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PubMed2001

The hypereosinophilic syndrome revisited.

Clinical and biological features of patients with the idiopathic hypereosinophilic syndrome (HES) are heterogeneous. Recent evidence suggests at least two distinct underlying hematological disorders involving myeloid and lymphoid cells, respectively. We therefore suggest that the term idiopathic should be abandoned in the classification of HES. This review defines the "myeloproliferative" and "lymphocytic" variants of the HES and addresses the management of each variant, focusing on diagnosis and treatment of the newly identified lymphocytic variant.

Cytokines↗

PubMedDate not supplied

[Differentiated thyroid cancer--staging and prognostic systems].

Differentiated thyroid cancer (DTC), including papillary and follicular carcinoma with histological variants, has an excellent prognosis; nevertheless a subset of these tumours is clinically aggressive and, in some patients, fatal. Treatment of DTC remains controversial, regarding the extent of primary surgical resection, the need for lymph node dissection and the role of postoperative radioactive iodine ablation. In addition to the widely accepted TNM classification, recognition of significant risk factors and developing of staging systems, such as AMES, AGES, MACIS, MSKCC and NTCTCS, has helped to identify the patients with a potential aggressive course of the disease and high risk of recurrence. This has allowed the development of a rational and selective approach to therapy, thus, avoiding excessive treatment and subsequent morbidity without compromising the oncological outcome.

Carcinoma, Papillary↗

PubMed1977

Pemphigus vegetans of Hallopeau: immunofluorescent studies.

Immunofluorescent techniques were used in the study of tissue from a patient with pemphigus vegetans of Hallopeau. The findings were typical of pemphigus, confirming the propriety of classifying this entity as a benign variant of pemphigus, rather than a disease of purely microbial etiology. The question is raised whether other types of vegetating pyodermas actually are separate diseases or represent a spectrum of pemphigus with the clinical appearance dependent on the patient's immunity to his disease. Immunofluorescent studies are proposed as a basis for classification.

Aged↗

PubMedDate not supplied

[Psychogenic depressions in forensic psychiatric practice].

Analyzes the problems of diagnosis, classification, and assessment of psychogenic depression in forensic psychiatric practice. Clinical manifestations of such depressions are variable and numerous; the range of psychogenic depressions includes the borderline and psychotic forms each of which may be a separate entity or represent a stage in the development of a reactive depression. Distinguishing of these variants may be reasonable to assess the severity of a depressive disorder when deciding expert problems and for assessing the capacity of the subject exposed to expert evaluation to take advantage of his or her legal rights.

Adjustment Disorders↗

PubMed2005

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral.

BACKGROUND: Genetic testing for hereditary cancer syndromes contributes to the medical management of patients who may be at increased risk of one or more cancers. BRCA1 and BRCA2 testing for hereditary breast and ovarian cancer is one such widely used test. However, clinical testing methods with high sensitivity for deleterious mutations in these genes also detect many unclassified variants, primarily missense substitutions. METHODS: We developed an extension of the Grantham difference, called A-GVGD, to score missense substitutions against the range of variation present at their position in a multiple sequence alignment. Combining two methods, co-occurrence of unclassified variants with clearly deleterious mutations and A-GVGD, we analysed most of the missense substitutions observed in BRCA1. RESULTS: A-GVGD was able to resolve known neutral and deleterious missense substitutions into distinct sets. Additionally, eight previously unclassified BRCA1 missense substitutions observed in trans with one or more deleterious mutations, and within the cross-species range of variation observed at their position in the protein, are now classified as neutral. DISCUSSION: The methods combined here can classify as neutral about 50% of missense substitutions that have been observed with two or more clearly deleterious mutations. Furthermore, odds ratios estimated for sets of substitutions grouped by A-GVGD scores are consistent with the hypothesis that most unclassified substitutions that are within the cross-species range of variation at their position in BRCA1 are also neutral. For most of these, clinical reclassification will require integrated application of other methods such as pooled family histories, segregation analysis, or validated functional assay.

Amino Acid Sequence↗

PubMed2003

Primary lymphoma of the liver: clinical-pathological features and relationship with HCV infection in French patients.

