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At least 685 records · Page 38Linked to original sources
PubMed1995

Curative resection of a well-differentiated papillary mesothelioma of the pericardium.

A 27-year-old woman presented with fatigue and dyspnea and was found to have a 2 x 4-cm mass in the pericardium, which was resected. Histologic examination demonstrated a well-differentiated papillary mesothelioma of the pericardium. Postoperatively, she received radiation therapy and had no evidence of recurrence 28 years later. It is extremely rare for this indolent variant of mesothelioma to arise in the pericardium.

Adult↗
PubMed1977

Proliferating Brenner tumor.

Proliferating Brenner tumor is rare as there are only 17 previously reported cases. A case of proliferating Brenner tumor is presented with special emphasis on the pathologic and histologic findings. This variant of Brenner tumor is considered to be benign, as no recurrences have developed in any reported patients.

Aged↗
PubMed2001

Single coronary artery with probable origin of the anomalous right coronary artery from a left atrial recurrent branch.

A 62-year-old woman presented for evaluation of chest pain. She ruled out for myocardial infarction, and subsequent non-invasive studies were diagnostic for ischemia. On coronary angiography, she was found to have a previously undescribed variant of single coronary artery, in which the anomalous right coronary artery probably arose from a left atrial recurrent branch. In this patient, the congenital anomaly was an incidental finding, since her clinical presentation was felt to be due to moderate obstructive disease of the left anterior descending artery, in the setting of poorly controlled systemic hypertension.

Angina Pectoris↗
PubMed2006

[Syncope as a first manifestation of Prinzmetal's angina in a 49-year-old woman. A case report].

A case of a 49-year-old woman with episodes of syncopes as a first manifestation of variant angina is presented. She was admitted to cardiology ward because of recurrent angina associated with marked ST segment elevation in the inferior and anterior electrocardiographic leads. Previously she was diagnosed at a neurological ward because of nocturnal syncopes without accompanying chest pain but with associated hypotonia and bradycardia of about 36 beats/min. Coronary arteriography revealed non-significant coronary stenosis of two vessels (left and right coronary artery) and coronary spasm close to these obstructions. Therapy with calcium channel blockers as well as giving up smoking eliminated the episodes of chest pain and syncope in a twelve-month follow-up.

Angina Pectoris, Variant↗
PubMed2026

A comprehensive survey of genetic variants in neuroblastoma.

BACKGROUND: Neuroblastoma (NB) is the most common extracranial solid tumor in children and is characterized by marked clinical and molecular heterogeneity. Genomic alterations play a critical role in NB pathogenesis; however, population-specific mutational features remain insufficiently characterized, particularly among Chinese patients. METHODS: Whole-exome sequencing (WES) was performed on tumor, para-tumor, and matched peripheral blood samples from nine pathologically confirmed Chinese patients with NB. Somatic variant profiles were compared with four publicly available NB datasets from cBioPortal, published in 2012, 2013, 2015, and 2023. Mutational patterns, recurrently altered genes, and Gene Ontology (GO) enrichment were analyzed using R version 4.3.2 and clusterProfiler version 4.10.0. RESULTS: A total of 77 missense variants were identified in our cohort. Single-nucleotide polymorphisms (SNPs) represented the predominant variant type, and C > T substitutions were the most frequent nucleotide change. MAP1A variants, comprising two missense variants in one patient, and RBM33 variants, comprising two distinct variants in two patients, were detected in our cohort and, to the best of our knowledge, have not been previously reported in NB, although their frequencies were low. No MYCN amplification or variants in ALK, ATRX, or DAXX were detected. Comparative analysis with the cBioPortal datasets revealed no somatic variants universally shared across all cohorts. In addition, high-risk patients exhibited distinct mutational patterns, with enrichment of the Gene Ontology term "collagen-containing extracellular matrix." CONCLUSIONS: These findings highlight the molecular diversity of NB and suggest the presence of potential population-specific genetic features in Chinese patients. The low-frequency MAP1A and RBM33 variants identified in this cohort warrant further validation in larger, independent cohorts. Moreover, the enrichment of extracellular matrix-related pathways in high-risk NB supports further investigation of tumor-microenvironment interactions as potential therapeutic targets.

