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PubMed1999

Odontogenic fibroma.

The odontogenic fibroma is a rare tumor that has generated controversy, perhaps disproportionately to its importance in the family of odontogenic tumors. The clinical and radiographic features are well documented but the histologic aspects have generated controversy. The behavior is benign, and published accounts indicate a low recurrence rate following treatment by curettage. The tumor recognized by the World Health Organization (WHO) is the legitimate odontogenic fibroma. Histologic variants include the granular cell type and the hybrid odontogenic fibroma giant cell-like tumor. Although the extraosseous "peripheral" odontogenic fibroma presents as a gingival enlargement clinically indistinguishable from other gingival lesions, its histomorphology is similar to the central tumor. A normal dental follicle around the crown of an unerupted tooth may histologically mimic the odontogenic fibroma and other odontogenic tumors.

Diagnosis, Differential↗
PubMed1975

Giant-cell tumor of bone. A demographic, clinical, and histopathological study of all cases recorded in the Swedish Cancer Registry for the years 1958 through 1968.

All seventy-five cases recorded as giant-cell tumor of bone in the Swedish Cancer Registry for the years 1958 through 1968 were analyzed. At reexamination, fifty-three cases constituted genuine giant-cell tumor of bone and twenty cases were so-called "giant-cell variants". The genuine giant-cell tumors showed a significantly higher incidence in the urban than in the rural population. The recurrence rate was 42 per cent. Patients under the age of twenty-five rarely had recurrences. A high recurrence rate was found among patients with tumors located in the distal end of the femur and the proximal end of the tibia. Tumors penetrating through the bone cortex were more aggressive than those located entirely within bone, regardless of tumor size and presence or absence of spontaneous fracture. A malignant course was found in 11.3 per cent of cases, predominantly in patients with tumors in the femur. Histopathological grading was of no prognostic value. Primary en bloc resection with or without prosthetic replacement is recommended in patients over the age of twenty-five.

Adolescent↗
PubMed2002

[Eccrine porocarcinoma with extensive cutaneous metastasis].

BACKGROUND: Porocarcinoma is a malignant tumour of the eccrine sweat duct, arising from acrosyringium. The tumoral lesions involve the deep dermal tissue. CASE REPORT: We report the case of an 84 year-old woman, suffering from a porocarcinoma, extensively involving the major part of the left lower limb. The first symptoms appeared two years ago. Hundreds of metastatic papules and small nodules were present, isolated or confluent into large plaques. The clinical picture was very close to lymphangioma. Diagnosis was confirmed by histopathologic examination. Radiotherapy was useful short-term, allowing partial flattening of the lesions and improving lymphatic drainage, thus providing comfort for the patient. It did not prevent a later progression of the tumoral process. DISCUSSION: Porocarcinoma is a rare tumour that usually appears as a single nodule or a plaque, arising from a preexistent eccrine poroma, or developing de novo. Two histopathological variants are described: trabecular or epidermotropic. This latter form, observed in the present case, is more aggressive, leading to frequent local recurrences and/or metastases. Our report is exceptional: the literature shows only one other case with such widespread cutaneous involvement. The clinical course of our case is discussed.

Acrospiroma↗
PubMed1991

[Platelet aggregation in different clinical variants of the course of ischemic heart disease].

Dynamic examination for ADP-induced platelet aggregation was performed in coronary patients with angina pectoris, microfocal or macrofocal uncomplicated myocardial infarction, recurrent infarction, cardiogenic shock. Healthy subjects served as control. The unidirectional trend was revealed: a decrease in aggregation and disaggregation capacity of platelets most evident in complicated coronary heart disease. This seems to result from initial platelet hyperactivation and subsequent depletion. Platelet hemostasis correction is feasible under early and accurate diagnosis of the above impairments.

Adult↗
PubMedDate not supplied

Characterization of intermediate type (WHO "atypical") meningiomas.

