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Biomedical subjects

T R Wang

Publications and source records attributed to T R Wang.

At least 127 records · Page 7Linked to original sources
PubMedDate not supplied

Marinesco-Sjögren syndrome: report of one case.

A three-year-old Taiwanese boy with Marinesco-Sjögren syndrome is reported. Psychomotor retardation had been noticed since early infancy with hypotonia, muscle weakness, delayed motor milestones and imbalance in sitting and standing. Bilateral visual impairment proved to be congenital cataract. Speech was limited to a few words. The parents were consanguineous, and there are two similarly affected siblings. The brain computed tomography revealed cerebellar atrophy. The evoked potential studies indicated a central origin or brainstem lesion. The histopathologic study of the muscle showed variation in fiber size and regenerating fibers. The patient received intraocular lens implantation and was discharged under a home rehabilitation program.

Child, Preschool↗
PubMedDate not supplied

Niemann-Pick disease type B with ocular involvement: report of a case.

Niemann-Pick disease (NPD) type B was diagnosed clinically and enzymatically in a 5-year-old girl presenting with failure to thrive, hepatosplenomegaly, diffuse interstitial infiltration of both lungs on chest roentgenograms, cherry red spot, and foam cells in the bone marrow aspirate. Intelligence and neurological examination were normal, sphingomyelinase activity was severely deficient in cultured skin fibroblasts. We present the first case of NPD type B in Taiwan and relevant literatures were reviewed.

Child, Preschool↗
PubMedDate not supplied

A clinical observation of achondroplasia.

Twenty-five cases of achondroplasia followed for a period of recent three years are reviewed. There were 17 males and 8 females. Twelve cases (48%) visited us before one-year-old. Familial vertical transmissions were noted in only three patients (12%) and others were new mutations. Patients usually had typical rhizomelic short stature, large head, frontal bossing and trident fingers. Their heights were around four standard deviations below the 50th percentile of the normal growth curve. The head girths of several patients were above the 97th percentile of the normal growth curve, but were normal in a special growth chart for achondroplasia. No mental problem was noted in our patients. Three of the seven patients older than five years had severe leg bowing and kyphosis, and the oldest one (17-years-old) had nerve compression symptoms. Genetic counselling and the management of complications in achondroplasia are important.

Achondroplasia↗
PubMedDate not supplied

Crisis in Gaucher disease simulating osteomyelitis: report of one case.

An 11-year-old boy with Gaucher disease developed acute bone pain of the left thigh, accompanied by fever and signs of inflammation. Initially he was treated as osteomyelitis with antibiotics. Cultures of blood and aspirate of a subperiosteal hematoma were negative for bacterial growth. Tc99m bone scan revealed relatively decreased uptake over the involved area, and the findings of magnetic resonance imaging were typical for Gaucher crisis. Although Ga 67 imaging was positive, the diagnosis of a bone pain crisis rather than an infection was made. Antibiotics were discontinued without sequelae. Differential diagnosis between Gaucher crisis and osteomyelitis is discussed.

Acute Disease↗
PubMedDate not supplied

Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome.

Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders, each with deficiency of an enzyme degrading glycosaminoglycans (GAG). To increase the ability to differentiate each of the disorders, the N-acetyl-galactosamine-4-sulfatase (arylsulfatase B) activity was measured in human peripheral leukocytes and skin fibroblasts. The assay employed p-nitrocatechol sulfate as an artificial substrate, and barium salt as an inhibitor to arylsulfatase A. Applying this method, a case of Maroteaux-Lamy syndrome (MPS type VI) was recognized in a six-year-old girl who had cloudy cornea, coarse-appearing face, mucopolysacchariduria, and white cell metachromasia. Her body height and mentality were normal. Arylsulfatase B activity in her skin fibroblasts was around 5% of normal. Diagnosis of MPS VI, especially in its milder form, depends on enzyme test.

Child↗
PubMedDate not supplied

[Anthropometric study on Down syndrome in Taiwan].

Anthropometric studies of Down syndrome in foreign children had been reported. To have similar information for Chinese children with Down syndrome, data based on 1624 measurements of height and 1208 measurements of weight were done on 496 children who took part in a collaborative study done via several hospitals and institutions in Taiwan. Height and weight were measured using standard methods. Additional data about these children were also solicited from hospital and school records to obtain semilongitudinal data which were then analyzed with SAS PC software. Descriptive statistics and percentiles were estimated using flexible mathematical functions. Results showed that ethnic Chinese children with Down syndrome were significantly shorter than normal children. Mean weight, however, was not significantly different from normal children. Centile charts for assessment of stature and weight are also presented.

Adolescent↗
PubMedDate not supplied

Restriction fragment length polymorphisms at the methylmalonyl CoA mutase locus in normal Chinese.

