Multiple mitochondrial dysfunction syndrome 2 caused by BOLA3 gene mutation: a case report and literature review / 中华神经科杂志

Objective:To report cases of multiple mitochondrial dysfunction syndrome 2 (MMDS2) caused by BOLA3 gene mutation, hoping to help clinical diagnosis. Methods:The medical records of a child with MMDS2 admitted to the Department of Neurology, Guangzhou Women and Children′s Medical Center in November 2021 were analyzed, and the clinical, imaging characteristics and prognosis of MMDS2 were summarized by literature review.Results:This 1 year and 9 months old male had a disease that started in childhood, with motor function regression and hyperlactatemia. Head magnetic resonance imaging indicated white matter lesions, and gene examination indicated the homozygous variation of BOLA3 gene c.295C>T(p.Arg99Trp). The diagnosis of MMDS2 was clear for the child. After treatment, the clinical symptoms and imaging of the child recovered significantly. Through literature review, 13 children with MMDS2 reported in 7 English literatures were reviewed. These cases had similar manifestations with the case reported in this study. Among them, 1 case recovered and 8 cases died in infancy. Conclusions:MMDS2 patients often show nervous system dysfunction such as motor regression, elevated lactate and white matter lesions, which often cause multiple system disorders. Some children die early, but some of them can be recovered.

Clinical and genetic analysis of a child with Mental retardation autosomal dominant 51 / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic basis of a child with Mental retardation autosomal dominant 51 (MRD51).@*METHODS@#A child with MRD51 who was hospitalized at Guangzhou Women and Children's Medical Center on March 4, 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a 5-year-and-3-month-old girl, had manifested autism spectrum disorder (ASD), mental retardation (MR), recurrent febrile convulsions and facial dysmorphism. WES revealed that she has harbored a novel heterozygous variant of c.142G>T (p.Glu48Ter) in the KMT5B gene. Sanger sequencing confirmed that neither of her parents has carried the same variant. The variant has not been recorded in the ClinVar, OMIM and HGMD, ESP, ExAC and 1000 Genomes databases. Analysis with online software including Mutation Taster, GERP++ and CADD indicated it to be pathogenic. Prediction with SWISS-MODEL online software suggested that the variant may have a significant impact on the structure of KMT5B protein. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic.@*CONCLUSION@#The c.142G>T (p.Glu48Ter) variant of the KMT5B gene probably underlay the MRD51 in this child. Above finding has expanded the spectrum of KMT5B gene mutations and provided a reference for clinical diagnosis and genetic counseling for this family.

Analysis of NR2F1 gene variant in a child with optic atrophy and global developmental delay / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with optic atrophy and global developmental delay.@*METHODS@#A child who had presented at the Guangzhou Women and Children's Medical Center in January 2022 was selected as the study subject. Clinical data were collected. Whole exome sequencing (WES) was carried out for the child. Candidate variant was validated by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The child, a nine-month-old female, had manifested dysopia and global developmental delay. Genetic testing revealed that she has harbored a de novo c.425G>C (p.Arg142Pro) variant of the NR2F1 gene, which has been associated with Bosch-Boonstra-Schaaf syndrome. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PS2+PM1+PM2_Supporting+PM5+PP3+PP4).@*CONCLUSION@#The c.425G>C (p.Arg142Pro) variant of the NR2F1 gene probably underlay the pathogenesis in this child. Above finding has enriched the genotypic and phenotypic spectrum of the NR2F1 gene.

