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Biomedical subjects

T R Wang

Publications and source records attributed to T R Wang.

At least 91 records · Page 5Linked to original sources

Chromosomal and biochemical screening on mentally retarded school children in Taiwan.

Governmental officials as well as medical scientists in Taiwan have worked hard in recent years to develop and to implement various measures, such as prenatal diagnosis and neonatal screening, to lower the incidence of hereditary diseases and mental retardation in the population. An inquiry into the possibility of devising a chromosomal and biochemical screening program and to apply it routinely to all the mentally retarded school children island-wide was the major aim of the present study. A collection of 1,614 blood samples was screened for phenylketonuria (PKU), galactosemia, homocystinuria, biotinidase deficiency, and congenital hypothyroidism. The IQ of these children ranged from 50-75 (1,397 children, moderate group) to less than 50 (217 children, severe group). Six cases of PKU (one tetrahydrobiopterin deficient and five classical) and three cases of thyroid dysfunction were found. The overall incidence of these two diseases was 0.56%. Of the 1,614 blood samples, 1,323 were cultured and karyotyped successfully. One hundred and twenty-five of them had chromosome abnormalities. The majority (64 out of 125) were trisomy 21. A remarkable difference in the percentage of mentally retarded children with chromosome abnormalities was observed between the moderate (7.87%) and severe (17.51%) retarded.

Blood Chemical Analysis↗

High-dose-rate afterloading technique in the radiation treatment of uterine cervical cancer: 399 cases and 9 years experience in Taiwan.

Carcinoma of the uterine cervix has been the leading malignant neoplasm treated in our department. A comparative study was carried out using conventional low dose rate (LDR) with 137Cs sources (less than or equal to 100 cGy/hr) versus high dose rate (HDR) with 60Co sources (greater than 100 cGy/min) in the intracavitary (IC) application following external pelvic irradiation. A total of 399 patients were treated with external RT plus HDR radiation treatment alone from February 1980 through December 1985. Stage IIb and IIIb comprised 79.4% of cases (317 cases). The rate of initial complete response of the tumor, local control, and survival rate seemingly were better in the HDR group, but there was no significant difference statistically. The actuarial survival rates in all cases/definitive RT cases are 85%/85% for Stage 0-IIa, 53%/70% for IIb, 43%/49% for IIIa, 43%/53% for IIIb, 42%/47% for IVa, respectively. Complications were similar and the rectal complications were slightly higher in HDR group. The combination of pelvic irradiation with HDR intracavitary irradiation was more convenient for patients and also for personnel. The HDR technique may be a good substitution for IC treatment.

Adult↗

Vernal keratoconjunctivitis with shield ulcer--a case report.

This 9-year-old boy had a three-year history of vernal keratoconjunctivitis. A shield ulcer developed in the superior part of the cornea. The shield ulcer is a rare manifestation of the disease. Although the cause of shield ulcer is unknown, the association of shield ulcer with large papillae suggests a mechanical cause. The symptoms of itching and mucous discharge were relieved after medications with topical steroid and cromolyn sodium, but the large shield ulcer was persistent. The vernal ulcer was treated with a 72 hours collagen shield. The ulcer healed rapidly within 5 days, leaving a corneal opacity about the level of Bowman's layer.

Child↗

Wiedemann-Beckwith syndrome with congenital central hypothyroidism in one of monozygotic twins.

A pair of monozygotic twins discordant for the Wiedemann-Beckwith syndrome (WBS) associated with congenital central hypothyroidism is described. During pregnancy, the mother was noted to have marked polyhydramnios and severe abdominal distension. At birth, a large diamniotic, monochorionic placenta was noted. According to a study of the minor blood groups and HLA typing, the possibility of monozygosity is 0.985. The mode of inheritance of the syndrome is debatable, and according to observations of discordance in monozygotic twins, single gene control seems unlikely. The thyroid function was noted to be subnormal when the proband was 3 days old. Oral thyroxine has been supplied since infancy. Repair of the umbilical hernia, the bilateral inguinal hernia, and a bilateral orchidopexy were done. A partial glossectomy was later performed to prevent progressive orofacial maldevelopment. The postnatal gigantism persisted as he grew.

Beckwith-Wiedemann Syndrome↗

[The cat cry (cri du chat) syndrome: report of a case with review of 10 cases at the National Taiwan University Hospital].

