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Biomedical subjects

Y E Hsia

Publications and source records attributed to Y E Hsia.

At least 19 recordsLinked to original sources
PubMed1992

Glucose-6-phosphate dehydrogenase variants in Hawaii.

Sequence analysis has been performed on the DNA of 13 glucose-6-phosphate dehydrogenase (G6PD) deficient males from Hawaii, 6 of Filipino, 6 of Laotian, and 1 of Chinese extraction. Four different mutations were found: A-->T at cDNA nt 835, G-->A at nt 871, C-->T at nt 1360, and G-->A at nt 1388. The mutations at nt 835 and nt 1360 have not been described previously, and the latter, in particular, appears to be relatively common. The nt 1360 mutation changes the same codon as is altered in a previously described mutation, G6PD Andalus.

China↗
PubMed1991

Hereditary anemias in Hawaii. 1987.

The differential diagnosis of microcytic anemias in Hawaii presents special problems because of the hereditary anemias prevalent in its large Asian subpopulations. Both the alpha- and beta-thalassemias are important because of morbidity and mortality. Heterozygous carriers for either type mimic iron deficiency, which may lead to inappropriate work-up or treatment. The thalassemias and hemoglobin (Hb) variants are all benign in heterozygotes, but if a couple are both heterozygous for the same or for incompatible variants, their children have 25% risk of inheriting a serious anemia. These can be prevented by detecting the heterozygotes, and by offering genetic counseling and fetal testing to couples at risk of having severely affected children. Early detection is also possible by the screening of newborns. Fetal diagnosis, or early detection and treatment, can greatly reduce the consequences of these anemias. Screening and prevention will cost far less than the cost of care for affected patients.

Anemia↗
PubMed1990

Prenatal findings in Brachmann-de Lange syndrome.

Brachmann-de Lange syndrome is a congenital disorder of uncertain cause characterized by severe mental retardation, small stature, microbrachycephaly, hirsutism, limb deformities, and characteristic facies. Although more than 300 neonatal cases have been reported, a lack of specific fetal markers has precluded successful antepartum diagnosis. We describe a case of Brachmann-de Lange syndrome identified at 15 weeks' gestation by a low maternal serum alpha-fetoprotein (MSAFP) value. Sonography revealed a fetus with a posterior nuchal cystic hygroma and early-onset symmetrical intrauterine growth retardation (IUGR). The fetal karyotype was 46,XX, but the infant fulfilled the phenotypic criteria of the Brachmann-de Lange syndrome at delivery. The triad of an abnormally low MSAFP value, early-onset symmetrical IUGR, and characteristic ultrasound findings during the second trimester of pregnancy may define adequate criteria for prenatal diagnosis of Brachmann-de Lange syndrome.

Adult↗
PubMed1979

Human propionyl CoA carboxylase: some properties of the partially purified enzyme in fibroblasts from controls and patients with propionic acidemia.

We report some properties of propionyl CoA carboxylase (PCC) partially purified from cultured human fibroblasts obtained from controls and several patients with propionic acidemia. A series of steps (Triton X-100 treatment, high speed centrifugation, ammonium sulfate precipitation, and density gradient centrifugation) led to 100- to 300-fold purification of control enzyme. Control PCC had a molecular weight of nearly 700,000, contained biotin, demonstrated a pH optinum at 8.0-8.5, was activated by potassium, and followed Michaelis-Menten kinetics for each of its substrates. It was distinguished from acetyl CoA carboxylase immunologically as well as by differential purification. Each of seven lines from patients with propionic acidemia had clearly detectable PCC activity which was less than 5% of that in control lines. Although yields were poor and purification less extensive than in control lines, mutant PCC was enriched 2- to 40-fold by the same procedures employed for the control enzyme. Mutant enzyme had a pH optimum, ionic requirements, and substrate Km's similar to those of control PCC, but was distinctly more labile to both cold and heat. These findings suggest that the markedly reduced activity of PCC in these patients results from a mutation in the PCC structural gene locus or loci which leads to the synthesis of altered enzyme protein molecules.

Adult↗
PubMed1979

A study of inheritance in progressive intrahepatic cholestasis: hepatic excretory function in unaffected family members.

In an attempt to identify the heterozygotes state for progressive intrahepatic cholestasis (PIC), hepatic excretory function (131I rose bengal half-life (t1/2) and bromosulpthalein-transport maximum (BSP-Tm) was studied in controls and in eight members of a family, two of whom are affected with PIC. Values for 131I rose bengal t1/2 varied over a wide range in normal controls and were normal in patients with the syndrome of cholestasis and peripheral pulmonic stenosis in whom BSP-Tm and 45 min % retention were abnormal. 131I rose bengal t1/2 was abnormal in seven of eight family members. Despite this, BSP studies, including Tm, percent retention at 45 min, clearance were normal in all unaffected family members with the exception of the mother who has a reduced BSP-Tm. Fasting serum bile acid studies were normal in all unaffected family members. These studies do not clearly define the inheritance in this syndrome and suggest that any of the following three possibilities exist: 1) that the methods employed were not sensitive enough to detect heterozygotes, 2) that the inheritance in this syndrome is heterogenous; for instance, compound heterozygotes or autosomal dominant, or 3) that the family studies here represents a syndrome different from PIC.

Adult↗
PubMed1978

Hypoplastic left heart in a patient with 45,X/46,XX/47,XXX mosaicism.

Recurrence risks for primary congenital heart lesions are well defined. An infant with hypoplastic left heart syndrome is observed to have a short neck with a full skin fold on the right side, unilateral single palmar crease, and whorls on all ten fingers. She was found to have the Ullrich-Turner syndrome with mosaicism 45,X/46,XX/47,XXX. We believe the cardiac malformation was secondary to her aneuploidy. This could have important implications for prediction of recurrence risks to the parents. Chromosomal tests may be indicated for infants were severe congenital cardiac lesions, based on subtle clinical findings.

Female↗
PubMed1978

Efficacy and safety of long-term phenobarbital therapy of familial cholestasis.

Two brothers with progressive familial intrahepatic cholestasis were followed during four years of phenobarbital therapy to assess its long-term safety and efficacy. Effects attributable to phenobarbital included sustained relief of pruritus, lowering of serum bilirubin levels, and enhanced hepatic excretion of 131I-rose bengal; serum bile acid levels were only transiently decreased. Two brief interruptions in therapy resulted in symptomatic deterioration. Phenobarbital did not retard growth nor impede the response to vitamin D therapy of concomitant rickets.

Bile Acids and Salts↗