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PubMed1991

Identification of two new antigenic subgroups within the genus Mobiluncus.

Classifications of 48 atypical clinical isolates of Mobiluncus spp. were determined on the basis of biochemical reactions, morphology, antigenic profiles, and DNA hybridization studies. Two new subgroups with unique antigenic profiles are described. Like typical Mobiluncus species, the antigenic variant of M. mulieris is associated with bacterial vaginosis. The atypical isolates of M. curtisii were frequently recovered from women with normal vaginal flora and were also recovered from sterile body sites. These isolates may be incorrectly identified if current biochemical and morphological criteria are used for identification. Gram stain morphology, however, correctly identifies these isolates to the species level. The characterization of these atypical isolates has important implications for future investigations in which serological methods are used for diagnosis, epidemiology, and determination of pathogenicity of Mobiluncus spp.

Antigenic Variation↗
PubMed1999

Clinical range and MRI in Creutzfeldt-Jakob disease with heterozygosity at codon 129 and prion protein type 2.

A 68 year old woman with sporadic Creutzfeldt-Jakob disease is described, who neither showed characteristic EEG abnormalities nor a positive test of the neuronal protein 14-3-3 or neuron specific enolase (NSE) in CSF, despite a clinical presentation with ataxia of cerebellar type, rapidly progressive dementia, myoclonus, and marked hyperintense signal abnormalities in the deep cortical layers and the basal ganglia on T2 and diffusion weighted MRI. Moreover she showed atypical clinical features with a syndrome of inappropriate antidiuretic hormone (ADH) secretion (SIADH) and a peripheral sensorimotor polyneuropathy. Whether these disturbances are independent of Creutzfeldt-Jakob disease or a feature of it is discussed. It has recently been shown that in Creutzfeldt-Jakob disease different clinical and pathological phenotypes correlate with the polymorphism at codon 129 of the prion protein gene (PRNP) and the type of the protease resistant fragment that accumulates in the brain. According to the new classification at least six sporadic variants of Creutzfeldt-Jakob disease exist. The molecular genetic analysis showed heterozygosity of PRNP at codon 129 for methionine and valine and the presence of PrP(CJD) type 2 in the brain of this patient. As a new feature of changes on MRI, striking cortical changes of hyperintense signals are described in diffusion weighted as well as T2 weighted MRI that directly correlate with the histomorphological spongy degeneration of the brain in this region. In cases of rapidly progressive dementia, Creutzfeldt-Jakob disease always needs to be considered even if unusual features are present and current diagnostic criteria are not in favour of this disease.

Aged↗
PubMed2003

Cytotoxic/natural killer cell cutaneous lymphomas. Report of EORTC Cutaneous Lymphoma Task Force Workshop.

BACKGROUND: Cutaneous lymphomas expressing a cytotoxic or natural killer (NK) cell phenotype represent a group of lymphoproliferative disorders for which there is currently much confusion and little consensus regarding the best nomenclature and classification. METHODS: This study analyzes 48 cases of primary cutaneous lymphoma expressing cytotoxic proteins and/or the NK cell marker, CD56. These cases were collected for a workshop of the European Organization for Research and Treatment of Cancer Cutaneous Lymphoma Task Force, to better clarify the clinical, morphologic, and phenotypic features of these uncommon tumors. RESULTS: Several categories with different clinical and pathologic features were delineated: 1) aggressive, CD8+, epidermotropic, cytotoxic T-cell lymphoma; 2) mycosis fungoides, cytotoxic immunophenotype variant; 3) subcutaneous panniculitis-like T-cell lymphoma; 4) NK/T-cell lymphoma, nasal type; 5) CD4+, NK cell lymphoma; 6) blastoid NK cell lymphoma; (7) intravascular NK-like lymphoma; and 8) cytotoxic, peripheral T-cell lymphoma. CONCLUSIONS: Our data show that primary cutaneous cytotoxic/NK cell lymphomas include distinct groups of diseases, clinically, histologically, and biologically. Because the finding of a cytotoxic phenotype often has prognostic significance, the routine use of cytotoxic markers in the diagnosis and classification of cutaneous lymphomas should be expanded.

CD4-Positive T-Lymphocytes↗
PubMed1983

Adult non-Hodgkin's lymphoma. Correlation of cell surface marker phenotype with prognosis, the new working formulation, and the Rappaport and Lukes-Collins histomorphologic schemes.