Diagnosis of a child with mitochondrial myopathy and cerebellar atrophy with ataxia due to compound heterozygous variants of MSTO1 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with myopathy and cerebellar atrophy with ataxia.@*METHODS@#Clinical examinations and laboratory testing were carried out for the patient. The proband and the parents' genomic DNA was extracted from peripheral blood samples and subjected to trio whole-exome sequencing. Candidate variant was validated by Sanger sequencing.@*RESULTS@#The 1-year-and-8-month-old boy manifested motor developmental delay, ataxia, hypomyotonia, increased serum creatine kinase. Cranial MRI showed cerebellar atrophy with progressive aggravation. Genetic testing revealed that the patient has harbored compound heterozygous variants of the MSTO1 gene, namely c.13delG (p.Ala5ProfsTer68) and c.971C>T (p.Thr324Ile), which were respectively inherited from his mother and father. The former was unreported previously and was predicted to be likely pathogenic, whilst the latter has been reported previously and was predicted to be of uncertain significance.@*CONCLUSION@#The compound heterozygous c.13delG (p.Ala5ProfsTer68) and c.971C>T (p.Thr324Ile) variants probably underlay the disease in the proband. Above finding has enriched the spectrum of MSTO1 gene variants underlying mitochondrial myopathy and cerebellar atrophy with ataxia.

Analysis of a family with inherited generalized epilepsy with febrile seizures plus caused by the KCNT2 mutation and literature review / 中华实用儿科临床杂志

Objective:To explore the clinical characteristics and treatment of a family with inherited generalized epilepsy with febrile seizures plus (GEFS + ) caused by the KCNT2 gene mutation and review the literature. Methods:Clinical data of a child with GEFS + and his family members who visited Department of Pediatric Neurology, Guangzhou Women and Children′s Medical Center in May 2019 were collected.DNA samples were collected from the peripheral blood of the proband, his parents, his elder brother, and his maternal grandparents, and genetic analysis and verification were performed using the next-generation sequencing technique.Using " KCNT2" as the key word, literature was retrieved from PubMed, China National Knowledge Infrastructure and Wanfang databases (up to August 2019). Results:The proband was a 3-year-old boy who was admitted to Guangzhou Women and Children′s Medical Center because of frequent epileptic seizures in the past 5 months.He presented with a binocular gaze and experienced 3 to 8 times of extremities myoclonic-spastic epileptic attacks every day.He had a history of 3 times of febrile seizures at the age of 2 years old.His seizures were refractory to Sodium valproate, Topiramate, Nitrazepam and Levetiracetam.His elder brother and mother had a history of childhood febrile seizures.Other members in the family had no history of convulsion.Ictal electroencephalogram showed general 1 Hz high voltage spike-slow waves.A heterozygous nonsense mutation of KCNT2 gene c. 574C>T(p.Q192X) that was never reported previously was detected in the proband, his brother, mother and maternal grandmother.Furthermore, no other family members carried the mutation at the c. 574 locus of the KCNT2 gene.No article in Chinese was found, and 2 articles in a language other than Chinese provided the complete data of 3 sporadic cases.Together with 4 cases in the family studied in this article, there were 7 cases and 4 mutation sites in KCNT2 gene.Of these mutations, there were 3 missense mutations and 1 nonsense mutation.Three sporadic patients presented with early infantile epileptic encephalopathy.The family of this study was characterized with febrile seizures and febrile seizures plus. Conclusions:A de novo mutation and phenotype of the KCNT2 gene is found in a family with GEFS + .It would expand the gene mutation spectrum and provide basis for family genetic counseling. KCNT2 mutation induced GEFS + is refractory to antiepileptic drugs.

Glycogen storage syndrome type 0 caused by GYS2 gene variation and phenotypic differences between two siblings / 中华医学遗传学杂志

OBJECTIVE@#To provide a basis for genetic counseling and clinical precision therapy by exploring the genetic etiology of a child with recurrent hypoglycemia convulsion accompanied by language retardation.@*METHODS@#Peripheral blood samples were obtained from the proband, his sister and his parents. Whole genomic DNA was extracted and analyzed by the whole exon gene sequencing and confirmed by Sanger sequencing.@*RESULTS@#The proband and his sister were found to carry compound heterozygous variants c.731T>A (p.M244L) and c.928G>A (p.G244S) of the GYS2 gene, which had not been reported in the past, the c.731T>A (p.M244L) site was derived from the maternal heterozygous mutation, while c.928G>A (p.G244S) site from the father heterozygous mutation.@*CONCLUSION@#The compound heterozygous variants c.731T>A (p.M244L) and c.928G>A (p.G244S) of the GYS2 gene were the genetic cause of glycogen storage syndrome type 0 in children, providing basis for family genetic counseling. When the patient had Hypoglycemia often accompanied with convulsions, which was easy to be misdiagnosed as seizures, and the antiepileptic treatment was ineffective. After genetic diagnosis, the seizure can be controlled by improving diet to maintain blood glucose stability.

