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PubMed2004

The spectrum of mesenchymal skin neoplasms reflected by the new WHO classification.

Mesenchymal tumors are a heterogeneous group of tumors often arising in the skin and soft tissue. The tumors have been reclassified by the WHO in 2002. Benign mesenchymal tumors are about a hundred times more frequent than malignant mesenchymal tumors. Clinically, mesenchymal tumors often present as skin-colored nodes. Overall, elderly persons are more affected than younger individuals. The etiology is often unknown, sometimes there is an association with insults such as radiation, scars, or lymphedematous or venous stasis. Whereas some years ago a wide excision with a margin of 3-5 cm was performed for malignant variants, today micrographic surgery is preferred, as it can avoid mutilating procedures. Early detection and removal is critical since mesenchymal skin tumors often cannot be cured by radiation or chemotherapy.

Humans↗

PubMed1989

Pathology of Hodgkin's disease: anything new?

This presentation deals with the gross and microscopic pathology of HD. Recent advances in immunohistochemistry, gene rearrangement studies and cell culture are not discussed, except where they shed light on the pathology. Clinical and pathological experience, over the past 2 decades, suggests that HD should be divided into six subtypes, as originally proposed by Lukes et al. (1966b), rather than the four subtypes included in the Rye classification. Nodular lymphocyte/histiocyte predominant HD forms a clinicopathological entity separate from the other subtypes. It most frequently presents at a single nodal site and, even without therapy, progresses only slowly over a period of many years. A proportion of the patients (in the region of 10%) develop large cell NHL and a smaller number develop other types of Hodgkin's disease. This progression is not due to therapy since it most frequently occurs in untreated patients. Characteristic polylobated RS cell variants are seen in NLPHD. These differ from classic RS cells in that they have a B-cell phenotype, they do not show light chain restriction and, therefore, they do not appear to be a clonal proliferation. Although current dogma states that classic RS cells must be identified before a diagnosis of HD, including NLPHD, is made, it is the author's contention, supported by immunohistochemistry, that this type of RS cell does not occur in NLPHD. Polylobated RS cell variants in the appropriate cellular setting are, in themselves, diagnostic of NLPHD. They also serve to differentiate NLPHD from progressive transformation of germinal centres, an unusual proliferative expansion that may occur in association with HD but which, in itself, appears to be an entirely benign, reactive process. Diffuse lymphocyte/histiocyte predominant HD (DLPHD) differs from NLPHD in its diffuse growth pattern and the frequent presence of larger numbers of histiocytes. Polylobated RS cells are characteristic of both diseases. In some biopsies nodular and diffuse areas are seen in the same lymph node. Despite these similarities, the two diseases differ clinically (NLPHD is usually stage 1, DLPHD is frequently of a higher stage) and in their immunohistochemistry (fewer RS cell variants in DLPHD contain J-chain than in NLPHD). The reasons for these differences are not apparent and require further investigation. It may be due, at least in part, to the inclusion of cases of MCHD and NHL in the DLPHD category. Nodular sclerosis is the commonest category of HD in most reported series.(ABSTRACT TRUNCATED AT 400 WORDS)

Hodgkin Disease↗

PubMedDate not supplied

Clinical features of frontotemporal dementia.

What was once called Pick's disease has three major anatomic variants. With all three, frontotemporal brain is selectively injured whereas posterior cortical regions are spared. These three clinical patterns include a bifrontal, slightly asymmetric subtype with more involvement of the right frontotemporal region called frontotemporal dementia or the frontal variant of FTD (fvFTD), a temporal-predominant subtype called the temporal variant of FTD or semantic dementia (SD), and a left frontal-predominant subtype called progressive nonfluent aphasia (PNFA). The three anatomic groups help to classify distinctive clinical syndromes with unique features. Careful study of these subtypes of frontotemporal dementia, using combinations of new quantitative neuroimaging, behavioral and physiological measures are yielding important information about the functioning of the brain's frontal and temporal regions. As we come to better understand the biologic basis for the three FTD clinical syndromes, new classification schemas may emerge, but our current clinical criteria serve as a strong guide to the diagnosis and separation of FTD from Alzheimer disease and other dementias.

Diagnosis, Differential↗

PubMed2000

[Up-to=date view on medical documentation in surgical clinic].