The interrelationships between histomorphologic classification, cell surface marker phenotype and prognosis were prospectively studied in 130 adults with non-Hodgkin's lymphomas. Within each of the classification schemes used there were certain histologic variants that exhibited heterogeneity of cell lineage as well as those that were extremely uniform. Diffuse lymphomas with cell populations consisting of large cells, or mixtures of large and small cells were the most heterogeneous phenotypically and were most resistant to precise definition of immunologic cell lineage. The new Working Formulation for Clinical Usage likewise exhibited considerable heterogeneity of phenotype even within well defined histomorphologic categories. Two immunologic phenotypic variables that conferred a significant favorable prognosis were the expression of surface membrane immunoglobulin (B derivation) and the simultaneous expression of a membrane mu and delta immunoglobulin heavy chain. The results of this study suggest that cell surface marker phenotypic determinations have well defined and potentially useful correlations with histomorphologic classification schemes, and are useful in predicting biologic behavior and prognosis. It is suggested that a knowledge of both immunologic phenotype and histomorphologic characteristics is necessary in formulating therapeutic decisions.

Humans↗
PubMed2004

Ophthalmoplegic migraine.

Ophthalmoplegic migraine is a rare condition, previously thought to represent a variant of migraine. Recent observations regarding its usual clinical presentation and common magnetic resonance imaging findings have given rise to speculation that this illness is more likely to represent an inflammatory cranial neuropathy. The recent revision of the International Headache Classification has reclassified ophthalmoplegic migraine from a subtype of migraine to the category of neuralgia. In this article, potential pathophysiological mechanisms are discussed. The typical clinical presentation of ophthalmoplegic migraine generally involves transient migraine-like headache accompanied by often long-lasting oculomotor, abducens or, rarely, trochlear neuropathy with diplopia and (if oculomotor nerve is involved) pupillary abnormalities and ptosis. Ophthalmoplegic migraine generally occurs in children, but a number of adult cases have been reported. Prognosis is good because symptoms almost always resolve, but, after several episodes, some deficits may persist. Differential diagnosis is rather large, although most other possible causes of ophthalmoplegia and headache have distinctive presentations or can be excluded with fairly straightforward diagnostic testing. Optimal prophylactic and acute treatment is still unclear, but migraine prophylactic medications such as b blockers and calcium channel blockers have been proposed. Steroids have been used with mixed results.

Adult↗
PubMed1999

Relative frequencies and sites of presentation of lymphoid neoplasms in a community hospital according to the revised European-American classification.

Relative frequencies for common subtypes in the revised European-American classification of lymphoid neoplasms (REAL classification) have been reported. We determined the relative frequencies and sites of presentation of REAL subtypes at a 700-bed community hospital in central Illinois. A database was used to identify and prospectively catalogue all newly diagnosed lymphoid neoplasms from July 1, 1995 to March 1, 1998. The approach to diagnosis and subtyping incorporated morphologic features, immunophenotype, and clinical findings according to criteria proposed in the REAL classification. Of 347 lymphoid neoplasms diagnosed, 319 were subtyped in the REAL classification. Of these, 261 were B-cell neoplasms, 21 were T-cell neoplasms, and 37 were Hodgkin disease variants. Chronic lymphocytic leukemia/small lymphocytic lymphoma/prolymphocytic leukemia, diffuse large cell, and follicle center neoplasms were the most common B-cell subtypes. Large granular lymphocyte leukemia was the most common T-cell neoplasm. Nodular sclerosis was the most common Hodgkin disease variant. The relative frequencies in a US community hospital setting are similar to those reported in other studies. Differences are attributable to patient selection criteria, study group geographic location and racial composition, and/or referral patterns. Diverse REAL classification subtypes may be expected in US community hospitals.

Adolescent↗
PubMed1993

Medullary carcinoma of the thyroid with carcinoid-like features.

