ObjectiveTo study the efficacy and safety of heated humidified high flow nasal cannula ( HHHFNC) and nasal continuous positive airway pressure( NCPAP) ventilation for prevention of extubation failure in extremely low birth weight(ELBW)infants in our NICU.MethodsFrom Jan.2011 to Dec. 2014, 129 ELBW infants admitted to our hospital were randomly assigned into HHHFNC group and NCPAP group. The inclusion criteria were gestational age ( GA ) <34 w, birth weight ( BW )<1000 g, admission within 7 d after birth and transition to noninvasive respiratory support after a period of mechanical ventilation with an endotracheal tube. The primary outcome included:the incidence of extubation failure, nasal injury, air leak, abdominal distention and bronchopulmonary dysplasia ( BPD). Results Statistically significant difference sexisted between the two groups on oxygen the rapyduration, the time required reaching total enteral feedings and the incidences of nasal injury, air leak, abdominal & nbsp;distention and necrotizing enterocolitis ( P<0. 05). The incidence of extubation failure within 7 days was 25. 8℅ in HHHFNC group and 47. 6℅ in NCPAP group ( P <0. 05 ) . No differences between the 2 groups on total ventilation duration, non-invasive ventilation duration, re-intubation rate at 3d after extubation, BPD, retinopathy of prematurity ( ROP ) , intracerebral hemorrhage ( ICH ) , periventricular leukomalacia(PVL)and patent ductus arteriosus(PDA).Conclusions HHHFNC is an effective and safe method for prevention of extubation failure in ELBW infants.

Objective To investigate the effects of early nasal intermittent positive pressure ventilation (NIPPV) compared with early continuous positive airway pressure (NCPAP) in low birth weight preterm infants with respiratory distress syndrome (RDS).Methods We performed a prospective,randomized controlled trial involving 364 low birth weight preterm infants with respiratory distress syndrome within 6 hours of birth.The infants were randomly assigned to NIPPV (n=188) or NCPAP (n=176) groups.Non invasive ventilation was initiated in the neonatal intensive care unit (NICU).The rate of mechanical intubation (within 3 days or 7 days),the use of pulmonary surfactant (PS),the rate of complications and mortality were compared between the two groups.Mann Whitney U,t and Chi-square tests were used for statistical analysis.Results The average time of invasive mechanical ventilation in NIPPV group were lower than that in NCPAP group[2.0 (1.0-4.0) d vs 7.0 (3.0-8.5) d,U=-3.457,P=0.001].The need for intubation and mechanical ventilation by day 3 and day 7 in the NIPPV group were less than those in the NCPAP group [day 3:4.8％ (9/188) vs 10.8％ (19/176),x2=4.621,P=0.032; day 7:9.0％ (17/188) vs 16.5％ (29/176),x2=4.551,P=0.033].In the NIPPV group,infants who got PS therapy was less than that in the NCPAP group [3.2％ (6/188) vs 8.5％ (15/176),x2=4.752,P=0.029].There was no significant difference in the fatality rate between the NIPPV and the NCPAP group [12.8％ (24/188) vs 10.8％ (19/176),P ＞ 0.05].There were no significant difference in the incidence of air leak,intracranial hemorrhage,periventricular leukomalacia,retinopathy of prematurity,necrotizing enterocolitis,patent ductus arteriosus,and bronchopulmonary dysplasia between the NIPPV group and the NCPAP group.Conclusion Among low birth weight prcterm infants with RDS,the early use of NIPPV reduces the need for PS,intubation and invasive ventilation compared with NCPAP.

OBJECTIVETo determine the molecular etiology for a Chinese pedigree affected with epidermolysis bullosa simplex (EBS).

METHODSTarget region sequencing using a hereditary epidermolysis bullosa capture array combined with Sanger sequencing and bioinformatics analysis were used. Mutation taster, PolyPhen-2, Provean, and SIFT software and NCBI online were employed to assess the pathogenicity and conservation of detected mutations. One hundred healthy unrelated individuals were used as controls.

