2.A case of neonatal intrahepatic cholestasis caused by citrin deficiency complicated with congenital biliary atresia.
Fan TONG ; Jian-bin YANG ; Xiao-lei HUANG ; Xue-lian ZHOU ; Ru-lai YANG
Chinese Journal of Pediatrics 2013;51(11):863-865
Biliary Atresia
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diagnosis
;
etiology
;
therapy
;
Bilirubin
;
blood
;
Biomarkers
;
blood
;
Calcium-Binding Proteins
;
deficiency
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Cholangiopancreatography, Magnetic Resonance
;
Cholestasis, Intrahepatic
;
diagnosis
;
etiology
;
therapy
;
Citrullinemia
;
diagnosis
;
etiology
;
therapy
;
DNA Mutational Analysis
;
Humans
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Infant
;
Jaundice
;
diagnosis
;
etiology
;
therapy
;
Liver Function Tests
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Male
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Mitochondrial Membrane Transport Proteins
;
genetics
;
Mutation
;
Organic Anion Transporters
;
deficiency
3.Analysis of blood lead levels of preschool children in Zhejiang Province with historical comparison.
Ru-lai YANG ; Zhi-wei ZHU ; Zheng-yan ZHAO
Journal of Zhejiang University. Medical sciences 2006;35(6):658-661
OBJECTIVETo know the blood lead levels (BLL) of preschool children in Zhejiang Province between 1997 to 2003.
METHODSThe BLL of preschool children was investigated in this province with cluster sampling in 2003, and compared with the results with that of 1997. The BLL was determined with graphite oven atom absorption spectrography method.
RESULTThe average BLL of 2013 preschool children in 2003 was (0.34 +/- 0.13) micromol/L, similar with that of 1997 [(0.35 +/- 0.26)micromol/L (P >0.05)]. There were 274 children with BLL >or= 0.483 micromol/L, and the rate of lead poisoning was 13.61 %, lower than that of 1997 (when there were 448 children with BLL >or= 0.483 micromol/L, and the rate of lead poisoning was 23.84%). In 2003, the rates of lead poisoning among preschool children of Hangzhou, Shangyu, Zhoushan and Changshan were 7.69%, 15.37%, 10.87% and 20.15 %, respectively. There were significant differences among the four areas (P < 0.01). In comparison with the results of 1997, the lead poisoning rates of Hangzhou and Shangyu children decreased significantly, while that of Changshan children increased significantly (P <0.01), and that of Zhoushan children didn't change significantly. The highest rate of lead poisoning was found in children of 4-6 years group as 6 years ago.
CONCLUSIONThe rate of lead poisoning among preschool children has decreased significantly now in Zhejiang Province. But the condition of BLL in preschool children is still far from optimistic. The environmental lead pollution in remote mountain areas and island areas should be highly concerned by the government.
Child ; Child, Preschool ; China ; epidemiology ; Environmental Exposure ; analysis ; prevention & control ; Female ; Humans ; Incidence ; Infant ; Lead ; blood ; Lead Poisoning ; blood ; epidemiology ; Male ; Mass Screening
4.Mechanism for apoptosis of hippocampus neuron induced by hypothyroidism in perinatal rats.
Xin-wen HUANG ; Ru-lai YANG ; Zheng-yan ZHAO ; Chai JI ; Rong-wang YANG
Journal of Zhejiang University. Medical sciences 2005;34(4):298-303
OBJECTIVETo investigate the mechanism for the apoptosis of hippocampus neuron induced by hypothyroidism in perinatal rats.
METHODSHypothyroidism was induced by administration of propylthiouracil (PTU, 50 mg/d) solution to the dams from gestational day 15 by gavage. Pups from both hypothyroid and control groups were harvested at 1, 5, 10 and 15d, respectively. Blood samples were collected at the time of death for the determination of thyroid hormone. Serum free triiodothyronine (FT(3)) and free thyroxine (FT(4)) were measured by chemoluminescence. Hippocampus specimens were collected from the control and hypothyroid pups.Mitochondia was examined under transmission electron microscopy. Translocation of apoptogenic molecules (Bax, cytochrome C and AIF) and activation of caspase-3 were analyzed by Western Blotting.
RESULTSignificantly low circulating FT(3) and FT(4) levels confirmed the hypothyroid status of the experimental pups. Electron microscopy showed that altered morphology of mitochondria significantly increased under hypothyroid conditions. The expression of Bax in the cytosol of hypothyroid pups was higher than that of control pups at all stages of development (P<0.05),and significantly higher in mitochondria (P<0.001). The expression of cytochrome c in the cytosol of hypothyroid pups was significantly higher than that of control pups at all stages of development (1,10 and 15 d:P<0.05, 5d: P<0.001), and lower in mitochondria (P<0.05). The expression of AIF in the cytosol of hypothyroid pups was higher than that of control pups at all stages of development (P<0.001), and significantly lower in mitochondria (1, 5d: P<0.001, 10, 15 d: P<0.01). he expression of caspase-3 P20 in the cytosol of hypothyroid pups was significantly higher as compared with that of the age-matched controls (1, 15d: P<0.01, 5,1 0 d: P<0.001).
