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Biomedical subjects

M Y Chung

Publications and source records attributed to M Y Chung.

At least 19 recordsLinked to original sources

Infradiaphragmatic pulmonary sequestration combined with cystic adenomatoid malformation: unusual postnatal computed tomographic features.

We present a surgically proven case of infradiaphragmatic pulmonary sequestration combined with cystic adenomatoid malformation. Prenatal magnetic resonance imaging revealed a well-defined hyperintense mass with a hypointense septum in the left infradiaphragmatic region. Postdelivery computed tomography (CT) and 3-month follow-up CT showed replacement of intralesional cystic areas by solid content. Such unusual postnatal CT changes, to our knowledge, have not been previously documented.

Adult↗

Temporal aspects of the fine-scale genetic structure in a population of Cinnamomum insularimontanum (Lauraceae).

Cinnamomum insularimontanum Hayata (Lauraceae) is an insect-pollinated, broad-leaved evergreen tree with bird-dispersed seeds. We used allozyme loci, Wright's fixation index, spatial autocorrelation statistics (Moran's I), and coancestry measures to examine changes in genetic structure among four age-classes within a recently founded study population (60 x 100 m area) in southern Korea. There were no significant differences in expected heterozygosity among age classes. However, significant genetic differentiation among age classes was detected (P<0.0001). Fixation indices within age classes showed significant deficits of observed heterozygosity, which may be caused by partial selfing. The homogeneity of genetic structure among four age-classes may reflect similar spatial patterns of seed immigration from surrounding populations occurring year after year. Finally, the average Moran's I and coancestry estimates indicated essentially random spatial distributions of alleles for each of the four age-classes and between seedlings and 2-4 year juveniles vs adult trees. These findings are very similar to those observed in the same study area for another member of the Lauraceae, Neolitsea sericea, which has a very similar life history and ecological characteristics (ie, bird-dispersed fruits, insect pollination, and a similar age structure). Together, these results suggest that the fleshy drupes of lauraceous species represent an adaptation to aid in the independent dispersal of seed by birds, which in turn may increase the genetic diversity of founders colonizing new habitats.

Biological Evolution↗

Absence of mutations in human ubiquitin fusion-degradation protein gene in tetralogy of Fallot.

Congenital defects in human chromosome 22q11 deletion syndromes are associated with the 3rd and 4th pharyngeal pouch during fetal development. In the cardiovascular system, these disorders are usually apparent as conotruncal heart defects and aortic arch anomalies. UFD1L, a gene that is downregulated in dHAND-deficient mice, expressed in the mouse embryo at the branchial arch and mapped to human chromosome 22q11, has recently been strongly suspected to be responsible for the phenotypes expressed in 22q11 deletion syndromes. Its putative causal role in relevant congenital cardiovascular malformations was studied by gene dosage analysis, mutation screening and sequence analyses. Sixty cases of tetralogy of Fallot with no detectable chromosome deletion at 22q11 or 10p13 were examined, including 51 cases of simple tetralogy of Fallot, and 9 cases of tetralogy of Fallot with pulmonary atresia. None of these patients revealed deletion limited to a portion of the UFD1L gene. Although mobility shift was found by heteroduplex analysis in 24 cases at exon 4 and flanking sequences, further sequence analysis demonstrated only two silent nucleotide variations and a single nucleotide polymorphism in intron 4. Our data suggest that, although the UFD1L gene is mapped to 22q11 and is expressed during early murine development at both cardiac and cranial neural crests, it is not responsible for the majority of tetralogy of Fallot cases in humans.

Adaptor Proteins, Vesicular Transport↗

Increased vascular endothelin-1 gene expression with unaltered nitric oxide synthase levels in fructose-induced hypertensive rats.