Analysis of D4Z4 mutation in a child with facioscapulohumeral muscular dystrophy presented initially as mental retardation / 中华医学遗传学杂志

OBJECTIVE@#To identify pathological mutation of D4Z4 in a child with facioscapulohumeral muscular dystrophy (FSHD) presented initially as mental retardation.@*METHODS@#Wechsler Intelligence Scale for Children Revised in China (WISC-IV) was used to assess the patient's IQ. Other clinical data was also collected. With genomic DNA extracted from peripheral blood samples, the child and his parents were subjected to medical exome sequencing and copy number variation analysis by next generation sequencing (NGS). The D4Z4 repeats and their origin source were determined by molecular combing.@*RESULTS@#By the WISC-IV test, the child was found to have a total IQ of 41, with a speech comprehension IQ of 45, and perceptual inference index IQ of 52. No pathological mutation was detected by NGS. By molecular combing method, the child was found to carry a D4Z4 spanning 5.2 kb with a copy number of 2. Analysis of his parents indicate that the mutation was de novo.@*CONCLUSION@#The D4Z4 copy number variation may account for the FSHD and mental retardation in the child. The molecular combing method can be used to identify the number of repeat units and facilitate the diagnosis of FSHD.

Clinical and genetic analysis of a creatine transporter deficiency family / 中华神经科杂志

Objective:To report the clinical and genetic characteristics of a family of creatine transporter deficiency (CRTR-D) caused by SLC6A8 gene mutation.Methods:A patient, who came from Department of Neurology, Shanxi Children′s Hospital in September 2018, with epilepsy and unexplained general developmental retardation, was clinically examined. The medical history of his family was also collected. Genetic detection was performed to analyze their genetic causes.Results:The proband, a three years and three months old boy, was walking unsteadily, unable to speak and having frequent seizures, with increased urine creatine/creatinine ratio and decreased peak of cerebral creatine indicated by magnetic resonance spectrum. The proband′s uncle had the similar symptoms with him. The mother of the proband only showed some learning difficulties, while the father, sister and grandparents of the proband had no symptoms. The proband was found to have TTC deletion mutation of SLC6A8 gene (NM_005629), c. 1222_1224del (p.Phe408del), suggestting the diagnosis of X-linked CRTR-D. The proband′s mother and grandmother had heterozygous mutations. The proband′s uncle carried the same hemizygous mutation, which was not detected in the proband′s father, sister or grandfather.Conclusion:In this family of CRTR-D caused by SLC6A8 gene mutation, two female carriers with the same mutation presented different clinical features, suggesting phenotypic variation, which has a great significance in studying the correlation between genotype and phenotype.

The variation and significance of T, B, NK lymphocyte subgroup in children with anti-N-methyl-D-aspartate receptor encephalitis / 国际儿科学杂志