CONCLUSIONThe intrinsic death pathway in mitochondria may be one of the mechanisms with which hypothyroid induces apoptosis of hippocampus neuron in developing rats.
Animals ; Animals, Newborn ; Apoptosis ; physiology ; Female ; Hippocampus ; pathology ; Hypothyroidism ; chemically induced ; pathology ; Neurons ; pathology ; Pregnancy ; Pregnancy Complications ; pathology ; Propylthiouracil ; Rats ; Rats, Wistar
5.Newborn screening in Zhejiang, China.
Riziwanguli MAITUSONG ; Rukeya JAPAER ; Zheng-yan ZHAO ; Ru-lai YANG ; Xiao-lei HUANG ; Hua-qing MAO
Chinese Medical Journal 2012;125(4):702-704
BACKGROUNDIt has been 11 years since newborn screening started in Zhejiang in 1999. The aim of this study was to analyze and summarize the status of newborn screening in Zhejiang from 1999 to 2009.
METHODSBlood samples were collected from the heels of newborns 72 hours after birth. We have conducted laboratory tests that the congenital hypothyroidism (CH) and circulating levels of thyroid-stimulating hormone (TSH) was detected. Blood phenylalanine (Phe) was detected for phenylketonuria (PKU). Dissociation-enhanced lanthanide fluorescent immunoassay (DELFIA) was used for detection.
RESULTSFrom 1999 to 2009, 3 875 228 newborns were screened and 2309 cases were confirmed as CH and 155 cases were confirmed as PKU. The incidence of CH and PKU were 1:1678 and 1:25 001 respectively.
CONCLUSIONIn 11 years, the Zhejiang newborn screening center screened more than 3.8 million newborns, and helped more than 2000 CH and PKU patients to obtain early treatment in order to prevent physical disability and mental retardation.
China ; Congenital Hypothyroidism ; diagnosis ; Humans ; Infant, Newborn ; Neonatal Screening ; methods ; Phenylketonurias ; diagnosis
6.Treatment and follow-up of children with transient congenital hypothyroidism.
Ru-lai YANG ; Zhi-wei ZHU ; Xue-lian ZHOU ; Zheng-yan ZHAO
Journal of Zhejiang University. Science. B 2005;6(12):1206-1209
OBJECTIVETo study the clinical therapy and prognosis in children with transient congenital hypothyroidism (CH).
METHODSFifty-seven children with CH diagnosed after neonatal screening were treated with low-dosage levothyroxine (L-T4). Follow-up evaluation included the determination of TT3, TT4 and TSH serum levels and the assessment of thyroid gland morphology, bone age, growth development and development quotients (DQ). A full check-up was performed at age 2, when the affected children first discontinued the L-T4 treatment for 1 month, and one year later. Development quotients were compared with a control group of 29 healthy peers.
RESULTSThe initial L-T4 dosage administered was 3.21-5.81 microg/(kg.d) with an average of (16.25+/-3.87) microg/d. Mean duration of therapy was (28.09+/-9.56) months. No significant difference was found between study group and control group in the DQ test (average score (106.58+/-14.40) vs (102.4+/-8.6), P>0.05) and 96.49% of the CH children achieved a test score above 85. Bone age, 99mTc scans and ultrasonographic findings were all normal, and evaluation of physical development was normal too, as were the serum levels of TT3, TT4 and TSH after one year of follow-up.
CONCLUSIONA L-T4 dosage of 3.21-5.81 microg/(kg.d) was found sufficient for the treatment of transient CH. The treated children showed satisfactory overall mental and physical development at age 2. So it is possible for CH children to stop taking medicine if their laboratory findings and physical development are all normal after regular treatment and 2-3 years of follow-up.
Bone Development ; drug effects ; Female ; Follow-Up Studies ; Humans ; Hyperthyroidism ; blood ; congenital ; diagnosis ; drug therapy ; Infant ; Infant, Newborn ; Male ; Prognosis ; Thyroid Gland ; drug effects ; Thyroxine ; therapeutic use ; Time Factors ; Treatment Outcome ; Triiodothyronine ; blood
7.Correlation of congenital hypothyroidism with birth weight and gestational age in newborn infants.