Computer variants of the fragments of clinical records were developed. They represent the parts: "Title-page", "Examination of surgical patient in the admission department", "Protocol of laparoscopic cholecystectomy". During modelling of the intellectual contents of the modules the principle of the formalized protocol was used, which has been realized with use of a context-depending menu. According to the authors opinion, newly developed programs provide objective and correct reflection of any clinical and surgical situation, use of standardized terminology and classifications, save the surgeons the trouble of "scribbling" and decrease time-consuming registration of medical records, provide specialized information, prevent possible diagnostic and technical errors, and give physicians, legal defence.

Documentation↗

PubMed1979

[Mediastinoscopy and thoracotomy in bronchogenic carcinoma (V) (author's transl)].

The opinion of the Bronchogenic Carcinoma Cooperative Group is that mediastinoscopy is at present an irreplaceable method for the determination of the resection limits in patients with bronchogenic carcinoma. Mediastinoscopy cannot be replaced by roentgenologic or isotopic studies of the mediastinum, since the invasion of the ganglionar capsule or of the mediastinal fat can only be determined by histopathologic examination. Following a classification based on macro- and microscopic morphological criteria, surgery has achieved a 64 percent of thoracotomies with "presumably curative" resections. Patients with epidermoid carcinomas were the main candidates to surgery. Lastly the role of the so-called bronchogenic carcinoma "markers" or substances that can indirectly indicate the course of the disease is discussed. The value of humoral and cell-mediated immunologic studies for introducing other therapeutic variants after curative surgery is pointed out. The definite conclusions regarding the clinical and surgical therapeutic aspects of the Bronchogenic Carcinoma Cooperative Group are detailed.

Adenocarcinoma↗

PubMedDate not supplied

Juvenile psoriatic arthritis, or juvenile arthritis with psoriasis?

Juvenile psoriatic arthritis (JPsA) has traditionally been considered to be one of the spondyloarthropathies. Clinical and laboratory evidence had shed doubt on the appropriateness of its inclusion in this classification, however. It is suggested that included under the rubric of JPsA there are two or more conditions: one in which arthritis and psoriasis occur coincidentally, and a second in which psoriasis occurs with a characteristic pattern of joint involvement: asymmetric oligoarthritis affecting large and small joints, with or without dactylitis, chronic uveitis, and antinuclear antibodies. Whether it is appropriate to consider JPsA as a variant of juvenile rheumatoid arthritis, or as an entirely separate disorder is uncertain.

Arthritis, Juvenile↗

PubMed1990

[Classification of circumscribed scleroderma. A multicenter study of 286 patients. The Scleroderma Study Group of the Society of Dermatologic Research].

In a multicentre study performed by the German Working Group for Dermatological Research a total of 286 female and male patients with circumscribed scleroderma (morphoea) were examined with reference to form and extent of their skin manifestations (e.g. progressive idiopathic atrophodermia, Pasini-Pierini Type) and systemic involvement. On the basis of the literature and our observation of circumscribed scleroderma classification into three types appears to be appropriate: a plaque-type (with generalized circumscribed scleroderma as the most severe variant), a linear type (with pansclerotic disabling morphoea as the most severe variant) and a profound type (with eosinophilic fasciitis as the most severe variant).

Adolescent↗

PubMed1986

TdT activity in acute myeloid leukemias defined by monoclonal antibodies.

Blast cells from eight out of 71 patients diagnosed with acute myeloid leukemia (AML) by morphological, cytochemical, and immunological criteria showed TdT activity. Their distribution according to the FAB classification was one M1, one M2, one M4, two M5a, one M5b, one M6, and one undifferentiated case. The TdT+ AML cases did not show major clinical and hematological differences when compared with the classical TdT- AML patients. Other phenotypical aberrations in the expression of membrane antigens, apart from the presence of nuclear TdT, were not observed in these TdT+ cases after study with a large panel of monoclonal antibodies. A higher incidence of TdT+ cases was found among the monocytic variants of AML (M4 and M5)--four cases--than in the granulocytic variants (M1, M2, and M3)--2 cases. These TdT+ cases should be distinguished from mixed leukemias by double labeling techniques, assessing in the TdT+ AML the coexpression of TdT and myeloid markers in individual cells as shown in four of our cases.

Adult↗

PubMed2003

Human peroxisomal disorders.

