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PubMed1981

[Carcinoma of the major duodenal papilla].

The analysis of 134 postmortem cases and 65 clinical observations of carcinoma of the major duodenal papilla (MDP) has revealed different variants of development of carcinoma of MDP. The classification by the TNM system is made. In 34% of cases carcinoma was found to spread beyond the duodenum limit. Papillectomy should not be considered radical intervention. Average survival time after papillectomy was 17 months, after pancreatoduodenal resection it was 34 months. Fibroduodenoscopy, laparoscopic cholecystocholangiography in combination with relaxation duodenography was used for early diagnosis of carcinoma of MDP. Laparoscopic investigation was always accomplished by laparoscopic cholecystostomy which permitted avoiding hepatic insufficiency in the postoperative period.

Adult↗
PubMed2002

Kidney pathology: current classification of renal cell carcinoma.

This report discusses the new cytogenetic classification of renal cell carcinoma (RCC) and its biological and clinical significance. It describes the four major types (clear cell, chromophil, chromophobe, and collecting duct) as well as rarer entities, such as small cell carcinoma, cystic RCC, rhabdoid variant of RCC, and unclassified RCC. Sarcomatoid carcinomas are a diverse group representing high-grade transformation of the other types. In addition to a description of the pathologic findings, there is a discussion of tumor markers and prognostic indicators. The clinical significance of the classification is discussed, with reference to recent reports.

Carcinoma, Renal Cell↗
PubMed1989

Temporal lobe syncope: clinical variants.

Temporal lobe syncope (TLS) is a term coined by Landolt. Characteristically, the patient has psychomotor and drop attacks, and the interictal electroencephalogram (EEG) shows temporal lobe epileptic abnormalities. TLS is synonymous with type III complex partial seizures (CPSs) in the Delgado Escueta classification. Several variants of TLS can be recognized including atonic akinetic, simple akinetic, atonic, atonic-tonic complex (automatisms), sexual seizures, stress-induced convulsions, and gelastic atonic seizures. TLS must be distinguished from drop attacks of vertebrobasilar insufficiency and associated EEG abnormalities, and from hereditary tachyarrhythmias mimicking stress-induced convulsions. Epileptic falls and drop attacks are discarded by ictal EEG recordings. Recognition of TLS variants is important in the prospective evaluation of the surgical treatment of epilepsy given the past conflicting reports on the differential outcome of surgically treated CPSs. TLS is an attractive clinical term, easy to remember, and with pathophysiologic relevance to the clinician confronting the patient with a history of syncope and whose EEG discloses temporal lobe paroxysmal activity. The detailed ictal electrophysiology of TLS is unknown.

Adult↗
PubMed1980

Ovarian neoplasms resembling sex cord tumors with annular tubules.

A clinicopathologic analysis of 6 patients with ovarian neoplasms resembling sex cord tumors with annular tubules (SCTAT) was performed. The patients' ages ranged from 20 to 43 years. Most had signs and symptoms of estrogenic hormonal imbalance; none had evidence of the Peutz-Jeghers syndrome. The tumors were unilateral in all cases and, except for one lesion of microscopic size, were from 3 to 18 cm in greatest dimension. One tumor was combined with a germinoma. Surgery alone was the primary mode of therapy in all cases. Lymph nodal metastases developed in 2 patients 7.5 and 10.5 years postoperatively. They are the first documented examples of malignant behavior recorded. At the time of last known contact, all patients were alive without demonstrable tumor for intervals from 1.5 to 16.3 years (mean, 7.8 years) after initial treatment. While the annular patterns of growth have often been attributed to Sertoli cell differentiation, histologic and cytologic features of granulosa cell tumor were observed in areas of the primary tumors and in metastatic lesions. True lumen formation was never observed in the so-called tubules. We propose classification of SCTAT as a distinctive annular and membranous variant of granulosa cell tumor in view of the morphologic similarities and comparable clinical behavior of these two neoplasms.

Adult↗
PubMed1987

Small noncleaved follicular center cell lymphoma: Burkitt's and non-Burkitt's variants in the US. II. Pathologic and immunologic features.

