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Objective:To report the clinical features of KCNQ2-associated epilepsy and the novel mutations and unreported clinical phenotype of KCNQ2 gene, so as to provide help for treatment selection and prognosis evaluation.Methods:Among 979 patients with epilepsy and developmental delay who were admitted to the Department of Neurology,Children′s Hospital Affiliated to Capital Institute of Pediatrics from July 2015 to October 2019, a total of 13 patients were selected from 12 families with KCNQ2 gene mutation by whole exome sequencing technology. Suspected mutations were verified by Sanger sequencing on the probands and their parents to identify the source. The clinical phenotype and genotype were analyzed according to these results.Results:Among the 13 patients with epilepsy, the onset age of four cases were older than six months [two cases in infancy (epilepsy encephalopathy), one case in early childhood (epilepsy encephalopathy) and one case in adolescence (benign epilepsy)]. Eight cases were treated with oxcarbazepine, of whom five cases were seizure free, and two cases showed partial response (>50%). Two cases treated with topiramate were seizure free. Five novel mutations were found in this research, including c.379T>G(p.Y127D), c.1A>C(initial codon mutation), c.708G>C(p.W236C), c.1027G>T(p.A343S) and c.1649T>G(p.V550G).Conclusions:Although it was rare in clinical work, the variation of KCNQ2 gene existed in patients with childhood-onset epilepsy and adolescent-onset epilepsy. Meanwhile, five novel mutations of KCNQ2 gene were reported, which further expanded its gene spectrum. This research supported that oxcarbazepine was the efficient medicine for the KCNQ2-associated epilepsy. Genetic testing showed great help to the treatment of epilepsy.
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OBJECTIVE@#To report on a family which has two siblings with SCN2A mutation caused by germline mosaicism suffering from autism spectrum disorder/development delay (ASD/DD).@*METHODS@#Clinical data was collected for the proband and his parents. Next generation sequencing (NGS) was carried out on the proband and his parents. Suspected mutations were verified by Sanger sequencing of the proband, his parents and brother. To detect whether there is a low proportion of somatic mosaicism in the parents, a droplet digital PCR was conducted. The result of ddPCR showed that the father was germline mosaicism (0.233%).@*RESULTS@#NGS has identified a de novo splicing mutation of the SCN2A gene, c.605+1G>A, in the proband and his brother. Combined with its clinical phenotype and inheritance pattern, SCN2A was judged to be the pathogenic gene. Above findings strongly suggested parental germline mosaicism.@*CONCLUSION@#ASD/DD in siblings with SCN2A mutations caused by germline mosaicism. Paternal mosaicism should be considered as one of the important inheritance patterns for counseling parents with a child carrying SCN2A mutation. The ddPCR can help to reveal very low proportion of germline mosaicism.