Objective:To investigate the variation of T, B, NK lymphocyte subgroup in children with anti-N-methyl-D-aspartate receptor(NMDAR)encephalitis and their clinical significance.Methods:This was a prospective and control study.Forty children primarily diagnosed with anti-NMDAR encephalitis in the department of neurology in Guangzhou Women and Children′s Medical Center from January 2017 to August 2019 served as patient group, 20 healthy children served as control group.Absolute counts and percentages of T, B and NK lymphocytes in whole blood were detected before and 1 month after treatment in patient group.Serum immunoglobulin G(IgG), IgA and IgM were measured before treatment.The blood levels of T, B, NK lymphocyte subgroup were detected with flow cytometer.NMDAR antibody titers of serum and cerebrospinal fluid were detected in patient group.The differences between patient group at different time points and control group were compared.The patients were divided into two groups according to the response to treatment after 2 weeks and the absolute counts of T, B and NK lymphocytes before treatment were compared between groups.Results:Compared with control group, the blood absolute count of B lymphocyte in patient group were significantly higher before and after treatment( P<0.05). There was no significant difference of B lymphocyte in patient group between before and after treatment.After treatment, T cells(including T inhibitory cells and T helper cells)were significantly increased compared with those before treatment and those in control group( P<0.05), but there was no significant difference between patient group and control group before treatment.These with poor response to treatment after 2 weeks had higher level of B, T lymphocyte subgroup compared to those with good response( P<0.05). The level of IgG, IgA, IgM in patient group showed no significant difference with control group.There was no significant correlation between B lymphocyte count in blood and NMDAR antibody titer in cerebrospinal fluid( r=0.282, P>0.05). Conclusion:B lymphocytes increase greatly in children with anti-NMDAR encephalitis, and the level of B lymphocyte subgroup before treatment are associated with treatment response, and T lymphocytes increase greatly after treatment.There is no significant correlation between the titer of NMDAR antibody in cerebrospinal fluid and B lymphocyte level.

Research on fuII - term brain metaboIites in predicting Iong - term neuroIogicaI deveIopment in preterm infants / 中华实用儿科临床杂志

Objective To kxplork thk valuk of dktkcting brain mktabolitks of prktkrm infants at full tkrm for prkdicting thk nkurodkvklopmkntal lkvkl,and to providk thk basis for karle clinical intkrvkntion. Methods Thirte casks of prktkrm infants wkrk collkctkd from thk Nkonatal Intknsivk Cark Rnit and Nkuro - Akhabilitation Dkpartmknt of Guangzhou Zomkn and Childrkn＇s Mkdical Ckntkr bktwkkn Mae 2015 and March 2016,thkn thke wkrk chkcckd be adopting brain magnktic rksonanck imaging and magnktic rksonanck spkctroscope at corrkctkd full tkrm,and assksskd be using Llbkrta Infant Motor Scalk(LIMS)and Gkskll dkvklopmkntal scalk kvaluation at corrkctkd agk of 6 months and corrkctkd of agk 1 ekar old. ResuIts In thk 30 casks of prktkrm infants,19 casks wkrk malk,11 casks wkrk fkmalk,and thk gkstational agk was 27+3 -31 wkkcs,and avkragk gkstational agk was(28. 8 ± 1. 0)wkkcs,and thk birth wkight was 800-1 400 g[(1 176. 3 ± 145. 1)g]. Thk stude found that meo-inositol( MI),MI╱crkatink( Cr)in basal ganglia wkrk nkgativkle corrklatkd with thk dkvklopmknt quotiknt at corrkctkd agk of 1 ekar old(r﹦ -0. 465,-0. 532;all P＜0. 05). Factic acid(Fac)╱Cr in hippocampus was nkgativkle corrklatkd with dkvklopmkntal quotiknt at corrkctkd agk of 6 months(r﹦ -0. 420,P＜0. 05);Fac,Fac╱Cr in pkrivkntricular wkrk nkgativkle corrklatkd with dkvklopmkntal quo-tiknt at corrkctkd agk of 1 ekar old(r ﹦ -0. 405,-0. 386;all P ＜0. 05). Fac╱Cr in pkrivkntricular was nkgativkle corrklatkd with LIMS scorks at corrkctkd agk 1 ekar old(r﹦ -0. 380,P＜0. 05);Fac,Fac╱Cr in ckrkbkllum wkrk nkga-tivkle corrklatkd with dkvklopmknt quotiknt at corrkctkd agk of 1 ekar old(r﹦ -0. 393,-0. 394;all P＜0. 05). Thkrk was no corrklation bktwkkn frontal lobk mktabolitks and nkurodkvklopmkntal lkvkl(P＞0. 05). ConcIusions Prktkrm infants brain mktabolitks at full tkrm contributk to prkdicting nkurodkvklopmkntal lkvkl. MI,Fac,MI╱Cr,Fac╱Cr ark of valuks for prkdicting nkurodkvklopmkntal lkvkl,and MI╱Cr is thk bkst prkdictor. Lmong frontal lobk,basal ganglia, hippocampus,pkrivkntricular and ckrkbkllum,thk pkrivkntricular is thk bkst arka for prkdicting nkurodkvklopmkntal lkvkl. Corrkctkd agk of 1 ekar old maebk thk bkst timk to prkdicting nkurodkvklopmkntal lkvkl.

