BACKGROUND:Upright rat intervertebral disc degeneration model can prove that intervertebral fusion can aggravate the adjacent-segment intervertebral disc degeneration, but cannot affirm that spinal non-fusion technology has more advantages. OBJECTIVE:Base on the affirmed intervertebral disc degeneration models of Beagle dog, we performed intervertebral fusion to affirm whether or not the intervertebral fusion can aggravate the adjacent-segment intervertebral disc degeneration. METHODS:Twelve Beagle dogs were randomly divided into two groups. The control group animals were stabbed percutaneous to injure L5/6 disc. The experimental group animals were stabbed percutaneous to injur L5/6 disc. One month later, we made L4/5 intervertebral fusion. At 3 and 6 months postoperatively, lumbar MRI was conducted. L5/6 discs were harvested and subjected to histological observation and PCR. RESULTS AND CONCLUSION:(1) MRI:in the experimental group, 3 and 6 months after fusion, different degrees of intervertebral disk herniation appeared. In the control group, no obvious intervertebral disk herniation appeared. (2) Histological observation:6 months after fusion, in the experimental group, intervertebral disc annulus and nucleus pulposus were disordered;there was a gap in the fold, and the number of nucleus pulposus cel s decreased. In the control group, nucleus pulposus and anulus fibrosus boundary was clear;col agen was loose and arranged regularly. Cel number was more. Anulus fibrosus was close to normal. Col agen fibers were regular and dense. In the experimental group, 3 and 6 months after fusion, type II col agen-positive cel s were less than the control group (P<0.05). Moreover, type II col agen-positive cel s were less at 6 months than at 3 months in the experimental group (P<0.05). (3) PCR:Bone morphogenetic protein 15 and tissue inhibitor of matrix metal oproteinase 1 gene expression was higher in the experimental group than in the control group at 3 and 6 months after fusion (P<0.05). Bone morphogenetic protein 15 and tissue inhibitor of matrix metal oproteinase 1 gene expression was higher in the experimental group at 6 months than that at 3 months (P<0.05). (4) These results suggest that intervertebral fusion can aggravate the adjacent-segment intervertebral disc degeneration.

Objective:To analyze the clinical characteristics and SLC25A13 gene mutation in children with neonatal intrahepatic cholestasis caused by citrin deficiency(NICCD).Methods:The data of 18 children diagnosed with NICCD in Xi′an Children′s Hospital from January 2014 to December 2018 were collected.The clinical manifestations, biochemical characteristics, SLC25A13 gene mutation and prognosis were analyzed.Results:All the 18 cases of NICCD were from North China and the age of initial diagnosis averaged(63.4±19.5)days.The clinical manifestations included jaundice(100%), light yellow or white stool(38.9%), growth retardation(27.8%)and so on.All patients had cholestasis.Of 18 cases, the levels of glutamyltranspeptidase, total bile acid and alpha fetoprotein were all increased, and serum albumin was decreased.Elevated aspartate aminotransferase(94.4%), elevated glutamic pyruvic transaminase(72.2%), prolonged prothrombin time(88.9%), hyperlactemia(83.3%), hypoglycemia(77.8%), anemia(66.7%)and other biochemical abnormalities were observed.Citrulline and other serum amino acids of all cases were elevated in blood samples by tandem mass spectrometry.The increase of 4-hydroxyphenyllactate and 4-hydroxyphenylpyruvate was found in 70%(7/10)urine samples by gas chromatography.Age was negatively correlated with total bile acid( r=-0.469, P=0.049), and positively correlated with blood ammonia, threonine, methionine, ornithine and tyrosine( r=0.472, 0.690, 0.698, 0.678 and 0.769, respectively, P<0.05). A total of 16 SLC25A13 gene mutations were detected, of them c. 851_854del(33.3%)and c. 1638_1660dup(19.4%)were the most common.c.1841+ 3_1841+ 4del, c.980_981del(p.E327Vfs*45)and c. 602A>T(p.E201V)were novel mutations.Among the 17 children who were followed up, 1 case died and 16 cases had normal biochemical parameters within 1 year. Conclusion:The characteristic biochemical changes are helpful for early recognition of NICCD.The prognosis of NICCD is good if the treatment is appropriate and timely.c.851_854del and c. 1638_1660dup are high-frequency mutations of SLC25A13 gene in north China.

OBJECTIVE: To explore the genetic basis of a pedigree affected with Alagille syndrome (ALGS). METHODS: Targeted capture and next generation sequencing was carried out for the proband. Candidate variants were verified by Sanger sequencing among his family members. Their pathogenicity of the variant was predicted with bioinformatic analysis. Clinical characteristics and genotype-phenotype correlation were analyzed. RESULTS: The proband, his elder sister and mother were found to carry a heterozygous c.1270dupG (p.Ala424Glyfs*5) variant of the JAG1 gene, which may lead to premature termination of translation and a truncated protein with loss of function. The variant was unreported previously. The phenotypes of the proband (cholestasis, pulmonary artery stenosis and peculiar faces) have differed from those of his elder sister (cholestasis with pruritus, posterior embryonic ring of cornea) and mother (with no clinical manifestation). Cholestasis and peculiar face of the proband became insignificant with age. CONCLUSION The c.1270dupG (p.Ala424Glyfs*5) variant of the JAG1 gene probably underlay the ALGS in this pedigree with incomplete penetrance.
Aged ; Alagille Syndrome/genetics* ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Pedigree ; Phenotype

