control cases, but there was no difference between the incidences of lymph node metastasis. Immunohistochemically, the lymphocytes infiltrating the carcinoma focus were mainly CD20+, CD45+, and CD45RO+ cells, that is, basically the same as those found in foci of chronic thyroiditis. No tumor recurrence was observed during the mean follow-up period of 3 years 8 months. The results of this study suggest that the tall-cell variant of PTC with extensive lymphocyte infiltration has less aggressive characteristics and a more favorable prognosis.

Adult↗
PubMed1997

Radiofrequency catheter ablation of slow pathway in 760 patients with atrioventricular nodal reentrant tachycardia--long-term results.

BACKGROUND: Although selective radiofrequency catheter ablation of the slow atrioventricular (AV) nodal pathway has provided a curative therapy for patients with AV nodal reentrant tachycardia, information about the long-term result of radiofrequency catheter ablation in patients with different types of AV nodal reentrant tachycardia was not available. This study was to investigate the long-term effect of selective slow pathway ablation in a large group of consecutive patients with AV nodal reentrant tachycardia. METHODS: From December 1990 to June 1996, 760 consecutive patients with clinically documented AV nodal reentrant tachycardia received radiofrequency catheter ablation of antegrade and/or retrograde slow AV nodal pathway at this electrophysiologic laboratory. The data of electrophysiologic characteristics and long-term follow-up were collected. The success rate, complication rate and recurrence rate were analyzed. RESULTS: There were 669 slow-fast form AV nodal reentrant tachycardia, 27 fast-slow form AV nodal reentrant tachycardia, 13 variant form AV nodal reentrant tachycardia, and 51 multiple forms of AV nodal reentrant tachycardia. The electrophysiologic characteristics were different among these four groups. However, radiofrequency catheter ablation attained a 99% success rate in all the four groups with different types of tachycardia. There were 5 accidental injuries to AV conduction. Three of the 5 patients needed implantation of pacemakers. During the follow-up period, there were 14 (1.8%) recurrence of AV nodal reentrant tachycardia. All of the 14 patients had a successful second ablation without recurrence. CONCLUSIONS: This study demonstrated that radiofrequency catheter ablation of slow pathway was a highly effective treatment modality for patients with various types of AV nodal reentrant tachycardia. Furthermore, the incidence of complication rate and recurrence rate were low in an experienced center.

Adolescent↗
PubMed2005

Epidermal growth factor receptor gene polymorphisms predict pelvic recurrence in patients with rectal cancer treated with chemoradiation.

An association between epidermal growth factor receptor (EGFR) signaling pathway and response of cancer cells to ionizing radiation has been reported. Recently, a polymorphic variant in the EGFR gene that leads to an arginine-to-lysine substitution in the extracellular domain at codon 497 within subdomain IV of EGFR has been identified. The variant EGFR (HER-1 497K) may lead to attenuation in ligand binding, growth stimulation, tyrosine kinase activation, and induction of proto-oncogenes myc, fos, and jun. A (CA)(n) repeat polymorphism in intron 1 of the EGFR gene that alters EGFR expression in vitro and in vivo has also been described. In the current pilot study, we assessed both polymorphisms in 59 patients with locally advanced rectal cancer treated with adjuvant or neoadjuvant chemoradiation therapy using PCR-RFLP and a 5'-end [gamma-(33)P]ATP-labeled PCR protocol. We tested whether either polymorphism alone or in combination can be associated with local recurrence in the setting of chemoradiation treatment. We found that patients with HER-1 497 Arg/Arg genotype or lower number of CA repeats (both alleles <20) tended to have a higher risk of local recurrence (P = 0.24 and 0.31, respectively). Combined analysis showed the highest risk for local recurrence was seen in patients who possessed both a HER-1 497 Arg allele and <20 CA repeats (P = 0.05, log-rank test). Our data suggest that the HER-1 R497K and EGFR intron 1 (CA)(n) repeat polymorphisms may be potential indicators of radiosensitivity in patients with rectal cancer treated with chemoradiation.

Adult↗
PubMed1979

Myxoid variant of malignant fibrous histiocytoma: ultrastructural observations.

