Posterior transpedicle instrumental fixation and anterior arthrodesis were performed in 34 patients with spinal tuberculosis.Antituberculous chemotherapy was qiven for nine months postoperatively, and the surgical outcomes were followed up for three to five years.All the patients were cured and there was no recurrence two years after stopping chemotherapy.Tubercular kyphosis was 24?preoperatively and 9?postoperatively, and deformity correction was maintained during the follow up period.Interbody fusion was achieved in all the patients after surgery,four months for one segment fusion, six months for two segments fusion.It is concluded that posterior instrumental stabilization and anterior interbody fusion are helpful in providing rigid stabilization,correcting or preventing progression of kyphosis, and that transpedicle instrumental fixation can accelerate interbody fusion, shorten chemotherapy course and improve its cucative ratio.

This study examined the methylation difference in AIRE and RASSF1A between maternal and placental DNA, and the implication of this difference in the identification of free fetal DNA in maternal plasma and in prenatal diagnosis of trisomy 21. Maternal plasma samples were collected from 388 singleton pregnancies, and placental or chorionic villus tissues from 112 of them. Methylation-specific PCR (MSP) and methylation-sensitive restriction enzyme digestion followed by fluorescent quantitative PCR (MSRE + PCR) were employed to detect the maternal-fetal methylation difference in AIRE and RASSF1A. Diagnosis of trisomy 21 was established according to the ratio of fetal-specific AIRE to RASSF1A in maternal plasma. Both methods confirmed that AIRE and RASSF1A were hypomethylated in maternal blood cells but hypermethylated in placental or chorionic villus tissues. Moreover, the differential methylation for each locus could be seen during the whole pregnant period. The positive rates of fetal AIRE and RASSF1A in maternal plasma were found to be 78.1% and 82.1% by MSP and 94.8% and 96.9% by MSRE + PCR. MSRE + PCR was superior to MSP in the identification of fetal-specific hypermethylated sequences (P<0.05). Based on the data from 266 euploidy pregnancies, the 95% reference interval of the fetal AIRE/RASSF1A ratio in maternal plasma was 0.33-1.77, which was taken as the reference value for determining the numbers of fetal chromosome 21 in 102 pregnancies. The accuracy rate in 98 euploidy pregnancies was 96.9% (95/98). Three of the four trisomy 21 pregnancies were confirmed with this method. It was concluded that hypermethylated AIRE and RASSF1A may serve as fetal-specific markers for the identification of fetal DNA in maternal plasma and may be used for noninvasive prenatal diagnosis of trisomy 21.

Objective:To report the clinical, pathological, electrophysiological and genic characteristics of a patient with familial amyloidosis Finnish type.Methods:The clinical characteristic of a 60-year-old female who admitted to Beijing Tiantan Hospital, Capital Medical University in June 2020 was analyzed. Meanwhile, the patient underwent electrophysiological examination, biopsy of labial gland, rectum and skin and gene sequencing analysis.Results:The patient presented left facial paralysis at the age of 50, right facial paralysis and thickening of lips at the age of 55, dysarthria and dysphagia at the age of 56. Physical examination of the patient showed signs of cranial nerves involvement and skin thinning and smoothness. Slit lamp showed corneal lattice dystrophy. Electrophysiological findings of the patient suggested bilateral carpal tunnel syndrome. Latencies were prolonged in bilateral visual evoked potential P100. The deep sensory conduction pathways in bilateral C 7 to biparietal and T 12 to biparietal cortex were abnormal. Pathology of the three biopsies of the patient showed the presence of amyloid deposition in the basement membrane around the glands. The heterozygous mutation of c.654 G>T in exon 4 of gelsolin (GSN) gene in the patient resulted in Asp187 Tyr mutation (p.D187Y). Conclusions:The patient with familial amyloidosis Finnish type was characterized by slowly progressive multiple group cranial neuropathy accompanied by corneal lattice dystrophy and skin changes. Optic nerve and spinal cord posterior funiculus sensory conduction pathway and D187Y mutation of GSN gene were involved.