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Humans , Male , Autism Spectrum Disorder , Germ Cells , Mosaicism , Mutation , /genetics , SiblingsABSTRACT
OBJECTIVE：To study the improvement effects of ginsenoside Rb 3 combined with β-asarone on vascular dementia （VD）model mice and its mechanism. METHODS ：ICR mice were randomly divided into model group ，ginsenoside Rb 3 group（10 mg/kg），β-asarone group （10 mg/kg），drug combination group （ginsenoside Rb 3 10 mg/kg+β-asarone 10 mg/kg），positive control group（donepezil hydrochloride 1 mg/kg）and Akt inhibitor group （LY294002，1 mg/kg），and sham operation group was set up ， with 10 mice in each group. Except for sham operation group ，VD model was induced by four vessel occlusion method in other groups. After modeling ，sham operation group and model group were given constant volume of normal saline ，Akt inhibitor group was given relevant medicine intraperitoneally ，and other groups were given relevant medicine intragastrically ，twice a day ，for consecutive 30 d. After last administration ，the learning and memory ability of mice was detected by avoiding darkness test. The contents of 4-hydroxydecenoic acid （4-HNE），8-hydroxydeoxyguanosine （8-OHdG） and reactive oxygen species （ROS） in hippocampus was detected by ELISA. RT-PCR assay was used ， to detect the mRNA expression of Bcl- 2 and Bax inhippocampus. The protein expression of Bcl- 2 in cortex wadetected by immunofluorescence method. Western blotting deng- assay was used to detect the protein expression of Bcl- 2 and mz1@126.com Bax in hippocampus. RESULTS ： Compared with sham operation group ，the incubation period of avoiding darkness xiaoyinlanlp@126.com test in model group was shortened significantly ； and the number of errors was increased significa ntly；4-HNE，8-OHdG and ROS contents ，mRNA and protein expression of Bax were increased significantly ，and mRNA and protein expression of Bcl- 2 was decreased significantly （P＜0.01）. Compared with model group，the incubation period of avoiding darkness test was prolonged significantly in ginsenoside Rb 3 group，β-asarone group ，drug combination group and positive control group ，the number of errors was decreased significantly ；4-HNE，8-OHdG，ROS contents ， mRNA and protein expression of Bax were decreased significantly ，and mRNA and protein expression of Bcl- 2 were increased significantly，especially in drug combination group （P＜0.05 or P＜0.01）. But the incubation period of avoiding darkness test was shortened significantly in Akt inhibitor group ，and the number of errors was increased significantly ；4-HNE，8-OHdG，ROS contents，mRNA and protein expression of Bax were increased significantly ，and mRNA and protein expression of Bcl- 2 were decreased significantly （P＜0.05）. CONCLUSIONS ：Ginsenoside Rb 3 combined with β-asarone has a protective effect on VD model mice ，and the effect was better than that of each compound alone. The mechanism of which may be associated with anti-oxidative stress and anti-apoptosis of hippocampus.
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OBJECTIVE@#To explore the genetic basis for a pedigree affected with X-linked recessive mental retardation Claes-Jensen type.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the patient, his parents (phenotypically normal) and two elder brothers with similar clinical manifestations. Whole exome sequencing was carried out for the proband, and the result was verified by Sanger sequencing.@*RESULTS@#The proband was found to harbor a hemizygous c.1565C>T missense variant in exon 11 of the KDM5C gene. The transition has resulted in replacement of serine by phenylalanine at position 522 (p.Ser522Phe). Sanger sequencing showed that the patient's two elder brothers and mother carried the same variant, which was predicted to be probably damaging by SIFT, PolyPhen2 and Mutation_Taster. The three affected brothers presented with similar clinical phenotypes characterized by mental retardation, speech delay, behavioral problem, self-limited epilepsy responsible to medication, short stature and microcephaly. The mother only had mild cognitive impairment and learning disability. The same variant was not found in their father and was unreported previously.@*CONCLUSION@#The c.1565C>T (p.Ser522Phe) of the KDM5C gene probably underlay the X-linked recessive mental retardation Claes-Jensen type in this pedigree.
