Leukocyte nitroblue tetrazolium test.
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Adolescent↗
Biomedical subjects
T R Wang
Publications and source records attributed to T R Wang.
Intracellular bactericidal activity of polymorphonuclear neutrophils in children with acute bacterial infections.
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Acute Disease↗
[Job's syndrome--a case report (author's transl)].
A 4-year old boy with chronic eczema since early infancy had been admitted thrice to the hospital because of recurrent staphylococcal infections including furunculosis, lymphadenitis, pneumonia and pyothorax. Exhaustive immunologic studies revealed normal humoral, cell-mediated and non-specific immunities except extremely high serum IgE level and dysfunctions of granulocytes including decreased Fc and complement receptors, lowered chemotactic response (around the lower range of normal), slightly impaired intracellular killing of staphylococci and possibly impaired reactions to candida and BCG. In spite of long-term antimicrobial prophylaxis, cold abscesses continued to appear and the eczematous skin lesions waxed and waned.
Child, Preschool↗
Candida and streptokinase-streptodornase skin tests in normal infants and children.
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Adolescent↗
Apert syndrome associated with septo-optic dysplasia.
Apert syndrome and septo-optic dysplasia are rare congenital structural disorders which have not been associated previously; we report a female infant with this association. Brain sonography and computed tomography revealed agenesis of the septum pellucidum; optic hypoplasia was demonstrated by funduscopic evaluation. We postulate that an embryopathic factor, which manifests at 5-6 weeks gestation, may result in this new association. Transverse craniectomy was performed in the hope of preserving brain development. Neither hypopituitarism nor adrenal insufficiency was observed; however, clinical manifestations and laboratory data provided evidence of inappropriate antidiuretic hormone syndrome.
Acrocephalosyndactylia↗
Neonatal hepatitis: a follow-up study.
Fifty-six patients with moderate to severe neonatal hepatitis were followed for 12 to 78 months. Two died from causes other than hepatitis itself and were free from liver disease at the time of death. Of the remaining 54 patients, seven died of hepatitis, two are living with chronic liver disease and psychomotor retardation, and 45 are living without liver disease. High peak bilirubin levels and liver histologic findings of periportal fibrosis, moderate to severe portal inflammation, and/or diffuse giant cell transformation appear to be major factors predictive for poor outcome. Cytomegalovirus (CMV) infection was a common associated infection. Evidence of CMV infection was found in 22 (49%) of the 45 patients studied. Three of them died, and one is still living with cirrhosis of the liver. Metabolic disorders such as alpha-1-antitrypsin deficiency, galactosemia, and aminoaciduria and/or aminoacidemia were carefully screened but were not found in these cases. A fatal case had a sibling who had died of a similar disease course. Chinese infants may have metabolic and familial cholestasis diseases requiring further investigation.
Bilirubin↗
Study of human Y chromosome polymorphism in Taiwan.
The Y chromosome is one of the human chromosomes carrying significant amount of constitutive heterochromatin. To investigate the prevalence of Y chromosome polymorphism and its clinical significance in Taiwan, we analyzed the Y chromosome among 6,286 unrelated males by G-banding and, if necessary, fluorescence in situ hybridization studies. The prevalence of the Y chromosome variants were: large Y (Yq+) 3.6%, pericentric inverted Y [inv(Y)] 0.27%, and small Y (Yq-) 0.59%, respectively. More than 99% of those variants were from their biological fathers. The incidence of the Y polymorphisms was similar in three groups: children with mental retardation, other chromosomal aberrations or multiple congenital anomalies, and normal controls. The Yq12 heterochromatin region may contribute to the variation in Y chromosome length. The prevalence of inv(Y) and Yq+ was higher than those in the white population. Our results conclude that there are no indications that Yq+, inv(Y) and Yq- are connected with any deviations in intelligence or with an increased risk of physical malformations or other chromosomal disorders, which is of great help for genetic counseling.
Abnormalities, Multiple↗
Normal values of inner canthal distance, interpupillary distance and palpebral fissure length in normal Chinese children in Taiwan.
