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At least 181 records · Page 10Linked to original sources
PubMed1984

Granulocytic sarcoma. A new finding in the setting of preleukemia.

Preleukemia is a well-defined syndrome of hematopoietic dysfunction that may antedate the development of acute myelogenous leukemia. Granulocytic sarcoma refers to neoplastic infiltration in the skin, composed of immature cells of the granulocyte series. We report two cases of granulocytic sarcoma in the setting of preleukemia. The clinical importance of these cases, as well as the cutaneous manifestations of leukemia and the clinical spectrum of granulocytic sarcoma, are presented.

Aged↗
PubMed1984

New findings in posterior amorphous corneal dystrophy.

Eight members of a family spanning five generations were found to have posterior amorphous corneal dystrophy. This rare abnormality was noted in both its centroperipheral and peripheral forms. The following five heretofore unrecognized features were noted: (1) hyperopia, (2) flattened corneal topography, (3) anterior iris surface and stromal abnormalities, (4) fine iris processes extending to Schwalbe's line for 360 degrees, and (5) extension of the opacity to the limbus. The presence of this dystrophy in a 6-month-old family member further suggests the possibility that it is a congenital abnormality.

Adult↗
PubMed1984

New findings in neonatal lupus syndrome.

Neonatal lupus is a syndrome characterized by cutaneous lupus and/or congenital heart block (CHB). This report reviews our original observations on patients with neonatal lupus during the past five years: (1) Sicca syndrome (SS-A) (Ro) autoantibodies were found in the serum of the mothers and infants, were of maternal origin, and constituted a marker for the syndrome. (2) SS-A autoantibodies were found in the majority of the cases of "idiopathic" CHB and may have been the most common cause of all CHBs. (3) Mothers who had one child affected were at risk for having a second child affected. (4) Mothers were often asymptomatic. (5) HLA associations in this syndrome were HLA-DR3, HLA-B8, HLA-MB2, and HLA-MT2, and these occurred in mothers but not infants. Thus, the HLA association was with autoantibody production rather than tissue injury, a finding that may help clarify genetic and environmental roles in autoantibody-mediated disease.

Adult↗
PubMed1981

Early information processing deficit in schizophrenia. New findings using schizophrenic subgroups and manic control subjects.

In recent years, the idea that schizophrenia involves a primary disturbance of the higher cognitive (ie, cortical) thinking processes has been challenged by investigators who have shown that there may be a primary disturbance in schizophrenia in the early stages of information processing that occurs during the first few hundred milliseconds after the stimulus reaches the sense organs. Among the hypothesized early information processing deficits are deficiencies in iconic storage (a brief peripheral memory store) and slowness of processing from iconic storage to a more permanent memory system. Three experiments were conducted using tachistoscopically presented stimuli in order to evaluate these two stages of information processing (iconic storage and speed of processing) in schizophrenic and control subjects. Results converged in supporting the hypothesis, that independent of iconic storage and sensory registration, slow information processing is a relatively stable deficit of schizophrenic patients with a poor prognosis. The schizophrenic patients with a good prognosis had a similar deficit, which was reversible. Results are discussed as they relate to the early information processing deficit theories of schizophrenia.

Adult↗
PubMed1984

Urinary 3-methoxy-4-hydroxyphenylglycol and major affective disorders. A replication and new findings.

We studied group and subgroup differences in urinary 3-methoxy-4-hydroxyphenylglycol (MHPG) levels in patients with major affective disorder (66 depressed, 13 manic) and normal volunteers (27 subjects). Bipolar I depressed patients excreted less MHPG than unipolar depressed patients, manic patients, or normal volunteers. The mean (+/- SEM) MHPG excretion rate was 1.44 +/- 0.10 mg/day in 19 depressed bipolar I patients, 1.79 +/- 0.11 mg/day in 28 unipolar depressed patients, 2.11 +/- 0.19 mg/day in 13 manic patients, and 1.85 +/- 0.12 mg/day in 27 normal volunteers. Other sources of variance that affected urinary MHPG levels did not explain subgroup or state differences. There was only a trend for a low pretreatment MHPG level to be associated with positive response to imipramine hydrochloride or desipramine hydrochloride in the 19 patients treated with these drugs. The application of this biological test value for prediction of differential response to antidepressant drugs would therefore seem premature.