OBJECTIVE: To carry out prenatal diagnosis for a fetus with partial 18p deletion detected by non-invasive prenatal testing (NIPT). METHODS: Peripheral blood and amniotic fluid samples of the pregnant woman and her husband were subjected to G-banded chromosomal karyotyping and more accurate chromosomal microarray analysis (CMA). The deletion sites were verified by fluorescence in situ hybridization (FISH) using centromeric probe Cep11 Aqua and telomeric probes Tel11q SO and Tel18 SG. RESULTS: The karyotype of the fetus was determined as 46,XN,del(18)(p11.3). CMA has detected a 6.66 Mb deletion at 18p11.32-p11.31 (136 226-6 796 178). FISH confirmed the presence of a partial deletion at 18p. The mother was found to harbor the same deletion by chromosomal karyotyping as well as CMA analysis. No abnormality was found with the husband. CONCLUSION Although the fetus and its mother have both carried the same 18p deletion, no clinical manifestation was detected in the mother, which may be attributed to a low penetrance of the disorder. The fetus had died at 33 weeks of gestation with unknown cause.
Chromosome Deletion ; Female ; Fetus ; Genetic Testing ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy ; Prenatal Diagnosis

Objective To investigate the mechanisms of lysophosphatidic acid ( LPA ) in stimulating invasion and metastatic colonization of ovarian cancer cells. Methods The metastatic ability in vivo of ovarian cancer SK?OV3, HEY, OVCAR3, and IGROV1 cells was determined in tumor?bearing nude mouse models. Matrigel assay was used to detect the changes of response in vitro of ovarian cancer cells to LPA after Rac( -) or Rac( +) adenovirus treatment. LPA?induced Rho GTPase activation was detected by GST?fusion protein binding assay. Results The peritoneal metastatic colonization assay showed overt metastatic colonization in mice receiving SK?OV3 and HEY cell inoculation, indicating that they are invasive cells. Metastatic colonization was not detected in animals receiving OVCAR3 and IGROV1 cells, indicating that these cells are non?invasive cells. In the matrigel invasion assay, exposure to LPA led to a notably greater migratory response in metastatic SK?OV3 and HEY cells (Optical density:SK?OV3 cells:0. 594 ± 0. 023 vs. 1. 697 ± 0. 049, P<0. 01; HEY cells:0. 804 ± 0. 070 vs. 1. 851 ± 0. 095, P<0. 01). But LPA did little in the non?metastatic OVCAR3 and IGROV1 cells (Optical density A:OVCAR3 cells:0. 336 ± 0. 017 vs. 0. 374 ± 0. 007, P >0. 05;IGROV1 cells: 0. 491 ± 0. 036 vs. 0. 479 ± 0. 061, P >0. 05). LPA migratory responses of ovarian cancer cells were closely related to their metastatic colonization capabilities (r=0.983, P<0.05). Rac( -) blocked the LPA response of invasive SK?OV3 and HEY cells (LPA?induced fold increase of cell migration:SK?OV3 cells:2. 988 ± 0. 095 vs. 0. 997 ± 0. 100,P=0. 01; HEY cells:2. 404 ± 0. 059 vs. 0. 901 ± 0. 072, P=0. 01). But Rac( +) confered the non?invasive cells with LPA response and invasion capability ( LPA?induced fold increase of cell migration: OVCAR3 cells:1. 072 ± 0. 080 vs. 1. 898 ± 0. 078,P <0. 01; IGROV1 cells: 1. 002 ± 0. 044 vs. 2. 141 ± 0. 057, P <0. 05). Among Rho GTPases, only Rac activation was different between ovarian cancer cell lines with different metastatic capability after LPA stimulation: Cdc42 could not be activated in both the invasive and non?invasive cell lines. RhoA could be activated in both the invasive and non?invasive cell lines. Rac could be activated by LPA in the invasive ovarian cancer cell lines. However, Rac could not be activated in the non?invasive cell lines. Conclusion Lysophosphatidic acid stimulates invasion and metastasis of ovarian cancer cells through Rac activation.