L-methylmalonyl-CoA mutase (MCM; E.C. 5,4,99,2) is the apoenzyme for catalyzing the isomerization of L-methylmalonyl-CoA to succinyl-CoA. Genetic deficiency of MCM leads to the accumulation of precursors and abnormal metabolites of L-methylmalonyl-CoA. This can be associated with fulminant metabolic acidosis, widespread secondary aberrations in systemic metabolic homeostasis, mental retardation, or even neonatal death. This disorder is termed methylmalonic acidemia (MMA). This report, describes the use of an authentic, full-length cloned human cDNA probe, MCM26, kindly provided by Dr. Fred Ledley, for Southern blot analysis of genomic DNA. The pattern of EcoRI, Sac I and Hind III restriction endonuclease sites is reported from 14 unrelated control individuals of Chinese background. A Southern blot by EcoRI to the MCM26b probe reveals invariant bands of 4.1, 3.8, and 2.2 kb respectively. By EcoRI to the MCM26c probe, 7.2 kb is invariant. By HindIII to the MCM26c probe, invariant bands are 4.8 and 2.7 kb respectively. By SacI to the MCMb probe, invariant bands are 17, 8.0, 6.0, 3.6 and 1.8 kb respectively, while the polymorphic band is at 5.6kb. When combined with more diverse samples and additional polymorphisms, this restriction fragment length polymorphism may be useful for genetic diagnostic and linkage studies of MCM in MMA.

Chromosome Mapping↗
PubMedDate not supplied

Restriction fragment length polymorphisms at the ornithine transcarbamylase locus in normal Chinese.

Ornithine transcarbamylase (OTC) (EC 2.1.3.3) is an hepatic mitochondrial enzyme involved in the detoxication of ammonia; it catalyzes the second step of the urea cycle, and is X-linked in human beings. Deficiency of OTC results in ammonia intoxication and, often, in early infant death, especially in males. This report describes the use of a nearly full-length cloned human cDNA for OTC for Southern blot analysis of genomic DNA. The pattern of MspI, TaqI, HindIII and EcoRI restriction endonuclease sites from 28 control individuals of Chinese backgrounds is reported. A Southern blot by Msp I reveals invariant bands of 19.5, 5.2 and 1.9 kb respectively, as well as one set of polymorphic bands 6.6/6.2 kb. By TaqI, invariant bands are 4.8, 2.7, 1.9, 1.7 and 1.4 kb respectively, while polymorphic bands are found at 4.1/3.9 kb. By HindIII, 3.2 kb is invariant but 4.0/2.9 kb polymorphic. By EcoR I, invariant bands are 9.0, 3.6, 3.4 and 1.45 kb respectively, but 2.5 kb is polymorphic. Combined with study of the alteration of restriction sites in the informative pedigrees, this information is expected to allow accurate heterozygote detection and prenatal diagnosis of OTC deficiency.

Asian People↗
PubMedDate not supplied

Unusual cardiac malformations in Holt-Oram syndrome: report of two cases.

The Holt-Oram syndrome is a hereditary disease which associated with upper limbs anomalies and cardiac defects such as secundum type atrial septal defect. Two cases of this syndrome with unusual cardiac findings are reported: One has an unroofing coronary sinus type atrial septal defect and preexcitation syndrome, the other has pentalogy of Fallot.

Abnormalities, Multiple↗
PubMedDate not supplied

Prader-Willi syndrome with chromosome 15 interstitial deletion: report of one case.

We report one classical case of Prader-Willi syndrome, and show the specific chromosome number 15 interstitial deletion. This one and half year old boy had the typical face of Prader-Willi syndrome and its characteristic histories of hypotonia, poor feeding, poor growth during early infancy, and then improved appetite and growth since the later half infancy. He also had bilateral cryptorchism and hypogonadism. With an aid of high resolution chromosomal banding technique, we found a small deletion including band 11 to 13 of the long arm of one of his chromosome number 15. This kind of chromosomal aberration is frequently found in Prader-Willi syndrome. This is the first case of Prader-Willi syndrome with chromosomal changes we found in Taiwan. Chromosomal changes may help both the diagnosis and the understanding of etiologies of many disease. We hope the ability to detect small chromosomal lesions will initiate our study to those hereditary diseases.

Chromosome Deletion↗
PubMedDate not supplied

Isovaleric acidemia: report of one case.

A case of isovaleric acidemia appearing as diabetic ketoacidosis with acute encephalopathy and pancytopenia was reported. A three-year-old male patient, with mild psychomotor retardation, had recurrent bouts of acute encephalopathy and pancytopenia after episodes of upper respiratory infection. At admission, he had vomiting associated with dehydration, acidosis, ketonuria, coma and a pungent, rather unpleasant odor. Laboratory features included hyperglycemia, hyperammonemia, hyperamylasemia, hypocalcemia, neutropenia, thrombocytopenia and subsequent anemia. Urine organic acid profiles showed profuse amount of 3-beta-hydroxyisovaleric acid (295 mg/ml) and isovalerylglycine (616 mg/ml) by gas chromatography-mass spectrometry. Levels of amino acids in the serum and urine were normal. The patient received treatment with rehydration and insulin, with rapid improvement. After the acute illness, blood glucose levels returned to normal. The patient was doing well on a low-protein diet in recent 3 months.