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Aged , Female , Humans , Male , Histone Demethylases/genetics , Mental Retardation, X-Linked/pathology , Mutation, Missense/genetics , Pedigree , Phenotype , Exome SequencingABSTRACT
Objective To analyze the clinical manifestation and genetic testing in a patient with Adams-Oliver syndrome (AOS) and summarize clinical and genetic characteristics of the dedicator of cytokinesis (DOCK) 6 gene related AOS through reviewing related references.Methods Information of the proband who was hospitalized in Affiliated Children Hospital of Capital Institute of Pediatrics in October 2016 and her family members as well as their DNA samples were collected.The gene sequencing was performed using next generation sequencing technology.Using "Adams-Oliver syndrome"and "DOCK6" as key words,the relevant articles were searched from the Pubmed,China National Knowledge Internet and Wanfang databases and reports of 19 cases were reviewed.Results The proband is an eight months old girl.She presented with severe developmental delay,terminal transverse limb defects and visual loss after birth,and then suffered from tonic seizures and myoclonic seizures at two months old.By physical examination she was found to have esotropia and visual loss.The distal phalanx and nail of the right second-fourth fingers were absent,while the phalangette of the left second-fourth fingers and bilateral distal phalanges of toes were short with small nails attachment.Thyroid function test showed hypothyroidism.The ocular fundus examination showed the residual vitreous artery in the left eye and the retinal pigment degeneration in the right eye.CT scan showed multiple bilateral periventricular calcification and cranial magnetic resonance imaging showed bilateral periventricular lesion.Two heterozygous mutations were identified in DOCK6 gene:one was a known pathogenic mutation (p.L1064Vfs*60),and the other was a novel splice site mutation (c.873+ 1G＞A).By analyzing this case and reported 19 cases,the common performances of DOCK6 gene related AOS included terminal transverse limb defects (20/20),aplasia cutis congenita (18/20),ocular abnormalities (13/20),seizures (12/20),mental retardation (12/20),microcephaly (10/20),cardiovascular malformations (10/20),intrauterine growth retardation (6/20).The mutation of the DOCK6 gene was found to be dominated by frameshift mutation and splice site mutation.Conclusions If either terminal transverse limb defects or aplasia cutis congenita was detected in a patient,AOS should be under consideration.In addition,autosomal recessive inheritance,nervous system and eyes involvement will further indicate DOCK6 gene related AOS.
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Objective To analyze the clinical and genetics characteristics in twin sisters with Cockayne syn-drome.Methods The identical twin sisters visited the Affiliated Children's Hospital of Capital Institute of Pediatrics in December 2016.The clinical presentations,course of treatment,blood biochemistry,metabolic screening and whole exon sanger sequencing were analyzed.Results These two patients were referred at 4 years and 5 months of age for growth failure and developmental delay.The younger sister manifested short stature(only 97 cm),low weight(14.0 kg)and little head circumference(43 cm),and the elder sister manifested short stature(only 98 cm),low weight(15.5 kg) and little head circumference(43 cm).They were born with out adverse event,and then they kept the head up at 8 months of age.They could sit at 10 months of age,but they had not acquired independent walking ability up till now. They spoke their first words at 2 year of age,and made little progress after that.They had a variety of abnormal clinical features including cognitive deficits,microcephaly,thin pointy nose,sunken eyes,small chin,photosensitive rash,hearing impairment,volitional tremor and hypermyotonia.They had been diagnosed as nephrotic syndrome at 4.5 years old,with little response to prednisone.The renal biopsy revealed minimal change nephropathy.Cerebrum and cerebellum atrophy was detected by magnetic resonance image scanning. Two heterozygous ERCC8 mutations in both patients,c.394_398delTTACA and large fragment deletion,were identified in the patient.The c.394_398delTTACA mutation originated from his father. The exon 4 deletion from his mother caused the defection of the protein. Conclusions Cockayne syndrome is a rare autosomal recessive disease. It is not only characterized by developmental delay,microcephaly, sunken eyes,photosensitive rash and auditory abnormalities,but also can be involved in nephrotic syndrome.Cockayne syndrome can be caused by compound heterozygous mutation,including c.394_398delTTACA and a large fragment deletion of exon 4 in ERCC8.
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OBJECTIVE To identify potential mutation in a patient with cutis laxa through exome sequencing of genetic disease-related genes and explore its clinical and genetic features. METHODS Clinical data was collected for the proband and her parents. Exome sequencing was carried out on the proband. Suspected mutations were verified by Sanger sequencing. RESULTS Exome sequencing identified a compound heterozygous mutation of the ATP6V0A2 gene, c.187C>T (p.R63X) and c.1189G>C (p.A397P), in the proband. The mutations were respectively inherited from the father and mother. The patient was diagnosed with autosomal recessive cutis laxa type 2A (ARCL2A). CONCLUSION A case with ARCL2A was diagnosed. The novel mutation has expanded the spectrum of ATP6V0A2 mutations. Exome sequencing is a useful tool for the diagnosis of complex genetic diseases.