Clinical analysis of relapsed demyelinating disease associated with myelin oligodendrocyte glycoprotein antibody in children / 中华实用儿科临床杂志

Objective To investigate the clinical characteristics,treatment and prognosis of relapsed demyelinating disease (RDD) associated with myelin oligodendrocyte glycoprotein antibodies (MOG abs) children in southern China.Methods Children with RDD associated with MOG abs at Department of Neurology in Guangzhou Women and Children's Medical Center from January 2015 to December 2018 were retrospectively analyzed.The annualized relapse rates (ARRs) and expand disability status scale (EDSS) were used to assess the recurrence frequency and neurological dysfunction respectively.Results Ten children were included with the age of (6.4 ± 3.6) years old,and male to female ratio was 4 ∶ 6.(1)Clinical phenotype:all children had 24 episodes during follow-up,with acute disseminated encephalomyelitis (ADEM)(7/10 cases) and neuromyelitis optica spectrum disorders (NMOSD)(3/10 cases) on the first episode.Among 14 recurrent episodes,ADEM (9/14 times) was the most common,followed by optic neuritis(ON) (3/14 times) and brainstem encephalitis (2/14 times).By the final follow-up,the final diagnosis was multiphasic disseminated encephalomyelitis (MDEM) (6/10 cases),NMOSD (3/10 cases),ADEM-ON (1/10 case),respectively.(2) Laboratory examination:all the children had positive serum MOG abs in the acute stage.The serum MOG abs titer high group(≥1 ∶ 640) (6 cases)on the first episode complicated ON (3 cases) and long segment myelitis (3 cases) more common than those of low group (1 ∶ 320) (4 cases).(3)Imaging changes:25 times of bain magnetic resonance imaging (MRI) were performed in the acute stage,MRI changes mostly involved the cortex and subcortical white matter.Four cases had abnormal spinal cord MRI.(4)Treatment and prognosis:intravenous methylprednone (IVMP) combined with intravenous immunoglobulin (IVIG) were administrated in acute stage.Rituximab (2/10 cases),mycophenolate mofetil (4/10 cases),IVIG (2/10 cases) monthly and low dose prednisone orally (2/10 cases) were given respectively in maintains stage.ARRs decreased from 1.4 to 0 and EDSS score improved significantly after these treatments above.Seven cases had residual neurological dysfunction with 3 cases of NMOSD,3 cases of MDEM and 1 case of ADEM-ON,including motor dysfunction,learning disability and inattention,symptomatic epilepsy and visual impairment.Conclusions ADEM is the most common form of RDD associated with MOG abs in children.Those with high serum MOG abs titer on the first episode are prone to have ON or long segment myelitis.Immunomodification therapy is effective in the relapsed patients,residual neurological sequelae were related to the type of repeated demyelination.

Clinical analysis of relapsed demyelinating disease associated with myelin oligodendrocyte glycoprotein antibody in children / 中华实用儿科临床杂志

