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Results for “clinical variant classification”

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PubMedDate not supplied

[Subdivision of certain morphological variants of chronic glomerulonephritis].

Modern methods allow to detail morphological classification of chronic glomerulonephritis, to adapt it to the clinical classification and to recommend it for practical use. This specification concerns minimal changes and a group of mesangial chronic glomerulonephritis. The term "minimal changes" is a light-microscopic definition and covers rather a heterogeneous group of diseases or their initial manifestations. Differential diagnosis of these diseases is feasible only at the electron microscopic level. A group of chronic glomerulonephritis (mesangioproliferative and mesangiocapillary) includes variants distinguished on the basis of immunohistochemical, light microscopic and electron microscopic methods. Of them, the immunohistochemical method is most valuable for differentiation of mesangioproliferative glomerulonephritis.

Chronic Disease↗
PubMedDate not supplied

[Acquired dysimmune neuropathies. Clinical symptoms and classification].

INTRODUCTION: The neuropathies caused by dysimmunity have seen great changes in recent years. The different forms of clinical presentation, electrophysiological expression, associated anomalies seen on analytical tests, particularly the presence of antibodies to the various antigens of myelin are becoming better understood. This confirms their dysimmune nature and also offers unforeseen possibilities for the comprehension of etiopathogenic mechanisms and possible classifications of specific etiopathogenic factors. DEVELOPMENT: Based mainly on our own experience, in this paper we review current concepts of the three main dysimmune polyneuropathies, the Guillain-Barré syndrome, chronic inflammatory demyelinating polyradiculoneuritis or CIDP and the motor multifocal neuropathies (MMN) with block-conduction or Lewis-Summer syndrome. Regarding the first condition, we particularly emphasize the convenience of establishing the broad classification needed by the variation in its clinical presentation, with regional and functional variants: among the latter we consider particularly the pure motor forms which in most cases are axonal forms with an etiopathogenic basis which is fairly well established and almost constantly associated with the presence of specific antibodies in the serum of patients with this condition. With reference to CIDP, we discuss the existence of atypical forms and the frequency of the relapsing form concerning the evolution. The MMN are the most recently discovered dysimmune neuropathies, according to both the literature and personal experience. We try to establish the difference between pure motor forms and those which also have sensory involvement (or MADSAM) and are called the Lewis-Sumner syndrome.

Adult↗
PubMedDate not supplied

[Ocular structural and functional disturbances, typical for open-angle glaucoma, are the basis for the development of its present-day classification].

A major breakthrough in the development of clinical studies of the structures and functions of the optic disk (OD) has allowed one to notice the earliest manifestations of open-angle glaucoma (OAG). Along with this, consideration of the data accumulated in the literature on the role of risk factors of glaucoma and on the variants of the clinical course of the disease has enabled the author to suggest to update the OAG classification developed 30 years ago. The proposed schemes use just the procedures currently recommended by the International Glaucoma Association as the most informative ones.

Apoptosis↗
PubMed2003

Lipomas of the oral cavity: clinical findings, histological classification and proliferative activity of 46 cases.

Lipomas represent about 1 to 5% of all neoplasms of the oral cavity. Although relatively common, few large series of intraoral lipomas and its variants are seen in the literature. Therefore, the authors present the clinical, histological and immunohistochemical features of 46 cases of intraoral lipomas reviewed from the files of the University of Campinas Dental School from 1970 to 2001. Most of the cases affected adults, without gender predilection, and the main involved sites were the buccal mucosa (21 cases), tongue (six cases), lips (six cases) and floor of mouth (five cases). The histological analysis revealed 21 cases of lipoma, 18 fibrolipomas, four intramuscular lipomas, two minor salivary gland lipomas and one spindle cell lipoma. PCNA and ki-67 expression indexes were higher in spindle cell lipoma, intramuscular lipomas and fibrolipomas compared to common lipomas, but the differences were not statistically significant. All lesions were removed surgically and none showed recurrence, regardless of the various proliferative activities.

Adolescent↗
PubMed2026

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.

