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OBJECTIVE@#To carry out single nucleotide polymorphism (SNP)-based chromosome microarray analysis (CMA) for a boy featuring global developmental delay.@*METHODS@#The SNP array was conducted for the child, and real-time PCR was used to validate its result and identify the origin of pathological copy number variants.@*RESULTS@#SNP array revealed that the patient has carried a de novo 2.5 Mb duplication at 2q22.3q23.3, which encompassed ACVR2A, KIF5C, MBD5, EPC2, LYPD6, LYPD6, MMADHC and ORC4 genes. Literature review suggested that the MBD5 gene from the duplicated region may have predisposed to the global developmental delay shown by the girl.@*CONCLUSION@#The patient's clinical phenotype was consistent to that of 2q23 duplication, for which the MBD5 gene may play a key role. CMA has provided an important tool for the diagnosis of patients with global developmental delay.
Subject(s)
Child , Female , Humans , Chromosome Deletion , Chromosomes, Human, Pair 2 , DNA Copy Number Variations , DNA-Binding Proteins , Genetics , Genotype , Kinesins , PhenotypeABSTRACT
Objective To analyze the safety and effect of non-invasive pressure support ventilation in 32 patients by using a helmet and to give the appropriate way of patients who need non-invasive ventilation ( NIV) support after congenital heart disease surgery. Methods Patients over one year old after congential heart disease surgery were admitted in our Department of Cardiovascular Thoracic Surgery from July 2015 to December 2015. Patients who get clinically improved within one hour were divided into the early improved group( Group-E) ,otherwise they were classified to non-early improved group( Group-NE) . The general infor-mation,diagnosis, indication of NIV, ICU and hospital stay, complications, and mortality were collected. Results Thirty-two patients were engaged in this study,including 18 patients(56. 25%) in Group-E and 14 patients(43. 75%) in Group-NE. Patients who got improved in the first hour might have a higher incidence of avoiding reintubation[83. 33%(15/18) vs. 42. 86%(6/14),P=0. 02]. The heart rate,respiratory rate, pH,PaO2/FiO2 and lactate were improved in Group-E compared with Group-NE after the first hour by using helmet. At the end of NIV,the oxygenation showed no difference but the PaCO2 was lower in Group-E. In Group-E,the values showed a trend of improvement,while the values in Group-NE showed not only no statis-tical significance in different time points but also seemed to have a tendency of hypercapnia and reduced com-fort behavior scale in the end of NIV. There were 6 cases in Group-E and 10 cases in Group-NE developed ventilation associated pneumonia with the incidence of 33. 33%(6/18) and 71. 43%(10/14),respectively, which was significant difference (χ2 =4. 571,P =0. 03). The total duration of mechanical ventilation of Group-E was shorter than that of Group-NE [ ( 136. 72 ± 151. 49 ) h vs. ( 252. 79 ± 155. 33 ) h, P <0. 05 ] . Conclusion NIV through a helmet in children could be well tolerated and avoid re-intubation. Patients who get improved earlier may have more clinical advantages,such as less time of mechanical ventilation and lower incidence of postoperative complications. Early improvement can be considered as a valuable indicator wheth-er the patient needs to use NIV continuously.
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Objective To detect the expression of caveolin-1 and PY14caveolin-1 in different esophageal tissues,and study the relationships between the expressions of caveolin-1 and PY14caveolin-1 with the occurrence and development of esophageal squamous cell carcinoma.Methods The fresh surgical specimens in 60 patients with esophageal squamous cell carcinoma were collected and Western blotting were used to analyze and detect the expressions of caveolin-1 and PY14caveolin-1 in esophageal squamous cell carcinoma,adjacent esophageal tissues and normal esophageal tissues.The expression of cav-1 and PY14caveolin-1 with esophageal squamous cell carcinoma were analyzed.Results The expressions of caveolin-1 and PY14caveolin-1 in esophageal squamous cell carcinoma were much higher than that in adjacent tissues and normal esophageal tissues,and the difference between them was statistically significant(P＜0.05).Conclusion The expression of caveolin-1 and PY14caveolin-1 in esophageal squamous cell carcinoma, adjacent esophageal tissues and normal esophageal tissues decreases successively,it suggests the caveolin-1 and PY14caveolin-1 may be the key of the occurrence and development of esophageal cancer cells and they could be involved in the migration and invasion of esophageal cancer.
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Objective To investigate the durability of the cryopreserved valved homograft conduit (VHC) used in reconstruction the right ventricular outflow tract (RVOT) and its risk factors. Methods 119 cases undergoing VHC reconstruction the RVOT in our hospital between November 1989 and July 2003. 65 cases were followed-up, including the clinical examination, electroeardiography, chest radiography, echooardiography, or cardiac MRI for detection of development of homograft calcifications, obstruction and conduit valve regurgitation, and we used the morden statistics method to analyze the factors for the VHCs' durability. Results Among 65 cases, the median survival time for the VHCs was 10.9 years. The longest survival lasted for 12.8 years.The homografts failure was 15.4% . Conclusion The younger age(≤4y), smaller weighl(≤10 kg),aortic homograft are the risk factors for the VHC' durability(P