Objective@#To investigate the clinical characteristics, treatment and prognosis of relapsed demyeli-nating disease (RDD) associated with myelin oligodendrocyte glycoprotein antibodies (MOG abs) children in southern China.@*Methods@#Children with RDD associated with MOG abs at Department of Neurology in Guangzhou Women and Children′s Medical Center from January 2015 to December 2018 were retrospectively analyzed.The annualized relapse rates (ARRs) and expand disability status scale (EDSS) were used to assess the recurrence frequency and neurological dysfunction respectively.@*Results@#Ten children were included with the age of (6.4±3.6) years old, and male to female ratio was 4∶6.(1)Clinical phenotype: all children had 24 episodes during follow-up, with acute disseminated encephalomyelitis (ADEM)(7/10 cases) and neuromyelitis optica spectrum disorders (NMOSD)(3/10 cases) on the first episode.Among 14 recurrent episodes, ADEM (9/14 times) was the most common, followed by optic neuritis(ON)(3/14 times)and brainstem encephalitis (2/14 times). By the final follow-up, the final diagnosis was multiphasic disseminated encephalomyelitis(MDEM)(6/10 cases), NMOSD(3/10 cases), ADEM-ON(1/10 case), respectively.(2)Laboratory examination: all the children had positive serum MOG abs in the acute stage.The serum MOG abs titer high group(≥1∶640)(6 cases)on the first episode complicated ON (3 cases) and long segment myelitis (3 cases) more common than those of low group(1∶320)(4 cases). (3)Imaging changes: 25 times of bain magnetic resonance imaging (MRI) were performed in the acute stage, MRI changes mostly involved the cortex and subcortical white matter.Four cases had abnormal spinal cord MRI.(4)Treatment and prognosis: intravenous methylprednone (IVMP) combined with intravenous immunoglobulin (IVIG) were administrated in acute stage.Rituximab (2/10 cases), mycophenolate mofetil (4/10 cases), IVIG (2/10 cases) monthly and low dose prednisone orally (2/10 cases) were given respectively in maintains stage.ARRs decreased from 1.4 to 0 and EDSS score improved significantly after these treatments above.Seven cases had residual neurological dysfunction with 3 cases of NMOSD, 3 cases of MDEM and 1 case of ADEM-ON, including motor dysfunction, learning disability and inattention, symptomatic epilepsy and visual impairment.@*Conclusions@#ADEM is the most common form of RDD associated with MOG abs in children.Those with high serum MOG abs titer on the first episode are prone to have ON or long segment myelitis.Immunomodification therapy is effective in the relapsed patients, residual neurological sequelae were related to the type of repeated demyelination.

Applied research on propofol and midazolam anesthesia in the treatment of persistent state of intractable epilepsy in children / 中国综合临床

Objective To investigate the effect of propofol and midazolam anesthesia in the treatment of persistent state of intractable epilepsy in children.Methods A total of fifty children with intractable epilepsy were selected in Guangzhou Women and Children''s Medical Center from May 2011 to May 2016,and were divided into propofol group and midazolam group according to the method of anesthesia,each group 25 cases.In the treatment,continuous EEG and ECG monitoring were applied in both groups,and the changes in hemodynamics were recorded in order to compare the medication and treatment effects.Results After epilepsy was under control and drug was withdrawn,the heart rate (HR),systolic pressure (SBP),diastolic pressure (DBP) of the two groups were all reduced,lower than the data collected before the treatment,the differences were statistically significant (P<0.05);in the propofol group,HR and SBP after control were (93.21±17.61) time/min and (92.44±12.84) mmHg (1 mmHg=0.133 kPa),lower than those of the midazolam group((109.84±18.41) time/min,(101.93±14.79) mmHg,t=3.264,2.423,P<0.05);the medication time,control time,intubation time of the propofol group were all shorter than those of the midazolam group ((13.21±2.14) h vs.(15.39±3.39) h,(3.47±0.89) min vs.(8.79±1.21) min,(2.03±0.79) d vs.(6.31±1.34) d,t=2.719,17.709,13.757,P<0.05);the total effective rate in the propofol group was significantly higher than that of the midazolam group (97.5%(39/40) vs.82.5%(33/40),χ2=5.357,P=0.021).Conclusion Propofol is effective in the treatment of persistent state of intractable epilepsy in children with good sedative effect,and can also reduce children''s resistance,therefore it''s worth promoting and applying into treatment.

