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At least 307 records · Page 17Linked to original sources
PubMed2004

Lymphomatoid papulosis: reappraisal of clinicopathologic presentation and classification into subtypes A, B, and C.

OBJECTIVES: To analyze clinicopathologic features of lymphomatoid papulosis and delineate the characteristics of histopathologic variants (types A, B, and C). DESIGN: Retrospective nonrandomized study. SETTING: University-based dermatologic referral center. PATIENTS: Eighty-five patients with lymphomatoid papulosis. Clinical data and 1 or more biopsy specimens were available for review in all cases. When possible, immunophenotypic and molecular analyses were carried out. RESULTS: Of these patients, 78 presented only 1 histopathologic subtype of lymphomatoid papulosis (64 had type A, 3 had type B, and 11 had type C). The last 7 patients presented more than 1 subtype (1 had A and B, 5 had A and C, and 1 had A, B, and C). Two patients had regional lymphomatoid papulosis, an unusual clinical presentation characterized by groups of lesions localized to 1 anatomic region. We observed, we believe for the first time, that some histopathologic patterns, ie, follicular mucinosis (n = 1), syringotropic infiltrates (n = 1), epidermal vesicle formation (n = 2), and syringosquamous metaplasia (n = 1), were associated with lymphomatoid papulosis. A distribution along hair follicles, or follicular lymphomatoid papulosis, was observed in 5 biopsy specimens. A bandlike rather than a wedge distribution of the infiltrate was seen in 5 specimens from patients with lymphomatoid papulosis type A. Of 8 patients who had associated lymphoid malignancies, 4 had Hodgkin disease and 4 had mycosis fungoides. CONCLUSIONS: Lymphomatoid papulosis is a cutaneous disorder with multiple clinicopathologic features. Differentiating between mycosis fungoides and anaplastic large cell lymphoma may be very difficult and sometimes impossible. In the spectrum of CD30(+) cutaneous lymphoproliferative disorders, boundaries between these 2 entities are not clear-cut.

Adult↗
PubMed1981

Anal cloacogenic carcinoma: classification and clinical behavior.

A retrospective study of 35 patients with anal cloacogenic carcinomas showed that the histological characteristics of the tumors were correlated with their biological behavior. The basaloid squamous type of cloacogenic carcinoma was more common in women (3.6:1) and had a more favorable course in both men and women, with a mean survival of 5.0 years. Glandular variants of these tumors, with an adenocystic or mucoepidermoid pattern, occurred predominantly in men and had a more aggressive course, manifested by early metastases to inguinal and mesenteric lymph nodes, liver, and lung, with mean survival limited to 2.5 years. Nine of the 11 patients who survived longer than five years had the basaloid squamous histological pattern and were treated by abdominoperineal resection or pelvic exenteration; five of these patients also received postoperative therapy with radiation. The overall actual five-year survival for patients with anal cloacogenic carcinoma was 41% in this study. The histological pattern of anal cloacogenic carcinoma provides useful prognostic information to the clinician.

Adenocarcinoma↗
PubMed2004

Acute pustulosis of the legs in diverticulitis with sigmoid stenosis: an overlap between bowel-associated dermatosis-arthritis syndrome and pustular pyoderma gangrenosum.

BACKGROUND: Bowel-associated dermatosis-arthritis syndrome denotes the occurrence of diarrhoea with arthritis and skin lesions related to bowel disease with or without bowel bypass. In this condition, the histological finding of cutaneous aseptic neutrophilic cell infiltrate is non-specific and common to a wide spectrum of neutrophilic dermatoses, including pyoderma gangrenosum. OBSERVATION: We describe a 78-year-old woman with fever, abdominal discomfort and arthralgias, who developed grouped pustular lesions on her shins with histologically spongiform pustule formation. Aetiological assessment disclosed diverticular disease with sigmoid stenosis. CONCLUSION: Although clinical and histological features in our case fit the diagnosis of bowel-associated dermatosis-arthritis syndrome, they may also correspond to a pustular variant of pyoderma gangrenosum. Our observation raises the question of the nosological classification of bowel-associated dermatosis-arthritis syndrome within the spectrum of neutrophilic diseases.

Acute Disease↗
PubMed2005

Australian sporadic CJD analysis supports endogenous determinants of molecular-clinical profiles.

