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Surgical correction in complete levotransposition of the great arteries with an unusual subaortic ventricular septal defect.

Six children with an uncommon variant of complete (that is, physiologically uncorrected) transposition of the great arteries are described. In this malformation, levoposition of the aorta is coincident with situs solitus and concordant atrioventricular relations. All patients underwent successful surgical correction. Four had a ventricular septal defect; in three, the defect was subaortic and because of its unusual anatomic features, a right ventriculotomy was required for repair. Interatrial transposition of venous return was carried out in all cases by insertion of a baffle, as in complete dextrotransposition of the great arteries. The surgical verification of the arterial positions in these cases illustrated the fallibility of the so-called loop rule. The significance of the cases in relation to terminology, classification and morphogenesis of this variant is discussed.

Angiocardiography↗

[Muller mixed uterine tumors: classification, histogenesis, morphogenesis and clinicomorphological features].

Muller mixed uterine tumors (MMUT): nomenclature and classification of these tumors are very complicated. Benign variants of these tumors are not considered at all in modem WHO classification although they are described in the literature and occur in practice. Histogenesis and morphogenesis are still not clear. The authors consider MMUT as a group which includes tumors with different biological activity and various histo- and morphogenesis as well as prognosis.

Female↗

Characterization of antibodies produced by S-s- individuals.

BACKGROUND: Historically, classification of U- and U variant (U+var) individuals has been made by hemagglutination and adsorption and elution studies performed with polyclonal U antisera. Molecular studies and serologic tests with a potent monoclonal anti-He have shown that U+var red cells, some of which are He+, possess an altered form of glycophorin B. STUDY DESIGN AND METHODS: Seventeen sera, previously determined to contain anti-U, were tested with a panel of red cells of common and rare MNS types. RESULTS: Five sera contained anti-U only, and 12 sera contained broadly reactive antibodies with apparent, but inseparable, anti-U,He or anti-U,N,He specificities. CONCLUSION: The majority of antibodies produced by S-s-U- individuals are anti-U plus anti-glycophorin B and are analogous to the broadly reactive antibodies produced by En(a-) individuals whose red cells lack glycophorin A or have altered glycophorin A. To avoid further immunization of patients with anti-U, sera used for classification of S-s-U- donors should be selected to detect S-s- red cells that possess altered forms of glycophorin B.

Antibody Specificity↗

[An introduction to iatrogenic pathology].

The authors presented the current conception of iatrogenesis in wide interpretation consistent with The International Classification of the Diseases and Causes of Death (the IX revision). The tendencies in iatrogenesis determination are analysed. Soviet and foreign literature data published on iatrogenic variants, frequency rate, problems for pathologists, classification, medical-pathological and social aspects are delineated.

Diagnosis↗

[The grouping of morphological variants of non-Hodgkin's lymphomas (lymphosarcomas) by the degree of malignancy].

The authors stated that WHO classification allows identification of two groups of morphological variants of non-Hodgkin's lymphomas: low- and high-grade malignancy. These differ by principal clinical characteristics, incidence of complete and partial remissions, survival duration. The analysis of clinical course, long-term and short-term treatment outcomes is provided for 674 patients with the above lymphomas.

Adolescent↗

Classification of hepatitis C virus into six major genotypes and a series of subtypes by phylogenetic analysis of the NS-5 region.

Hepatitis C virus (HCV) showed substantial nucleotide sequence diversity distributed throughout the viral genome, with many variants showing only 68 to 79% overall sequence similarity to one another. Phylogenetic analysis of nucleotide sequences derived from part of the gene encoding a non-structural protein (NS-5) has provided evidence for six major genotypes of HCV amongst a worldwide collection of 76 samples from HCV-infected blood donors and patients with chronic hepatitis. Many of these HCV types comprised a number of more closely related subtypes, leading to a current total of 11 genetically distinct viral populations. Phylogenetic analysis of other regions of the viral genome produced relationships between published sequences equivalent to those found in NS-5, apart from the more highly conserved 5' non-coding region in which only the six major HCV types, but not subtypes, could be differentiated. A new nomenclature for HCV variants is proposed in this communication that reflects the two-tiered nature of sequence differences between different viral isolates. The scheme classifies all known HCV variants to date, and describes criteria that would enable new variants to be assigned within the classification as they are discovered.

