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Objective:To analyze the association between the perioperative amplitude-integrated electroencephalogram(aEEG)of neonates with congenital heart disease(CHD) and their neurodevelopmental outcome at 2 years of age.Methods:Neonates with CHD ( n=32) who were admitted to the neonatal intensive care unit at our hospital were included.All patients had undergone cardiac surgery during the neonatal period and preoperative and postoperative aEEG monitoring.The background pattern, sleep-wake cycle(SWC) pattern and seizure activity (including electrographic seizure activity) were used to quantify cerebral activity related to brain function.Infants with CHD were enrolled prospectively to follow up at 2 years old.Participants were assessed at 2 years old via the Bayley Scale of Infant Development. Results:A total of 32 neonates were enrolled in the study.Compared with average of normal population, psychomotor development index(PDI) of participants decreased significantly ( P<0.05). The mental development index(MDI) of patients with abnormal behavior was significantly lower.The longer length of ICU, longer time of ventilation, and the older age of father were risk factors of lower PDI.The MDI (76.29±23.38) of cases with mild abnormal preoperative background pattern were significantly lower than that with normal background pattern (97.37±22.65)( P=0.039). The PDI (74.00±20.09) of cases with abnormal preoperative background pattern was significantly lower than that (92.12±20.42) with normal preoperative background pattern ( P=0.046). The PDI (85.04±20.384) of cases with immature preoperative SWC were significantly lower than that with the normal preoperative SWC(110.00±16.55) ( P=0.027). Conclusion:Abnormal perioperative background pattern and SWC are markers for neurodevelopment disorder.The perioperative aEEG is a useful bedside tool that helps predict outcomes in infants underwent heart surgery.
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Objective:To determine the risk factors of perioperative cerebral oxygen supply and utilization and cerebral activity in newborns with congenital heart disease(CHD).Methods:In this prospective cohort study, NIRS and amplitude integrated EEG(aEEG) performed before and after surgery were used to assess cerebral oxygen supply and utilization and cerebral activity in these newborns. Cerebral tissue oxygenation index(TOI) and fractional tissue oxygen extraction(FTOE) measured from NIRS for each patient were compared to background pattern and SWC of aEEG before and after surgery. Analysis included clinical characteristics and explore the risk factors of TOI, FTOE.Results:90 CHD newborns were obtained. Pre- and postoperative TOI were 0.56±0.05 and 0.59±0.03, both of them were lower than the average for normal newborns( P<0.05). Pre- and postoperative FTOE were 0.36±0.07 and 0.39±0.04. TOI and FTOE were significantly improved after surgery( P<0.05). There was negative correlation between the TOI improvement after surgery and SpO 2 of right upper limb( β: -0.202). Patient with Respiratory support before surgery had lower preoperative TOI levels( β: -0.879). Preoperative SpO 2 was higher, then preoperative TOI was also higher( β: 0.214). The postoperative FTOE of who had lower amplitude showed by aEEG was significantly lower( P<0.05). The postoperative TOI of who had immature SWC was lower than mature SWC( P<0.05). Delayed chest closure was a risk factor for postoperative death. Conclusion:TOI in children with CHD improved significantly after operative, especially in patient with cyanosis CHD. Preoperative TOI is positively related to SpO 2. It’s positive correlation between cerebral activity and cerebral oxygen utilization. The patient who has immature SWC showed lower cerebral oxygen supply. Monitoring cerebral activity and oxygenation may be useful in perioperative management and cerebral protection of newborns with CHD.
