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Biomedical subjects

T R Wang

Publications and source records attributed to T R Wang.

At least 73 records · Page 4Linked to original sources
PubMed1995

Prevalence of permanent primary congenital hypothyroidism in Taiwan.

The purpose of this study was to find the prevalence of permanent primary congenital hypothyroidism in Taiwan. From January 1988 to December 1990, there were 991,132 live births in Taiwan. Of these, 329,891 neonates were screened for primary congenital hypothyroidism. Fifty-seven cases of permanent primary congenital hypothyroidism were confirmed. Hence, the prevalence of permanent primary congenital hypothyroidism in that period in Taiwan was 1 in every 5,788 live births. There was a female preponderance with a female to male ratio of 1.7. Of 54 infants who had a thyroid scan, 36 were found to have an ectopic thyroid gland, while 11 were found to have dyshormonogenesis. Among the 57 infants, one case with a delayed rise in the serum thyrotropin level was missed on initial screening. When compared with other studies, these data suggest that the prevalence of permanent primary congenital hypothyroidism varies in different ethnic groups throughout the world.

Congenital Hypothyroidism↗
PubMed1995

Idiopathic juvenile osteoporosis: five-year case follow-up.

Juvenile osteoporosis is a disease of childhood and adolescence exhibiting marked clinical variability in bone change. The disease usually begins in the prepubertal period or even younger. A case of a Chinese boy suffering from back pain and generalized osteoporosis since 9 yr of age who spontaneously recovered at 14 yr of age when entering puberty is reported. The affected patient was clinically normal (as shown by X rays), until he fractured his left humerus. Metabolic studies indicated a negative calcium balance, but serum calcium, phosphorus, alkaline phosphatase, parathyroid hormone, calcifediol, calcitriol, cortisol and sex hormones were normal. X ray showed typical generalized osteoporosis with vertebral collapse. The disease markedly improved within 5 yr. No family history of inherited skeletal disorders or presenile osteoporosis was noted. The diagnosis of idiopathic juvenile osteoporosis was made.

Age of Onset↗
PubMed1994

Pneumococcal infection and immunization in children.

Pneumococcal infection persists as a major cause of pneumonia, bacteremia, and otitis media and is the important cause of meningitis in young children. Children less than 2 years of age show the highest incidence of pneumococcal diseases. Pneumococcal types 6A + 6B, 7F, 9V, 14, 18C, 19F + 19A, and 23F account for the large majority of disease isolates in the pediatric population. Bacterial clearance and antibody response were studied in young mice from mothers injected with pneumococcal type 9V polysaccharide (PS) conjugated with the inactivated pneumolysin to examine the protective immunity of young mice to pneumococcal infection. The injection of mice with pneumococcal PS-protein conjugate conferred the protective immunity to pneumococcal infection. The efficacy of pneumococcal vaccine might be enhanced by addition of inactivated pneumolysin in the form of PS-protein conjugate. The molecular size of pneumococcal type 19F PS or oligosaccharide used for preparing the PS-protein conjugate has a profound effect on the antibody response to the PS. The conjugate immunogen prepared from a large molecule of 19F PS produced a high antibody response to the PS in young mice. Development of a PS-protein conjugate vaccine for selected pneumococcal types will help in solving problems of poor immunogenicity of pneumococcal PS vaccine in young children.

Adolescent↗
PubMed1994

[The analysis of plain film presentation and bone age of achondroplasia].

Achondroplasia is the most common type of inheritant dwarfism. The diagnosis is mainly depended on clinical and plain film presentation. This study mainly focus on the characteristic presentation of plain film in achomdroplasia. We try to find the most consistent presentation and explain it through the development and growth of bone. The presentation in our 16 cases is as follows: Metaphyseal flaring 100% (16/16), Concave backs of vertebral body 100% (4/4), Short & wide tubular bone of hand & foot 85% (12/24). Square iliac bone 78% (11/14), Flare anterior end of ribs 76% (10/13), Decrease interpeduncular distance of lower L-spines 64% (9/14), Proimal < distal tubular bone 33% (5/15). Disproportionately long fibular bone 8% (1/13). We also analyze the heritant characteristics and conclude that most of achondroplasia are caused by mutation. The heritant trait is only 6%. According to bone age study, we found high percentage (31%) of delayed bone maturation.

Achondroplasia↗
PubMed1994

Congenital nephrotic syndrome with microcephaly: report of a case.

Congenital nephrotic syndrome is an uncommon disease with variable etiology, course and prognosis; its association with microcephaly is even more unusual. A case is reported here of congenital nephrotic syndrome because of focal glomerulosclerosis in a three-month-old female infant with microcephaly since birth. There were no known renal diseases nor hereditary disorders in her family. The serologic tests for syphilis, toxoplasmosis, rubella, and cytomegalovirus infections were negative. Magnetic resonance imaging of the brain showed diffuse atrophic change of the cerebral hemispheres and brain stem with a remarkable increase of extracerebral space. The infant died at the age of four months without any clinical cause other than congenital nephrotic syndrome. These findings, including congenital nephrotic syndrome and microcephaly accompanied by various other clinical symptoms, have been described as a clinical entity with an autosomal recessive mode of inheritance.