Ocular measurements, including inner canthal distance, outer canthal distance, interpupillary distance, and palpebral fissure length are important in the evaluation of congenital deformities and posttraumatic telecanthus. In this research, 4446 normal Chinese children in Taiwan were enrolled in our study. The sample of 284 full term neonates, 2742 infants and children aged from 1 month to 3 years, and 1420 preschool children were measured for inner canthal distance, outer canthal distance, interpupillary distance and palpebral fissure length. We calculated the mean value and standard deviation of the ocular measurements in normal Chinese newborns, infants and preschool children in Taiwan under 5 years. No significant sex differences were observed. Compared with previous studies, inner canthal distance, outer canthal distance and interpupillary distance in Chinese children in Taiwan were wider than those in Caucasian children, but the palpebral fissure length was not significantly different. We also found that inner canthal distance was wider than palpebral fissure length at the same age; therefore it was not correct to diagnose hypertelorism in Chinese children in Taiwan; as if an imaginary third eye could fit between the eyes. Thus, we suggest that measurements should be adjusted with normal standards specific for race. Consideration of the position of eyes is relevant for the diagnosis of a large number of syndromes.
Child, Preschool↗
Carnitine transport defect presenting with hyperammonemia: report of one case.
Carnitine (beta-hydroxy-gamma-trimethylaminobutyric acid) is involved in the transport of long-chain fatty acids into the mitochondrial matrix and removal of potentially toxic acylcarnitine esters. Carnitine transport defect is a very rare metabolic disease. A 7-month-old female infant was found to have consciousness disturbance, hyperammonemia, hepatomegaly and elevated transaminases. Both the concentrations of free carnitine and acylcarnitines in her blood were very low. The diagnosis of carnitine transport defect was confirmed by assays of carnitine uptake and transport in skin fibroblasts. She responded dramatically to carnitine therapy, and there was no hyperammonemia attack for more than 3 years. Her cardiac function also remained normal.
Ammonia↗
Molecular diagnosis of Apert syndrome in Chinese patients.
Apert syndrome is a clinically distinct condition characterized by craniosynostosis and severe syndactyly of the hands and the feet. Apert syndrome results from either of two specific nucleotide substitutions, both C-to-G transversions, in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine if Chinese Apert syndrome patients carry the same mutations, fifteen unrelated Apert syndrome patients and a fetus from a mother with Apert syndrome were studied by the use of restriction analysis and direct sequencing. The results demonstrated that 13 had the Ser252Trp mutation and 2 had the Pro253Arg mutation. Prenatal diagnosis of the fetus was successfully made.
Acrocephalosyndactylia↗
Corneal opacity and congenital glaucoma associated with massive heparan sulfaturia: report of one case.
A four month-old male infant was noted to have had severe corneal opacity since birth. Buphthalmos, increased intraocular pressure and corneal opacity with neovascularization were noted during physical examination. There was neither dysmorphic face nor hirsutism and the liver and spleen were impalpable. In addition, hypotonia, poor head control, and absence of Moro and grasping reflexes were also noted. There was no evidence of congenital infection by TORCH study. Tests of both urine and plasma amino acids were within normal limits. However, excessive urinary excretion of heparan sulfate was detected by thin-layer chromatography. Corneal transplantation was performed at 6 months old. Histopathological examination of the corneal button showed homogeneous thickening of Bowmen's membrane and intracytoplasmic pinkish substances in corneal stroma. The Alcian blue stain was positive, which was consistent with mucopolysaccharidosis of cornea. The manifestation of this case may be a clinical variant of Sanfilippo's syndrome (Mucopolysaccharidosis type III).
Corneal Opacity↗
An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I.
Thanatophoric dysplasia (TD) is the most common form of lethal neonatal dwarfism with micromelic shortening of the limbs, macrocephaly, platyspondyly, and reduced thoracic cavity. R248C mutation in the extracellular domain of fibrobast growth factor receptor 3 (FGFR3) was common in TD type I. Two TD type I patients were examined for R248C mutation by use of restriction digestion and direct sequencing. The results showed that both patients carried R248C mutation. Because of the homogeneity of R248C mutation among different ethnic populations, all TD patients should be analysed using this PCR-based method presented in this work.
Humans↗
Congenital contractural arachnodactyly (Beals syndrome).
