PubMed Health⌕ Search

Biomedical subjects

J W Hou

Publications and source records attributed to J W Hou.

At least 19 recordsLinked to original sources
PubMed2003

Hallermann-Streiff syndrome associated with small cerebellum, endocrinopathy and increased chromosomal breakage.

UNLABELLED: Hallermann-Streiff syndrome (HSS) is a rare clinic entity of unknown aetiology. Further clinical and metabolic-genetic evaluations are indicated. A 2-mo-old female baby presented with ocular abnormalities and severe failure to thrive since birth. The clinical features were compatible with the diagnosis of HSS. Further imaging, metabolic and cytogenetic examinations were performed. Features characteristic of HSS were dyscephaly with mandibular and nasal cartilage hypoplasia, microphthalmia, bilateral cataracts with congenital glaucoma, natal teeth and proportionate dwarfism. Rare anomalies such as choanal atresia and small cerebellum, very low insulin-like growth factor I level, hypothyroidism, generalized organic aciduria were also noticed. An increased chromosomal breakage rate is suggestive of the existence of some DNA repair defects in HSS patients. CONCLUSION: The associated anomalies in this patient may broaden the clinical spectrum of HSS. Underlying conditions of organic aciduria, growth factor deficiency and impaired DNA repair are likely to contribute to the progeria-like facies, congenital cataracts and growth failure.

Abnormalities, Multiple↗
PubMed2001

Can physicians' admission evaluation of patients' status help to identify patients requiring social work interventions?

OBJECTIVE: To evaluate the utility of these physicians' initial clinical assessments in identifying patients admitted from their homes who subsequently require social work intervention for discharge planning. DESIGN: Retrospective chart review of discharge disposition correlated with a prospective physician evaluation of patients. SETTING: An academic medical center. PARTICIPANTS: Consecutive patients, (2,571) men and women, admitted at the New York Hospital between July 1, 1997 and October 31, 1997. MEASUREMENT: Prospective evaluation of clinical status, functional status, illness severity and stability by physicians within 24 hours of admission. RESULTS: Older patients, sicker and less functional, have higher needs for social work intervention (P < 0.001). New nursing home placement patients were older and had worse function (P < 0.001). Total cost of hospitalization and length of stay were predicted by discharge disposition. CONCLUSION: Early discharge intervention has often been targeted as a potential mechanism to lower hospitalization cost and reduce length of stay. Age and physician evaluation of functional status at admission may provide early identification of those who require social work assistance.

Academic Medical Centers↗
PubMed2000

Growth of bifidobacteria in soymilk and their survival in the fermented soymilk drink during storage.

Growth of Bifidobacterium infantis CCRC 14633 and B. longum B6, in soymilk was investigated in the present study. It was found that soymilk could support the growth of both organisms tested. B. infantis grew better than B. longum in soymilk. Supplementation of bifitose (isomaltooligosccharie), glucose, lactose or galactose to soymilk increased the growth of B. infantis and B. longum as determined after 48 h of fermentation. On the other hand, addition of yeast extract, peptone, tryptone, casitone or N-Z-Case plus to soymilk enabled B. infantis to reach its maximum population in a shorter cultivation time of 24 h. Acid production by B. longum and B. infantis in soymilk was mainly non-growth associated, while in the yeast extract-supplemented soymilk, acid produced by B. infantis was found to be growth-associated. Populations of B. longum reduced more than did B. infantis in the prepared fermented soymilk drink during storage period. Viable population of both test organisms reduced less in the fermented drink held at 5 degrees C than at 25 degrees C. After a 10-day storage at 5 degrees C, viable B. infantis and B. longum reduced by 0.44 and 3.18 log CFU/ml, respectively, in the fermented drink. Addition of sucrose to the fermented drink resulted in an increased reduction of viable bifidobacteria during the storage period. This phenomenon was most prominent with B. infantis in the fermented drink held at 25 degrees C.

Animals↗
PubMed2000

Metabolic disorders mimicking Reye's syndrome.

