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Results for “Variant interpretation”

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PubMed1986

[Differential diagnosis of the anxiety syndrome].

An attempt is made at the differential-diagnostic interpretation of the anxiety syndrome in different nosological entities. Three variants of the syndrome are identified: neurotic, psychotic, and somatogenic. Clinical characteristics of each variant are described in detail. In the course of a detailed differential-diagnostic interpretation the author analyzes the complex of symptoms forming the anxiety syndrome, their different combinations in relation to severity, the leading role of "axial" symptoms and their peculiarities, which makes the diagnostic process far easier and accurate.

Anxiety↗

PubMed1999

Spindle cell thymic carcinoma: clinicopathologic and immunohistochemical study of a distinctive variant of primary thymic epithelial neoplasm.

We report 16 cases of a distinctive variant of primary thymic epithelial neoplasm characterized by prominent spindling of the tumor cells. The patients were seven women and nine men aged 23 to 82 years (mean, 54 years). The lesions presented as anterior mediastinal masses without clinical or radiographic evidence of tumor elsewhere. Most patients had chest pain, dyspnea, and cough; in five patients, the tumors were asymptomatic and were discovered on routine clinical examination. Grossly, the lesions were firm, well-circumscribed, and locally infiltrative, and had a firm cut surface with foci of hemorrhage, necrosis, and cystic changes. Most of the tumors were treated by complete surgical excision. Histologically, they were characterized by a spindle cell proliferation showing varying degrees of atypia and mitotic activity. In 12 cases, transitions could be seen with areas that showed the features of conventional spindle cell thymoma. In two cases, areas showing features of poorly differentiated (lymphoepitheliomalike) carcinoma and anaplastic carcinoma could also be observed. Immunohistochemical studies in 10 cases showed strong positivity of the spindle tumor cells for CAM5.2 cytokeratin, and negative staining for a panel of antibodies including epithelial membrane antigen, carcinoembryonic antigen, actin, desmin, vimentin, S-100 protein, HMB45, CD34, CD5, and CD99. Clinical follow-up of eight patients showed an aggressive biologic behavior with recurrence, metastasis, and death by tumor in five of them 2 to 5 years after diagnosis. Based on these findings, the present tumors are interpreted as an unusual spindle cell variant of thymic carcinoma. The close association of these cases with areas showing the features of spindle cell thymoma within the same tumor mass suggests that some of these lesions may arise as a result of malignant transformation in a preexisting spindle cell thymoma.

Adult↗

PubMedDate not supplied

Papillary-cystic variant of acinic cell carcinoma of the salivary gland diagnosed by fine needle aspiration biopsy. A case report.

BACKGROUND: Fine needle aspiration (FNA) biopsy is reliably used to classify most conditions involving the salivary glands. It is useful for establishing, or at least suggesting, the diagnosis in unusual cases or narrowing the differential diagnosis. CASE: A 25-year-old male presented with a slowly enlarging mass of the left parotid. FNA biopsy of the parotid gland was performed, and a diagnosis of papillary-cystic variant of acinic cell carcinoma was suggested. The patient underwent incomplete resection of the lesion, which was interpreted as acinic cell carcinoma. CONCLUSION: Papillary-cystic variant of acinic cell carcinoma is rarely seen, especially in young people. FNA biopsy is a useful diagnostic procedure that can help diagnose this relatively uncommon type of salivary gland neoplasm and guide its management.

Adult↗

PubMed1985

Artifacts, variants, and factors degrading image quality in pediatric magnetic resonance imaging.

The experience from 123 pediatric MRI examinations disclosed several different types of artifacts and age-related variants that could have caused pitfalls in MRI interpretation. Artifacts were caused by metallic objects, patient touching the RF coil, and patient motion. The potential pitfalls are caused by the MRI variant appearances of anatomical structures specific to the growing body. Recommendations concerning preparation and immobilization of children prior to and during MRI examinations to minimize artifacts are given.

Adolescent↗

PubMed2025

Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals.