Extracellular matrix↗
PubMed1995

Random X chromosome inactivation in a female with a variant of Wiskott-Aldrich syndrome.

A 15-month-old female presented with eczema, thrombocytopenia, recurrent infections and failure to thrive. She had low serum IgM and IgG subclasses and an abnormal lymphocyte proliferative response to periodate in vitro. Molecular X chromosome inactivation analysis, using the polymorphic HUMARA DNA probe, showed that the infant has random X chromosome inactivation. We conclude that she has an atypical form of Wiskott-Aldrich syndrome which may be inherited in an autosomal recessive manner.

Cell Division↗
PubMed2004

Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis.

We investigated the hypothesis that low-penetrance mutations in genes (TNFRSF1A, MEFV and NALP3/CIAS1) associated with hereditary periodic fever syndromes (HPFs) might be risk factors for AA amyloidosis among patients with chronic inflammatory disorders, including rheumatoid arthritis (RA), juvenile idiopathic arthritis (JIA), Crohn's disease, undiagnosed recurrent fevers and HPFs themselves. Four of 67 patients with RA plus amyloidosis had MEFV variants compared with none of 34 RA patients without amyloid (P value=0.03). The E148Q variant of MEFV was present in two of the three patients with TNF receptor-associated periodic syndrome (TRAPS) complicated by amyloid in two separate multiplex TRAPS families containing 5 and 16 affected members respectively, and the single patient with Muckle-Wells syndrome who had amyloidosis was homozygous for this variant. The R92Q variant of TNFRSF1A was present in two of 61 JIA patients with amyloidosis, and none of 31 nonamyloidotic JIA patients. No HPF gene mutations were found in 130 healthy control subjects. Although allelic variants in HPFs genes are not major susceptibility factors for AA amyloidosis in chronic inflammatory disease, low-penetrance variants of MEFV and TNFRSF1A may have clinically significant proinflammatory effects.

Amino Acid Substitution↗
PubMed2001

Prostate specific antigen kinetics at tumor recurrence after radical prostatectomy do not suggest a worse disease prognosis in black men.

PURPOSE: It has been shown that black men with clinically localized prostate adenocarcinoma treated with radical prostatectomy have poorer disease-free and disease specific survival than white men with similar tumors. These findings suggest that a potentially more aggressive variant of prostate cancer exists in black men. Because prostate specific antigen (PSA) velocity at tumor recurrence is a good indicator of disease aggressiveness, we determine whether there was evidence that PSA velocity at biochemical recurrence after radical prostatectomy is faster in black men. MATERIALS AND METHODS: Our retrospective data search at 2 university centers resulted in 127 white and 37 black men with clinical stage cT1 to 2 prostate adenocarcinoma who underwent radical prostatectomy between 1990 and 1994 and had evidence of biochemical recurrence (PSA greater than 0.2 ng./ml.) on followup available for analysis. No neoadjuvant or adjuvant treatments were given before or after radical prostatectomy, and all PSA relapses and subsequent treatments were recorded. PSA velocity modeling was performed in patients before any form of treatment for PSA failure. Preoperative PSA, Gleason score and pathological stage were also included in the model to assess the impact on PSA velocity after recurrence. RESULTS: Our data suggested that PSA velocity at tumor recurrence was related to preoperative PSA on a continuous scale (p = 0.063). However, in our analysis there was little evidence that race had any effect on PSA velocity at tumor recurrence in our patient cohort (p = 0.58). Likewise, little difference in PSA velocity was seen in regard to Gleason score (p = 0.89) or pathological stage (p = 0.23) in these patients. With data on 37 black men available for analysis it was likely that only large or extreme trends could be detected. Results could be used to estimate required sample sizes for assessment of less extreme trends. CONCLUSIONS: Our data on tumor growth rate at recurrence, as reflected by PSA velocity kinetics, do not support the hypothesis that prostate tumors in black men are necessarily more aggressive due to enhanced growth. Further studies comparing the molecular and biological differences between prostate cancers in black and white males are needed to clarify reasons for the apparent differences in initial presentation, as compared to that at tumor recurrence in these 2 groups.