PURPOSE: We aim to better define the genotype and phenotype spectrum of RNU4ATAC-opathy, demonstrate the utility of RNA sequencing (RNA-seq) for variant classification, and highlight the challenges in detecting variants in this noncoding gene. METHODS: Sixty individuals with molecularly confirmed RNU4ATAC-opathy were recruited from multiple clinical and research centers internationally. RNA-seq was available for 7 affected individuals. RESULTS: We report the clinical and molecular findings of 60 individuals, including 42 not previously described, and 33 distinct RNU4ATAC variants, 13 of which are novel. Core features in this cohort-present in most individuals assessed and varying in severity-include microcephaly, short stature, skeletal anomalies, developmental delay, cerebral anomalies, skin conditions, and immune deficiency. Additional findings, such as diabetes, holoprosencephaly, and the absence of various core features in some individuals, highlight the broad phenotypic spectrum. All individuals who underwent RNA-seq showed a consistent pattern of minor intron retention. In 6 individuals, RNA-seq enabled the reclassification of variants of uncertain significance as likely pathogenic. Although RNU4ATAC variants are generally covered by clinical exomes, they are often overlooked in analysis because of their noncoding nature. CONCLUSION: This study highlights the variability of phenotypes and genotypes associated with RNU4ATAC-opathy. Laboratories should ensure RNU4ATAC and other noncoding genes are appropriately assessed by their analysis pipelines.

Lowry-Wood syndrome↗
PubMed1998

Corticosteroid-responsive postmalaria encephalopathy characterized by motor aphasia, myoclonus, and postural tremor.

OBJECTIVES: To study the clinical spectrum of an acute severe encephalopathy occurring in 2 patients after recovery from falciparum malaria infection and to compare it with the reported clinical features of the postmalaria neurological syndrome. DESIGN: Case report. SETTING: Tertiary care hospital. PATIENTS: Two patients presented with acute onset of fluctuating motor aphasia, severe generalized myoclonus, and postural tremor. Additional signs were cerebellar ataxia, and in 1 patient, generalized epileptic seizures. Magnetic resonance imaging of the brain revealed patchy white matter lesions in 1 patient. Clinically, the patients' conditions continued to worsen until corticosteroids were introduced, the use of which induced a rapid, albeit incomplete, recovery. CONCLUSIONS: We describe a new, severe variant of the still poorly defined postmalaria neurological syndrome. We propose a preliminary classification of this syndrome, according to its clinical characteristics, as follows: a mild or localized form, characterized by isolated cerebellar ataxia or postural tremor; a diffuse, but relatively mild encephalopathic form, characterized by acute confusion or epileptic seizures; and a severe, corticosteroid-responsive encephalopathy that is characterized by motor aphasia, generalized myoclonus, postural tremor, and cerebellar ataxia.

Adrenal Cortex Hormones↗
PubMed2003

[New WHO classification of lymphoid neoplasms: understanding and consideration].

The latest version of new WHO classification of lymphoid neoplasms is a comprehensive and distinct opinion of lymphoid neoplasms, and maybe put an end to the controversy held in this field for a long time. The new classification defines the neoplasm categories according to the principle that the classification should be based on the real entities of diseases and should contain the morphology, immunophenotypes, genetic alterations and clinical features rather than simply emphasize the pure morphologic presentations. The new subtyping of lymphoid cancers provides a correct framework for malignant lymphoma, and also represents a new paradigm in disease classification. So far the accumulated experiences have demonstrated that the new classification is reproducible and practical. However, it remains to determine how the variants of lymphomas relate to their clinical prognostic factors, such as international prognostic index and individual difference, since the current treatment approach relays on the types of lymphomas. The diagnosis, treatment and researches of lymphomas in China are also discussed.

Humans↗
PubMed1999

Condylar fractures during growth: follow-up of 16 patients.

Fractures of the mandibular condyle represent 20% to 35% of all mandibular fractures. There are several clinical variants of this type of fracture that give rise to different problems in relation to their classification and treatment. A sample of 16 patients (of a total of 280 patients examined and treated from 1985 through 1995) with mono- and bilateral, displaced and decomposed, condylar fractures that occurred during growth were examined by the authors, who assessed, by a 2-year follow-up, the relevant clinical, functional, and instrumental parameters. On the basis of the data gathered by this study, a plan was drawn up for treating these patients that takes into account the different situations, such as either a nonsurgical or surgical treatment (by the use of condylectomy or external rigid fixation), and points out the advantages and disadvantages of each method.

