2018年 · 第98卷第26期

Second-generation sequencing (NGS), also known as large-scale parallel sequencing, can sequence millions or even billions of DNA molecules at the same time, achieving the goal of large-scale and high-throughput sequencing, and is a revolutionary progress after Sanger sequencing. At present, in clinical tumor practice, NGS is mainly used to drive gene sequencing, which is an important link in accurate diagnosis and treatment of tumors. On September 17th, 2015, the Chinese Society of Clinical Oncology convened China's representative oncologists, pathology and molecular biology experts and NGS technical experts in Xiamen, established the China Tumor Driven Gene Analysis Alliance (CAGC) and launched the Precision Oncology Research Project (CAGC-POI), which established the organizational framework and content framework of the overall project. The first phase of the CAGC-POI program plans to carry out driver gene profiling based on NGS technology in malignant diseases such as lung cancer, breast cancer, liver cancer, gastric cancer, colorectal cancer and hematopoietic tumors on the basis of preliminary consensus on clinical application of NGS technology. On the basis of the above consensus establishment, the analysis and verification of the variation spectrum of the main six tumor types, and the optimization process, the corresponding practical and experimental research on targeted precise diagnosis and treatment will be carried out in patients with clinically targetable driver genes. Finally, the technical standards and norms of NGS suitable for clinical oncology practice in China are put forward, so as to improve the quality and ability of service for tumor patients.

Helicobacter pylori (Helicobacter pylori，H.pylori) is closely related to the occurrence and development of chronic gastritis, peptic ulcer, gastric cancer and gastric mucosa-associated lymphoid tissue (MALT) lymphoma. In 1994, Helicobacter pylori was listed as a class I carcinogen of gastric cancer by the World Health Organization. The occurrence of gastric cancer is closely related to Helicobacter pylori infection, and the eradication of Helicobacter pylori can reduce the incidence of gastric cancer. China is a country with high infection rate of Helicobacter pylori and high incidence of gastric cancer. Helicobacter pylori infection is not only a clinical problem, but also a major health management problem at the public health level. The formulation of its consensus has great practical significance for the prevention and treatment of Helicobacter pylori-related diseases in China.

A 25-year-old female was admitted to the Department of Nephrology, Peking University First Hospital on April 17, 2017 due to "microscopic hematuria for 2 months and edema for 2 weeks". Patient 2 months ago (pregnant 16^＋1Week) was examined at the local hospital and showed urine red blood cells + and urine protein negative; One month ago, urine red blood cells + + +, urine white blood cells + +, and urine protein were negative. Two weeks ago (22 weeks of pregnancy), bilateral ankle edema began to appear, and gradually spread to the lumbosacral region, accompanied by chest tightness, asthma, abdominal distension, anorexia, and decreased urine output. 1 week ago, urine routine reexamination showed urine protein + + + and red blood cells + + +; Serum albumin (Alb) was 21 g/L, serum creatinine (Scr) was 80 μ mol/L, serum potassium was 5.7 mmol/L, and urinary tract ultrasound showed that both kidneys were slightly enlarged, but the renal pelvis and ureter were not dilated. Blood biochemistry was re-examined 5 days ago: Alb 20.2 g/L, Scr 113.5 μ mol/L (44-106 μ mol/L), and serum potassium 5.4 mmol/L. The local hospital recommended termination of pregnancy, but the patient and family refused. He went to the outpatient clinic of our hospital 3 days ago and was admitted to the hospital with "nephrotic syndrome, acute kidney injury (AKI)". The patient gained about 15 kg in 2 weeks. Deny fever, rash, mouth ulcer, macroscopic hematuria, increased blood pressure. Past history: Pain in both knees, elbows and interphalangeal joints occurred 1 year ago when the weather changed. Six months ago, after catching cold, the fingertips became cold and white, which was relieved after exposure to heat. History of kidney disease denied. Married, last menstruation 31 October 2016, regular prenatal check-up, pregnant 12^＋1No abnormalities were found in the weekly urine routine, and I am 24 weeks pregnant; The fetus developed well as of 1 week ago. Family history of genetic diseases and similar diseases were denied.