Adenocarcinoma↗
PubMedDate not supplied

Accounting for covariate measurement error in a Cox model analysis of recurrence of depression.

When a covariate measured with error is used as a predictor in a survival analysis using the Cox model, the parameter estimate is usually biased. In clinical research, covariates measured without error such as treatment procedure or sex are often used in conjunction with a covariate measured with error. In a randomized clinical trial of two types of treatments, we account for the measurement error in the covariate, log-transformed total rapid eye movement (REM) activity counts, in a Cox model analysis of the time to recurrence of major depression in an elderly population. Regression calibration and two variants of a likelihood-based approach are used to account for measurement error. The likelihood-based approach is extended to account for the correlation between replicate measures of the covariate. Using the replicate data decreases the standard error of the parameter estimate for log(total REM) counts while maintaining the bias reduction of the estimate. We conclude that covariate measurement error and the correlation between replicates can affect results in a Cox model analysis and should be accounted for. In the depression data, these methods render comparable results that have less bias than the results when measurement error is ignored.

Aged↗
PubMed1997

Hybrid central giant cell granuloma and central odontogenic fibroma-like lesions of the jaws.

Ten lesions from eight cases are presented of a rare intra-osseous jaw lesion with the combined histological features of giant cell granuloma and central odontogenic fibroma. Lesions arose over a wide age range and presented as monolocular or multilocular radiolucencies with cortical expansion and, in one case, perforation. Two lesions recurred after curettage, one being eradicated by a second curettage and one by conservative excision. Histologically, zones of typical giant cell granuloma lay in a fibrous stroma containing islands, strands and clusters of epithelial cells. Islands often contained duct-like spaces or hyaline basement membrane globules. Trabeculae of osteoid were present in five lesions. Recurrent lesions showed features identical to the initial lesion, including recurrence of the prominent epithelial component. These features cannot be conclusively ascribed to a variant of either giant cell granuloma, central odontogenic fibroma or aneurysmal bone cyst, but the clinical features are slightly more suggestive of giant cell granuloma. Attention is drawn to the characteristic and potentially confusing histological appearances. The presence of giant cell granuloma-like areas in central odontogenic fibroma-like lesions is associated with an increased risk of recurrence following curettage.

Adolescent↗
PubMed1996

Anatomic variants of the spermatic vein: importance for percutaneous sclerotherapy of idiopathic varicocele.

PURPOSE: To evaluate percutaneous sclerotherapy of idiopathic varicocele in left internal spermatic vein variants. MATERIALS AND METHODS: The left spermatic vein was embolized with a liquid sclerosing agent in 386 patients (mean age, 29.5 years) with idiopathic varicocele. Success and complication rates were assessed and correlated with spermatic vein variant. Doppler ultrasound was performed 3 and 6 months after therapy in 263 patients. RESULTS: The success rate was 93.8% (n = 362). Perforation of the vein was the most common complication (n = 24). The recurrence rate was 3.8% (10 of 263 patients). Success and complication rates were associated with spermatic vein variant. Type IVb (intact valve of the main trunk, insufficient collateral vessels; n = 73) was of special importance: 67% (16 of 24) of all perforations occurred and 54% (13 of 24) of all unsuccessful interventional procedures were performed in patients with this variant. CONCLUSION: Sclerotherapy is a safe and effective alternative treatment of idiopathic varicocele. It can be performed on an outpatient basis. Success depends on the anatomic variant.

Adult↗
PubMed1998

Extra-articular pigmented villonodular synovitis of the temporomandibular joint.

Pigmented villonodular synovitis, a benign but locally destructive fibrohistiocytic proliferative lesion involving tendon sheaths, bursae and diarthrodial joints, is distinctly rare in the temporomandibular joint. We report one such case occurring in a 42-year-old housewife who presented with a progressively enlarging right zygomatic mass for six months. On exploration, an orange-brown firm mass, 5 x 3 x 2 cm, was seen adherent to the lateral aspect of the capsule of the right temporomandibular joint, and eroding into the inferior aspect of the right temporal bone and part of the mandibular condyle. The mass was completely excised. Pathological examination showed features typical of those of pigmented villonodular synovitis and the lesion was entirely extra-articular in location. The patient remained well with no evidence of local recurrence two years after operation. Review of the literature and careful analysis of the clinicopathological features showed that the vast majority of the reported cases of pigmented villonodular synovitis of the temporomandibular joint belonged to the extra-articular variant, which is associated with a more aggressive local infiltrative behaviour and higher rate of local recurrence than the localized type. The recommended treatment for this condition is therefore wide local excision, aiming to remove the lesion as completely as possible without producing severe disability for the patient.

