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PubMedDate not supplied

[Clinico-morphologic characterization of mucoepidermoid carcinoma of the salivary glands].

64 cases of SGMC were studied. Clinical morphology of epidermoid carcinoma was studied according to the 2nd edition of the International histologic classification of the tumors of this site (WHO, Geneva, 1990). This allows to study not only incidence of this tumor depending on the site, sex and age, but to give new data on its biology. The malignancy of all the three types of this tumor (of low, moderate and high grade) was confirmed by means of histologic, histochemical, electron-microscopic (EM) and EM-histochemical methods. The previous assumption on benign character of the low-grade variant of the tumor was not confirmed.

Adolescent↗
PubMed1998

Expression of CD44 standard and variant-v6 proteins in transitional cell bladder tumours and their relation to prognosis during a long-term follow-up.

The expression of the standard CD44 (CD44s) and its v6 isoform (CD44v6) was analysed immunohistochemically in 173 cases of transitional cell bladder cancer. The results of immunohistochemical analyses were related to established prognostic factors and clinical follow-up data. The expression intensity of CD44s in non-basal tumour cells was significantly related to TN classification, S-phase fraction (SPF), mitotic index, grade, density of tumour infiltrating lymphocytes. The expression intensity of CD44v6 in non-basal tumour cells was inversely related to DNA ploidy, SPF, and mitotic index. The expression intensity of CD44v6 in basal tumour cells was also inversely related to T-category, grade, papillary status, DNA ploidy, SPF, and mitotic index. Strong expression of CD44s in non-basal tumour cells was related to unfavourable outcome in univariate analysis (p = 0.008), whereas the strong expression of CD44v6 in both non-basal cells (p = 0.005) and basal cells (p = 0.0008) was related to high survival probability. In multivariate survival analysis, the expression intensity of CD44v6 was independently related to favourable outcome in muscle invasive tumours, while in superficial tumours, CD44s was an independent prognostic factor. The results suggest that the expression of CD44s and CD44v6 is associated with malignant features and prognosis in bladder cancer.

Adult↗
PubMed2000

[Lipomatous tumors of the skin and soft tissue. New entities and concepts].

Mesenchymal neoplasms of lipogenic differentiation are the most common soft-tissue neoplasms in adults. In recent years a number of "new" entities and variants have been described. Their recognition is important to avoid diagnostic pitfalls and inappropriate therapy. Chondroid lipoma, myolipoma, and purely cutaneous spindle-cell/pleomorphic lipoma are biologically benign neoplasms which may mimic sarcomas morphologically. Despite high-grade morphology cutaneous liposarcomas carry a favorable clinical prognosis. Spindle cell liposarcoma is a rare variant of atypical lipomatous tumour (well-differentiated liposarcoma) and must be distinguished from dedifferentiated liposarcoma with metastatic potential and benign spindle cell lipoma. The advent of cytogenetic and molecular investigations of lipomatous neoplasms has contributed to a better understanding of the biology of these neoplasms and led to a modification of conventional classification schemes.

Diagnosis, Differential↗
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↗
PubMed1991

Enzymologic studies on patients with methylmalonic aciduria: basis for a clinical trial of deoxyadenosylcobalamin in a hydroxocobalamin-unresponsive patient.

Eleven patients with methylmalonic aciduria have been classified on the basis of detailed enzymology on cultured skin fibroblasts. Nine were classified as mutase deficiencies and were unresponsive to hydroxocobalamin in vivo or in vitro. One was classified as a Cbl A variant and was responsive to hydroxocobalamin therapy in vitro and in vivo. Patient 11 was classified as having deoxyadenosyltransferase deficiency (Cbl B). However, a clinical therapeutic trial of deoxyadenosylcobalamin resulted in no clinical or biochemical improvement. Further studies on the patient's cultured fibroblasts suggested that deoxyadenosylcobalamin fails to reach the mitochondria in an intact form. These studies show that detailed enzymologic classification is essential for the reliable evaluation of the response to therapeutic maneuvers; complementation studies alone may be inadequate to completely classify these patients. Therapy with deoxyadenosylcobalamin offers no advantages over the use of hydroxocobalamin in the treatment of patients with methylmalonic aciduria.

Alkyl and Aryl Transferases↗
PubMed1981

[Species makeup of coagulase-negative staphylococci of clinical origin].

The classification of Kloos--Schleifer was used for the identification of 175 clinical strains of coagulase-negative staphylococci. The species of staphylococci in 50.3% of the cultures were determined; as a result, S. epidermidis and S. saprophyticus were not found to be in the majority among them. The authors concluded that the above-mentioned scheme, as well as its short variant proposed by the International Subcommittee on the Taxonomy of Staphylococci and Micrococci could not be recommended for practical use.