The intermediate type meningioma (formerly "meningioma variant with signs of increased proliferation activity"; WHO "atypical" meningioma) represents a meningioma group the mean Ki-67 index and the recurrence rate of which lie between those of the ordinary and the anaplastic type [Kolles et al. 1995]. In the study cited (n = 160) the percentage of recurrences was 9% in the common, 29% in the intermediate, and 50% in the anaplastic type. The present study focuses on 49 subsequently diagnosed meningiomas of the intermediate type. Apart from certain histopathological features, the most important independent factors associated with recurrence were Ki-67 indices covering the 95% confidence interval between 3.7% and 4.9%. At the light-microscopic level, however, meningiomas in general, and especially those supposed to belong to the intermediate type, are highly variable in tissue architecture and do, in contrast to the anaplastic type, not display frank histological features of anaplasia. Morphologically, the growth pattern of solid ("syncytial") sheets, micronecroses, and large distinct nucleoli are suspicious. Cytogenetically, independent of the loss of one chromosome 22, it has been shown that terminal loss of the short arm of one chromosome 1 (1p-) or complete loss of this chromosome were useful additional indicators of meningioma progression.

Adult↗
PubMed2001

Prognostic evaluation of proliferative activity and DNA content in the phyllodes tumor of the breast: immunohistochemical and flow cytometric study of 118 cases.

The goal of this study was the prognostic evaluation of histology, mitotic rate, S-phase fraction (SPF) and expression of proliferative antigen Ki67 and p53 protein in phyllodes tumor of the breast. The study was performed in the group of 118 patients with phyllodes tumor treated by surgery from 1952 to 1998. Mitotic rate was assessed on the representative histological specimens. Expressions of Ki67 and p53 were evaluated by immunohistochemistry on a section from the corresponding paraffin blocks which were also used for flow cytometric DNA evaluation. Histologically, 52 tumors were benign (LGM), 24 borderline malignancies (BM) while among 42 malignant tumors, 20 were monomorphous (HGM) and the remaining 22 revealed heterologic elements (HGH). Tumor recurrencies occurred in 17 patients, predominantly during the first three years after surgery, and 13 patients died of the tumor (1 BM, 12 both malignant variants). Multivariate analysis demonstrated mitotic rate, SPF and p53 expression as independent prognostic parameters for the disease-free survival. Histological tumor type and expression of Ki67 influenced independently the overall survival. In conclusion, the histological type of tumor phyllodes forms the basis for the prognosis of clinical outcome, but the indicators of the proliferative activity, especially Ki67 index, are valuable prognostic factors among patients with malignant variant of phyllodes tumor of the breast. Expression of the p53 protein in tumor cells could be also useful when the percentage of cells and intensity of expression are considered.

Adolescent↗
PubMed1981

The odontogenic keratocyst: orthokeratinized variant.

The histopathologic and clinical features of sixty cases of orthokeratinized odontogenic cysts were compared with those of odontogenic keratocysts (typically parakeratinized). According to the results of this study, the orthokeratinized odontogenic cyst appears to be a distinct clinicopathologic entity. This cyst is histologically characterized by a thin, uniform, epithelial lining with orthokeratinization and a subjacent granular cell layer. The basal cells are usually cuboidal or flattened. Clinically, the orthokeratinized cyst is a single cyst, shows a predilection for males, and is most often found in the second to the fifth decade, it appears most commonly as a dentigerous cyst in the posterior mandible. The orthokeratinized cyst shows little clinical aggressiveness. Follow-up of twenty-four patients revealed only one recurrence; of nineteen patients evaluated, none had features of the basal cell nevus-bifid rib syndrome. It is suggested that this cyst be called odontogenic keratocyst, orthokeratinized variant.

Adolescent↗
PubMed2003

Poorly differentiated extraskeletal myxoid chondrosarcoma with t(9;22)(q22;q11) translocation presenting initially as a solid variant devoid of myxoid areas.

Extraskeletal myxoid chondrosarcoma (EMC) is a rare soft tissue tumor associated with the translocation t(9;22)(q22;q11-12). Although it has a typical microscopic appearance its morphologic spectrum is wide. We report a case of clinically aggressive, poorly differentiated EMC showing the characteristic translocation, which presented initially as a poorly differentiated sarcoma devoid of myxoid areas in the upper arm of an 85-year-old man. The recurrent tumor contained scattered myxoid areas, which merged imperceptibly with the poorly differentiated areas. Some myxoid areas contained necrotic foci surrounded by viable cells giving rise to a pseudorosette-like arrangement. There were epithelioid foci. This case confirms that solid variants of EMC may exist. Poorly differentiated EMC may have a worse prognosis than classic EMC.