Base Sequence↗

History and classification of anaphylaxis.

Anaphylaxis is the maximal variant of an acute allergic reaction involving several organ systems. The phenomenon itself is old, but it was recognized and named at the beginning of the 20th century by Richet and Portier. The clinical symptoms of anaphylaxis affect various organs, most commonly starting in the skin and proceeding to the respiratory tract, to gastrointestinal involvement and to cardiovascular symptoms, and finally to cardiac and/or respiratory arrest. Anaphylaxis stricto sensu is an immunological reaction, mostly mediated by IgE antibodies, but also by IgG or IgM antibodies (immune complex anaphylaxis). There are cases with similar clinical symptomatology without detectable immunological sensitization which are called pseudo-allergic or anaphylactoid reactions. In the newer nomenclature, some authors tend to include these under the heading of 'anaphylaxis' which has then to be defined as an acute systemic hypersensitivity reaction. The most common elicitors of anaphylaxis include drugs, foods, additives, but also other allergens as well as physical factors (cold, heat, UV radiation). The clinical outcome--the intensity of the reaction--is not only influenced by the degree of sensitization, but also by concomitant other factors: sometimes, individuals only develop anaphylaxis after simultaneous exposure to the allergen and an infection, physical exercise, psychological stress or concomitant medication (e.g. beta blockers). The term 'summation anaphylaxis' has been proposed for this phenomenon which probably underlies many cases of so-called idiopathic anaphylaxis. In patients with insect venom anaphylaxis, decreased levels of plasma angiotensin have been measured in inverse correlation to the severity of the reaction. Certain differential diagnoses have to be distinguished from anaphylaxis. Every patient with a history of anaphylaxis should undergo allergy diagnosis with the aim to detect the eliciting agent, characterize the relevant pathomechanism (e.g. IgE-mediated reaction) and to offer a tolerable alternative (in food or drug allergy). In clear-cut IgE-mediated anaphylaxis, allergen-specific immunotherapy (hyposensitization) is the effective causal treatment, with success rates of 90% in insect venom anaphylaxis.

Allergens↗

[Classification and symptomatology of migraine].

The different variants of migraine can be classified in common migraine, classical migraine and complicated migraine. Since objective methods of diagnostic proof are not available, diagnosis and categorisation have to be based on the patient's history and clinical criteria including hard and soft symptoms. Fundamental conditions are the evidence of recurrent headache attacks and the exclusion of other causes of headache.

Autonomic Nervous System↗

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome.

CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss-of-function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity. We report a female infant presenting with clinical features characteristic of CHARGE syndrome. Targeted sequencing identified a heterozygous CHD7 variant (NM_017780.4:c.5273A>G), initially annotated as a missense substitution p.Asp1758Gly. This variant has been previously reported and registered with conflicting pathogenicity classifications; however, its transcript-level consequences remain unclear. Long-PCR-based RNA sequencing of total RNA from peripheral blood mononuclear cells revealed two aberrant splicing patterns associated with the variant: a predominant transcript carrying a 28-bp deletion due to cryptic donor splice-site activation, and a minor transcript with partial intron 24 retention. Both transcripts were predicted to result in premature termination codons. These findings demonstrate that c.5273A>G functions as a LoF variant through dual aberrant splicing rather than a simple missense substitution. This case underscores the importance of RNA-level splicing analysis for the accurate interpretation and classification of CHD7 missense variants.

CHD7↗

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

The Molar Tooth Sign (MTS) is defined by an abnormally deep interpeduncular fossa; elongated, thick, and mal-oriented superior cerebellar peduncles; and absent or hypoplastic cerebellar vermis that together give the appearance of a "molar tooth" on axial brain MRI through the junction of the midbrain and hindbrain (isthmus region). It was first described in Joubert syndrome (JS) where it is present in the vast majority of patients with this diagnosis. We previously showed that the MTS is a component of several other syndromes, including Dekaban-Arima (DAS), Senior-Löken, and COACH (cerebellar vermis hypoplasia (CVH), oligophrenia, ataxia, coloboma, and hepatic fibrosis). Here we present evidence that the MTS is seen together with polymicrogyria, Váradi-Papp syndrome (Orofaciodigital VI (OFD VI)), and a new syndrome with encephalocele and cortical renal cysts. We also present a new patient with COACH syndrome plus the MTS. We propose that the MTS is found in multiple distinct clinical syndromes that may share common developmental mechanisms. Proper classification of patients with these variants of the MTS will be essential for localization and identification of mutant genes.