The present study aimed to investigate whether altered expression levels of endothelin-1 (ET-1) and nitric oxide synthase (NOS) are related to the development of insulin-resistant hypertension. Male Sprague-Dawley rats were fed a fructose-rich diet for 5 weeks. Systolic blood pressure significantly increased in fructose-fed rats. While serum free fatty acid (FFA) and plasma nitrite/nitrate (NOx) levels did not significantly differ between the fructose-fed and control groups, plasma insulin and serum triglyceride (TG) concentrations significantly increased in the former. ET-1 mRNA expression in the aorta increased to 195% in fructose-fed rats. Neither the protein expression of constitutive NOS (cNOS) nor that of inducible NOS (iNOS) were significantly affected by fructose feeding. However, NOx levels in the aorta were significantly increased. These results indicate that an increased expression of vascular ET-1 may be causally related to the development of hypertension in fructose-fed rats. However, an altered role of the vascular nitric oxide (NO) pathway may not be primarily involved in the development of fructose-induced hypertension.

Animals↗

Neonatal lupus erythematosus in association with anti-RNP antibody: a case report.

Neonatal lupus erythematosus (NLE) is a syndrome with the manifestation of dermatological, cardiac, hepatic, or hematological abnormalities. Thrombocytopenia has been documented infrequently in association with congenital heart block or lupus dermatitis in NLE. However, isolated neonatal thrombocytopenia may be the only manifestation of NLE. The strong association with maternal anti-SSA/Ro antibodies suggests a role for these antibodies in the pathogenesis of NLE. There are some data to suggest that anti-SSB/La and, rarely, anti-RNP antibodies play an important pathological role in some cases of NLE. The manifestation of anti-RNP-positive NLE was somewhat atypical. We report a case of anti-RNP-positive NLE with the manifestation of thrombocytopenia. Anti-SSA/Ro antibodies, which were negative based on the use of immunodiffusion, did exhibit low titer when later tested by enzyme-linked immunoadsorbent assay (ELISA).

Antibodies, Antinuclear↗

Chromosome 22q11 microdeletion in conotruncal heart defects: clinical presentation, parental origin and de novo mutations.

Using genotype analysis and multiplex quantitative polymerase chain reaction (PCR), chromosome 22q11 deletions were examined in 252 patients with syndromic or isolated conotruncal heart defect. Of these patients, 19 (7.5%) were found to be hemizygous for chromosome 22q11. Parental origin of the deleted chromosome was determined in 16 cases: one patient (6.3%) inherited a deleted chromosome 22 from his mother; all the others (93.7%) consisted of de novo mutations. One-third (5/15) of the de novo 22q11 deletions were of paternal origin and the remainder derived maternally. These results lend further support to our current knowledge of chromosome 22q11 microdeletion syndromes and their implications for the genetic counseling of individuals diagnosed with conotruncal heart defects. Possible mechanisms for gender-biased parental origin are discussed.

Adolescent↗

Changes of glucose transporters in the cerebral adaptation to hypoglycemia.

Repeated hypoglycemia increases the glycemic thresholds of responses of counterregulatory hormones and of symptoms to subsequent hypoglycemia. This may in part be due to cerebral adaptation to hypoglycemia, which involves glucose transporter-1 (GLUT1) and glucose transporter-3 (GLUT3). To investigate the role of brain GLUT1 and GLUT3 in cerebral adaptation to chronic hypoglycemia, GLUT1 and GLUT3 mRNA and protein expressions were determined in rat brain using RT-PCR and Western blot analyses after 4- and 8-day hypoglycemic insults. Hypoglycemia was induced in rats by twice daily subcutaneous injection of intermediate-acting insulin with dosage adjustment according to the blood glucose levels. Target level of hypoglycemia (< 2.5 mmol/l) was achieved at least once a day in all rats included. Control rats received saline injections. Blood glucose levels during the 4 and 8 days of insulin treatment were 2.18 +/- 0.12 and 2.68 +/- 0.07 mmol/l, respectively. Following the 4 and 8 days of hypoglycemia, GLUT1 mRNA levels did not significantly change. GLUT3 mRNA expressions after the 4 days of hypoglycemia increased by 36.9 +/- 9.4% compared with that in control rats (P = 0.031), but after the 8 days of hypoglycemia, did not change. On Western blot analysis of total particulate rat brain membrane, amount of 55-kDa isoform of GLUT1 protein did not change after 4- and 8-day hypoglycemia (88.1 +/- 4.9% of control, P = 0.240; 92.1 +/- 1.4% of control, P = 0.096, respectively). In contrast, the expression of GLUT3 protein in the 4-day hypoglycemic rats increased by 51.4 +/- 8.4% compared with that in control rats (P = 0.004). After the 8 days of hypoglycemia, the expression also tended to increase by 44.9 +/- 14.4% (P = 0.119). There was an inverse correlation between the amount of GLUT3 protein expression and mean blood glucose levels in 4-day hypoglycemic and control rats (r = -0.886, P = 0.019). These data suggest that GLUT3 isoform plays a role in the cerebral adaptation to chronic hypoglycemia.