The morphologic criteria for the two variants of small noncleaved follicular center cell (SNC FCC) lymphoma in the Lukes-Collins classification, Burkitt's (BL) and non-Burkitt's variants (NBL), were evaluated and related to the results of multiparameter laboratory and clinical studies. Forty-two patients were studied: 25 cases were classified as BL according to World Health Organization (WHO) criteria. Seventeen cases were classified as NBL on the basis of greater variability in nuclear size and shape, more prominent nucleoli, and greater variation in the amount of cytoplasm. Neoplastic follicles were present in three cases of BL and two of NBL, indicating an FCC origin for this lymphoma. Electron microscopic examination confirmed the light microscopic features. Immunoglobulin (Ig) monoclonality, as demonstrated by immunofluorescence (surface Ig) and/or immunoperoxidase staining for cytoplasmic immunoglobulin (CIg), was demonstrated in 21 of 24 (87.5%) of BL and 13 of 16 (71%) of NBL. Clinically, BL presented more frequently in extranodal sites and with gastrointestinal involvement than NBL. Bone marrow involvement was more common in NBL patients. Both groups had advanced stage disease at diagnosis. The median survival was 10.5 months in BL and 7.7 months in NBL. The results of this study indicate that BL and NBL are biologically related variants of SNC FCC lymphoma but have different presentations, which may be clinically significant.

Adolescent↗
PubMed1988

Histopathologic classification of small cell lung cancer. Changing concepts and terminology.

Considerable attention has been devoted to the diagnosis of small cell lung carcinoma (SCLC) and its subtypes. In the literature contradictory opinions have been published concerning the clinical implications of subtyping, largely because of the different criteria used by different pathologists. This article is a consensus report by the Pathology Committee of the International Association for the Study of Lung Cancer. The following classification of SCLC is recommended: (1) Small cell carcinoma. This subtype includes most of the tumors previously included in the oat cell and intermediate subtypes. More than 90% of untreated SCLC fall into this category. (2) Mixed small cell/large cell carcinoma. This subtype, which may be associated with a poor prognosis and response to therapy, contains a spectrum of cell types ranging from typical SCLC to larger cells having prominent nucleoli and resembling large cell carcinoma. (3) Combined small cell carcinomas. Typical SCLC elements are intimately admixed with areas of differentiated squamous cell or adenocarcinoma. This simplified classification of SCLC will facilitate uniformity in the diagnosis and further our understanding of the clinical significance of the rarer SCLC with variant morphologies.

Carcinoma, Small Cell↗
PubMedDate not supplied

The diagnosis of borderline personality disorder: problematic but better than the alternatives.

BACKGROUND: The purpose of this review is to examine empirical evidence concerning critiques of the diagnosis of borderline personality disorder (BPD): for uncertain validity, and for overlap with other mental disorders. METHODS: A review of the literature on the validity and comorbidity of BPD was conducted. RESULTS: Since BPD is a complex multidimensional construct, its validity is inevitably problematic, but no more so than most other psychiatric diagnoses. The comorbidity of BPD is probably an artefact of the current classification system, and there is no convincing evidence that BPD is a variant of an Axis I disorder. CONCLUSIONS: Although further research should lead to changes in classification, the diagnosis of BPD retains significant clinical utility.

Borderline Personality Disorder↗
PubMed2005

Clinicopathologic, immunophenotypic, and molecular cytogenetic fluorescence in situ hybridization analysis of primary and secondary cutaneous follicular lymphomas.

Although primary cutaneous follicular lymphoma (FL) is considered a distinct variant of FL in the World Health Organization classification ("cutaneous follicle center lymphoma"), its biologic relationship to nodal FL remains controversial. The clinical, morphologic, immunophenotypic, and molecular cytogenetic features of 17 patients with primary cutaneous FL were studied and compared with 16 patients with secondary cutaneous FL. The head and neck region was the most frequent site at initial skin presentation in both the primary and secondary cases. Among the primary cases, 29% of the 31 biopsies were grade 1, 48% grade 2, 13% grade 3, and 10% grade 3 with diffuse large B-cell (DLBCL) areas. Among the secondary cases, 38% of the 29 skin biopsies were grade 1, 45% grade 2, 3% grade 3, and 7% grade 3 with DLBCL areas with two not evaluable. A floral-like pattern was observed in 32% of primary FL but only 5% of secondary cases. Histologic progression was found in 21% of patients. CD10 expression was demonstrated in 90% (27 of 30) of primary cases and 96% (22 of 23) of secondary cases. Bcl-6 was expressed in all cases tested. Bcl-2 expression was detected in 57% (17 of 30) of the primary cases (100% of grade 1, 43% of grade 2, 40% of grade 3), whereas all secondary cases were bcl-2 positive (P=0.0002). The t(14;18) translocation was identified by interphase fluorescence in situ hybridization (FISH) in biopsies from 31% (4 of 13) of the patients with primary FL compared with 77% (10 of 13) of those with secondary lymphoma (P <0.05). Seven of the 17 (41%) patients with primary disease had cutaneous relapse, including 1 who also developed nodal disease. Bcl-2 positivity was seen in 4 of these 7 patients. Eight of the 16 (50%) patients with secondary FL had cutaneous relapse. Primary and secondary cutaneous FL share many clinical and phenotypic features, but primary cases may have some distinctive morphologic features, more frequently lack bcl-2 protein, and often lack the t(14;18) translocation. These findings suggest that primary cutaneous FL are distinctive and often but not always have a pathogenesis different from most of nodal and secondary cutaneous FL.

