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At least 631 records · Page 35Linked to original sources
PubMed1986

[Immunohistochemical research on human breast tumors using monoclonal antibodies to intermediate filament proteins. Cancer of the breast].

Immunomorphologic study of 29 breast cancer cases using monoclonal antibodies to proteins of intermediate filaments shown to differentiate the lining epithelium from myoepithelium in the non-proliferating epithelial structures of the mamma, has shown the cells in the majority of tumours (according to the International WHO Classification defined as infiltrating ductal, lobular, and tubular cancer forms) to contain prekeratin (PK) C12, specific for normal lining epithelium, but not for the myoepithelium. In cases of cancer with chondroid metaplasia (a malignant variant of the so-called "mixed tumour") the cells contained PK E3, vimentin and structural myosin, normally specific for myoepithelium. The cell heterogenicity in PK C12 content or its absence noted in the infiltrating cancers with predominance of a solid component can indicate a high degree of tumour anaplasia. It is concluded that usage of monoclonal antibodies to PK C12, invariably found in the cells of fibrotic invasion foci, can be a useful indicator for early diagnosis of infiltrative tumour growth.

Antibodies, Monoclonal↗
PubMed1978

Bisalbuminemia. A new molecular variant, albumin Vancouver.

Of 18 members of a Fiji Indian family investigated, eight of the 12 males and two of the six females had an electrophoretically slow-type bisalbuminemia (alloalbuminemia). The albumin was characterized by the hiterto unique ratio of the two bands (Al A 35%: variant 65%), and by dye-binding studies and electrophoretic mobility in different media. The data suggest that this is a new variant, which we propose to call albumin Vancouver (Al Va).

Adolescent↗
PubMed1980

Daughter cell fusion and formation of polykaryons in a cold-resistant (CR) L cell variant.

A cold-resistant (cr) variant of mouse L fibroblasts called LC3, isolated by repeated cooling of the parent population for several weeks at 4 degrees C, differed from the wild-type cells in morphology and function. Microcinematographic records demonstrate that their motility is markedly reduced when compared with that of the L cells. They enter mitosis at 30 degrees C, at 37 degrees C and at 39 degrees C, but they finish cytodieresis only at 30 degrees C. At the higher temperatures, they reach anaphase, but then the daughter cells fuse and form polykaryons. At 39 degrees C, bizarre forms with large undulating membranes predominate in the damaged population. The cr cells may be used as a model for the study of temperature adaptations on cellular level, as well as for the analysis of the relations between membrane properties, cold resistance and cell cycle control.

Animals↗
PubMed1980

[Structure and biological properties of immunoglobulins and gamma-globulin preparations. I. Structure and function of immunoglobulins].

Antibodies serve two different functions: they bind antigens and mediate a series of other functions party as a consequence of antigen binding. These functions are usually termed effector functions. This functional dualism is reflected in the structural arrangement of the immunoglobulin molecules, the basic structure of which consists of 4 polypeptide chains: 2 identical light chains (molecular weight 22 000--23 000) and 2 identical heavy chains (molecular weight 50 000--70 000). These polypeptide chains may be divided into compact globular regions, which are called domains and have different biological functions. The domains which are involved in antigen binding consist of the 110--120 aminoterminal amino acid residues of heavy and light chains. The amino acid sequence within these domains differs from one immunoglobulin molecule to another, and for this reason they are designated variable domains. The remaining domains are of substantially the same structure within groups of immunoglobulins and are therefore called constant domains. The structural variants within the constant domains of the heavy chains are termed classes and subclasses, and those of the light chains, types. The constant domains of the heavy chains mediate the effector functions of the immunoglobulin molecules. This structural division into a variable and a constant part allows the combination of a great number of different antigen binding specifities with a series of different effector functions.

Humans↗
PubMed1995

Maisonneuve fracture with an associated distal fibular fracture. A case report.

