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At least 361 records · Page 20Linked to original sources

Genomic imbalances including amplification of the tyrosine kinase gene JAK2 in CD30+ Hodgkin cells.

Comparative genomic hybridization was applied for a comprehensive screening of frequently occurring net gains and losses of chromosomal subregions in small populations of CD30+ Hodgkin cells and their morphological variants. In 12 Hodgkin's lymphomas, recurrent gains were detected on chromosomal arms 2p, 9p, and 12q (in six, four, and five tumors, respectively) and distinct high-level amplifications were identified on chromosomal bands 4p16, 4q23-q24, and 9p23-p24. In Hodgkin cells with 9p23-p24 amplification, fluorescence in situ hybridization revealed an increased copy number of chromosomal sequences spanning the tyrosine kinase gene JAK2. Several of the imbalances described, in particular a gain in chromosomal arm 9p that includes JAK2 amplification, are similar to the genomic changes detected in primary mediastinal B-cell lymphoma.

Adolescent↗

[Peritoneal multicystic mesothelioma: unusual case of localization in the left lobe of the liver].

Peritoneal multicystic mesothelioma is a very rare clinical condition. This neoplastic variant has a high incidence of recurrence after surgical resection. It usually occurs in middle-aged women with a previous history of gynaecological surgery and presents with the symptoms of an abdominal or pelvic mass. The case reported here is that of a 58-year-old woman, characterised first by a left liver-lobe tumour and then by a subsequent episode of emission of cystic matter from an abdominal fistula. The relevant literature is reviewed and the clinical aspects and treatment of this disease are discussed.

Female↗

The medical uses and side effects of etanercept with a focus on cutaneous disease.

Etanercept is a dimeric fusion protein that has been approved for the treatment of rheumatoid arthritis, juvenile rheumatoid arthritis, psoriatic arthritis, active ankylosing spondylitis and moderate to severe plaque psoriasis. It has been reported to be useful in other variants of psoriasis, Still's disease, recurrent aphthous ulcers, and a variety of rare cutaneous conditions. Its cutaneous side effects are rare and include injection site reactions, cutaneous lupus, and cutaneous vasculitis. Its systemic side effects are also rare and include induction or worsening of infections, lupus, multiple sclerosis, and congestive heart failure. Linkage to an increased risk of lymphoma is unclear. In short, etanercept is a promising medication with substantial benefits and use will probably increase in the future. This review surveys off-label uses and side effects of etanercept.

Anti-Inflammatory Agents, Non-Steroidal↗

[Remote results of the surgical treatment of peptic post-gastrectomy and non-healing ulcers and recurrent post-vagotomy ulcers].

Operations were performed on 130 patients with various forms of recurrent ulcers. An analysis of late results (up to 8 years) in 76 patients has shown that stable healing was achieved in most of the patients treated by all reconstructive and correcting methods. The most justified intervention for peptic postgastroresectional ulcers is thought to be resection which may be accompanied by truncal vagotomy. Antral resection of the stomach is the method of choice in peptic, recurrent and long-standing ulcers after different variants of vagotomy.

Duodenal Ulcer↗

[Long-term prognostic effect of treatment in chronic non-ulcerative colitis and dyskinesia of the large intestine].

The efficiency of stepwise therapeutic courses was assessed on the basis of clinical data, and histomorphologic and histochemical findings in large-intestinal mucosa of patients with chronic non-ulcerative colitis and colodyskinesia, followed up for 6 to 15 years. The duration of remissions in chronic colitis and colodyskinesia depends on the diet and regular meal-taking, adequate long-term combined treatment taking into account histomorphologic and morphometric parameters of large-intestinal inflammation, the extent of disturbance in intestinal microbiocenosis, and the clinical pattern of functional intestinal disorders. Recurrent acute attacks of colodyskinesia (its hyperkinetic variant, in particular) may result in inflammation of colonic mucosa.

Chronic Disease↗

Recurrent oral erythema multiforme. Clinical experience with 11 patients.

Recurrent oral erythema multiforme is a distinct, but less-well-recognized variant of the erythema multiforme group of diseases. It is characterized by recurrent blistering of the mouth, periodic recurrences, prolonged duration, and considerable morbidity. The cause is unknown; however, a number of precipitating factors have been suggested. Patients with severe involvement usually require orally administered corticosteroids for adequate control.