The ultrastructural findings in 4 cases of the myxoid variant of malignant fibrous histiocytoma (MFH) are described. Although this neoplasm is characterized by a high rate of local recurrence, the overall prognosis is considerably better than the usual nonmyxoid MFH. The neoplasm is composed of an admixture of round, stellate and multinucleated giant cells within a myxoid and well-vascularized stroma. Electron microscopy demonstrated four principal cell types: a primitive mesenchymal cell, spindle cells of fibroblastic and histiocytic nature, and multinucleated giant cells. These observations complement the light microscopic features but probably are insufficient to differentiate critically this entity from other myxomatous lesions of mesenchymal soft tissue such as myxoma, pseudosarcomatous fasciitis, myxoid liposarcoma. The polymorphic cellular composition lends support to the concept that the neoplasm is probably derived from a primitive multipotent mesenchymal cell capable of structural and functional modulation toward more cytodifferentiated forms.

Diagnosis, Differential↗
PubMed1984

The encapsulated papillary carcinoma of the thyroid. A morphologic subtype of the papillary thyroid carcinoma.

Of a total of 182 papillary neoplasms, 25 lesions (average size, 3.1 cm) were classified on cytologic and histologic grounds as being encapsulated carcinomas. In eight of these tumors (32.2%) cervical lymph node metastasis and/or intraglandular lymphatic spread was observed. It was not possible to separate on histologic grounds those that did metastasize from those that did not. The excellent prognosis for the encapsulated variant of papillary thyroid carcinoma was confirmed by a long follow-up period in which no evidence of recurrences or further metastasis was registered as compared with the time of initial diagnosis, whatever the mode of therapy. On the basis of these findings, the encapsulated papillary carcinoma can be regarded as an early or slowly growing form of the papillary thyroid carcinoma.

Adult↗
PubMed1994

Pediatric thyroid cancer after the Chernobyl disaster. Pathomorphologic study of 84 cases (1991-1992) from the Republic of Belarus.

BACKGROUND: During the initial period after the Chernobyl accident, large amounts of radioactive iodine were released in fallout, resulting in serious exposure to the thyroid gland in the residents of areas around the nuclear power station. Beginning in 1990, a definite increase in the incidence of thyroid cancer was noted in children of the Republic of Belarus. METHODS: Morphologic and clinical features of 84 cases of post-Chernobyl thyroid carcinoma in Belarussian children from 5 to 14 years of age are reported. The latent period for tumor development was 4-6 years, with a mean of 5.8 years. RESULTS: Papillary carcinoma was found in 83 patients and medullary carcinoma in one. Besides typical papillary carcinoma (14%), solid (34%), follicular (33%), mixed (10%), and diffuse sclerosing (9%) variants were observed. The follow-up period ranged from 8 months to 2.5 years. One patient died, local recurrence developed in 2, and cervical lymph node metastases developed in 10. To date, the incidence of local recurrence or metastatic disease after surgery was significantly higher in patients 5-8 years of age and in residents of areas nearest to the Chernobyl station. CONCLUSIONS: Post-Chernobyl pediatric thyroid carcinoma is characterized by a short latency, a higher proportion of tumors arising in young children, and an almost equal sex ratio. Microscopically, these tumors were usually aggressive, often demonstrating intraglandular tumor dissemination (92%), thyroid capsular and adjacent soft tissue invasion (89%), and cervical lymph node metastases (88%). Papillary carcinoma was diagnosed in 99% of cases, with an unusually high frequency of solid growth patterns. Morphologic changes in nonneoplastic thyroid tissue were present in 90% of the glands, and the most specific findings were vascular changes and perifollicular fibrosis.

Accidents↗
PubMed1994

Cytogenetic findings in malignant triton tumor.

Malignant triton tumor is a rare histologic variant of malignant schwannoma that shows both neural and skeletal muscle differentiation. In this study, cytogenetic analysis of a recurrent malignant triton tumor of the forearm from a 26-year-old female and a primary paraspinal malignant triton tumor from a 27-year-old female revealed complex karyotypes displaying multiple numerical and structural abnormalities. Abnormalities shared by both tumors included three copies of chromosome 22 and structural rearrangements of chromosomes 2, 7, and 21 at identical or closely located breakpoints.

Adult↗
PubMed2004

A review of thyroid cancer with intermediate differentiation.