AIMS: To show that medullary carcinomas of the thyroid are morphologically indistinguishable from gut carcinoids: the value of histochemistry in their identification and differential diagnosis from metastatic carcinoid tumours to the thyroid and some follicular cell neoplasms. METHODS: 15 thyroid medullary carcinomas with features of gut carcinoids were histochemically studied for the presence of argyrophil and argentaffin granules, and calcitonin, thyroglobulin, and serotonin immunoreaction. RESULTS: Histological features of midgut (classic) carcinoids were observed in two tumours, foregut carcinoids in 12, and hindgut carcinoids in one. All tumours showed, to a greater or lesser extent, a calcitonin immunoreaction and argyrophilia. These markers were present only in a small area showing a classic pattern of thyroid medullary carcinoma in the hindgut carcinoid-like neoplasm. Argentaffin granules and serotonin immunostaining occurred in occasional cells from four foregut carcinoid-like tumours. Thyroglobulin was not expressed in all cases and amyloid stroma was expressed in three. CONCLUSIONS: In some cases a diagnosis of metastatic carcinoid tumour to the thyroid can be considered only after ruling out clinically and histochemically medullary carcinoma of the thyroid. Immunolocalisation techniques are also essential for the differentiation between medullary carcinoma and thyroid follicular cell neoplasms that resemble carcinoid tumours. It is proposed that this tumour variant to be incorporated into current classifications as another histological subtype of C cell carcinoma.

Adult↗
PubMed1990

[The classification of chronic pancreatitis].

To make the II Marseilles Classification of Pancreatitis more applicable to everyday clinical practice, a new systemic approach is suggested basing on clinical, laboratory, CT and ultrasound evidence. Upon examination of 182 chronic sufferers with pancreatitis, interstitial--edematous, parenchymatous, fibrous--sclerotic (indurative), hyperplastic (pseudotumorous) and cystic variants of the disease were established in 34.6%, 30%, 21.1%, 4.4% and 9.9%, respectively. Clinical features typical for each variant of the disease and most common complications are reviewed.

Chronic Disease↗
PubMedDate not supplied

Myotonia levior: contribution to the nosography.

Two family are described affected by a mild myotonic syndrome, characterized by almost exclusively presence of myotonic phenomenon, in absence of symptoms as muscular weakness, hypotrophy or hypertrophy ("myotonia levior"). The nosographic classification of this disease in the congenital myotonias is today uncertain, and it could be a case of a low expressivity variant of the dominant form (Thomsen disease), or the heterozygotic phenotype of the recessive form (Becker disease). Family history, clinical and electrophysiological data obtained in the patients seem to support first hypothesis, providing an useful element for a correct genetic counselling in these cases.

Adult↗
PubMed2000

New strategies for the treatment of acute myelogenous leukemia: differentiation induction--present use and future possibilities.

A differentiation block and an accumulation of immature myeloid cells characterize acute myelogenous leukemia (AML). However, native AML cells usually show some morphological signs of differentiation that allow a classification into different subsets, and further differentiation may be induced by exposure to various soluble mediators, for example, all-trans retinoic acid (ATRA) and several cytokines. Combination therapy with ATRA and chemotherapy should now be regarded as the standard treatment of the acute promyelocytic leukemia (APL) variant of AML. Although several agents can also induce leukemic cell differentiation for other AML subgroups, in vitro studies as well as clinical data have demonstrated that these agents often have heterogeneous effects on the leukemic progenitors. This makes the clinical impact of differentiation induction therapy for individual patients difficult to predict. However, differentiation induction should be regarded as a promising therapeutic approach, especially as a part of immunotherapy or in combination with intensive chemotherapy to increase the susceptibility of AML blasts to drug-induced apoptosis. Although the morphology-based French-American-British classification was used to identify APL as an AML subset that required a special treatment, it seems unlikely that this classification alone can be used to identify new subsets of AML patients with special therapeutic requirements. Future studies on differentiation induction in AML should therefore focus on A) the identification of therapeutic agents with more predictable effects; B) the use of clinical and laboratory parameters to define new subsets of AML patients in which differentiation induction has a predictable and beneficial effect, and C) the characterization of how AML blast sensitivity to drug-induced apoptosis is altered by differentiation induction.

Apoptosis↗
PubMedDate not supplied

[The association between post anoxic encephalopathy and startle epilepsy].

INTRODUCTION: The startle is a variant of primitive physiological reflex, present in developed animals. It could be defined as a sudden defensive reaction triggered by an adequate sensorial stimulus, most effective if auditory, consisting under a clinical basis on the sudden and sequential contraction of some muscular groups, in first place affecting the facial territory (orbicularis oculi bilaterally), followed by the rest of the cranial nerves, the axial musculature and finally the limbs, predominantly proximal and flexor regions of superior extremities. The pathological startle is that which is precipitated by inadequate stimulus and excessive in response to it (under a low level of intensity or duration). It appears on account of different causes and mechanisms, among them a peculiar form of reflex epilepsy, the startle epilepsy. This form of epilepsy commonly present on infant postanoxic encephalopathy, shares its clinical features with other causes of pathologic startle, even though it presents a very characteristic electroencephalographic semiology. CASE REPORT: We present the case of a child with a startle epilepsy clinically presented as a form of subintrant status epilepticus under the context of a postanoxic encephalopathy secondary to drowsiness. With an adequate treatment it was possible to eliminate the epileptic phenomena, thus notoriously improving his quality of life (vigil and asleep). CONCLUSION: We review the characteristics and classifications of a variant of reflex epilepsy, the startle epilepsy.