BACKGROUND: Several metabolic disorders such as encephalopathy and hepatic dysfunction have been described as Reye's-like syndrome because they present with similar clinical manifestations that mimic Reye's syndrome. We performed a retrospective study to explore the underlying metabolic etiologies of Reye's-like syndrome in patients treated at National Taiwan University Hospital. METHODS: From January 1991 to June 1998, 19 children with a syndrome fitting the Reye's-like syndrome description were identified for study. Urine organic acid analysis, plasma amino acid analysis, liver pathology, and skin fibroblast enzyme assays were studied during the acute stage of illness. RESULTS: The etiologies of patients' syndromes included urea cycle disorders (n = 7), glycogen storage disease type Ia (4), primary carnitine deficiency (2), hereditary fructose intolerance (1), methylmalonic acidemia (2), and 3-hydroxy-3-methylglutaric acidemia (1). Fatty acid oxidation defects were suspected in the remaining two cases. CONCLUSIONS: A significant number of patients who present with Reye's-like syndrome have an underlying inherited metabolic disorder. In patients with Reye's-like syndrome, an accurate diagnosis is essential to ensure normal growth and development and to prevent recurrence of the condition.

Child, Preschool↗
PubMed2000

Renal malformations in children with Turner's syndrome.

Between 1988 and 1999, renal sonography and intravenous urography were performed to detect renal malformations in 54 patients with Turner's syndrome (TS). The mean age of these patients at diagnosis of TS was 9.2 +/- 4.6 years. Renal malformations were detected in 21 patients by intravenous urography and there was no significant difference in the frequency of renal malformations among different karyotype groups. Horseshoe kidney was the most common renal malformation, followed by duplex kidney. Fifteen of 21 renal malformations were not detected by renal sonography. We conclude that these TS patients had a high frequency of renal malformations, and that the detection rate of horseshoe kidney and duplex kidney by renal sonography was not satisfactory. Although renal sonography alone can be used to detect more severe renal malformations that may need further management, it may underestimate the frequency of renal malformation in children with TS.

Adolescent↗
PubMed2000

Autoimmune thyroiditis in children with Turner syndrome.

PURPOSE: To determine the frequency of autoimmune thyroiditis (AIT) and the risk of development of thyroid dysfunction in children with Turner syndrome. METHODS: From 1988 to 1998, 77 children with Turner syndrome were prospectively followed up at National Taiwan University Hospital. The mean (+/- standard deviation) age of these patients was 10.0 +/- 4.7 years at diagnosis of Turner syndrome and 17.4 +/- 5.2 years at the end of the present study. Antithyroglobulin antibody, antimicrosomal antibody, and thyroid function were assessed once every 6 months during the study period. RESULTS: Thyroid autoantibodies were detected in 21 of the 77 (27%) patients. The mean age at the detection of thyroid autoantibodies was 12.2 +/- 5.2 years. The cumulative frequency of AIT at 10 years after diagnosis of Turner syndrome was 36%. Both patients with a ring X chromosome developed AIT. Three of the 21 patients (14%) with AIT developed thyroid dysfunction. One patient developed hypothyroidism at the time of the detection of thyroid autoantibody. Two other patients were noted to have hyperthyroidism 0.5 and 2.5 years, after the detection of thyroid autoantibodies, respectively. CONCLUSIONS: Our data demonstrated a high frequency of AIT in Taiwanese children with Turner syndrome. Some of these patients later developed thyroid dysfunction. Hence, this study has confirmed that regular follow-up assessment of thyroid autoantibody and thyroid function in Taiwanese children with Turner syndrome regardless of their age is necessary for timely diagnosis of thyroid dysfunction and administration of appropriate treatment.

Adolescent↗
PubMed1999

Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect.

We report on a boy with pseudo-cleft of the upper lip, cleft palate, bifid uvula, lobulated tongue, hypoplasia of the epiglottis, both preaxial and central polydactyly of the hands (Y-shaped fourth metacarpals), bilateral preaxial polydactyly of the feet, postaxial polydactyly of the left foot, hearing impairment, and congenital heart disease with endocardial cushion defect. These clinical manifestations resembled oral-facial-digital syndrome type II (OFDS II, Mohr syndrome) or type VI (Váradi syndrome), associated with an atrioventricular canal. Clinical variability of OFDS II has been observed repeatedly. To the best of our knowledge, this is the first reported case of OFDS II with Y-shaped fourth metacarpals. In addition to Y-shaped fourth metacarpals, Mohr syndrome plus atrioventricular canal and hypoplasia of the epiglottis may represent an additional subgroup of OFDS.