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Objective To evaluate the application value of whole exome sequencing (WES) in diagnosis of NDDs (neuro-developmental disorders) children.Metheod WES was used for the diagnosis of 35 unexplained NDD children, which admitted to the outpatient and ward of Children′s hospital affiliated to Capital institute of pediatric from November 2015 to November 2016.These children′s clinical data was collected detailedly.Using bioinformatics software tools combining with patient′s phenotype, the candidate genetic/genomic variants of these patients were identified from WES data.The final pathogenicity of genetic/genomic variants was interpreted according to the guideline of the American College of Medical Genetics and Genomics (ACMG), meanwhile, the variants validation and co-separation analysis in the parents and their family members were performed by Sanger sequencing, real time-PCR and multiplex ligation-dependent probe amplification (MLPA).Results 14 pathogenic single nucleotide variants (SNVs) and three pathogenic copy number variations (CNVs) were detected in the 35 NDD children, the detection rate in this study is 48.6%.Among the 14 pathogenic SNVs, 11 of them are the definite NDD-related genes according to OMIM database (such as CHARGE syndrome, Wiedemann-Steiner syndrome, Cockayne syndrome, etc.), and six of them are de novo (6/11, 54.6%).Three pathogenic CNVs were identified from WES data, including two microduplications and one microdeletion.Meanwhile, a female child carrying a frame shift mutation in MECP2 was found and the germline mosaicism with low-frequency mutation of this site (8.4%) was confirmed by his father's sperm.Conclusions The diagnosis rate of WES in NDDs children is 48.6% in our small-sample study.In addition to pathogenic/likely pathogenic SNVs, CNVs can be detected successfully from WES data, which effectively improved the diagnosis yield in NDDs children.
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Objective To analyze the clinical features and pathogenic gene mutation in a Chinese family with cerebro-oculo-facio-skeletal(COFS)syndrome,in order to summarize the relationship between phenotype and genotype.Methods The clinical data of the proband and his family members were collected.Genomic DNA from the proband and his parents were extracted by using standard procedures from the peripheral blood leukocytes.Next-generation sequencing was used to detect gene mutation in the patient with COFS syndrome.Sanger sequencing was applied to confirm the results.Results The proband,male,1 year and 3 months old,presented with microcephaly nystagmus,large ears,prominent nose,high arched palate,overhanging upper lip,micrognathia,widely set nipples,flexion contractures(especially involving the elbows and knees),failure to thrive,developmental retardation and feeding difficulty.His parents were normal phenotype.Two different heterozygous mutations c.1843G>T(P.G615W)and c.1996 C> T(P.R666W)were identified in the ERCC2 gene.The proband's father had the heterozygous mutation c.1843G>T(P.G615W)and his mother had the heterozygous mutation c.1996 C> T(P.R666W).Meanwhile,this heterozygous mutation c.1996 C> T(P.R666W)had been reported as a pathogenic gene mutation.Conclusions COFS syndrome is characterized by microcephaly,prominent nose,arthrogryposis and severe developmental delay.This is the first report on COFS syndrome patient in the mainland of China.The pathogenic gene mutations and gene status were identified through genetic studies.The result has laid the foundation for accurate genetic counseling and further prenatal diagnosis.