A 46-year-old woman had a severe torsional injury to her left leg. Admission radiographs showed a proximal Maisonneuve-type fibular fracture with an associated distal fibular fracture at the level of the distal tibiofibular syndesmosis. A complete syndesmotic disruption, proximal and distal to the distal fibular fracture, was verified at surgical exploration as was a complete deltoid ligament tear. Management consisted of internal fixation of the distal fibular fracture and placement of a syndesmotic screw. At 1-year followup, the patient reported normal ankle function. This case represents an unusual, and perhaps previously undescribed, variant of the so-called Maisonneuve fracture. The need for careful evaluation of the entire leg in torsional injuries of the ankle is underscored by the injury presented.

Ankle Injuries↗
PubMed1993

BM2L is a spontaneous leukemogenic variant of a non-leukemogenic v-myb-transformed myeloid cell line.

Leukemogenesis is a complex process involving an accumulation of genetic lesions affecting both growth and differentiation in cells of the hematopoietic lineage. Our laboratory has established a non-producer v-myb-transformed cell line (BM2/C3A) which, when injected into the chicken embryo, does not produce leukemia. Recently, a spontaneous variant of this cell line, called BM2L, was obtained from in vivo experiments. BM2L produces an acute monoblastic leukemia when injected into the chicken embryo. BM2L cells do not differentiate in vivo or in vitro, but continue to proliferate under conditions in culture that allow for the differentiation of BM2/C3A cells into macrophages. In addition, BM2L cells have reduced requirements for exogenous growth factors. BM2L cells contain the v-myb allele and express v-Myb protein, but leukemogenicity does not involve point mutations in v-myb. The BM2 model, consisting of two non-producer cell lines differing in vivo in their leukemogenicity, provides a novel system for identifying genes that play a role in the induction or suppression of leukemogenesis.

Alleles↗
PubMed1995

"Pseudoneoplastic" leprosy. Leprosy revisited.

A 70-year-old Italian man with a history of squamous cell carcinoma of the lung presented with a nodular skin eruption. He had traveled extensively in India and Sri Lanka. The nodules were well demarcated and measured up to 3.5 cm in diameter. Histologically, there was a proliferation of spindled and polygonal cells with focal and relatively inconspicuous cytoplasmic vacuolation. A macrophage-monocyte lineage for the cells was confirmed by paraffin section immunohistochemistry, using the monoclonal antibodies anti-CD45, MAC-387, KP-1, UCHL-1, MT-1, L26, and MB2. Infiltrating borders, extension of the lesion into the subcutis, and involvement of small dermal nerves and eccrine glands initially suggested the possibility of a "histiocytic" neoplasm of indeterminate biological potential. However, air-dried and Giemsa-stained material from a fine-needle aspirate of one cutaneous nodule showed needle-shaped intracellular "negative images," and acid-fast stains revealed a large number of intracytoplasmic bacilli in virtually all of the vacuolated lesional cells. Furthermore, a second skin nodule that was excised 3 weeks after initial presentation showed the typical morphology of lepromatous leprosy. The clinicopathologic features of this case demonstrated several similarities with those of so-called "histoid" leprosy. Unusual morphologic variants of leprosy need to be considered in the interpretation of unusual "histiocytic" infiltrates in order to avoid a mistaken diagnosis of neoplasia, regardless of the geographic locale in which the patient is evaluated.

Aged↗
PubMed1976

[Vater or Vacterl syndrome (author's transl)].