Primary lymphoma of the liver (PLL) is rare. In some cases, the hepatic lymphoma has been diagnosed in patients who were infected by the hepatitis C virus (HCV). It has been suggested that HCV plays a role in the pathogenesis of lymphoma. The aim of our multicentric retrospective study was to assess the characteristics of PLL and to determine the prevalence of HCV infection in PLL. Thirty-one immunocompetent patients (anti-human immunodeficiency virus, anti-human T-cell leukemia/lymphoma virus negative, no history of allograft) with PLL fulfilled the entire selection criteria. The liver biopsy specimens were reassessed by the same pathologist. The non-Hodgkin's lymphomas were classified according to the World Health Organization classification. Blood samples were tested in 28 patients for antibodies to HCV, and HCV RNA was detected by reverse transcription polymerase chain reaction. In the majority of cases, the clinical, biologic, and radiologic data were nonspecific. Twenty-seven of 31 patients presented a B-cell lymphoma corresponding to the centroblastic morphologic variant of a diffuse, large B-cell lymphoma (22 cases), a Burkitt's lymphoma (1 case), an extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue type (3 cases), and unclassified, small B-cell lymphoma (1 case). The 4 other cases were T-cell lymphomas. The prevalence of HCV infection was 21% (6 of 28 cases). All of these patients were positive for HCV RNA by polymerase chain reaction in blood. Most of the HCV-infected patients presented a high-grade, B-cell type lymphoma. In conclusion, our study confirms the rarity of PLL and demonstrates an increased prevalence of HCV infection.

Adult↗

PubMed1997

von Willebrand disease.

Considerable progress has been made in characterizing the specific molecular defects responsible for the heterogeneous disorder known as von Willebrand disease (VWD). A large number of molecular defects have been identified and precise characterization may now be possible in the majority of type 2A, type 2B, type 2N, and potentially also type 3 VWD cases. However, the most common variant, type 1 VWD, still remains a major challenge. Continued progress in this area will improve our understanding of the pathogenesis of VWD and lead to more rapid and precise diagnosis and classification for this common disorder. The problems of incomplete VWD penetrance and poor diagnostic sensitivity and accuracy for the currently available clinical laboratory tests provide strong incentives for the development of DNA-based diagnostics. In addition, prenatal diagnosis is now possible either at the level of single point mutations (for some subtypes) or by RFLP analysis (assuming linkage to the von Willebrand factor [VWF] gene) and will probably be applied with increasing frequency for VWD type 3 (17, 133, 175). Understanding the molecular basis of VWD also has important implications for VWF structure and function and is helping to define critical binding domains within the VWF molecule. Insights gained from these studies may eventually lead to improved therapeutic approaches not only for VWD, but also for a variety of other genetic and acquired hemorrhagic and thrombotic disorders.

DNA Probes↗

PubMed1984

[Clinico-morphological characteristics of renal-cell carcinoma].

One hundred and fifty patients aged 19 to 79 years operated on for renal-cell carcinoma in 1978-1982 were examined. In 46% of the patients tumour was confined to the kidney, in 30%, it grew into the perirenal fat, and in 18.7%, into the renal veins, in 11.3%, there were metastasis to the regional lymph nodes and in 8%, remote metastasis. Morphologically, tumours were verified according to the classification by N. A. Kraevsky et al.: clear-cell carcinoma was diagnosed in 50.7%, granular-cell carcinoma in 12.7%, sarcoma-like carcinoma in 4.7%, adenocarcinoma in 13.3%, mixed-cell carcinoma with signs of different variants in 18.7% of patients. The morphological picture was compared to the angiographic and main clinical data; the frequency of tumour growth into the fibrous capsule of the kidney and vein and the incidence of metastasis were established for various morphological types of tumour. The incidence of these parameters is not similar at different morphological types, thus it is possible to distinguish different clinicomorphological variants of renal-cell carcinoma.

Adenocarcinoma↗

PubMed1995

[Patterns in the spread of the vertical blood reflux in the musculo-venous "pump" of the foot in varicose disease].

An analysis of the complex clinical and phlebographic examination of 84 patients with the varicose disease was made. Eight variants of the state of the valve apparatus of profound veins of the foot were established. Main regular features of spread of the retrograde blood flow the profound veins along insufficient perforating to the superficial veins were determined. A classification of incompetence of the valve apparatus of the profound veins of the foot was developed which allows the choice of surgical procedures depending on the injury degree.

Adult↗

PubMed1989

Proposals for the classification of chronic (mature) B and T lymphoid leukaemias. French-American-British (FAB) Cooperative Group.