Peroxisomes are single membrane-bound cell organelles performing numerous metabolic functions. The present article aims to give an overview of our current knowledge about inherited peroxisomal disorders in which these organelles are lacking or one or more of their functions are impaired. They are multiorgan disorders and the nervous system is implicated in most. After a summary of the historical names and categories, each having distinct symptoms and prognosis, microscopic pathology is reviewed in detail. Data from the literature are added to experience in the authors' laboratory with 167 liver biopsy and autopsy samples from peroxisomal patients, and with a smaller number of chorion samples for prenatal diagnosis, adrenal-, kidney-, and brain samples. Various light and electron microscopic methods are used including enzyme- and immunocytochemistry, polarizing microscopy, and morphometry. Together with other laboratory investigations and clinical data, this approach continues to contribute to the diagnosis and further characterization of peroxisomal disorders, and the discovery of novel variants. When liver specimens are examined, three main groups including 9 novel variants (33 patients) are distinguished: (1) absence or (2) presence of peroxisomes, and (3) mosaic distribution of cells with and without peroxisomes (10 patients). Renal microcysts, polarizing trilamellar inclusions, and insoluble lipid in macrophages in liver, adrenal cortex, brain, and in interstitial cells of kidney are also valuable for classification. On a genetic basis, complementation of fibroblasts has classified peroxisome biogenesis disorders into 12 complementation groups. Peroxisome biogenesis genes (PEX), knock-out-mice, and induction of redundant genes are briefly reviewed, including some recent results with 4-phenylbutyrate. Finally, regulation of peroxisome expression during development and in cell cultures, and by physiological factors is discussed.

Adrenoleukodystrophy↗

PubMed2000

A new classification for cervical vertebral injuries: influence of CT.

OBJECTIVE: Computed tomography (CT) has been demonstrated to be superior to radiography in identifying cervical vertebral injuries. However, many of these injuries may not be clinically significant, and require only minimal symptomatic and supportive treatment. It is therefore imperative that radiologists and spine surgeons have criteria for distinguishing between those injuries requiring surgical stabilization and those that do not. The authors propose a new classification of cervical vertebral injuries into two categories: major and minor. DESIGN AND PATIENTS: A data base, acquired on 1052 separate cervical injuries in 879 patients seen between 1983 and 1998, was reviewed. Four categories of injury based on mechanism [hyperflexion (four variants), hyperextension (two variants), rotary (two variants), and axial compression (five variants)] were identified. "Major" injuries are defined as having either radiographic or CT evidence of instability with or without associated localized or central neurologic findings, or have the potential to produce the latter. "Minor" injuries have no radiographic and/or CT evidence of instability, are not associated with neurologic findings, and have no potential to cause the latter. RESULTS AND CONCLUSIONS: Cervical injury should be classified as "major" if the following radiographic and/or CT criteria are present: displacement of more than 2 mm in any plane, wide vertebral body in any plane, wide interspinous/interlaminar space, wide facet joints, disrupted posterior vertebral body line, wide disc space, vertebral burst, locked or perched facets (unilateral or bilateral), "hanged man" fracture of C2, dens fracture, and type III occipital condyle fracture. All other types of fractures may be considered "minor".

Cervical Vertebrae↗

PubMed1992

Split cord malformation: Part I: A unified theory of embryogenesis for double spinal cord malformations.

Much confusion still exists concerning the pathological definitions and clinical significance of double spinal cord malformations. Traditional terms used to describe the two main forms of these rare malformations, diastematomyelia and diplomyelia, add to the confusion by their inconsistent usage, ambiguities, and implications of their dissimilar embryogenesis. Based on the detailed radiographic and surgical findings of 39 cases of double cord malformations and the autopsy data on two other cases, this study endorses a new classification for double cord malformations and proposes a unified theory of embryogenesis for all their variant forms and features. The new classification recommends the term split cord malformation (SCM) for all double spinal cords. A Type I SCM consists of two hemicords, each contained within its own dural tube and separated by a dura-sheathed rigid osseocartilaginous median septum. A Type II SCM consists of two hemicords housed in a single dural tube separated by a nonrigid, fibrous median septum. These two essential features necessary for typing, the state of the dural tube and the nature of the median septum, do not ever overlap between the two main forms and can always be demonstrated by imaging studies so that accurate preoperative typing is always possible. All other associated structures in SCM such as paramedian nerve roots, myelomeningoceles manqué, and centromedian vascular structures frequently do overlap between types and are not reliable typing criteria. The unified theory of embryogenesis proposes that all variant types of SCMs have a common embryogenetic mechanism. Basic to this mechanism is the formation of adhesions between ecto- and endoderm, leading to an accessory neurenteric canal around which condenses an endomesenchymal tract that bisects the developing notochord and causes formation of two hemineural plates. The altered state of the emerging split neural tube and the subsequent ontogenetic fates of the constituent components of the endomesenchymal tract ultimately determine the configuration and orientation of the hemicords, the nature of the median septum, the coexistence of various vascular, lipomatous, neural, and fibrous oddities within the median cleft, the high association with open myelodysplastic and cutaneous lesions, and the seemingly unlikely relationship with fore and midgut anomalies. The multiple facets of this theory are presented in increasing complexity against the background of known embryological facts and theories; the validity of each facet is tested by comparing structures and phenomena predicted by the facet with actual radiographic, surgical, and histopathological findings of these 41 cases of SCM.

