PubMed Health⌕ Search

Biomedical subjects

L Humphries

Publications and source records attributed to L Humphries.

11 recordsLinked to original sources
PubMed1998

A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.

Gaucher disease, the most prevalent inherited sphingolipidosis, is characterized by lipid laden histiocytes in the spleen, liver and bone marrow sinusoids of affected individuals. It results from deleterious mutations in the functional gene of glucocerebrosidase (acid beta-glucosidase, EC. 3.2.1.45) and is transmitted as an autosomal recessive trait. Three clinical forms of Gaucher disease have been described: Type 1 non-neuronopathic, type 2 acute neuronopathic, and type 3 subacute neuronopathic. In this report, we describe the identification and characterization of three novel mutations from two patients who died with type 2 Gaucher disease. Two heterozygous missense point mutations, one at cDNA nucleotide 238A (E41L) and the other at cDNA nucleotide 508T (R131C) were identified, both in the context of a cDNA nucleotide 1448C (L444P) mutation in the second allele. One of these L444P mutations was identified as a novel complex allele resulting from a crossover involving the glucocerebrosidase functional gene and pseudogene beginning between genomic nucleotides 5689 and 5723 and extending through the rest of the coding sequence. Based on the recent identification and sequence analysis of the metaxin gene and pseudogene contiguous with the glucocerebrosidase pseudogene and functional gene respectively, we have developed a PCR-based method for the analysis of the origin and extent of this recombination.

Adult↗
PubMed1992

Zinc status before and after zinc supplementation of eating disorder patients.

Reduced food consumption is a major manifestation of zinc (Zn) deficiency. Many manifestations of Zn deficiency are complications of anorexia nervosa and bulimia nervosa. We evaluated serum and 24-hour urinary Zn values in 12 healthy volunteers and 33 eating disorder patients before and after hospitalization which included either Zn supplementation (75 mg Zn/day) or placebo. Bulimics had depressed serum Zn concentrations (p < 0.025). Admission urinary Zn was lower in bulimics (258 +/- 44 micrograms/day), and significantly depressed in anorexics (196 +/- 36 micrograms/day, p < 0.005) vs controls (376 +/- 45 micrograms/day). During hospitalization, serum Zn concentrations increased in all supplemented patients vs no change with placebo. Urinary Zn excretion increased in supplemented bulimics (p < 0.001) and placebo (p < 0.05). Urinary Zn excretion markedly increased in supplemented anorexics (179 +/- 65 to 1052 +/- 242 micrograms/day); however, placebo values fell or remained unacceptably low (admission 208 +/- 48 micrograms/day; discharge 160 +/- 17 micrograms/day). By dietary history, controls consumed the Recommended Dietary Allowance (RDA) for Zn (11.95 +/- 1.25 mg/day); anorexics 6.46 +/- 1.14 mg/day; and bulimics 8.93 +/- 1.29 mg/day. We suggest that Zn deficiency may act as a "sustaining" factor for abnormal eating behavior in certain eating disorder patients.

Adolescent↗
PubMed1989

Zinc deficiency and eating disorders.

Decreased food intake, a cyclic pattern of eating, and weight loss are major manifestations of zinc deficiency. In this study, zinc status was evaluated in 62 patients with bulimia and 24 patients with anorexia nervosa. Forty percent of patients with bulimia and 54% of those with anorexia nervosa had biochemical evidence of zinc deficiency. The authors suggest that for a variety of reasons, such as lower dietary intake of zinc, impaired zinc absorption, vomiting, diarrhea, and binging on low-zinc foods, patients with eating disorders may develop zinc deficiency. This acquired zinc deficiency could then add to the chronicity of altered eating behavior in those patients.

Adolescent↗
PubMed1988

Serum lysosomal hydrolases in cystic fibrosis.