Adult↗
PubMed1985

[Clinico-morphological characteristics and working classification of kidney diseases in patients with systemic scleroderma].

Based on a study of 110 patients with systemic scleroderma (SSD) (74 had involved and 36 uninvolved kidneys) the authors provide the clinico-functional and morphological characteristics of renal lesions and the working classification of sclerodermic nephropathy (SN). The two basic variants of SN were recognized: acute and chronic. The latter one was subdivided into clinical, moderate and pronounced SN. A correlation was revealed between the functional (glomerular filtration lowering) and ultrastructural (reticulation of endotheliocytes and thickening of the basal membrane of the glomerular capillaries) signs evidencing derangement of the microcirculatory bed. Morphological examination of the kidneys disclosed alterations that mirror the complex pathogenesis of SSD: derangement of the microcirculatory bed, immunopathological disorders, activation of connective tissue components.

Adolescent↗
PubMed2004

A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.

Non-syndromic syndactylies have been classified into five major types (I-V), all showing autosomal dominant mode of inheritance. Later, the classification was extended and three additional variants (VI-VIII) were defined. Type VII, the Cenani-Lenz syndactyly, is the only non-syndromic, autosomal recessive type. It is characterized by fusion of all phalanges with metacarpal synostosis, dislocated and dysplastic carpals and infrequently, radio-ulnar fusion. Here, we present a Pakistani family with a novel non-syndromic autosomal recessive syndactyly manifesting a unique combination of clinical features. In both hands, reduction of certain phalanges is evident. Radiological examination shows synostosis of third and fourth metacarpals bearing single phalanges. The first three toes are webbed, with hypoplastic terminal phalanx in all the toes. Besides Cenani-Lenz syndactyly, the phenotype segregating in our family is the second well-documented autosomal recessive, non-syndromic syndactyly. A phenotype similar to our family was described in a Turkish kindred but was considered to be a homozygous expression of type I syndactyly. Since the clinical features in our family had minimal overlap with syndactyly types I, II, and III, we have performed microsatellite marker screening to look for the cosegregation of this phenotype with any of the known loci for these respective types. We show that the phenotype in our family is not linked to chromosomal regions 2q34-q36, 2q31, and 6q22-q23 encompassing loci for syndactyly types I, II, and III.

Adult↗
PubMed1988

Reconsideration of the classification of the neuronal ceroid-lipofuscinoses.

Neuronal ceroid-lipofuscinoses (NCL) represent diseases of different types. Each variety of NCL may have its own clinical course, genetics, pathogenesis, and treatment. Four disorders are presently accepted as examples of NCL. These include the chronic juvenile or Batten type, the acute late infantile or Bielschowsky type, the chronic or subacute adult Kufs type, and the acute infantile or Santavuori-Haltia type. Seventy patients with clinical and pathological features of NCL have been studied over 20 years; 62 of these fit into one of the above categories, but 8 are atypical and present nosologic problems. Recognized as examples of atypical NCL are 1) chronic congenital or Norman-Wood type, 2) acute adult or Zeman-Dyken type, 3) acute childhood or Bielschowsky variant, 4) chronic childhood (Edathodu-Dyken) type, with pervasiveness, 5) chronic infantile (Dyken) type with autism, and 6) chronic juvenile (Dyken) type with ataxia. It is proposed that our present classification of NCL be based on differentiating clinical dynamics and characteristics, age-of-onset, and morphological and pathological criteria. Although genetic characteristics are now recognized, these are of autosomal recessive or autosomal dominant type. No differentiating biochemical differences have been established to aid in the nosology of these diseases.

Adult↗
PubMed1993

The absence of correlations between a clinical classification and ultrastructural findings in amelogenesis imperfecta.