Objective To investigate the mechanisms of lysophosphatidic acid ( LPA ) in stimulating invasion and metastatic colonization of ovarian cancer cells. Methods The metastatic ability in vivo of ovarian cancer SK?OV3, HEY, OVCAR3, and IGROV1 cells was determined in tumor?bearing nude mouse models. Matrigel assay was used to detect the changes of response in vitro of ovarian cancer cells to LPA after Rac( -) or Rac( +) adenovirus treatment. LPA?induced Rho GTPase activation was detected by GST?fusion protein binding assay. Results The peritoneal metastatic colonization assay showed overt metastatic colonization in mice receiving SK?OV3 and HEY cell inoculation, indicating that they are invasive cells. Metastatic colonization was not detected in animals receiving OVCAR3 and IGROV1 cells, indicating that these cells are non?invasive cells. In the matrigel invasion assay, exposure to LPA led to a notably greater migratory response in metastatic SK?OV3 and HEY cells (Optical density:SK?OV3 cells:0. 594 ± 0. 023 vs. 1. 697 ± 0. 049, P<0. 01; HEY cells:0. 804 ± 0. 070 vs. 1. 851 ± 0. 095, P<0. 01). But LPA did little in the non?metastatic OVCAR3 and IGROV1 cells (Optical density A:OVCAR3 cells:0. 336 ± 0. 017 vs. 0. 374 ± 0. 007, P >0. 05;IGROV1 cells: 0. 491 ± 0. 036 vs. 0. 479 ± 0. 061, P >0. 05). LPA migratory responses of ovarian cancer cells were closely related to their metastatic colonization capabilities (r=0.983, P<0.05). Rac( -) blocked the LPA response of invasive SK?OV3 and HEY cells (LPA?induced fold increase of cell migration:SK?OV3 cells:2. 988 ± 0. 095 vs. 0. 997 ± 0. 100,P=0. 01; HEY cells:2. 404 ± 0. 059 vs. 0. 901 ± 0. 072, P=0. 01). But Rac( +) confered the non?invasive cells with LPA response and invasion capability ( LPA?induced fold increase of cell migration: OVCAR3 cells:1. 072 ± 0. 080 vs. 1. 898 ± 0. 078,P <0. 01; IGROV1 cells: 1. 002 ± 0. 044 vs. 2. 141 ± 0. 057, P <0. 05). Among Rho GTPases, only Rac activation was different between ovarian cancer cell lines with different metastatic capability after LPA stimulation: Cdc42 could not be activated in both the invasive and non?invasive cell lines. RhoA could be activated in both the invasive and non?invasive cell lines. Rac could be activated by LPA in the invasive ovarian cancer cell lines. However, Rac could not be activated in the non?invasive cell lines. Conclusion Lysophosphatidic acid stimulates invasion and metastasis of ovarian cancer cells through Rac activation.

Objective To explore the effects of solution-focused approach on improving preoperative anxiety and depression in colorectal cancer patients, so as to provide evidence for clinical nursing intervention. Methods A total of 120 patients with colorectal cancer admitted from July 2016 to June 2017 were enrolled in this study by purposive sampling method. The patients were numbered according to the order of admission, and randomly divided into the experimental group and the control group, with 60 cases in each group. In the control group, routine nursing intervention was conducted. The observation group was treated with solution-focused approach. Self-rating Anxiety Scale (SAS) and Self-rating Depression Scale (SDS) were applied to assess patients on admission and after intervention. Results The scores of SAS and SDS of the control group were (46.53±9.21) and (34.94±7.62) respectively, which were higher than those of the experimental group (41.11±8.94) and (29.82±6.82), and the differences were statistically significant (t=3.271, 3.878;P<0.01). Conclusions Solution-focused approach can improve the level of preoperative anxiety and depression in patients with colorectal cancer, which is worthy of clinical application.

This study examined the methylation difference in AIRE and RASSF1A between maternal and placental DNA,and the implication of this difference in the identification of free fetal DNA in maternal plasma and in prenatal diagnosis of trisomy 21.Matemal plasma samples were collected from 388 singleton pregnancies,and placental or chorionic villus tissues from 112 of them.Methylation-specific PCR (MSP) and methylation-sensitive restriction enzyme digestion followed by fluorescent quantitative PCR (MSRE + PCR) were employed to detect the maternal-fetal methylation difference in AIRE and RASSF1A.Diagnosis of trisomy 21 was established according to the ratio of fetal-specific AIRE to RASSF1A in matemal plasma.Both methods confirmed that AIRE and RASSF1A were hypomethylated in maternal blood cells but hypermethylated in placental or chorionic villus tissues.Moreover,the differential methylation for each locus could be seen during the whole pregnant period.The positive rates of fetal AIRE and RASSF1A in maternal plasma were found to be 78.1％ and 82.1％ by MSP and 94.8％ and 96.9％ by MSRE + PCR.MSRE + PCR was superior to MSP in the identification of fetal-specific hypermethylated sequences (P＜0.05).Based on the data from 266 euploidy pregnancies,the 95％ reference interval of the fetal AIRE/RASSF1A ratio in maternal plasma was 0.33-1.77,which was taken as the reference value for determining the numbers of fetal chromosome 21 in 102 pregnancies.The accuracy rate in 98 euploidy pregnancies was 96.9％ (95/98).Three of the four trisomy 21 pregnancies were confirmed with this method.It was concluded that hypermethylated AIRE and,RASSF1A may serve as fetal-specific markers for the identification of fetal DNA in maternal plasma and may be used for noninvasive prenatal diagnosis of trisomy 21.

