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Biomedical subjects

A Lerner

Publications and source records attributed to A Lerner.

At least 145 records · Page 8Linked to original sources
PubMed1981

Glycogenosis due to liver and muscle phosphorylase kinase deficiency.

A four-year-old Israeli Arab boy was found to have glycogen accumulation in both liver and muscle without clinical symptoms. Liver phosphorylase kinase (PK) activity was 20% of normal, resulting in undetectable activity of phosphorylase a. Muscle PK activity was about 25% of normal, resulting in a marked decrease of phosphorylase a activity. Two sisters showed a similar pattern, whereas one brother had normal PK activity. The patient's liver protein kinase activity was normal Addition of exogenous protein kinase did not affect PK activity, whereas exogenous PK restored phosphorylase activity to normal. These findings indicate that these patients are affected by a rare variant of PK deficiency, which involves both muscle and liver and which apparently is not sex linked. It is possible that this defect represents an unusual mutation of a subunit of the phosphorylase kinase enzyme.

Child↗
PubMed1981

Genetic and hormonal characterization of cryptic 21-hydroxylase deficiency.

Cryptic 21-hydroxylase deficiency has been previously described in asymptomatic family members of patients with classical congenital adrenal hyperplasia (CAH). These family members were detected by high baseline 17-hydroxyprogesterone levels found in the course of family studies. The hormonal responses to ACTH of the family members with cryptic 21-hydroxylase deficiency were determined and compared to the responses of patients with CAH, patients with acquired adrenal hyperplasia, family members predicted to be heterozygous for CAH, family members predicted to be unaffected, and the general population. The ACTH-stimulated levels of 17-hydroxyprogesterone and delta 4-androstenedione in the cryptic family members were elevated above the level of the general population or family members heterozygous for classical CAH, but below that of patients with CAH. The hormonal profile of patients with cryptic 21-hydroxylase deficiency is similar to that of patients with acquired adrenal hyperplasia. The response of family members heterozygous for the cryptic gene (21-OH CRYPTIC/21-OH NORMAL) was indistinguishable from that of family members heterozygous for the classical CAH gene (21-OH CAH/21-OH NORMAL). These studies support our previous proposal that patients with cryptic 21-hydroxylase deficiency are genetic compounds, having one gene for a severe enzyme deficiency and one gene for a mild 21-hydroxylase deficiency. Thus, the 21-hydroxylase genotype in cryptic 21-hydroxylase deficiency is 21-OH CAH/21-OH CRYPTIC.

Adolescent↗
PubMed1980

Cryptic 21-hydroxylase deficiency in families of patients with classical congenital adrenal hyperplasia.

Serum androgens and 17-hydroxyprogesterone concentrations and HLA genotypes were determined in 124 families of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH). In 8 pedigrees, we discovered 16 pubertal or postpubertal family members of either sex who had biochemical evidence of 21-hydroxylase deficiency but were without clinical symptoms of excess virilism, amenorrhea, or infertility. We designated these family members as individuals with cryptic 21-hydroxylase deficiency. Within each generation, the family members with cryptic 21-hydroxylase deficiency were HLA identical. It is proposed that these family members are genetic compounds, having 21-hydroxylase deficiency as a result of two recessive gene defects: 1) a severe 21-hydroxylase gene defect present in the index case with classical CAH (21-OHCAH) and 2) a mild 21-hydroxylase gene defect (21-OHCRYPTIC). Thus, the CAH genotype in the family members with cryptic 21-hydroxylase deficiency is 21-OHCAH/21-OHCRYPTIC. Lod score analysis for linkage between the cryptogenic 21-OH trait and HLA gave a combined Lod score for males and females of theta = 0.00 of 3.409. Close genetic linkage between HLA and 21-OHCRYPTIC was thus established. This study provides support for the previously reported heterogeneity of 21-hydroxylase deficiency which may result from allelic variability at the locus for steroid 21-hydroxylase.

17-alpha-Hydroxypregnenolone↗
PubMed1975

Gastrointestinal bleeding: treatment with intra-arterial vasopressin.

Seventeen patients with upper and lower gastrointestinal hemorrhage were treated with selective intra-arterial continuous vasopressin infusion. 62.5 per cent of variceal and 60 per cent of nonvariceal episodes of hemorrhages were permanently controlled by vasopressin. The initial total success rate was 76.5 per cent. No major complications occurred. Early success with this technique has encouraged its continued use under a controlled setting for indications for its use to be evaluated.

Adult↗
PubMed1973

Poetry therapy.

Explore the source record for details and available documents.

Abreaction↗
PubMedDate not supplied

Increased serum antibody levels against cow's milk proteins in children with chronic liver disease.