RESULTSTarget region sequencing showed that the proband has carried a unreported heterozygous c.1234A>G (p.Ile412Val) mutation of the KRT14 gene, which was confirmed by Sanger sequencing in other 8 affected individuals but not among healthy members of the pedigree. Bioinformatics analysis indicated that the mutation is highly pathogenic. Remarkably, 3 members of the family (2 affected and 1 unaffected) have carried a heterozygous c.1237G>A (p.Ala413Thr) mutation of the KRT14 gene, which was collected in Human Gene Mutation Database (HGMD). Bioinformatics analysis indicated that the mutation may not be pathogenic. Both mutations were not detected among the 100 healthy controls.

CONCLUSIONThe novel c.1234A>G(p.Ile412Val) mutation of the KRT14 gene is probably responsible for the disease, while c.1237G>A (p.Ala413Thr) mutation of KRT14 gene may be a polymorphism. Compared with Sanger sequencing, target region capture sequencing is more efficient and can significantly reduce the cost of genetic testing for EBS.

Adult ; Amino Acid Sequence ; Case-Control Studies ; Epidermolysis Bullosa Simplex ; genetics ; Female ; Humans ; Keratin-14 ; genetics ; Male ; Mutation ; genetics ; Pedigree ; Young Adult

Objective:To investigate the impact and interaction of Toll like receptor 2 (TLR2) and interferon regulatory factor 5 (IRF-5) gene polymorphisms on the susceptibility to neonatal sepsis.Methods:A total of 78 cases of neonatal septicemia patients admitted to Baoding Children′s Hospital from July 2018 to August 2021 were prospectively selected as the study group, and 78 cases of healthy newborns in the same period were selected as the control group. The TLR2 and IRF-5 gene polymorphisms and the levels of inflammatory markers [C-reactive protein (CRP), tumor necrosis factor-α (TNF-α) and interleukin-6 (IL-6)] in different genotypes of infants were compared between the two groups. We evaluated the relationship between TLR2 and IRF-5 genotypes, inflammatory markers, and susceptibility to neonatal sepsis, and analyzed the interaction between their gene polymorphisms and susceptibility to neonatal sepsis.Results:There were significant differences in the distribution of TLR2 (rs3804099) and IRF-5 (rs2004640) loci genotype and Allele frequency between the two groups (all P<0.05); The serum CRP, TNF-α, and IL-6 levels in children with TLR2 (rs3804099) genotype TT genotype [(111.12±30.87)mg/L, (77.50±20.02)pg/ml, (40.27±11.31)pg/ml] were higher than those in children with CC/CT genotype [(72.46±24.51)mg/L, (54.18±17.65)pg/ml, (28.34±9.05)pg/ml], and the differences were statistically significant (all P<0.05). The serum CRP, TNF-α, and IL-6 levels [(113.90±28.94)mg/L, TNF-α (79.84±19.82)pg/ml, IL-6 (41.05±11.49)pg/ml] in children with the IRF-5 (rs2004640) TT genotype were higher than those in children with the GG/GT genotype [(70.88±22.16)mg/L, (52.27±16.73)pg/ml, (27.96±9.75)pg/ml], and the differences were statistically significant (all P<0.05). The TT genotypes at TLR2 (rs3804099) and IRF-5 (rs2004640) loci were positively correlated with serum CRP, TNF-α, and IL-6 levels (all P<0.05); The TT genotypes at TLR2 (rs3804099) and IRF-5 (rs2004640) loci were independent risk factors for susceptibility to neonatal sepsis (all P<0.05); The TT genotype at the TLR2 (rs3804099) locus and the TT genotype at the IRF-5 (rs2004640) locus exhibited a positive interaction in susceptibility to neonatal sepsis ( OR=7.467, γ=1.728). Conclusions:TLR2 (rs3804099) TT genotype and IRF-5 (rs2004640) TT genotype significantly increase the susceptibility to neonatal sepsis, and there is a positive interaction between the two.