Peripheral blood, bone marrow films, and bone marrow biopsy specimens from 110 patients, well characterised by clinical and laboratory studies, including electron microscopy, were reviewed, to determine proposals for the classification of chronic (mature) B and T cell leukaemias. On the basis of cytology and membrane phenotype the following disorders were defined: (i) B cell type: chronic lymphocytic leukaemia (CLL); CLL of mixed cell type, which includes cases with more than 10% and less than 55% prolymphocytes (CLL/PL), and a less well defined form with pleomorphic lymphocytes but less than 10% prolymphocytes; prolymphocytic leukaemia (PLL); hairy cell leukaemia (HCL); HCL variant; splenic lymphoma with circulating villous lymphocytes; leukaemic phase of non-Hodgkin's lymphoma (follicular lymphoma, intermediate, or mantle zone lymphoma and others); lymphoplasmacytic lymphoma with peripheral blood disease (mostly Waldenström's macroglobulinaemia); and plasma cell leukaemia. (ii) T cell type: T/CLL, which was differentiated from reactive T/lymphocytosis; T/PLL; adult T cell leukaemia/lymphoma; and Sézary's syndrome. The recognition of distinct entities within the B and T cell leukaemias seems to have clinical and epidemiological connotations. It is hoped that these proposals may serve as the basis for further work, discussion, and improved management of patients.

Adult↗

PubMed2003

Phenotypic abnormalities: terminology and classification.

Clinical morphology has proved essential for the successful delineation of hundreds of syndromes and as a powerful instrument for detecting (candidate) genes (Gorlin et al. [2001]; Syndromes of the Head and Neck; Oxford: Oxford University Press. 1 p]. The major approach to reach this has been careful clinical evaluations of patients, focused on congenital anomalies. A similar careful physical examination performed in patients, who have been treated for childhood cancer, may allow detection of concurrent patterns of anomalies and provide clues for causative genes. In the past, several studies were performed describing the prevalence of anomalies in patients with cancer. However, in most studies, it was not possible to indicate the biologic relevance of the recorded anomalies, or to judge their relative importance. Are the detected anomalies common variants, and should they thus be regarded as normal, or are they minor anomalies or true abnormalities, indicating a possible developmental cause? Classification of items in the categories of common variants (disturbances of phenogenesis with a prevalence >4%), minor anomalies (disturbances of phenogenesis with a prevalence </=4%), and malformations (disturbances of embryogenesis) should allow weighing the importance of the scored items in the population under study, and should facilitate assessment of developmental disturbances (if any) in a study group. The lack of published consensus in the literature led us to produce a classification list with a twofold goal. First, we wanted to enhance uniformity in the scoring and classification of apparently abnormal physical findings by a nomenclature for errors of morphogenesis detectable on surface examination, and secondly a uniform classification system. This should allow investigators to evaluate systematically the presence of patterns in phenotypic anomalies, in the general population, and in patients with various disorders, suspected to be a developmental anomaly. Also, normal values may be obtained this way. Second, the list will allow a determination of the importance of the collected symptoms in a study population. We tested the feasibility of the application of the classification list in a study population: the list was piloted in a group of patients who have had cancer as a child, to detect patterns of anomalies related to specific types of tumors.

Adult↗

PubMed2004

Advances in the diagnosis and classification of chronic lymphoproliferative disorders.

In this review, we have highlighted recent advances in chronic lymphoproliferative disorders that commonly involve the peripheral blood. As we have seen, our concepts of certain diseases are changing. Molecular genetic and immunophenotypic studies are allowing more precise characterization of CLL and defining important biologic markers that predict clinical behavior. Prolymphocytic leukemia is now more narrowly defined and its relationship to nucleolated variants of MCL is now apparent. With new reagents and techniques applied to problems such as identification of Sezary cells and T-cell monoclonality determination, our ability to diagnose, monitor, and provide prognostic information is improving. Insight into the biology of these diseases also may provide new therapeutic targets in the future.

Chronic Disease↗

PubMed1987

[Variants of chronic heart failure in ischemic heart disease patients and optimization of their treatment].

Computer-assisted classification of hemodynamic data was performed in 172 patients with coronary heart disease aggravated by chronic heart failure. Six groups of patients have been identified, and an individual treatment algorithm has been proposed for each of those. The use of optimum individual treatment schedules has produced good or satisfactory clinical effect in 87.3%.

Adult↗

PubMed2004

[Common disorders and diseases of the nails. Anatomy, physiology, disorders, clarification and therapy].

Disorders of anatomical variants of the nails are often seen in clinical practice. Their correction identification and interpretation are essential dermatological skills. The increasing emphasis on aesthetic considerations in dermatology means that even the slightest nail changes may assume significance for their patients. In order to skillfully evaluate nails, one must be familiar with the terminology and classification of nail disorders. The nail plate, nail bed and periungual tissue may also be affected. Longitudinal melanonychia is especially important as a possible clue to subungual melanoma.