The activities of a number of lysosomal hydrolases were determined in sera from 100 patients with cystic fibrosis (CF), age 2-35 yr, and age-matched controls: beta-hexosaminidase activity was significantly elevated (p less than 0.005) in CF patients from all age groups. alpha-Mannosidase activity was increased only in the older CF patients (greater than 13 yr). The following enzyme activities were not altered in CF serum: alpha-fucosidase, beta-glucuronidase and acid phosphatase. The abnormal patterns of serum alpha-mannosidase and beta-hexosaminidase in CF cannot be explained by pancreatic disease or undernutrition, since serum values of these hydrolases in patients with anorexia nervosa or acute pancreatitis were not altered. However, the altered activities of the alpha-mannosidase and beta-hexosaminidase were proportional to the degree of pulmonary insufficiency in the CF group, indicating that these changes are probably a secondary consequence of the primary disease process. Except for beta-hexosaminidase, because differences in the serum hydrolases in CF do not become apparent until the second decade of life, determinations of lysosomal enzyme activities in serum will probably be of little diagnostic value.

Adolescent↗
PubMed1987

Tc-99m labeled triethelene tetraamine polysterene resin gastric emptying studies in bulimia patients.

To evaluate gastric emptying in patients with bulimia, 20 patients (all women, ranging in age from 12 to 49 years) with upper gastrointestinal symptoms ingested 150-200 microCi 99mTc-triethelene tetraamine polysterene resin in cereal and had scintigraphy in the supine position. Data were accumulated at 5 min intervals to determine the gastric emptying time (GET). The results showed that the gastric emptying time was prolonged in 12 patients and decreased in 8. All 12 patients with prolonged emptying time were given 10 mg metoclopramide intravenously; 9 of these had a good response and 3 had no response. Although all patients had subjective symptoms of gastric dysfunction, the results indicate that about 60% had delayed and 40% had rapid gastric emptying. The findings of two extremes of gastric emptying time remain to be explained, however, this enables (a) objective documentation of gastric emptying as this technique (b) can separate those patients with rapid GET from those with prolonged GET, who might benefit from metoclopramide.

Adolescent↗
PubMed1987

Radionuclide gastric emptying studies in patients with anorexia nervosa.

To evaluate gastric emptying in anorexia nervosa patients, 26 patients (17 females, two males, ranging in age from 13 to 40 yr) with upper GI symptoms ingested 150-200 microCi [99mTc]triethelenetetraamine polysterene resin in cereal and were imaged in the supine position. Data were accumulated at 5 min intervals to obtain the gastric emptying time (GET). The results of the studies were divided into three categories: prolonged, 13 patients; rapid, 11; and normal 3. Twelve of 13 patients with prolonged GET were given 10 mg metoclopramide i.v. injections; nine of the 12 patients had a good response and three had no response. Five of the nine patients underwent metoclopramide therapy and four of the patients showed benefit from the therapy. One patient discontinued metoclopramide therapy because of somnolence. Although all patients had subjective symptoms of gastric dysfunction, our results indicated only 50% had objectively prolonged GET, and another 50% showed normal or even rapid GET. Therefore, this radionuclide study enables quantitatively objective documentation of gastric emptying, separation of those patients with rapid or normal GET from those with prolonged GET, thereby avoiding the possible side effects from metoclopramide medication, and prediction of effectiveness of metoclopramide therapy in patients with prolonged GET.

Adolescent↗
PubMed1985

Motor proficiency in depressed adolescent inpatients: biochemical and clinical diagnostic correlates.

A pilot investigation was conducted on 25 adolescents, ages 11 to 18 years, admitted to a six-bed psychiatric unit in a university hospital in order to explore relationships among motor proficiency and categories of depressive illness. The investigators endeavored to determine whether (a) depressed adolescents would perform as well as normals on the Bruininks-Oseretsky Test of Motor Proficiency and (b) whether the method of diagnosing major depressive episode (MDE), using DSM-III criteria or the Dexamethasone Suppression Test, was related to motor proficiency. Results indicate that depressed adolescents performed less well on balance, bilateral coordination, upper limb coordination, and response speed than normals. Major depressive episode (MDE) patients, as defined by the Dexamethasone Suppression Test, performed less well than patients with Adjustment Disorder with Depressive Mood. Patients diagnosed as MDE on the basis of DSM-III criteria had motor proficiency scores similar to those of the other patients with depressive mood adjustment disorders. The method of diagnosis is critical if prescribed physical activity therapy is to be effective.

Adolescent↗