This study was performed to examine whether a clinical classification of different phenotypes of amelogenesis imperfecta could be discernible at the ultrastructural level. Seventeen primary teeth from 16 children with hypomineralization, hypomaturation, or hypoplastic variants of the disease were collected for histologic studies of the enamel by means of polarized light microscopy, scanning electron microscopy (SEM), and secondary ion mass spectrometry (SIMS). Polarization microscopy showed that the enamel was hypomineralized; in six teeth a wavy configuration of the enamel prisms also appeared. Three histomorphologic main types could be discerned. In 10 of the teeth extensive hypomineralization of the bulk of the enamel was found. One tooth had an unusually thick enamel with only a thin normally mineralized surface layer. SIMS images showed less pronounced signals from Ca2+ and Na+ but with stronger signals from Cl- and CN-, representing the organic component of enamel. The SEM images showed an irregular prism pattern with marked interprismatic areas. Irrespective of the clinical appearance or the hereditary pattern the main findings were hypomineralized enamel with or without wavy bands. Neither of the analytical methods used in this paper distinguishes between the clinical phenotypes of amelogenesis imperfecta.

Amelogenesis Imperfecta↗
PubMed1985

Neuroendocrine neoplasms of the bronchopulmonary tract. A classification of the spectrum of carcinoid to small cell carcinoma and intervening variants.

Eighty-one primary pulmonary neuroendocrine neoplasms were assessed by the classification of Gould and associates. The neuroendocrine features of these tumors were studied by a combination of conventional light microscopy, electron microscopy, and immunohistochemical staining for hormonal substances and neuron-specific enolase. In each case, clinical follow-up was obtained to test the prognostic value of this new pathological classification. This study indicated that bronchial carcinoids are very low-grade neuroendocrine neoplasms that are locally invasive and only occasionally metastasize late in their course. Well-differentiated neuroendocrine carcinomas are relatively low-grade carcinomas that either present with or subsequently develop nodal or distant metastases in 73% of patients. Intermediate cell neuroendocrine carcinomas are highly aggressive tumors often mistakenly called "large cell undifferentiated carcinoma." Their clinical course is comparable to that of small cell neuroendocrine carcinomas, which has a mean survival of 9 months. The different clinical courses of these tumors demonstrate the predictive value of the proposed classification. It appears particularly valuable to identify well-differentiated neuroendocrine carcinoma as a low-grade carcinoma, distinct from true bronchial carcinoids. This classification may resolve some discrepancies regarding the therapy for and prognosis of "carcinoids" and their presumed variants.

Biopsy↗
PubMed2005

Delusional versus nondelusional body dysmorphic disorder: clinical features and course of illness.

DSM-IV's classification of body dysmorphic disorder (BDD) is controversial. Whereas BDD is classified as a somatoform disorder, its delusional variant is classified as a psychotic disorder. However, the relationship between these BDD variants has received little investigation. In this study, we compared BDD's delusional and nondelusional variants in 191 subjects using reliable and valid measures that assessed a variety of domains. Subjects with delusional BDD were similar to those with nondelusional BDD in terms of most variables, including most demographic features, BDD characteristics, most measures of functional impairment and quality of life, comorbidity, and family history. Delusional and nondelusional subjects also had a similar probability of remitting from BDD over 1 year of prospective follow-up. However, delusional subjects had significantly lower educational attainment, were more likely to have attempted suicide, had poorer social functioning on several measures, were more likely to have drug abuse or dependence, were less likely to currently be receiving mental health treatment, and had more severe BDD symptoms. However, when controlling for BDD symptom severity, the two groups differed only in terms of educational attainment. These findings indicate that BDD's delusional and nondelusional forms have many more similarities than differences, although on several measures delusional subjects evidenced greater morbidity, which appeared accounted for by their more severe BDD symptoms. Thus, these findings offer some support for the hypothesis that these two BDD variants may constitute the same disorder. Additional studies are needed to examine this issue, which may have relevance for other disorders with both delusional and nondelusional variants in DSM.

Adolescent↗
PubMedDate not supplied

Idiopathic anaphylaxis: diagnostic variants and the problem of nonorganic disease.