OBJECTIVE: To define the protease-resistant prion protein (PrPres) types and associated clinical profiles in Australian patients with sporadic Creutzfeldt-Jakob disease (CJD) to allow comparison with those reported from other continents and concomitantly reaffirm absence of variant CJD (vCJD). METHODS: Reassessment of available clinical and neuropathologic data on patients referred to the Australian National Creutzfeldt-Jakob Disease Registry (ANCJDR) who died between January 1, 1992, and June 30, 2003, was conducted. Molecular classification of PrPres was determined by immunoblot analysis of available frozen brain tissue. Brain homogenate pH and codon 129 genotype on the prion protein gene (PRNP) were established. RESULTS: PrPres patterns in 35 of 37 patients with sporadic CJD conformed to one of three common reported types. Of a range of clinical features assessed, illness duration was the only clinical feature significantly associated with PrPres type. Two patients displayed coexistence of more than one PrP type, with one displaying a novel pattern of three PrPres types in a single brain region. The absence of vCJD was reconfirmed, supported by the lack of the typical PrPres glycoform pattern. CONCLUSIONS: Given Australia's geographic isolation and environmental uniqueness, the general congruity of these results with those reported from other continents suggests that endogenous factors predominantly determine sporadic Creutzfeldt-Jakob disease (CJD) phenotypic subtypes or "strains." These results support a clinicopathologic classification system whereby both PrPres type and codon 129 genotype are utilized to most accurately depict phenotypic subtypes or strains of sporadic CJD.

Adult↗
PubMed2001

[Main principals of clinical diagnosis formation in peritonitis].

Based on great clinical experience (more 1000 patients) the author makes attempt to standardize classification of peritonitis. Bearing in mind the critical analysis of available peritonitis classifications, it is proposed to divide toxic phase of peritonitis (by K.S. Simonyan) into two variants--with poliorganic insufficiency or without it. This elaboration permits to make the treatment of the patients with general peritonitis more detailed. Besides, the changes were made in division of peritonitis by degree of generalization along peritoneum, it is proposed to distinguish only 4 types by abdominal exudate character that also determine the actions of surgeon. Individual surgical situations in various forms and types of peritonitis are analyzed. The own model of peritonitis classification permits to receive comparable immediate results of treatment.

Diagnosis, Differential↗
PubMed2002

Significance of genetic information in risk assessment and individual classification using silicosis as a case model.

Over the last decade the role of genetic data in epidemiological research has expanded considerably. We recently published a case-control study that evaluated the interaction between silica exposure and minor variants in the genes coding for interleukin-1alpha (IL-1alpha), interleukin-1 receptor antagonist (IL-1RA) and tumor necrosis factor alpha (TNFalpha) as risk factors associated with silicosis, a fibrotic lung disease. In contrast, this report uses data generated from these studies to illustrate the utility of genetic information for the purposes of risk assessment and clinical prediction. Specifically, this study will address how, given a known exposure, genetic information affects the characterization of risk groups. Relative operating characteristic (ROC) curves were then used to determine the impact of genetic information on individual classification. Logistic regression modeling procedures were used to estimate the predicted probability of developing silicosis. This probability was then used to construct predicted risk deciles, first for a model with occupational exposure only and then for a model containing occupational exposure and genetic main effects and interactions. Results indicate that the exposure-only model effectively captures an increasing relationship between predicted risk deciles and prevalence of observed silicosis cases. Individuals comprising the highest risk decile were almost four times as likely to have silicosis as opposed to the lowest risk decile. The addition of genetic data, however, substantially improved characterization of risk categories; the proportion of cases in the highest risk decile was almost eight times that in the lowest risk decile. However, the ROC curve and classification analysis demonstrated that the addition of genetic main effects and interactions did not significantly impact on prediction of the individual's case status. These results indicate that genetic information plays a valuable role in effectively characterizing risk groups and mechanisms of disease operating in a substantial proportion of the population. However, in the case of fibrotic lung disease caused by silica exposure, information about the presence or absence of the minor variants of IL-1alpha, IL-1RA and TNFalpha is unlikely to be a useful tool for individual classification.

Aged↗
PubMed1990

[Vector cardiography features of right ventricular activation delays: nosologic classification and clinical correlation].