Diagnosis, Differential↗

PubMed1995

Post-resuscitation disease--a new nosological entity. Its reality and significance.

Experimental and clinical investigations of patients resuscitated after cardiac arrest or terminal states, testify to the fact that in the post-resuscitation period alongside processes of recovery and compensation, a number of new pathological phenomena develop. The latter differ substantially from those caused by ischemia and hypoxia. These post-resuscitation processes involve not only the CNS, but also the entire body and may lead to severe disability and even death of the seemingly successfully revived body. The data available suggests that this post-resuscitation pathology is a new nosological entity--a post-resuscitation disease. This disease has it own specific etiology, pathogenesis, variants of the clinical course (a number of syndromes) and the system of treatment and rehabilitation. In view of the ever wider use of resuscitation in clinical practice, it is expedient to organize an all-round study of this nosological entity, the optimum systems of its treatment, and to include this entity into International Classification of Diseases of WHO.

Central Nervous System Diseases↗

PubMed2000

Non-Alzheimer dementias.

The past decade has seen a considerable resurgence of interest in non-Alzheimer forms of neurodegenerative dementia. Advances in our understanding and classification of these conditions have taken place over a diverse range of disciplines: from genetics and immunohistochemistry to neuropsychology and psychiatry. The aim of this article is to review, from a clinician's perspective, our current understanding of the major degenerative dementias that fall into the differential diagnosis of Alzheimer's disease. The clinical variants of frontotemporal dementia (semantic dementia, progressive nonfluent aphasia, and dementia of a frontal type), amyotrophic lateral sclerosis associated dementia, corticobasal degeneration, and dementia with Lewy bodies are considered.

Amyotrophic Lateral Sclerosis↗

PubMed1996

Structure, genomic organization, replication and variability of hepatitis C virus.

Hepatitis C virus (HCV) is an enveloped, single-stranded RNA virus that has been classified in the Flaviviridae family. The genome of 9400 nucleotides comprises two non-coding regions in 5' and 3' flanking a large reading frame which codes for a polyprotein of 3000 amino acids; this polyprotein is further cleaved into structural (C, E1, E2) and non-structural (NS1, NS2, NS3, NS4, NS5) proteins. The positive RNA acts as a cap-independent messenger; the transcription is mediated by the NS5 RNA polymerase. After the maturation step, the virion is liberated by budding through the cytoplasmic membrane. As for many other RNA viruses, the HCV genome exhibits a high degree of variability, especially in the E2/NS1, E1, NS3 and NS5b regions. Conversely the 5' non-coding region is highly conserved, at least in part, and can be used for diagnostic purposes by PCR technique. Six genotypes of HCV have already been reported, numbered from 1 to 6 in Simmonds' classification. The same genotype can be divided into subtypes (for instance, genotype 1 comprises three subtypes: 1a, 1b and 1c). Various minor variants of the same strain, called quasispecies, are commonly present in the blood of the same patient. Strains of genotype 1b--which is the most widespread worldwide--are correlated with more severe clinical manifestations, greater viral loads and lower response to interferon treatment. The high variability of the HCV genome contributes greatly to the difficulty of designing potent vaccines.

DNA, Viral↗

PubMed2006

Sarcomatous dedifferentiated renal cell carcinoma mimicking a severe purulent kidney infection.

Sarcomatous renal cell carcinomas (SRCCs) originate from a dedifferentiation of renal cell carcinoma (RCC). They are characterized by an aggressive course and very poor prognosis. Less known is their ability to imitate inflammatory diseases of the kidney. The aim of the study was to outline the less usual symptoms of SRCCs in a retrospective analysis of 180 patients operated for RCC in 1997-2001. In 11 (6.1%) patients (8 men and 3 women, age 40-76 years, mean age 60 years) SRCC was present. The pTNM classification, results of histological examination, the stage of RCC dedifferentiation and survival after the operation are presented. In almost every patient SRCC was diagnosed at a late stage with combined histological variants of RCC. Survival of the patients after the operation ranged from 1 to 19 (average 8.8) months. In 2 patients an atypical clinical picture imitated abscess of the kidney and calculous pyonephrosis. The authors warn that in spite of the clinical signs of inflammatory disease of the kidneys, a tumorous origin should be excluded. In doubtful cases a quick peroperative biopsy and histology should be performed. Sometimes only a definitive histological examination can reveal the tumorous origin of the disease.

Abscess↗