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Objective@#To analyze the clinical and genetic features of 15 cases with intellectual disability or developmental delay (ID/DD) complicated with congenital nystagmus.@*Method@#The clinical characteristics and the results of laboratory tests, images and genetics of 15 patients with ID/DD complicated with congenital nystagmus, confirmed by gene diagnosis in the Department of Neurology, Children's Hospital Affiliated to Capital Institute of Pediatrics from March 2015 to October 2016, were retrospectively analyzed. The physiological function of 13 disease genes and the molecular signaling pathways were also comparatively studied.@*Result@#The patients included 11 males and four females, with an age of 2 months-15 years (median age 27 months). The result of multiplex ligation-dependent probe amplification was positive in two patients only with hypomyelination on head MRI. Positive results were found in 13 patients with or without abnormal head MRI or other deformities using targeted capture technology and next generation sequencing. Two patients were diagnosed with Pelizaeus-Merzbacher disease, two had hypomyelination with an atrophy of the basal ganglia and cerebellum and two had oculocutaneous albinism. Pelizaeus-Merzbacher-like disease was found in one case, cerebro-oculo-facio-skeletal syndrome in one case, Rubinstein-Taybi syndrome in one case, mental retardation type 5 in one case, methylmalonic aciduria combined with hyperhomocysteinemia in 1 case, ataxia telangiectasia in one case, hypomyelinating leukodystrophy type 8 in one case, Marinesco-Sjögren syndrome in one case and CHARGE syndrome in one case. A total of 12 novo mutations were reported in this study.@*Conclusion@#The causes of children with ID/DD complicated with congenital nystagmusis are complex. Comprehensive clinical and auxiliary examinations should be performed to improve the accuracy of the diagnosis. Reasonable application of different genetic testing methods can significantly improve the diagnostic accuracy of molecular genetic etiology in children with ID/DD.
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Objective To evaluate the therapeutic effect of computerized online cognitive training for children with attention deficit hyperactivity disorder (ADHD).Methods Fifteen children with ADHD recruited from Department of Neurology in the Children's Hospital Affiliated to Capital Institute of Pediatrics received computerized online cognitive training including attention training,visual spatial training and memory training.Cognitive neuropsychological test battery (choice reaction time,mental rotation,word semantic,simple subtraction,working memory and visual tracing) was used to assess the cognitive function in pre-training and post-training stages,such as basic response ability,reaction speed,visuo-spatial cognitive ability,semantic comprehension,calculation fluency,working memory and attention ability.Paired-samples t test was used to make comparison of the cognitive test results between pre-training condition and post-training condition.Results All the correction scores of cognitive tests were transformed to percentile scores.Paired-samples t test results showed that the ADHD children got higher scores in the post-training condition than in the pre-training condition in working memory test [(52.00 ± 20.77) ％ vs (39.73 ± 23.64) ％,t =2.72,P ＜ 0.05].There was no significant training effect in choice reaction time,mental rotation,sentence completion,simple subtraction and visual tracing(all P ＞ 0.05).Conclusions Computerized online cognitive training can significantly improve the working memory of children with ADHD,and has no side effects on other cognitive functions.It need to further expand the sample size and follow up the training effect for a long-term.
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Objective To detect genetic causes of idiopathic mental retardation/developmental delay in 20 male patients with epilepsy and to analyze their clinical characteristics of positive mutation carriers.Methods The families,consisted of the patient and his parents were recruited.Genomic DNA was extracted from peripheral blood,and candidate gene mutation screening was carried out by next-generation sequencing technology.Mutations in positive gene were verified by polymerase chain reaction(PCR) and direct sequencing.Results Three missense mutations were identified among 3 patients out of 20 cases,with a detection rate of 15％.They were:OPHN1 gene c.1996 C ＞ G,RAB39B gene c.542 C ＞ T and AFF2 gene c.427 A ＞ T,none of which had been reported before.All of these mutations were likely to be pathogenic based on gene function,evolutionary conservation,variant frequency in normal population (NHLBI Exome Sequencing Project and 1 000 Genomes),bioinformatics prediction and inheritance patterns.In addition,all 3 genes disrupted were residing on the X chromosome previously demonstrated to be associated with X-linked mental retardation(XLMR),indicating that they were probably pathogenic or might serve as one of the risk factors.Conclusions Abnormal function of genes on the X chromosomal is one of the most impotent causes of XLMR.X chromosomal gene mutation screening would be recommended for male children suffering from idiopathic mental retardation with epilepsy.
