Human T-cell leukemia virus type III (HTLV-III) was recently identified as the probable etiologic agent of the acquired immune deficiency syndrome (AIDS). Here it is shown that, in human T-cell lines infected with HTLV-III, gene expression directed by the long terminal repeat sequence of this virus is stimulated by more than two orders of magnitude compared to matched uninfected cells. The rate of transcription of the HTLV-III long terminal repeat is more than 1000 times that of the SV40 early promoter in one infected cell line. Thus, HTLV-III, like HTLV-I, HTLV-II, and the bovine leukemia virus, is characterized by trans-activation of transcription in infected cells. The efficiency of trans-activation in the case of HTLV-III may account, at least in part, for the virulent nature of HTLV-III infection.

Acetyltransferases↗

PubMed1985

Narrow trachea in mucopolysaccharidoses.

Nine of 56 patients with mucopolysaccharidoses (MPS) showed small tracheal diameters on their frontal chest radiographs. Autopsy of an MPS I-H (Hurler disease) patient demonstrated that the small calibre was secondary to deposition of glycosaminoglycan (mucopolysaccharide). Autopsies of two patients with other storage diseases, one with geleophysic dysplasia and one with mucolipidosis II, also exhibited compromise of their airways because of storage material accumulation.

Adolescent↗

PubMed1985

Reactive hemophagocytic syndrome.

Two cases of reactive hemophagocytic syndrome (RHS) are reported, and the clinical and pathological features are compared with other histiocytic proliferative disorders, including familial hemophagocytic lymphohistiocytosis (FHL) and malignant histiocytosis. RHS can be associated with a variety of infections, including viral, bacterial, fungal, and parasitic. RHS may also be familial as exemplified by our 2 cases in siblings. The isolation of an effective agent appears to be the only criterion by which a diagnosis of RHS can be made.

Acquired Immunodeficiency Syndrome↗

PubMed1985

Budd-Chiari syndrome presenting as sudden infant death.

Budd-Chiari syndrome rarely occurs in infants. We report a case of a 1-month-old female infant who presented as a sudden infant death and was found at autopsy to have thrombi occluding both hepatic veins. Microscopically the liver showed perivenular fibrosis extending into the lobule and central venous congestion consistent with Budd-Chiari syndrome.

Budd-Chiari Syndrome↗

PubMed1984

Geleophysic dysplasia.

On the basis of three affected sibs and one isolated case from the literature geleophysic dysplasia is defined as an acrofacial dysplasia with a peculiar, good-natured facial appearance, short hands and feet due to short, plump tubular bones, small stature, and progressive valvular cardiac disease. It seems to be a hereditary disorder of glycoprotein metabolism with autosomal recessive transmission.

Abnormalities, Multiple↗

PubMed1984

Adverse histopathologic effects of chemotherapeutic agents in childhood leukemia and lymphoma.

Pathologic material from 84 children with leukemia or lymphoma who died and were autopsied at the University of Wisconsin Hospital between 1967 and 1980 was reviewed to assess the adverse tissue changes due to the chemotherapy administered. In each case the histopathologic findings were correlated with the chemotherapy given. Individual drug dosage is administered (per m2) correlated with the adverse tissue findings at autopsy. Data presented suggest that the drug dose administered should be correlated not only with tumor response but also with tissue effects (some of which produce no noticeable, immediate, clinically apparent changes) to decrease the likelihood of producing irreversible tissue changes.

Adolescent↗

PubMed1983

Familial agnathia-holoprosencephaly.

Two stillborn sisters had characteristics of both agnathia and holoprosencephaly. Familial occurrence implies that agnathia-holoprosencephaly may be determined by a single recessive gene, something to be taken into account when counseling such families. Evidence from human experience and various animal models suggests that agnathia-holoprosencephaly represents a causally heterogeneous single developmental field defect. Anatomical studies of these two stillborn sisters support the view that they shared a developmental field defect which affected structures in the face, cranial cavity, and upper neck. The pathogenesis of these variably expressed defects probably relates to defects in neural crest cells of cranial origin and/or to underlying mesodermal support elements of these cells.

Abnormalities, Multiple↗

PubMed1983

A three-month-old infant with seizures, hypoglycemia, and apnea.

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Apnea↗

PubMed1983

Leigh's necrotizing encephalopathy with pyruvate carboxylase deficiency.