Child, Preschool↗
PubMed1986

The clinical significance of blast cell morphology in childhood lymphoblastic leukaemia.

The morphological classification of ALL based on the FAB co-operative group's criteria is capable of identifying 10-15% of children with L2 disease who, given similar treatment, will fare less well than the 85-90% with the L1 variant. The significant features defining L2 morphology are a low cellular nuclear: cytoplasmic ratio and the presence of nucleoli. Children with L2 disease do not have higher leucocyte counts but are older, have "common" ALL less frequently, and more often have well-preserved marrow function at diagnosis. Their poor outlook is manifest not only by their higher relapse rate but also by a higher proportion failing to remit in the first instance. L2 morphology does not necessarily "breed true" and can arise in a small proportion of patients with previous L1 disease at the time of relapse. Other striking morphological features of lymphoblasts, including azurophil granules, vacuoles and "hand mirror" cells, have yet to have their significance defined, though the latter feature may be an unfavourable finding.

Child↗
PubMed1999

[Hereditary motor-sensory neuropathies (Charcot-Marie-Tooth syndrome) and related neuropathies. Current classification and genotype-phenotype correlation].

Charcot-Marie-Tooth (CMT) disease is the most common inherited disorder of the peripheral nervous system with an incidence of 40:100,000. Clinically, it is characterized by distal muscle weakness and wasting, primarily of the legs and later of the arms, foot deformity, diminished or absent tendon reflexes, and mild-to-moderate sensory loss. Molecular genetic studies over the past 2 decades have revealed the genetic heterogeneity of this disorder and the identification of different genes or gene loci, respectively. Therefore, a current CMT classification though constantly changing due to ongoing detection of further genetic defects must take into consideration both phenotypic and genotypic criteria. Since certain clinical features appear to be associated with specific genetic subtypes, we provide a detailed description of characteristic phenotypic variants to facilitate differential diagnosis and allow more precise referral to subsequent genetic investigations.

Charcot-Marie-Tooth Disease↗
PubMed2006

Octaplex PCR and fluorescence-based capillary electrophoresis for identification of human diarrheagenic Escherichia coli and Shigella spp.

A multiplex PCR assay, amplifying seven specific virulence genes and one internal control gene in a single reaction, was developed to identify the five main pathotypes of diarrheagenic Escherichia coli and Shigella spp. The virulence genes selected for each category were Stx1, Stx2, and eaeA for enterohemorrhagic E. coli (EHEC), eaeA for enteropathogenic E. coli (EPEC), STIb and LTI for enterotoxigenic E. coli (ETEC), ipaH for enteroinvasive E. coli (EIEC) and Shigella spp., and aggR for enteroaggregative E. coli (EAEC). Each forward primer was labelled with a fluorochrome and the PCR products were separated by multicolour capillary electrophoresis on an ABI PRISM310 Genetic Analyzer (Applied Biosystems). If present, several gene variants of each virulence gene were identified. The internal control gene rrs, encoding 16S rRNA, was amplified in all 110 clinical strains analyzed. Virulence genes were demonstrated in 103 (94%) of these strains. In the majority of the cases (98/103, 95%), classification obtained by the novel multiplex PCR assay was in agreement with that previously determined by phenotypic assays combined with other molecular genetic approaches. Numerous multiplex PCR assays have been published, but only a few of them detect all five E. coli pathotypes within a single reaction, and none of them has used multicolour capillary electrophoresis to separate the PCR products. The octaplex PCR assay followed by capillary electrophoresis presented in the present paper provides a simple, reliable, and rapid procedure that in a single reaction identifies the five main pathotypes of E. coli, and Shigella spp. This assay will replace the previous molecular genetic methods used in our laboratory and work as an important supplement to the more time-consuming phenotypic assays.

Adhesins, Bacterial↗
PubMed2004

A new type of minocycline-induced cutaneous hyperpigmentation.

