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Biomedical subjects

S H Tay

Publications and source records attributed to S H Tay.

9 recordsLinked to original sources

BamH1 polymorphism in the Chinese, Malays, and Indians in Singapore and its application in the prenatal diagnosis of beta-thalassemia.

The distribution of restriction fragment length polymorphism (RFLP) at the BamH1 site of the beta-globin gene was investigated in the Chinese, Indian, and Malay race in Singapore. The sample comprised of 183 normal individuals and 35 beta-thalassemia carriers in which 13 were couples with at least one beta-major child. The results from this study indicate that BamH1 polymorphism will be informative in 22% of pregnancies at risk for beta-thalassemia major in Chinese, 19% in Malays and 7% in Indians. In prenatal diagnosis using BamH1 polymorphism for one beta-major affected family, the fetus was diagnosed to be normal or beta-carrier. The validity of BamH1 polymorphism in the exclusion of beta-thalassemia major was subsequently confirmed at birth by globin chain biosynthesis.

Child↗

Prenatal diagnosis of alpha- and beta-thalassaemias in Singapore--current status.

Prenatal diagnosis was performed in 31 pregnancies where the fetuses were at risk for either homozygous alpha(0) - or beta-thalassaemia. First-trimester prenatal diagnosis by DNA analysis using chorionic villi was carried out for 17 pregnancies at risk for homozygous alpha (0)-thalassaemia. The alpha-globin genes in fetal DNA were detected by gene mapping using restriction endonuclease mapping and hybridization with cloned alpha-globin probe. Homozygous alpha (0)-thalassaemia was detected in four fetuses and the results were subsequently confirmed by electrophoresis of the cord blood where only Hb Barts was detected. Prenatal diagnosis for beta-thalassaemia was carried out by globin chain biosynthesis using fetal blood at 18-20 weeks' gestation. Using carboxymethyl (CM) sepharose chromatography, homozygous beta-thalassaemia was predicted in six pregnancies, and one fetus carried Hb E-beta thalassaemia. The seven pregnancies were terminated and globin chain analysis using cord blood confirmed the prenatal diagnoses. The remaining seven fetuses were diagnosed as either normal or beta-thalassaemia carriers. Using DNA analysis and globin chain biosynthesis for prenatal diagnosis of homozygous alpha(0)- and beta-thalassaemia, a 100% correlation was achieved with fetuses predicted to possess the homozygous condition.

Chorionic Villi Sampling↗

TRH stimulation in non-toxic goitres in children and adolescence.

Non-toxic goitres are commonly encountered in clinical practice, but in the majority the aetiology is unknown. Possible aetiological factors include iodine deficiency, biosynthesis defects, immunologic factors or goitrogens. The consequential effect on thyroid function may be clinically undetectable. In this study, serum thyrotrophin (TSH) response to thyrotrophin-releasing hormone (TRH) stimulation was studied in a group of school children with non-toxic goitres to delineate those who may benefit from treatment. Evaluation of possible aetiological factors responsible for goitrogenesis was made by assessment of thyroid autoantibodies and history of exposure to goitrogens.

Adolescent↗

Prenatal diagnosis of alpha-thalassaemia by analysis of enzymatically amplified DNA sequences.

A new method using enzymatically amplified DNA sequences for the prenatal diagnosis of alpha-thalassaemia was evaluated. DNA from a foetus at risk for alpha(0)-thalassaemia was analysed to detect the presence of alpha-globin genes. The procedure involved amplification of a 136-base-pair (bp) region of the alpha-globin gene complex between the psi alpha and alpha 2 region. Amplification was performed using a pair of oligonucleotide primers and a heat stable DNA polymerase which allowed repeated cycles of DNA synthesis at 72 degrees C. A 136 bp product was detected by gel electrophoresis indicating the foetus was not positive for Bart's hydrops foetalis. The result was confirmed using the gene mapping technique. Prenatal diagnosis of alpha-thalassaemia by DNA amplification offers two advantages over the gene mapping technique since radionucleotides are not used and results can be obtained in 3 days.

DNA↗

Prenatal diagnosis of homozygous alpha 0-thalassaemia by direct DNA analysis of chorionic villi in Singapore.

First-trimester prenatal diagnosis by DNA analysis was carried out for seven pregnancies at risk for homozygous alpha 0-thalassaemia. Transabdominal placental biopsy was carried out at 10-12 weeks' gestation. The presence of alpha-globin genes in the fetal DNA was determined by restriction endonuclease mapping and hybridization with cloned alpha-globin probe. Homozygous alpha 0-thalassaemia was detected in two fetuses and the pregnancies were interrupted. Alpha 0-thalassaemia in both cases was confirmed by electrophoresis of the umbilical cord blood where only haemoglobin Bart's was detected. The remaining five fetuses were diagnosed as normal or as possessing alpha-thalassaemia-1 trait and the pregnancies are being carried to term. The use of DNA analysis in prenatal diagnosis of fetuses at risk for homozygous alpha 0-thalassaemia enables detection of the haemoglobinopathy at 10 weeks' gestation.

Chorionic Villi↗

Clinical observations on nail changes in psoriasis.

410 cases of psoriasis [282 males (68%) and 127 females (31%)] were interviewed and examined to study the nail changes. The prevalence of nail changes was 78.0% (males = females). Common changes were pitting (67.5%) and onycholysis (67.2%). Dystrophy of varying degrees occurred in 35.0%, subungual hyperkeratosis in 24.7%, discoloration in 18.4%, loss of nails in 2.8% and pustulation in 1.3%. Pitting and onycholysis was the most common combination (45.6%). Nail changes were significantly more common in patients who have moderate to severe psoriasis as compared with patients with mild psoriasis; in patients who have psoriasis for greater than 5 years as compared with patients who have psoriasis for less than 5 years; and in patients older than age 50 as compared with those aged less than 50. A definite correlation was found between the prevalence of nail changes and the presence of scalp and periungual psoriasis, and the presence of joint involvement.

Arthritis↗