Analysis of malformations in 65 newborns with limb anomalies, 39 with esophageal atresia with tracheoesophageal fistula, and 41 with anal atresia confirmed the nonrandom tendency for the defects of the VATER or VACTERL syndrome to associate together. 11 new patients with 4 or more of these anomalies were compared with 41 previously reported cases. There was good agreement with reference to the frequency of the major malformations noted in the VACTERL association. While anal atresia was not so common in our patients, cardiac anomalies and radial limb dysplasia occurred somewhat more frequently. In accordance with previous findings we also emphasize a single umbilical artery as one of the malformations in the spectrum of the VACTERL association (V = vertebral defects and vascular anomalies). Because of the high incidence of rib anomalies in our patients and in earlier cases with complete medical records it is suggested that the scope of the VACTERL association should be enlarged by this malformation. Thus the R in VACTERL would stand not only for renal defects but als for rib anomalies. Furthermore, the spectrum of anomalies could be extended by auricular defects (A = anal atresia and auricular defects). When one of these VACTERL components is found attention should be drawn to the possibility of the presence of the other associated anomalies. The developmentally correlated malformations seen in the VACTERL syndrome are generally sporadically observed. At the present time the etiology is unknown but heterogeneity is suggested. Although a causal relationship between maternal intake of progesteron/estrogen during the vulnerable period of embryogenesis and the VACTERL syndrome has been suggested, none of the mothers of our patients were exposed to these hormones during early pregnancy. Cytogenetic investigation in one patient and his mother showed a so-called marker chromosome 9 (C9qh+ variant) which is difficult to interpret at the present time.

Abnormalities, Multiple↗
PubMed2025

Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia.

In studies of individuals of primarily European genetic ancestry, common and low-frequency variants and rare coding variants have been found to be associated with the risk of bipolar disorder (BD) and schizophrenia (SZ). However, less is known for individuals of other genetic ancestries or the role of rare non-coding variants in BD and SZ risk. We performed whole genome sequencing of African American individuals: 1,598 with BD, 3,295 with SZ, and 2,651 unaffected controls (InPSYght study). We increased power by incorporating 14,812 jointly called psychiatrically unscreened ancestry-matched controls from the Trans-Omics for Precision Medicine (TOPMed) Program for a total of 17,463 controls. To identify variants and sets of variants associated with BD and/or SZ, we performed single-variant tests, gene-based tests for singleton protein truncating variants, and rare and low-frequency variant annotation-based tests with conservation and universal chromatin states and sliding windows. We found suggestive evidence of BD association with single-variants on chromosome 18 and of lower BD risk associated with rare and low-frequency variants on chromosome 11 in a region with multiple BD GWAS loci, using a sliding window approach. We also found that chromatin and conservation state tests can be used to detect differential calling of variants in controls sequenced at different centers and to assess the effectiveness of sequencing metric covariate adjustments. Our findings reinforce the need for continued whole genome sequencing in additional samples of African American individuals and more comprehensive functional annotation of non-coding variants.

Journal Article↗
PubMed2005

Variability and evolution of bovine beta-defensin genes.

Defensins comprise an important family of antimicrobial peptides. Among vertebrates numerous defensin genes have been detected, but their evolutionary background is still discussed. We investigated the molecular evolution of bovine defensins via screening of different bovine species including the extinct ancestor of domestic cattle (Bos primigenius) for beta-defensin encoding genes. We detected a large variability of new defensin encoding sequences similar to previously published bovine neutrophil beta-defensin (bnbd), neutrophil beta-defensin 12 (nbd12), enteric beta-defensin (ebd), lingual antimicrobial peptide (lap), and tracheal antimicrobial peptide (tap). Our data suggest that variants of the same so-called subfamily (tap, lap, ebd, and nbd12) each share a common ancestry independent of their species origin, implicating several duplication events of tap, lap, ebd, and nbd12 before the different bovine lineages diverged. Variants of bovine neutrophil beta-defensins bnbd5 and bnbd9 were detected exclusively in domestic cattle and aurochs. Values of synonymous and nonsynonymous substitutions demonstrated lap, bnbd5, bnbd9 and nbd12 evolving under positive selection, whereas amino-acid altering substitutions among variants of ebd and tap are purified. Comparison of the amino-acid sequences with available structures of human and murine defensins suggested conservation of the typical secondary elements of defensins in the absence of high sequence similarity.

