Objective To investigate the expression pattern of carbonic anhydrase 1 (CA1) in different clinical stages of color ectal cancers and the correlation between CA1 expression and pathologic characteristics of colorectal cancer.Methods The expression of CA1 in genetic level was detected by real-time quantitative polymerase chain reaction (PCR) and the expression of CA1 in protein level was detected by Western blot and immunohistochemical staining.Results The expression pattern of CA1 in the protein level was very similar to the genetic level.It had a very low expression level in carcinoma tissue,especially at stages Ⅲ and Ⅳ (P ＜0.01),CA1 had significantly lower expression level in the colorectal patients with metastasis (P ＜0.01).CA1 was gradually decreased from well-differentiation tissue to poorly-differentiation tissue with a significant difference between well-differentiated adenocarcinoma and poorly-differentiated adenocarcinoma (P ＜ 0.01).Kaplan-Meier survival analysis showed that the expression of CA1 was extremely related to colorectal carcinoma (CRC) prognosis.The 5-year survival rate was only 8％ in the CA1 negative expression group,and the 5-year survival rate of the patients with CA1 positive expression was 92.86％ (P ＜ 0.01).Conclusions CA1 had the similar expression patterns at genetic and protein levels.In the colorectal cancer tissue,the expression of CA1 was downregulated and even missing.CA1 had significantly lower expression level in the advanced colorectal cancers with metastasis and poorly differentiated colorectal cancer tissues.The patients with lower CA1 expression level had the worse prognosis.

Objective To study the impact of severe idiopathic pulmonary arterial hypertension (IPAH) on pregnancy outcome and to investigate the effect of multidisciplinary approach during pregnancy on the pregnancy outcome in pregnant woman with severe IPAH.Methods Between March 2007 and November 2013,10 pregnant women with severe IPAH undergoing treatment in Beijing Anzhen Hospital were studied retrospectively.Hemodynamic measurements,medical therapy,manner of delivery,anesthetic administration,multidisciplinary management and outcomes were assessed.Results All 10 cases were first diagnosed at the mean of (24 ± 3) weeks during the pregnancy.The systolic pulmonary artery pressure (sPAP) estimated by transthoracic echocardiography was (95.6 ± 1.3) mmHg (1 mmHg =0.133 kPa).Seven cases of class Ⅲ and 3 cases of class Ⅳ were recorded by World Health Organization functional class.One patient underwent pregnancy termination at gestational age of 21 weeks with no maternal death or complications,nine patients continued pregnancy and all the patients underwent cesarean section.The mean pregnancy length was (31 ± 5) weeks.Nine had cesarean deliveries during continuous epidural anesthesia,and one during general anesthesia.There were three maternal deaths in hospital (5,2,3 days postpartum),and seven patients were alive,and the average hospitalization days was (8 ± 4) days.One fetus lost with cesarean section.Two were term delivery,and seven cases were premature delivery.The average weight is (1 948 ± 731) g and nine were alive and no malformation.Conclusions Because of maternal mortality in patients with severe IPAH remains prohibitively high,patients should continue to be counseled to avoid pregnancy.Women with severe IPAH who become pregnancy should be followed by multidisciplinary approach,and cesarean deliveries during continuous epidural anesthesia are a relatively safe way for pregnancy termination in patients with severe IPAH.

The gait rehabilitation robots for stroke are responding to the development of the understanding of stroke rehabilitation, but still some challenges for application may be faced to, as found in AutoAmbulator. Some advices were dicussed from the view of the practice.

The morbidity of scoliosis in adolescents in China is about 3%-5%, 80%-85% of the patients are adolescent idiopathic scoliosis (AIS), whose etiology is unknown. Scoliosis is a structural spine disease occurring during puberty or before skeletal maturation. Scoliosis has a greatly negative impacton not only the growth and development of adolescent spine, but also the mental health of adolescents. Ocular disease is a common clinical disease in which the eye ball and its accessory structures have structural abnormalitiesordys function. Ocular disease snotonly bring in convenience to patients's life, but also may induce diseases in other organs. Recent studies have shown that various ocular diseases may have a potential impact on scoliosis, and quite a fewof patients with certain ocular diseases have higher incidence rate of scoliosis. Therefore, in this article, the etiological relationship between eye diseases and scoliosis will be summarized, which provides guidance and direction for the etiological research of scoliosis and eye diseases. After sorting out, we found that the relationship between ophthalmic diseases and scoliosis mainly concentrated in the following four aspects: choroidal thickness and scoliosis, Goldenhar syndrome, gene level and strabismus. Among them, the genetic relationship is the most complex, about 40 kinds of gene or chromosome abnormalities have been found to cause ocular diseases and scoliosis; Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, first revealed the relationship between ocular diseases and scoliosis, but the current statistical relationship is still very vague. There are few studies on choroidal thickness and strabismus at home and abroad, which are statistical studies, only revealing the relationship between choroidal thickness and scoliosis, and there are many defects in the study of choroidal thickness, which need further research.