Hua-qing MAO ; Ru-lai YANG ; Zhao-hui LIU
Journal of Zhejiang University. Medical sciences 2007;36(4):378-381
OBJECTIVETo investigate the correlation of congenital hypothyroidism (CH) with birth weight and gestational age in newborn infants.
METHODSThe screening of CH was conducted in all the live births in 2005 of Zhejiang Province, the blood samples were collected from heel stick. The thyroid stimulating hormone (TSH) was measured by time-resolved fluorescence immunoassay (TRFIA). If TSH was>9.0 mU/L, the infant was recalled for further examination.
RESULTSA total of 387,926 infants were screened in 2005, of whom 289 cases were identified with CH. The prevalence rate was 1/1,342. Among the 289 CH cases, the prevalence of premature infants, term infants and post term infants were 1/1,454, 1/1,469 and 1/246, respectively. The CH prevalence of post term infants was significantly higher than that in other two groups (P<0.01). The prevalence of low birth weight infants, normal weight infants and macrosomia was 1/575, 1/1,505 and 1/473, respectively. The prevalence of low birth weight infants and macrosomia was significantly higher than that of normal weight group (P<0.01).
CONCLUSIONThe prevalence of CH is associated with the birth weight and gestational age. To reduce the prevalence of CH in children, it is crucial to prevent post term, low birth weight, and macrosomia cases.
Birth Weight ; China ; epidemiology ; Congenital Hypothyroidism ; blood ; epidemiology ; physiopathology ; Female ; Gestational Age ; Humans ; Infant, Newborn ; Male ; Neonatal Screening ; Prevalence ; Thyrotropin ; blood
8.The under-five mortality rate and the causes of death in Zhejiang Province between 2000 and 2009.
Yan-Hua XU ; Xin-Wen HUANG ; Ru-Lai YANG
Chinese Journal of Contemporary Pediatrics 2011;13(7):561-564
OBJECTIVETo study the under-five mortality rate and the causes of death in Zhejiang Province between 2000 and 2009 in order to provide a basis for reducing the mortality rate in the region.
METHODSBy stratified random cluster sampling, all the children under 5 years old from 30 sampling areas of Zhejiang Province between 2000 and 2009 were enrolled. The under-five mortality rate and the leading causes of death were investigated by descriptive analysis and Chi-square test.
RESULTSThe under-five mortality rate demonstrated a decreased trend in Zhejiang Province between 2000 and 2009, with the under-five mortality rate of 14.83‰ in 2000 compared to 9.49‰ in 2009. In 2009, the under-five mortality rate in rural regions was significantly higher than that in urban regions (9.14‰ vs 6.50‰; P<0.01). Compared with the resident population, there were an increased under-five mortality rate in floating population (12.12‰ vs 6.42‰; P<0.01). Preterm delivery/low birth weight was the top death cause in children under 5 years old. The top three causes of death in infants less than 1 year old were preterm delivery/low birth weight, congenital heart disease and birth asphyxia compared to drowning, traffic accident and falling in children aged 1-4 years.
CONCLUSIONSThere are differences in the under-five mortality rate between rural and urban children as well as between the floating and resident population in 2009. The leading causes of death in different age groups are different. It is essential to reduce the mortality rate by preventing preterm delivery, low birth weight and congenital malformations to infants and preventing accidental injuries to children aged 1-4 years.
Cause of Death ; Child Mortality ; Child, Preschool ; China ; epidemiology ; Humans ; Infant ; Infant Mortality ; Infant, Newborn ; Time Factors
9.Study on the neurotoxic effects of low-level lead exposure in rats.
Zhi-wei ZHU ; Ru-lai YANG ; Gui-juan DONG ; Zheng-yan ZHAO
Journal of Zhejiang University. Science. B 2005;6(7):686-692
OBJECTIVETo investigate effects of developmental lead exposure on nitric oxide synthase (NOS) activity in different brain regions and on N-methyl-D-aspartate (NMDA) receptor mRNA expression in the hippocampus of rats. On the basis of these observations, we explored possible mechanisms by which lead exposure leads to impaired learning and memorizing abilities in children.
METHODSA series of rat animal models exposed to low levels of lead during the developing period was established (drinking water containing 0.025%, 0.05% and 0.075% lead acetate). NOS activities in the hippocampus, the cerebral cortex, the cerebellum and the brain stem were determined with fluorescence measurement and levels of mRNA expression of the NMDA receptor 2A (NR2A) subunit and NMDA receptor 2B (NR2B) subunit in the rat hippocampus were measured with Retro-translation (RT-PCR).