Animals↗
PubMed1995

Equal levels of gp120 retention and neutralization resistance of phenotypically distinct primary human immunodeficiency virus type 1 variants upon soluble CD4 treatment.

Human immunodeficiency virus type 1 (HIV-1) variants passaged in T-cell lines, often called laboratory isolates, are potently neutralized by soluble CD4 (sCD4), whereas primary HIV-1 variants are highly resistant to sCD4 neutralization. Previously, it was demonstrated that the domain from V1 to V3 of the HIV-1 gp120 molecule contains one of the major determinants of sCD4 neutralization sensitivity, and the same region has also been implicated as influencing syncytium-inducing (SI) capacity and T-cell-line tropism. To determine possible differences in sCD4 neutralization sensitivity between phenotypically distinct primary HIV-1 variants, a panel of non-syncytium-inducing (NSI) and SI HIV-1 variants was studied. Primary NSI and SI HIV-1 variants appeared to be equally resistant to sCD4 neutralization. Consistent with this observation, sCD4 did not induce gp120 shedding from either primary NSI or SI HIV-1 variants at 37 degrees C. Thus, it is not the potential of certain primary HIV-1 variants to infect T-cell lines but rather their adaptation to T-cell lines that is reflected in specific properties of the viral envelope which influence sCD4 neutralization sensitivity.

Antiviral Agents↗
PubMed1995

[Pre-myopathic versus amyopathic dermatomyositis. 2 personal cases and review of the literature].

The so-called amyopathic dermatomyositis is a rare variant of dermatomyositis which has attracted increasing interest during the last years. One finds the classical signs of dermatomyositis such as periorbital edema and erythema, erythematous macular and papular lesions localized at bony prominences (so-called Gottron's papules), generalized pruritus, photosensitivity, and a cutaneous histopathologic picture compatible with skin lesions of dermatomyositis. Crucial for the diagnosis is the exclusion of myositis by clinical examination, EMG and histology. Furthermore, longterm supervision of patients is advisable in order not to miss the appearance of early signs of myositis. The longest reported follow-up of amyopathic dermatomyositis patient is 4 years; however, it cannot be excluded that these cases will eventually culminate in classical dermatomyositis. In this paper we describe two cases and discuss the differential diagnosis and therapy; also, the term "Premyopathic dermatomyositis" is proposed, to indicate that the full picture is to be expected in most cases.

Adult↗
PubMed2001

The role of ERG (ets related gene) in cartilage development.

OBJECTIVE: Based on function and developmental fate, cartilage tissue can be broadly classified into two types: transient (embryonic or growth-plate) cartilage and permanent cartilage. Chondrocytes in transient cartilage undergo terminal differentiation into hypertrophic cells, induce cartilage-matrix mineralization, and eventually disappear and are replaced by bone. On the other hand, chondrocytes in permanent cartilage do not differentiate further, do not become hypertrophic, and persist throughout life at specific sites, including joints and tracheal rings. While many studies have described differences in structure, matrix composition and biological characteristics between permanent and transient cartilage, it is poorly understood how the fates of permanent and transient cartilage are determined. Previous studies demonstrated that chondrocytes isolated from permanent cartilage have the potential to express markers of the mature hypertrophic phenotype once grown in culture, suggesting that cell hypertrophy is an intrinsic property of all chondrocytes and must be actively silenced in permanent cartilage in vivo. These silencing mechanisms, however, are largely unknown. In this paper, we first review nature of chondrocytes in transient and permanent cartilages and then report the cloning and characterization of a novel variant of ets transcription factor chERG, hereafter called C-1-1, which might be involved in regulation of permanent cartilage development. DESIGN: For cloning of a novel variant of chERG (C-1-1), we isolated RNA from the cartilaginous femur or tibiotarsus of Day 17 chick embryos and processed it for reverse transcription-polymerase chain reaction (RT-PCR) with the primers from sequences upstream and downstream of the 81 and 72 bp segments alternatively-spliced in mammals. For investigation of function of chERG and C-1-1, we over-expressed chERG or C-1-1 in cultured chick chondrocytes or the developing limb of chick embryo using a retrovirus (RCAS) system, and examined the phenotype changes in the infected chondrocytes or the infected limb elements. RESULTS: C-1-1 is an alternative and novel variant lacking the 27 amino acids segment of chERG that has been reported previously. C-1-1 is preferentially expressed in developing articular cartilage, whereas chERG is preferentially expressed in growth plate cartilage. Growth of articular chondrocytes in culture was accompanied by decreasing C-1-1 expression after several passages, while expression of hypertrophic markers increased. Expression of C-1-1 in cultured chondrocytes inhibited cell hypertrophy, alkaline phosphatase activity, and cartilage matrix mineralization. In contrast, over-expression of chERG promoted chondrocyte maturation and mineralization. CONCLUSION: Our data demonstrate for the first time that chERG and C-1-1 play distinct roles in skeletogenesis and may have crucial roles in the development and function of transient and permanent cartilages.