Aged↗
PubMed1983

Catheter-induced coronary artery spasm: an angiographic manifestation of vasospastic angina?

During a 4-year period, 33 patients with angiographic coronary artery spasm in the absence of significant fixed occlusive disease were reviewed. Sixteen patients had typical variant angina and 17 had catheter-induced spasm. All patients had one or more episodes of rest angina. Left ventriculography demonstrated mitral valve prolapse in 14 patients (42%) and end-systolic cavity obliteration in six (18%). Spasm was demonstrated to occur in the right coronary artery in 26 patients and in the left coronary artery in seven. Two patients had multivessel spasm. Comparing patients with variant angina and catheter-induced spasm demonstrated no significant difference in clinical, ECG, or angiographic parameters. Two patients with catheter-induced spasm had healed myocardial infarctions and both developed spontaneous non catheter-induced spasm in the infarct vessel. The majority of patients responded to long-acting nitrate therapy, though those with catheter-induced spasm tended to have more recurrent chest pain. Six patients were placed on calcium antagonist drugs with marked symptomatic improvement in five. This study suggests that patients with catheter-induced spasm are similar to those with variant angina and its angiographic documentation may be a marker for the identification of patients with vasospastic angina.

Adult↗
PubMed1997

Evidence that recurrent Plasmodium falciparum infection is caused by recrudescence of resistant parasites.

Isolates of Plasmodium falciparum obtained from 12 children attending different health facilities in the Madang Province, Papua New Guinea were typed for allelic variants of merozoite surface protein-1 and merozoite surface protein-2. Blood was obtained just before treatment with either amodiaquine or chloroquine and at intervals following treatment. All patients examined were found to be infected with genetically different parasites. Nine of the children were found to have single infections while three had mixed infections. In all patients, parasites reappearing in the blood following treatment had the same genotype as parasites in the primary infection. These results indicate that parasites reappearing in the blood following treatment were the result of true recrudescence and not new infections.

Alleles↗
PubMed2004

Recent progress in predictive biomarkers for metastatic recurrence of human hepatocellular carcinoma: a review of the literature.

Molecular markers (biomarkers) for hepatocellular carcinoma (HCC) metastasis and recurrence could provide additional information to that gained from traditional histopathological features. A large number of biomarkers have been shown to have potential predictive significance. One important aspect of this is to detect the transcripts of tumor-associated antigens (such as AFP, MAGEs, and CK19), which are proposed as predictive markers of HCC cells disseminated into the circulation and for metastatic recurrence. Another important aspect is to analyze the molecular markers for cellular malignancy phenotype, including DNA ploidy, cellular proliferation index, cell cycle regulators, oncogenes, and tumor suppressors (especially p53 gene), as well as telomerase activity. Molecular factors involved in the process of HCC invasion and metastasis, including adhesion molecules (E-cadherin, catenins, ICAM-1, laminin-5, CD44 variants, osteopontin), proteinases responsible for the degradation of extracellular matrix (MMPs, uPA system), as well as angiogenesis regulators (such as VEGF, intratumor MVD), have also been shown to be potential predictors for HCC metastatic recurrence and clinical outcomes. One important new trend is to widely delineate biomarkers with genomic and proteomic expression with reference to predicting metastatic recurrence, molecular diagnosis, and classification, which has been drawing more attention recently. Body fluid (particularly blood and urine) testing for biomarkers is easily accessible and more useful in clinical patients. The prognostic significance of circulating DNA in plasma or serum and its genetic alterations is another important direction. More attention should be paid to these areas in the future. As understanding of tumor biology deepens, more and more new biomarkers with high sensitivity and specificity for HCC metastatic recurrence could be found and routinely used in clinical assays. However, the combination of the pathological features and some of the biomarkers mentioned above seems to be more practical up to now.