Abnormalities, Multiple↗

Surgical treatment of type II floating knee: comparisons of the results of type IIA and type IIB floating knee.

The prognosis of type II floating knee injuries was not as good as that of type I. Our purpose is to clarify the factors affecting the outcome of type II floating knee injuries. Thirty-five patients (36 limbs) with type II floating knee injury were studied with a mean follow-up of 52 months (26-96). Blake and McBryde had classified these injuries into type I for pure diaphyseal (true type) fracture and type II if the intra-articular involvements are one or more including hip, knee and ankle joints (variant type). According to this classification, we divided these patients into two groups depending on whether their knees were involved or not. Those cases with intra-articular knee involvement were classified as type IIA, while those without intra-articular knee involvement were classified as type IIB. Of the 36 cases, 21 were classified as type IIA and 15 were type IIB. The functional outcomes of these injuries were evaluated by using the criteria of Karlström and Olerud and analyzed with multivariate analysis. After multivariate analysis with logistic regression, we show the following results: first, the poor functional outcome of type II floating knee is contributed by type IIA. Second, the type IIA group has severer femoral open fracture grading (P = 0.027) and poorer functional outcome (P = 0.009) than type IIB. Third, the significant contributing factors to final outcome are the group (P = 0.013) and the fixation time after injury in femur (P = 0.015). Intra-articular knee involvement is the most important factor contributing to poor outcome of type II floating knee. The treatment of floating knee injuries with intra-articular knee involvement is still difficult. Further efforts to search better methods of treatment are required for these complex injuries in the future.

Adolescent↗

[Assessment of severity of oral lichen planus using a new clinical index].

AIM: The goal of this study was to develop a clinical index to assess therapy of oral lichen planus (OLP) to be used in comparing the efficacy of two topical glucocorticoids. The clinical severity of non-gingival and gingival lichen planus and their severity from the patients' view were evaluated. DESCRIPTION OF THE INDEX: A clinical index for assessing the severity of oral lichen planus is described with which the clinical forms as well as all the varying combinations of forms can be addressed separately. The clinical classification of OLP into six variants according to Andreasen [1] is the basis of the index. The index provides information about the severity of the disease in single regions and in the patient as a whole. The index is subdivided into a basic index as well as supplementary indices, which are optional. The clinical forms and size of OLP are recorded using the basic index, while various form-specific features such as the intensity of whitish pattern or mucosal erythema can be assessed additionally using the supplementary indices. Non-gingival and gingival lichen planus are assigned with their own indices. An index of subjective symptoms consisting of a visual analogue scale and verbal scales is available for describing patient discomfort. There is also a short form of the index (study-region index/one-region index), whereby only a single selected region is assessed. CONCLUSION: The index presented here is available as a new method of assessing OLP severity, offering both basic and advanced information for use especially in scientific studies of oral lichen planus.

Clinical Trials as Topic↗

Granular self-organizing map (grSOM) for structure identification.

This work presents a useful extension of Kohonen's Self-Organizing Map (KSOM) for structure identification in linguistic (fuzzy) system modeling applications. More specifically the granular SOM neural model is presented for inducing a distribution of nonparametric fuzzy interval numbers (FINs) from the data. A FIN can represent a local probability distribution function and/or a conventional fuzzy set; moreover, a FIN is interpreted as an information granule. Learning is based on a novel metric distance d(K)(.,.) between FINs. The metric d(K)(.,.) can be tuned nonlinearly by a mass function m(x), the latter attaches a weight of significance to a real number 'x' in a data dimension. Rigorous analysis is based on mathematical lattice theory. A grSOM can cope with ambiguity by processing linguistic (fuzzy) input data and/or intervals. This work presents a simple grSOM variant, namely greedy grSOM, for classification. A genetic algorithm (GA) introduces tunable nonlinearities during training. Extensive comparisons are shown with related work from the literature. The practical effectiveness of the greedy grSOM is demonstrated comparatively in three benchmark classification problems. Statistical evidence strongly suggests that the proposed techniques improve classification performance. In addition, the greedy grSOM induces descriptive decision-making knowledge (fuzzy rules) from the training data.

