Objective To investigate the characteristics of personal injuries in motorcycle accidents in Chongqing area to provide the reliable information and reference basis for reducing the injury and death risk of the motorcycle accidents.Methods Two hundreds and thirteen cases of motorcycle traffic accident occurred in Chongqing area from January 2015 to June 2016 were deeply collected,the collected contents included the basicinformation,driver information and personal injury,etc.Then accident data were statistically analyzed.Results The death rate of motorcycle drivers was higher than that of the pillion passengers.The death causes of craniocerebral injuries and craniocerebral injuries complicating thoracic and abdominal organ injuries accounted for 58.8％ and 20 ％ respectively,the proportions of head and neck,chest and back,lower extremity,upper extremity,abdominal and pelvic part and perineal part MAIS ≥2 were 71％,59％,33％,25％,20％ and 7％ respectively.The perineal injury rate of motorcycle drivers was higher than that of the pillion passengers.The ratio of occurrence rates between lower extremity fracture to upper extremity fracture was 1.8 ∶ 1,the persons in motorcycles-trucks accidents were easier to suffer from vehicle crushing.Conclusion Head and chest injuries are important causes leading to motorcycle drivers and pillion passengers' death and injury.The perineal injury can serve as an important basis for identifying the drivers and pillion passengers in partial motorcycle accidents.

Autoimmunediseasesofthecentralnervoussystem（CNS）aremediatedbyabnormalautoimmunerespon⁃ sesintheCNS.Thepathogenesisofthesediseasesisunknown，whiletheclinicalmanifestationsarediverseandthelack ofeffectivetreatmentmethodsmadethediagnosisandtreatmentgreatchallenges.Alongwiththedevelopmentofbigdata technology，gene，proteomicsaswellasnewimagingtechnologies，ithasbecomepossibletoidentifyindividualbiomark⁃ ersforspecificdisease，explorenewtherapeutictargets，andfinallyachievetheprecisiondiagnosisandindividualtreat⁃ ment.ThepresentarticlewilldiscusstheprecisiondiagnosisandtreatmentofautoimmunediseasesoftheCNSbycombin⁃ ingwiththeworkinourresearchgroup.

Surgery remains the primary treatment for patients with localized gastrointestinal stromal tumor (GIST), however, even after complete resection of the tumor, there is still a part of patients with tumor recurrence and metastasis. Imatinib, as adjuvant therapy in GIST patients with intermediate and high risk of recurrence, can significantly improve the disease-free survival, but whether it can prolong the overall survival is still unknown. It has reached a consensus that the intermediate and high risk patients should receive adjuvant therapy, but the duration for adjuvant therapy is still under investigation, especially for high-risk patients. Adjuvant therapy is recommended for at least 3 years, while in the end of adjuvant therapy, some patients still develop recurrence and metastasis. In 2017, results from PERSIST-5 study reported by the ASCO conference indicated that 5-year adjuvant therapy may further prolong disease-free survival of intermediate and high risk patients. In addition, adjuvant therapy is still not individualized based on the combination with different genotypes, and present adjuvant therapy is recommended for GIST patients with positive CD117 and intermediate-high risk of recurrence. It remains controversial whether different genotypes are associated with alternative adjuvant treatment options. Results of more researches are expected to provide better guidance for clinical treatment in the future.

OBJECTIVETo evaluate antifungal combination strategy in children with hematologic diseases and invasive fungal disease( IFD).

METHODSA retrospective clinical study was performed based on 67 childhood patients with hematologic diseases and IFD who firstly accepted combination antifungal therapy for ≥ 7 days during January 2012 and December 2014. Of them, 11 cases received combination of echinocandin with azole, 10 cases received combination of echinocandin with amphotericin B, and 46 cases received combination of azole with amphotericin B.

RESULTSOverall response rate was 79.1%. Univariate analysis revealed that granulocyte recovery (P=0.031), status of underling disease (P=0.023) and the duration of the therapy (P=0.046) were significantly associated with efficacy. Multivariate analysis showed that the independent prognostic factor was the duration of combination antifungal therapy (OR=0.229, 95% CI 0.061- 0.863, P=0.029). The response rates of echinocandin combined with azole, echinocandin combined with amphotericin B and azole combined with amphotericin B were 81.8%, 60.0% and 82.6%, respectively (P>0.05), and 12-week survival rates were 81.8%, 80.0% and 86.5%, respectively (P>0.05). The drug- related adverse reactions occurred 59 times in 34 patients. BUN increasing, hypokalemia and abnormal liver functions were considered the main side effects.