Objective To explore the effect of action verb processing on the excitability of the motor cortex and any effect on the upper limb motor function of stroke survivors.Methods Experiment 1:The motor evoked potential by transcranial magnetic stimulation (TMS-MEP) was measured while 18 healthy subjects were processing concrete action verbs or abstract verbs.Experiment 2:Eight hemiplegic stroke survivors were asked to read silently text describing concrete hand actions,and then repeat and explain the meaning of the action verbs used in the text.This was repeated for 30 minutes per day,5 days per week for 3 weeks.In the 2nd week the same training was conducted except that the text was about abstract verbs.The modified Ashworth scale (MAS),Fugl-Meyer assessment (FMA),the Hong Kong version of the functional test for a hemiplegic upper extremity (FTHUE-HK) and a simple test for evaluating hand function (STEF) were used to assess upper limb motor function before and after the training each week.Results Experiment 1:Processing the concrete action verbs induced significantly greater MEP than processing the abstract verbs.Experiment 2:The average FMA and STEF ratings improved significantly after the training each week.Training with the concrete action verbs resulted in significantly better FMA and STEF scores than with the abstract verbs.The average MAS score increased significantly week by week.There was significantly more improvement in the average FTHUE-HK rating after the 1st and 3rd week of training than after the 2nd week.Conclusion Action verb processing induces greater motor cortex excitation than abstract verb processing among healthy subjects and better improves the upper limb motor function of stroke survivors.

[Abstrict]Objective To explore the key points and clinical value of combined direct and indirect extracranial-in?tracranial (EC-IC) bypass in patients with adult moyamoya disease. Methods Retrospective analysis of combined revas?cularization surgery in 25 adult patients with moyamoya disease. The frontal branch and parietal branch of the superficial temporal artery (STA) were dissected. Combined revascularization surgery consisted of direct (anastomosis between the su?perficial temporal artery and cortical branch of the middle cerebral artery) and indirect (encephalodurogaleosynan-giosis EDAS) surgeries. Clinical status was evaluated using the modified Rankin Scale and NIHSS score at 1 day before, 1 week and 3 months after surgery. Results Thirty lateralities were successfully performed on 25 patients. Postoperative angiogra?phy or CTA and cranial computer tomography perfusion imaging(CTP) were conducted to examine the patency of the di?rect anastomosis and cerebral blood flow in 23 patientswithin 1 weeks after surgery . The results showed that the anasto?motic vascular patency was excellent and the cerebral blood flow increased in parallel to the relief of the patients’s isch?emic symptoms. The median mRS scores were 3 (1,3) before surgery, 2 (1,3) 1 week and 1 (0,3) 1 month after surgery.The median mRS scores were significantly improved (Z=15.14, P<0.01). The median NIHSS scores was 5 (4,8) preopera?tively and 4(2,7) postoperation 1 week and 3(1,4) 3 months. The median NIHSS scores were also significantly improved (Z=11.36, P<0.01). Unfortunately, two patients had complication and left hemiparesis. One patient complicated with con?tralateral hemisphere infarction and the another one complicated with ipsilateral hemispheric hemorrhage after operation. Conclusions Combined revascularization surgery may result in satisfying improvement in clinical, angiographic, and he?modynamic states and prevention of recurrent stroke. The stabilized hemodynamic is the key point in peroperative period for moyamoya patients.

Objective:To summarize the clinical manifestations of Autosomal dominant complex neurodevelopmental disorders due to variants of EEF1A2 gene and explore their pathogenic mechanisms. Methods:A child who had visited Luoyang Maternal and Child Health Care Hospital in July 2021 for global developmental delay was selected as the study subject. Clinical data of the child was reviewed. The child was subjected to whole exome sequencing, and relevant literature was reviewed. This study has been approved by the Medical Ethics Committee of Luoyang Maternal and Child Health Care Hospital (No. YCCZ-KS-KY-2021-03).Results:The patient, a 2-year-and-4-month-old girl, had presented with global developmental delay, gait instability, low limb muscle strength, and absence language development. Her parents were both healthy and denied relevant family history. Genetic testing revealed that she has harbored a de novo heterozygous c. 44A>G (p.H15R) missense variant of the EEF1A2 gene (NM_001958.5), which was unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was rated as pathogenic. Conclusion:The c. 44A>G (p.H15R) variant of the EEF1A2 gene probably underlay the pathogenesis in this patient. Above finding has also enriched the mutational spectrum of the EEF1A2 gene.