Electrovectorcardiographic features of 150 patients showing right ventricular activation delays (RVAD) has been analyzed. This analysis of RAVD, especially for type I, which is the group with the widest morphologic variability, has permitted a more detailed classification: a type I with 5 subtypes, a type II with 1 subtype, a type III and an intermediate type between type II and III. Fifty-five per cent of the patients were included in type I and its variant and most were classified, often without cardiac disease, as belonging to the classic type I. Thirty per cent of RVAD were of type II; 12% of type III and the remaining were in the intermediate group between type II and III. The various morphologies, moreover, were correlated with the clinical picture: the classic type I was never seen in subjects with cardiac disease, while the others types and subtypes were present either in subjects with cardiac disease or in elderly subjects, also without relevant pathologies (senile heart, especially, the type IA") or in otherwise healthy subjects. In a medical-social context, checking for RVAD, in the absence of cardiac disease, might usefully avoid further investigation. It is underlined the usefulness of this correlation for clinical prognostic judgement.

Adolescent↗
PubMed1990

[A new variant of the popliteal artery compression syndrome].

The authors describe a new variant of the popliteal artery across the lateral head of the gastrocnemius muscle. Therefore a new more simple classification is proposed: type I-III. A further differentiation in subgroups as Ia, IIa according to Insua has no clinical value. A posterior approach to the popliteal artery gives a detailed view of the anatomic structures such as muscle and band origin. A medial incision should be chosen if crural reconstruction is expected.

Aneurysm↗
PubMed2026

Mast cell leukemia with complex genomic alterations in an elderly patient with prior hematologic and solid malignancies: a case report.

INTRODUCTION: Mast cell leukemia (MCL) is the rarest and most aggressive variant of systemic mastocytosis (approximately 1% of cases), with a median survival of under 2 years. Diagnosis requires ≥20% atypical mast cells in the marrow aspirate, and the disease frequently overlaps with myeloid neoplasms. CASE PRESENTATION: An 86-year-old man with paranasal sinus diffuse large B-cell lymphoma in remission since 2017 after R-CHOP and methotrexate, and prostate adenocarcinoma treated in 2019, presented with acute pancytopenia, presumed to represent lymphoma relapse. Serum tryptase exceeded 11 999 ng/mL; the aspirate showed 20% pleomorphic mast cells (CD117+, weak CD25, CD2-), confirming aleukemic MCL. Formal CMML criteria could not be confirmed due to the unavailability of monocyte differential data; however, the findings raised suspicion for an associated myeloid neoplasm, with SM with an associated hematological neoplasm remaining an alternative classification. Karyotyping was normal; next-generation sequencing revealed pathogenic variants in TP53, RB1, DAXX, ASXL1, TET2, and SRSF2, and a rare extracellular-domain KIT p.D419del. He declined inpatient midostaurin, deteriorated rapidly, and died 2 weeks later. CLINICAL DISCUSSION: This case illustrates a therapy-related MCL (plausible but unconfirmed given the non-leukemogenic profile of methotrexate and the focal nature of prostate stereotactic body radiation therapy) with a suspected associated myeloid neoplasm and complex pathogenic mutations. The KIT p.D419del extracellular domain variant is a rare non-D816V mutation; the canonical D816V was not detected on NGS, though the presence of a low-variant allele fraction D816V cannot be fully excluded due to assay sensitivity. Despite midostaurin, the disease remained aggressive. CONCLUSION: Persistent unexplained cytopenias warrant heightened suspicion of MCL, and comprehensive genomic profiling clarifies diagnosis, distinguishes overlapping myeloid disease, and informs prognosis in this aggressive, refractory neoplasm.

case report↗
PubMed2006

A review of autoimmune skin diseases in domestic animals: I - superficial pemphigus.

In humans, the pemphigus denomination encompasses a group of autoimmune blistering skin diseases with intraepidermal separation resulting from cell-cell detachment by acantholysis. Entities are classified based on the level of blistering in the epidermis, and both superficial (pemphigus foliaceus, IgA pemphigus) and deep (pemphigus vulgaris, pemphigus vegetans and paraneoplastic pemphigus) variants are recognized. In domestic animals, subsets of pemphigus have been recognized since the mid-1970s, and the disease classification resembles that used for human patients. This article reviews up-to-date knowledge on the epidemiology, clinical signs, histopathology, immunopathology and treatment outcome of superficial pemphigus in domestic animals. Detailed information on canine, feline, equine and caprine pemphigus foliaceus, canine and feline pemphigus erythematosus and canine panepidermal pustular pemphigus is provided.

Animal Diseases↗
PubMed2004

Adult Burkitt leukemia and lymphoma.