Adaptation, Physiological↗

Spatial distribution of allozyme polymorphisms following clonal and sexual reproduction in populations of Rhus javanica (Anacardiaceae).

Rhus javanica L. (Anacardiaceae), a dioecious tree with both sexual reproduction and clonal growth, is widely distributed in warm temperate, subtropical, and tropical regions in east Asia. We used allozyme loci and spatial autocorrelation statistics to examine clonal structure and the spatial distribution of allozyme polymorphisms in two Korean populations. Populations of the species maintain moderate levels of allozyme variability (mean He=0.175, GST=0.060), and high levels of multilocus genotypic diversity (mean DG=0.971). Clone-pair distances ranged from 1.4 m to 57.4 m, and had high mean values of 24.0 m and 25.6 m in the two study populations. Approximate genetic patch widths were inferred to be 23-25 m. The results indicated that within populations there is moderate (one study population) or no (other study population) spatial genetic structure among sexually reproduced individuals, and vegetatively reproduced genotypes also are almost randomly distributed. The spatial genetic structure among sexually reproduced trees in the one case is probably caused by limited pollen dispersal in that population, and the lack of structure in the other probably results from the short time elapsed since founding. It appears that clonal reproduction also does not contribute substantially to genetic isolation by distance neither among the sexually reproduced individuals nor the total population. Ramets often establish long distances from their progenitors and thus do not substantially increase the degree of local consanguineous matings.

Genetic Markers↗

Spatial genetic structure in a Neolitsea sericea population (Lauraceae).

Neolitsea sericea (Bl.) Koidz. (Lauraceae) is a dioecious, insect-pollinated, and broad-leaved evergreen tree with bird-dispersed seeds. We used allozyme loci, F-statistics, and spatial autocorrelation statistics (Moran's I ) to examine the changes in genetic structure among five age classes within a study population (60 m x 100 m area) in southern Korea. No significant differences in expected heterozygosity were found among the age classes. The mean F-values averaged over loci were similar among age classes and showed overall conformance of heterozygosities with Hardy-Weinberg proportions. Differences in allelic frequencies among age classes were small (mean G(ST)=0.012), and statistically significant only for one locus (Pgd-2). The mean Moran's I-values for each of five age classes indicated essentially random spatial distribution. The homogeneity of genetic structure and genetic diversity among the five age classes may reflect the occurrence of similar reproductive events, year after year. The results may reflect the attractive red drupes of N. sericea in that they cause various frugivorous birds to disperse the seed long distances and independently, which in turn may help N. sericea maintain higher levels of genetic diversity within populations.

Animals↗

Apoplexy of pituitary macroadenoma after combined test of anterior pituitary function.

Pituitary apoplexy has been reported as a very rare complication of combined tests of anterior pituitary function and of TRH or gonadotropin-releasing hormone (GnRH) administration in pituitary tumor. A 34-year-old man with a GH-secreting pituitary macroadenoma and diabetes mellitus received an injection of 400 microg TRH, 100 microg GnRH, and 0.15 U/Kg regular insulin. Twenty minutes later, he complained of a severe headache and vomited. Visual acuity and visual field did not change and his headache was persistent during the next 24 hours of conservative management. Magnetic resonance imaging (MRI) of the sella turcica done the day after the event showed definitive elevation of the optic chiasm and slight enlargement of tumor and focal areas of mixed high signal and low signal intensities in the macroadenoma on noncontrast T1-weighted images. Headache subsided markedly within a day of octreotide therapy. Transsphenoidal removal of the pituitary tumor was performed 9 days after the hormone study. Ischemic necrosis and hemorrhage were confirmed in the acidophilic adenoma with positive immunostaining for GH. Postoperative course was uneventful and his serum insulin-like growth factor-1 (IGF-1) level and blood glucose levels were normalized. Three months after the surgery the dynamic test was repeated without adverse effects. To our knowledge, this is a very rare case of apoplexy of GH-secreting pituitary adenoma after a combined stimulation test of anterior pituitary function.