Adolescent↗

[Severe and complicated forms of chronic pancreatitis].

A total of 437 patients with chronic pancreatitis (CP) were examined. The authors detected interstitial or acute, parenchymal or recurrent, hyperplastic or pseudotumorous, and cystic variants in 91 (20.8%), 218 (49.9%), 78 (17.8%), 22 (5.1%), and 28 (6.4%) patients, respectively, Severe types due to the permanent pain syndrome, substantial weight loss and overall intoxication phenomena were seen in 21.5%. Complications of chronic pancreatitis were revealed in 32.3%. Pyoseptic complications (11.2%), anicteric cholestasis (8.5%), subhepatic portal hypertension (8.0%), cholestatic jaundice (7.8%) were most common. Immunodeficiency states developed with long-term treatment of CP. A small portion (0.9%) of patients with CP developed pancreatic carcinoma. 3% of patients had deaths directly due to the active course of the disease whose causes were pyoseptic processes, pancreatic carcinoma and profuse hemorrhages from exulcerations of the duodenal postbulbar part.

Adult↗

A cytogenetic survey of five breeds of cattle from Brazil.

One-hundred-and-thirty-nine animals from five breeds of cattle were studied cytogenetically. Three types of karyotype abnormalities were detected, two of them structural, t(1; 29) and ins(16), and one numerical (60,XY/61,XY + F). The first two, found in the Charolais race, presented familial recurrences; the last one, observed in the Norman breed, was sporadic. Pedigree studies showed that ins(16), an aberration not previously described in cattle, segregated in the ratio of 5 carriers to 10 normals. t(1; 29) occurred in mother and daughter. A variant of constitutive heterochromatin also presented familial recurrence in the Charolais breed.

Animals↗

Dietary factors and biomarkers involved in the methylenetetrahydrofolate reductase genotype-colorectal adenoma pathway.

BACKGROUND & AIMS: Methylenetetrahydrofolate reductase (MTHFR) is involved in intracellular folate homeostasis and metabolism. We assessed 2 polymorphisms in the MTHFR gene (C677T and A1298C) in relation to colorectal adenoma recurrence and conducted analyses to investigate their joint effects with plasma and dietary markers of folate status. METHODS: We prospectively analyzed data from 1598 individuals genotyped for the C677T polymorphism and 1583 with data on A1298C. RESULTS: Among nonusers of multivitamin supplements, compared with wild-type carriage, higher odds of recurrence were observed for those with the 677 TT variant (odds ratio [OR], 1.66; 95% confidence interval [CI], 1.04-2.63) and a nonsignificant increase was observed among those with the 1298 CC variant (OR, 1.50; 95% CI, 0.93-2.40). Diplotype analyses among nonusers of multivitamins showed that individuals who carry the MTHFR 677TT_1298AA or 677CC_1298CC combination were significantly more likely to have a recurrence compared with those with the double wild-type (OR, 2.05 for TT_AA and 1.85 for CC_CC). Higher odds of recurrence were observed among participants with low folate intake or plasma folate and the 677 TT or 1298 CC variants compared with those with lower levels and the wild-type or heterozygous genotypes. Stronger associations were shown for the combination of high homocysteine and the 677 TT variant (OR, 2.29; 95% CI, 1.00-5.26) but not the 1298 CC variant (OR, 1.09; 95% CI, 0.39-3.01). CONCLUSIONS: We propose that the effect of the MTHFR genotypes on increasing risk of adenoma recurrence in the presence of a low folate status is through their increase in homocysteine concentrations, which in turn could result in DNA hypomethylation via pathways involving S-adenosylhomocysteine.

Adenoma↗

A uterine tumor that resembled ovarian sex-cord tumors: a low-grade sarcoma.

A case is presented of a recurrent uterine tumor best classified as a variant of an endometrial stromal tumor of low-grade malignancy with predominant ovarian sex cord-like differentiation. This patient is the youngest to be reported with such a lesion fulfilling the group II criteria of Clement and Scully, and the first to develop recurrence.