The World Health Organization Classification of Lymphoid Neoplasms identifies Burkitt lymphoma/leukemia as a highly aggressive mature B-cell neoplasm consisting of endemic, sporadic, and immunodeficiency-associated variants. These subtypes share many morphologic and immunophenotypic features, but differences exist in their clinical and geographic presentations. All of these subtypes possess chromosomal rearrangements of the c-myc oncogene, the genetic hallmark of Burkitt lymphoma that contributes to lymphomagenesis through alterations in cell cycle regulation, cellular differentiation, apoptosis, cellular adhesion, and metabolism. Brief-duration, high-intensity chemotherapy regimens containing aggressive central nervous system prophylaxis have had remarkable success in the treatment of this disease, with complete remission rates of 75% to 90% and overall survivals reaching 50% to 70% in adults. Although Burkitt lymphoma cells are extremely chemosensitive, biologically targeted therapies should be developed because current treatment options are suboptimal for patients with poor prognostic features or in the setting of relapsed disease.

Adult↗
PubMed1992

A cystic partially differentiated nephroblastoma producing alpha-fetoprotein.

A case of cystic partially differentiated nephroblastoma with immunohistochemical and serological demonstration of alpha-fetoprotein (AFP) production is described. To our knowledge, this is the first such case reported. The morphological heterogeneity of this rare tumor led us to describe the criteria of its nosological classification and of its differential diagnosis with intrarenal teratoma. AFP, besides being a marker of germline-derived tumor, was associated to this rare variant of Wilm's tumor. Although the tumor did not show regression either on clinical or pathologic assessments, serum AFP levels decreased after preoperative chemotherapy and returned to normal limits after nephrectomy.

Biomarkers, Tumor↗
PubMed1989

[Clinico-roentgenological characteristics of acute leukemia].

Combined clinico-roentgenological investigations of the thoracic organs, spleen, bone and lymphatic systems (using low lymphography) were conducted in 123 patients with acute leukemia. Clinico-roentgenological variants of acute leukemia have been distinguished, they differ in the organs and systems affected, in the process spreading by the lymphatic routes+, in the clinical course pattern and response to the treatment. Clinico-roentgenological variants of acute leukemia have shown that different pathogenetic mechanisms may act in the same cytomorphologic type of the disease. They should be taken into consideration in classification of acute leukemia.

Adolescent↗
PubMed1989

[Immunologic variants of acute lymphoblastic leukemia in adults and its correlation with cytochemical and various clinical parameters].

The authors provide data pertaining to the immunological phenotyping in the panel of monoclonal antibodies to various differentiating antigens of the leukemic cells in 27 patients with acute lymphoblastic leukemia (ALL). Based on the composition of the differentiating antigens of the leukemic cells the following immunological variants of the disease were identified: pre-B, pre-T and T-ALL--the thymic and mature (activated) ones. The phenotype was compared with the cytochemical parameters of the lymphoblasts of the identified immunological variants of ALL and with some clinical and hematological manifestations of the disease. The comparison of the data obtained during blast cell immunophenotyping with the cytochemical parameters and some clinicohematological findings suggests the development of a more fundamental classification of ALL in order to perfect the treatment of the patients suffering from ALL.

Adolescent↗
PubMed2026

Early infantile developmental and epileptic encephalopathy: clinical spectrum, diagnosis, outcomes, and evolving treatment strategies.

Early infantile developmental and epileptic encephalopathy (EIDEE) is among the most severe epilepsy syndromes, with onset before three months of age and an estimated incidence of approximately 10 per 100,000 live births. The 2022 International League Against Epilepsy classification unified the historically distinct Ohtahara syndrome and early myoclonic encephalopathy under a single diagnostic framework defined by frequent drug-resistant tonic and/or myoclonic seizures, an abnormal neurological examination, and an abnormal interictal electroencephalogram-most characteristically a burst-suppression pattern. This narrative review synthesizes the clinical, electrophysiological, neuroimaging, genetic, and therapeutic literature within the EIDEE framework. The clinical phenotype is characterized by central hypotonia, postnatal microcephaly, cortical visual impairment, and age-dependent syndromic evolution toward infantile epileptic spasms syndrome or Lennox-Gastaut syndrome in the majority of patients. Electroencephalography remains essential for syndromic classification, while systematic metabolic screening and early trio whole-exome or whole-genome sequencing are central to the etiologic workup, achieving diagnostic yields of 60-65%. The most commonly identified genetic causes include STXBP1, KCNQ2, and SCN2A variants. Outcomes are poor overall and strongly etiology-dependent: vitamin-responsive disorders carry a substantially more favorable prognosis, whereas mortality reaches 25% in genetic cohorts. Genotype-guided pharmacotherapy is now applicable to a clinically meaningful subset of patients, with sodium channel blockers, potassium channel openers, and emerging antisense oligonucleotide therapies representing important therapeutic advances. Gene therapy trials are underway but have encountered early safety signals, underscoring the vulnerability of this population. Critical unmet needs include earlier molecular diagnosis, precision therapies targeting developmental outcomes beyond seizure control, and prospective international registries to characterize the long-term natural history of EIDEE.

