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At least 181 records · Page 10Linked to original sources

[Surgical treatment of nonspecific aorto-arteritis].

The authors analyse experience with 273 operations carried out in 273 patients; 107 operations were conducted on the branches of the aortic arch, 136 were performed for the "middle aorta syndrome", and 30 operations were performed in affections of the terminal aorta and the iliac arteries. Experience is also shown in operative treatment of 32 patients with coexistent affections of the "middle aorta" and the branches of the aortic arch, the surgical tactics and the sequence of operations in this type of pathology are discussed. Problems dealing with the classification of nonspecific aorto-aortitis (NAA) are discussed, and the authors' classification of the variants of the vascular manifestations of the process is suggested. The authors draw attention to the need for preoperative management of patients with UAA for correcting the activity of the inflammatory process. Hemosorption and immunocorrective therapy are suggested for this purpose. Means for improving the results of surgical treatment of patients with UAA are suggested. The total mortality was 13%.

Adult↗

[The indications for and sequence of vitrectomy and scleroplastic operations in posttraumatic retinal detachment and vitreous body pathology (1)].

The paper presents a clinical analysis of surgical treatment of 378 patients (426 operations) with posttraumatic retinal detachment. A broadened variant of a classification of traumatic retinal detachment signs in associated pathology of the retina and vitreous body is proposed. Recommendations are worked out concerning the approach of surgical treatment of traumatic detachment with determination of indications and the sequence of vitrectomy and scleroplastic operations. It is advisable to assess the effectiveness of surgical intervention in this pathology in more delayed terms.

Adolescent↗

Cytologic diagnosis of the acute nonlymphoid leukemias. II. Flow cytometry, surface markers, cytogenetics, and use of cell culture techniques.

Part I of this two-part article discussed the use of morphologic, histochemical, and ultrastructural studies for the diagnosis and classification of ANLL variants of acute nonlymphoid leukemia. However, a small proportion of acute leukemias are not amenable to definition by these techniques and have, in the past, been classified as acute undifferentiated leukemias. The use of supplemental techniques such as flow cytometry, surface marker analysis, cytogenetics, and in vitro growth patterns will often identify the correct cellular lineage for these cases.

Acute Disease↗

[Anthropometric and topographic characteristics of the gallbladder in cholecystitis].

Anthropometric studies were carried out upon 228 patients with cholecystitis, and the findings were compared to those obtained in the control group. The location of the liver anterior margin, projection of the gall-bladder fundus, the upper point of the gall-bladder, the site of the fusion of the cystic duct and the hepaticocholedochus versus the spine and the costal arch margin were studied in 174 patients. On the grounds of these studies a classification embracing 9 variants of the gall-bladder position has been suggested together with some variants of oblique incision in the right subcostal region with regard to the individual topography of the gall-bladder.

Adult↗

[Dementia--where are we today?].

A review for the non-specialist. The proportion of dementia of different types varies in different investigations, illustrating the difficulty of classification. Recently genetic variants of amyloid precursor protein and apolipoprotein E have been found in some of the families with familial Alzheimer's disease. Cortical Lewy body disease and frontotemporal dementia have been described recently, indicating that Alzheimer's disease comprises more diseases. When diagnosing dementia, it is important to identify confusions, depressions, the vascular dementias and the potentially reversible ones. The treatment may include reducing drug therapy, prophylactic treatment of thromboembolic or hypertensive disease, care, information to the family and carers, and sometimes drug treatment for psychiatric symptoms. In the near future effective treatment of some of the primary degenerative dementias may become possible. It will then be necessary to make a more specified diagnosis at an early stage.

Aged↗

[Aortic dissection: new diagnostic and therapeutic trends].

The aortic dissection is a relatively infrequent, but very serious event, that needs to be always considered when a thoracic pain with symptoms of ischemia belongs to the origin of the dissection without signs of myocardial infarction. The most simple and commonly accepted classification, includes two variants, according to the Stanford University (A and B). This aspect is very important in order to the treatment which must be preceded by a suitable pharmacological approach followed in any case by the surgery. We outline the importance of the fast diagnostic knowledge and of the therapeutic choice in order to reduce the mortality that is still very high.

Aortic Dissection↗

[A contribution on the manifestations of wegener's granulomatosis (author's transl)].

To facilitate the clinical understanding of Wegener's granulomatosis, the morphological changes involved are discussed. Such changes may be found in the entire respiratory tract or may be limited to either the upper or the lower respiratory tract with varying severity. When confronted with the nasopharyngeal course of the disease, the ENT specialist should realize that nasal and pulmonary variants can coexist. Classifications such as Granuloma gangraenescens, lethal midline granuloma or midline granuloma stress localized processes and fail to associate possible pulmonary involvement or manifestation in other organs. Such descriptions are therefore unsuitable for an understanding of the disease.

Adult↗

Hepatitis C virus variants from Nepal with novel genotypes and their classification into the third major group.