We measured IgG, IgM and IgA antibodies to cow's milk proteins: alpha-casein, alpha-lactalbumin, bovine serum albumin, beta-lactoglobulin-a and beta-lactoglobulin-b in the sera of 29 pediatric patients with liver disease. IgG antibodies to bovine serum albumin, beta-lactoglobulin-a and beta-lactoglobulin-b and IgA antibodies to alpha-casein were elevated in most of the patients compared to age-matched controls. We postulate that, in patients with liver disease either increased intestinal uptake resulting in increased humoral response, or decreased hepatic clearance of food antigens intensifying a humoral response to these foreign antigens, may occur.

Adolescent↗
PubMedDate not supplied

Comparative studies of different gliadin preparations in detecting antigliadin antibodies.

Antigliadin antibodies (AGA) have been used as indicators of celiac disease. The presence of these antibodies in other gastrointestinal and liver disorders and even in normal healthy controls casts a shadow on the diagnostic significance of AGA. We examined 91 normal controls of varying ages and 97 patients with various gastrointestinal and liver disorders. Forty-eight of 97 nonceliac patients were positive for AGA, and diagnosis-specific incidences ranged as high as 75% in patients with small bowel disease. In addition, the levels of AGA were dependent upon age as their presence increased from 12% in children with a mean age of 10, to 35-40% in normals within the 60-70 age group. The lack of celiac disease specificity of AGA was not due to either the source of gliadin nor to the sensitivities of the test methods. Both the enzyme-linked immunosorbent assay (ELISA) and the immunofluorescence methods gave comparable results. ELISA was more sensitive than immunofluorescence. These results thus strongly suggest that AGA are not markers of celiac disease and increase with age in normals.

Adult↗
PubMedDate not supplied

Intestinal mucosa in nephropathic cystinosis.

The major manifestations of nephropathic cystinosis are renal tubular acidosis, vitamin D-resistant rickets, and dwarfism. Cystine crystals are deposited in a variety of cells, mainly phagocytic, including macrophages of the intestinal lamina propria. Previously, ultrastructural changes were suggested to occur in the absorptive epithelium as well, possibly as a result of local cystine toxicity. We report here on the light- and electron-microscopic findings in the jejunal mucosa of two patients, aged 4 and 9 years with nephropathic cystinosis. Cystine crystals were easily identified in semithin sections of plastic-embedded specimens as brick- and hexagon-shaped spaces in macrophages. Electron microscopy showed that all crystals were in single-membrane-limited bodies (lysosomes), within phagocytic cells, and exclusively located in the lamina propria. In contrast to previous findings, the absorptive epithelium showed no abnormalities. We conclude that the growth failure in cystinosis is not a consequence of morphological toxic alterations in the intestinal epithelium, but is related to the known metabolic abnormalities of this condition. The use of rectal suction biopsy as a means of diagnosing cystinosis is also suggested as an alternative to other diagnostic methods.

Biopsy↗
PubMedDate not supplied

Relationship of endomysial antibodies to jejunal mucosal pathology: specificity towards both symptomatic and asymptomatic celiacs.

Serum immunoglobulin A class antibodies reactive to the endomysial lining of the smooth muscle bundles of the gastrointestinal tract have recently been reported to be specific and sensitive indicators of celiac disease (CD). A total of 203 subjects were examined for serum endomysial antibodies (EmA) and in 103 small bowel biopsies were obtained. EmA were detected in 43 cases including 26 CD patients evaluated during the gluten challenge phase of diagnosis by European Society for Pediatric Gastroenterology and Nutrition criteria, 11 of 53 symptomatic patients, and 6 asymptomatic family members. All patients with detectable antibody at the time of biopsy exhibited grade III-IV villous atrophy. Disaccharidase activities performed in 19 cases revealed severe deficiencies. EmA were not detected in 160 subjects including 42 infants and children with chronic nonspecific diarrhea. Eighteen of these possessed grade II-III villous atrophy with moderate disaccharidase deficiency and 24 were found to have normal histology and enzymes. The EmA were also not detected in 3 CD patients who were well maintained on a gluten-free diet for greater than 1 year and 25 asymptomatic family members exhibiting normal histology and enzymes. An additional 90 infants and children with other gastrointestinal and liver diseases were also negative for the serum EmA. Fourteen of these patients underwent biopsies and were demonstrated to have normal histology.

Adolescent↗
PubMedDate not supplied

Functional imaging, the frontal lobes, and dementia.

A 58-year-old man developed progressive difficulty with comprehension and verbal output with dementia. Positron emission tomography with 18F 2-fluoro-2-deoxy-D-glucose demonstrated asymmetrical frontal and anterior temporal lobe loss of glucose use. Scopolamine infusion (0.3 mg) did not influence memory. Postmortem studies revealed evidence of Pick's disease, with Pick bodies, loss of somatostatin, preservation of choline acetyltransferase and immunostaining with neurofilament antibodies. Pharmacological challenge and positron imaging offer valuable means for the noninvasive assessment of dementing illness. The contributions of functional imaging to our knowledge of frontal involvement in dementing illness are reviewed.

Brain Chemistry↗