Angiogenesis Inducing Agents↗
PubMed2005

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis.

BACKGROUND: Diseases arising from mitochondrial DNA (mtDNA) mutations are usually serious pleiotropic disorders with maternal inheritance. Owing to the high recurrence risk in the progeny of carrier females, "at-risk" couples often ask for prenatal diagnosis. However, reliability of such practices remains under debate. Preimplantation diagnosis (PGD), a theoretical alternative to conventional prenatal diagnosis, requires that the mutant load measured in a single cell from an eight cell embryo accurately reflects the overall heteroplasmy of the whole embryo, but this is not known to be the case. OBJECTIVE: To investigate the segregation of an mtDNA length polymorphism in blastomeres of 15 control embryos from four unrelated couples, the NARP mutation in blastomeres of three embryos from a carrier of this mutation. RESULTS: Variability of the mtDNA polymorphism heteroplasmy among blastomeres from each embryo was limited, ranging from zero to 19%, with a mean of 7%. PGD for the neurogenic ataxia retinitis pigmentosa (NARP) mtDNA mutation (8993T-->G) was therefore carried out in the carrier mother of an affected child. One of three embryos was shown to carry 100% of mutant mtDNA species while the remaining two were mutation-free. These two embryos were transferred, resulting in a singleton pregnancy with delivery of a healthy child. CONCLUSIONS: This PGD, the first reported for a mtDNA mutation, illustrates the skewed meiotic segregation of the NARP mtDNA mutation in early human development. However, discrepancies between the segregation patterns of the NARP mutation and the HV2 polymorphism indicate that a particular mtDNA nucleotide variant might differentially influenced the mtDNA segregation, precluding any assumption on feasibility of PGD for other mtDNA mutations.

Blastula↗
PubMed1998

Transient emergence of hepatitis B variants in a patient with chronic hepatitis B resistant to lamivudine.

BACKGROUND: Lamivudine is a cytosine nucleoside analogue that inhibits hepatitis B virus replication. Resistance to lamivudine monotherapy has been reported in patients who received lamivudine to prevent recurrent hepatitis B virus infection after liver transplantation. No cases of resistance have been described in patients who did not clear HBV DNA during lamivudine therapy. METHODS: We report the case of an adult patient with chronic HBeAg-positive hepatitis B who had a hepatitis flare during lamivudine therapy. The patient did not respond to lamivudine and, at 4 months of treatment, developed a significant serum alanine aminotransferase elevation. Alanine aminotransferase levels remained elevated for 4 months and returned to baseline spontaneously. Lamivudine therapy was administered for 1 year (52 weeks) and after withdrawal, alanine aminotransferase levels remained elevated. RESULTS: Sequencing studies of HBV DNA at week 52 showed the emergence of a lamivudine-resistant variant associated with two point mutations in the hepatitis B virus polymerase gene: one mutation led to amino acid substitution of methionine to valine at residue 552, in the highly conserved tyrosine-methionineaspartate-aspartate motif, part of the active site of the polymerase; the second mutation consisted of a substitution of leucine to methionine at residue 528. At week 54 of follow-up, both mutations were undetectable. CONCLUSION: This observation demonstrates the transient emergence of HBV variants in the course of therapy in a patient resistant to lamivudine therapy.

Adult↗
PubMed1992

Analysis of clinical course and prognosis of culture-positive spontaneous bacterial peritonitis and neutrocytic ascites. Evidence of the same disease.

The clinical significance and prognosis of culture-negative neutrocytic ascites in cirrhotic patients is a controversial topic. In the present study, the clinical and humoral presentation and the short- and long-term prognosis were analyzed in 36 patients with cirrhosis and culture-positive spontaneous bacterial peritonitis and in 28 patients with cirrhosis and ascitic fluid polymorphonuclear count greater than 250/mm3, a negative ascitic fluid culture, and without previous antibiotic therapy. On admission there were no significant differences between groups related to age, sex, alcoholism, fever, abdominal pain, serum albumin, serum urea, serum creatinine, Child-Pugh score, polymorphonuclear count, and total protein concentration in ascitic fluid. A greater frequency of positive blood culture was found in patients with spontaneous bacterial peritonitis (15/21 vs 2/18) (P < 0.001). Mortality during the first episode was 36% in patients with spontaneous bacterial peritonitis and 46% in patients with culture-negative neutrocytic ascites (NS). Mortality during follow-up was high and survival probability at 12 months was 32% in spontaneous bacterial peritonitis and 31% in culture-negative neutrocytic ascites. The probability of recurrence at 12 months was 33% in spontaneous bacterial peritonitis and 34% in culture-negative neutrocytic ascites. Our results show that spontaneous bacterial peritonitis and culture-negative neutrocytic ascites are variants of the same disease with a high mortality and poor prognosis.