Pigmentary disorders are recognized adverse effects of the semi-synthetic tetracycline derivative antibiotic, minocycline. Three distinct types of minocycline-induced cutaneous pigmentation have been described. Type I, blue-black pigmentation confined to sites of scarring or inflammation on the face; Type II, blue-grey circumscribed pigmentation of normal skin of the lower legs and forearms; and Type III, diffuse muddy brown pigmentation of normal skin accentuated in sun-exposed areas. We report two patients with acne vulgaris with a fourth type of minocycline-induced cutaneous pigmentation. They presented with circumscribed blue-grey pigmentation within acne scars confined to the back. Histology showed pigment within dendritic cells, and extracellularly throughout the dermis. Histochemistry identified a calcium containing melanin-like substance. Iron was absent. Immunohistochemistry confirmed some pigment-containing cells to be macrophages. Electron microscopy demonstrated electron-dense granules, free and membrane-bound, within macrophages and fibroblast-like cells. Energy-dispersive X-ray analysis confirmed the presence of calcium. Iron was absent. This fourth type of cutaneous minocycline hyperpigmentation may be a variant of Type I, but based on clinical, pathological and microanalytical differences, appears to be a new entity. The pigment may be a drug metabolite-protein complex chelated with calcium, or an insoluble minocycline-melanin complex. We propose a classification of cutaneous minocycline pigmentation based on clinico-pathological criteria.

Acne Vulgaris↗
PubMed2005

Autopsy case of CD4/CD8 cutaneous T-cell lymphoma presenting disseminated pagetoid reticulosis with aggressive granulomatous invasion to the lungs and pancreas.

Pagetoid reticulosis is a rare cutaneous T-cell lymphoma with striking epidermotropism similar to that present in Paget's disease. There are two forms of pagetoid reticulosis: localized and disseminated. Reported herein is an autopsy case of disseminated pagetoid reticulosis with CD4(-)/CD8(-) phenotype T cells and massive invasion of the lungs and pancreas. The abnormal cells in the epidermis expressed a protein derived from a rearranged T-cell receptor beta gene, and this feature was used to confirm the monoclonality of these cells by polymerase chain reaction. At present, the World Health Organization (WHO) classification system considers pagetoid reticulosis to be an indolent form of primary cutaneous T-cell lymphoma and a variant of mycosis fungoides/Sezary syndrome with prominent epidermotropism. Some differences have been observed between pagetoid reticulosis and mycosis fungoides in terms of clinical course, tumor cell phenotype, and genetic findings; and these differences are highlighted in the present case. The relation between disseminated pagetoid reticulosis, CD4(-)/CD8(-) cutaneous T-cell lymphoma, and gammadelta T-cell lymphoma, including whether pagetoid reticulosis is a variant of mycosis fungoides, remains unclear.

Autopsy↗
PubMed2003

Pathologic classification of focal segmental glomerulosclerosis.

Focal segmental glomerulosclerosis (FSGS) is defined as a clinical-pathologic syndrome manifesting proteinuria and focal and segmental glomerular sclerosis with foot process effacement. The pathologic approach to the classification of FSGS is complicated by the existence of primary (idiopathic) forms and multiple subcategories with etiologic associations, including human immunodeficiency virus (HIV)-associated nephropathy, heroin nephropathy, familial forms, drug toxicities, and a large group of secondary FSGS mediated by structural-functional adaptations to glomerular hyperfiltration. A number of morphologic variants of primary and secondary focal sclerosis are now recognized, including FSGS not otherwise specified (NOS), perihilar, cellular, tip, and collapsing variants. The defining features of these morphologic variants and of the major subcategories of FSGS are discussed with emphasis on distinguishing light microscopic patterns and clinical-pathologic correlations.

Disease Progression↗
PubMed2002

Dorsal bony septum: a split cord malformation variant.

Split cord malformations (SCMs) are rare spinal anomalies and their classification is still a matter of debate. There is no widespread consensus on the embryological basis of this entity. The unified theory, proposed by Pang et al. [Neurosurgery 1992;31:451-480], was an attempt to explain the embryogenetic mechanism as a basic error occurring around the time when the primitive neuroenteric canal closes. We report two unusual cases of SCMs with a dorsally situated bony spur. We analyzed the radiological, clinical and surgical features of the lesions and were not able to classify these cases according to the unified theory. Further embryological studies should be conducted to elucidate the mechanisms of occurrence of these lesions, and the dorsal bony septum variant should be considered in SCM surgery.

Child↗