Clinical and genetic analysis of a newborn with hypoparathyroidism, sensorineural hearing loss, and renal dysplasia syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical phenotype and genetic basis for a male neonate featuring hypoparathyroidism, sensorineural hearing loss, and renal dysplasia (HDR) syndrome.@*METHODS@#The child was subjected to genome-wide copy number variation (CNVs) analysis and whole exome sequencing (WES). Clinical data of the patient was analyzed. A literature review was also carried out.@*RESULTS@#The patient, a male neonate, had presented with peculiar facial appearance, simian crease and sacrococcygeal mass. Blood test revealed hypocalcemia, hypoparathyroidism. Hearing test suggested bilateral sensorineural deafness. Doppler ultrasound showed absence of right kidney. Copy number variation sequencing revealed a 12.71 Mb deletion at 10p15.3-p13 (chr10: 105 001_12 815 001) region. WES confirmed haploinsufficiency of the GATA3 gene. With supplement of calcium and vitamin D, the condition of the child has improved.@*CONCLUSION@#The deletion of 10p15.3p13 probably underlay the HDR syndrome in this patient.

Analysis of clinical characteristics and factors associated with short term outcomes in early term neonates / 中华儿科杂志

Objective@#To investigate the clinical characteristics of early term and full term neonates, and analyze the risk factors associated with short term outcomes in early term neonates.@*Method@#Neonates with birth weight (BW) ≥2 500 g from year 2013 were analyzed retrospectively based on American Congress of Obstericians & Gynecologists (ACOG) latest definition of term infants. According to inclusion and exclusion criteria, early term (gestational age 37-38 weeks) and full term(gestational age 39-40 weeks) neonates were included, whose morbidity constituent proportion was analyzed by χ2 test or Fisher accuracy test or t test or Wilcoxon test. Risk factors associated with short term outcomes in early term population were analyzed by Logistic regression analysis.@*Result@#There were 3 002 discharged term infants being investigated, among whom 1 303 cases were included(768 males and 535 females), and 37, 38, 39 and 40 weeks′ gestational age newborns were 160, 324, 450 and 369 respectively. Compared with full term neonates(n=819), early term neonates (n=484) had longer length of hospital stay (LOS)(6.0(5.0, 9.0) vs. 6.0(4.0, 8.0), Z=2.830, P=0.005), higher usage rate of intravenous antibiotics(86.4%(418/484) vs. 80.1%(656/819), χ2=8.009, P=0.005), higher assisted ventilation rate(9.5%(46/484) vs. 2.9%(24/819), χ2=25.528, P<0.01), higher pulmonary surfactant administration rate(4.3%(21/484) vs. 1.1%(9/819), χ2=14.006, P<0.01), as well as higher hypoglycemia incidence(3.9%(19/484) vs. 1.2%(10/819), χ2=10.226, P=0.001). There were no statistically significant differences in 1 min Apgar score (9(9, 10)vs. 9(9, 10), Z=0.860, P=0.390), 5 min Apgar score (10(9, 10) vs. 10(9, 10), Z=0.810, P=0.418), white blood cell count (15 (11, 21) ×109 /L vs.15 (11, 22) ×109 /L, Z=0.880, P=0.379), hemoglobin count(180 (159, 205) vs. 182 (160, 204) g/L, Z=0.560, P=0.576), or platelet count(303(234, 372) ×109/L vs. 301(237, 391) ×109/L, Z=0.550, P=0.584). BW between 2 500 g and 2 999 g(OR 1.69, 95% CI: 1.10-2.62, χ2 =5.614, P=0.018), wet lung(OR=2.61, 95% CI: 1.61-4.24, χ2=15.023, P=0.000)and pneumonia(OR 1.88, 95% CI: 1.14-3.08, χ2=6.192, P=0.013) were risk factors in early term neonates′ short term adverse outcomes.@*Conclusion@#Early term newborns are still at their "immature" state, and respiratory disorders are major risk factors associated with short term outcomes. Hence, early delivery during 37-38 weeks should be avoided as possible as we can.

Expression and biological role of Matrix metalloproteinases 16 in esophagus squamous cell carcinoma / 中国癌症杂志

Background and purpose:Esophageal carcinoma is one of main malignancies with rapid course and a poor prognosis in China. The reasons of poor overall survival are the invasion and metastasis of the tumor. Matrix metalloproteinase (MMPs) play essential roles in promoting tumor invasion and metastasis. In this study, we aimed to investigate the expression and functional signiifcance of matrix metalloproteinase 16(MMP-16) in esophageal squamous cell carcinoma (ESCC). We expect to ifnd a lead molecule for the beneift of early detecting tumor and the development of novel treatment of ESCC. Methods:The expression levels of MMP-16 protein and mRNA in human ESCC and the matched normal tissues were determined by immunohistochemistry, Western blot and Real-Time PCR (RT-PCR). The stable Ec109 cell line with MMP-16 knockdown and negative controls were established by RNA interference technology. The cell migration, invasion, proliferation and cell apoptosis of MMP-16 in stable interfered Ec109 cell line was examined by cell counting, scratch test, Transwell test and lfow cytometry assays. The data were analyzed by t test. Results:MMP-16 protein was downregulated in cancerous group compared with the matched normal tissue and correlated with the clinical features of histological differentiation (P0.05). Conclusion: MMP-16 is downregulated in human ESCC tissues. The cell migration and invasion is promoted by interference of MMP-16 in Ec109, while the cell apoptosis is inhibited. MMP-16 may be considered as a target gene for therapy of ESCC.