Objective:To investigate the application value of single-sperm sequencing in resolving the carrier status of preim-plantation genetic testing(PGT)for chromosomal structural rearrangements in Robertsonian translocations.Methods:Haplotypes were constructed by single-sperm isolation combined with single-sperm sequencing for a patient with 45,XY,der(13;14)(q10;q10).Twenty single-sperm samples were isolated by mechanical braking and subjected to whole-genome amplification(WGA),and then the Asian Screening Array(ASA)gene chip was used to detect the 183 708 single nucleotide polymorphisms(SNP)of the WGA products.The single sperm associated with the translocation that could be used as haplotype inference was detected by copy number variation(CNV)sequencing,and the chromosomal haplotypes with normal and Robertsonian translocations were inferred.Three biopsy samples of embryonic trophoblast cells were used as the objects.After whole-genome amplification,high-throughput sequencing was employed to determine the status of the translocation chromosome carried by the embryos.The available blastocysts were selected for transfer,and the amniotic fluid samples were taken at 18 weeks of gestation to confirm whether the fetus carried the pathogenic muta-tion.Results:A total of 6 037 SNP sites were screened by single-sperm sequencing,and 30 sites selected to distinguish normal and translocation haplotypes.Preimplantation haplotype analysis showed that all the three embryos were euploids without Robertsonian translocation chromosome.Genetic testing of amniotic fluid in the second trimester confirmed that the karyotype of the fetus was 46,XN,carrying no Robertsonian translocation chromosome.Conclusion:For male carriers of Robertsonian translocation,single sperm sequencing can be used to screen SNP sites to construct haplotypes for distinguishing normal and Robertsonian translocation em-bryos,and to provide a basis for embryo selection by preimplantation chromosomal structural genetic testing.

ObjectiveThe aim of this study was to investigate the variations of endogenous metabolites in the urine and plasma of 2，4，6-trinitro benzene sulfonic acid （TNBS）-induced colitis model rats on the base of untargeted and targeted metabolomics techniques. MethodsA total of 16 male SD rats were randomly and equally divided into control group and model group. The rats in the model group were treated with TNBS enema to establish experimental colitis rat model. The urinary metabolites of rats in the both two groups were detected by employing ¹H nuclear magnetic resonance （¹H NMR）. The levels of amino acids in urine and plasma of above rats were investigated by hydrophilic interaction ultra-high-performance liquid chromatography-tandem mass spectrometry （HILIC-UPLC-MS/MS）. Multivariate statistical analysis was combined to analyze the metabolic profile additionally. ResultsCompared with the control group， the ¹H NMR results showed that the metabolic profile of urine in the model rats was significantly changed， including increased levels of pyruvate， formate， methylamine and citrate， decreased levels of trimethylamine oxide and malonate （all P < 0.05）. Meanwhile， the HILIC-UPLC-MS/MS results indicated that the levels of phenylalanine and histidine were significantly increased in the urine of model rats， the contents of lysine， arginine， phenylalanine， leucine， glycine， tryptophan， proline， histidine and tyrosine were markedly elevated while glutamine， valine， alanine and isoleucine were notably reduced in the plasma of model rats （all P < 0.05）. ConclusionsThe metabolic pathways including energy metabolism， amine metabolism and amino acid metabolism were interfered in colitis rats induced by TNBS. The multivariate metabolomics methods based on ¹H NMR and HILIC-UPLC-MS/MS revealed the metabolic alterations of urine and plasma in the colitis rats， providing new perspective for the mechanism research of inflammatory bowel disease （IBD） and the exploration of related biomarkers.

OBJECTIVE: To investigate the clinical features and outcome of neonatal acute respiratory distress syndrome (ARDS) in southwest Hubei, China. METHODS: According to the Montreux definition of neonatal ARDS, a retrospective clinical epidemiological investigation was performed on the medical data of neonates with ARDS who were admitted to Department of Neonatology/Pediatrics in 17 level 2 or level 3 hospitals in southwest Hubei from January to December, 2017. RESULTS: A total of 7 150 neonates were admitted to the 17 hospitals in southwest Hubei during 2017 and 66 (0.92%) were diagnosed with ARDS. Among the 66 neonates with ARDS, 23 (35%) had mild ARDS, 28 (42%) had moderate ARDS, and 15 (23%) had severe ARDS. The main primary diseases for neonatal ARDS were perinatal asphyxia in 23 neonates (35%), pneumonia in 18 neonates (27%), sepsis in 12 neonates (18%), and meconium aspiration syndrome in 10 neonates (15%). Among the 66 neonates with ARDS, 10 neonates (15%) were born to the mothers with an age of ≥35 years, 30 neonates (45%) suffered from intrauterine distress, 32 neonates (49%) had a 1-minute Apgar score of 0 to 7 points, 24 neonates (36%) had abnormal fetal heart monitoring results, and 21 neonates (32%) experienced meconium staining of amniotic fluid. Intraventricular hemorrhage was the most common comorbidity (12 neonates), followed by neonatal shock (9 neonates) and patent ductus arteriosus (8 neonates). All 66 neonates with ARDS were treated with mechanical ventilation in addition to the treatment for primary diseases. Among the 66 neonates with ARDS, 10 died, with a mortality rate of 15% (10/66), and 56 neonates were improved or cured, with a survival rate of 85% (56/66). CONCLUSIONS Neonatal ARDS in southwest Hubei is mostly mild or moderate. Perinatal asphyxia and infection may be the main causes of neonatal ARDS in this area. Intraventricular hemorrhage is the most common comorbidity. Neonates with ARDS tend to have a high survival rate after multimodality treatment.
China ; Female ; Humans ; Infant, Newborn ; Meconium Aspiration Syndrome ; Pregnancy ; Respiratory Distress Syndrome, Newborn ; Retrospective Studies