RESULTSThere were no differences in the body weight of rat pups between any of the groups at any given time (P>0.05). The blood lead level of Pb-exposed rat pups showed a systematic pattern of change: at 14 d of age, it was lower than that at 7 d of age, then rising to the peak level at 21 d and finally falling to lower levels at 28 d. The hippocampal NOS activities of lead-exposed groups were all lower than that of the control group on the 21st and 28th day (P<0.01). NOS activities in the cerebellum of lead-exposed groups were all lower than that of the control group on the 21st and 28th day (P<0.001) and the NOS activity of the 0.025% group was significantly lower than that of the 0.05% and 0.075% groups on the 28th day (P<0.05). NOS activity in the cerebral cortex of the 0.075% group was significantly lower than that of the control, 0.025% and 0.05% groups on the four day spans (P<0.001). There was no significant difference of NOS activity in the brain stem between any lead-exposed group and the control group on the four day spans. In the 0.05% and the 0.075% groups, the level of NR2A mRNA expression was higher than that in the control group at 7 d and 14 d of age (P<0.05). In the 0.025% group, the level of NR2A was found to be higher than that in the control group at 7 d of age only (P<0.05). No significant differences were found for the levels of NR2B mRNA expression between any of the groups at any given time.
CONCLUSIONSNOS activity in the hippocampus, the cerebral cortex and the cerebellum are inhibited by lead exposure. The degree of the inhibitory effect depends on the time span of exposure and the lead concentration. Developmental low-level lead exposure was found to raise the level of NR2A mRNA expression in the hippocampus of rats. Developmental low-level lead exposure does not affect the level of NR2B mRNA expression in the hippocampus.
Animals ; Animals, Newborn ; Brain ; drug effects ; growth & development ; metabolism ; Environmental Exposure ; adverse effects ; Enzyme Activation ; drug effects ; Female ; Lead ; toxicity ; Male ; Neurotoxins ; toxicity ; Nitric Oxide Synthase ; metabolism ; Rats ; Receptors, N-Methyl-D-Aspartate ; metabolism
10.Determining the primary site of metastatic adenocarcinoma in serous fluid: a cytological study.
Fang FANG ; Li YANG ; Xi-lai SU ; Qing HE ; Dong-ge LIU ; Feng-ru LIN ; Zheng-zhong MA
Chinese Journal of Pathology 2005;34(10):641-645
OBJECTIVETo explore cytological parameters that may identify the primary sites of metastatic adenocarcinomas in serous fluid.
METHODSSerous fluid specimens from 89 cases of metastatic adenocarcinomas (40 metastatic adenocarcinomas of lung, 6 metastatic adenocarcinomas of breast, 21 metastatic ovary adenocarcinomas, 22 metastatic gastrointestinal and pancreatic adenocarcinomas) were studied by using multiple morphologic parameters. Immunocytochemical S-P method was used to detect the expression of CA125, CA199, SPB and TTF-1 in 75 cases.
RESULTSMetastatic adenocarcinomas of different primary sites displayed certain different morphologic features, including the total amount of tumor cells, size of clusters, ratio of clusters over single cells, configuration of tumor clusters and the background of the smear. Cell clusters of small to medium sizes represented 95% and 100% in the metastatic adenocarcinomas of lung and breast, respectively. Most of the ovarian metastatic adenocarcinomas (85.7%) presented some large cell clusters and larger amount of cells, whereas certain metastatic gastrointestinal and pancreatic adenocarcinomas (45.5%) presented smaller number of cells and predominantly to be single cell in distribution (40.9%). Psammoma bodies were found in metastatic adenocarcinomas of lung and ovary. SPB and TTF-1 expression supported the diagnosis of adenocarcinoma of pulmonary origin. CA125 expression supported an ovarian origin. Although CA199 was seen in all groups of metastatic adenocarcinomas, nevertheless, its appearance in tumor cells in ascitic fluid specimens supported gastrointestinal and pancreatic origins.
CONCLUSIONMorpho-logic features of the cytological smear, immunohistochemical staining and clinical history are equally important in determining the primary sites of metastatic adenocarcinomas in serous fluid.
Adenocarcinoma ; metabolism ; secondary ; Ascitic Fluid ; metabolism ; pathology ; Breast Neoplasms ; metabolism ; pathology ; Colonic Neoplasms ; metabolism ; pathology ; Female ; Humans ; Lung Neoplasms ; metabolism ; pathology ; Male ; Nuclear Proteins ; metabolism ; Ovarian Neoplasms ; metabolism ; pathology ; Pancreatic Neoplasms ; metabolism ; pathology ; Pleural Effusion, Malignant ; metabolism ; pathology ; Proteins ; metabolism ; Stomach Neoplasms ; metabolism ; pathology ; Thyroid Nuclear Factor 1 ; Transcription Factors ; metabolism