Congenital contractural arachnodactyly (CCA, Beals syndrome) is an autosomal dominant disorder that is phenotypically similar to Marfan syndrome. CCA is characterized by arachnodactyly, dolichostenomelia, scoliosis, multiple congenital contractures and abnormalities of the external ears. We report here 28 patients with CCA, in whom a wide range of phenotypic expression is observed. These individuals usually have abnormally formed ears, limited extension of fingers and toes, arachnodactyly, clinodactyly, delay of developmental milestones and psychomotor retardation. Limited extensions of elbows, knees and hips are not constant features. With time, those affected individuals experience spontaneous improvement of their contractures but the kyphosis, unlike the joint contractures, tends to be progressive. No ocular problems were found in all patients, but congenital heart defects were detected in 32.2% of them. Atrial septal defect and ventricular septal defect are common components in our patients. Within the only one family with two multiply affected siblings there is little phenotypic variation between the patients.
Adolescent↗
Agnathia in one of heterozygous twins.
Agnathia is a rare developmental field complex in humans with the structural defects limited to the craniofacial region. This rare complex can occur in combination with holoprosencephaly and situs inversus. Here we report on a pair of twins. The female infant had characteristic malformation complex of agnathia, while her twin brother showed normal appearance eventually. This case is the first reported case of isolated agnathia in twins.
Adult↗
3-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: report of one case.
We report the case of a patient with 3-hydroxy-3-methylglutaric aciduria who presented with a repeat attack of Reye like syndrome clinically. Vomiting and somnolence, generalized tonic and clonic convulsions with hepatomegaly, hyperammonemia, liver function impairment, and mild metabolic acidosis were the presenting signs. 3-hydroxyisovaleric, 3-methylglutaric, 3-methylglutaconic and 3-hydroxy-3-methylglutaric acids were detected in the urine by gas chromatography-mass spectrometry. 3-methylglutarylcarnitine was also identified in the urine by fast atom bombardment and tandem mass spectrometry. Therefore, the possibility of metabolic disease should be considered in neonates and infants with repeat attacks of Reye like syndrome and a history of similarly affected siblings.
Female↗
Identification of sex chromosomal abnormalities by fluorescence in situ hybridization.
Chromosomes can be specifically stained in metaphase spreads and interphase nuclei by fluorescence in situ hybridization (FISH). Case 1 was a 20 year-old female patient who had chromosomal analysis six years ago because of primary amenorrhea and short stature. Three cell lines were identified: 45, X (20%); 46, X plus an unidentifiable fragment (50%) and 46, X plus an isodicentric X chromosome of short arm fusion (30%). Case 2 was a 6 year-old girl with the problems of clitoromegaly and growth retardation. By use of in situ hybridization with biotinylated X and Y centromere-specific alpha repetitive sequence probes, we were able to identify the marker chromosomes to be X and Y-chromosome originated, respectively. The use of FISH can facilitate clinical cytogenetic diagnosis, and allows fast screening of a large number of metaphases. This technique is applicable to the screening of other types of chromosomal mosaicism as well.
Adolescent↗
Atlantoaxial subluxation and syringomyelia in Down syndrome: report of one case.
Atlantoaxial instability is a relatively frequent finding in Down syndrome, but syringomyelia is a rare symptom. A four-year-old girl with Down syndrome was noted to have one year history of torticollis and progressive motor deterioration presenting with abnormal gait, ataxia or quadriparesis for the past three months. She was admitted because of acute urinary retention. Physical examination showed distended urinary bladder, hyperreflexia, bilateral ankle clonus and the existence of Babinski's signs. The x-ray films of the cervical spine showed widening between the joint space of atlas and odontoid processes. Magnetic resonance imaging revealed C1-C2 subluxation with syringomyelia. After bladder training and cervical orthosis, the symptoms improved.
Atlanto-Axial Joint↗
Measurement of urinary orotic acid by gas chromatography-mass spectrometry.
Urinary excretion of orotic acid is increased in many inborn errors of ureagenesis and some other diseases. Urine orotic acid is found to be accurately measured by gas chromatography-mass spectrometry (GC-MASS) under the conditions for organic acids analysis. Therefore, GC-MASS analysis of urine is also helpful in the diagnosis of urea cycle disorders in patients with hyperammonemia. Specific tests for orotic acid measurement are not necessary if urine organic acids analysis is available.
Calibration↗