Humans↗
PubMed2001

Appropriate laboratory assessment as a critical facet in the proper diagnosis and classification of von Willebrand disorder.

The correct diagnosis and classification of von Willebrand disease or disorder (VWD) is crucial because the presenting biological activity of von Willebrand factor (VWF) determines both the haemorrhagic risk and the subsequent clinical management. A variety of laboratory assays may be employed, not necessarily restricted to assessments of VWF. Because of assay limitations and von Willebrand disease heterogeneity, no single test procedure is sufficiently 'robust' to permit the detection of all VWD variants. Classically, the test panel might include any combination of: (a) skin bleeding time, (b) von Willebrand factor antigen assay, (c) factor VIII C level, (d) assessment of 'functional' von Willebrand factor (collagen-binding activity or ristocetin co-factor assay), (e) ristocetin-induced platelet aggregation, and (f) multimer analysis. There have also been many new diagnostic developments that have begun to influence the diagnostic process. These include the automation of existing assay procedures, new automated platelet function analyzers such as the PFA-100, and specific von Willebrand factor-factor VIII-binding assays. This chapter focuses on the recommended laboratory process for the investigation of VWD. The selection of an appropriate combination test panel and testing sequence is crucial for the proper diagnosis and classification of congenital von Willebrand disease.

Clinical Laboratory Techniques↗
PubMed1996

Second generation hybrid polar compounds are potent inducers of transformed cell differentiation.

Hybrid polar compounds, of which hexamethylenebisacetamide (HMBA) is the prototype, are potent inducers of differentiation of murine erythroleukemia (MEL) cells and a wide variety of other transformed cells. HMBA has been shown to induce differentiation of neoplastic cells in patients, but is not an adequate therapeutic agent because of dose-limiting toxicity. We report on a group of three potent second generation hybrid polar compounds, diethyl bis-(pentamethylene-N,N-dimethylcarboxamide) malonate (EMBA), suberoylanilide hydroxamic acid (SAHA), and m-carboxycinnamic acid bis-hydroxamide (CBHA) with optimal concentrations for inducing MEL cells of 0.4 mM, 2 microM, and 4 microM, respectively, compared to 5 mM for HMBA. All three agents induce accumulation of underphosphorylated pRB; increased levels of p2l protein, a prolongation of the initial G1 phase of the cell cycle; and accumulation of hemoglobin. However, based upon their effective concentrations, the cross-resistance or sensitivity of an HMBA-resistant MEL cell variant, and differences in c-myb expression during induction, these differentiation-inducing hybrid polar compounds can be grouped into two subsets, HMBA/EMBA and SAHA/CBHA. This classification may prove of value in selecting and planning prospective preclinical and clinical studies toward the treatment of cancer by differentiation therapy.

Acetamides↗
PubMed1981

Correction of respiratory motion in hepatic scintigraphy.

An analog device to correct for respiratory motion was used in 100 consecutive liver scans to determine its clinical utility. The sets of scan images generated were reviewed separately, then together, without knowledge of clinical presentation or imaging technique. When the images were reviewed separately, there was no clinical significant change in patient classification. When the images were reviewed together, 57% of the patients had detectable differences in image features, and in most instances this difference was limited to a clearer definition of organ outline or normal variants (e.g., gallbladder fossa). Of the 17 patients with focal hepatic disease, 14 had these defects better defined or additional lesions identified. Of the 18 patients with definite, diffuse, nonhomogeneous tracer distribution as seen in the uncorrected images, 12 had changes in scan appearance with motion correction. In eight patients the scan pattern became more normal, but in four the abnormal pattern was modified to that of focal defects.

Humans↗