Coagulase↗
PubMed2005

Erythrokeratodermas: a classification in a state of flux?

The term 'erythrokeratodermas' or 'erythrokeratodermias' has been applied to a group of inherited disorders characterized by well-demarcated erythematous lesions and hyperkeratotic plaques. Connexin mutations have been demonstrated to be responsible for most cases of erythrokeratoderma variabilis but there remain some cases without demonstrated connexin mutations, suggesting genetic heterogeneity. The position of progressive symmetric erythrokeratoderma has become rather unclear. Loricin mutations have been found in some cases that clinically resemble variant Vohwinkel syndrome and other cases have features that overlap with those of erythrokeratoderma variablis. Whether progressive symmetric erythrokeratoderma exists as a distinct entity is under question.

Child↗
PubMed1990

DNA in chordomas of the clivus Blumenbachi.

Chordomas of the clivus are frequently denoted as malignant, mainly because of their propensity to recur, their crucial location and the fatal clinical course. Although microscopical examination commonly reveals pleomorphism, particularly of cells and nuclei, the histological assessment of malignancy is not always appropriate. The measurement of DNA could provide important information for a classification of their biological behavior (grading). Our examination of a chondroid chordoma revealed a typical diploid DNA curve within a "benign" 4C range concordant to the favorable course of this variant. Our second examination of a "typical" chordoma showed a wide pleomorphism of cell nuclei and moderate proliferation activity within a "low grade" scale. This pointed to a coming (fatal) recurrence 3.5 years after the first surgery. The third chordoma we examined presented an extraordinary 4C aneuploidy with hypertetraploid subpopulations and an increased number of bi- or poly-nucleated tumor cells with prominent nucleoli and some more mitotic figures. In 5 recurrences the DNA pattern remained principally unchanged.

Adult↗
PubMed1996

The offensive subtype of Taijin-kyofu-sho in New York City: the phenomenology and treatment of a social anxiety disorder.

BACKGROUND: Taijin-kyofu-sho (TKS) is thought to be a common, culture-bound disorder of social anxiety in Japan and Korea. Its phenomenology has been noted to overlap with that of social phobia. The "offensive type" of TKS, which has no direct parallel in Western classification, is characterized by a fear of offending others in social situations, which leads to social avoidance. There has been only one case of offensive-type TKS reported in the United States, and this case was not regarded as a variant of social phobia. METHOD: The phenomenology and treatment of six patients who presented to New York City anxiety disorders research clinic psychiatrists with the offensive type of TKS are described. Features of TKS are compared with those of social phobia, as described in Western countries. Treatment outcomes for four patients are discussed and compared with TKS treatment experience in Japan and Korea and with treatment outcome in social phobia. RESULTS: In this anxiety clinic sample, features of the offensive type of TKS showed much overlap with symptoms of social phobia. Only two of four treated patients in this TKS sample received adequate trials of medication known to be effective for social phobia, and one of the two improved significantly. CONCLUSION: The offensive type of TKS may not be as culture-bound as previously thought. Further study is needed to determine whether such cases respond to medications and to cognitive-behavioral approaches that are effective for social phobia. How to classify the offensive type of TKS is uncertain, but social phobia should be considered in the differential diagnosis.

Adolescent↗
PubMed1986

[Prospects and approaches to improving pathologo-anatomic services from the standpoint of the therapist].

The paper defines the morphologic basis of modern clinical medicine as one of the determining factors of its further development. Approaches to improvement of studies of the life-time biopsy specimens are discussed, as well as variants of cooperation between the pathoanatomists and clinical morphologists. The system of pathoanatomical reports, the work of treatment- and- control commissions and conferences on clinical anatomy are considered from the physician's point of view. Optimal measures should be taken to make the analysis of the physician's errors comprehensive and useful. Combined efforts are needed for the further improvement of the nomenclature, classification and terminologic characteristics of the diseases. Closer interactions between the pathoanatomists and therapists are suggested.

Biopsy↗
PubMed2006

Congenital hypothyroidism: from paracelsus to molecular diagnosis.