BACKGROUND: Rare genetic variation provided by whole genome sequence datasets has been relatively less explored for its contributions to human traits. Meta-analysis of sequencing data offers advantages by integrating larger sample sizes from diverse cohorts, thereby increasing the likelihood of discovering novel insights into complex traits. Furthermore, emerging methods in genome-wide rare variant association testing further improve power and interpretability. RESULTS: Here, we conduct the largest meta-analysis of whole genome sequencing for low-density lipoprotein cholesterol (LDL-C), a therapeutic target for coronary artery disease, analyzing data from 246 K participants and integrating 1.23B variants from the UK Biobank and the Trans-Omics for Precision Medicine (TOPMed) program. We identify numerous rare coding and non-coding gene associations related to LDL-C, with replication across 86 K participants in All of Us. Our findings are based on single-variant analyses, rare coding and non-coding variant aggregation tests, and sliding window approaches. Through this comprehensive analysis, we identify 704 novel single-variant associations, 25 novel rare coding variant aggregates, 28 novel rare non-coding variant aggregates, and one novel sliding window aggregate. CONCLUSIONS: This study provides a meta-analysis framework for large-scale whole genome sequence association analyses from diverse population groups, yielding novel rare non-coding variant associations.

Humans↗

PubMed2006

Genetic risk profiles for Alzheimer's disease: integration of APOE genotype and variants that up-regulate inflammation.

BACKGROUND: A number of studies associate Alzheimer's disease with APOE polymorphism and alleles which favor the increased expression of immunological mediators such as cytokines or acute phase proteins. We integrated this information to better define risk and determine the relative importance of APOE and immunological mediators. METHODS: We investigated functional gene variants for APOE, IL-10 (3 loci), ACT (2 loci), HMGCR, IL-1alpha, IL-1beta, TNF-alpha, IFN-gamma, and IL-6 found for 260 AD patients and 190 controls enrolled in Northern Italy. A fuzzy latent classification approach, namely grade-of-membership analysis (GoM), was taken to identify extreme pure type risk sets, or profiles. This approach automatically relates individuals to each profile via graded membership scores. FINDINGS: Four extreme pure type risk sets were identified. Set I defined low intrinsic risk and had a low probability of carrying pro-inflammatory alleles or APOE epsilon4. Three sufficient risk sets were identified: early onset AD (set II) was characterized by a high density of pro-inflammatory alleles, a rapid cognitive decline and independent of APOE epsilon4. Late onset AD had a lower density (ages 65-74, set III), or a subset homozygous (ages 75+, set IV), for these alleles and a high probability of one or two APOE epsilon4 alleles. A total of 97% of the subjects who were cases strongly resembled, i.e. had at least 50% membership in, the sufficient risk sets, as did 25% of middle aged control subjects. IL-10, HMGCR, ACT, and IL-1beta gene variants were each more informative in identifying the risk sets than was APOE. INTERPRETATION: AD likely has many determinants including APOE polymorphism and gene variants that modulate innate immunity. Identification of these factors, risk prediction for individuals, and successful prevention and treatment trials require integration of relevant information.

Age Factors↗

PubMed1991

Acute monoblastic leukemia (FAB-M5b) with t(8;14)(p11;q11.1).

A case of acute monocytic leukemia (FAB-M5b) expressing natural killer cell-associated antigens containing a t(8;14)(p11;q11.1) is presented. We interpret this translocation to represent a variant of the t(8;16) previously reported in FAB-M5b. These findings support the contention that the 8p11 breakpoint site is the critical junction in the oncogenesis of acute monoblastic leukemia with differentiation.

Aged↗

PubMed2005

Primary chronic sclerosing osteomyelitis--a case-report.