Performance and colonoscopic observation in macaques / 中国比较医学杂志

Diarrhea is a common intestinal symptom in macaque.The corresponding intestinal lesions of macaque are mainly described at autopsy but less observed by colonoscopy.The aim of this study was to develop a colonoscopic technique and to obtain endoscopic images of the entire colon in macaques.Eight healthy adult macaques ( 5 males and 3 females) without diarrhea for 2 months, were fed Glauber’ s salt through nasogastric tubes.The colon cleanliness was well matched to the endoscopic observation of macaque colon.The procedure took 10-20 min for each animal.There was no obvious abnormality in the colon of four animals except some slight differences of mucosal structure from that of human beings.Small pieces of erosion and ulcer in the colons were observed in four macaques which presented mild diarrhea for less than 1 day, while a severe stenosis was observed in one of those four macaques.No animal died during and one week after the endoscopic procedure.Colonoscopy may safely performed in macaques.The images taken by colonoscopy may be important to establish diagnosis and treatment of colitis in macaques in time and to evaluate the efficacy of drug intervention as well.This technique is also helpful to provide qualified macaques for scientific researches.

Clinical features and imaging examination analysis of bacterial meningitis in children / 中华实用儿科临床杂志

Objective To investigate the clinical features and the imaging examination changes of bacterial meningitis in children of different age groups,and to offer theoretical basis for the clinic diagnosis of bacterial meningi-tis. Methods The sick children with bacterial meningitis treated in Guangzhou Women and Children′s Medical Center from January 2011 to June 2013,were recruited and divided into three groups according to the age,including newborns group,infants group and more than 1 year group. Eighty-nine cases with purulent meningitis were recruited,included 58 males and 31 females. Among them,there were 34 cases in the newborns group,41 cases in the infants group and 14 ca-ses in the more than 1-year group. The information on the clinical features,laboratory examination and the imaging ex-amination were summarized and analyzed,and were compared among the 3 groups. Results (1)Among them,54 cases with high fever,44 cases with respiratory symptoms,12 cases with alimentary tract symptoms. (2)The major neurologi-cal features included convulsions(44 cases,49. 4%),fatigue(36 cases,40. 4%),vomiting(21 cases,23. 6%),cervical rigidity(9 cases,10. 1%),fontanel full(7 cases,7. 9%),headache(6 cases,6. 7%),limb paralysis(5 cases,5. 6%). The percentage of high fever,vomiting,headache,cervical rigidity in the more than 1 year group were significantly more than those of the newborns group and the infants group(χ2=10. 093,12. 063,34. 466,7. 177,all P<0. 05). (3)Among them,whitebloodcell(WBC)accountswerefrom2.20to60.60×109/L,themeanwas(16.49±10.37)×109/L.Hy-persensitive C-reaction protein concentration in blood was 4. 00 to 376. 53 g/L,the mean was (131. 07±86. 91) g/L. In cerebrospinal fluid(CSF),WBC accounts were from 1 to 21 800×106/L,the mean was (910. 05±274. 07)×106/L, the glucose concentration from 0. 00 to 4. 50 mmol/L,the mean (1. 72±1. 03)mmol/L,the protein concentration from 0. 42 to 4. 89 g/L,the mean was(1. 64±1. 03)g/L. In 40 cases with atypical CSF change, 23 cases with CSF glucose ratio(CSF glucose/blood glucose) less than or equal to 0. 4, and 15 cases with blood cultures positive. (4)The image examination showed magnetic resonance imaging( MRI) abnormalities in 51/75 cases,computerized tomography( CT) scan abnormalities in 15/30 cases. The percentage of convulsions,the brain MRI abnormalities and the MRI display rate of bacterial meningitis in the infants group were significantly more than those of the newborns group and the more than 1 year group(χ2=11. 768,9. 047,7. 674,all P<0. 05). The display rate of meningitis and subdural hydroma by the brain MRI were significantly more than those of the head CT scan(χ2=7. 430,5. 291,all P<0. 05). Conclusions Be-cause of the atypical clinical features of bacterial meningitis in newborn and infant, lumber puncture should be per-formed in all doubtful cases who had a fever and/or seizure. CSF glucose less than or equal to 0. 4 of simultaneously ob-tained blood glucose value,the enhanced MRI sequence or blood cultures were useful for the likelihood of meningitis,if CSF chemistries and cytology vary atypically. The MRI sequence can significantly mostly improve the display rate of bacterial meningitis than the enhance CT.