Animals↗
PubMed1995

[Hepatocellular nodular hyperplasias, adenomas and carcinomas].

Nodular hyperplasias ("hyperplasiomas") are new formations whose development as a required and regulated response can be traced either to compensatory reactions to the loss of cells (regeneration in a narrow sense) and to decreased cellular performance, or to primary growth impulses. Included in this group are: the "macroregenerative nodules" after extensive cell losses; solitary nodules of uncertain etiology; and the minute foci of "micronodular transformation" whose origin can be traced to a particular disturbance of the hepatic blood supply. The so-called "adenomatous hyperplasias" of the cirrhotic liver that have a tendency towards carcinomatous change are not included in this group and are perhaps better considered as "hyperplasiogenic adenomas". The so-called "focal nodular hyperplasia" too, it must be stressed, should be separated from the simple hyperplasias, for it is more closely related to the adenomas, but represents a new formation of limited growth potential. Morphologically it is conspicuously subdivided by multiple connective tissue bands and scars, but it is above all characterized by metaplastically derived neoductuli, and hence it is appropriately designated as a "combined nodule". Among the true uninodular adenomas there are several variants differing in their morphology,--the so-called "atypical" or "intermediate" forms, that can give rise to carcinomas. The hepatocellular carcinoma, that may arise in a variety of ways, presents multiple cytological and histological variants, but only the so-called "fibrolamellar carcinoma" presents also a clinical peculiarity. "Hepatoblastomas" differ from the common hepatocellular carcinomas by their origin in early childhood from immature early precursor cells and, in the later phases of life, from redifferentiated cells that can even give rise to mesenchymal elements. There is no evidence of the existence of particular pluripotential stem cells.

Adenoma↗
PubMed2003

Structure and positioning comparison of two variants of penetratin in two different membrane mimicking systems by NMR.

The Antennapedia homeodomain protein of Drosophila has the ability to penetrate biological membranes and the third helix of this protein, residues 43-58, known as penetratin (RQIKIWFQNRRMKWKK-amide) has the same translocating properties as the entire protein. The variant, RQI KIFFQNRRMKFKK-amide, here called penetratin (W48F,W56F) does not have the same ability. We have determined a solution structure of penetratin and investigated the position of both peptides in negatively charged bicelles. A helical structure is seen for residues Lys46 through Met54. The secondary structure of the variant penetratin(W48F,W56F) in bicelles appears to be very similar. Paramagnetic spin-label studies and analysis of NOEs between penetratin and the phospholipids show that penetratin is located within the bicelle surface. Penetratin (W48F,W56F) is also located inside the phospholipid bicelle, however, with its N-terminus more deeply inserted than that of wild-type penetratin. The subtle differences in the way the two peptides interact with a membrane in an equilibrium situation could be important for their translocating ability. As a comparison we have also investigated the secondary structure of penetratin(W48F,W56F) in SDS micelles and the results show that the structure is very similar in SDS and bicelles. In contrast, penetratin(W48F,W56F) and penetratin appear to be located differently in SDS micelles. This clearly shows the importance of using realistic membrane mimetics for investigating peptide-membrane interactions.

