4.Cornelia de Lange syndrome: report of a case and the review of literature on 17 cases.
Ming-yan HEI ; Jia CHEN ; Ling-qian WU ; Bo YU ; Yan-juan TAN ; Ling-ling ZHAO
Chinese Journal of Pediatrics 2012;50(8):606-611
OBJECTIVETo explore the clinical characteristics of Cornelia de Lange Syndrome (CdLS) and to review the latest clinical research reports.
METHODClinical and laboratory data of one case of neonatal CdLS are reported, and literature on 17 cases of CdLS in China and the international reports of the clinical and molecular biological research on this disease were reviewed.
RESULT(1) The patient was an infant with intrauterine growth retardation and born as a term small for gestational age infant with specific facial features, bone abnormality of extremities, and patent ductus arteriosus (PDA). She also had severe feeding difficulty and slow weight gain. She was followed up till 4 months of age and showed severe developmental retardation. (2) The total number of past reported case of CdLS in China was 17 with a male to female ratio of 6:12. The average age of diagnosis was 17 months. The following specific facial features could be observed: synophrys, long and curved eyelashes, hirsutism, microcephalus, low hairline, broad depressed nasal bridge, long prominent philtrum, and high palate. Most of the patients were complicated with mental retardation, recurrent vomiting or feeding difficulty, abnormal muscle tone, cutis marmorata, hypophalangism, and genitalia anomaly. Clinical manifestations of Chinese patients were similar to those of the overseas reports. The karyotype of 15 cases was investigated and was normal. The etiology of CdLS is unknown. There is no specific treatment. The commonest causes of death are lung diseases caused by gastroesophageal reflex/aspirate related pneumonia.
CONCLUSIONTypical clinical manifestations of CdLS are specific facial features (mainly synophrys, long and curved eyelashes, long prominent philtrum), complications of multi-system malformations (mainly growth and developmental retardation, esophagogastric reflex, hypophalangism), related gene mutations occurred in NIPBL, SMC1A, and SMC3 gene.
Abnormalities, Multiple ; diagnosis ; genetics ; pathology ; Cause of Death ; Child ; Child, Preschool ; Craniofacial Abnormalities ; diagnosis ; genetics ; pathology ; De Lange Syndrome ; diagnosis ; genetics ; pathology ; Ductus Arteriosus, Patent ; etiology ; Female ; Genetic Testing ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability ; etiology ; Magnetic Resonance Imaging ; Male ; Mutation ; Proteins ; genetics ; Severity of Illness Index
5.Expression of NMDA receptor-1 induced by NMDA in the brain of neonatal SD rats.
Ming-yan HEI ; Ying LI ; Pik-to CHEUNG
Journal of Central South University(Medical Sciences) 2006;31(1):52-69
OBJECTIVE:
To determine the regulation of the expression of NMDA receptor-1 induced by NMDA in the brain of neonatal SD rats.
METHODS:
Neonatal SD rats (n=90) were randomly divided into normal control (n=6) and NMDA injected group (subdivided into 10 nmol-0 min, 15 min, 30 min, 1 h, 2 h, 4 h groups, and 10, 20, 50 nmol groups, each n=6). NMDA fluorescent inmmunohistological staining and TTC (2,3,5-triphenyltetrazoliun chloride) staining techniques were used.
RESULTS:
At 30 min after the injection of 10 nmol NMDA, a few NR1 positive cells could be observed along the injection tract. At 1 h after the injection, NR1 positive cells in large quantity could be observed in the hippocampal CA1 region and paraventricular thalamus of the ipsilateral hemisphere. The number and location of positive cells at 2 h and 4 h after the injection were not much different from that at 1 h after the injection. At 2 h after injection, stronger NR1 expression was observed in the 50 nmol injection group. In addition, slight crinkle of the cell wall with mild condensation of the nuclei was also observed in the 50 nmol injection group. At 2 h after the injection, no abnormality was observed in 10, 20, or 50 nmol group after TTC staining.