The cat cry (cri du chat) syndrome is a rare congenital anomaly due to partial deletion of the short arm of the No. 5 chromosome. Since the first report of Lejeune et al, in 1963, nearly 400 cases have been reported. However, the syndrome with a ring chromosome is still very rare and only 10 cases were reported up to 1988, since the first report of Rohde and Tompkins in 1965. To investigate the chromosomal changes in the patients of cat cry syndrome, a chromosomal study was carried out on 10 cases of cat cry syndrome from 5,870 cases submitted to the Laboratory of Cytogenetics, National Taiwan University Hospital from Nov. 1968 through Apr. 1988. These ten cases included 3 males and 7 females (M:F = 1:2.3) aged 2 days to 18 months with an average of 5.5 months. The most common clinical features are: cat-like cry, growth failure, microcephaly with mental retardation, round face with facial abnormalities including hypertelorism, downward slanting palpebral fissures, micrognathia and low-set ears, and simian crease. Laryngomalacia or underdevelopment of the larynx may be a factor causing the cat-like cry. On chromosome analysis, 8 out of these 10 cases showed the usual simple deletion of the short arm of the no. 5 chromosome, and the other 2 cases revealed ring chromosome including a case of pure ring chromosome([(4, XY, r (5)] and a case of mosaicism with one ring chromosome, 2 ring chromosomes and simple deletion of the short arm of the No. 5 chromosome.(ABSTRACT TRUNCATED AT 250 WORDS)

Chromosome Aberrations↗

Human sperm chromosome analysis in primary infertility: a preliminary report.

Human sperm chromosomes can be analyzed using the zona-free hamster egg system. In order to familiarize ourselves with this new technique and to investigate the chromosome aberration frequency in fertile and possibly infertile men, we performed sperm chromosome analysis in 39 successful experiments. The subjects were divided into two groups. Group 1 was healthy men with proven fertility. Group 2 was husbands of couples with unexplained infertility. Semen samples were prepared freshly or preserved in TEST-yolk buffer for 12 to 72 hours. In group 1 using fresh samples, the mean penetration rate was 67.40 +/- 14.08% (mean +/- 2SD), the maturation index was 1.33 +/- 0.31. For samples treated with yolk buffer, the mean penetration rate was 91.34 +/- 7.42%, and the maturation index was 1.58 +/- 0.42. There was a statistically significant increase in penetration after yolk buffer treatment (p less than 0.001). In group 1 there were 89 haploid chromosomes, four were aneuploidy (4.5%), and three with structural aberrations (3.4%). In group 2, for fresh samples, the mean penetration rate was 71.34 +/- 27.96%, and the maturation index was 1.37 +/- 0.25. For samples treated with yolk buffer, the penetration rate was 86.33 +/- 25.18%, and maturation index 1.40 +/- 0.23. In group 2, there were 135 haploid chromosomes, 6 were aneuploidy (4.4%), and 4 with structural aberrations (3.0%). There was no statistically significant difference between group 1 and group 2 in the penetration rate, maturation index and frequency of chromosome abnormalities.

Chromosome Aberrations↗

Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family.

We report on 2 brothers with severe manifestations of the whistling-face/windmill-vane-hand syndrome (also called "craniocarpotarsal dystrophy"; Freeman-Sheldon syndrome); they were born to normal, nonconsanguineous parents. Our observations support the theory of causal heterogeneity of this syndrome and suggest existence of an autosomal or X-linked recessive form of this syndrome.

Abnormalities, Multiple↗

Effects of alpha-bungarotoxin and d-tubocurarine on the post-tetanic potentiation of the mouse diaphragm twitch tension.

Effects of alpha-bungarotoxin (alpha-BuTX, 0.037-0.062 microM) and d-tubocurarine (d-Tc, 0.7-2.2 microM) on the post-tetanic potentiation (PTP) of the twitch tension were studied on the isolated mouse diaphragm preparation. In normal physiological solution, maximum PTP was obtained after 100 Hz tetanic stimulation for 5 sec. In preparations partially blocked by alpha-BuTX, PTP was less than in control preparations if tetanically stimulated at 100-200 Hz for 5-10 sec. In contrast, in preparations partially blocked by d-Tc (1-2.2 microM), PTP was increased if a higher frequency (500 Hz) was applied. This increase of the effect was independent of the duration of tetanic stimulation. Thus, d-Tc and alpha-BuTX have a different effect on PTP. The irreversibility of alpha-BuTX may contribute to the differences in mode of action of alpha-BuTX and d-Tc on the PTP of the twitch tension of the isolated mouse diaphragm.

Animals↗

[Common variable immunodeficiency: an immunological study (author's transl)].

A 17-year-old school boy with recurrent sinopulmonary infection and diarrhea was found to have marked hypogammaglobulinemia. He had no family history of similar disorder. Serum IgG was measured 240 mg/dl, whereas all the other classes of immunoglobulins were undetectable with Mancini's technique. The polymorphonuclear leukocyte function and complement system were normal. Although the numbers of T and B lymphocytes were normal, we demonstrated that the patient's B cells were able to produce only IgG in subnormal amount and unable to secrete other classes of immunoglobulins. No hyperactive suppressor T cell function or inadequate helper T cell function was found. Therefore, the basic immmunopathogeneic mechanism was ascribed to intrinsic B cell defect.

Adolescent↗