RESUMEN
OBJECTIVE: To investigate the clinical and laboratory features of very long chain acyl-CoA dehydrogenase deficiency ( VLCADD ) and the correlations between its genotype and phenotype. METHOD: Eleven patients diagnosed as VLCADD of Shanghai Jiaotong University School of Medicine seen from September 2006 to May 2014 were included. There were 9 boys and 2 girls, whose age was 2 d-17 years. Analysis was performed on clinical features, routine laboratory examination, and tandem mass spectrometry (MS-MS) , gas chromatography mass spectrometry (GC-MS) and genetic analysis were conducted. RESULT: All cases had elevated levels of blood tetradecanoylcarnitine (C14:1) recognized as the characteristic biomarker for VLCADD. The eleven patients were classified into three groups: six cases in neonatal onset group, three in infancy onset group form patients and two in late onset group. Neonatal onset patients were characterized by hypoactivity, hypoglycemia shortly after birth. Infancy onset patients presented hepatomegaly and hypoglycemia in infancy. The two adolescent patients showed initial manifestations of exercise intolerance or rhabdomyolysis. Six of the eleven patients died at the age of 2-8 months, including four neonatal onset and two infant onset patients, with one or two null mutations. The other two neonatal onset patients were diagnosed since early birth through neonatal screening and their clinical manifestation are almost normal after treatments. Among 11 patients, seventeen different mutations in the ACADVL gene were identified, with a total mutation detection rate of 95.45% (21/22 alleles), including eleven reported mutations ( p. S22X, p. G43D, p. R511Q, p. W427X, p. A213T, p. C215R, p. G222R, p. R450H, p. R456H, c. 296-297delCA, c. 1605 + 1G > T) and six novel mutations (p. S72F, p. Q100X, p. M437T, p. D466Y, c. 1315delG insAC, IVS7 + 4 A > G). The p. R450H was the most frequent mutation identified in three alleles (13.63%, 3/22 alleles), followed by p. S22X and p. D466Y mutations which were detected in two alleles (9.09%, 2/22 alleles). CONCLUSION: The ACADVL gene mutations were heterozygous in our patients. The mortality of neonatal onset form and infant onset form is much higher than the late onset form patients, suggesting a certain correlation between the genotype and phenotype was found. The earlier diagnosis and treatment of VLCADD are of vital importance for the improvement of the prognosis of the patients.
Asunto(s)
Acil-CoA Deshidrogenasa de Cadena Larga/deficiencia , Genotipo , Errores Innatos del Metabolismo Lipídico/genética , Enfermedades Mitocondriales/genética , Enfermedades Musculares/genética , Mutación , Fenotipo , Rabdomiólisis/etiología , Acil-CoA Deshidrogenasa de Cadena Larga/genética , Adolescente , Edad de Inicio , Alelos , Pueblo Asiatico , Niño , Preescolar , China , Síndromes Congénitos de Insuficiencia de la Médula Ósea , Femenino , Pruebas Genéticas , Heterocigoto , Humanos , Lactante , Recién Nacido , Errores Innatos del Metabolismo Lipídico/complicaciones , Masculino , Enfermedades Mitocondriales/complicaciones , Enfermedades Musculares/complicaciones , Tamizaje Neonatal , Pronóstico , Análisis Espectral , Espectrometría de Masas en TándemRESUMEN
Objective To study the effects of High frequency two -way jet ventilation on the function respiratory and circulation of patients with Trachea and Carinal reconstruction.Methods Fifty patients with lung cancer,who were scheduled for elective trachea and carinal reconstruction,were intubated with double lumen tube following anesthesia induction and general anesthesia.High frequency ventilation was used on the healthful main bronchus during carinal reconstruction,a Hunsaker tube was inserted 3cm into the healthful main bronchus.HFTJV was applied with the respiratory rate of 120 /min,the ratio of inspiration and expiration E =1:1 and drive pressure of 0.2 -0.25Mpa.Blood gas analysis was made before the anesthesia,15 min following one -lung ventilation,10,20, 30 min following HFTJV and 15min following one -lung ventilation,respectively and monitor MAP,HR,SpO2 , PetCO2 .Results PaO2 in high frequency ventilation increased significantly compared with preoperative (78.0 ± 10.5)mmHg,was respectively (161.4 ±10.2)mmHg,(156.0 ±15.7)mmHg,(153.0 ±15.1)mmHg (P 0.05). Conclusion HFTJV is safe and reliable for Trachea and carinal reconstruction.
RESUMEN
According to the practical problems including uneven distribution of medical resources in border areas , the difficulty of medical treatment for grass-roots unit, the low efficiency of referral between hospitals , and untimely mastery of health conditions of offi-ciers and soldiers , we constructed and developed a telemedicine information system based on hospital medical database with the backig of military integrated information network platform .A joint regional service platform among hospitals was constructed to realize high efficien -cy of medical referrals for officers and soldiers , computerization of personal medical information transmission , digitalization of health re-cords management , and paperless medical audit .The system provides convenient and high quality health care services , improves the level and efficiency of medical service , and enhances the ability of medical support to the troops by informationization .