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Objective: To analyze the current status of clinical treatment and factors influencing postoperative mortality in infants with critical congenital heart disease (CCHD) in China, optimize the perioperative management of CCHD, and provide a new scientific basis for clinical decision-making for the optimal management of these patients. Methods: This is a retrospective single-center study. Infants diagnosed with CCHD in Guangdong Provincial People's Hospital from January 2017 to December 2019 (aged 0-1 years at admission) were enrolled. General clinical information, inpatient treatment information, prognosis and complications were collected and analyzed. Multivariate logistic regression analysis was used to explore the independent risk factors of postoperative death in infants with CCHD. Results: A total of 826 infants with CCHD were included, including 556 males (67.3%) and the age at first admission was 51.0 (5.0,178.3) days. 264 (32.0%) cases were tetralogy of Fallot and 137 (16.6%) cases were total anomalous pulmonary venous return. 195 cases (23.6%) were diagnosed prenatally. 196 cases (23.7%) were treated with prostaglandin. The preoperative invasive ventilation time was 0 (0, 0) hour, and the postoperative invasive ventilation time was 95.0 (26.0, 151.8) hours. A total of 668 cases (80.9%) underwent surgical treatment. The age was 100.5 (20.0, 218.0) days during operation and the operation time was 190.0 (155.0, 240.0) hours. Sixty-two cases (7.5%) received medical treatment, and 96 cases (11.6%) gave up treatment. A total of 675 cases (81.7%) were discharged with improvement, 96 cases (11.6%) were discharged after giving up treatment, 55 cases (6.7%) died and 109 cases (13.2%) were readmitted within one year. Complications occurred in 565 (68.6%) cases, including pneumonia in 334 cases (40.4%) and cardiac arrhythmias in 182 cases (22.0%). Multifactorial analysis showed that delayed chest closure (OR=49.775, 95%CI 3.291-752.922, P=0.005), prolonged post-operative invasive ventilator ventilation (OR=1.003, 95%CI 1.000-1.005, P=0.038) and cardiac hypoplasia syndrome (OR=272.658, 95%CI 37.861-1 963.589, P<0.001) were the independent risk factors for mortality in CCHD infants post-operation. Conclusions: Tetralogy of Fallot and total anomalous pulmonary venous return account for the majority of infants with CCHD. The proportion of infants diagnosed prenatally was less than 1/4. The majority CCHD infants received surgical treatment. The main complications are pneumonia and arrhythmia. Delayed chest closure, prolonged postoperative invasive ventilator ventilation and low cardiac output syndrome are the independent risk factors for postoperative death in infants with CCHD.
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Humans , Infant , Male , China/epidemiology , Heart Defects, Congenital/therapy , Hospitalization , Prognosis , Retrospective Studies , Risk FactorsABSTRACT
Objective: To identify the factors influencing brain injury in infants with congenital heartdisease (CHD) after cardiac surgery. Methods: This retrospective study investigated 103infants with CHD undergoing cardiac surgery between January 2013 and February 2016.Pre- and postoperative amplitude-integrated electroencephalography (aEEG) recordingswere assessed for background pattern, sleep-wake cycle pattern and seizure activity.Logistic regression model was used to determine the influencing factors of brain injury.Results: Pre-operatively, most infants in our study exhibited a normal background pattern,with 16.5% showing discontinuous normal voltage, whereas this pattern was observed inonly 7.8% of infants postoperatively. The improvement in background pattern after surgerywas significant (P<0.05) in infants at no more than 39 weeks of gestational age. Infants withpostoperative sepsis or severe postoperative infection were prone to show a worse sleep-wake cycle pattern after heart surgery. Conclusion: The improvement in brain function ofinfants with CHD after cardiac surgery was associated with the gestational age andpostoperative infection
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OBJECTIVE@#To explore the genetic etiology of a child with autism, mental retardation and epilepsy.@*METHODS@#Conventional G-banding chromosomal analysis was carried out. Chromosomal variation was also detected by single nucleotide polymorphism microarray (SNP array). Pathogenic mutations were screened by high-throughput sequencing and validated by Sanger sequencing. Pathologic significance of the candidate mutations was analyzed through search of database and literature review.@*RESULTS@#No karyotypic abnormality was found with the child and his parents, while SNP array has detected a 460 kb deletion in the 14q11.2 region in the child. High-throughput and Sanger sequencing revealed a novel mutation of the NALCN gene in the child, in addition with a hemizygous mutation of the COL4A5 gene in the child and his mother.@*CONCLUSION@#The 14q11.2 microdeletion and NALCN mutation may contribute to the autism, mental retardation and epilepsy in this child.
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Objective@#To analyze the neurodevelopmental outcome and its risk factors in infants with CHD at 18 months of age.@*Methods@#Eighteen-month-old infants with CHD at the follow-up clinic of our hospital were selected. The Bayley scales of infant development(BSID) were used to evaluate the levels of mental development(MDI) and psychomotor development(PDI). The clinical features during hospitalization were reviewed, and the risk factors of MDI and PDI were analyzed.@*Results@#A total of 116 children with CHD underwent BSID evaluation at 18 months of age. Both the MDI(95.38±22.98) and PDI(87.84±22.57) of the cohort were significantly lower than the average value of the normal population(P<0.05). In infants with cyanotic CHD, the MDI was higher(β=17.218). The longer the length was of the hospital stay, the lower the PDI(β=-0.577). In patients undergoing cardiopulmonary bypass surgery, the PDI was higher(β=11.956). Compared to infants with relatively normal behavior, the PDI of infants with mild behavioral problems was lower(β=-10.605).@*Conclusion@#Children with CHD who underwent cardiac surgery have delayed neurodevelopmental outcomes compared with those of healthy children. The outcomes of infants with cyanotic CHD or undergoing cardiopulmonary bypass surgery was better than others. Long hospital stays and mild behavioral problems were risk factors for poor neurodevelopmental outcomes.