Objective To analyze the effectiveness and safety of percutaneous screw fixation assisted by an orthopedic robot for treatment of pelvic and acetabular fractures.Methods Fifteen patients with fresh closed pelvic or acetabular fracture were hospitalized from September to December 2017 at Department of Orthopaedics,Foshan Hospital of Traditional Chinese Medicine.They were 10 men and 5 women,from 22 to 69 years of age (average,65.2 years).There were 9 pelvic fractures (5 cases of Tile type B and 4 ones of Tile type C) and 6 acetabular fractures (3 anterior column fractures,2 posterior column fractures and one transverse fracture).All patients underwent percutaneous transpedicular screw fixation with the assistance of an orthopaedic robot.Fluoroscopic frequency,number of guide needle adjustment and deviation between initial planning and the final screw position were recorded intraoperatively.Postoperative CT was performed to evaluate screw positions and incidence of adverse events.Functional recovery in the patients was evaluated in regular follow-ups.Results A total of 26 screws were implanted in the operation.The fluoroscopic frequency ranged from 12 to 49 times,with a mean value of 17.3 times per screw;the number of needle adjustment ranged from 0 to 2 times(mean,0.3 times);the deviation of the actual path from its initial planning ranged from 0.82 to 1.42 mm (mean,1.06 mm).No surgery-related neurovascular injury occurred in any patient.Postoperative CT examination revealed that no screws cut out of cortical bone,yielding a 100％ rate of excellent and good screw positions.Two patients were lost to the follow-up,and the remaining 13 patients were followed up for 12 to 14 months (mean,12.6 months).Their Majeed functional scores at the final follow-up averaged 88.6 points (from 68 to 96 points).No neurological symptoms were observed during follow-up.Conclusion Since percutaneous screw fixation assisted by an orthopaedic robot is accurate and safe and needs less fluoroscopic frequency,it will became a major minimally invasive surgical technique for pelvic and acetabular fractures.

Ventilator-associated pneumonia (VAP) is one of the most common infectious diseases in patients undergoing mechanical ventilation in intensive care unit (ICU). Although the use of closed sputum suction tube for sputum suction is the most common nursing measure for patients with tracheal intubation in ICU, and it is also an important measure to reduce the occurrence of VAP, the existing clinical technology still needs to use external flushing solution for humidification and flushing. In the process of use, the flushing operation has the risk that the amount of flushing fluid cannot be controlled, resulting in a large amount of flushing fluid entering the patient's airway, causing the patient to suffocate. The sputum attached to the wall of the sputum suction tube cannot be completely flushed, and the prolonged retention of the sputum leads to the proliferation of colonized bacteria, aggravating the infection of patients. Repeated pipe flushing not only increases consumables, but also increases the workload of medical staff. For this reason, the author has designed a fully enclosed sputum suction tube flushing device, which has obtained the National Utility Model Patent of China (patent number: CN 2019 2 1198740.5). This device is an integrated design, and the materials used for sputum suction, humidification and flushing are fully enclosed, without air exposure, and can be operated strictly without bacteria. Pulse flushing with syringe can clean the sputum attached to the inner wall and reduce the incidence of VAP. The volume of flushing fluid can be effectively controlled during use to ensure patient safety and reduce waste. It is worth popularizing and applying in clinical practice to optimize the operation steps and reduce the workload of medical staff.

We reviewed the data of an 18-year-old male patient complained of weakness of limbs and hypokalemia for 6 months. CT scan revealed left adrenal adenoma. He was diagnosed as primary aldosteronism(PA). Laboratory tests showed hypokalemia and hyperaldosteronemia. After potassium supplement and blood pressure lowering treatment, laparoscopic resection of the left adrenal adenoma was performed, and severe hyperkalemia occured 2 hours after surgery(maximum serum potassium 7.02 mmol/L). After hyperrisotonic glucose+ insulin(10% glucose 200 ml+ 50% glucose 40 ml+ insulin 8U)+ cation exchange resin(Sodium Polystyrene Sulfonate 20 g) treatment, serum potassium returned to normal range within 12 hours. The plasma aldosterone, blood potassium and blood pressure returned to normal during the 5-month follow-up. According to the experience of this case report, after resection of aldosteronoma, the changes of serum electrolyte should be closely monitored, the occurrence of hyperkalemia should be vigilant.

OBJECTIVETo understand the age distribution of pertussis patients admitted in the children hospital and to analyze the source of infection as well as its transmission patterns.

METHODSPatients visiting to the Children Hospital and epidemiologically related cases during Feb. 2012 to Aug. 2013 were tested to confirm the diagnosis. Excel 2007 software was used to analyze the age distribution and clinical symptoms of clinic cases, the source of infection or subsequent cases.

RESULTS165 out of 254 clinically suspicious pertussis cases and 38 out of the 54 epidemiologically related cases were confirmed of having pertussis infection. There were 138 (83.6%) cases under 1 year of age in the confirmed clinical cases and 36 (94.7%) cases older than 20 years of age among the confirmed epidemiologically related pertussis cases. All the confirmed epidemiologically related cases were misdiagnosed or missed for diagnosis. As the source of pertussis infection in confirmed clinical cases, parents played an imported role among 25 of the 32 cases. Transmission from infants and/or little children to adults were also observed in this study.

CONCLUSIONInfants accounted for the most among the pertussis patients that visiting the clinics. Adults, being misdiagnosed or missed diagnosed, were the main sources of infection to infants. Epidemics of pertussis occurred under family aggregation. Further study was in need to develop the proper strategy for pertussis booster vaccination.

Adult ; Age Distribution ; Child ; Child, Preschool ; Delayed Diagnosis ; Diagnostic Errors ; Family ; Humans ; Infant ; Whooping Cough ; epidemiology ; transmission