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Objective:To study the genetic profile of neonatal hyperbilirubinemia with unknown etiology in Guangdong Province and the clinical significance of jaundice-related genetic screening.Methods:From July to September, 2021, neonates with hyperbilirubinemia of unknown etiology born in different hospitals in Guangdong Province were studied. 24 neonatal jaundice-related exons were sequenced using targeted capture and high-throughput sequencing technology. The pathogenic variants were analyzed.Results:A total of 331 cases, 139 (42.0%) cases showed positive screening results with five diseases, including 65 (19.6%) cases of Gilbert syndrome, 48 (14.5%) cases of glucose-6-phosphate dehydrogenase (G6PD) deficiency,18 (5.4%) cases of sodium taurocholate cotransporting polypeptide deficiency, 4 (1.2%) cases of Citrin deficiency and 4 (1.2%) cases of Dubin-Johnson syndrome. 149 (45.0%) cases carried one or more genetic variants and 43 (13.0%) cases showed no clinically significant variants. The 8 high-frequency mutation loci (carrier rate >1%) are UGT1A1 gene c.211G>A and c.1091C>T, G6PD gene c.1466G>T and c.1478G>A, SLC10A1 gene c.800C>T, SLC25A13 gene c.852_855del TATG, HBB gene c.126_129delCTTT and c.316-197C>T.Conclusions:Genetic factors are important for neonatal hyperbilirubinemia with unknown etiology in Guangdong. The common pathogenic genes are UGT1A1, G6PD, SLC10A1, and SLC25A13 and the population carries high-frequency mutation loci. Therefore, genetic screening in neonates with hyperbilirubinemia of unknown etiology has important clinical significance.
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Objective To explore the clinical features and risk factors of poor prognosis in neonatal necrotizing enterocolitis(NEC).Methods A retrospective study was carried out in the infants with NEC admitted to 6 cooperative hospitals in Guangdong Province between January 2005 and December 2014.The clinical features and risk factors of poor prognosis in preterm and full-term infants diagnosed NEC,early onset and late onset NEC were analyzed.Results A total of 449 cases who met the criteria were admitted during the study time.The mortality was 23.6％ (106/449 cases),of which the preterm group was 24.6％ (58/238 cases) while the full-term group was 22.7％ (48/211 cases),the early onset group was 22.1％ (45/204 cases) while the late onset group was 24.3％ (57/235 cases).The median number of NEC onset in preterm group was 11 d after birth while the number of the full-term group was 6 d.Full-term infants who diagnosed NEC were more likely to manifest themselves as abdominal distension (52.1％ vs.42.0％,x2 =4.597,P =0.032),vomiting(36.5％ vs.17.2％,x2 =21.428,P =0.000) and bloody stool(30.3％ vs.21.4％,x2 =4.653,P =0.031);but in the onset of NEC,preterm infants more likely to have feeding intolerance (21.0％ vs.12.8％,x2=5.309,P =0.021).The early onset group of full-term NEC was much common in twins or multiplets(9.4％ vs.1.1％,x2 =6.226,P =0.013),which rate of surgical therapy was much higher (41.0％ vs.27.0％,P =0.036) and the breast-feeding rate before NEC was lower than the late onset group(14.5％ vs.32.6％,x2 =9.500,P =0.002),the differences were statistically significant.The gestational age and birth weight were bigger in the early onset group of preterm NEC[(33.8 ±2.5) weeks vs.(32.2 ±2.8) weeks,t =4.261,P =0.000;(2.1 ±0.5) kg vs.(1.7 ± 0.5) kg,t =4.735,P =0.000)],but length of stay was shorter than the late onset group (18.0 d vs.26.5 d,P =0.000).Logistic regression analysis showed that the risk factors of poor prognosis of full-term NEC were shock,peritonitis and sepsis;while risk factors of poor prognosis of preterm NEC were small for gestational age infant,pulmonary hemorrhage,shock,intestinal perforation and sepsis;the risk factors of poor prognosis of the early onset group of full-term NEC was shock;while those of the late onset group were shock and peritonitis;the risk factors of poor prognosis in the early onset group of preterm NEC were shock and sepsis,while those in the late onset group were pulmonary hemorrhage,shock,intestinal perforation and sepsis.Conclusions Compared to the preterm NEC,the onset time of full-term NEC was earlier and the clinical manifestations were more typical.Early identification and management of shock,peritonitis,intestinal perforation,sepsis and pulmonary hemorrhage can reduce the risk of poor prognosis of neonate NEC.
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Objective To determine the amount of serum Vitamin D in premature infants,and to investigate its correlation with bone quantitative ultrasound measurement.Methods The serum of premature infants born between 2013 March and 2014 March in the Maternal and Children Health Hospital of Huadu District in Guangzhou were collected,and serum 25-hydroxyvitamin D [25-(OH) D] level was measured by using chemiluminescence immunoassay,while Omnisense quantitative ultrasound was used to measure bone speed of sound(SOS) in the middle area of the left tibia.According to gestational age,the participants were divided into A,B and C groups(28-32 weeks,32 +1-34 weeks,34 + 1-36 +6 weeks,respectively).The levels of 25-(OH)D and SOS were compared and the correlation between them was analyzed.Results The amount of 25-(OH) D of the 3 groups was (41.65 ± 21.15) nmoL/L,(47.15 ± 19.78) nmol/L,and (49.35 ± 19.93) nmol/L,respectively,and the differences among the 3 groups were statistically significant (F =4.441,P =0.012).The ratio of vitamin D abundant or not (insufficiency including deficiency and lack) in preterm among the 3 groups were compared,and the differences among the 3 groups were statistically significant(x2 =11.38,P =0.023).SOS of the 3 groups were (2 787.85 ± 123.01) m/s,(2 865.12 ± 129.44) m/s and (2 908.59 ± 124.01) m/s,respectively,and the differences among the 3 groups were statistically significant (F =28.716,P =0.000).There was a positive correlation between 25-(OH) D and SOS (r =0.084,P =0.024).Conclusions Level of Vitamin D in premature infants is generally inadequate.The smaller the gestational age,the higher the occurrence rate.Vitamin D levels and SOS are significantly positively correlated,and both of them increase with gestational age.