CONCLUSIONFor IFD in children with hematologic disease, to extend the duration of treatment (≥ 14 days) could significantly improve the curative effect. Combinations of echinocandin with azole, echinocandin with amphotericin B and azole with amphotericin B can be used as a combination treatment options. Combination of Azole with amphotericin B is efficacious, safe and economic treatment option considering efficacy, survival rate, cost and dosage form.

Amphotericin B ; administration & dosage ; therapeutic use ; Antifungal Agents ; administration & dosage ; therapeutic use ; Child ; Drug Therapy, Combination ; Echinocandins ; administration & dosage ; therapeutic use ; Hematologic Diseases ; microbiology ; Humans ; Mycoses ; drug therapy ; Retrospective Studies ; Survival Rate ; Treatment Outcome

OBJECTIVE: To explore the genetic basis for a child suspected for Say-Barber-Biesecker-Young-Simpson syndrome. METHODS: Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing was carried out for the proband. Suspected variants were validated by Sanger sequencing. The impact of the variants was predicted by bioinformatic analysis. RESULTS: The child was found to harbor a de novo missense variant c.2623C>T (p.Asp875Tyr) in exon 13 of the KAT6B gene. The variant was previously unreported, and was not recorded in the major allele frequency database and predicted to be pathogenic based on PolyPhen-2, MutationTaster and PROVEAN analysis. As predicted by UCSF chimera and CASTp software, the variant can severely impact the substrate-binding pocket of histone acetyltransferase, resulting in loss of its enzymatic activity. Based on standards and guidelines by the American College of Medical Genetics and Genomics, the variant was classified to be likely pathogenic (PS2+PM2+PP3). CONCLUSION The child's condition may be attributed to the de novo missense c.2623C>T (p.Asp875Tyr) variant of the KAT6B gene.
Blepharophimosis ; Child ; Congenital Hypothyroidism ; Facies ; Female ; Heart Defects, Congenital ; Histone Acetyltransferases/genetics* ; Humans ; Intellectual Disability ; Joint Instability ; Mutation ; Phenotype

OBJECTIVE: To investigate hidden hearing loss in tinnitus patients with normal audiograms by means of auditory brainstem response (ABR) and explore the origin of tinnitus. METHOD: Pure tone thresholds, ABR thresholds, amplitude of wave I and wave V of ABR were analyzed in 40 tinnitus patients and 15 controls. RESULT: There was no significantly difference in pure tone thresholds and ABR thresholds between those tinnitus patients and controls while a reduced amplitude of wave I and normal amplitude of wave V of ABR in the tinnitus patients became evident. CONCLUSION Tinnitus patients with normal audiograms have hidden hearing loss at the level of primary auditory nerve and the generation of tinnitus is likely attributed to a homeostatic response of neurons in brainstem.
Acoustic Stimulation ; Adolescent ; Adult ; Audiometry, Pure-Tone ; Auditory Threshold ; Case-Control Studies ; Evoked Potentials, Auditory, Brain Stem ; Female ; Hearing Loss ; diagnosis ; physiopathology ; Hearing Tests ; Humans ; Male ; Middle Aged ; Tinnitus ; etiology ; physiopathology ; Young Adult

OBJECTIVE: Tried to find the relationship between tinnitus and each testing method, provided information for objective diagnosis and treatment for tinnitus patients with sensorineural hearing loss. METHOD: The characteristics of audiology tests, including pure tone audiometric, acoustic immittance, middle ear muscle reflexes, matching test, distortion products otoacoustic emission(DPOAE) were compared in 79 ears of 69 tinnitus patients with sensorineural hearing loss. RESULT: The RI positive rate was higher in Convergence curve in tinnitus patients of sensorineural hearing loss, with the rate being 51.3%. The detection rates of DPOAE were 15.2% in patients of sensorineural hearing loss tinnitus groups, which were significant lower than those in control group. CONCLUSION Psychoacoustic techniques can produce a useful amount of clinical data regarding tinnitus in different aspects, these data can help clinicians design needed based managements. DPOAE test is helpful for the diagnosis of lesions in some tinnitus patients.
Audiometry, Pure-Tone ; Hearing Loss, Sensorineural ; complications ; physiopathology ; Hearing Tests ; methods ; Humans ; Otoacoustic Emissions, Spontaneous ; Psychoacoustics ; Tinnitus ; complications ; physiopathology

Organ transplantation is one of the effective methods for the treatment of end-stage diseases, but the lack of donors has hindered the development of organ transplantation. Extracorporeal membrane oxygenation (ECMO) can improve the hypoxia and hypoperfusion of organs, shorten the warm ischemia time, and maintain the function of donor organs effectively, in case of emergency or donor hemodynamic instability. It helps to make effective use of donor organs and benefit patients who are in urgent need of organ transplants. This article summarized the progress on application of ECMO in donor maintenance and provided suggestions for its application in organ transplantation.