Aged↗
PubMed2003

Two novel fibrinogen variants found in patients with pulmonary embolism and their families.

BACKGROUND: The occurrence of dysfibrinogen is quite rare in comparison with other hemostatic defects, specially in cases of venous thrombosis. OBJECTIVES: Fibrinogen is known to have multiple functions, which are not evaluated by simple coagulation testing. We have used gel electrophoresis to search for new mutations. PATIENTS AND METHODS: Specimens of purified fibrinogen from 217 consecutive patients with familial or recurrent or early thrombosis and from 490 control subjects were evaluated by electrophoresis. Plasma fibrinogen levels and coagulation-dependent tests (electromechanical and optical coagulometric determinations, immunological measurement, thrombin and Reptilase(R) times) were normal. RESULTS: Two novel familial variants were detected. For a 42-year-old patient, an in-frame 117 base pair insertion in the Aalpha-chain gene caused a 5-kDa mobility shift of the Aalpha chain. This corresponds to a 39 amino acid duplication in the connector domain (fibrinogen Champagne au Mont d'Or). This pattern was also found in the patient's mother and child. A second 31-year-old patient presented an extra band under non-reducing conditions, 30 kDa larger than HMW fibrinogen and reacting with antifibrinogen antibodies (fibrinogen Lozanne). A heterozygous 5909A-->G mutation was found on the Bbeta-chain gene leading to heterozygous Bbeta Tyr236--> stop codon. The predicted truncated Bbeta chain could participate in chain assembly. Two family members were also affected, one of whom had suffered early venous thrombosis. CONCLUSIONS: Electrophoretic testing of apparently normal fibrinogens can reveal new variants which may be clinically relevant.

Adult↗
PubMed2024

Genetics of constant and severe pain in the NAPS2 cohort of recurrent acute and chronic pancreatitis patients.

Recurrent acute and chronic pancreatitis (RAP, CP) are complex, progressive inflammatory diseases with variable pain experiences impacting patient function and quality of life. The genetic variants and pain pathways in patients contributing to most severe pain experiences are unknown. We used previously genotyped individuals with RAP/CP from the North American Pancreatitis Study II (NAPS2) of European Ancestry for nested genome-wide associated study (GWAS) for pain-severity, chronicity, or both. Lead variants from GWAS were determined using FUMA. Loci with p<1e-5 were identified for post-hoc candidate identification. Transcriptome-wide association studies (TWAS) identified loci in cis and trans to the lead variants. Serum from phenotyped individuals with CP from the PROspective Evaluation of Chronic Pancreatitis for EpidEmiologic and Translational StuDies (PROCEED) was assessed for BDNF levels using Meso Scale Discovery Immunoassay. We identified four pain systems defined by candidate genes: 1) Pancreas-associated injury/stress mitigation genes include: REG gene cluster, CTRC, NEURL3 and HSF22. 2) Neural development and axon guidance tracing genes include: SNPO, RGMA, MAML1 and DOK6 (part of the RET complex). 3) Genes linked to psychiatric stress disorders include TMEM65, RBFOX1, and ZNF385D. 4) Genes in the dorsal horn pain-modulating BDNF/neuropathic pathway included SYNPR, NTF3 and RBFOX1. In an independent cohort BDNF was significantly elevated in patients with constant-severe pain. Extension and expansion of this exploratory study may identify pathway- and mechanism-dependent targets for individualized pain treatments in CP patients. PERSPECTIVE: Pain is the most distressing and debilitating feature of chronic pancreatitis. Yet many patients with chronic pancreatitis have little or no pain. The North American Pancreatitis Study II (NAPS2) includes over 1250 pancreatitis patients of all progressive stages with all clinical and phenotypic characteristics carefully recorded. Pain did not correlate well with disease stage, inflammation, fibrosis or other features. Here we spit the patients into groups with the most severe pain and/or chronic pain syndromes and compared them genetically with patients reporting mild or minimal pain. Although some genetic variants associated with pain were expressed in cells (1) of the pancreas, most genetic variants were linked to genes expressed in the nervous system cells associated with (2) neural development and axon guidance (as needed for the descending inhibition pathway), (3) psychiatric stress disorders, and (4) cells regulating sensory nerves associated with BDNF and neuropathic pain. Similar and overlapping genetic variants in systems 2 -4 are also seen in pain syndromes form other organs. The implications for treating pancreatic pain are great in that we can no longer focus on just the pancreas. Furthermore, new treatments designed for pain disorders in other tissues may be effective in some patient with pain syndromes from the pancreas. Further research is needed to replicate and extend these observations so that new, genetics-guided rational treatments can be developed and delivered.

