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Results for “clinical variant classification”

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PubMed1975

[Clinical picture and variants in the course of chronic postinfarction aneurysms of the heart].

The study is based on the analysis of 268 patients with chronic postinfarction aneurysms of the heart, 190 of whom were operated. Clinical characteristics of postinfarction cardiac aneurysms are presented, and several symptoms typical for this pathology are singled out: pericardial pulsation, low pulse volume, tachycardia, outward shift of the left margin of the heart, galloping atrial rhythm. Proceeding from a careful analysis of the clinical material an original classification of the variants of the clinical course of chronic postinfarction carrdiac aneurysms is introduced: 1) with prevailing chronic coronary insufficiency; 2) with combined chronic coronary and cardiac insufficiency; 3) with prevailing cardiac insufficiency.

Adult↗
PubMed1987

Syringoma presenting as milia.

We present two unrelated patients with numerous infraocular milium-like lesions that histologically revealed syringoma with many overlying keratin cysts in the papillary dermis. A Fontana-Masson stain revealed no melanin-containing cells in the keratin cyst walls, suggesting that they originated from eccrine ductal structures. A classification of the clinical variants of syringoma is presented.

Adenoma↗
PubMed1990

Thrombotic thrombocytopenic purpura and related disorders.

This article provides us with background information on the disease. Clinical features, variants and classification, laboratory findings, and pathology are discussed. Knowledge of the disease's pathogenesis has increased recently and specific causes discussed are predisposing factors, triggering agents, endothelial damage, defective PGI2 bioavailability, FVIII/vWF multimeric structure abnormalities, platelet activation, and hemolytic anemia. Proposed specific therapies discussed are steroids, heparin, antiplatelet agents, prostacyclin, splenectomy, immunosuppressive agents, plasma infusion, and plasma exchange.

Adolescent↗
PubMed2001

Classification, clinical manifestations, and immunopathological mechanisms of the epithelial variant of paraneoplastic autoimmune multiorgan syndrome: a reappraisal of paraneoplastic pemphigus.

BACKGROUND: Recent studies suggest that paraneoplastic pemphigus (PNP) is a heterogeneous autoimmune syndrome involving several internal organs and that the pathophysiological mechanisms mediating cutaneous, mucosal, and internal lesions are not limited to autoantibodies targeting adhesion molecules. OBJECTIVE: To classify the diverse mucocutaneous and respiratory presentations of PNP and characterize the effectors of humoral and cellular autoimmunity mediating epithelial tissue damage. METHODS: We examined 3 patients manifesting the lichen planus pemphigoideslike subtype of PNP. A combination of standard immunohistochemical techniques, enzyme-linked immunosorbent assay with desmoglein (DSG) baculoproteins, and an immunoprecipitation assay were used to characterize effectors of humoral and cellular autoimmunity in patients with PNP and in neonatal wild-type and DSG3-knockout mice with PNP phenotype induced by passive transfer of patients' IgGs. RESULTS: In addition to the known "PNP antigenic complex," epithelial targets recognized by PNP antibodies included 240-, 150-, 130-, 95-, 80-, 70-, 66-, and 40/42-kd proteins but excluded DSG1 and DSG3. In addition to skin and the epithelium lining upper digestive and respiratory tract mucosa, deposits of autoantibodies were found in kidney, urinary bladder, and smooth as well as striated muscle. Autoreactive cellular cytotoxicity was mediated by CD8(+) cytotoxic T lymphocytes, CD56(+) natural killer cells, and CD68(+) monocytes/macrophages. Inducible nitric oxide synthase was visualized both in activated effectors of cellular cytotoxicity and their targets. Keratin 14-positive basal epithelial cells sloughed from the large airways and obstructed small airways. CONCLUSIONS: The paraneoplastic disease of epithelial adhesion known as PNP in fact represents only 1 manifestation of a heterogeneous autoimmune syndrome in which patients, in addition to small airway occlusion and deposition of autoantibodies in different organs, may display a spectrum of at least 5 different clinical and immunopathological mucocutaneous variants (ie, pemphiguslike, pemphigoidlike, erythema multiforme-like, graft-vs-host disease-like, and lichen planus-like). We suggest that the more encompassing term "paraneoplastic autoimmune multiorgan syndrome," or PAMS, be applied. The pathophysiological mechanisms of PAMS involve both humoral and cellular autoimmunity responses. Epithelial cell membrane antigens other than DSG1 or DSG3 are targeted by effectors of PAMS autoimmunity. Apoptosis of damaged basal cells mediates epithelial clefting, and respiratory failure results possibly from obstruction of small airways with sloughed epithelial cells.

Animals↗
PubMed2005

A clinico-pathological approach to the classification of human demodicosis.

