David Yi-Yung Hsia’s research while affiliated with Children's Memorial Hospital and other places

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Publications (171)


PHENYLKETONURIA:
  • Article

June 2008

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19 Reads

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2 Citations

Journal of Intellectual Disability Research

DAVID YI-YUNG HSIA

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RICHMOND S. PAINE

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KATHLEEN W. DRISCOLL

Use of white blood cells and cultured somatic cells in clinical genetic disorders

April 2008

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15 Reads

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1 Citation

In this review, we have summarized the data showing that about one-third of all of the known “inborn errors of metabolism” can be detected by white blood cell lysates prepared from 5 to 10 ml of blood, or by cultivated somatic cells grown from either skin biopsy or amniotic fluid obtained by amniocentesis. The ability to simplify the diagnostic procedure in this manner represents an important step forward for the practicing physician.




Polysomes of Cultured Normal and Leukaemic Lymphocytes: Response to Phytohaemagglutinin

April 1973

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9 Reads

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1 Citation

. Polysome OD260 profiles of glass column separated normal and leukaemic lymphocytes were studied. Contaminating RBC were haemolysed with NH4Cl prior to culture. Post-mitochondrial supernatants from lymphocytes ruptured by nitrogen cavitation were analysed in a scaled-down sucrose gradient procedure. Normal lymphocytes responded to phytohaemagglutinin stimulation in a few hours with increases in all classes of polysome OD260 absorbances from the low levels found in both normal and leukaemic unstimulated lymphocytes. Leukaemic lymphocytes which responded to PHA showed delays in both polysome formation and blast-cell production. With leukaemic lymphocytes the degree of responsiveness to PHA and the amount of polysome OD260 produced were inversely related to the level of the peripheral WBC counts. Incorporation of [14C]-amino acids at polysomes in both intact cells and in cell free reactions increased with PHA stimulation and blast-cell production. With both normal and leukaemic lymphocytes increased [14C]amino acid incorporation was related to increase in polysome OD260. There was no evidence that leukaemic polysomes when formed were defective.



A case of classical maple syrup urine disease “Thiamine non-responsive”

February 1972

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16 Reads

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5 Citations

Leukocytes and skin fibroblasts from a patient with classical maple syrup urine disease (M.S.U.D.) contained virtually no branched-chain keto acid decarboxylase activity. Those of his parents had approximately 50 % of normal activity, and those of his sister had normal activity. The patient was treated from the second week of life with a “synthetic diet”. At the age of 2 months, when the patient was completely free of symptoms, 20 mg of thiamine three times daily was given orally. On the second day of treatment, he was challenged with cow's milk. Within 12 hours he became irritable; within 24 hours he refused feeding and his urine had the characteristic odor of M.S.U.D. The symptoms became more marked with progressive increase of plasma branched-chain amino acids. This classical M.S.U.D., like the intermediate type, did not respond to thiamine Iherapy.


A Critical Evaluation of PKU Screening

April 1971

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7 Reads

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4 Citations

Hospital Practice

As the PKU experience has taught, screening of newborns for “inborn errors of metabolism” requires more than the development of a specific test: time is needed to establish both the value and limits of such tests. Moreover, screening of only susceptible populations may be necessary to balance testing costs against yield. Priority should be given to development of techniques of screening simultaneously for several defects.


Conference on sex ratio in phenylketonuria

February 1971

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11 Reads

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17 Citations

The Journal of Pediatrics

A conference was held to discuss the significance of the disproportionate sex ratio (2:1) observed in the Collaborative Study of Children Treated for Phenylketonuria. No definite conclusions were arrived at concerning the cause of this observation, but it was felt that the present screening programs are sound and are not missing significant numbers of children with phenylketonuria. If the observation of an altered sex ratio has not occurred by chance in the PKU Collaborative Study, this could be the result of the criteria for inclusion in the Collaborative Study or of a slight variation in how the sexes metabolize phenylalanine.


Altered sex ratio among phenylketonuric infants ascertained by screening the newborn

June 1970

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8 Reads

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28 Citations

The Lancet

Of 90 infants included in a collaborative study of phenylketonuria (P.K.U.) 60 were males and 30 were females. The method of ascertainment seems to have played a part in this altered sex ratio since the high proportion of males was found only in series ascertained by screening alone. In this series there were 7 cases (all female) in which the rise in blood-phenylalanine was delayed. Such cases would be missed in routine screening in the first forty-eight hours of life. Another explanation could be that one published series of P.K.U. (near-normal I.Q.) contained an excess of females, and such cases might escape detection. It is suggested that the Guthrie test be repeated later than forty-eight hours after birth and that plasma-phenylalanine levels be measured serially in at-risk infants.