Endocardial Cushion Defects↗
PubMed1999

Protective effects of sodium tanshinone IIA sulphonate against adriamycin-induced lipid peroxidation in mice hearts in vivo and in vitro.

Protective effects of sodium tanshinone IIA sulphonate against adriamycin-induced lipid peroxidation were investigated. Data showed that treatment with sodium tanshinone IIA sulphonate could prevent mice from decrease in body weight caused by adriamycin. It was found that myocardial lipid peroxidation in sodium tanshinone IIA sulphonate-treated mice was lower compared with that in adriamycin-treated ones. The activities of some endogenous antioxidant enzymes, such as superoxide dismutase, glutathione peroxidase and catalase, were higher in the sodium tanshinone IIA sulphonate group than that in the adriamycin group. In vitro experiments showed that sodium tanshinone IIA sulphonate could inhibit adriamycin-induced mitochondrial lipid peroxidation and swelling. Sodium tanshinone IIA sulphonate could scavenge adriamycin semiquinone free radical in heart homogenate dose-dependently. Thus, protective effects of sodium tanshinone IIA sulphonate may not only be related to its antioxidant activity but also to its regulation of antioxidant enzyme activities in the heart.

Abietanes↗
PubMed1999

Detection of KAL-1 gene deletion with fluorescence in situ hybridization.

We investigated the molecular cytogenetic status of two unrelated boys and their family members because they had features consistent with Kallmann syndrome but normal karyotypes. The first patient was a 6-year-old boy who suffered from ichthyosis, bilateral cryptorchidism, hyposmia, and neurologic disorders including mirror movements of the hands and nystagmus. Mild to moderate mental retardation was also noted in this boy, his mother, and maternal grandmother. Fluorescence in situ hybridization (FISH) study using probes for Kallmann (KAL), steroid sulfatase, and ocular albinism type 1 all showed nullisomy on Xp22.3 in this patient, and hemizygosity in his older sister, mother, and maternal grandmother. The second patient was a 1-year-old boy who had micropenis, cryptorchidism, and hypoplastic scrotum since birth. Family study disclosed a 28-year-old maternal uncle with cryptorchidism, lack of secondary sexual characteristics, and anosmia. FISH showed only the KAL gene deletion. Polymerase chain reaction analysis also showed an absence of the KAL-1 sequence. FISH is a useful tool for the detection of KAL-1 deletion in people with normal karyotypes but features consistent with Kallmann syndrome.

Child↗
PubMed1998

Jacobsen distal 11q deletion syndrome with a myelodysplastic change of hemopoietic cells.

We describe a male infant with unusual facial appearance, relative pancytopenia, bilateral simian creases, and an accessory nipple. Cytogenetic analysis showed deletion of the long arm of chromosome 11 [46,XY,del(11)(pter-->q23.2:)]. Bone-marrow study showed a myelodysplastic change of hemopoietic cells compatible with peripheral blood findings. Pachygyria of the temporal and frontal lobes was demonstrated by magnetic resonance image (MRI) of the brain. We present our findings in order to contribute to the information on 11q23 deletion.

Bone Marrow Cells↗
PubMed1998

Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan.