A case of primary chronic sclerosing osteomyelitis of the fibula in a 14-year-old is described. This rare condition can be difficult to differentiate from a bone tumor. Its pathogenesis is controversial, although the prevalent hypothesis involves chronic osteomyelitis developing after an unrecognized phase of acute infection. The existence of primary chronic sclerosing osteomyelitis as a disease in its own right has been challenged. Recently, primary chronic sclerosing osteomyelitis has been interpreted as a localized or monofocal variant of multifocal recurrent chronic osteitis or of the bone abnormalities associated with seronegative spondyloarthropathies (SAPHO syndrome).

Adolescent↗

PubMed2005

Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.

The homotrimeric Fas receptor, an inducer of lymphocyte apoptosis, plays a critical role in cellular pathways of immune homeostasis and immunologic tolerance. Inherited and acquired defects in the Fas gene, TNFRSF6 (tumor necrosis factor receptor superfamily member 6) have been associated with human autoimmune lymphoproliferative syndrome (ALPS) and a spectrum of other complex autoimmune diseases and malignancies. In addition to over 60 deleterious mutations associated with dominant inhibitory defects or null mutations of TNFRSF6, several sequence variants have been noted. To facilitate interpretation of genotypes of this important locus, we sequenced DNA from unrelated, healthy Caucasians and African Americans. Two new and 12 previously recorded SNPs were confirmed, and their allele frequencies were determined. We also investigated haplotype frequencies and linkage disequilibrium (LD) coefficients for these SNPs in Caucasians. Four TNFRSF6 SNP pairs were found to be in strong LD. The TNRFSF6 SNPs are useful for linkage and loss of heterozygosity studies probing the role of Fas-mediated apoptosis in autoimmune diseases and malignancies.

Black or African American↗

PubMed1979

Epidemic mechanisms of type A influenza.

The antigenic varieties of influenza A virus isolated from 1968 to 1976 in a surveillance of a small, rather remote population were similar to those from England and Wales as a whole, despite frequent antigenic changes during the period. Household studies in the first two H3N2 influenza A epidemics found low attack rates within households, a high proportion (70%) of affected households with only one case of influenza, similar distributions of affected households in the two epidemics by the number of cases of influenza and similar distributions of the influenza cases by the day of their onset in the household outbreak. No serial interval could be demonstrated by cumulating household outbreaks. More than one minor variant was causing influenza contemporaneously in the same villages in several seasons, and different variants were on one occasion found on successive days in bedfellows. The regular occurrence of epidemics in winter was often accompanied by the disappearance of the epidemic variants and their replacement, after a virus-free interval, by new variants. These epidemiological findings seem best interpreted on the following tentative hypothesis. Influenza A sufferers do not transmit the virus during their illness; instead it rapidly becomes latent in their tissues so that they become symptomless carrier-hosts and develop specific immunity. Next season an extraneous seasonally mediated stimulus reactivates the latent virus residues so that the carrier-host becomes briefly infectious, though symptomless. Antigenic drift occurs because particles reconstituted to be identical with the progenitor virus cannot escape the specific immunity it has provoked in the carrier host. He can shed only mutants also determined by the progenitor virus. From the assortment of mutants shed by the carrier-host, his non-immune companions select that (those) which is best fitted to survive, and it rapidly causes influenzal illness. Epidemics consist largely or entirely of such persons sick with influenza caused by reactivated virus caught from symptomless carrier-hosts.

Antigens, Viral↗

PubMed1999

Influence of estrogen receptor variants on the determination of ER status in human breast cancer.

Determination of estrogen receptor alpha (ER) status in breast cancer is an important predictive factor for clinical response to endocrine therapy. We have recently shown that discrepancies in ER status determined by immunohistochemical assay (ER-IHA) can occur between amino-terminal (1D5) and carboxyl-terminal (AER-311) targeted ER antibodies and that those tumors which demonstrate discordance are associated with increased expression of truncated ER variant mRNAs. In this study, we have explored this observation to examine if ER variant expression can exert a direct effect on ER-IHA or whether this association is attributable to the characteristics of the antibodies. ER negative cos-1 cells were transfected with expression vectors containing wild type ER (wt-ER) and/or a frequently expressed truncated variant, ER-clone-4 variant. We found that ER-IHA performed with the same N- and C-terminal targeting ER antibodies on cos-1 cells expressing wt-ER alone demonstrated no difference in signals by western blot (P > 0.1). However, co-expression of wt-ER and the truncated ER-clone-4 variant, resulted in discordant IHA results with relatively higher ER-IHA H-scores from N-terminal antibodies (P < 0.03). Furthermore, re-examination of a subset of breast tumors previously studied by ER-IHA showed persistent concordance in 4/5 cases and persistent differences in 3/5 cases with a different pair of ER antibodies. We conclude that the presence of truncated ER variant proteins can interfere with the interpretation of ER status determined by IHA and that this may account for some of the inconsistencies between ER status and response to endocrine therapy.