BACKGROUND AND OBJECTIVES: Tall cell (TCV), columnar cell (CCV), insular (IC), diffuse sclerosing (DSPTC) and solid/trabecular are uncommon subtypes of thyroid cancer, which have generally been described in case reports or small series in the world literature. Due to the rarity of these thyroid cancers, their clinical behavior remains incompletely understood. The aim of this review was to pool the currently available clinical information regarding these uncommon thyroid cancers so as to gain a better understanding of their clinical aspects and natural history. METHODS: A computer-aided search of MEDLINE (1966-2001, PUBMED website) and CINAHL (1982-2001) databases was performed, as well as a review of the reference section of each primary study was done. All cases of TCV, CCV, DSPTC, solid/trabecular, and IC described in the English medical literature were identified. For the subtypes DSPTC, TCV, and IC, clinical data from the published case series were combined in a weighted analysis. Weighting was based on the number of cases per series. For the CCV and the solid/trabecular variant, due to the small number of cases, raw figures for the clinical features were obtained. RESULTS: DSPTC (n = 65) appeared to have a tendency for intra-thyroidal extension (40%) and a high propensity for nodal metastates (68%). The mean overall tumor related mortality was similar to well differentiated thyroid cancer (WDTC) at only 2% at 8 years follow-up. The solid/trabecular variant was seen in 37% of the radiation induced thyroid tumors of the Chernobyl accident. It had a high propensity for extrathyroidal extension, and cervical lymph node metastases were found in up to 83% of patients. Unlike WDTC, TCV (n = 209) was a more aggressive tumor, associated with distant metastases in 22% of cases and had a mean tumor related mortality of 16%. The histological diagnosis of TCV was a poor prognostic factor regardless of patient age or tumor size. The CCV (n = 41) had a high overall mortality rate of 32%. When encapsulated, however, CCV had an excellent prognosis similar to that found in WDTC. In contrast, CCV tumors that were not encapsulated had extrathyroidal spread in 67% and had distant metastases in 87% of patients. The variant of IC (n = 213) appeared to be an aggressive subtype of thyroid cancer. The mean loco-regional recurrence and/or distant metastases rate was 64% and tumor related mortality was high at 32%. CONCLUSIONS: DSPTC, TCV, CCV, and IC are thyroid cancer subtypes, which have a biological aggressiveness, which appear to be intermediate between that of WDTC and poorly differentiated anaplastic thyroid cancer. J. Surg. Oncol. 2004;86:44-54.

Humans↗
PubMed1997

Tall-cell variant of papillary thyroid cancer: disregarded entity?

The tall-cell variant of papillary thyroid carcinoma (TCV) has been described as an aggressive tumor with a significantly higher incidence of recurrence and mortality than other forms of papillary carcinoma. In some series it has accounted for up to 10%, whereas in other series it has not been reported at all, indicating that there are difficulties identifying it. In a series of 162 consecutively treated patients with papillary thyroid carcinoma treated by total thyroidectomy according to a highly standardized procedure, all specimens were specifically examined by an international group of pathologists to establish the occurrence of TCV. All patients with TCV were studied with regard to local aggressiveness, the presence of metastases, iodine uptake, DNA pattern, thyroglobulin production, treatment (surgical and adjuvant), and outcome (follow-up 3-17 years, median 10 years). At primary histopathologic evaluation by the local pathologist, three patients were recorded as having TCV. At special evaluation by the expert group, eight more cases were found, giving a total of 11 patients in this series (7%). Five of them had extracapsular growth, and four were multifocal. Three had metastases at the time of admission. Seven tumors were diploid, one tetraploid, and three aneuploid. Of the three patients with primary distant metastases two died (8 and 24 months after operation), and one is still alive after 10 years. Four other patients developed recurrences, one of whom died from cardiac failure, but the others have so far been treated successfully. Two of these recurrences had no radioiodine uptake, and one had no rise in thyroglobulin concentrations; the other two had rising values that correlated with recurrence. The other four patients are alive without recurrence. It was concluded that identification of the TCV requires examination by an experienced pathologist. Moreover, it may have a higher incidence than is generally recognized. No reliable criteria for prognostic classification were identified. The results suggest that early identification and active treatment can lead to an outcome more favorable than has previously been described.

Aged↗