Adolescent↗
PubMed2004

Toward a molecular genetic classification of familial hemiplegic migraine.

The genetics of migraine is a fascinating and rapidly moving research area. Familial hemiplegic migraine, a rare subtype of migraine with a Mendelian pattern of inheritance, is caused by mutations in the chromosome 19 CACNA1A gene or in the chromosome 1 ATP1A2 gene. Familial migraine variants are classified on the basis of clinical, descriptive criteria, but this is insufficient. In the future, a diagnostic classification based on mutation-analysis is needed.

Humans↗
PubMed1996

[Formulating problems of ecological diseases. Approaches to etiopathogenesis, classification and diagnosis of ecological diseases due to chemicals].

Our long-standing clinical trials proved nonspecific and stress factors contributing into environmental diseases. The studies helped to define traumatic variant of biologic stress, to describe its trigger mechanisms. The authors analyzed physiologic mechanisms of stress-related diseases, role of autonomous nervous system in formation of environmental diseases. Clinical classification of acute and chronic environmental diseases is given, with consideration of their diagnosis.

Adaptation, Physiological↗
PubMed2004

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↗
PubMed1991

[Criteria for evaluating the severity of craniocerebral trauma in children].

The article discusses the total results of multifactorial analysis of observations over 16,000 children with isolated and more than 400 with combined craniocerebral trauma (CCT) in the light of the peculiarities of the child age and the current trends in studying the problem in the Soviet Union and other countries. From these standpoints, the author first gives a clinicomorphological characterization of CCT types in children, deals with the methods and prospects of objectivication of the evaluation of the severity of isolated and combined CCT, extracranial local injuries in polytrauma, totally determining the severity of the general condition and the efficacy and prognosis of the diagnostic and therapeutic measures. Original methods for quantitative evaluation of the degree of severity of the trauma, which were developed in the clinic, are described. A variety of the clinical CCT forms and the possible variants of the concomitant injuries are systematized in a CCT classification approximated maximally to the solution of practical problems under different conditions, including extreme conditions in mass injuries. For this purpose, the author uses conventional designations for the main gradients of the pathophysiological reactions of the child's organism depending on the location and severity of the concrete damages and the general condition, making a coded recording of the diagnosis possible, which makes easier the sorting out and registration of the patients and orientation as regards the order in which aid should be given and the volume of the therapeutic and diagnostic programs with the use of computers. The patients were subjected to general clinical examination and laboratory tests, as well as special methods of examination (radiography, ultrasonic study, angiography, circulography, computed tomography, etc.). Importance was attached to the results of histological study and the reports of the forensic medical examination committee.

Brain Injuries↗
PubMed2026

The Animal Variant Classification Guidelines v2: An Update With New Criteria and Improved Clarifications.

The Animal Variant Classification Guidelines (AVCG) were developed to standardize and objectify the classification of putative disease-causing variants. These guidelines are sufficiently reproducible and are used to classify previously published and new disease-causing variants across species. Here, the guidelines are updated (AVCG.v2), based on a three-phase decision process. Overall, four new criteria and seven clarifying comments were added. The number of criteria has increased from 23 to 27, with three new criteria supporting pathogenicity and one new criterion supporting benign classification. Pharmacogenomic variants were determined to fall within the scope of the guidelines. These updated guidelines are being used by the Variant Pathogenicity Working Group (VPWG), part of the Animal Genetic Testing Standardization standing committee, which is a committee of elected members of the International Society for Animal Genetics (ISAG). Under the auspices of ISAG, the VPWG retrospectively classifies published putative disease-causing variants. The pathogenicity label for a variant will be presented in the variant tables of Online Mendelian Inheritance in Animals (OMIA; https://omia.org/). The AVCGv.2 criteria and recommendations were developed by the expertise of the animal genetics community and the ISAG Executive Committee through the Animal Genetics Testing Standardization Committee endorses and strongly encourages their use to evaluate the evidence supporting pathogenicity of putative disease-causing variants.

Animals↗
PubMed2001

Diagnostic and classification criteria for the Guillain-Barré syndrome.