Adolescent↗

PubMed1990

Myeloid cell differentiation in normal bone marrow and acute myeloid leukemia assessed by multi-dimensional flow cytometry.

A detailed analysis of normal myeloid differentiation was performed using mutlidimensional flow cytometry. Based on two light scattering and three color immunofluorescence signals, the normal maturation pathways of both the monocyte and neutrophil lineages could be elucidated. Gradual changes of light scattering properties and cell surface antigen expression defined the pathways of each of the lineages. The consistency of the location of these lineage specific pathways found in normal individuals provided the basis for the discrimination between normal and leukemic cells in acute myeloid leukemia (ANLL). The position of leukemic cells in patients with ANLL in a five-dimensional space was compared with the position of the maturation tracks in normal individuals. The expression of normal antigens on leukemic cells provided the tools to: (1) distinguish normal from clonal populations of leukemic cells in all 15 patients; (2) detect a lineage predominance, either monocytic or neutrophilic, in all 15 patients; (3) detect maturation heterogeneity in all 15 patients. Although maturation pathways of the monocytic and the neutrophilic lineages were analogous to the normal patterns they were distinct in several ways. The expression of normal antigens on leukemic cells may provide the tools to: (1) obtain a new frame-work for classification of leukemia based on the ability to quantify the aberrant antigen expression and to define a 'distance from normal' based on the characteristics studied (the maturation heterogeneity of the leukemic cells also can be correlated with the clinical outcome of the patients); (2) detect minimal residual disease using the difference in locations of the leukemic cells in the multidimensional space from the normal maturation pathways (3) monitor relapse and changes in phenotypes which may accompany chemotherapy, suggesting the appearance of variant or new clones.

Antibodies, Monoclonal↗

PubMed2005

Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.

The inherited osteolysis syndromes are a heterogeneous group of skeletal disorders whose classification is still uncertain. Three osteolysis syndromes show autosomal recessive inheritance and multicentric involvement: Torg syndrome (OMIM 259600), Winchester syndrome (OMIM 277950) and Nodulosis-Arthropathy-Osteolysis syndrome (NAO; OMIM 605156). The 2001 Nosology of the International Skeletal Dysplasia Society (Hall CM, Am J Med Genet 2002: 113: 65) classifies NAO as a variant of Torg syndrome, while Winchester syndrome is considered as a separate disorder. Recently, mutations in the matrix metalloproteinase 2 (MMP2) gene were identified in affected individuals with a clinical diagnosis of NAO in two Arab families. We report a homozygous missense mutation (E404K) in the active site of MMP2 in a 21-year-old woman with a severe form of osteolysis best compatible with a diagnosis of Winchester syndrome. The clinical and molecular findings suggest that Torg, NAO and Winchester syndromes are allelic disorders that form a clinical spectrum.

Adult↗

PubMed2004

A case of multiple keratoacanthoma centrifugum marginatum.

BACKGROUND: Keratoacanthoma centrifugum marginatum is a rare variety of keratoacanthoma, usually presented and classified as solitary keratoacanthoma. Reported cases of multiple keratoacanthoma centrifugum marginatum are exceptional in the literature. OBSERVATIONS: A 21-year-old man presented for evaluation of erythematous papules and plaques on both legs that had had a peripheral growth over the past year. Clinical and histologic examination showed typical features of keratoacanthoma centrifugum marginatum. Owing to the multiplicity and size of the lesions, treatment with oral isotretinoin was started. It was ineffective. Subsequent treatment with methotrexate combined with oral prednisone led to the regression of all lesions. CONCLUSIONS: The exceptional case of a man with multiple keratoacanthoma centrifugum marginatum is reported. Treatment with methotrexate combined with oral prednisone was effective. This case illustrates how some variants of keratoacanthomas do not really fit into the current classification and how complex the treatment of these tumors is.

Administration, Oral↗

PubMed1992

[Calcium metabolism in various forms of hypertrophy of the "hypertensive" heart].