Objective:To study the effects of quality improvement project of respiratory support in delivery room on the short-term clinical outcomes of very/extremely low birth weight infant (VLBWI/ELBWI).Methods:The clinical data of VLBWI/ELBWI before and after the implementation of the quality improvement project of respiratory support in delivery room in our hospital were retrospectively analyzed. The incidences of endotracheal intubation in delivery room, total endotracheal intubation within 72 h after birth, mechanical ventilation duration, total oxygen therapy duration, bronchopulmonary dysplasia (BPD) and other complications were compared between pre-improvement group (from January to October 2019) and post-improvement group (from January to December 2020).Results:A total of 85 cases were included in pre-improvement group and 85 in post-improvement group. The gestational age of the two groups were (29.2±1.4) weeks and (29.1±1.5)weeks and the birth weight were (1 180±195) g and (1 186±207) g, without significant differences ( P>0.05). After the implementation of the quality improvement project, the incidence of endotracheal intubation in the delivery room decreased from 32.9% to 2.4%, and the total incidence of endotracheal intubation within 72 h after birth decreased from 58.8% to 27.1%. The usage of pulmonary surfactant significantly decreased from 54.1% to 38.8% ( P<0.05) and the incidence of hemodynamically significant patent ductus arteriosus (hsPDA) also significantly decreased from 17.6% to 5.9% ( P<0.05).No significant differences existed among other complications ( P>0.05). Conclusions:The quality improvement project of respiratory support in the delivery room can significantly reduce the incidence of endotracheal intubation in VLBWI/ELBWI without increasing short-term adverse outcome.

Objective:To study the efficacy of nasal intermittent positive pressure ventilation (NIPPV) and minimally invasive surfactant therapy (MIST) in very preterm infants with respiratory distress syndrome (RDS).Methods:From January to December 2020, very preterm infants (gestation age ≤30 weeks) with RDS born and treated in our hospital were randomly assigned into NIPPV group and nasal continuous positive airway pressure (NCPAP) group. Both groups were treated with MIST technique. The following items were compared between the two groups:adverse reactions during MIST, partial pressure of carbon dioxide (PaCO 2) at 2 h after MIST, the incidences of intubation within 72 h, two or more doses of pulmonary surfactant (PS), frequent apnea, other complications and the parameters of respiratory support treatment. Results:A total of 62 cases were included, with 32 in the NIPPV group and 30 in the NCPAP group. Compared with the NCPAP group, the NIPPV group had lower incidences of bradycardia (6.3% vs. 30.0%), decreased oxygen saturation (12.5% vs. 40.0%) and apnea (6.3% vs. 30.0%) during MIST ( P<0.05). No significant difference existed in the incidence of regurgitation ( P>0.05). PaCO 2 at 2 h after MIST [40.1(38.2,43.8)mmHg vs. 48.3(44.1,50.0)mmHg], the incidences of intubation within 72 h (6.3% vs. 30.0%), two or more doses of PS (6.3% vs. 30.0%)and frequent apnea (6.3% vs. 30.0%) in NIPPV group were lower than NCPAP group ( P<0.05). No significant differences existed between the two groups on the following items: the durations of invasive ventilation, non-invasive ventilation, oxygen therapy, the incidences of bronchopulmonary dysplasia, intraventricular hemorrhage (≥Ⅲ), periventricular leukomalacia, retinopathy of prematurity (≥Ⅱ), necrotizing enterocolitis (≥Ⅱb), nasal injury, air leak and death ( P>0.05). Conclusions:Combining NIPPV and MIST can reduce the incidence of adverse reactions during PS administration without increasing respiratory support duration and common complications in preterm infants. It is recommended for clinical use.

Objective:To explore the genetic etiology for a premature ovarian insufficiency (POI) patient from a consanguineous Chinese family, and to provide basis for genetic counseling and fertility counseling.Methods:Whole-exome sequencing was performed using DNA extracted from the blood sample of POI patient. Suspected pathogenic mutation was analyzed by bioinformatics methods and verified by Sanger sequencing. The pathogenicity of the variation was assessed according to the ACMG genetic variation classification criteria and guidelines.Results:A homozygous variation, c. 32G>T (p.G11V), of PSMC3IP was identified in the patient. Bioinformatics analysis revealed that the variation was conserved in different animal species, and this variation was classified as possible pathogenic variation according to the ACMG genetic variation classification criteria and guidelines.Conclusions:The homozygous missense variation of PSMC3IP is the cause of the POI patient in this family. We are reporting for the first time the missense variation in PSMC3IP gene caused POI, which enriched the mutation spectrum of PSMC3IP and provided the basis for genetic counseling and fertility guidance of this family.