Acromegaly↗

Preferentially deleted chromosome region 9p21 in large hepatocellular carcinomas.

The role of somatic deletions in chromosome 9 and chromosome 22 loci in hepatocellular carcinomas (HCC) was studied. Twenty-one paired HCC and adjacent tumor-free liver tissue samples were examined for loss of heterozygosity at six chromosome 9 and ten chromosome 22 loci. Among informative cases, the highest LOH rates were observed at 9p21 (40% or 4/10 at IFNA) and 9q23 (23% or 3/13 at D9S318). Our observed LOH rate at 9p21 was significantly higher than the background level previously reported for the same tumor type. Clinical data indicate that chromosome 9p21 deletions occurred preferentially in larger tumors (>5 cm diameter). However, a sequence analysis of the MTS1 gene coding region in cases of 9p21 LOH did not reveal any change, suggesting another tumor suppressor gene as the LOH target.

Aged↗

Non-Hodgkin's lymphoma of the thyroid and adrenal glands.

We report a case of non-Hodgkin's lymphoma(NHL) with simultaneous involvement of both thyroid and bilateral adrenal glands. Literature review on a computerized search showed that this is an extremely rare condition. The final diagnosis of diffuse large B cell lymphoma was confirmed by biopsies of thyroid gland, enlarged cervical lymph node, and adrenal gland. The significant endocrine dysfunction of the thyroid, adrenal or other endocrine glands was absent in our case. The patient responded dramatically to three cycles of chemotherapy with no complication or endocrine dysfunction and continues to be followed.

Adrenal Gland Neoplasms↗

Unexpected delivery before arrival at hospital: an observation of 18 cases.

BACKGROUND: We identify and discuss risk factors related to prolonged hospitalization, as compared with the average hospital stay (5.1 days) of normal delivery neonates throughout the last 10 years, associated with babies delivered unexpectedly in southern Taiwan. METHODS: This is a retrospective case series study; those babies delivered unexpectedly, including both pre-term and term infants, were pooled out from normal-birth babies, and their laboratory data and clinical histories were reviewed and discussed. RESULTS: There was a total of 18 babies delivered unexpectedly during the past 10 years. Out of these 18 babies, there was only 1 mortality. The mean gestational age was 38 weeks; the mean birth body weight was 3097 g, and the average hospital stay was 6.2 days. Possible clinical factors related to prolonged hospitalization include the following: hypothermia, hypoglycemia, hyperkalemia, polycythemia, and a relatively high ratio of positive findings of chest X-ray study. CONCLUSION: The best way to reduce prolonged hospitalization caused by unexpected delivery is by prevention, or if this is not possible, by increasing the knowledge and effectiveness of handling intrapartum accidents. Hypothermia, hypoglycemia, hyperkalemia, polycythemia, and positive chest radiological results were the most common reasons for prolonged hospital stays in unexpectedly delivered neonates. However, due to the limited cases in our study, a larger group study is still needed in the future for more precise statistical information.

Delivery, Obstetric↗

Systematic mutation analysis of the catechol O-methyltransferase gene as a candidate gene for schizophrenia.