Adult↗
PubMed2001

New developments in the pathology of skull base tumors.

As an anatomical interface between various tissues, the skull base harbors an exceptionally broad variety of neoplasms, some of which pose a major challenge for surgical pathology. The characterization of distinct immunohistochemical expression profiles and the identification of molecular genetic alterations associated with different tumor entities have significantly advanced this field. The new World Health Organization (WHO) classification of tumors of the nervous system lists 15 histopathological variants of meningioma. Of clinical importance are those entities that carry an increased risk of recurrence and a poor prognosis, i.e., the atypical meningioma (WHO grade II), clear-cell meningioma (WHO grade II), chordoid meningioma (WHO grade II), rhabdoid meningioma (WHO grade III), papillary meningioma (WHO grade III), and anaplastic meningioma (WHO grade III). Diagnostic criteria for atypical and anaplastic meningioma variants have now been stringently defined. The differential diagnosis of meningiomas includes hemangiopericytoma, hemangioblastoma, solitary fibrous tumor, sarcomas, and chordoid neoplasms. Recent data highlight the importance of distinguishing chordoma and chondrosarcoma of the skull base since chondrosarcomas show a significantly better clinical outcome. Among the less common, aggressive tumor entities in this anatomical region, infiltrating pituitary adenoma/pituitary carcinoma, superficial malignant gliomas, rhabdomyosarcoma, olfactory neuroblastoma, various sarcomas, and malignant lymphoma must be considered. Profiles of molecular genetic alterations have been established for several of these neoplasms and may facilitate the differential diagnosis. This review summarizes recent developments in the histopathological characterization, classification, and molecular pathology of neoplasms arising at the skull base.

Biomarkers, Tumor↗
PubMed1978

[Differential diagnosis of cancer recurrence and cicatrical stricture of esophageal anastomosis].

A careful analysis was made of the causes, terms of occurrence and course of cancer recurrence in the area of gastrointestinal and gastroesophageal anastomoses after 498 gastrectomies, resections of the cardia and esophagus for cancer. The possibility of the differential diagnosis between the recurrence and cicatricial strictures of esophageal anastomoses is shown. Based on the clinico-roentgenological data etiopathogenetically 3 variants of cicatricial strictures were singled out: a) due to technical errors, inadequate anastomotic sutures and fistulas; b) due to grave anastomositis, and c) due to reflux-esophagitis. Among cancer recurrences at the site of esophageal anastomosis three forms were differentiated, depending on the origin of recurrence and a form of tumor growth: exophitic, endophitic and paraesophageal recurrence. Special attention is given to an early recurrence and the development of it against the background of pre-existing cicatricial stricture of the anastomosis.

Adult↗
PubMed1990

Pathologic delineation of the papillonodular type of cystic partially differentiated nephroblastoma. A review of 11 cases.

Eleven cases of a previously unrecognized papillonodular variant of cystic partially differentiated nephroblastoma (CPDN) are described. This type of CPDN has all the features of the conventional type of CPDN; however, in addition, there are grossly demonstrable papillonodular projections extending from the septa into the cyst lumina. The septa do not show any expansile tumor masses. Like most cases of the conventional type, this new type of CPDN was usually diagnosed in infants. Nephrectomy (total in 10 and partial in 1) was done in these cases. Additional chemotherapy with or without radiation therapy was given in seven cases. No recurrence was noted during the period extending from 21 months to 8 years in the eight cases in which follow-up data are available. Nephrectomy with regular follow-up visits for possible recurrence may be the management of choice. Pathologists should be aware of this variant of CPDN so that overtreatment can be avoided. The revised criteria for CPDN can be summarized as follows: (1) The discrete entirely cystic tumor contains luminal papillonodules in some cases. (2) Septa and the papillonodules, when present, are the only solid portion of the tumor and contain blastemal cells admixed with their normal and aberrant derivatives. (3) The tumor without and with papillonodules is classified as a conventional and papillonodular type of CPDN, respectively.