Bone morphogenetic protein-4 compounded with platelet-rich plasma promotes bone healing / 中国组织工程研究

BACKGROUND:Studies have shown that bone morphogenetic proteins play a key role in skeletal development. Platelet-rich plasma alone in animal or clinical trials cannot significantly promote bone graft healing. OBJECTIVE:To investigate the osteogenesis effect of bone morphogenetic protein-4 compounded with platelet-rich plasma the bone defect area. METHODTwenty-four New Zealand white rabbits were selected to establish maxil ary bone defect models, and then were randomly divided into four groups, six rats in each group. Group A was blank control group;Group B wasβ-tricalcium phosphate (0.1 g)+Bio-gide group;group C wasβ-tricalcium phosphate (0.1 g)+Bio-gide+platelet-rich plasma (1 mL) group;and group D wasβ-tricalcium phosphate (0.1 g)+Bio-gide+platelet-rich plasma (1 mL)+bone morphogenetic protein-4 (5μg). Gross observation, histological observation and imaging analysis were performed for analysis of new bone formation at weeks 4, 8, 12 after modeling. RESULTS AND CONCLUSION:After 4 weeks, group D had more new bone and vessels formed in the bone defect area than the group B (P<0.01);however, the amount of new bone was higher in the group B than the group A (P<0.01). After 4, 8, 12 weeks, the amount of new bone in the bone defect area was higher in the group D than the groups B and C (P<0.01), and lowest in the group A (P<0.01). In theβ-tricalcium phosphate scaffold, platelet-rich plasma combined with bone morphogenetic protein can significantly promote the healing of bone defects.

Seventy years autism：from Kanner to DSM-V / 临床儿科杂志

The diagnostic criteria for autism was revised in the 5th edition of Diagnostic and Statistical Manual of Mental Disorders (DSM-Ⅴ) in 2013. This year also marks the 70th anniversary of psychiatrist Leo Kanner’s ifrst clinical description of autism. The great changes in the diagnostic criteria within the 70 years relfect the challenge and dififculty of the diagnostics of autism. In DSM-Ⅴ, autism spectrum disorder is under the category of neurodevelopmental disorder, with the cancellation of the deifnition of pervasive developmental disorder;“persistent impairment in social communication and social interaction”plus“restricted, repetitive patterns of behavior”;the symptoms have to be present in the early development period. Compared with DSM-Ⅳ, DSM-Ⅴis justiifed to remove the“discrete”sub-categories including autistic disorder, Asperger disorder, childhood disintegrative disorder and pervasive developmental disorder not otherwise specified in DSM-Ⅳ, and the deleted ones are absorbed into a single category, autism spectrum disorder;the numbers of general items of diagnostic criteria are reduced to 7, while the number of minimal items for diagnostics are decreased to 5. The concept of DSM-Ⅴdeifning autism spectrum disorder as a single category will profoundly result in changes of prevalence, diagnostics, intervention, prognosis, and other related regions of autism.

Expression of green fluorescent protein gene in rat chondrocytes mediated by lentiviral vector / 中国矫形外科杂志

[Objective]To study the transfection and expression of green fluorescent protein gene in rat chondrocytes by constructing a combination lentiviral vector containing green fluorescent protein gene.[Method]293T cells were co-transfected with the vector plasmids pLentiLox 3.7,the packaging plasmids pRSV-REV,pMDL g/p RRE and the envelope plasmids VSV-G to produce lentiviral vector particles.Rat chondrocytes were isolated,cultured and infected by the lentiviral vector particles.The expression of reporter gene GFP was observed under fluorescent microscope.[Result]At 96 hours after transfection,a strong expression of GFP could be found in 293T cells.The viral titer was 3.0?103ifu/?l.GFP expression was observed in about 80% of the rat chondrocytes.[Conclusion]A combination lentiviral vector containing green fluorescent protein gene was successfully established and it could infect rat chondrocytes efficiently,which will provide a basis for gene modification of chondrocytes through RNA interference.