UNLABELLED: Recent molecular cytogenetic studies have elucidated the origin and nature of extra structurally abnormal chromosomes (ESACs) or small supernumerary chromosomes, which are often associated with developmental delay and malformations. We studied the prevalence of inv dup(15) in a nationwide screening programme for mentally retarded children in Taiwan and tried to correlate the genotype and phenotype in those patients. Fluorescence in situ hybridization (FISH) analysis using D15Z, D15Z1, and the cosmids from the Prader-Willi/Angelman syndrome chromosome region (PW/ASCR) was performed on 54 patients (0.45%) with ESACs from 11893 probands within a 5-year period. Of them, inv dup(15) was confirmed in 25 children (46.3%) by FISH analysis. The PW/ASCR probes were used to clarify the size and DNA composition of the markers. Patients with inv dup(15) chromosomes, containing only the heterochromatin or little euchromatin of the proximal 15q (i.e., pter-->q11:q11-->pter) may have a rather mild or nearly normal phenotype (group 1). Only one patient had some features suggestive of Angelman syndrome, but was considered to be a result of deleted (15)(q12) in the chromosome 15 homologue. Additional copies within D15S11 through GABRB3 (15q11.2-13) resulted in an abnormal phenotype which involved mental and developmental delay but was different from the classical phenotype of PW/AS (groups 2, 3). Signs of autistic behavior did occur in each group. FISH combined with microsatellite analyses showed that the marker was often of maternal origin in de novo cases (n = 12, 86%), or inherited from the mother in only one familial case. Down-inv dup(15) was mentioned in two cases. Unusual features including diaphragmatic eventration, hyperlaxity of joints, arachnodactyly, brain atrophy, epilepsy (particularly infantile spasm), ataxia, genital abnormalities, and cleft lip/palate were noted in those patients. This observation expands the range of phenotypic expression associated with this relatively common ESAC. CONCLUSION: Marked phenotypic diversities exist in children with inv dup(15), dependent upon the size or genetic composition of the markers, degree of mosaicism, parental origin and familial occurrence or not. Patients with a larger inv dup(15) marker chromosome including the PW/ASCR may have a higher risk of abnormalities, but not the typical Prade-Willi/Angelman syndrome phenotype.

Adolescent↗
PubMed1998

An epidemiological and aetiological study of children with intellectual disability in Taiwan.

A large-scale cytogenetic study of the causes of intellectual disability (ID) in children from special schools and institutions was made in Taiwan between 1991 and 1996. The screening methods and the identification of subjects with ID consisted of both clinical evaluation (i.e. photographs, questionnaires on family, pre-, peri- and postnatal history, and hospital records, including IQ) and further laboratory studies for diagnosis (i.e. standard chromosome analysis, and if indicated, high-resolution banding, cytogenetic fragile-X study or molecular techniques). A total of 11,892 patients were enrolled in this study. After excluding the acquired causes of ID, such as infections and the sequelae of brain insults, or the well-known single-gene disorders and other multifactorial diseases, 4372 (36.8%) cumulative cases were recruited for karyotyping studies according to their phenotypes and medical records. Abnormal karyotypes were noted in 1889 children (43.2% of all selected children). Thus, the overall incidence of chromosomal aberrations in subjects with ID was estimated as 15.9%. Down's syndrome, the most common cause of ID, accounted for 82.4% of all patients with abnormal karyotypes. The causes of ID were considered to be prenatal in 55.2% (n = 6564) of cases, perinatal in 9.5% (n = 1130), postnatal in 3.3% (n = 392) and unknown in 32.0% (n = 3805) of cases. Two large groups were classified: (1) serious ID (37%), including profound, severe and moderate categories; and (2) mild ID (63%). The causes (pre-, peri- and postnatal, and unknown) in these two populations were: 70%, 10.5%, 5.4% and 14.1%, and 46.5%, 8.9%, 2.1% and 42.5%, respectively. Genetic causes accounted for 38.5% (n = 4578) of all cases in this study, including 1557 with Down's syndrome, 233 with fragile-X syndrome, 199 with other various chromosomal abnormalities (i.e. unbalanced translocation, supernumerary markers and structural rearrangements), 238 with a defined or presumed single-gene defect, and 98 with a recognized contiguous gene syndrome (Prader-Willi, 56; Angelman, 34; Williams, 5; and Kallmann, 3); 2120 cases had familial ID. Multiple anomalies of undefined pattern, but without chromosomal aberration, infantile autism, ID of normal phenotype or family history, were of the other categories. Patients with a single-gene disorder or chromosomal aberration, especially those with unbalanced translocated or rearranged chromosomes, had genetic counselling and family studies. Pre-screening with photographs and questionnaires may give a better costbenefit than blind mass cytogenetic studies for each individual with ID.

Adolescent↗
PubMed1997

Angelman syndrome assessed by neurological and molecular cytogenetic investigations.