Adolescent↗
PubMed2004

Congenital pauci-melanotic cellular blue nevus.

Unusual or atypical melanocytic nevi can be confused with malignant melanoma. Two patients are presented here with a rare variant of melanocytic nevus. Both were men. One was 39 years old and sought medical attention after trauma of a "congenital mole". The other was 24 years old and presented with a history of a slowly growing lesion, which had been known since childhood. In both patients, the lesion occurred on the buttock. They were dermal and superficial subcutaneous nodules measuring 1.5 and 2.3 cm in greatest dimension, respectively. The tumors were composed of densely cellular fascicles of melanocytes arranged in a lobulated growth pattern. Rare nests of small epithelioid melanocytes were also seen. No melanin pigment was seen on hematoxylin and eosin-stained sections. Focal minimal pigment was noted by Fontana-Masson stain in one case. Involvement of numerous peripheral nerve trunks by fusiform melanocytes was a prominent feature. Rare mitotic figures were seen in melanocytes [1-2 mitoses per 50 high-power fields (HPF)]. The MIB-1 labeling index was low (less than 5% of the lesional cell population was immunopositive). Both tumors were excised with negative surgical margins. One patient underwent sentinel lymph node biopsy because there was controversy regarding the biologic potential of the lesion. No melanocytic tumor deposits were found in the lymph nodes. On clinical follow up of 11 years and 18 months after complete excision, both patients are alive and well with no evidence of recurrence. We regard these lesions as congenital monophasic and pauci-melanotic variants of cellular blue nevus. The nevi are presented here to enhance our knowledge of the morphologic spectrum of melanocytic tumors and to help avoid confusion with malignant melanoma.

Adult↗
PubMed1989

Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system.

Chronic granulomatous disease, a syndrome of recurrent infections and failure of oxidative microbicidal activity in phagocytes, results from defects in the gene for one of several components of an oxidase system that can undergo activation. To determine the relative prevalence of certain of the genetic variants of this disorder, we used immunoblotting to detect two specific neutrophil cytosolic proteins of 47 and 67 kd recently shown to be required for oxidase activation. Chronic granulomatous disease is usually an X-linked disorder associated with the absence of membrane cytochrome b558. Of our 94 patients with chronic granulomatous disease, however, 36 had a phenotype characterized by autosomal inheritance, normal membrane oxidase components (including cytochrome b558), and functionally defective cytosolic activity in a cell-free oxidase system. We studied 25 of these 36 patients and found that 22 lacked the 47-kd cytosolic protein, and the remaining 3 were missing the 67-kd component. Patients with chronic granulomatous disease whose functional defect was localized to the neutrophil membrane (classic X-linked cytochrome b-negative type and two other rare variants) had normal amounts of both cytosolic components. We estimate that approximately 33 percent of all patients with chronic granulomatous disease are missing the 47-kd cytosolic oxidase component and about 5 percent of patients are missing the 67-kd component. Chronic granulomatous disease caused by a defect in any cytosolic factors other than the 47-kd and 67-kd proteins, if it exists, is apparently rare.

Adolescent↗
PubMed1976

Sickle cell--betao thalassemia variant with high hemoglobin F and mild clinical course.

A 70 year old Black woman had chronic hemolytic anemia without recurrent painful crises. Hemoglobin pattern by electrophoresis was hemoglobin S (69 to 71 per cent), hemoglobin A2 (4.6 per cent) and hemoglobin F (24 to 27 per cent). No hemoglobin A was detected, and the hemoglobin F was distributed heterogeneously in the red cells. Reticulocyte alpha/nonalpha globin chain synthetic ratios were 1.44 to 1.62. Thus, the patient had a high hemoglobin F variant of S-beta zero (betao) thalassemia which has not been described previously. Her clinical course has been mild in comparison with S-betao thalassemia patients who do not have extremely elevated hemoglobin F levels.

Aged↗