We report on an expanding series of cases of idiopathic anaphylaxis (IA) with development of a classification, therapeutic regimens, and control of disease and induction of remission. Simultaneously, a growing series of cases referred for diagnosis and management of IA do not have IA. These cases, which approximate 10% of our series of IA cases, present serious time-consuming diagnostic problems for physicians. We present a series of nine cases of this type of nonorganic disease and describe the presenting symptoms, failure to document clinical abnormalities, and the lack of a response to a regimen shown to be effective in altering the course of true IA. The classification of IA has been expanded to include IA variants for patients in whom the symptoms complex varies significantly from other types of IA. Diagnostic suggestions and the problems of management are reviewed.

Adult↗
PubMed2005

Preliminary report on the International Conference for the Development of Standards for the Treatment of Anorectal Malformations.

BACKGROUND: Anorectal malformations (ARM) are common congenital anomalies seen throughout the world. Comparison of outcome data has been hindered because of confusion related to classification and assessment systems. METHODS: The goals of the Krinkenbeck Conference on ARM was to develop standards for an International Classification of ARM based on a modification of fistula type and adding rare and regional variants, and design a system for comparable follow up studies. RESULTS: Lesions were classified into major clinical groups based on the fistula location (perineal, recto-urethral, recto-vesical, vestibular), cloacal lesions, those with no fistula and anal stenosis. Rare and regional variants included pouch colon, rectal atresia or stenosis, rectovaginal fistula, H-fistula and others. Groups would be analyzed according to the type of procedure performed stratified for confounding associated conditions such as sacral anomalies and tethered cord. A standard method for postoperative assessment of continence was determined. CONCLUSIONS: A new International diagnostic classification system, operative groupings and a method of postoperative assessment of continence was developed by consensus of a large contingent of participants experienced in the management of patients with ARM. These methods should allow for a common standardization of diagnosis and comparing postoperative results.

Anal Canal↗
PubMed1993

[Question of differential diagnosis in a case of chronic B-cell lymphopathy].

We have reported the case of a woman aged 76 years suffering from pancytopenia, splenomegaly, relative lymphocytosis, lymphocytes with villous projection in the peripheral blood. On the basis of membrane phenotype, cytochemistry, ultrastructural examination of blood and marrow lymphocytes, differential diagnosis was between chronic lymphatic leukemia (CLL), CLL of mixed cell type, hairy cell leukemia (HCL), HCL variant, splenic lymphoma with circulating villous lymphocytes (SLVL), Non-Hodgkin lymphoma of mantle zone (NHL). The application of morphologic and immunological methods has reinforced the value of cytomorphology and has proved advantageous in increasing our understanding of the heterogeneity of B CLL itself. A new classification of chronic B leukemias has been proposed on the basis of clinical, cytomorphological, histological, cytochemical, immunological criteria: CLL; CLL of mixed cell type including cases with more than 10% and less than 55% prolymphocytes (CLL/P) and a less well defined form with pleomorphic lymphocytes (CLL/P) and a less well defined form with pleomorphic lymphocytes but less than 10% prolymphocytes; prolymphocytic leukemia (PLL); hairy cell leukemia (HCL); HCL variant; splenic lymphoma with circulating villous lymphocytes (SLVL); leukemic phase of NHL (follicular lymphoma, intermediate or mantle zone lymphoma, and others); lymphoplasmacytic lymphoma; plasma cell leukemia. Even if the application of cytomorphological and immunological criteria has increased our knowledge of the heterogeneity of chronic B leukemias, in some cases, as in the one reported, exact classification may be very difficult. However, on the basis of clinical and laboratory criteria this case can be classified as SLVL, notwithstanding some discrepancies of the immunophenotype.

Aged↗
PubMed1991

Congenital myopathies.

About forty different congenital myopathies (CM) are defined by clinical and morphological criteria. Classical types like central core disease, centronuclear myopathy, and nemaline/rod myopathy are now well established and recognized as neuromuscular conditions. Clinical subtypes as infantile, juvenile, and adult forms have been recognized in several CM. Not infrequently, different disease-specific morphological features may occur in muscle tissue of the same patient combined. Other CM are marked by aggregates of desmin filaments indicating the importance of recent immunohistochemical techniques. Modern myopathological techniques enabled nosological separation of CM, immunohistochemistry, actually, may usher in a new period of research in and understanding of CM. However, application of molecular genetic and molecular biological methods to CM may clarify still unsolved aspects of gene localisation for which the hereditary nature of many CM is particularly conducive, aspects of heterogeneity versus homogeneity of certain CM or clinical variants, of prenatal diagnosis of CM, of pathogenetic and nosological significance of muscle fiber proteins in CM, and of a new nosological classification of CM.

Child↗