CONCLUSION
The NR1 induced by NMDA is expressed in a time-dependent and dose-dependent pattern after a short period of "delay", providing a possible "therapeutic window" for using NMDA receptor antagonist to treat diseases relating to the NMDA receptor activation.
Animals
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Animals, Newborn
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Brain
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metabolism
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Dose-Response Relationship, Drug
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Mice
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N-Methylaspartate
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pharmacology
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Random Allocation
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Rats
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Rats, Sprague-Dawley
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Receptors, N-Methyl-D-Aspartate
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biosynthesis
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Time Factors
6.Impact of dopamine receptor modulation on reduced anxiety-like behavior in neonatal rats after hypoxic-ischemic brain damage.
Hui-Kang TAO ; Qin TANG ; Jin-Jin DAI ; Yuan-Yuan LI ; Ming-Yan HEI
Chinese Journal of Contemporary Pediatrics 2014;16(10):1045-1050
OBJECTIVETo observe the long-term changes in anxiety-like behavior and tyrosine hydroxylase (TH) expression in the substantia nigra (SN) after hypoxic-ischemic brain damage (HIBD) in a neonatal rat model and to further explore the relationship between dopamine (DA) level and long-term anxiety-like behavior using the DA receptor (DAR) antagonist.
METHODSSeven-day-old (P7) neonatal Sprague-Dawley (SD) rats were randomized into normal control, sham-operated, HIBD and HIBD+DAR antagonist groups. HIBD model was prepared by ligating the right common carotid artery and 8% hypoxia exposure. The rats in the sham-operated group were sham-operated and were not subjected to right common carotid artery ligation and hypoxia exposure. The DAR antagonist was injected intraperitoneally before and after inducing HIBD. The same amount of normal saline was given to the other three groups as a control. Anxiety-like behavior was evaluated by elevated plus maze test, and TH expression in the SN was measured by immunohistochemistry on P14, P21, and P28.
RESULTSOn P21 and P28, the time spent in the open arms and the percentage of open arms entries in the HIBD group were significantly increased compared with those in the normal control, sham-operated and HIBD+DAR antagonist groups (P<0.05); in addition, the HIBD+DAR antagonist group showed a significantly longer time spent in the open arms than the normal control group (P<0.05). On P14, P21, and P28, TH expression in the HIBD and HIBD+DAR antagonist groups was significantly lower than that in the normal control and sham-operated groups, and TH level in the HIBD group was significantly lower than that in the HIBD+DAR antagonist group (P<0.05).
CONCLUSIONSDAR antagonist allows the restoration of anxiety-like behavior and alleviates the damage to dopaminergic neurons in SD rats after HIBD.
Animals ; Animals, Newborn ; Anxiety ; etiology ; prevention & control ; Dopamine Antagonists ; therapeutic use ; Hypoxia-Ischemia, Brain ; complications ; Maze Learning ; Rats ; Rats, Sprague-Dawley ; Receptors, Dopamine ; physiology ; Substantia Nigra ; enzymology ; Tyrosine 3-Monooxygenase ; analysis
7.Effects of inosine on neuronal apoptosis and the expression of cytochrome C mRNA following hypoxic-ischemic brain damage in neonatal rats.
Yong-Hong DENG ; Shou-Jin KUANG ; Ming-Yan HEI ; Lang TIAN
Chinese Journal of Contemporary Pediatrics 2006;8(4):266-271
OBJECTIVEIt has been reported that neuronal apoptosis plays a critical role in pathology of hypoxic-ischemic encephalopathy (HIE). Cytochrome C (CytC) is an important apoptotic protease activating factor. Inosine might have a neuroprotective effect against cerebral ischemia reperfusion injury by inhibiting the neuronal apoptosis and the expression of CytC mRNA in adult rats. This study examined the effects of inosine on neuronal apoptosis and CytC mRNA expression following hypoxic-ischemic brain damage (HIBD) in order to investigate the neuroprotectivity of inosine against cerebral ischemia injury in neonatal rats and the possible mechanism.