Adult↗
PubMed1978

Aarskog syndrome. New findings and genetic analysis.

A patient had several unusual findings that, to our knowledge, have not previously been reported in the Aarskog syndrome (facio-digital-genital syndrome). On the basis of published pedigrees, the data strongly support an X-linked recessive mode of inheritance.

Abnormalities, Multiple↗
PubMed1996

New findings in the behavioral profile of young FraX females.

Nine girls, with a 50% risk to be carrier of the FMR-1 gene and who attended normal school and did not have a mentally retarded fraX relative, were selected to exclude influences of external factors. These subjects were submitted to an extensive neurocognitive and psychiatric evaluation before molecular analysis of their FMR-1 status was done to obtain completely unbiased results. The findings of this study suggest that differentiation according to the FMR-1 status may be more significant at the neurocognitive level than at the behavioral level and support the hypothesis that behavioral problems are more influenced by external factors than by the FMR-1 carrier state.

Adolescent↗
PubMed1996

Defining the unknown: molecular methods for finding new microbes.

The purpose of this article is to describe specific applications of molecular diagnostics that are currently identifying suspected or unidentified microbial pathogens. The techniques reviewed include (i) the use of specific primers and PCR to identify new microbes, (ii) PCR amplification of conserved 16S rRNA sequence with subsequent identification of specific internal sequence from the candidate bacterial pathogen, and (iii) an exciting new modification of PCR called RDA or "reverse PCR" that can identify unique infectious agents in diseased tissue. The field will continue to expand rapidly and, it is hoped, contribute to a better understanding of the microbial environment with which humans coexist. Also, molecular techniques will eventually be applied in the demonstration of pathogenesis by the various newly identified microbial pathogens.

Angiomatosis, Bacillary↗
PubMed2000

Char syndrome: an additional family with polythelia, a new finding.

This report describes a father and daughter with Char syndrome, a rare autosomal dominant disorder. Both affected individuals had typical face, strabismus, and foot anomalies. The girl also had a patent ductus arteriosus. In addition, both patients had polythelia (supernumerary nipples), a finding not described before in the Char syndrome.

Abnormalities, Multiple↗
PubMed1980

Lymphoreticular disorders in primary immunodeficiencies: new findings based on an up-to-date histologic classification of 35 cases.

A histologic review was undertaken of 35 lymphoreticular disorders that developed in primary immuno-deficiency patients from the Immunodeficiency Cancer Registry. Twenty-one (60%) of the lesions were non-Hodgkin's lymphomas: these included eight B-immunoblastic sarcomas. Eight (23%) of the lesions were Hodgkin's disease, with a high frequency of lymphocytic depletion type in an unusually young age group. Three lesions (8.5%) represented abnormal proliferative processes, which could not be definitely categorized as either benign or malignant. There were only two acute lymphoblastic leukemias (6%). Differences were found between lymphomas arising in Wiskott-Aldrich syndrome and those occurring in ataxia-telangiectasia; this suggests that different pathogenetic mechanisms might operate in their development. The lymphomas in Wiskott-Aldrich syndrome were all of non-Hodgkin's type, predominantly B-immunoblastic sarcomas, and presented as localized extranodal infiltrates. The lymphomas in ataxia-telangiectasia were either Hodgkin's disease, mostly of lymphocytic depletion type, or non-Hodgkin's lymphomas of the histologic subtypes associated with 14q translocations.

Adolescent↗
PubMed1989

Acrocallosal syndrome: new findings.

We describe a 21-month-old girl with typical manifestations of the acrocallosal syndrome of craniofacial anomalies, agenesis of the corpus callosum, hallucal duplication, severe hypotonia, and psychomotor retardation. Our patient also had the Dandy-Walker malformation, imperforate anus with rectovaginal fistula, hypothalamic dysfunction with hypothyroidism and diabetes insipidus, thick, dysplastic pulmonic valve leaflets, central and obstructive apnea, and pulmonary hypertension. These findings add to the delineation of this syndrome.

Abnormalities, Multiple↗