Acute Disease↗
PubMedDate not supplied

Fetal alcohol syndrome: report of one case.

A male premature baby, whose mother was an alcoholic, was diagnosed as a case of fetal alcohol syndrome according to the following: (1) early-onset intrauterine growth retardation and persistent postnatal growth failure; (2) psychomotor retardation; (3) craniofacial dysmorphism; (4) tetralogy of Fallot; and (5) radioulnar synostosis. The literatures on the clinical manifestation, pathogenesis, and outcome of fetal alcohol syndrome are reviewed.

Fetal Alcohol Spectrum Disorders↗
PubMedDate not supplied

45,XO/46,XY in a newborn with the stigmata of Turner syndrome: report of one case.

A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: short stature, hypertelorism, bilateral epicanthal folds, ptosis, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias. He also had patent ductus arteriosus, the secundum type of atrial septal defect and mitral stenosis. Chromosomes of peripheral blood showed mosaicism of cells with 45,XO/46,XY. An exploratory laparotomy was performed at five months of age. The right side ovotestis-like gonad was removed. The left side gonad in the scrotum was normal. No pathological gonadoblastoma was found.

Abnormalities, Multiple↗
PubMedDate not supplied

[Wilson disease presenting as fulminant hepatic failure, acute hemolytic anemia and renal failure: report of one case].

Wilson disease presenting as fulminant hepatic failure, severe hemolysis and renal failure is rare in the literature. A ten-year-old boy--complaining of abdominal pain, jaundice, tea-colored urine, and anemia was admitted to this hospital; examination showed Kayser-Fleischer rings, anemia associated with hemolysis, mildly elevated serum transaminases, extremely elevated bilirubin levels, low serum ceruloplasmin level, slightly elevated serum copper, excessive 24-hour urine copper excretion, and severe renal function insufficiencies. Under the impression of Wilson disease with fulminant hepatic failure, the patient was treated by oral D-penicillamine 1 gm per day, intravenous zinc sulphate (about 8 mg per day elemental zinc), and given other supportive treatment. Unfortunately, the patient died of hepatic failure complicated with septic shock 21 days after the onset of symptoms. Autopsy found liver copper content was 586.92 ug/gm dry weight and kidney copper content: 300.19 ug/gm dry weight, abnormally high as compared with normal tissue. A review of the literature led to conclusion that the best treatment for Wilson fulminant hepatic failure is liver transplantation.

Acute Disease↗
PubMedDate not supplied

Mortality and survival in Down syndrome in Taiwan.

In order to investigate the morbidity and mortality in individuals with Down syndrome(DS), we reviewed 237 cases of DS visiting our hospital in a ten-year period. There were 150 males and 87 females with age range from newborn to 25 years. The major illnesses included: 1) congenital heart disease (CHD), 42.6%; with endocardial cushion defect, ventricular septal defect, atrial septal defect and patent ductus arteriosus as the common types; 2) frequent or major respiratory tract infections, 34.2%; 3) summer fever, 5.5%; 4) major infective episodes other than pneumonia, 5.0%. Other diseases such as seizure disorder, gastrointestinal tract anomalies and thyroid dysfunction were also noted. There were 28 deaths of them and the causes of mortality were 1) CHD with congestive heart failure (CHD with CHF) and pneumonia (46.9%); 2) CHD with CHF and sepsis (10.7%); 3) CHD with CHF (14.3%) and 4) acute leukemia with infection (10.7%) respectively. Most of the mortality occurred during the first year of life, especially in patients with CHD. In our series, the one year survival rate was 93.6%; the result indicates that life expectancy in DS is much better than generally believed.

Adolescent↗
PubMedDate not supplied

Clinical analysis of infants of diabetic mothers.

The clinical spectra of 82 infants of diabetic mothers (IDMs) encountered in the past 15 years are presented. The perinatal mortality rate was 6.1%, The observed morbidities of the 78 live-born IDMs were: large for gestational age, 35.9%; prematurity, 12.8%; small for gestational age, 12.8%; respiratory distress, 17.9%; low Apgar score, 6.4%; nerve injury, 2.6%; hypoglycemia, 10.3%; hyperbilirubinemia, 28.2%; polycythemia, 12.8%; hypocalcemia, 5.1%; hypertrophic cardiomyopathy, 3.8%. Furthermore, 15.9% (13/82) of these infants suffered from congenital malformation, a rate nearly 10 times higher than that of the general neonatal population born in this hospital. In comparing sugar control during organogenesis, the mothers who had malformed infants had significantly higher fasting plasma glucose level than the mothers who had normal infants (P less than 0.05). Since tight control of maternal diabetes is mandatory to reduce the prevalence of mortality and malformation of the IDMs, we suggest that there is an urgent need to improve health education and supervision before and during pregnancy in all diabetic women.

Adult↗