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Objective To analyze the neurodevelopmental outcome and its risk factors in infants with CHD at 18 months of age. Methods Eighteen-month-old infants with CHD at the follow-up clinic of our hospital were selected. The Bayley scales of infant development( BSID) were used to evaluate the levels of mental development( MDI) and psychomotor develop-ment( PDI) . The clinical features during hospitalization were reviewed, and the risk factors of MDI and PDI were analyzed. Results A total of 116 children with CHD underwent BSID evaluation at 18 months of age. Both the MDI(95. 38 ± 22. 98) and PDI(87.84 ±22.57) of the cohort were significantly lower than the average value of the normal population(P<0.05). In infants with cyanotic CHD, the MDI was higher(β=17. 218). The longer the length was of the hospital stay, the lower the PDI (β= -0. 577). In patients undergoing cardiopulmonary bypass surgery, the PDI was higher(β=11. 956). Compared to in-fants with relatively normal behavior, the PDI of infants with mild behavioral problems was lower(β=-10. 605). Conclusion Children with CHD who underwent cardiac surgery have delayed neurodevelopmental outcomes compared with those of healthy children. The outcomes of infants with cyanotic CHD or undergoing cardiopulmonary bypass surgery was better than others. Long hospital stays and mild behavioral problems were risk factors for poor neurodevelopmental outcomes.
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Congenital heart disease is the most common congenital malformation. Neurodevelopmental disorder is one of the important complications of congenital heart disease. The mechanism of brain injury in CHD children is the result of complex interactions of individual factors and environmental effects,including different cardiac malformations,the effects of various interventions, such as cardiac surgery and perioperative care. Al-though preoperative,intraoperative and postoperative cerebral ischemia are known for the main mechanism of complex first-brain injury,the factors during hospitalization and after discharge may be part of reason of neuro-logical dysfunction in children with CHD. These factors can be roughly divided into three categories according to the stage:prenatal,perioperative and after. discharge. In fact,the correlation of these three factors is difficult to distinguish in the same patient. A better understanding of the pathogenesis of brain injury in children with con-genital heart disease is of positive significance for the improvement of long-term prognosis. This article reviews the mechanism and etiology of brain injury in children with congenital heart disease.
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Objective To evaluate the safety of two types of enterovirus 71(EV71) inactivated vaccine (Vero cell vs. Human Diploid cell) after inoculation. Methods Subjects were children vaccinated EV71 vaccine between November 2016 and May 2017 at vaccination clinics in Xiacheng District. According to the type of EV71 vaccine, subjects were divided into the Vero Cell group and the Human Diploid Cell group. The adverse effects were collected after 30 min, 3 days and 30 days of injection, respectively. Results A total of 3158 vaccinated children were observed, with 1529 in Vero Cell group and 1629 in Human Diploid Cell group. The rates of adverse effects were 0.59％ (9 cases) of Vero cell group and 0.55 ％ (9cases) of Human Diploid Cell group. All of the adverse effects were systemic reactions such as fever, diarrhea and vomiting. No significant differences were observed between the two groups above in the incidence and severity of adverse effects(P >0.05) . The incidence and severity of adverse effects of the first dose were significantly higher than the second dose in two groups (P<0.05) . Conclusion EV71 vaccine was safe to vaccinate, and no statistical difference in the adverse effects was found between the two types of vaccine.