Amino Acid Sequence↗
PubMed1997

Cutaneous T-cell lymphoma with Sézary syndrome in a dog.

An 8-year-old female spayed Cocker Spaniel mix breed dog was presented with generalized erythroderma, scaling and alopecia. Radiographs of the thorax demonstrated a discrete lung mass which was aspirated using ultrasound guidance and cytological analysis revealed large abnormal lymphocytes. Similar cells were observed in the peripheral blood and in skin biopsies. The cells in the skin biopsies were epidermotropic, indicative of an uncommon cutaneous lymphoma termed cutaneous T cell lymphoma (CTCL), sometimes also called mycosis fungoides. Immunohistochemical staining of a skin biopsy was positive for the CD3 antigen demonstrating that the lymphocyte infiltrate was of a T-cell lineage. The presence of neoplastic lymphocytes in the epidermis and peripheral blood indicate that this is a rare variant of Cutaneous Epidermotropic Lymphoma (CEL) called Sézary syndrome based on nomenclature used in the human literature. An unusual feature of this dog, not seen in previous cases, was the presence of a discrete neoplastic lung mass.

Journal Article↗
PubMed1976

Human alcohol dehydrogenase ADH1, ADH2 and ADH3 loci in a mixed population of Bahia, Brazil.

1. The three structural gene loci of human alcohol dehydrogenase have been studied in liver, jejunum and lung from 300 newborns in a triracially mixed population of Bahia, Brazil. 2. The frequency of the ADH23 allele was 0-1392, suggesting that the ADH23 allele is less frequent in Negroes. 3. A new ADH2 variant was identified. The electrophoretic pattern was interpreted as due to a new allele which is provisionally called ADH2Bahia. 4. By electrophoretic classification the 'atypical' variant was found in 2-8% of the sample. A question is raised regarding the ancestral origin of the 'atypical' variant in the population. Because this variant is common in Japanese it may have reached the present day population of Bahia through their American Indian ancestors. 5. Subjective estimation of the proportions of beta chains by giving scores to the liver isozymes alphaalpha, alphabeta and betabeta showed a clear relationship between the fetal weight and the beta chain activity. 6. The proportion of beta chains in the liver is significantly less when there is no enzyme activity in the lung, indicating some synchronous 'turning on' mechanism for alcohol dehydrogenase synthesis in both tissues.

Alcohol Oxidoreductases↗
PubMed1984

Different synovial fluid fibronectin levels in rheumatoid variants.

A circulating high-molecular-weight glycoprotein called fibronectin plays a part in cell adhesion and migration before phagocytosis and in morphology, differentiation, and metabolism in inflammatory synovial effusions of patients with rheumatic diseases. A technique of nephelometric immunoassay, based on the measurement of an antigen-antibody reaction, was applied to the analysis of fibronectin concentrations in synovial fluids from 20 patients with rheumatoid arthritis (RA) and other diseases (non-RA). RA synovial fluids have a significantly higher concentration than the specimens obtained from Yersinia arthritis patients (n = 12). The mean concentration of other synovial fluids, from 12 patients with osteoarthritis of the knees, did not significantly differ from the synovial fluids of control values obtained from patients who underwent meniscectomy. There was a considerably negative correlation between fibronectin levels and overall indices of inflammatory activity, such as Ritchie articular indices or a whole number of painful rheumatoid arthritis joints. However, a particularly distinct correlation was obtained when raised fibronectin levels were compared with the inflammatory activity of the knee joint, from which the specimen was aspirated. Thus, these findings suggest that the measurements of fibronectin in synovial fluid may be of some differential-diagnostic value in rheumatoid variants, but may only serve as an indicator of inflammatory activity if the joint, from which the specimen is obtained, is taken into account.

Adult↗