OBJECTIVE: Catechol O-methyltransferase (COMT) is involved in the degradation of catecholamine neurotransmitters. Recent linkage studies of schizophrenia and molecular studies of velocardiofacial syndrome suggest that the COMT gene might be a candidate gene for schizophrenia. METHOD: The authors systematically searched for mutations and microdeletion of the COMT gene in 177 Chinese schizophrenic patients from Taiwan; 99 comparison subjects were also studied. RESULTS: Five molecular variants were identified: c.186C > T at exon 3, c.408C > G at exon 4, c.472G > A at exon 4, c.597G > A at exon 5, and c.821-827insC at the 3' untranslated region. However, no differences in the genotype and haplotype frequencies of these molecular variants between the schizophrenic and comparison subjects were detected. Furthermore, no microdeletion was identified among the patients. CONCLUSIONS: These data suggest that the COMT gene does not play a major role in the pathogenesis of schizophrenia, and the genotypic overlap between schizophrenia and velocardiofacial syndrome was rare in this cohort.

Catechol O-Methyltransferase↗

Myocardial infarction with Moyamoya disease and pituitary gigantism in a young female patient.

Myocardial infarction is very rare in young female patients with systemic vascular disorders. Moyamoya disease is a cerebrovascular disease associated with an abnormal vascular network. This report presents a 19-year-old female patient who suffered from chest pain and exertional dyspnea for 2 months prior to admission. She had a history of Moyamoya disease and pituitary gigantism since childhood. Her ejection fraction on echocardiogram was 20% and a perfusion defect with partial reversibility in the anterior wall was demonstrated on stress single photon emission computed tomography (SPECT). Diagnostic coronary angiogram revealed critical stenosis in the middle left anterior descending artery, which was treated by coronary stenting. Her subjective symptoms were relieved and the perfusion defect seen on SPECT decreased after coronary intervention.

Adult↗

Prevalence and parental origin in Tetralogy of Fallot associated with chromosome 22q11 microdeletion.

OBJECTIVE: Tetralogy of Fallot is a common cardiac anomaly that is associated with chromosome 22q11 microdeletion. In this study we examined the mode of transmission as well as the parental origin of microdeletion in patients with tetralogy of Fallot. METHODS: Eighty-four children with sporadic tetralogy of Fallot (40 boys and 44 girls; mean age, 34 months) were analyzed for microdeletion at chromosome 22q11 by genotype analysis, using five microsatellite markers, D22S427, D22S941, D22S944, D22S264 and D22S311, and confirmed by quantitative polymerase chain reaction, using TUPLE1 and D22S264. All parents of these subjects consented to their own participation and their child's participation in the clinical evaluation and molecular study. To provide a molecular characterization of microdeletion, we isolated DNA from the parents and typed their DNA with each of the five polymorphic markers. RESULTS: Sixty-six patients were associated with pulmonary stenosis; and 8 of these cases (12%) had microdeletion. Eighteen patients were associated with pulmonary atresia, and 6 (33%) of these cases had microdeletion. The parental origins of the 14 patients with microdeletion were paternal in 3 cases and maternal in 11 cases. The most common mode of transmission was de novo without parental hemizygosity (93%). Transmission by autosomal dominant heredity was uncommon (7%). CONCLUSIONS: Biased parental origin was consistently found in tetralogy of Fallot patients with chromosomal 22q11 microdeletion. Our results indicated a higher prevalence of microdeletion because of inheritance of maternal microdeletion (78%).

Abnormalities, Multiple↗

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS): a case report.

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder characterized by a massively enlarged urinary bladder without mechanical outlet obstruction and microcolon, as well as a hypoperistaltic bowel with normal ganglion cell distribution. We report one such case to discuss the findings of antenatal ultrasound and the radiologic and pathologic features of this condition.

Abnormalities, Multiple↗

Wife battering in Hong Kong: accident and emergency nurses' attitudes and beliefs.

A questionnaire was sent to all nurses working in Accident and Emergency departments in Hong Kong, to survey their attitudes, beliefs and practice in the handling of wife battering cases presenting to the Emergency department. Questions about incidence, epidemiology, rationale for intervention and effects on children of abused women were included. Traditional cultural beliefs were found to be an important factor influencing nurses' attitude in this issue. Nurses on the whole were not well prepared to handle victims of domestic violence. The importance of training and nurse protocol for the handling of these patients was discussed.

Cultural Characteristics↗