A 38-year-old female was admitted to Peking Union Medical College Hospital on January 22, 2017 due to "fever for 4 months, scleral yellowing and shortness of breath for more than 2 months". The patient developed high fever in November 2016, at night, with a maximum body temperature of 39℃, accompanied by mild cough and no phlegm, and denied chills and chills. Local blood test showed 8.43×10 white blood cells⁹/L, hemoglobin 111 g/L, platelets 92×10⁹/L; Liver function: alanine aminotransferase (ALT) 123 U/L, aspartate aminotransferase (AST) 67 U/L; No abnormalities in renal function were seen; Abdominal ultrasound showed cholestasis of the gallbladder and splenomegaly. Treatment with cephalosporin antibiotics was not effective. On December 5th, we went to the outpatient clinic of rheumatology and immunology of Peking Union Medical College Hospital to check urine routine and sediment (-); erythrocyte sedimentation rate (ESR) 92 mm/1 h, high-sensitivity C-reactive protein 7.24 mg/L; Liver and kidney function: total bilirubin, direct bilirubin (-), ALT 129 U/L, AST 102 U/L, lactate dehydrogenase 1 686 U/L, creatinine 75 μ mol/L; antinuclear antibody (+) S1:160; Weakly positive anti-Sjogren's syndrome antigen A antibody; anti-human globulin assay (+); Anticardiolipin antibody 56 PL-IgG-U/ml (normal<12 PL-IgG-U/ml); Anti-beta₂Glycoprotein 1 116 RU/ml (normal<20 RU/ml); lupus anticoagulants, anti-neutrophil cytoplasmic antibodies, and complement were all (−); T-cell SPOT test for tuberculosis infection (T-SPOT.TB) (-). Connective tissue disease was diagnosed, except systemic lupus erythematosus (SLE). On December 12, the patient was given methylprednisolone 16 mg orally, once per 12 h. The patient's symptoms were relieved, his body temperature returned to normal, and the dose was gradually reduced at a rate of 4 mg per week after 1 week. On December 26, the patient developed scleral yellowing and occasionally shortness of breath. Local reexamination blood routine: white blood cells 0.95×10⁹/L, hemoglobin 50 g/L, platelets 40×10⁹/L, reticulocyte ratio 0.13%; Liver function: total bilirubin 314.3 μ mol/L, direct bilirubin 253.1 μ mol/L, ALT 783.3 U/L, AST 1 662 U/L; Hepatitis virus screening all (-); cytomegalovirus (CMV) -IgM (+); Ferritin>1 500 μ g/L. Check the bone marrow smear: active hyperplasia, obvious reduction of erythroid, relatively obvious granulocyte hyperplasia, obvious poisoning granules, plasma cells, reticulum, phagocytic cells are easy to see, phagocytic blood cells can be seen, and atypical lymphocytes can be seen. It is considered that CMV infection causes hepatic impairment and acute hematopoietic arrest. Blood transfusion, ascending white blood cells, and intravenous infusion of human immunoglobulin 20 g once/d for a total of 3 days, and symptomatic liver protection treatment were given at the same time. Bilirubin and liver function were monitored and gradually returned to normal, but the blood routine results did not improve. During the treatment, low fever was intermittent again, with a maximum body temperature of 38 ℃, and shortness of breath gradually worsened. Sputum hexamine silver staining and acid-fast staining were both (-), and chest CT showed patches in the lower lobe of the right lung. Methylprednisolone was restored to 32 mg orally once a day, and cefoperazone/sulbactam and voriconazole were added successively. The patient's fever progressed to daily high fever, with a maximum body temperature of 39.6℃, accompanied by cough and white phlegm, and the activity tolerance gradually deteriorated. Hospitalization for further diagnosis and treatment. Since the onset of the disease, the spirit is weak, the appetite is poor, the sleep is acceptable, the urine and defecation are normal, and the body weight has decreased by about 5 kg. Past history: Diagnosis of premature ovarian failure in 2010. Deny smoking, drinking history, marriage and childbirth history, menstrual history, family history is no different.

The 5-year-old child was admitted to the pediatric department of our hospital on October 12, 2017 due to "headache for 8 days and abnormal movement for 2 days". The child developed headache without obvious trigger 8 days ago, accompanied by vomiting twice after eating, and went to the local hospital for electroencephalogram to show diffuse theta waves. Considered "infectious encephalitis", the symptoms improved after anti-infective treatment. 2 d ago, the corner of the mouth was crooked to the right, the hands were dancing and the nonsense was talking. Half a day ago, the language was reduced, the answer was unable to be answered, and the walking was unsteady, so I was admitted to our hospital. The child has been built in the past and vaccinated on time. The sister and parents are in good health, and they deny a history of mental illness and convulsions in the family.

Early removal of artificial airway is an important measure to reduce the complications associated with mechanical ventilation. Upper airway patency and better airway protection are the key factors affecting the success of artificial airway removal^[1]Among them, the evaluation of cough ability is an important content to judge the strength of airway protection ability, but there is still a lack of consensus opinions or suggestions on standardized evaluation of cough ability of patients with mechanical ventilation in clinical practice. In recent years, scholars have conducted a lot of clinical research and exploration on the evaluation and clinical significance of cough ability of patients with mechanical ventilation. The evaluation and clinical significance of mechanical ventilation, especially the establishment of artificial airway patients' cough ability are described as follows.

Tobacco harm is one of the most serious public health problems in the world today, with about 7 million deaths attributable to smoking every year^[1]。 As the largest tobacco producer and consumer in the world, smoking has a serious impact on our people. If effective tobacco control measures are not adopted, it is estimated that by 2050, the number of deaths caused by smoking-related diseases in China will reach 3 million every year^[2]。 Tobacco dependence is a chronic disease^[3]。 Smoking is associated with chronic respiratory diseases, cardiovascular and cerebrovascular diseases and the occurrence of many kinds of tumors^[3]It also has a certain influence on cognitive function^[4,5]。

cochlear implants (CI), regarded as the most successful neuroprosthesis, are auditory aids that help patients with severe to extremely severe deafness to recover or regain some sound perception. So far, more than 500,000 deaf patients worldwide have regained their hearing through CI implantation^[1]。 The generation of CI electrical stimulation hearing can be divided into three stages: first, the transmission of acoustic information; The second is the reception of electrical stimulation signals; The third is to perceive or understand the information of electrical stimulation^[2]。 Researchers have paid more and more attention to the help of auditory training to improve the perception of electrical stimulation by CI implants, and further understood and understood the correlation between nervous center and individual performance of CI implants through the study of plasticity of auditory central system. This paper summarizes the status of music perception, music training and its related influencing factors, and the development and adaptation of auditory center of CI implants, aiming to provide reference for the follow-up auditory training research and the objective evaluation method of music perception and training effect.