Antibodies, Neoplasm↗

PubMed2004

A six-factor structure of personality-descriptive adjectives: solutions from psycholexical studies in seven languages.

Standard psycholexical studies of personality structure have produced a similar 6-factor solution in 7 languages (Dutch, French, German, Hungarian, Italian, Korean, Polish). The authors report the content of these personality dimensions and interpret them as follows: (a) a variant of Extraversion, defined by sociability and liveliness (though not by bravery and toughness); (b) a variant of Agreeableness, defined by gentleness, patience, and agreeableness (but also including anger and ill temper at its negative pole); (c) Conscientiousness (emphasizing organization and discipline rather than moral conscience); (d) Emotionality (containing anxiety, vulnerability, sentimentality, lack of bravery, and lack of toughness, but not anger or ill temper); (e) Honesty-Humility; (f) Intellect/Imagination/Unconventionality. A potential reorganization of the Big Five factor structure is discussed.

Factor Analysis, Statistical↗

PubMed1998

An activated Rac mutant functions as a dominant negative for membrane ruffling.

Previous studies have shown that point mutations in the effector domain of Rac1 block specific downstream pathways such as PAK, JNK/SAPK kinases and membrane ruffling. Specifically, the F37A mutation, made in a constitutively activated Q61L background, activates PAK but fails to induce membrane ruffles. We now show that Q61L/F37A Rac not only fails to induce ruffling but potently blocks membrane ruffling induced by serum or PDGF. In the presence of serum, cells do extend filopodia, suggesting that this mutant only blocks a subset of the effectors that induce cytoskeletal reorganization. At later times, this rac mutant induces membrane blebbing, but not apoptosis. These results show that Q61L/F37A Rac, is constitutively activated with respect to PAK activation but functions as a dominant negative for another pathway, membrane ruffling. That an effector domain point mutant can simultaneously function as a dominant negative and dominant positive for different pathways implies that effects of these variants on cell functions must be interpreted with caution.

3T3 Cells↗

PubMed1979

A variant of intestinal metaplasia associated with gastric carcinoma: a histochemical study.

Gastrectomy specimens including 32 cases of carcinoma and 35 cases of peptic ulcer were examined in detail histologically and histochemically to show the distribution of intestinal metaplasia (IM) and types of mucin secreted. A variant of IM, with extensive involvement of both antrum and body and excessive secretion of sulphomucin, was found to be associated with carcinomas showing appreciable extracellular sulphomucin secretion. The identification of such a variant of IM may help the interpretation of gastric biopsies.

Carcinoma↗

PubMed1996

White fibrous papulosis of the neck in three Sicilian patients.

Three patients, two females and one male, presented with white fibrous papulosis of the neck. This condition is characteristically located on both sides of the neck; however, it also appears on the upper sternal region, with a necklace-like configuration, in the two female patients, aged 72 and 78 years, respectively. A differential diagnosis was carried out with respect to other dermatoses that show a similar skin aspect, and to the pseudo-xanthoma elasticum-like papillary dermal elastolysis. This is because this condition, as well as fibrous papulosis, can be interpreted as a clinical-histological variant of the same process of cutaneous ageing. However, environmental factors can play a role in the aetiopathogenesis of fibrous papulosis in the Sicilian population.