METHODSA total of 140 healthy 7-day-old Sprague-Dawley rat pups were randomly assigned into Control (n=40), HIBD (n=50) and Inosine treatment groups (n=50). HIBD rat models were established by ligating the left common carotid artery, followed by 8% O2 hypoxia exposure for 2 hrs in the HIBD and Inosine treatment groups. The Control group was not subjected to hypoxia-ischemia (HI). The Inosine treatment and the HIBD groups were randomly divided into 5 sub-groups sacrificed at 6 and 12 hrs, and 1, 3 and 7 days post- HI (n=10 each). The Control group rats were sacrificed at the corresponding time points (n=8 each). Inosine was administered to the Inosine treatment group by intraperitoneal injection immediately after HIBD at the dosage of 100 mg/kg twice daily for 7 days. TUNEL staining and in situ hybridization method was used to detect neuronal apoptosis and CytC mRNA expression respectively.
RESULTSFew apoptotic cells and CytC mRNA positive cells were found in brain tissues of the Control group. In the HIBD group, the number of apoptotic cells and the CytC mRNA expression in the cortical and hippocampal gyrum CA1 areas increased 6 hrs after HI, peaking at 1 day after HI and then decreased gradually. Until the 7th day, the number of apoptotic cells and the CytC mRNA expression in the cortical and hippocampal gyrum CA1 areas in the HIBD group remained significantly higher than in the Control group. Inosine treatment decreased the apoptotic cells and the CytC mRNA expression in both areas from 6 hrs to 7 days after HI compared with the HIBD group. The linear correlation analysis demonstrated that the number of apoptotic cells was positively correlated to the CytC mRNA expression in neonatal rats with HIBD (r=0.88, P < 0.01) .
CONCLUSIONSInosine can reduce the number of apoptotic cells and down-regulate the expression of CytC mRNA following HIBD in neonatal rats. The decreased number of apoptotic cells was positively correlated to the decreased CytC mRNA expression after inosine treatment, suggesting that inosine offered neuroprotectivity against HIBD possibly through inhibiting the CytC mRNA expression and resulting in a decrease of cell apoptosis.
Animals ; Apoptosis ; drug effects ; Cytochromes c ; genetics ; Hypoxia-Ischemia, Brain ; drug therapy ; metabolism ; pathology ; In Situ Nick-End Labeling ; Inosine ; pharmacology ; therapeutic use ; Neurons ; drug effects ; Neuroprotective Agents ; pharmacology ; RNA, Messenger ; analysis ; Rats ; Rats, Sprague-Dawley
8.Environment and congenital urinary malformations.
Chinese Journal of Contemporary Pediatrics 2014;16(4):339-344
The development of the kidneys and other organs of the urinary tract follows the natural rule of gene-environment-lifestyle interaction. Both intrinsic and extrinsic factors may be associated with the etiology of various kinds of urinary malformations, but the environmental factor is an extrinsic factor. Related literatures were reviewed in this paper, which focuses on the association of congenital urinary malformations with possible environmental factors. It is concluded that urinary malformation is associated with low birth weight, maternal disease, placental insufficiency, maternal drug exposure, and maternal exposure to environmental pesticides. Living environment and socioeconomic factors may also influence the incidence of urinary malformation.
Female
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Fetus
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drug effects
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Gene-Environment Interaction
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Humans
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Infant, Low Birth Weight
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Pesticides
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toxicity
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Placental Insufficiency
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Pregnancy
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Socioeconomic Factors
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Urinary Tract
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abnormalities
9.Effect of IGF-1 on long-term anxiety-like behavior in rats after hypoxic-ischemic brain damage.
Qin TANG ; Fu-Rong LIU ; Ya-Li LUO ; Ming-Yan HEI
Chinese Journal of Contemporary Pediatrics 2014;16(3):295-300
OBJECTIVETo observe the changes in anxiety-like behavior among rats in the recovery stage after hypoxic-ischemic brain damage (HIBD) during the perinatal period and to investigate the effect of insulin-like growth factor 1 (IGF-1) on the long-term anxiety-like behavior and its action mechanism among rats with HIBD.