BACKGROUND: Demodicosis is a parasitic skin disease caused by the follicle mites Demodex folliculorum and Demodex brevis. Although there are several clinical variants of this disease, a clear classification is missing. OBJECTIVE: To characterize the clinical features and course of the different forms of demodicosis. PATIENTS: Prospective study of 87 patients with clinical symptoms of demodicosis and positive acarological findings. Each patient was examined an average of six times during the treatment period. RESULTS: We suggest that demodicosis be divided into both primary and secondary types. The usual etiological agent of primary demodicosis is D. folliculorum, which causes an erythemato-squamous eruption in the facial T-zone. The rash starts on unaltered skin and covers 8 - 15 % of the face. Pruritus accompanies the onset of the rash, while erythema is first apparent after papulo-pustules are seen and disappears after treatment. Half the patients show seasonal exacerbations. Secondary demodicosis is usually caused by D. brevis and characterized by a symmetrical malar papulo-pustular eruption. It develops on diseased skin and covers 30 - 40 % of the face. Pruritus starts after the lesion exacerbation, but erythema precedes the papulo-pustular phase and persists after treatment. Most patients flare during the summer. The facial distribution, seasonality and pathogenesis, as well as the species of mite involved, must be taken into consideration in separating the various forms of demodicosis.

Adult↗
PubMed1995

[Histopathology and clinical aspects of primary myelodysplastic syndrome].

The histopathology of bone marrow in primary myelodysplastic syndromes (MDS) is described, with reference to the FAB classification. Variants such as hypoplastic, thrombocythemic and fibrotic MDS are recognized from their histopathology and must be incorporated in the FAB classification. The clinical significance of hypoplastic, thrombocythemic and fibrotic variants is illustrated by the survival rates and leukemic transformation in these patients. Histopathological classification according to the FAB system corresponds with cytological classification, as proven by the distribution of the subtypes, blood values, leukemic transformation rates and survival times. Finally it is even possible to elaborate a prognostic score for survival based on histological features of diagnostic biopsies, which emphasizes the importance of histopathological examination of bone marrow in MDS patients.

Adult↗
PubMed1989

[Clinico-morphologic parallels in malignant lymphoma].

Concurrent clinicomorphological studies were carried out in patients with malignant Hodgkin's and non-Hodgkin lymphomas treated in the Hematologic Clinic of the High Medical Institute in Pleven. The frequency of the different clinicomorphological variants and their classification in accordance with their initial localization, clinical stage and histological variant were studied. Some clinicomorphological features of the patients studied are analyzed.

Adult↗
PubMed1998

Human herpesvirus type 6 variants identified by single-strand conformation polymorphism analysis.

Six human herpesvirus 6 (HHV-6) variants were analyzed for heterogeneity using the polymerase chain reaction (PCR) and single-strand conformation polymorphism (SSCP). Two independent DNA regions were selected: a fragment of the gene U11 (position 18966-21578) coding for a basic phosphoprotein, the major antigenic structural protein pp100; and a fragment from an open reading frame (ORF) area of the gene U67, previously referred to as 13R (position 102458-103519), coding for a product of unknown function. The two PCR systems based on the above DNA sequences yielded products of 187 bp and 223 bp, respectively. DNA obtained from three laboratory reference strains (U1102, R104 and St.W.) and from HHV-6 infected peripheral white blood cells of bone marrow transplant patients and blood donors was used to test the applicability of two different SSCP analysis systems for the identification of HHV-6 variants using amplicons derived by PCR from the two genomic regions described above (U11 [pp100], U67 [13R-ORF]). The generation of characteristic SSCP patterns enables the rapid differentiation of HHV-6 A and B strains for the classification of variants derived from clinical samples, reducing the need for expensive and time-consuming direct sequencing analyses.

Base Sequence↗
PubMed1996

Angiokeratomas: an update.

Angiokeratomas are vascular lesions which are defined histologically as one or more dilated blood vessel(s) lying directly subepidermal and showing an epidermal proliferative reaction. At the center of pathogenesis there is a capillary ectasia in the papillary dermis. The epidermal changes in all forms of angiokeratoma are secondary. The different entities causing vessel ectasia lead to the many clinical variants of angiokeratoma. Current classification distinguishes between widespread forms (angiokeratoma corporis diffusum), which is usually associated with an inborn error of metabolism, and localized forms, which include solitary angiokeratoma, Fordyce's angiokeratoma, angiokeratoma circumscriptum naeviforme and angiokeratoma of Mibelli.

Angiokeratoma↗
PubMed2003

Pediatric migraines: a case report.

Migraines are a common problem faced by the pediatrician. It can be difficult to determine the difference between a common headache and a migraine in young children. This case report will review a case that presented to the neurologist's office, then discuss the epidemiology, pathophysiology, classification of migraine, migraine variants, clinical evaluation, differential diagnosis, and treatment of migraines in a pediatric population.

Child↗
PubMed1988

[The hyperventilation syndrome].