Humans↗
PubMed2001

[Plaque variant of trichoblastic fibroma].

BACKGROUND: Tricoblastic fibroma is a rare benign skin tumor originating in the hair follicle. There are two clinical presentations: nodular and plaque variants. The plaque variant is almost exclusively located on the face with deep tissue infiltration. CASE REPORT: A 38-year-old man presented with a 2 cm diameter cutaneous plaque located on the right cheek. It had first been noted by the patient 3 years earlier and had enlarged slowly. On examination, the plaque was well defined, yellowish and slightly indurated. The first clinical diagnosis was basal cell carcinoma and the plaque was removed. Histology provided the diagnosis of trichoblastic fibroma. The patient remains well, with no evidence of recurrence, 10 months after excision. DISCUSSION: Trichoblastoma is an inclusive term for all benign cutaneous neoplasms that are mostly composed of follicular germinative cells. According to Altman, the plaque variant of trichoblastic fibroma is a poorly circumscribed neoplasm, particularly at its lateral and deep margins. This author also states that mitotic figures are more numerous in the plaque variant of trichoblastic fibroma and considers this clinical variant as a low-grade follicular malignancy.

Adult↗
PubMed2001

Increased QT dispersion in patients with Prinzmetal's variant angina and cardiac arrest.

OBJECTIVES: We sought to compare QT dispersion in patients presenting with Prinzmetal's variant angina complicated by cardiac arrest or syncope and patients with uncomplicated variant angina. BACKGROUND: Despite the usually benign course of treated Prinzmetal's variant angina, a proportion of vasospastic angina patients develop ventricular arrhythmias and sudden death in association with coronary spasm. Increased QT dispersion has been suggested to increase susceptibility to ventricular arrhythmias in patients with coronary artery spasm. METHODS: We studied 25 consecutive patients (mean age 58 years; 14 men) with classical Prinzmetal's variant angina and documented coronary artery spasm. None of the patients had coronary artery stenoses < or =40%. Five patients had suffered a documented cardiac arrest, two had recurrent syncope and 18 had no arrhythmic events or syncopal episodes. In all patients QT dispersion (QT maximum-QT minimum in every ECG lead) was measured on the baseline 12-lead electrocardiogram at study entry using a digitising board. RESULTS: Mean (+/-S.D.) QT dispersion of study patients was 62.3+/-19.5 ms. QT dispersion in patients with cardiac arrest and syncope (79.4+/-17.3 ms) was significantly higher compared to patients with no such events (56.3+/-16.9 ms), (95% CI 7.5-38.8, P=0.005). No significant clinical, biochemical or angiographic differences were found between patients with and those without cardiac arrest or syncope. CONCLUSION: QT dispersion is increased in patients with Prinzmetal's variant angina complicated by cardiac arrest and syncope compared to patients without such events. Increased QT dispersion may be both a substrate for sudden cardiac death and a marker of risk in patients with Prinzmetal's variant angina.

Adult↗