METHODSNinety neonatal rats (7 days old) were randomly and equally divided into normal control, HIBD, and HIBD+IGF-1 groups. A neonatal rat model of HIBD was established by Rice method in the HIBD and HIBD+IGF-1 groups. The rats in the HIBD+IGF-1 group were intraperitoneally injected with IGF-1 (0.2 mg/kg) immediately after HIBD, and the other two groups were intraperitoneally injected with an equal volume of normal saline. The anxiety-like behavior was evaluated by elevated plus-maze test on postnatal days 21 and 28. The expression of tyrosine hydroxylase (TH) in the substantia nigra was measured by immunohistochemistry on postnatal days 14, 21, and 28.
RESULTSOn postnatal days 21 and 28, the open-arm time (OAT) and percentage of OAT for the HIBD and HIBD+IGF-1 groups were significantly lower than those for the normal control group (P<0.05), but there were no significant differences between the HIBD and HIBD+IGF-1 groups (P>0.05); the percentage of open arm entry showed no significant difference between the three groups (P>0.05). On postnatal day 14, there were no significant differences in percentage of TH immunostaining-positive area between the three groups (P>0.05). On postnatal days 21 and 28, the HIBD and HIBD+IGF-1 groups had significantly lower percentages of TH immunostaining-positive area than the normal control group (P<0.05), but there was no significant difference between the HIBD and HIBD+IGF-1 groups (P>0.05).
CONCLUSIONSHIBD in the perinatal period may cause the changes in anxiety-like behavior in adolescent rats, which may be related to decreased expression of TH in the substantia nigra. Neonatally given IGF-1 cannot improve the long-term anxiety-like behavior in rats after HIBD, and it does not affect TH expression in the substantia nigra. IGF-1 may not regulate the changes in long-term anxiety-like behavior in adolescent rats.
Animals ; Animals, Newborn ; Anxiety ; drug therapy ; Female ; Hypoxia-Ischemia, Brain ; psychology ; Immunohistochemistry ; Insulin-Like Growth Factor I ; therapeutic use ; Male ; Rats ; Rats, Sprague-Dawley ; Tyrosine 3-Monooxygenase ; analysis
10.Risk factors for neonatal pulmonary hemorrhage in the neonatal intensive care unit of a municipal hospital.
Jie FAN ; Ming-Yan HEI ; Xi-Lin HUANG ; Xiao-Ping LI
Chinese Journal of Contemporary Pediatrics 2017;19(3):346-349
OBJECTIVETo investigate the risk factors for neonatal pulmonary hemorrhage (NPH) in the neonatal intensive care unit (NICU) of a municipal hospital, and to provide a basis for the early identification and treatment of NPH.
METHODSA total of 112 neonates who were admitted to the NICU of Shaoyang Central Hospital of Hunan Province and diagnosed with NPH were enrolled as the case group. A nested case-control method was used to select, as a control group (n=224), the neonates who underwent the treatment with an assisted mechanical ventilator and did not experience pulmonary hemorrhage. Univariate analysis and unconditional logistic regression analysis were used to identify the high risk factors for NPH.
RESULTSThe univariate analysis showed that compared with the control group, the case group had significantly higher incidence rates of gestational diabetes and cholestasis in mothers, cesarean delivery, gestational age <34 weeks, 5-minute Apgar score ≤5, birth weight <2 500 g, heart failure and disseminated intravascular coagulation (DIC) before the development of NPH, partial pressure of oxygen/fraction of inspired oxygen (oxygenation index, OI) ≤100, and a reduction in mean platelet volume. The multivariate logistic regression analysis showed that DIC, heart failure, and OI ≤100 were independent risk factors for NPH (OR=33.975, 3.975, 1.818 respectively; P<0.05).
CONCLUSIONSHeart failure, OI ≤100, and DIC are risk factors for the development of NPH in the NICU of the municipal hospital.
Female ; Hemorrhage ; etiology ; Humans ; Infant, Newborn ; Intensive Care Units, Neonatal ; Logistic Models ; Lung Diseases ; etiology ; Male ; Risk Factors