Adult↗

Ameloblastoma: biological profile of 3677 cases.

Available literature on ameloblastoma of the jaw was reviewed, including publications from 1960 to 1993, and compared to the latest larger review, published by Small and Waldron in 1955. The average age of patients with ameloblastoma is 36 years. In developing countries ameloblastomas occur in younger patients. Men and women are equally affected. Women are 4 years younger than men when ameloblastomas first occur, and the tumours appear to be larger in females. Dominant clinical symptoms such as painless swelling and slow growth are non-characteristic. The ratio of ameloblastoma of the mandible to maxilla is 5 to 1. Ameloblastomas of the mandible occur 12 years earlier than those of the maxilla. Ameloblastomas occur most frequently in the molar region of the mandible. In Blacks, ameloblastomas occur more frequently in the anterior region of the jaws. Radiologically, 50% of ameloblastomas appear as multilocular radiolucent lesions with sharp delineation. Histologically, one-third are plexiform, one-third follicular; other variants such as acanthomatous ameloblastoma occur in older patients. Two percent of ameloblastomas are peripheral tumours. Unicystic ameloblastomas occurring in younger patients have been found in 6%. Detailed data on 345 patients with ameloblastoma were evaluated for clarification of therapeutic approaches. Chemotherapy and radiation seem to be contraindicated. Ameloblastomas of the maxilla should be treated as radically as possible, ameloblastomas of the mandible should also be treated radically. However, ameloblastomas which radiologically appear as unilocular lesions may be treated conservatively (enucleation, curettage), whenever all areas of the cystic lumen are controllable intraoperatively. Unicystic ameloblastomas occurring in patients 15 years younger than those with multisystic ameloblastoma may be treated conservatively except in cases with invasion of epithelium into the cyst wall. Different recurrence rates have been found for histological variants of the ameloblastoma. Follicular ameloblastomas appear to recur more often than the plexiform type. Unicystic ameloblastomas reveal lower recurrence rates than "non-unicystic" ameloblastomas. The peripheral type of ameloblastoma may be excised, since conservative therapy results in low recurrence rates. Postoperative follow-up is most important in the therapy of ameloblastoma, because more than 50% of all recurrences occur within 5 years postoperatively.

Adolescent↗

[Morphofunctional state of the gastric parietal and gastrin-producing cells in chronic gastroduodenitis in children].

Morphofunctional studies of parietal and gastrin-producing cells in 30 children with chronic gastroduodenitis with (10 patients) or without (20) recurrent erosions in the pyloroduodenal region showed functional inhibition of G cells and hyperplasia of P cells in the antral part of the stomach in children with recurring erosions. In these children, the increased surface area and density of parietal cells, the increased perimeters of secretory canaliculi's membranes, and the consequent elevated gastric juice acidity were probably due to P-cell hyperplasia in the gastric antrum and G-cell hyperplasia in the duodenal bulb. In children, gastroduodenitis with recurrent erosions should be considered a pathogenetic variant of duodenal ulcerous disease.

Adolescent↗

Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology.

ARX gene mutations have been known as important causes of developmental and neurological disorders and are responsible for a large spectrum of abnormal phenotypes, includeing syndromic as well as nonsyndromic forms of mental retardation. We have screened the entire coding and flanking intronic sequences of ARX gene in 143 mentally impaired males in order to investigate the contribution of ARX mutations to mental retardation in the population of Rio de Janeiro, Brazil. Three sequence variants were identified: one patient had the most recurrent mutation already observed in ARX gene, the c.428_451dup(24 bp), two patients presented the c.1347C>T (p.G449G) in exon 4, and one patient had the intronic variant c.1074-3T>C. Although two of these alterations were considered polymorphisms, the known pathogenic variant c.428_451dup(24 bp) was found at a high rate (4.8%) among X-linked mental retardation (XLMR) families. Our results, the first in Latin America, reinforce the idea that ARX mutations are relevant to mental retardation and are indicative that molecular screening of exon 2 should be considered in males with mental retardation of unknown etiology, associated or not with neurological manifestations, especially in familial cases.

Brazil↗

The significance of "positive" margins in surgically resected epidermoid carcinomas.

