Biomedical subjects

Y N Chiu

Publications and source records attributed to Y N Chiu.

9 recordsLinked to original sources

PubMed2001

Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.

Ten cases of tetrahydrobiopterin (BH4) deficiency were identified in 1,337,490 newborns screened in a Chinese population in Taiwan. The high incidence of BH4 deficiency in the Taiwanese population may be explained by a founder effect, since all of the patients revealed 6-pyruvoyltetrahydropterin synthase gene mutations, and grouping N52S and P87S mutations together constituted 88.9% of the disease alleles. BH4 supplementation with restriction of high-protein foods gave control of plasma phenylalanine within normal range, and levodopa itself prevented seizure. However, the average intelligence quotient (IQ) score of these patients was only 76 +/- 14 (56-98). Statistically, the age of starting medication, including 5-hydroxytryptophan (5-HTP), was inversely correlated to IQ scores of these patients. We suggest the combination of BH4, levodopa and 5-HTP as the standard protocol to commence the treatment of BH4 deficiency as early as possible, although prenatal brain damage could have existed.

5-Hydroxytryptophan↗

PubMed2001

An epidemiological study of nocturnal enuresis in Taiwanese children.

OBJECTIVE: To estimate the prevalence of primary nocturnal enuresis (PNE) in Taiwanese children, and to examine factors associated with PNE and its severity. SUBJECTS AND METHODS: In all, 1683 questionnaires were sent to parents of schoolchildren aged 6-11 years randomly selected from three primary schools in Taipei City, Taiwan. The questionnaire was designed to collect information about the prevalence of and factors associated with PNE. RESULTS: Of the questionnaires distributed, 1176 (70%) were completed. PNE was reported in 92 (8%) of the children; nine (10%) of these children were wet > 3 nights per week. Factors associated with PNE included male gender, deep sleep, divorced parents or separated family and a positive family history of enuresis. Of these factors, only those children with deep sleep were more likely to have > 3 wet nights per week. CONCLUSION: The prevalence of and factors associated with PNE in Taiwan are similar to those reported in Western countries, but the percentage of children with severe enuresis is lower than in Sweden, France and Turkey. Deep sleepers are more likely to have severe enuresis.

Analysis of Variance↗

PubMed2001

Intellectual outcome of patients with congenital hypothyroidism detected by neonatal screening.

BACKGROUND AND PURPOSE: Mental retardation is a major sequela of delayed treatment for congenital hypothyroidism; congenital hypothyroidism can be treated early if detected with neonatal screening. We evaluated the intellectual outcomes of 62 patients with congenital hypothyroidism detected by neonatal screening at a major teaching hospital in northern Taiwan. The effects of thyroid pathology, age at the initiation of treatment, socioeconomic status, and severity of hypothyroidism on intellectual outcome were also analyzed. METHODS: All patients had euthyroid status at the time of intelligence testing. The Chinese Fourth Revision of the Binet-Simon Scales was used to evaluate the patients' intelligence between the ages of 3 and 6 years. RESULTS: The mean intelligence quotient (IQ) score was 102 +/- 18. Only four of the 62 patients were mentally retarded. Patients with lower initial serum thyroxine concentrations (T4; < 2 micrograms/dL) at the time of diagnosis of congenital hypothyroidism had significantly lower IQs (95 +/- 19, n = 26) than those with higher initial T4 concentrations (106 +/- 16, n = 36; p < 0.05). Patients with fewer than three ossification centers had lower IQs (91 +/- 20, n = 12) than those with three or more (104 +/- 17, n = 36; p < 0.05). Significantly lower IQs were also found in patients with a smaller femoral epiphysis area (< 0.1 cm2) (92 +/- 20, n = 15) than in those with larger epiphyses (106 +/- 15, n = 21; p < 0.05). The type of pathology (ectopia, athyrosis, dyshormonogenesis), age at the start of treatment (before or after 30 days of age), and socioeconomic status did not significantly affect the intellectual outcome. CONCLUSIONS: Our results indicate that intellectual outcome in Taiwanese patients with congenital hypothyroidism has been improved by neonatal screening and that the severity of hypothyroidism at diagnosis is the most important prognostic factor affecting intellectual outcome in these patients.

Age Factors↗

PubMed1999

Diagnosis of zygosity by questionnaire and polymarker polymerase chain reaction in young twins.

We developed a zygosity questionnaire for use in young twins and assessed its validity using the results of DNA diagnosis. The participants were divided into two groups: 105 pairs of adolescent twins (12-16 years old), 47 pairs of child twins (2-12 years old), and their respective parents. The DNA diagnosis of zygosity was made with polymarker polymerase chain reaction (PCR) amplification of five loci, using the AmpliType PM PCR Amplification and Typing Kit; this method has an accuracy rate of 99.0%. A parsimonious model for each sample was established using stepwise logistic regression analysis of the 20 items of the questionnaire. The total accuracy rate of the model was satisfactory for both parental reports (three items) and self-reports (three items) of adolescent twins (97.4 and 95.6%, respectively), while that for parental reports on child twins (two items) was less satisfactory (92.5%). For adolescent twins, if DNA diagnostic workups were limited to those with discordant reports either from themselves or from their parents, the accuracy rate increased to 100% for parental reports and 98% for self-reports.