Aged↗

PubMed1993

Problems and pitfalls in the echocardiographic assessment of pericardial effusion.

The echocardiographic diagnosis of pericardial effusions is usually based on visualization of a sonolucent circumcardiac space of varying width. However, potential fallacies in interpretation can arise if sonolucent spaces adjacent to the heart (pleural effusions, ascites, pericardial cysts) are mistaken for pericardial effusions. Loculated pericardial effusions, especially if unusual in location or configuration, can cause diagnostic difficulty on occasion. The differential diagnosis of various "solid" echoes within a pericardial effusion is of clinical relevance, yet not widely discussed. Inflammatory tissue, neoplastic involvement, pus, caseous material, and extravasated blood all have characteristic echocardiographic morphologies. All of the various reported echocardiographic signs of tamponade do not have the same significance, so that caution is necessary not to over- or under-read tamponade. Chamber collapse can be absent in real tamponade in specific situations. On the other hand, "regional" tamponade can occur if loculated pericardial effusions are sufficiently large and high tension; echocardiographic appearances are "atypical" but diagnostically valuable if correctly interpreted. These and certain other unusual variants of tamponade deserve to be better known among echocardiographers not only because of their intrinsic interest, but also to avoid potential pitfalls in the echocardiographic assessment of patients with suspected disease.

Cardiac Tamponade↗

PubMed1991

The three major immediate-early transcripts of bovine herpesvirus 1 arise from two divergent and spliced transcription units.

Among 54 transcripts expressed in a temporal cascade during lytic infection with bovine herpesvirus 1, we have previously identified three major immediate-early (IE) RNAs, IER4.2 (4.2 kb), IER2.9 (2.9 kb), and IER1.7 (1.6 to 1.8 kb depending on the virus strain) transcribed from the HindIII C genome region (U. V. Wirth, K. Gunkel, M. Engels, and M. Schwyzer, J. Virol. 63:4882-4889, 1989). Northern (RNA) blot, S1 nuclease protection, and primer extension analysis used in the present study demonstrated that all three IE transcripts were spliced and originated from two divergent transcription units with start sites located in the inverted repeat. Transcription unit 1 encoded two alternative spliced transcripts, IER4.2 and IER2.9, with a common exon 1 located at 0.797 to 0.795 map units (m.u.) and an exon 2 for IER4.2 (0.792 to 0.762 m.u.) in the inverted repeat; exon 2 for IER2.9 (0.754 to 0.738 m.u.) was located in the unique long sequence and transcribed in antisense orientation to latency-related RNA. Transcription unit 2 (0.818 to 0.836 m.u.), further characterized by cDNA cloning, encoded the spliced IER1.7 with three exons in the inverted repeat. Additional minor IE transcripts were interpreted as unspliced precursors and splicing variants. With regard to the number and layout of IE genes, bovine herpesvirus 1 occupies an intermediate position between pseudorabies virus and equine herpesvirus 1 on the one hand and varicella-zoster virus and herpes simplex virus type 1 on the other.

Animals↗

PubMed1996

Virulence as a positive trait in viral persistence.

A population replacement experiment has been devised to test the ability of a challenge virus to replace the resident virus in a persistently infected cell culture. BHK-21 cells persistently infected with foot-and-mouth disease virus of serotype C (clone C-S8c1) were challenged with a large excess of either the parental foot-and-mouth disease virus C-S8c1, genetically marked variants differing in their degree of virulence, or a mutant rescued after prolonged persistence in BHK-21 cells. After challenge, the composition of the resident virus population in the carrier culture was analyzed by reverse transcription-PCR amplification and nucleotide sequencing. The dominance of the initial persisting virus was seen in all cases, except when virulent viruses were used in the challenge. The experiments document that, paradoxically, virulence can be a positive factor in the reestablishment of a virus population in a persistently infected cell culture. A model based on the selection of virus-resistant cell variants during persistence is proposed to interpret these observations. Implications about the persistence of viruses in their host cells and organisms are discussed.

Animals↗