Sixty-two patients with epidermoid carcinomas of the head and neck (excluding glottic larynx and skin), in whom surgical-resection margins were classified as "positive", were studied to determine the incidence of local recurrence, the subsequent clinical course, and survival. The recurrence rate in this group was compared with that of patients who had "negative" margins. Four histologic findings are classified as positive margins: (1) margin closeness (tumor within 0.5 cm), (2) premalignant change in the margin, (3) in-situ cancer in the margin, and (4) invasive microscopic cancer at the margin. Patients with these variants showed a significant increase in local recurrence and in mortality when compared to those with negative margins. A review of the literature is presented, and recommendations are made for this clinical setting.

Adult↗

Recurrent obstructive jaundice caused by fibrolamellar hepatocellular carcinoma.

A 24-year-old man with hepatocellular carcinoma presented with recurrent obstructive jaundice caused by bile duct invasion and distal migration of necrotic tumor fragments. After resection of an isolated left lobe tumor, he was well for 2 years until he again presented with obstructive jaundice caused by necrotic tumor and clot in the common bile duct. Analysis of his tumor revealed the fibrolamellar histologic variant of hepatocellular carcinoma. This case is unique in that the hepatocellular carcinoma was of the fibrolamellar variant and presented both initially and when recurrent 2 years later with obstructive jaundice caused by invasion of the common bile duct.

Adult↗

Clinicopathological study of the diffuse sclerosing variety of papillary cancer of the thyroid. Presentation of 4 new cases and review of the literature.

A new variant of papillary carcinoma of the thyroid is analysed, known as 'diffuse sclerosing'. This lesion is characterized by a papillary cancer with a marked lymphocytic infiltration, intense fibrosis and a large number of psammoma bodies. Of a population of 158 differentiated thyroid carcinomas, we found four cases of this rare variant. The clinicopathological characteristics were studied together with the importance of an accurate diagnosis and prognosis, and the data obtained were compared with those of a 'well-differentiated or classical' papillary cancer, which yielded the following outstanding features: (a) younger age of presentation; (b) greater affinity for males; (c) greater frequency of extrathyroid extension; and (d) greater frequency of recurrences. The clinical importance of recognizing this variant is based on the need to apply a more aggressive treatment and a more exhaustive follow-up to such patients.

Adult↗

Antithrombin III Kumamoto: identification of a point mutation and genotype analysis of the family.

We previously reported a variant antithrombin III (AT III Kumamoto) associated with a 31-year-old female who suffered from recurrent thrombotic episodes. To define the molecular basis for the variant AT III, we used a combination of genomic amplification followed by cloning, sequencing, and hybridization with allele-specific oligonucleotide probes. We obtained evidence for a cytosine to thymine transition in exon 2 (codon 47) of the AT III gene in the proband. This mutation converts arginine 47 to cysteine. Oligonucleotide hybridization procedures were used for confirmation of the mutation and for genotype analysis of the family members.

Adult↗

Oral non-dystrophic bullous eruption mainly limited to the gingivae: a mechano bullous response. A variant of cicatricial mucous membrane pemphigoid?

Fourteen patients with recurrent blistering entirely restricted to the mouth have been observed for up to 7 years. Their average age was 52 years, and there was a predilection for females (ratio 2-5:1). Patients presented with thick-roofed blisters and denuded, red, boggy areas of mucosa. The area of maximal involvement with the labial gingiva, and whilst the blisters would arise spontaneously, mechanical trauma was the obvious provocative factor in all patients. Gentle friction on normal looking mucosa would produce a bulla which became blood filled. Re-epithelialization usually occurred within 1-3 weeks, with no scarring. Biopsies showed subepithelial bullae, and direct immunofluorescence was positive in the basement membrane zone of 2 of the 5 cases examined. The most striking feature was the extreme fragility of the epithelial attachment to the underlying corium, as shown by a useful clinical test with a probe. In 10 patients, the condition gradually remitted and the probe test became difficult to perform. The term acquired oral non-dystrophic epidermolysis bullosa was considered for the diagnosis, although a forme fruste of cicatricial mucous membrane pemphigoid remained an alternative.

Adult↗