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<p><b>OBJECTIVE</b>Benign epilepsy with centro-temporal spikes (BECTs) is a common idiopathic partial epileptic syndrome in childhood, which often affect the pre-school and school-age children and a considerable proportion have comorbidity including lower academic achievement and cognitive impairment. Few studies involved the psychocognitive assessment in such a drug-treatable epileptic syndrome especially in the newly diagnosed and medications-naive group. This study aimed to investigate the cognitive characteristics of children with newly onset BECTs before treatment.</p><p><b>METHOD</b>Forty-one outpatients with newly diagnosed BECTs who visited the Clinic during the periods from October 2012 to May 2014 before the medications against epilepsy and 41 healthy controls recruited from regular school in Beijing during the period from July 2013 to March 2014, who matched in age and gender underwent battery testing by computerized cognitive testing in epilepsy (CCTE). The BECTs group included 41 children, 20 boys and 21 girls, mean age (8.2 ± 1.7) years, the age of onset of epilepsy 4.5-11.5 years (the age of onset <8 years in 25 cases, ≥ 8 years in 16 cases). The cognitive characteristics and associated factors were analyzed. The primary data including correct answer numbers and reaction times were analyzed by independent sample t-test between the two groups of children with BECTs and healthy controls based on SPSS 18.0 statistical software.</p><p><b>RESULT</b>Raw data of 9 tasks' scores collected from BECTs and healthy control children were continuous variables in accordance with normal distribution. BECTs children performed significantly worse than controls in choice reaction time ((618+158) vs. (524+254) ms), three-dimensional mental rotation (11 ± 10 vs. 18 ± 12) and visual tracing (10 ± 6 vs.15 ± 6), t=2.01, 3.03 and 3.47, P<0.05, <0.01 and <0.001, respectively.While other 6 tasks showed no significant difference between the two groups (P>0.05 for all comparisons). BECTs boys performed significantly worse than girls on simple substraction tasks compared with standard nine score ((4.7 ± 1.5) vs. (5.6 ± 1.2), t=-2.24, P<0.05). Other 8 tasks showed no significant difference between boys and girls (P>0.05 for all comparisons). Other 9 tasks showed no significant differences between the two groups of BECTs children whose age of onset was before 8 years and those who started seizure ≥ 8 years (P all >0.05). The standard nine scores of simple substraction from the three BECTs groups of dominance sides of spikes and waves during NREM showed significant difference (P<0.05). BECTs children with bilateral discharges performed significantly worse than the other two groups dominantly right or left discharges (4.7 ± 1.2 vs. 6.0 ± 1.2 vs. 4.9 ± 1.4, P all <0.05). There was no significant difference between the two groups with right and left side dominance discharges (P>0.05). Other 8 tasks showed no significant differences among the three groups (P>0.05 for all comparisons).</p><p><b>CONCLUSION</b>Although EEG discharges index below 50% during NREM period, while newly diagnosed BECTs children before treatment with medications against epilepsy performed poorer on tasks of choice reaction time, three-dimensional mental rotation, and visual tracing. The two factors of male and bilateral discharges during NREM period correlate with dysfunction of simple subtraction, the mechanism needs further study and the cognitive function of epilepsy children should be evaluated and followed up, in order to provide psychologic baseline data for persistent cognitive disturbance.</p>
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Child , Child, Preschool , Female , Humans , Male , Beijing , Case-Control Studies , Cognition , Cognition Disorders , Diagnosis , Comorbidity , Epilepsy, Rolandic , Reaction Time , SeizuresABSTRACT