Objective: To investigate the efficacy and safety of micafungin (MCF) for pulmonary invasive fungal disease (PIFD) in pediatric patients with acute leukemia or post hematopoietic stem cells transplantation. Method: Twenty-five neutropenic PIFD children with acute leukemia or post hematopoietic stem cells transplantation in Sun Yat-sen Memorial Hospital of Sun Yat-sen University were selected from January 2012 to June 2015, including 12 males and 13 females, age range 2-15 (average 6.2±2.0) years. There were 12 cases of acute leukemia (AL) after chemotherapy, 4 cases of acute leukemia (AL) after allogeneic hematopoietic stem cell transplantation (allo-HSCT) and 9 cases of β-thalassemia major after allo-HSCT. All children received MCM for the treatment of PIFD, the dosage of MCM was 3-4 mg/ (kg·d) , once a day. The children received 2 to 6 courses of treatment, individually with a course of 7 days. 1, 3-β-D glucan assay (G test), galactomannan antigen test (GM test), high-resolution CT and the biochemical indexes for organ functions were closely monitored. Result: Twenty-five cases were diagnosed as PIFD, including 2 patients diagnosed as proven, 6 as probable and 17 as possible. Of the 25 cases, 1 was confirmed aspergillus by biopsy pathology and 1 was candida albicans by blood culture. The G and GM test with positive results was 5 and 2 respectively. Chest CT scans of the 25 cases had obvious lesions: air crescent sign and cavitation in 4 cases, diffuse ground glass change in 9 cases, double lung scattered patchy, small nodules and cord like high density shadow in 7 cases, unilateral or bilateral chest wall wedge-shaped consolidation edge in 5 cases and pleural effusion in 5 patients. The effective rate of MCF in treatment of PIFD was 68% (17/25), including 13 cases cured, 4 cases improved, 4 cases were improved clinically and in 4 cases the treatment was ineffective. Eight cases were effective in MCF monotherapy group (12 cases) and nine were effective in MCF combined therapy group(13 cases), respectively. Side-effects including allergies, gastrointestinal side effects, electrolyte disturbances, impairment of liver and kidney function, and myelosuppression were not found in those children treated with MCF. Conclusion Micafungin is effective and safe in the treatment of pulmonary invasive fungal disease in pediatric patients with acute leukemia or post hematopoietic stem cell transplantation.

OBJECTIVE: To report on a patient with congenital muscular dystrophy (CMD) due to a missense variant of LMNA gene and explore its pathogenicity. METHODS: The 1-year-and-1-month-old boy has presented with motor development delay and elevation of muscle enzymes for more than half a year. Congenital myopathy was suspected. Following muscle biopsy, HE staining, immunostaining and electron microscopy were conducted to clarify the clinical diagnosis. Meanwhile, DNA was extracted from the child and his parents' peripheral venous blood samples. Trio-whole exome sequencing (trio-WES) was carried out to detect pathogenic variant in the child. Candidate variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: Both light and electron microscopy showed a large area of necrotic muscle tissues with infiltration of inflammatory cells. Immunohistochemistry revealed a large amount of muscle cells to be diffusely positive for Dysferlin. The patient's motor delays, elevations of muscle enzymes and histopathological results suggested a clinical diagnosis of CMD. A de novo missense c.1072G>A (p.E358K) variant was detected in the LMNA gene by trio-WES. The variant was unreported previously (PS2) and was absent from major allele frequency databases (PM2). It was a loss of function variant and was considered as hotspot variant in the LMNA gene (PM1) as the amino acid (E), located in position 358, was highly conserved, and change of this amino acid was found to cause destruction of the filament domain (AA: 30-386), which may result in serious damage to the intermediate filament protein. Furthermore, c.1072G>A (p. E358K) in LMNA gene was also predicted to be pathogenic based on MutationTaster, PROVEAN and PolyPhen-2 (PP3) analysis. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG), the variant was classified to be likely pathogenic (PS2+PM1+PM2+PP3). CONCLUSION The child's condition may be attributed to the de novo missense c.1072 G>A (p.E358K) variant of the LMNA gene. Above discovery has expanded the variant spectrum of the LMNA gene.
Gene Frequency ; Genomics ; Humans ; Infant ; Lamin Type A/genetics* ; Male ; Muscular Dystrophies/genetics* ; Mutation ; Whole Exome Sequencing