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1.
J Clin Ultrasound ; 52(6): 705-716, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38629899

RESUMO

OBJECTIVE: To explore the suitability of conservative management for neonatal ovarian cysts in newborns. METHODS: A retrospective cohort study was conducted, involving infants diagnosed with neonatal abdominal/pelvic cysts at two separate medical institutions from January 2015 through July 2021. Data collection included clinical characteristics, imaging results, pathological findings, and postnatal outcomes. Statistical analyses were performed using the Student's t-test, Mann-Whitney U-test, and receiver operating characteristic (ROC) curve. RESULTS: In total, 34 cases of neonatal abdominal/pelvic cystic masses were detected, with mean birth weight of 3401 ± 515 g. Of these, 22 patients underwent postnatal cystectomy/oophorectomy. Pathological assessments revealed 16 uncomplicated cysts, 5 complex cysts, and 1 ovarian cyst with torsion complications. Notably, the cysts' dimensions at the time of surgical intervention had significantly decreased from the initial measurements (p = 0.015). The ROC curve analysis presented an area under the curve of 0.642, indicating moderate accuracy in employing cyst size as a discriminative feature to differentiate complex from simple ovarian cysts. Additionally, a short-term follow-up of nonsurgical cases indicated a 100% resolution rate by 24 months of age (n = 9). CONCLUSION: Given their predominantly benign nature, the majority of neonatal ovarian cysts seem to be amenable to conservative management. This approach remains justified for larger cysts with minimal torsion risk, as well as considering the observed reduction in cyst size at birth, which further supports the case against surgical intervention.


Assuntos
Tratamento Conservador , Cistos Ovarianos , Humanos , Feminino , Cistos Ovarianos/diagnóstico por imagem , Cistos Ovarianos/cirurgia , Estudos Retrospectivos , Tratamento Conservador/métodos , Recém-Nascido , Estudos de Coortes , Ovário/diagnóstico por imagem , Ovário/cirurgia , Ultrassonografia/métodos
2.
BMC Pediatr ; 23(1): 250, 2023 05 20.
Artigo em Inglês | MEDLINE | ID: mdl-37210514

RESUMO

BACKGROUND: It is proposed that the development of parenteral nutrition-associated cholestasis (PNAC) was significantly associated with preterm birth, low birth weight, infection, etc.; however, the etiology and pathogenesis of PNAC are not fully understood. Most of the studies examining PNAC-associated risk factors were single-center studies with relatively small sample sizes. OBJECTIVE: To analyze the risk factors associated with PNAC in preterm infants in China. METHODS: This is a retrospective multicenter observational study. Clinical data on the effect of multiple oil-fat emulsions (soybean oil-medium chain triglycerides-olive oil-fish oil, SMOF) in preterm infants were collected from a prospective multicenter randomized controlled study. A secondary analysis was performed in which preterm infants were divided into the PNAC group and the non-PNAC group based on the PNAC status. RESULTS: A total of 465 cases very preterm infants or very low birth weight infants were included in the study in which 81 cases were assigned to the PNAC group and 384 cases were assigned to the non-PNAC group. The PNAC group had a lower mean gestational age, lower mean birth weight, longer duration of invasive and non-invasive mechanical ventilation, a longer duration oxygen support, and longer hospital stay (P < 0.001 for all). The PNAC group had higher respiratory distress syndrome, hemodynamically significant patent ductus arteriosus, necrotizing enterocolitis (NEC) with stage II or higher, surgically treated NEC, late-onset sepsis, metabolic bone disease, and extrauterine growth retardation (EUGR) compared to the non-PNAC group (P < 0.05 for all). In contrast with the non-PNAC group, the PNAC group received a higher maximum dose of amino acids and fat emulsion, more medium/long-chain fatty emulsion, less SMOF, had a longer duration of parenteral nutrition, lower rates of breastfeeding, higher incidence of feeding intolerance (FI), more accumulated days to achieve total enteral nutrition, less accumulated days of total calories up to standard 110 kcal/kg/day and slower velocity of weight growth (P < 0.05 for all). Logistic regression analysis indicated that the maximum dose of amino acids (OR, 5.352; 95% CI, 2.355 to 12.161), EUGR (OR, 2.396; 95% CI, 1.255 to 4.572), FI (OR, 2.581; 95% CI, 1.395 to 4.775), surgically treated NEC (OR, 11.300; 95% CI, 2.127 ~ 60.035), and longer total hospital stay (OR, 1.030; 95% CI, 1.014 to 1.046) were independent risk factors for the development of PNAC. SMOF (OR, 0.358; 95% CI, 0.193 to 0.663) and breastfeeding (OR, 0.297; 95% CI, 0.157 to 0.559) were protective factors for PNAC. CONCLUSIONS: PNAC can be reduced by optimizing the management of enteral and parenteral nutrition and reducing gastrointestinal comorbidities in preterm infants.