Angelman syndrome (AS) is characterized by severe psychomotor retardation, speech impairment, happy disposition with bursts of laughter, ataxia, convulsions, and some distinct physical anomalies. Correct diagnosis of AS is important because of its clinical implications, and once the disease is confirmed, familial genetic counseling becomes crucial. We evaluated 22 patients with a putative diagnosis of AS by both clinical and molecular cytogenetic analysis. A deletion of the region 15q11-13 could be identified cytogenetically in 11 cases by high-resolution technique (group I). Four additional cases were confirmed by fluorescence in situ hybridization (FISH) study with D15S11, SNRPN, D15S10, and GABRB 3 [Prader-Willi syndrome (PWS)/AS region probes] (group II). The common deletion of GABRB 3 was documented in those AS cases (n = 15) by FISH. The other 7 cases exhibited no deletion over 15q11-13 at either the cytogenetic or molecular level (group III). We compared the following associated neurological disorders: convulsions and abnormal EEG, microcephaly, sleep and behavior problems, brain anomalies proved by image studies, sexual precocity with pineal tumor among the three groups, as well as other clinical conditions including congenital heart disease, obesity, scoliosis, and hypopigmentation. In the present study, the differences in neurological and facial characteristics were not distinct among these groups. However, the associated conditions were more frequently observed in the patients with deletion than in those without deletion. The EEG features of AS appear to be less sufficient in helping identify patients at an early age before the clinical features become obvious. Therefore, a region involved in the major As phenotypes may contain only one or more tightly contiguous genes around the GABRB 3 locus, which may explain the clinical heterogeneity in AS.

Adolescent↗
PubMed1997

Optimization of walking in children.

Previous work demonstrated that adults naturally adopt a walking frequency to optimize physiological cost, symmetry, and stability. Furthermore, the optimal frequency is predictable using the force-driven harmonic oscillator (FDHO) model. However, no studies have established the developmental processes of optimization in children. Thus, the purposes of this study were to examine the predictability of the preferred stride frequency (PSF) and optimization features of 3- to 12-yr-old children using the FDHO model. Forty-five children and nine adults were measured for anthropometric data to calculate the predicted frequency. They later walked at three frequencies (PSF, PSF +25%, and PSF -25%) at a constant speed on a treadmill. The results indicated that the FDHO model was accurate in predicting the preferred frequency of children (prediction error < 0.07 s). We identified three stages of learning in the development of optimization: an early manifestation of sensitivity to resonant frequency, the subsequent development of ability to modulate walking frequency, and the final establishment of an adult optimization form at age seven. Our findings suggest that walking development may be determined by the dynamic cooperation of physiological, neural, and musculoskeletal systems with respect to the environmental context.

Adult↗
PubMed1997

Primed in situ (PRINS) labeling for rapid detection of numeric and structural chromosome anomalies.

Primed in situ (PRINS) labeling has been applied to replace the traditional fluorescence in situ hybridization (FISH) method for the detection of specific sequences in situ in several numerical and structural chromosome anomalies. PRINS is based on sequence-specific annealing in situ of an unlabeled DNA probe or oligonucleotide primer. The probe serves as a primer for chain elongation in situ, using the labeled nucleotides as substrate. An oligonucleotide, (CCCTAA) representing human telomeric sequences, was mixed with nucleotides, biotin-16-dUTP, and Taq DNA polymerase, and applied on metaphase slides with ring chromosomes 4, 13, 18, X and Y. Primers for alpha-satellite sequences specific for the centromeric regions of human chromosomes 13, 15, 18, X and Y were also used to characterize the nature and origin of unidentifiable supernumerary marker chromosomes. The specificity of PRINS in differentiating centromeric sequences of chromosome [3 from 21 which is not possible with FISH, was demonstrated. Absence of the telomeric sequences in all of the ring chromosomes was noted in normal and abnormal phenotypes. The results suggest a mechanism of ring formation, an end-to-end fusion after loss of the palindromic nucleotide sequences at the telomeres PRINS, a fast and sensitive method of detecting nucleic acid sequences in situ, may be a reliable technique for detecting chromosomal aneuploidies and some structural rearrangements.

Chromosome Aberrations↗