Five isolates of hepatitis C virus (HCV) RNA from patients with chronic liver disease in Nepal were not classifiable into the known genotypes I/1a, II/1b, III/2a, IV/2b or V/3a using PCR with type-specific primers deduced from the HCV core gene. Their nucleotide sequences were determined for the 5'-terminal 1.5 kilobases and 3'-terminal 1.2 kilobases, covering 30% of the entire genome, and compared with each other and with reported sequences of HCV isolates of various genotypes. They were more similar to a reported HCV isolate (NZL1) of genotype V/3a (in 81.6 to 84.1% of their nucleotides and 85.7 to 88.7% of the deduced amino acid sequence) compared with the genotypes I/1a to IV/2b (in 69.3 to 74.7% and 72.3 to 77.4%, respectively). Hence they were considered to be variants of the third major group (group 3). The five HCV isolates shared 81.3 to 85.2% of nucleotide sequence and 85.4 to 89.3% of deduced amino acid sequence. Thus they were substantially different from each other. One of them was classified as genotype VI/3b due to an 88.2% similarity in nucleotide sequence to that of the reported HCV isolates of this genotype, whereas the remaining four were classified into provisional genotypes 3c, 3d, 3e and 3f. These HCV variants have evolved and remained in Nepal, and have not been observed in the other areas of the world.

Amino Acid Sequence↗

[Primary mediastinal (thymus) large B-cell lymphoma: clinically defined type of tumors and morphologic variants].

In the WHO lymphoma classification, primary mediastinal (thymic) large B-cell lymphoma (PMVBL) is defined as a subtype of diffuse large B-cell lymphoma (DLBCL) showing typical clinical manifestation. The patterns related to variability of tumor cell morphology were analyzed in the setting of 15 bioptically verified PMVBL cases. In the majority of the cases (n = 12), the tumor showed pleomorphic blastic morphology with individual cell patterns resembling those of polymorphic centroblastoma of the Kiel classification. In addition, some of the cases had clear-cell and/or lacunar appearance (5/12), while distinctive anaplastic appearance was rare (1/12). Other cases (n = 3) showed a monotonous morphology of uniform smaller-sized blasts with monocytoid-like cytoplasm. The described morphologic variants of PMVBL might be related to the known genotypic variability of DLBCL, although monotypic c-Ig expression verified in some of the cases would support post-follicular stage of the tumor cell development. In the absence of clinical data and within the described morphologic variability, it is recommended to prefer a diagnosis of DLBCL and to include the tumor into a clinically defined subtype of PMVBL only in cases with well defined and typical clinical presentation and progression of the disease.

Adolescent↗

Burkitt-type ALL with variant t(2;8) and complex additional rearrangements at diagnosis.

We describe a case of Burkitt-type acute lymphoblastic leukemia (L3 according to the classification FAB) with a variant t(2;8)(p12;q24) and additional chromosomal abnormalities at diagnosis. The karyotype was 47,X,Xq+,t(2;8)(p12;q24),7q+,12p+,+mar. The literature on chromosome rearrangements associated with t(2;8) in L3 leukemias has been reviewed.

Bone Marrow↗

E pluribus unum: The riddle of focal segmental glomerulosclerosis.

A recent consensus conference proposed a new classification for focal segmental glomerulosclerosis (FSGS). Five patterns have been defined: FSGS not otherwise specified, perihilar variant, cellular variant, tip variant, and collapsing variant. In light of the multiplicity of classification schemes in use, the promise of a rational and uniform scheme for FSGS pathology is most welcome. This approach has worked extremely well for the classification of lupus nephritis. It does not necessarily mean, however, that this new classification scheme will help to select treatment protocols according to histopathologic subsets of FSGS. In fact, one renal biopsy examination may show multiple variants and this classification, despite many merits, still lumps categories that should be split and splits categories that should be lumped together. It has become clear that despite its histologic diversity FSGS begins as a podocyte disease that progresses from a cellular to a scar lesion. Recent years have brought about astonishing insight into the complex molecular array of proteins forming the slit diaphragm between podocyte foot processes, a narrow space essential for restricting glomerular permeability to albumin. Concentrating on the podocyte rather than on the glomerular tuft is helpful for abolishing the classic distinction between primary versus secondary forms of FSGS, a distinction that crumbles away with each new evidence of genetic, ischemic, or viral etiologies of FSGS, despite similar lesions. In fact, recent studies focusing on the podocyte changes that occur in various subsets of FSGS have unraveled the striking phenomena of podocyte dedifferentiation and transdifferentiation along with differential expression of cyclin-dependent kinase inhibitors. Interestingly, the latter showed that expression of cyclin-dependent kinase inhibitors p21 and proliferation marker Ki-67 are the same in cellular FSGS, collapsing glomerulopathy, and human immunodeficiency virus-associated FSGS. Taken together these findings lead to a reassuring unitary interpretation of the pluralistic appearance of FSGS by histopathology. Clearly, further studies of the podocyte will lead to improved understanding of FSGS and to improved classification schemes that are grounded in molecular understanding of glomerular injury and that will guide the clinician in the choice of treatment and prognosis.