Atrophy↗
PubMed1994

Molecular cytogenetic studies of children with marker chromosomes.

The molecular cytogenetic characterization and clinical description of 15 children with marker chromosomes of unknown nature are presented. By combining both conventional cytogenetic methods (G-, C-, Ag-NOR- and Distamycin-A/DAPI bandings) and molecular techniques (fluorescence in situ hybridization), the chromosomal origin of these markers was successfully determined. The marker chromosomes were first characterized by cytogenetic techniques and later identified by fluorescence in situ hybridization, using a procedure involving stepwise hybridization of chromosome-specific DNA probes (alpha and classical satellites) at various conditions of stringency. There were four cases with bisatellited markers (of chromosome 15 origin), one with acrocentric satellited marker (of chromosome 13 or 21 origin), and two carrying markers that appeared to be autosomal rings (of chromosomes 13 and 18, respectively). The other eight cases belonged to mosaic (n = 5) or nonsupernumerary (n = 3) sex-chromosomal anomalies. Six were of Y and two of X chromosomal origin. Because no familial cases were found, these markers probably developed de novo. In cases of supernumerary marker with satellites, the origin was from acrocentric groups and had common features such as mild to moderate psychomotor retardation and mild facial dysmorphism. In the cases of autosomal ring, multiple anomalies and moderate to severe retardation occurred. For the category of sex-chromosomal origin, stigmata of Turner's syndrome and/or ambiguous genitalia were noted. Mentality was normal.

Child↗
PubMed1993

In vitro DNA methylation inhibits FMR-1 promoter.

In fragile X syndrome, the FMR-1 gene is changed by a CGG repeat mutation and an abnormal methylation at a CpG-island 5' to the gene. To elicit if methylation itself inactivates the gene, FMR-1 promoter was defined by deletion mapping and primer extension assay and was analyzed by in vitro methylation. Promoter activity was measured by transient expression and chloramphenicol acetyl transferase assay. Although this promoter contains several HpaII sites, it was not affected by methylation with HpaII methylase. However, the promoter was completely repressed by methylation with M. SssI which methylates all cytosines of CpG dinucleotides. This repression could not be overridden by SV-40 enhancer. This study indicates that methylation could be the direct cause of FMR-1 inactivation in fragile X syndrome.

Base Sequence↗
PubMed1993

Maternal and fetal outcome of pregnant women with idiopathic thrombocytopenic purpura: retrospective analysis of 25 pregnancies.

The optimal management of pregnant women with idiopathic thrombocytopenic purpura (ITP) is controversial. We reviewed our experience with 25 pregnancies in 19 women with ITP over a 14-year period. The incidences of bleeding during pregnancy and postpartum hemorrhage were 12.0% and 24.0%, respectively, in our series. No maternal mortality was noted. Thirteen infants were born by vaginal delivery and 12 by cesarean section. Moderate to severe neonatal thrombocytopenia (platelet count < 100 x 10(9)/L) was diagnosed in six newborns. One of them had intracranial hemorrhage complicated by a bilateral sensorineural hearing loss. ITP mothers with a prenatal platelet count < 30 x 10(9)/L and a platelet count < 100 x 10(9)/L at delivery had a higher risk of giving birth to infants with moderate to severe neonatal thrombocytopenia. Cesarean section may improve the outcome of these fetuses.

Adult↗
PubMed1993

[Clinical application of the single radial immunodiffusion (SRID) technic to detect antitubercle bacillus antibody].

Using the Tubercle bacillus Danish D1331 atoxic species as antigen and by single radial immunodiffusion (SRID) technic, the serum anti-TB-Ab of 454 patients with tuberculosis or other diseases were assayed and the results were reported. It was demonstrated that the sensitivity, specificity and accuracy of this method to diagnose tuberculosis were 81.78%, 97.92% and 90.31%; the positive and negative predictivities of this method were 97.22% and 85.77%, and the diagnostic efficiency was 80.08%. It was suggested this method had significant clinical value for diagnosing of tuberculosis.

Adolescent↗
PubMed1993

Clinical characteristics of congenital hypothyroidism detected by neonatal screening.

Various clinical features have been prospectively evaluated in 18 infants with congenital hypothyroidism detected by the National Taiwan University Hospital screening program from January 1990 to May 1991. During the same period of time, 24 suspected cases with normal thyroid function at referral were similarly evaluated and used as controls. Among the various clinical features evaluated, there were statistically significant differences between the two groups for the following five items: feeding problems, constipation, dry skin, umbilical hernia and enlarged posterior fontanel. However, these findings were subtle and nonspecific. Even when the neonatal hypothyroid index (Quebec) was used for evaluation, only one-half of these hypothyroid babies had scores of more than two. On the other hand, there was a statistically significant difference in the thyroid function test between the two groups whether it was determined from the filter paper spot or the serum. Our observations clearly demonstrate the difficulty in establishing a diagnosis of congenital hypothyroidism on clinical grounds only at an early age of life. This study also emphasizes the importance of biochemical screening in the early detection and treatment of hypothyroid infants.

