Objective To find the expression level and the role of ENST00000460164 in luminal A breast cancer.Methods The expression level of ENST00000460164 in breast cancer tissues was detected by RT-qPCR.pll3.7-ENST00000460164-shRNA and empty vector,pll3.7,were transfected into MCF-7 cells.Cell cycle was measured by flow cytometry.Western blot was used to detect the expression of P16INK4A and cyclinD1.Results ENST00000460164 was highly expressed in luminal A breast cancer tissues as compared to the adjacent non-cancer tissues.The knockdown of ENST00000460164 resulted in the G1 cell-cycle arrested,cyclin D1 downregulated and P16INK4A upregulated in MCF-7 cells.Conclusions ENST00000460164 is overexpressed in luminal A breast cancer.ENST00000460164 may control G1/S transition by regulating P16INK4A or cyclin D1 expression.

BACKGROUND:Previous clinical fol ow-up study showed that disc degeneration of adjacent segment after anterior cervical discectomy and fusion was faster than that of artificial cervical disc replacement. Compared with the anterior cervical discectomy and fusion, artificial cervical disc replacement can maintain a good range of motion of replacement segment. Further investigation should be taken to compare the difference between stress and fusion after replacement. OBJECTIVE:To compare the adjacent level discs loads between artificial cervical disc replacement and anterior cervical discectomy and fusion. METHODS:A healthy 30-year-old male volunteer was scanned with CT at the artificial cervical intervertebral disc and anterior cervical plate. Three-dimensional images were reconstructed with Mimics 10.01 and Geomagic Studio.v11 software. Above three-dimensional data were input into the Abaqus6.9 finite element analysis software for meshing, assignment, and stress analysis. Finite element method was used to simulate the stress changes of the adjacent segments after artificial cervical disc replacement and anterior cervical discectomy and fusion. RESULTS AND CONCLUSION:(1) Under the same preload, during anteflexion, posterior extension, and lateroflexion, the disc stress at adjacent segment was significantly larger after anterior cervical discectomy and fusion than normal disc. Compared with normal persons, no significant difference was detected in stress of adjacent segment at anteflexion, posterior extension, and lateroflexion after artificial cervical disc replacement. (2) Compared with artificial cervical disc replacement group, the stress of adjacent segment increased 10.3%-51.6%in the anterior cervical discectomy and fusion group. (3) Finite element analysis showed that the stress was larger in the anterior cervical discectomy and fusion group than in the artificial cervical disc replacement group. With prolonged fol ow-up, compared with the conventional anterior decompression and fusion, artificial cervical disc replacement can better play its protective effect on the adjacent intervertebral disc.

Tong-Mai(TM) granules were composed ofRadix Salviae Miltiorrhizae(Danshen),Rhizoma Chuanxiong(Chuanxiong) andRadix Puerariae(Gegen). It had the effect of activating blood circulation. It had been used to treat ischemic cardio-cerebrovascular diseases in the clinical practice. This research combined serum pharmacochemistry and serum pharmaocology to study the material basis of active components in TM granules. After single or multiple intragastric administrations of TM granules, serum blood samples of rats were collected at different time points. LC-MS/MS method was developed to analyze chemical components of TM in blood serum samples. The cardiomyocyte hypoxia / reoxygenation (H/R) model was used in the evaluation of cardiomyocyte protection by TM. The correlation analysis was also conducted between serum concentration of TM and cardiomyocyte activity. The results showed that 8 components of pueraria flavonoid, 5 components of salvianolic acids and 2 components fromGegen were promptly absorbed and reached their highest concentrations at 5 or 30 min after administration. After 3 times of medication, the serum concentration was obviously higher compared to single medication. The drug-serum of TM showed significant protective effect on the cardiomyocyte H/R injury with dose-effect relationship. Daidzein, lithospermic acid, salvianolic acid A, salvianic acid A and rosmarinic acid presented as the most correlated components linked to the effect of activating blood circulation by TM. The serum pharmacochemistry / serum pharmacology related studies provided references for the verification of material basis of active components in compound Chinese medicine.