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Objectlve To explore the correlation between amplitude-integrated electroencephalographic(aEEG) findings and clinical features and to investigate the status of perioperative brain function in infants with critical congenital heart disease (CCHD) and its influencing factors.Methods Newborns and infants with critical CHD who were admitted to the NICU at our hospital were included.Postoperative aEEG was continuously monitored and analyzed,and its correlation with clinical conditions was compared.Results A total of 226 patients were enrolled.Of the 226 patients who underwent postoperative aEEG monitoring,approximately 5.8％ showed mild abnormal background patterns,0.9％ showed severe abnormalities,27.4％ demonstrated an immature SWC,and 3.5％ lacked SWC.The patients who had a history of hypoxia at birth exhibited delayed sternal closure or showed severe postoperative neurological symptoms and had higher probabilities of postoperative SWC abnormalities.Several infants,all with complex CHD,had postoperative seizures.Conclusion Gestational age and oxygen deficiency at birth were the risk factors of brain injury.Delayed sternal closure,severe postoperative infection,and postoperative neurological symptoms were risk factors for postoperative brain injury.Postoperative nervous system monitoring and prevention postoperative severe infection may obviously improve the brain function of neonates and small infants with critical congenital heart disease.
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Objective:To explore and analyze the points-selection rules in acupuncture treatment of mammary gland hyperplasia (MGH) by data mining and statistical method. Methods:Clinical literatures about the treatment of MGH with acupuncture published in the recent 16 years were retrieved from Chinese Journal Full-text Database (CJFD) and established into a database by Excel. The SPSS 20 version software and Clementine 12.0 version software were adopted to analyze the frequency and association rules of points-selection in the treatment of MGH with acupuncture. Results:The top 3 points used most frequently in acupuncture treatment of MGH were Danzhong (CV 17), Taichong (LR 3) and Zusanli (ST 36); points from the Stomach Meridian of Foot Yangming and Liver Meridian of Foot Jueyin were most commonly used; the commonly selected points were predominantly distributed in thoracic and abdominal regions and lower limbs; emphasis on the combination use of local and distal points; of the specific points, the five Shu-Transmitting points were mostly used; association analysis showed that the associations among Taichong (LR 3), Danzhong (CV 17) and Zusanli (ST 36) were the most significant. Conclusion: The data mining results substantially accord with the general rules of acupuncture-moxibustion theories in traditional Chinese medicine, able to reflect the points-selection principles and features in acupuncture treatment of MGH and provide evidence for the points selection in the treatment of MGH in acupuncture clinic.
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Objective:To explore and analyze the points-selection rules in acupuncture treatment of mammary gland hyperplasia (MGH) by data mining and statistical method. Methods:Clinical literatures about the treatment of MGH with acupuncture published in the recent 16 years were retrieved from Chinese Journal Full-text Database (CJFD) and established into a database by Excel. The SPSS 20 version software and Clementine 12.0 version software were adopted to analyze the frequency and association rules of points-selection in the treatment of MGH with acupuncture. Results:The top 3 points used most frequently in acupuncture treatment of MGH were Danzhong (CV 17), Taichong (LR 3) and Zusanli (ST 36); points from the Stomach Meridian of Foot Yangming and Liver Meridian of Foot Jueyin were most commonly used; the commonly selected points were predominantly distributed in thoracic and abdominal regions and lower limbs; emphasis on the combination use of local and distal points; of the specific points, the five Shu-Transmitting points were mostly used; association analysis showed that the associations among Taichong (LR 3), Danzhong (CV 17) and Zusanli (ST 36) were the most significant. Conclusion: The data mining results substantially accord with the general rules of acupuncture-moxibustion theories in traditional Chinese medicine, able to reflect the points-selection principles and features in acupuncture treatment of MGH and provide evidence for the points selection in the treatment of MGH in acupuncture clinic.
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Objective To determine the long term outcomes of laryngomalacia infants with anomalies and to determine the clinical practice guideline for these infants.Methods The charts of infants with moderate to severe laryngomalacia,who were admitted to our hospital between January 2013 and December 2015,were retrospectively reviewed.These infants were divided into two groups,anomaly(A) group(n=37) and non-anomaly (NA) group(n=19).Results Fifty-six cases were enrolled.Infants in A group were older at symptom relief than those in NA group[(10.00±3.56) months vs.(7.89±3.03) months,P＜0.05],and the weight percentiles of infants in A group were lower at 3,6 and 12 months than those in NA group(P＜0.05).There was no statistically significant difference between the two groups on the weights percentiles in infants at 24 months after diagnosis.Five of 37 cases in A group and 3 of 19 cases in NA group had supraglottoplasty.One infant in A group had tracheotomy.Conclusion Both breathing difficulty and development retardations of infants with moderate or severe laryngomalacia could gradually improved with age.There is not enough evidence to support the aggressive supraglottoplasty for infants with anomalies and laryngomalacia.