To study the changes occurred in integral calcium metabolic parameters in evolving "hypertensive" heart, a total of 100 patients with Stage I-II (WHO Classification) were examined. Myocardial structure and function were echocardiographically examined. Plasma concentrations of ionized calcium were measured by direct potentiometry. Plasma levels of calcitonin and parathyroid hormone were measured by radioimmunoassay. As the "hypertensive" heart progressed, the ionization of serum calcium was found to enhance along with an increase in calcitoninemia. In early formation of the "hypertensive" heart, parathyroid hormone remained unchanged, but became elevated only in severe left ventricular hypertrophy. The findings may explain the features of the clinical aspects of variant left ventricular hypertrophies in the "hypertensive" heart.

Calcitonin↗

PubMed2002

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.

OBJECTIVE: Familial cold urticaria (FCU) and Muckle-Wells syndrome (MWS) are dominantly inherited autoinflammatory disorders that cause rashes, fever, arthralgia, and in some subjects, AA amyloidosis, and have been mapped to chromosome 1q44. Sensorineural deafness in MWS, and provocation of symptoms by cold in FCU, are distinctive features. This study was undertaken to characterize the genetic basis of FCU, MWS, and an overlapping disorder in French Canadian, British, and Indian families, respectively. METHODS: Mutations in the candidate gene NALP3, which has also been named CIAS1 and PYPAF1, were sought in the study families, in a British/Spanish patient with apparent sporadic MWS, and in matched population controls. Identified variants were sought in 50 European subjects with uncharacterized, apparently sporadic periodic fever syndromes, 48 subjects with rheumatoid arthritis (RA), and 19 subjects with juvenile idiopathic arthritis (JIA). RESULTS: Point mutations, encoding putative protein variants R262W and L307P, were present in all affected members of the Indian and French Canadian families, respectively, but not in controls. The R262W variant was also present in the subject with sporadic MWS. The V200M variant was present in all affected members of the British family with MWS, in 2 of the 50 subjects with uncharacterized periodic fevers, and in 1 of 130 Caucasian and 2 of 48 Indian healthy controls. No mutations were identified among the subjects with RA or JIA. CONCLUSION: These findings confirm that mutations in the NALP3/CIAS1/PYPAF1 gene are associated with FCU and MWS, and that disease severity and clinical features may differ substantially within and between families. Analysis of this gene will improve classification of patients with inherited or apparently sporadic periodic fever syndromes.

Adult↗

PubMed2006

Complications of pulmonary resection: postpneumonectomy pulmonary edema and postpneumonectomy syndrome.

Bassed on the authors' review of the unusual variants of PPS and the body of published experience, a revision of the current classification scheme for PPS into a more comprehensive form is justified as follows: (1) by the nature of obstruction; and (2) by the time of onset. This classification encompasses early and late symptom onset, as well as considering both airway and vascular compression. This scheme argues in favor of an expanded cardiac work-up in addition to the measures outlined previously for airway assessment. Althought PPS remains a rare clinical entity, the refinement in the understanding of this condition and the evolution of treatment options have vastly improved patient outcomes. A careful evaluation of the patient must be done before embarking on treatment owing to the numerous etiologies for progressive dyspnea in the pneumonectomy patient.

Bronchial Diseases↗

PubMed2002

Pulmonary large cell carcinomas with neuroendocrine features are high-grade neuroendocrine tumors.

BACKGROUND: In 1999, the World Health Organization (WHO) categorized large cell carcinoma with neuroendocrine features as variants of large cell carcinoma and reclassified neuroendocrine lung tumors, especially typical and atypical carcinoid tumors. However, to date, the clinical relationship between these categories of neuroendocrine lung tumors has not been clearly defined. METHODS: We analyzed 133 cases of neuroendocrine tumors from primary lung carcinoma cases surgically resected. Using electron microscopy and immunohistochemical staining, we classified these cases as typical carcinoid (TC), atypical carcinoid (AC), large cell carcinoma with neuroendocrine features (LCNF), or small cell lung carcinoma (SCLC) based upon the WHO classification. RESULTS: TC and AC tumors were not related to smoking (p < 0.001) and, unlike LCNF, were found in younger patients (p < 0.001) without a male predominance (p < 0.001). Multivariate analysis revealed that LCNF predicted poorer overall and disease-free survivals comparable with SCLC (overall survival, p = 0.019, hazards ratio, 6.34; disease-free survival, p = 0.007, hazards ratio, 8.19). CONCLUSIONS: The prognoses of LCNF are comparable with those of SCLC, and LCNF should be classified as high-grade neuroendocrine tumors.

Adolescent↗