BACKGROUND: Diagnostic criteria for the Guillain-Barré syndrome (GBS) have been available since 1978. Since then, several variants have been described. More recently, a distinction has been made between pure motor forms, severe sensory forms, primary axonal and primary demyelinating varieties. Associations of clinical characteristics, and specific infections and the presence of antiganglioside antibodies have been found. For further studies on GBS, it is therefore necessary to reconsider the available diagnostic criteria and add additional criteria for subclassification. METHODS: A panel of (20) experts was formed. The literature representing the recent developments in GBS subclassification was reviewed. Following a consensus protocol, diagnostic and classification criteria were formulated. RESULTS: The diagnosis of GBS can usually be made on clinical characteristics. A schedule for subclassification has been made to cover also the clinical variants in a systematic manner.

Autoantibodies↗
PubMed1991

Familial nephropathic non-neuropathic amyloidosis: clinical features, immunohistochemistry and chemistry.

Classification of familial amyloidosis by the chemical nature of the fibrillar protein has become possible. Most such amyloidogenic proteins so far recognized are variant transthyretins, but two kindreds with the same apolipoprotein AI modification have been reported. We describe the clinical features of another such family in whom petechial skin rash appeared to be a marker for the disease, which was non-neuropathic and of the Ostertag-type. Immunohistochemistry showed the protein to be apolipoprotein AI, but allele-specific DNA amplification indicated that it was not the Arg26 variant previously identified.

Amyloidosis↗
PubMed2003

Ameloblastic carcinoma of the maxilla.

The maxilla is an unusual site for an ameloblastoma, and certainly for an ameloblastic carcinoma. Ameloblastomas are considered as benign, yet locally aggressive neoplasms in the vast majority of cases. However, very rarely, these tumors demonstrate a clinical course of malignancy. Recently, a classification system was published differentiating between malignant odontogenic carcinoma variants. The two such forms include malignant ameloblastoma, and ameloblastic carcinoma. In the differential diagnosis, the designation of malignant ameloblastoma is reserved for lesions that, despite their benign histology, metastasize as well-differentiated cells. The diagnosis of ameloblastic carcinoma is reserved for tumors that demonstrate a malignant morphologic appearance, regardless of whether metastasis is a proven fact at the time of discovery and treatment. We discuss the presentation, pathology, and treatment of the 18th case of a maxillary ameloblastic carcinoma in the literature.

Aged↗
PubMed1984

Primary tumorous aldosteronism due to a black adrenal adenoma: a light and electron microscopic study.

A case of primary tumorous aldosteronism due to a black adrenal adenoma in a 37-year-old man is reported. Light microscopy showed the tumour to consist predominantly of compact cells containing intracytoplasmic lipofuscin, accompanied by zona fasciculata and intermediate type cells. Electron microscopy identified compact and interface (inner zona fasciculata) type cells, and also demonstrated spironolactone bodies in a compact cell. The morphological appearance of the tumour and adjacent adrenal gland, combined with the clinical and biochemical findings, supports both its secretory function and its classification as a rare variant of the more common non-pigmented aldosteronoma.

Adenoma↗
PubMed2026

Expert consensus on the reporting and clinical follow up of individuals with incidentally discovered germline RET variants in the UK.

Incidentally discovered pathogenic germline genetic variants refer to the finding of a pathogenic variant in a gene that is unrelated to the reason for the initial test and is not actively sought. Our clinical understanding of the risk of developing a particular medical condition and the required clinical action for a specific pathogenic gene variant is predominantly based on knowledge and information acquired from cases ascertained through a 'phenotype-first approach' rather than in clinically unselected individuals. Therefore, a modified approach is required for incidentally discovered gene variants. Data from large UK and US population-based cohorts have demonstrated that RET variants classified as moderate-risk RET variants as per the American Thyroid Association (ATA) classification have a low penetrance for medullary thyroid cancer and other RET-related conditions (e.g. phaeochromocytoma) and are not associated with excess mortality when identified incidentally in clinically unselected adult individuals. Here, we provide guidance based on multidisciplinary expert consensus opinion for the reporting and subsequent clinical surveillance and management of patients with incidentally discovered RET gene variants in the UK.

Humans↗