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OBJECTIVE@#To develop a five fluorescence-labeled multiplex amplification system for 15 loci and study genetic polymorphism in Xinjiang Uygur population.@*METHODS@#The STR loci were screened. The alleles were named according to the number of repeats by sequencing. The sensitivity, species specificity, identity and stability of the five fluorescence-labeled multiplex amplification system for the 15 loci were all tested. Then, the genetic polymorphism was analyzed in Xinjiang Uygur population and compared with other ethnic groups including Xizang Tibetan, Xiuyan Manchu, and Guangzhou Han population.@*RESULTS@#The 15 loci multiplex amplification system was established. The sensitivity was 0.3 ng with good species specificity, identity and stability. The distributions of genotype for 13 STR loci in Uygur population were in accordance with Hardy-Weinberg equilibrium with no genetic linkage between these loci. Most loci showed statistically significant among different populations.@*CONCLUSION@#The established system has application value in forensic evidence. The 13 STR loci in Uygur population have
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Humans , Alleles , Ethnicity/genetics , Gene Frequency , Genetic Linkage , Genotype , Multiplex Polymerase Chain Reaction/methods , Polymorphism, GeneticABSTRACT
Objective To develop a five fluorescence-labeled multiplex amplification system for 15 loci and study genetic polymorphism in Xinjiang Uygur population. Methods The STR loci were screened. The alleles were named according to the number of repeats by sequencing. The sensitivity, species specificity, identity and stability of the five fluorescence-labeled multiplex amplification system for the 15 loci were all tested. Then, the genetic polymorphism was analyzed in Xinjiang Uygur population and compared with other ethnic groups including Xizang Tibetan, Xiuyan Manchu, and Guangzhou Han pop-ulation. Results The 15 loci multiplex amplification system was established. The sensitivity was 0.3 ng with good species specificity, identity and stability. The distributions of genotype for 13 STR loci in Uygur population were in accordance with Hardy-Weinberg equilibrium with no genetic linkage between these loci. Most loci showed statistically significant among different populations. Conclusion The estab-lished system has application value in forensic evidence. The 13 STR loci in Uygur population have high polymorphisms to be the supplements to the existing loci.
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<p><b>OBJECTIVE</b>To investigate the effect of acupuncture on progesterone (P4) and prolactin (PRL) in rats of embryo implantation dysfunction (EID).</p><p><b>METHODS</b>On the first day of pregnancy, 72 female Wistar rats were randomly allocated into the normal group, the EID model group, the acupuncture group and the P4 group (18 in each group). The normal group was injected sesame oil, while the other three groups were given mifepristone to establish the EID model. The acupuncture group and the P4 group were given treatment of acupuncture and P4 injection, respectively. The serum of P4 and PRL were detected by radioimmunoassay, and the mRNA and protein expressions of P4 receptor (PR) and PRL receptor (PRLR) were detected using real-time polymerase chain reaction and immunohistochemical method, respectively.</p><p><b>RESULTS</b>Compared with the normal group, the serum levels of P4 and PRL as well as the mRNA and protein expression levels of PR and PRLR in the EID model group were significantly lowered (P<0.01 or P<0.05). The above indices in the acupuncture group and the P4 group were significantly elevated compared with the EID model group (P<0.01 or P<0.05).</p><p><b>CONCLUSION</b>Acupuncture can promote embryo implantation effectively, which might be related to the effects of acupuncture on upregulating the P4 and PRL levels in serum and the PR and PRLR expression levels in rats.</p>
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Animals , Female , Male , Pregnancy , Acupuncture Therapy , Embryo Implantation , Endometrium , Metabolism , Gene Expression Regulation , Immunohistochemistry , Pituitary Gland , Metabolism , Progesterone , Blood , Prolactin , Blood , RNA, Messenger , Genetics , Metabolism , Rats, Wistar , Receptors, Progesterone , Genetics , Metabolism , Receptors, Prolactin , Genetics , MetabolismABSTRACT