Objective To explore the clinical characteristics,diagnosis,treatment and outcomes of anti-N-methyl-D-aspartate receptor(anti-NMDAR) encephalitis in children.Methods Six children diagnosed as anti-NMDAR encephalitis were recruited at the Department of Neurology,Capital Institute of Pediatrics,from December 2011 to April 2013.The data of clinical characteristics and laboratory examinations were retrospectively analyzed.All the children had long-term follow-ups and the prognosis was assessed.Results (1) Age and course of the disease at the time of the admission:the mean age of the 6 patients (2 female) was 3 years and 5 months,ranging from 2 years and 2 months to 6 years and 8 months.The course of the disease at the time of the admission ranged from 15 to 80 days,with a mean time of 39 days.(2)Clinical characteristics:5 cases had afebrile convulsion and 1 case had speech impairment at the onset of disease.Convulsion occurred in all the 6 cases,4 cases of whom had persistent convulsion,and 5 cases had impaired consciousness.All the 6 cases exhibited aphasia,and complicated with mental or emotional abnormalities,irritability or shouting.Five cases developed into sleep disorders such as sleep deprivation.Five cases had limb and facial involuntary movement,in which 2 cases had stereotyped action.Prominent autonomic nervous dysfunction including hidrosis was found in 1 case.(3) Laboratory examination:cerebrospinal fluid test was normal in 6 cases,and 1 case had slightly increased white blood cell level.Specific anti-NMDAR antibody was positive in serum and/or cerebrospinal fluid in the 6 cases.Electroencephalograph of the 6 cases showed slow wave background during lucid interval,and 5 cases had interictal epileptiform discharges.The skull MRI showed cerebral atrophy 4 cases,and 2 cases of them were complicated with encephalomalacia.No tumor was found in the patients.(4) Treatment and follow-ups:6 cases received gamma globulin or methylprednisolone or other immunotherapy.Three cases received combined therapy with Rituximab,1 case received plasmapheresis,and 1 case received Cyclophosphamide.Follow-ups lasted for 2 to 31 months.Three patients had clinical recovery,and varying degrees of neurological complications were found in 3 cases.Conclusions (1) Anti-NMDAR encephalitis is common in children.(2) The specificity of its clinical symptoms is not strong.The incidence of convulsion is high,and different degrees of consciousness disorders may occur in some of the severe patients.Degeneration of language function and emotional changes can be observed.Most pediatric patients have abnormal movement,and the symptoms of automatic nervous system are not prominent.(3) The disease can be confirmed by the specific anti-NMDAR antibody in the spinal fluid or plasma.(4) The time of clinical recovery is long,and an early immunotherapy is associated with a better prognosis.
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Clinical division of stages in 289 cases of chronic myelogenous leukemia (CML) and reviewing investigating survey analysis were made for its relationship with TCM syndromes. And then relative problems of clinical syndromes, names of diseases and syndromes were researched respectively according to the analytic results. It is indicated that the disease is characterized mainly by clinical changes of the 4 stages, i. e. pathogenic factor falling while body resistence excessive: pathogenic factor accumulating while body resistence prevailing; pathogenic factor advancing while body resistence weakened: pathogenic factor excess while body resistence deficience. And it is firstly put forward that Sui Du is served as name of disease and syndrome of CML.
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AIM: To study the effect of ligustrazine on pulmonary hypertensive rats induced by hypoxic hy- percapnia. METHODS: Thirty rats were randomly divided into three groups: control group(A), hypoxic hypercapnic group (B), hypoxic hypercapnia+ligustrazine (lig. ) group(C). RESULTS: (1) Mean pulmonary axterial pressure (mPAP)of group B was significantly higher than that of group A and mPAP of group C was significantly lower than that of group B(P0.05); (2)Electron microscopy and immunohistochemistry showed ligustrazing could inhibit the diposition of col- lagenous fiber(collagen type Ⅰ )in pulmonary arterioles induced by hypoxic hypercapnia; (3) Plasma endothelin level of group C was significantly lower than that of group B (P