Citations (48)


... There was an increase in perinatal deaths and spontaneous abortions among the families reviewed here, but Gaucher disease often was only recognized when a second child was affected. The observation of this fetal loss associated with Gaucher disease has been reported in the past (25). Further systematic study of the incidence of perinatal deaths among Gaucher families should prove helpful. ...

Reference:

Gaucher Disease in the Neonate: A Distinct Gaucher Phenotype Is Analogous to a Mouse Model Created by Targeted Disruption of the Glucocerebrosidase Gene
The Genetic Mechanism of Gaucher's Disease
  • Citing Article
  • December 1962

... Long before large-scale metabolomics data became available, rare genetic mutations affecting metabolism were identified and investigated. 16 Disorders caused by genetic mutations that disrupt metabolism are referred to as inborn errors of metabolism (IEM). Usually, the causal genetic mutations are located in protein coding genes and affect the structure of the encoded proteins to such an extent that their biological function is disrupted. ...

Inborn Errors of Metabolism, Part II
  • Citing Article
  • November 1966

The American Journal of the Medical Sciences

... It has been reported that the hexose monophosphate shunt activity in red cells was increased in individuals with DS 16 . Studies have shown an increase in 6phosphogluconate dehydrogenase and glucose-6-phosphate dehydrogenase activities in red cells [19][20][21] . Increased activity of glutathione reductase could be explained by increased peroxide production which is catabolized by glutathione peroxidase. ...

Enzymes in Down's syndrome
  • Citing Article
  • October 1965

The Lancet

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Paul Wong

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Tohru Inouye

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[...]

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David Yi-Yung Hsia

... Other similar surveys, of Sardinian [24,251,Chinese [5,20,381,and Turkish [27] newborns as well as of Thai and Chinese newborns of the Bangkok region [14], have shown that severe jaundice is associated with G-6-PD deficiency. Surveys of newborns in Northern Thailand [15], in Israel [29], and in American Negroes [22,37,39] have failed to demonstrate this association. ...

Serum bilirubin levels and glucose-6-phosphate dehydrogenase deficiency in newborn American Negros
  • Citing Article
  • July 1963

The Journal of Pediatrics

... Gel Filtration Chromatography on Sephadex G-75: Dialyzed ammonium sulfate fraction was applied to the column of gel filtration Sephadex G-75 (32). Absorbance was read at 280 nm and beta- glucuronidase activity assay was read at 405 nm (33,34). The liquid enzyme was concentrated to a volume of 5 mL by dialysis bag on sucrose (32,35,36). ...

β-Galactosidase activity in human intestinal lactases
  • Citing Article
  • December 1966

Biochimica et Biophysica Acta (BBA) - Enzymology and Biological Oxidation

... Received for publication 5 November 1971 and in revised form 21 December 1971. the suckling period the activity is very low (1)(2)(3)(4). In contrast, the activities of the intestinal a-glucosidases are either very low (maltase) or undetectable (sucrase and isomaltase) during the early suckling period (2,3,5). ...

The development of intestinal β-galactosidase and β-glucuronidase in the newborn
  • Citing Article
  • September 1966

Biochimica et Biophysica Acta (BBA) - Enzymology and Biological Oxidation

... Actually four alternative pathways for galactose utilization by galactosemic cells have been proposed. They involve the conversion of: (1) galactose-I-phosphate (gal-I-P) to uridine diphosphategalactose (UDP-gal) by a pyrophosphorylase (Isselbacher, 1957); (2) galactose toD-xylulose (Cuatrescasas and Segal, 1966); (3) galactose to 6-phosphogalactonate (6-P-gal) (Inouye et al., 1962); and (4) galactose to galactonolacte,ne and galactitol (Kalckar et a1., 1959;Segal et al., 1965). It has also. ...

Identification of Galactose6Phosphate in Galactosæmic Erythrocytes
  • Citing Article
  • January 1962

Nature

... Skin fibroblasts derived from normal individuals and patients with cystic fibrosis were grown in minimal essential medium supplemented with 15% fetal calf serum, penicillin, streptomycin, and fungizone as described previously (14). Serum samples obtained from 10 children with cystic fibrosis, 2 obligate heterozygotes, and 12 age-matched control subjects were dialyzed against 0.01 M sodium phosphzte-buffered saline, pH 7.0, for 16 hr and stored at -20°. ...

Enzymes in Cultivated Human Fibroblasts derived from Patients with Down's Syndrome (Mongolism)
  • Citing Article
  • March 1967

... During the same year Creasman WT 9 et al published similar findings later. The first case of prenatal diagnosis of Trisomy 21 (Down syndrome) was reported by Hsia DY-Y et al 10 . In 1970, Nadler and Gerbie 11 published the 'Role of amniocentesis in the intrauterine diagnosis of genetic defects' in the New England Journal of Medicine. ...

Biochemical changes in chromosomal abnormalities
  • Citing Article
  • December 2006