Adolescent↗

PubMed1999

Intellectual outcomes of patients with congenital hypothyroidism not detected by neonatal screening.

Mental retardation is a major sequela of delayed treatment of congenital hypothyroidism. In this study, we investigated the intellectual outcomes of patients with congenital hypothyroidism diagnosed before a nationwide screening project started. Eighty-two patients had intelligence tests done while in the euthyroid state. Their mean intelligence quotient (IQ) was 78 +/- 21 (+/- SD) (n = 79). The mean verbal IQ was significantly higher than the mean full-scale IQ. The mean IQs of both ectopic thyroid (84 +/- 21, n = 28) and dyshormonogenic patients (85 +/- 14, n = 18) were significantly higher than that of patients with athyrosis (64 +/- 18, n = 19) (p < 0.05). Patients who were treated before 3 months of age had significantly higher mean IQs (90 +/- 16, n = 16) than those treated after 3 months (75 +/- 21, n = 63) (p < 0.01). Our results confirm that both patients with ectopic thyroids and those with dyshormonogenesis have better intellectual outcomes than athyrotic patients do, and that early treatment improves the intellectual outcome of patients with congenital hypothyroidism.

Adolescent↗

PubMed1996

Kleine-Levin syndrome in a boy with Prader-Willi syndrome.

A 9 1/2-year-old Taiwanese boy with Prader-Willi syndrome had the following characteristics: difficulties with sucking, feeding and hypotonia during infancy, a dysmorphic face (triangular mouth, high arched palate, almond-shaped eyes and large head circumference with a relatively narrow bifrontal diameter), borderline intelligence, hypogonadism, hyperphagia, skin picking and truncal obesity. The boy experienced two hypersomnia episodes, at age 8 and 9 years, with both episodes lasting for 10 days. During the two episodes, he was found to have an exacerbated case of hyperphagia, pica, poor emotional control, stereotyped speech and agitated behavior upon awakening. After each episode, the boy had complete remission. Our findings show that the two episodes are compatible with Kleine-Levin syndrome. The relationship between the two syndromes, the Prader-Willi syndrome and the Kleine-Levin syndrome, deserves further study.

Child↗

PubMed1995

[Play therapy for a child with separation anxiety disorder].

Separation anxiety disorder is characterized by severe and exceeding anxiety and fear when a child is facing separation with attachment objects. More over, it affected the child in language, emotional and social interest and development. These children usually brought to physician's attention due to refusal to go to school, social withdraw or multiple somatic complaints with attachment behavior wanted to be nearby or closed to the attachment objects. A child's early attachment relationship and previous separation experience play a major role in the formation of separation anxiety disorder. This report presents a psychoanalytically-oriented play therapy for a 2-year-8-month-old boy in 17 months period total of 54 sessions. According to the main themes in each session the process can be divided into 4 stages, namely establishing therapeutic relationship, expressing repressed emotions, management of transference, attachment and conflict in therapy, and self growth and termination. The formulation of this case and management were discussed.

Anxiety Disorders↗

PubMed1988

Severe generalized polyneuropathy in lithium intoxication.

A woman developed a severe generalized polyneuropathy in acute lithium intoxication. Nerve conduction studies suggested an axonal neuropathy. Her peripheral nerve problem became manifest after treatment had already started; therefore, a high serum lithium level is not considered to be the only factor for the development of a severe polyneuropathy in lithium intoxication.

Adult↗

PubMed1986

Urea cycle activity and arginine formation in rainbow trout (Salmo gairdneri)

Studies were conducted to determine whether rainbow trout fingerlings possess the ability to synthesize arginine via the urea cycle. Several urea cycle enzymes were detected in trout tissues. An experiment was conducted to determine whether the enzymes increase in response to starvation or in response to dietary protein level (0, 30, 40, 50% protein). Although some effects were observed, they did not appear to be consistent with the function of the urea cycle as a mechanism of detoxifying ammonia in the fish. The activities of kidney arginase and liver and muscle carbamoyl phosphate synthetase (CPS) were higher (P less than 0.05) when protein was omitted from the diet (P less than 0.05) than when it was present but were unaffected by protein level otherwise. The activities of liver arginase and kidney and muscle CPS and ornithine transcarbamoylase (OTC) were higher (P less than 0.05) in starved fish than in fish that received adequate levels of protein. Liver CPS and OTC were lower in starved fish than in fish fed 30% protein. L-[l-14C]ornithine hydrochloride and L-[carbamoyl-14C]citrulline, injected intraperitoneally, were incorporated into tissue arginine, a finding consistent with arginine biosynthesis via the urea cycle. When one-half of dietary arginine was replaced by equimolar amounts of glutamic acid, ornithine or citrulline, glutamic acid markedly reduced growth (P less than 0.05), whereas growth was depressed only slightly by ornithine (P less than 0.05) and not depressed by citrulline (P greater than 0.05). We conclude that trout have a urea cycle that provides for potential arginine biosynthesis.

Animals↗