Endemic cretinism was noted in alpine Europe as early as the 13th century. However, it was only in 1848 that a commission, sponsored by the King of Sardinia, first formally demonstrated its link to goiter. An important landmark was the publication of a report in 1871 describing several cases of nongoitrous hypothyroidism that were clearly distinguished from the endemic form of the disease, for which the author suggested the designation of "sporadic cretinism." Classification of the hypothyroid status was for a long time solely based on clinical observation. In the second half of the 20th century, the use of radionuclides (iodine radioisotope and technetium pertechnetate) allowed a more precise diagnosis and taxonomy into thyroid dysgenesis and dyshormonogenesis. This brief review summarizes the progress that has been achieved during the last 40 years in diagnosing the multiple variants of congenital hypothyroidism (CH). It becomes evident that while accurate diagnosis for CH is readily available, its exact etiology requires a precise molecular investigation as different genes are implicated in the differentiation, migration and growth of the thyroid gland.

Congenital Hypothyroidism↗
PubMed2026

The importance of integrating genetic testing into reproductive medicine: a retrospective observational study investigating the monogenic causes of human infertility in couples considering ICSI.

The genetic landscape of human infertility is complex with diverse etiologies. Identifying the underlying etiology is crucial for guiding reproductive decisions and improving management for infertile couples. Here, we aim to report on the molecular spectrum of monogenic genetic causes of reproductive failure. Over a 3-year period, we recruited all infertile couples considering assisted reproductive technologies (ART) for whom the underlying genetic cause had been identified, in either partner, using exome sequencing (ES). Clinical data of all participants along with their hormonal profiles, sonographic findings and spermograms were recorded. The study included 50 couples with primary infertility. Clinically, male factor infertility was documented in 26 patients, female factor infertility in 10, while reproductive failure was unexplained in the remaining 14 couples. All participating couples had potentially disease-causing variants in infertility genes. ES identified variants related to male infertility in 26 men, while variants in female infertility-related genes were detected in the remaining couples (n = 24). According to ACMG classification criteria, 78% (39/50) of couples harbored pathogenic/likely pathogenic (P/LP) variants, whereas 22% (11/50) carried variants of uncertain significance (VUS). In view of the identified genetic etiologies, the cohort was stratified into two groups based on the predicted reproductive outcome: (1) couples with significantly impaired reproductive potential, and (2) couples who can have biological children using appropriate medical interventions. However, classifications involving VUS were interpreted cautiously and considered exploratory. This study provides further evidence for the molecular heterogeneity of human infertility and highlights the usefulness of genetic testing for infertile couples pursuing ARTs.

Humans↗
PubMed1992

Nosological considerations of the neurofibromatoses.

We are on the threshold of evaluating the NF1 and NF2 loci with respect to variant forms of the neurofibromatoses. Genetic mapping of NF1, gene cloning and characterization of its encoded product, neurofibromin, provides a framework for the evaluation of the variant forms of NF. This may also apply to NF2 variant forms in the near future. The mapping approach in evaluating variant forms of NF should begin with the rigorous clinical assessment of familial cases whereby the establishment of genetic linkage in families with overlap syndromes might determine if either NF1, NF2, or a separate locus is involved in the phenotype. Conditions mapping to the NF1 locus could then be screened for mutations in hopes of identifying the etiologies of the variant forms of NF. Mutation identification should provide a molecular-based classification scheme for the variant forms of NF, now tentatively divided into alternative and related forms. It is expected that the nosology of the neurofibromatoses will most certainly change as more is learned of the NF1 and NF2 loci.

Diagnosis, Differential↗
PubMed2006

[Post-cholecystectomy syndrome: the modern view of the problem].

The authors summarize and systematize literature data and their own observations concerning post-cholecystectomy syndrome (PCES), the reasons for and the mechanisms of its development, its clinical variants etc. The authors suggest the following PCES forms should be distinguished: functional ("egenuine") forms, which develop due to gall bladder removal and the loss of its functions, and organic ("conditional") PCES forms, which develop as a consequence ofaflawy surgery and/or preoperative complications of chronic calculous cholecystitis, which dominate in the postoperative clinical picture and are mistakenly considered cholecystectomy consequences. An original operational classification of PCES is adduced; possibilities provided by contemporary instrumental and laboratory techniques of differential diagnostics are considered; differential treatment and prophylaxis of PCES are described.

Diagnosis, Differential↗
PubMed1981

[Primary centrocytic lymphoma of the skin: diagnosis, course and therapy (author's transl)].

A primary B-cell lymphoma of the skin is described, showing the clinical picture of a lymphadenosis cutis circumscripta. According to the Kiel classification, it has been classified as a centrocytic lymphoma (centrocytoma) belonging to the low-grade malignancy group. The centrocytoma is a newly defined type of lymphoma which is not identical with any earlier entity of lymphoreticular neoplasia. Although the centrocytoma is said to occur relatively often in the skin, the present case report seems to be the first clinical description of this variant. In our patient a solitary tumor of the face was found, which had slowly enlarged since 3 1/2 years. No lymph node and no systemic involvement were detectable. With a telecobalt-60 treatment up to a total of 40 Gy (= 4,000 rad) a complete involution could be achieved without recurrence 6 months after radiotherapy had been finished. In contrast to the centrocytoma of lymphonodal origin, the primary cutaneous type may obviously remain localized for a long time with low tendency to progression.