Objective:To study the risk factors of failure using nasal high frequency oscillatory ventilation (nHFOV) as initial therapy in the treatment of respiratory distress syndrome (RDS) in very low birth weight infants (VLBWIs).Methods:From January 2018 to December 2021, VLBWIs with RDS initially supported by nHFOV in NICU of our hospital were retrospectively analyzed. They were assigned into success and failure groups according to the ventilation efficacy. Demographic data and clinical outcomes of the two groups were compared. Risk factors of initial nHFOV failure were analyzed using binary Logistic regression method.Results:A total of 135 infants were included, including 103 in the success group and 32 in the failure group. The initial nHFOV failure rate was 23.7%. The failure group had lower pH (7.26±0.09 vs. 7.33±0.08) and PaO 2 [61.0 (49.6, 77.2) mmHg vs. 83.6 (64.4, 99.0) mmHg] than the success group ( P<0.05) and higher PaCO 2 than the success group [49.0 (42.3, 58.1) mmHg vs. 43.4 (36.0, 50.0) mmHg] ( P<0.05). Using PaCO 2 as predictor, the area under the curve (AUC) was 0.682 (95% CI 0.575-0.788) and the cut-off value was 44.8 mmHg for nHFOV failure and the AUC was 0.716 (95% CI 0.615-0.817) and the cut-off value was 67.1 mmHg for nHFOV success. The incidences of early onset sepsis (EOS), shock within 3 d and hemodynamically significant patent ductus arteriosus (hsPDA) in the failure group were significantly higher than the success group (40.6% vs. 7.8%, 53.1% vs. 2.9%, 31.3% vs. 13.6%, P<0.05, respectively). Binary logistic regression analysis found that PaO 2<67.1 mmHg ( OR=5.458,95% CI 1.730-17.220) on the first blood gas analysis and shock within 3 d ( OR=26.585,95% CI 3.854-183.396) were independent risk factors for initial nHFOV failure ( P<0.05). Conclusions:The failure of initial nHFOV is correlated with the first blood gas parameters, EOS, hsPDA and shock within 3 d. Shock within 3 d and low PaO 2(<67.1 mmHg) were independent risk factors for initial nHFOV failure.

Objective:To study the safety and feasibility of application of delayed umbilical cord clamping (DCC) in very preterm and extremely preterm infants.Methods:Based on the previous improvement projects of temperature management and respiratory support, we conducted a prospective study on the effect of umbilical cord clamping quality improvement project using the clinical data of very preterm and extremely preterm infants admitted to Guangdong Maternal and Child Health Hospital. The infants admitted from July to December 2020 who underwent immediate umbilical cord clamping (ICC) were included in the ICC group, and the infants admitted from January to June 2021 who underwent DCC were involved in the DCC group. The incidence of asphyxia, hypothermia, endotracheal intubation within 24 h after birth, endotracheal intubation within 72 h after birth, bronchopulmonary dysplasia and other complications, mechanical ventilation duration and total oxygen therapy duration were compared between the two groups.Results:A total of 45 cases were included in ICC group and 54 cases in DCC group. The gestational age of the two groups was (29.3±1.7) weeks and (29.6±1.4) weeks, and the birth weight was (1 250±332) g and (1 257±306) g. The differences were not statistically significant ( P>0.05). There were no significant differences between the two groups in the incidence of asphyxia, hypothermia, bronchopulmonary dysplasia and other complications related to preterm infants, tracheal intubation rates within 24 and 72 h, and the neonatal temperature at admission to NICU ( P>0.05). Conclusions:Delayed umbilical cord clamping does not increase the risks of asphyxia, hypothermia or invasive respiratory support in very preterm and extremely preterm infants.

Humans ; Urinary Bladder Neoplasms/pathology* ; Carcinoma, Transitional Cell/pathology* ; Genetic Markers ; Biomarkers, Tumor/genetics* ; Urothelium/pathology*