Fuzzy Logic↗

The popliteal artery entrapment syndrome: presentation, morphology and surgical treatment of 13 cases.

The morphology, clinical parameters and treatment of the popliteal artery entrapment syndrome (PAES) are presented on the basis of 13 of our own cases and from the literature. PAES is based on a segmental vascular compression due to an anatomical anomaly of the popliteal region and a new classification is presented distinguishing three variants according to the different anatomical conditions. PAES is mostly found in young sportsmen with well-developed muscles. Clinical symptoms are acute or chronic, and the diagnosis is made by physical examination, angiography and Doppler ultrasound, both in neutral position and in plantar flexion. Although thromboendarterectomy in some cases leads to good results, the preferred surgical therapy is decompression of the entrapped artery and reconstruction of the arterial pathway by vein graft interposition. The results were excellent in nine of 13 cases. In two patients, a recurrent thrombosis necessitated a femoro-crural bypass and in two others the entrapment was only diagnosed during reoperation for aneurysms of the venous graft.

Adult↗

Cemento-ossifying fibroma of the ethmoidal sinus in a child presenting with isolated pain in the nasal region.

The authors present a case of a previously healthy 8-year-old girl who presented with pain on the right side of the nose (bony part) radiating to the frontal and temporal regions. Physical examination was normal, whereas magnetic resonance imaging (MRI) of the facial region revealed a tumor limited to the right ethmoidal sinus with a small extension to the medial wall and the upper part of the nasal septum. The tumor was removed by using a 5-degree nasoscope and sent for pathologic examination, which revealed a cemento-ossifying fibroma of the ethmoidal sinus. This is a rare condition, and MRI is a valuable tool in its detection because results of physical examination may be normal in patients reporting nasal pain. According to the World Health Organization classification, this tumor is a variant of cementifying fibromas, which represent a subgroup of cementomas, fibro-osseous lesions containing cementum. Cementifying fibromas are rare tumors. They are usually small, asymptomatic lesions, but although benign, they can develop into aggressive, expansible masses.

Cementoma↗

Preoperative evaluation of living kidney donors using multirow detector computed tomography: comparison with digital subtraction angiography and intraoperative findings.

To assess the accuracy of multirow detector computed tomography (MDCT) for the evaluation of renal anatomy for preoperative donor assessment in living related kidney transplantation. MDCT-scans (4- and 16-slice-CT) of 51 consecutive living kidney donors (age, 51.6 +/- 9.7 years; range, 28-68 years) were analysed by three blinded observers and compared with digital subtraction angiography (DSA) and surgery. Contrast-enhanced MDCT was performed with 1 mm slice thickness reconstruction interval during arterial and venous phases. Supernumerary renal arteries, veins, early branching of vessels and abnormalities of the ureters were documented. The overall accuracy of computed tomography angiography (CTA) for detection and classification of surgically relevant arterial variants was 97% (99/102). The interpretation of 16-channel MDCT images was correct in all cases (accuracy, 100%), while the four-channel CTA had three incorrect results regarding the differentiation of early branching vessels from double renal arteries (accuracy, 93%). The overall accuracy of DSA was 91%. Renal vein abnormalities were correctly diagnosed with MDCT in 100% compared with 89% correct findings with DSA. There were three kidneys with incomplete ureter duplication, detected both with MDCT and DSA. MDCT demonstrated superior accuracy compared with non-selective DSA for the preoperative assessment of renal anatomy in living kidney donors; and for the distinction of supernumerary arteries versus early branching patterns, 16-channel CTA data were better than those of the four-channel system.

Adult↗

Segmental neurofibromatosis in an octogenarian.

A case of segmental neurofibromatosis (SNF) in an octogenarian is presented. The patient's lesions were first noted when he was 74 years of age. This variant of neurofibromatosis (Riccardi's classification, NF-V) is most typically seen in childhood or young adulthood. To the best of our knowledge, our patient's SNF is the first case to present in the eighth decade of life. Physicians working with geriatric patients should be aware of this entity and its lack of genetic heritability or systemic manifestations.

Age Factors↗