Objective:To carry out genetic testing on a child diagnosed with Very-long-chain acyl-CoA dehydrogenase deficiency (VLADD) in order to provide a basis for genetic counseling and prenatal diagnosis for his family.Methods:Whole exome sequencing was performed for the proband. Candidate variant sites in the ACADVL gene were verified by Sanger sequencing, and their pathogenicity was predicted based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). Prenatal diagnosis was performed on the fetus upon subsequent pregnancy. This study was approved by Medical Ethics Committe of the Luoyang Maternal and Child Health Care Hospital (Ethics No.LYFY-YCCZ-2021003). Results:The proband was found to harbor compound heterozygous variants of the ACADVL gene, namely c. 1532G>A and 1827+ 2_1827+ 12del, which were inherited from his mother and father, and classified as likely pathogenic and pathogenic, respectively. By combining the clinical manifestations of the proband and the results of blood tandem mass spectrometry and genetic testing, the child was ultimately diagnosed as cardiomyopathy type VLADD. Prenatal diagnosis showed that the fetus has carried the same compound heterozygous variants, and the couple had opted to terminate the pregnancy. Conclusion:The c. 1532G>A/1827+ 2_1827+ 12del compound heterozygous variants of the ACADVL gene probably underlay the pathogenesis of VLADD in this pedigree. The discovery of the 1827+ 2_1827+ 12del variant has enriched the mutational spectrum of the ACADVL gene.

Objective:To observe the activation of cerebral regions during swallowing by magnetoencephalography (MEG), and discuss the temporal and spatial characteristics of neural circuit.Methods:Ten healthy subjects were selected, and the magnetic signals of their brains were recorded using 148 channel full head type MEG system in the magnetic shielding room.Data were analyzed using CURRY8 analysis software and the localization algorithm was based on minimum modulus low resolution electromagnetic imaging method (LORETA). Every 300 ms data were set as an independent analysis stage and made the highest position of the cerebral cortex F-distribution values (F-distributed) as the activation area.The activation areas were analyzed during swallowing through time and space location.Results:Paracentral lobule, anterior central gyrus, medulla oblata, posterior central gyrus, inferior frontal gyrus, parietal lobules, angular gyrus, corpus callosum, middle frontal gyrus, cingulate gyrus, orbital gyrus, thalamus, bottom of third ventricle, corona radiata, precuneus, frontal insula, cerebellopontine angle, superior frontal gyrus and basal ganglia area were activated during swallowing, in which the top eight brain regions were paracentral lobule, anterior central gyrus, corpus callosum, posterior central gyrus, superior parietal lobule, middle frontal gyrus, cingulate gyrus, and basal ganglia.When the 10 subjects performed the deglutition, MEG signals of 8 subjects were mainly activated by the left cerebral hemisphere at 0-300 ms, the bilateral cerebral hemisphere or intermediate region at 301-600 ms, and the right cerebral hemisphere at 601-900 ms.MEG signal of 1 subject was activated by the right cerebral hemisphere at 0-300 ms, and the left cerebral hemisphere at 301-600 ms and 601-900 ms.MEG signal of 1 subject was mainly activated by the right cerebral hemisphere at 0-300 ms and 601-900 ms, and in the intermediate region at 301-600 ms.Conclusion:During swallowing the MEG signals appeared left laterality in the early stage and right laterality in the later stage, and showed a close correlation with time.There may be a swallowing neural circuit composed by the central region, corpus callosum, superior parietal lobule, middle frontal gyrus, cingulate gyrus and basal ganglia, in which the central region is the core.

Objective:To explore the characteristics of phenylalanine hydroxylase ( PAH) gene variants and prenatal diagnosis for 43 Chinese pedigrees affected with Phenylketonuria (PKU). Methods:Forty three PKU pedigrees diagnosed at the First Affiliated Hospital of Zhengzhou University between 2019 and 2021 were selected as the study subjects. Variants of the PAH gene of the probands were screened by high-throughput sequencing, and candidate variants were verified by Sanger sequencing. Negative cases were further analyzed by multiplex ligation-dependent probe amplification (MLPA) to detect large fragment deletions and duplications of the PAH gene. For 43 women undergoing subsequent pregnancy, Sanger sequencing, MLPA, combined with short tandem repeats (STR) sequence-based linkage analysis, were carried out for prenatal diagnosis. Results:Among the 86 alleles carried by the 43 probands, 78 nucleotide variants (90.70%) and 3 large deletions (3.49%) were found based on high-throughput sequencing and MLPA. The 81 mutant alleles had included 21 missense variants, 5 splice site variants, 4 nonsense variants, 2 microdeletions, 1 insertional variant and 2 large fragment deletions. Relatively common variants have included p. Arg243Gln (23.26%), p. Arg111Ter (8.14%), EX6-96A>G (6.98%), p. Val399Val (5.81%) and p. Arg413Pro (4.65%). Most of the variants were located in exons 7, 11, 3, 6 and 12. For the 43 families undergoing prenatal diagnosis, 9 fetuses (20.45%) were diagnosed with PKU, 20 (45.45%) were heterozygous carriers, and 15 (34.09%) did not carry the same pathogenic allele as the proband. All neonates were followed up till 6 months old, and the accuracy of prenatal diagnosis was 100%.Conclusion:The combination of high-throughput sequencing, Sanger sequencing, MLPA and linkage analysis can increase the diagnostic rate of PKU and attain accurate prenatal diagnosis.