Infants with subacute necrotizing encephalopathy or Leigh's encephalopathy usually are first examined before the age of 2 years with degenerative neurologic disease with variable clinical appearance. Necrotizing lesions of the CNS occur with special predilection of the gray matter. Biochemical defects of thiamine triphosphate associated with an inhibitor of the enzyme thiamine pyrophosphate-adenosine triphosphate phosphoryltransferase and deficiency of the enzyme pyruvate carboxylase have been found. Progressive neurologic deterioration and death occurred in an infant with pyruvate carboxylase deficiency. Pathologic studies showed extensive necrotizing areas of the gray matter, mamillary bodies, and midbrain and basal ganglia. Biochemical studies on the liver confirmed a deficiency of pyruvate carboxylase.

Brain↗

PubMed1983

Menkes' syndrome with vascular and adrenergic nerve abnormalities.

Using the formaldehyde-induced fluorescence method, we found a peculiar rosary-type swelling of the adrenergic axons in the peripheral nerves, deficiency of the perivascular adrenergic plexuses in the visceral and cerebral arteries, and reduction of noradrenergic fluorescence in the tegmental and hypothalamic regions of a 3-year-old boy who had typical Menkes' syndrome (kinky hair syndrome). The nigrostriated neurons retained moderate intensity of fluorescence compared with those in postmortem (control) brains. Histologically, marked dilatation of the visceral, meningeal and cerebral arteries were noted. Copper deficiency, the cause of this disease, induces failure of central and peripheral noradrenergic neurons and leads to abnormal vasodilatation.

Axons↗

PubMed1982

Cyanotic congenital heart disease with malignant paraganglioma.

A malignant paraganglioma of the subclavian (supra-aortic) area and organ of Zuckerkandl with metastases to the liver and pancreas was discovered at autopsy in a 22-year-old man with known transposition of the great arteries. Light microscopy showed the typical "Zellballen" pattern and Grimelius stain showed intracytoplasmic argyrophilic granules, which appeared ultrastructurally as electron dense granules. Review of the literature disclosed 59 previously reported cases of hypoxia associated with endocrine tumors. The case presented is believed to be the first example of a subclavian paraganglioma associated with hypoxemia. One previous case of a paraganglioma arising in the organ of Zuckerkandl that occurred in a hypoxic state has been reported. The possibility of cyanotic congenital heart disease with chronic long-standing hypoxia, predisposing to the development of paraganglioma with malignant transformation is presented.

Adult↗

PubMed1982

A cautionary note on the use of lentil lectin affinity chromatography in the presence of sodium deoxycholate.

When affinity chromatography with lentil lectin (LcH)-Sepharose was carried out in 0.5% (w/v) sodium deoxycholate (DOC), 10 mm Tris, pH 8.2, LcH consistently appeared in the 0.1 M alpha-methyl-mannoside (alpha-MeMan)-eluted fraction. Eluted LcH was recovered in both the control and specific immunoprecipitates with antisera directed against components of the glycoprotein fraction, suggesting that at least a portion of the LcH retained the capacity to interact with protein-bound carbohydrate. We suggest that the presence of functional LcH in the purified glycoprotein fraction is a potential source of artifact which may not be generally appreciated. When the non-ionic detergent. Nonidet P-40 was substituted for DOC in the same type of LcH-Sepharose fractionation, LcH did not appear in the 0.1 M alpha-MeMan-eluted fraction.

Animals↗

PubMed1982

Fractionation and identification of pig lymph node plasma membrane glycoproteins.

Plasma membrane vesicles purified from pig mesenteric lymph node tissue were solubilized in 1% (w/v) sodium deoxycholate and the fractionation of both membrane proteins and glycoproteins assessed by gel filtration on AcA 34. Milligram quantities of the glycoprotein fraction, consisting of 12 distinct bands on SDS-PAGE ranging in apparent mol. wt from 12,000 to 250,000, were purified by affinity chromatography on lentil lectin-Sepharose. Identified among these by specific immunoprecipitation were the major histocompatibility antigen, SLA (band 9), in association with beta 2-microglobulin (band 12); as well as the alpha (band 10) and beta (band 11) subunits of the Ia-like antigens. A tentative identification of the membrane-bound immunoglobulins (IgM, IgG and IgA) was also proposed on the basis of their known affinities for protein A. Thus, the domestic pig represents and inexpensive, abundant source of defined lymphocyte plasma membrane glycoproteins suitable for further structural analysis.

Animals↗

PubMed1981

Systemic carnitine deficiency presenting as familial endocardial fibroelastosis: a treatable cardiomyopathy.

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Administration, Oral↗