Female↗
PubMed1993

[Asthenic disorders in persons infected with HIV at the initial stages of the disease].

Clinical psychopathological, follow-up and neuropsychological evaluation was made for 125 HIV-infected patients in stage 2B of the disease (general lymphadenopathy by V. I. Pokrovskiĭ's classification). It is shown that seropositive subjects had asthenic syndrome for the initial 6 months of the disease. According to the manifestations, asthenia was defined as psychogenic-reactive and organic. In the former variant the treatment involved psychotherapy and occasionally drugs, the latter was treated with chemotherapy and psychopharmacological modalities as the first-line and psychotherapy as adjuvant means. The authors expect that a differential approach to HIV-infection-related asthenia at the disease onset may contribute to better life quality and prognosis in AIDS patients.

AIDS-Related Complex↗
PubMed2026

Copy Number-low/TP53-mutated Endometrial Cancer With Wild-type p53 Immunoexpression: Implications for Risk Stratification and Management When Using Next-generation Sequencing for Molecular Classification.

Endometrial cancers with the Cancer Genome Atlas (TCGA) molecular profile of TP53-mutated, POLE-wild-type, and microsatellite-stable generally exhibit a high burden of copy number (CN) alterations and carry an increased risk for adverse outcomes, meriting maximal adjuvant therapy. In contrast, the prognosis associated with a TP53 mutation that coexists with a POLE mutation or microsatellite instability aligns with that of ultramutated or hypermutated cancers, respectively. In this study, we characterized a rare molecular subclass of endometrial cancers defined by TP53 mutation but low burden of CN alterations, wild-type p53 immunoexpression (immunohistochemistry [IHC]), and low TP53 variant allele frequency (median 13% and maximum 47%). Among 723 consecutive endometrial cancers prospectively classified using next-generation sequencing, 16 (2.2%) were CN-low/TP53-mutated/p53 wild-type IHC. Two additional cases were identified in a separate retrospective cohort of 32 recurrent low-grade early-stage endometrial cancers, bringing the total to 18 cases. They affected postmenopausal patients, exhibited low-grade endometrioid histotype, and were mostly confined to the uterus without lymphovascular space invasion. The recurrence rate was 6.25% (1/16) in the prospective cohort, and none died, placing their prognosis closer to that of CN-low than CN-high cancers. We conclude that next-generation sequencing-based TCGA classification of TP53-mutated, POLE-wild-type, microsatellite-stable endometrial cancers with TP53 variant allele frequency < 50% requires further evaluation using CN analysis and/or p53 IHC to detect this rare molecular category. IHC-based TCGA classification, such as the ProMisE protocol, will not be able to detect these cases because the p53 IHC pattern is wild-type and there are no distinguishing morphological features; this may be of relevance for analyzing ProMisE protocol-based clinical trials and outcomes studies. Long-term outcome studies are needed to refine risk stratification and treatment decisions for this unique molecular class of endometrial cancers that further contributes to the evolving understanding that the clinical significance of TP53 mutation in endometrial cancer is complex and depends on coexisting molecular alterations.

Humans↗
PubMed2006

Salivary mucoepidermoid carcinoma: revisited.

Mucoepidermoid carcinoma (MEC) is a malignant epithelial neoplasm composed of varying proportions of mucous, epidermoid, intermediate, columnar, and clear cells and often demonstrates prominent cystic growth. MEC is usually subclassified as low, intermediate, or high grade on the basis of its histologic features, including the presence of cystic spaces, cellular differentiation, proportion of mucous cells, growth pattern, type of invasion, and cytologic atypia. Because even low-grade neoplasms may metastasize, the term mucoepidermoid tumor is inappropriate. The 3-level grading approach to tumor classification has found general acceptance among pathologists; differences in biologic behavior can be demonstrated even though clinical stage has become a better prognosticator. However, in the case of MEC, no universal agreement exists regarding which histologic grading criteria are most the useful, and grading has varied. These issues have led to the investigation of more subjective systems. We describe these new schemes, the histologic variants of MEC, and the ancillary methods that allow for further stratification of patients with MEC, especially for patients with grade 2 tumors, which have a variable and unpredictable clinical course.

Carcinoma, Mucoepidermoid↗