Objective To analyze the clinical and electroencephalogram (EEG) characteristics as well as its evolutionary process of Dravet syndrome (DS) in order to improve early diagnosis and appropriate treatment.Methods Fifty patients with DS were studied including onset age, trigger factors, seizure types on different age stages and relationship with EEG characteristics and its evolution process.Results The average age of seizure onset was ( 5.5 ± 1.9 ) months.The fever sensitivity continuously existed in the entire course of disease.In the early stage, generalized tonic-clonic seizures (GTCS) and focal or unilateral seizures were main types.Multi seizure types included myoclonic seizures (MS) and atypical absence occurred later.The onset ages of MS were average (M50) of 16 months.MS never occurred in 26% of the patients.During the first year of life, EEGs were normal in 76% of these patients.The epileptiform discharges only recorded in about 50% of the patients in spite of multi seizure types had presented.After three years ago, both EEG background abnormalities and discharges occurred in more 90% of the all patients.Photosensitivity response with MS occurred in the 28% of 18 patients.Conclusions The clinical and EEG are not parallel progressively process in early stage of DS.The children often express more severe clinical seizures than EEG abnormalities until 2 years of age.Various abnormal EEG manifestation obviously display gradually after 3 years age.Precise recognizing with the clinical and EEG characteristics of DS will help get correct early diagnosis and screen the candidate cases to test SCN1A gene.

Objective To explore the influences of exercise rehabilitation pathway on postoperative rehabilitation exercise effect in patients with craniocerebral injury.Methods A total of 1 52 patients with craniocerebral injury,who admitted in Tangshan Gongren Hospital from July 201 2 to June 201 4,were selected by convenience sampling as objects and were divided according to random number table method into observation group and control group,each with 76 cases.In the control group,patients were given routine postoperative nursing and rehabilitation guidance,while in the observation group,patients,on the basis of routine nursing, were given exercise rehabilitation pathway,which took the patients as the center and develop individualized rehabilitation exercise program.The scores of postoperative rehabilitation exercise compliance scale (PRECS), functional independence measure scale (FIA),modified Barthel index (MBI),the quality of life after traumatic injury (QOLIBRI)were compared between the two groups 4 weeks after the interventions.Results After the interventions,the three dimensions scores of the (observation group in knowledge mastery of PRECS,exercise compliance,actively seeking advice)were (93.5 ±5.3),(92.2 ±5.7)and (91 .6 ±6.1 )points,higher than (87.2 ±6.7),(84.2 ±7.0)and (83.5 ±7.8)points in the control group (t =6.429,7.726,7.1 31 ;P <0.01 );after the interventions,scores in the observation group in motor,cognition,total score of FIA,and in MBI were respectively (78.2 ±7.3),(32.3 ±2.5),(1 1 0.5 ±7.9)and (88.2 ±7.3)points,higher than that in the control group,(73.4 ±9.0),(30.8 ±3.1 ),(1 04.2 ±9.7)and (81 .9 ±9.1 )points,with (t =3.61 1 ,3.284,4.390,4.708;P <0.01 );after the interventions,scores in the observation group in overall feeling,thinking ability,emotion and self-rating,independence and daily life,and interpersonal relationship of QOLIBRI were (65.7 ±6.5),(60.7 ±5.2),(62.1 ±5.8),(61 .4 ±4.5)and (55.7 ±4.5)points,higher than that in the control group,(61 .2 ±7.2),(557.7 ±6.1 ),(59.0 ±6.1 ),(57.6 ±6.3),and (52.9 ± 6.0)points (t =4.044,3.263,3.21 1 ,4.279,3.255;P <0.01 );scores in the observation group in negative feeling,physical condition and distress of QOLIBRI were (38.9 ±5.4),(44.7 ±6.1 ),and (38.2 ± 5.9)points,lower than (43.1 ±6.5),(49.4 ±7.5)and (41 .8 ±7.3)points in the control group (t =4.333,4.238,3.344;P <0.01 ).Conclusions Exercise rehabilitation pathway can improve the compliance of postoperative rehabilitation exercise for patients with craniocerebral injury.The individualized rehabilitation exercise program is beneficial to the rehabilitation of motor function.Quality of life is also improved from aspects of physical condition and mental state.It should be promoted.

OBJECTIVETo study the chemical constituents of the root of Angelica dahurica cv. Qibaizhi.

METHODThe compounds were isolated and purified by the methods of solvent extraction and chromatographic technique, and their structures were identified on the basis of the analyses of spectral data.