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Objective To study the relationships of serum neuroglobin and neuron-specific enolase level with periventricular hemorrhage-intraventricular hemorrhage ( PVH-IVH) and periventricular leucumalacia ( PVL) in preterm infants. Methods There were 241 cases of preterm infants whose gestational age was less than 34 weeks and were admitted in NICU of Guangzhou Women and Children′s Medical Center, Guangzhou Huadu District Matermal and Child Health Hospital and Dongguan Taiping Hospital from Jan. 2010 to May. 2013, enrolled in the study. The serum level of neuroglobin and neuron-specific enolase were detected within 12 hours and on the 3 d, 7 d, 14 d after birth. Cranial ultrasound was preformed 2~3 d, 1week, 2weeks, 3weeks, and 4 weeks after birth. They also received Cranial MRI examination before discharge or when the correct gestational age reached 40 weeks. All 241 cases were divided into 3 groups ( no brain damage group, PVH-IVH group and PVL group) according to the result of cranial US and MRI. The differences of the serum levels of neuroglobin and neuron-specific enolase among each groups were compared. Results The results of cranial ultrasound and /or MRI showed: 162 cases had no brain damage ( in no brain damage group) , 50 cases had PVH-IVH ( in PVH-IVH group) , and 20 cases had PVL, 9 cases had PVL and PVH-IVH ( both in PVL group) . Within 12 h and 3 d after birth, the serum levels of neuroglobin in PVL group and PVH-IVH group was significantly higher than those in no brain damage group (P0. 05 ) , and there were still significantly higher than those in no brain damage group and PVH-IVH group (all P0. 05). On 7 d and 14 d after birth, the serum levels of neuron-specific enolase in PVL group were no significant difference compared with PVH-IVH group and no brain damage group (all P>0. 05). Conclusion The increased serum levels of neuroglobin and neuron-specific enolase in preterm infants within 12 h and 3 d after birth would have certain clinical significance for judging whether early brain damage and PVL would happen.
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Objective To study the relationships of plasma myelin basic protein (MBP) and S100B level with periventricular hemorrhage-intraventricular hemorrhage (PVH-IVH) and periventricular leucumalacia (PVL) in preterm infants.Methods There were 385 cases of preterm infants whose gestational age was less than 34 weeks and were admitted in NICUs of Guangzhou Women and Children's Medical Center of Guangzhou Medical University,Guangzhou Huadu District Maternal and Child Health Hospital and Dongguan Hospital Affiliated to Jinan University from Jan.2010 to Jun.2013,enrolled in the study.The plasma levels of S100B and MBP protein were detected within 24 hours and on the 3rd,7th,14th day after birth.Cranial ultrasound (US) was preformed 2-3 d,1 week,2 weeks,3 weeks and 4 weeks after birth.They also received Cranial MRI examination before discharge or when the correct gestational age reached 40 weeks.According to the exclusion standard 73 cases were excluded.The included 312 cases were divided into 3 groups (no brain damage group,PVH-IVH group and PVL group) according to the result of cranial US and MRI.The differences of the plasma levels of S100B and MBP protein among each groups were compared,and the relationship of the plasma levels of S100B and MBP protein in no brain damage group with gestational age were analyzed.Results The results of cranial ultrasound and/or MRI showed:204 cases had no brain damage (put in no brain damage group),69 cases had PVH-IVH (put in PVH-IVH group),and 27 cases had PVL,12 cases had PVL and PVH-IVH (both put in PVL group).The plasma level of S100B:within 24h and 3 d after birth,the serum levels of S100B in PVH-IVH group were significantly higher than those in no brain damage group (P ＜ 0.05) ; and the plasma levels of S100B in PVL group were significantly higher than those in no brain damage group and PVH-IVH group (all P ＜ 0.05).On 7 d and 14 d after birth,there were no significant differences between PVH-IVH group and no brain damage group (P ＞ 0.05) ;and the plasma levels of S100B of PVL group were still significantly higher than those in no brain damage group and PVH-IVH group (all P ＜0.05).The plasma levels of MBP:within 24 h,3 d,7 d and 14 d after birth,there were no significant differences between PVH-IVH group and no brain damage group (all P ＞ 0.05) ; and the plasma levels of MBP in PVL group were significantly higher than those in no brain damage group and PVH-IVH group (all P ＜ 0.05).Correlation analysis of gestational age and S100B and MBP:the plasma level of S100B in no brain damage group had negative correlation with gestational age (r =-0.483,P =0.006).The plasma level of MBP had no correlation with gestational age (r =-0.295,P =0.105).Conclusions The plasma levels of S100B and MBP increased significantly in preterm infants with brain damage within 24 h after birth,and the plasma levels of S100B and MBP of PVL infants were much higher than PVH-IVH infants.The increased plasma levels of S100B and MBP of PVL infants lasted longer than PVH-IVH infants.The increase of plasma levels of S100B and MBP in preterm infants would have certain clinical significance for judging whether early brain damage and PVL would happen.