Objective To know the status and characteristics of medication compliance in patients with hypertension in communities , and analyze its influencing factors , so to provide theoretical basis for improving the medication compliance .Methods Totally 166 patients with hypertension in Wuhu communities were selected as the research object by cluster sampling method , then the self-designed general information questionnaire and Morisky medication compliance survey were used to assess the current status of medication compliance of patients, and related factors were analyzed .Results In 166 cases of patients with hypertension in the communities, the average score of Morisky medication compliance was (3.05 ±1.311) points; the medication compliance of 94 cases was good ( 56.6%); and the compliance of 72 cases was poor ( 43.4%) .SPSS 20.0 statistical analysis was used to analyze 16 related factors.The age, whether suffering other diseases , whether have a regular return review , and the satisfaction degree to therapeutic effect were compared between two groups ( P<0.05 ) .Conclusions The government should strengthen the community monitoring of hypertension in community health service centers , closely observe the blood pressure control , and take some intervention measures.

Objective:To summarize the clinical phenotype of patients with developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation.Methods:The clinical data of 4 patients with epileptic encephalopathy caused by SMC1A gene truncating variation from August 2016 to June 2020 were analyzed retrospectively. Related literatures up to October 2021 with the key words "SMC1A" "Developmental and epileptic encephalopathy 85" "SMC1A, epilepsy" and "SMC1A, truncating" in PubMed, CNKI, and Wanfang databases were searched. Relevant literature was summarized and reviewed.Results:These 4 patients were all female. The onset age of seizure were all in the infantile period. They were admitted to the hospital at 3, 2, 11 and 18 months respectively. Focal seizures occurred in all 4 patients, while 1 of them experienced infantile spasm. The characteristic of cluster was observed in all of them with an interval of 14 days to 5.0 months. The seizures were all refractory to different kinds of anti-seizure medications. All 4 patients had severe developmental retardation with microcephaly (head circumference<-2 s). The interictal electroencephalogram (EEG) was characterized by diffuse slow wave. The 4 SMC1A gene variants were p.Gly655fs, p.Glu811fs, p.Arg412fs and p.Ile143fs, all of which were de novo frameshift variation after parental validation. There were another 17 cases with SMC1A gene truncating variation reported in 6 English articles and 1 Chinese article. Among these 21 patients, who were all female, the onset of seizures occurred between 0.5 and 18.0 months of age. Seventeen cases (81%) had the characteristics of cluster attacks, and the intervals of attack cycles were different. Seizure types included generalized tonic-clonic seizure (12 cases (57%)), focal seizure (11 cases(52%)), myoclonic(4 cases(19%)), spasm (4 cases(19%)), atypical absence (3 cases(14%)), tonic seizure (2 cases (10%)), and atonia (1 case(5%)). In addition, 4 cases (19%) had status epilepsy. All patients had moderate to severe mental retardation. Microcephaly was found in all patients. Among 18 cases,EEG in 8 cases had diffuse slow wave background. Brain magnetic resonance imaging (MRI) was normal in 13 cases (62%). Other MRI changes included cerebellar atrophy (3 cases), thin corpus callosum (3 cases), and lateral ventricular enlargement (2 cases). Twenty patients did not respond well to antiepileptic drugs. Conclusions:The clinical phenotypes of patients with epilepsy encephalopathy 85 caused by SMC1A gene truncating variation are characterized by female, early-onset, clustering of seizures, development delay and microcephaly. Diffuse slow waves are shown in interictal EEG in partial. Response to treatment and prognosis are poor.