Objective To investigate the virulence gene and mutation features in the Chinese patients with autosomal dominant noctumal frontal lobe epilepsy(ADNFLE) by using the direct sequencing(DS) PCR products with all the exons of CHRNA4 in 6 ADNFLE families,and to interpret the molecular pathogenesis in Chinese patients affected by ADNFLE.Methods Six ADNFLE families were collected,included 66 people and 24 patients with ADNFLE,and 200 healthy volunteers were selected as control group.The genomic DNA was extracted.The exons 1-6 in CHRNA4 were amplified by the PCR.The amplified products were sequenced and analyzed.All data were analyzed with SPSS 13.0 software.Results There were 4 base substitutions in exon 5,and they were c.909T ＞ G,c.1440G ＞ T,c.1458T ＞ C and c.942C ＞ T.All those base substitutions were synonymous.The first three were homozygosis substitutions,but the last one was heterozygosis substitutions.Conclusions The hot spot mutations of CHRNA4 which have been reported were not detected.Whether or not there is a correlation between ADNFLE and this substitution need to be identified by study with
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In order to assess the number and function of macrophages in the placenta of pregnancy complicated with gestational diabetes mellitus (GDM) as well as those of normal pregnancies, placenta samples were collected from 15 GDM patients (GDM group) and 10 normal pregnant women (control group). The expression levels of macrophage markers (CD68/CD14) and inflammatory cytokines (IL-6/TNF-α) in placenta were detected using immunohistochemistry and PCR. The results showed that the number of CD68+ or CD14+ cells in the GMD group was remarkably higher than that in the control group (P<0.05), indicating that the number of macrophages in the GDM group was significantly greater than that in the control group. The mRNA expression levels of CD68+, IL-6 and TNF-α were higher in the GMD group than in the control group. In conclusion, more macrophages accumulate in placenta of pregnancy complicated with GDM, and the expression levels of pro-inflammation factors are also increased in GDM pregnancies, suggesting that macrophages and inflammatory mediators (IL-6 and TNF-α) may play an important role in GDM.
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In order to assess the number and function of macrophages in the placenta of pregnancy complicated with gestational diabetes mellitus (GDM) as well as those of normal pregnancies, placenta samples were collected from 15 GDM patients (GDM group) and 10 normal pregnant women (control group). The expression levels of macrophage markers (CD68/CD14) and inflammatory cytokines (IL-6/TNF-α) in placenta were detected using immunohistochemistry and PCR. The results showed that the number of CD68+ or CD14+ cells in the GMD group was remarkably higher than that in the control group (P<0.05), indicating that the number of macrophages in the GDM group was significantly greater than that in the control group. The mRNA expression levels of CD68+, IL-6 and TNF-α were higher in the GMD group than in the control group. In conclusion, more macrophages accumulate in placenta of pregnancy complicated with GDM, and the expression levels of pro-inflammation factors are also increased in GDM pregnancies, suggesting that macrophages and inflammatory mediators (IL-6 and TNF-α) may play an important role in GDM.
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Adult , Female , Humans , Pregnancy , Antigens, CD , Antigens, Differentiation, Myelomonocytic , Cell Count , Cytokines , Genetics , Allergy and Immunology , Metabolism , Diabetes, Gestational , Genetics , Allergy and Immunology , Metabolism , Immunohistochemistry , Inflammation Mediators , Allergy and Immunology , Metabolism , Interleukin-6 , Genetics , Allergy and Immunology , Metabolism , Lipopolysaccharide Receptors , Genetics , Metabolism , Macrophages , Allergy and Immunology , Metabolism , Pathology , Placenta , Allergy and Immunology , Metabolism , Reverse Transcriptase Polymerase Chain Reaction , Tumor Necrosis Factor-alpha , Genetics , Allergy and Immunology , MetabolismABSTRACT
<p><b>OBJECTIVE</b>To investigate mutations of CHRNA4 gene in Chinese patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).</p><p><b>METHODS</b>Two hundred and fifty-seven patients (including 215 sporadic and 42 familial cases) were analyzed. Mutational screening was performed by sequencing all of the 6 exons of the CHRNA4 gene including the donor and acceptor splice sites.</p><p><b>RESULTS</b>The results have excluded the involvement of any known mutations of the CHRNA4 gene. A novel synonymous mutation c.570C>T(D190D) and 6 single nucleotide polymorphisms (SNPs) of the CHRNA4 gene were detected in 6 sporadic cases, including c.639T/C, c.678T/C, c.1209G/T, c.1227T/C, c.1659G/A, and c.1629C/T. The SNP D190D was hererozygous and absent in 200 healthy controls.</p><p><b>CONCLUSION</b>This results suggested that mutations of the CHRNA4 gene may be rare in southern Chinese population with ADNFLE. The synonymous mutation D190D has not been reported previously. Its impact on the pathogenesis of ADNFLE warrant further study.</p>