RESULTTwenty-seven compounds were obtained and identified as isoimperatorin (1), alloisoimperatorin (2), oxypeucedanin hydrate (3), byakangelicin (4), alloimperatorin (5), beta-sitosterol (6), dibutylphthalate (7), 6-(3,3-dimethylallyloxy) -7-hydroxycoumarin {7-hydroxy-6-[ (3-methyl-2-butenyl) oxy] -coumarin, 8}, xanthotoxol (9), 5-hydroxy-8-methoxypsoralen ( 5-hydroxyxanthotoxin, 10), smyrindiol (11), umbelliferone (12), bergapten (13), imperatorin (14), phellopterin (15), isoimpinellin (16), 6-acyl-7-methoxycoumarin (17), psoralen (18), isoscopletin (19), scoparone (20), xanthotoxin (21), angelol A (22), oxypeucedanin ethanolate (oxypeucedanin hydrate-3"-ethyl ether, 23), dehydrogeijerin (pablohopin, 24) , ulopterol (25), heraclenol (26), and pabulenol (27), respectively.

CONCLUSIONCompound 8 was a new natural product and the above-mentioned all the compounds except for compounds 1, 3 and 14 were isolated from the root of A. dahurica cv. Qibaizhi for the first time.

Angelica ; chemistry ; China ; Coumarins ; chemistry ; isolation & purification ; Drugs, Chinese Herbal ; chemistry ; isolation & purification ; Furocoumarins ; chemistry ; isolation & purification ; Molecular Structure ; Plant Roots ; chemistry

OBJECTIVETo identify the mutation of the GABA(A)-receptor gamma 2 subunit gene (GABRG2) in a Chinese family with generalized epilepsy with febrile seizures plus (GEFS+ ) and analyze the genotype-phenotype correlations and its inheritance.

METHODSGenomic DNA was extracted from peripheral blood lymphocytes of the proband and other available members in the GEFS+ family. The coding regions and flanking intronic regions of the GABRG2 gene were screened for mutations using polymerase chain reaction (PCR) and direct DNA sequencing.

RESULTSThere were 7 affected members in the three-generation family, in which one with febrile seizures (FS) and six with febrile seizures plus (FS+ ). This family was consistent with the diagnostic criteria of GEFS+ . The nonsense mutation c.1287G to A (p.W390X) in the GABRG2 gene was initially identified in the proband. Seven affected members (6 FS+ and 1 FS) and one unaffected member carried the mutation. The nonsense mutation c.1287G to A/p.W390X in the GABRG2 gene was co-segregated with the GEFS+ family. The penetrance rate was about 87.5%(7/8).

CONCLUSIONThis GEFS+ family was consistent with autosomal dominant inheritance with incomplete penetrance. GABRG2 mutation is also a disease-causing mutation in Chinese GEFS+ patients. The p.W390X mutation has not been reported previously.

Amino Acid Sequence ; Animals ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Conserved Sequence ; DNA Mutational Analysis ; Epilepsy, Generalized ; complications ; genetics ; Exons ; genetics ; Genotype ; Humans ; Male ; Molecular Sequence Data ; Pedigree ; Phenotype ; Receptors, GABA-A ; chemistry ; genetics ; Seizures, Febrile ; complications ; genetics

Objective:To summarize the clinical characteristics and genetic features of tyrosine hydroxylase deficiency(THD) caused by TH gene variants for the improvement of the understanding of the disease. Methods:The clinical and genetic data of 33 children with THD caused by TH gene variants were diagnosed in the Department of Neurology of Beijing Children′s Hospital, Capital Medical University from May 2011 to January 2020 and their data were retrospectively collected and analyzed. Results:There were 19 females and 14 males.The age at onset was ranged from 0 to 6.3 years.13 patients developed diseases, accompanied with fever after infection, and 1 patient suffered from hypoxia, 19 patients suffered from no predisposing factors.There were 7 mild TH-deficient dopa-responsive dystonia cases, 16 severe TH-deficient infantile parkinsonism with motor delay cases and 10 very severe TH-deficient progressive infantile encephalopathy cases.Clinical symptoms were fluctuating, including 26 cases of diurnal fluctuation, 22 cases of infection aggravation, and 30 cases of fatigue aggravation.The initial symptoms included tiptoeing and numbness in the limbs(7 cases), motor development retardation or degression (26 cases), fremitus (8 cases), ptosis (2 cases), and status dystonicus (3 cases). Other clinical features had hypermyotonia (23 cases), hypomyotonia (27 cases), decreased movement (27 cases), decreased facial expression (24 cases), fremitus (18 cases), tiptoeing (20 cases), talipes equinovarus (7 cases), ptosis (8 cases), oculogyric crisis (10 cases), salivation (21 cases), dysphagia (12 cases), dysarthria (16 cases), dyspnea (3 cases), increased sleep (10 cases), decreased sleep (5 cases), irritable mood (15 cases), apathetic mood (2 cases), profuse sweating (8 cases), and status dystonicus (6 cases). A total of 6 patients′ right limbs were more severe, and 14 patients′ lower limbs were more severe.Eight patients had family history, and Levodopa treatment was effective for all patients.Ten patients suffered side effects, including dyskinesia and irritability.Four patients were lost follow-up, and 29 patients were followed up between 0.8 and 13.2 years old until Ja-nuary 2020.Totally, 22 patients almost had no such symptoms.Twenty-five TH gene pathogenic variants were discovered in 33 patients.There were 13 novel variants (c.1160T>C, c.1303T>C, c.887G>A, c.1084G>A, c.1097A>T, c.734G>T, c.907C>G, c.588G>T, c.992T>G, c.755G>A, c.184-6C>T, c.1510C>T, c.910G>A) and 2 patients had c. 910G>A variant.Meanwhile, there were 5 hot variants [c.698G>A(13 cases), c.457C>T(9 cases), c.739G>A(6 cases), c.1481C>T(4 cases), c.694C>T(3 cases)]. c.910G>A(2 cases) may be the foun-der variant of Chinese population. Conclusions:THD caused by TH gene variant mostly onsets from infant, with complex clinical features.Most of these patients were severe, and only a few were very severe and mild.Very severe and mild symptoms were easily misdiagnosed.Levodopa treatment was obviously effective.A possible founder variant of Chinese population (c.910G>A) was found.c.698G>A and c. 457C>T mutations mainly appeared in patients with severe and extremely severe THD, while c. 739G>A mainly appeared in patients with mild THD.