Animals↗

Congenital H-type urethroanal fistula.

A case of congenital urethroanal fistula with a normal anterior urethra in a male child is reported. The fistula was demonstrated between the prostatic urethra and anorectum. This anomaly is usually associated with an atretic anterior urethra and has been variously described as a variant of a urethral duplication by some authors, and of an anorectal malformation (ARM) by others. We conclude that its rightful classification is as a variant of ARM in which the fistula is a result of persistence of the cloacal duct and corresponds to the anorecto-vestibular fistula with a normal anus (perineal canal) in a female.

Humans↗

Translocation (8;17)(p21;q21), a possible variant of t(15;17), in acute promyelocytic leukemia.

We report a 64-year old man with typical features of acute promyelocytic leukemia (APL) [M3, French-American-British (FAB) classification] in whom a variant, t(8;17)(p21;q21), was detected. This is the second case of the same variant translocation to be reported. The breakpoint on 17q was similar to those described in cases with a standard translocation 15;17. Consequently, this chromosome break or rearrangement at band 17q21, rather than the recipient site of translocation of the deleted material, appears to be of crucial importance in the genesis of APL.

Chromosomes, Human, Pair 15↗

Oncogene lineages of human papillomavirus type 16 E6, E7 and E5 in preinvasive and invasive cervical squamous cell carcinoma.

Human papillomavirus (HPV)16 accounts for about 60% of the HPV infections in invasive cervical cancer (ICC). There are many sequence variations within HPV16, some of which have been associated with different biological properties, although no definite correlations have yet been established. However, the definition 'variant' has been a source of confusion in research and diagnosis, since it is based on all sequence deviations from a randomly selected prototype. This study has sequenced the HPV16 oncogenes E6, E7 and E5 from 61 Swedish cases with cervical intraepithelial neoplasia grade III (CIN III) or ICC. Clustering the sequence variations at the three common sites of variation (nucleotide 350 in E6, which has previously been associated with the progression from CIN III to ICC, and nucleotides 3979 and 4042 in E5) resulted in the distinction of three major oncogene lineages encompassing more than 95% of the cases, and two minor oncogene lineages. Simple comparison of the distribution of the individual variations or oncogene lineages between CIN III and ICC showed no significant difference, but the number of variations in addition to the three common ones was significantly higher in ICC. This novel classification scheme, based on the variations in the E6, E7 and E5 region, is considered to be a major improvement over the classical 'prototype-variant' classification, and can help to clarify the interpretation of HPV sequence data in relation to the progression of cervical cancer.

Carcinoma, Squamous Cell↗

Molecular Landscape and Advanced Diagnostic Technologies for BRAF Mutations in Cancer: From Quantitative PCR and ddPCR to CRISPR-Based Platforms.

BRAF mutations are key oncogenic alterations across multiple malignancies, including melanoma, thyroid carcinoma, colorectal cancer, non-small cell lung cancer, glioma, and hairy cell leukemia. The most prevalent variant, BRAF-V600E, induces constitutive activation of the MAPK signaling pathway, promoting tumor progression and influencing therapeutic responsiveness. Accurate detection of BRAF alterations is therefore essential for molecular classification, prognostic assessment, treatment selection, and resistance surveillance. This review summarizes the molecular heterogeneity of BRAF mutations and critically evaluates current diagnostic methodologies. Conventional approaches such as allele-specific PCR and Sanger sequencing are compared with advanced quantitative platforms, including high-resolution melting analysis, droplet digital PCR, and next-generation sequencing, with emphasis on analytical sensitivity, mutation coverage, and clinical applicability. Emerging technologies such as CRISPR-based assays, rolling circle amplification systems, and nanoparticle-based biosensors and point-of-care diagnostic platforms are also discussed for their potential to enhance ultra-sensitive detection, particularly in liquid biopsy settings. These emerging tools are highlighted for their potential to enable ultra-sensitive, rapid, and decentralized mutation detection, particularly in liquid biopsy settings. Key challenges, including intratumoral heterogeneity, low allele-frequency variants, FFPE-associated artifacts, and clonal evolution under therapeutic pressure, are examined within a translational framework. In addition, we examine critical barriers to clinical implementation, including standardization, cost, and global accessibility of molecular diagnostics, and outline potential solutions through scalable technologies and decentralized testing strategies. We propose that optimal BRAF testing requires a mutation subclass-informed and clinically integrated strategy combining comprehensive baseline profiling with longitudinal molecular monitoring. Future diagnostic paradigms will likely integrate multi-omics data and artificial intelligence (AI)-assisted interpretation to refine precision oncology implementation. Looking forward, we propose that optimal BRAF testing will require integration of multi-omics profiling with AI-assisted interpretation, enabling automated variant classification, real-time clinical decision support, and improved prediction of therapeutic response and resistance.

Humans↗