Age Factors↗
PubMed1993

Cardiovascular disorders in Turner's syndrome and its correlation to karyotype.

Forty-nine out of 66 patients with Turner's syndrome and different karyotypes underwent full cardiological evaluations (physical examination, electrocardiography, chest X-ray and echocardiography). Congenital cardiovascular anomalies were found in 11 patients (22.4%). Among the cardiac anomalies in patients with Turner's syndrome, aortic malformations (aortic coarctation [27%], aortic stenosis [18%] and bicuspid aortic valve [18%]) were the most frequent. We observed that the most severe malformations were found in those with karyotype 45,X or 45,X/46,XX. No anomalies were detected in patients with the X isochromosome or those mosaic with the Y component.

Adolescent↗
PubMed1992

Familial nephrogenic diabetes insipidus: report of two families.

Familial nephrogenic diabetes insipidus is a hereditary disorder, generally transmitted by sex-linked recessive genes with varying degrees of penetrance in females. The onset of this disorder occurs in infancy, usually characterized by unexplained fever, recurrent dehydration and failure to thrive. If left unrecognized, recurrent hyperosmolality and hypernatremia will lead to retarded growth and neurologic sequelae. Intracranial hemorrhage, consciousness disturbance and even mortality may occur in cases of acute dehydration episodes. We report on two families with nephrogenic diabetes insipidus, whose various symptoms and signs were studied to establish an accurate diagnosis. In pediatric practices, it is very important to recognize early those infants with obscure symptoms in order to preserve their psychomotor development and growth potential.

Adolescent↗
PubMed1992

Mosaic ring chromosome 13 analyzed by fluorescence in situ hybridization: report of a case.

A five-year-old boy with psychomotor retardation, microcephaly, bilateral cataracts, hearing impairment and hypospadia with microphallus was found to have multiple cell lines from peripheral blood: 46,XY/46,XY, -13,+r(13)/46, Xy, -13, +dic r(13) in the ratio of 35%/61%/4% by trypsin-Giemsa, and C-bandings. Using fluorescence in situ hybridization (FISH) with biotin-labeled alpha-satellite probe (D21Z1/D13Z1) and fluorescence staining (FITC), we confirmed that the ring originated from chromosome 13. To elucidate changes in the chromosome ends in the ring originated from chromosome 13. To elucidate changes in the chromosome ends in the ring formation, we used human telomere-specific probes for FISH study; it showed an absence of telomeres on the ring chromosome, although Ag-NOR staining was positive. These findings yielded different breaking points on the ends of both the short and long arms of chromosome 13 from those reported in the literature.

Abnormalities, Multiple↗
PubMed1992

DNA fingerprinting in the Chinese with an oligonucleotide probe (GTG)5.

DNA fingerprinting is a very powerful tool that enables specific identification of individuals. In order to study fingerprinting patterns in the Chinese, the oligonucleotide probe designed by Epplen et al was used. Peripheral blood leukocyte DNA was digested with restriction enzyme Hinf I and probed by (GTG)5. Normal females and males were tested; all revealed very different DNA fingerprints. Most of the discernible bands in the gel were polymorphic; there was no specific association between any polymorphic band and the sex of the individual tested. In situ gel-hybridization was used with the oligonucleotide probe, and after electrophoresis, all procedures could be completed within one working day. Three patients who had received bone marrow transplants from their respective siblings had the same fingerprints as their donors. The inheritance of all bands from either the father or mother proved parents' authenticity. DNA fingerprinting with a oligonucleotide probe is obviously a useful technique. Clinical application may include engraftment monitoring, zygosity determination and paternity testing.

Base Sequence↗
PubMed1991

Esterase D and retinoblastoma gene loci are tightly linked to Wilson's disease in Chinese pedigrees from Taiwan.

Wilson's disease (WD) is a rare autosomal recessive disorder and has been mapped to the long arm of chromosome 13 (q14.1). We have analyzed the segregation of esterase D (ESD) and retinoblastoma (RB) gene loci in ten families of Chinese WD subjects living in Taiwan. The polymorphic information content (PIC) for ESD and RB was 0.18 and 0.31, respectively. We confirmed a tight linkage between these loci and WD with a lod score of 3.33 by multipoint linkage analysis. The data from this limited number of pedigrees also suggested the following order: centromere-WD-RB-ESD or centromere-ESD-RB-WD. ESD in conjunction with RB polymorphism would be useful in prenatal and presymptomatic diagnosis, as well as in carrier detection in informative pedigrees.

Alleles↗