A review of literature comprises the main data on etiological factors, pathogenetic mechanisms, clinical peculiarities and methods of diagnosis of the hyperventilation syndrome. Physicians' insufficient knowledge of this disease is emphasized. Various clinical manifestations are based on the same pathogenetic mechanisms of acute or chronic respiratory disregulation resulting in hypocapnia, a rise of vascular tone, and electrolytic disorders. Of great practical importance is the use of a unified clinical classification, of which a variant is proposed by the authors. The main therapeutic modalities are: 1) psychotherapy, 2) pharmacotherapy, 3) exercise therapy.

Affective Symptoms↗
PubMedDate not supplied

[Variants of hermaphroditism (clinical findings)].

False and true hermaphroditism (FH and TH) are often encountered in surgery for hypospadia. A clinically validated classification of various types and variants of hermaphroditism is proposed. FH is divided into male FH and female FH. TH also falls into two categories: TH without anomalies of external genitalia and that with these anomalies. The latter category has three variants: 1) all genitalia of males or females and some genitalia of the other sex; 2) some female and male organs in various combinations; 3) all organs of both sexes. All TH variants are illustrated by 5 case reports. These patients were thoroughly examined and their sex was surgically corrected.

Adolescent↗
PubMed2001

[Systemic vascular purpura: clinical etiological variants].

Systemic vascular purpura (SVP) represents angiites, heterogeneous by etiology and pathogenesis. Their pathogenetic classification does not fully reflect the clinical picture, course, and prognosis. The authors suggest a clinical etiological approach to differential diagnosis of SVP. With this aim in view they examined 82 patients with SVP hospitalized at Clinic of Therapy and Occupational Diseases of I. M. Setchenov Moscow Medical Academy in 1993-1996. Etiologically-associated differences in clinical manifestations of SVP were detected and clinical etiological variants of disease were distinguished. Endotoxemia was found to be often associated with purpura of different etiology, which can be regarded as a stage in the pathogenesis. The data allow creation of a clinical etiological classification of SVP and development of new therapeutic approaches.

Adolescent↗
PubMed2026

Targeted reflex RNA sequencing for enhanced variant classification on exome and genome sequencing improves patient outcomes.

RNA sequencing (RNA-seq) has been utilized to provide functional evidence regarding the impact of splicing variants. This study explores the utility of targeted reflex RNA-seq to inform classification of predicted splicing variants identified through clinical exome sequencing (ES) and genome sequencing (GS). A retrospective analysis was conducted on consecutive ES/GS cases completed at a single center in which targeted reflex RNA-seq was performed following identification of eligible variants. There were 131 cases (4.1%) that had at least one RNA-seq eligible variant reported, with eight of these cases having two unique eligible variants. Of the 139 eligible variants, 125 were classified as variants of uncertain significance (VUS). Sixty-four cases had targeted reflex RNA-seq completed with 27 cases having at least one variant reclassified (42.2%). After reclassification, 23 cases had positive results, and two cases had a likely diagnosis of an autosomal recessive condition. Clinical outcomes data regarding positive RNA-seq cases showed that 71% (10/14) had clinical management changes and 43% (6/14) had treatment changes. Incorporation of targeted reflex RNA-seq analysis into the diagnostic pipeline of rare diseases enhances variant classification and resolves uncertainty regarding predicted splice variants, leading to an estimated 1.6% increase in diagnostic yield of clinical ES/GS.

Journal Article↗
PubMed2005

[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↗
PubMed2002

[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↗
PubMed1995

[The classification of peptic ulcer in the interests of military medical expertise].

The author studies new approaches to the ulcer disease classification conducted in the interests of medical rating board. It is proposed to distinguish acute and chronic forms of this illness in order to diagnose the real prior disease and to determine the category of patients in which ulcer disease was not diagnosed at the preceding stages of medical care. It is reasonable to classify four course phases of illness instead of two, and determine the gravity of ulcer disease which will predetermine medical and rating tactics concerning these patients. In the author's opinion it is necessary to include clinical variants of this disease into classification chart to improve the early diagnosis of recidivations.

Acute Disease↗
PubMed2005

The Tridimensional Personality Questionnaire: changes during psychological treatment of social phobia.

Thirty-nine individuals completed 12 weekly group sessions of psychological therapy for social phobia (social anxiety disorder). Before and after treatment, participants filled out the Tridimensional Personality Questionnnaire (TPQ, [Cloninger C.R., 1987a. A systematic method for clinical description and classification of personality variants. Archives of General Psychiatry, 44, 573-58]) and measures of social anxiety and depression. Treatment led to a significant reduction in social anxiety, depression, harm avoidance, and reward dependence. However, only pre-post changes in harm avoidance and depression were significantly correlated with pre-post changes in social anxiety. These results suggest that harm avoidance shows state-dependent changes during the course of treatment for social phobia. The implications of these findings for the trait/state distinction of the TPQ scales are discussed.

Adult↗