Objective:To evaluate the improved efficacy of transversus abdominal plane (TAP)-rectus sheath (RS) block combined with general anesthesia in the patients undergoing laparoscopic pancreaticoduodenectomy.Methods:Fifty-six American Society of Anesthesiologists physical status Ⅰ-Ⅲ patients of both sexes, aged 45-64 yr, with body mass index of 18-25 kg/m 2, scheduled for elective laparoscopic pancreaticoduodenectomy, were divided into 2 groups ( n=28 each) using a random number table method: general anesthesia group (group G) and TAP-RS block plus general anesthesia group (group TRG). In group TRG, after induction of general anesthesia, bilateral TAP-RS block was performed with 0.375% ropivacaine mixed with 0.5 μg/kg dexmedetomidine under ultrasound guidance, 20 ml was injected into the plane of bilateral transverse abdominis, and 10 ml was injected into the posterior sheath of the bilateral rectus abdominis, and the tube was placed on the plane of the transverse abdominis, and 5 ml/h was continuously pumped after operation.In both groups, anesthesia was induced with IV midazolam, sufentanil, etomiddate and cisatracurium besylate and maintained using combined intravenous-inhalational anesthesia, and patient-controlled intravenous analgesia (PCIA) was performed after operation.Pulmonary function indexes were measured before induction of anesthesia (T 0) and at 6, 12 and 24 h after removal of the tracheal tube (T 1-3). Blood gas analysis was performed at T 0, T 2 and T 3.The occurrence of high/low blood pressure, tachycardia/bradycardia, consumption of opioids, PACU stay time, pressing times of PCIA within 24 h after surgery, rescue analgesia, time of passing the first flatus, the first postoperative off-bed time, length of postoperative hospital stay, and 48 h quality of recovery-40 (QoR-40) were recorded.The occurrence of adverse reactions and nerve block-related complications were recorded within 48 h after operation. Results:Conversion to laparotomy during operation was found in 4 patients, changing the scope of resection in 2 patients, and a total of 50 patients were enrolled in this study.Compared with group G, the pressing times of PCIA was significantly reduced, the requirement for postoperative rescue analgesia was decreased, the intraoperative consumption of sufentanil and remifentanil was reduced, the incidence of intraoperative hypertension and tachycardia was decreased, the FEV1, FVC and PEFR were increased at T 2, 3, the 48 h QoR-40 score was increased, the time of passing the first flatus, the first postoperative off-bed time, and length of postoperative hospital stay were shortened, the incidence of nausea, agitation, somnolence, and hypoxemia was decreased ( P<0.05), and no significant change was found in the indicators of blood gas analysis at each time point in group TRG ( P>0.05). Nerve block-related complications were not found in group TRG. Conclusion:Compared with general anesthesia alone, TAP-RS block combined with general anesthesia is helpful in carrying out anesthetic model of low-consumption opioids and improving the quality of early postoperative recovery when used in the patients undergoing laparoscopic pancreaticoduodenectomy.