Assuntos
Colestase , Nascimento Prematuro , Feminino , Recém-Nascido , Humanos , Recém-Nascido Prematuro , Emulsões/química , Peso ao Nascer , Estudos Prospectivos , Nascimento Prematuro/etiologia , Colestase/etiologia , Colestase/epidemiologia , Nutrição Parenteral/efeitos adversos , Recém-Nascido de muito Baixo Peso , Aminoácidos , Fatores de Risco
3.
Zhongguo Dang Dai Er Ke Za Zhi ; 25(9): 901-908, 2023.
Artigo em Chinês | MEDLINE | ID: mdl-37718394

RESUMO

OBJECTIVES: To compare the impact of two types of fat emulsion on clinical outcomes in preterm infants with varying duration of parenteral nutrition (PN). METHODS: Preterm infants meeting the inclusion criteria were randomly assigned to two groups: medium/long-chain triglyceride fat emulsion (referred to as MCT/LCT) group or multi-oil fat emulsion (containing soybean oil, medium-chain triglycerides, olive oil, and fish oil; referred to as SMOF) group. The infants were stratified into groups based on the duration of PN (15-21 days, 22-28 days, and ≥29 days). Clinical characteristics, nutritional status, biochemical indicators, and clinical outcomes were compared between the two groups. RESULTS: Compared with the MCT/LCT group, the SMOF group had lower peak levels of triglyceride during the hospital stay in preterm infants with PN of 15-21 days, 22-28 days, and ≥29 days, respectively (P<0.05). Logistic regression trend analysis showed that with a longer duration of PN, the risk of parenteral nutrition-associated cholestasis (PNAC) and bronchopulmonary dysplasia (BPD) significantly increased in the MCT/LCT group (P<0.05), while the risk of brain injury did not significantly change (P>0.05). In the SMOF group, the risks of PNAC and BPD did not significantly change with a longer duration of PN (P>0.05), but the risk of brain injury significantly decreased (P=0.006). CONCLUSIONS: Compared to MCT/LCT, SMOF have better lipid tolerance. With a longer duration of PN, SMOF does not increase the risks of PNAC and BPD and had a protective effect against brain injury. This suggests that in preterm infants requiring long-term PN, the use of SMOF is superior to MCT/LCT.

4.
Eur J Pediatr ; 181(8): 3131-3140, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35838780

RESUMO

The purpose of this study is to assess whether duration and size of the arterial duct were associated with severe respiratory morbidity and mortality in preterm infants. All echocardiography evaluations for patent ductus arteriosus (PDA) in a cohort of preterm infants, born at a gestational age less than 28 weeks, from birth up to 36 weeks of postconceptional age or final ductal closure were reviewed. Ductal size was measured at the pulmonary end. PDA was classified as small (E1: ductal diameter (DD) ≤ 1.5 mm), moderate (E2: 1.5 mm < DD ≤ 2.5 mm), or large (E3) (DD > 2.5 mm). The primary outcome was adverse outcome defined by the composite outcome of bronchopulmonary dysplasia (BPD) or death. Infants in whom the primary outcome occurred were classified as "high-risk" whereas patients who did not satisfy this outcome were classified as "low-risk". Intergroup comparison (high vs. low risk) was performed using univariate and multivariate analyses. A total of 135 infants, born between 2010 and 2020, were evaluated. The primary outcome was satisfied in 46 (34.1%) patients. The high-risk group was characterized by increased duration of exposure to PDA of any (E1/E2/E3) grade (44 vs. 25.5 days, p = .0004), moderate or large (E2/E3) PDA (30.5 vs. 11.5 days, p < .0001), moderate (E2) PDA (10.8 vs.6 days, p = 0.05), and large (E3) PDA (11.5 vs.0 days, p < .0001) compared with low-risk group. Lower gestational age, prolonged duration of mechanical ventilation, higher rate of inotrope use, pharmacological therapy, and PDA ligation were also associated with development of BPD or death (high-risk group). After adjusting for confounders, the rate of inotrope use [OR 2.688, 95% CI (1.011-7.142), p = 0.047], duration of large (E3) PDA [OR 1.060, 95% CI (1.005-1.118), p = 0.03], and mechanical ventilation [OR 1.130, 95% CI (1.064-1.200), p = 0.0001] were independently associated with the composite of BPD or death. Among infants who developed BPD, 27 were classified as grade I and 18 as grade II BPD, respectively. Infants with grade II BPD had prolonged MV (20.0 vs. 9.0 days, p = 0.024), prolonged exposure to PDA of any grade (55.8 vs. 36.0 days, p = 0.03), and prolonged exposure to large (E3) PDA compared with infants with grade I BPD.   Conclusion: Prolonged exposure to a large PDA was associated with severe respiratory morbidity and mortality in preterm infants. The modulator role of early intervention, in the most pathologic shunts, on severe respiratory morbidity in preterm infants should be tested in well-designed clinical trials. What is Known: • Current guidelines recommended against accelerating PDA closure of preterm infants within 2 weeks of life, with low certainty evidence indicating improved long-term outcomes. • Recent studies suggest that conservative approach regarding PDA management has detrimental effects on the respiratory outcomes in a subgroup population. What is New: • Persistent patency of significant PDA is associated with increased risk of BPD/death in extremely preterm infants. • Targeted intervention of PDA is beneficial for the at-risk preterm infants with increased PDA hemodynamic significance.


Assuntos
Displasia Broncopulmonar , Permeabilidade do Canal Arterial , Displasia Broncopulmonar/complicações , Displasia Broncopulmonar/etiologia , Permeabilidade do Canal Arterial/tratamento farmacológico , Humanos , Lactente , Lactente Extremamente Prematuro , Recém-Nascido , Ligadura/efeitos adversos , Morbidade
5.
BMC Pregnancy Childbirth ; 21(1): 527, 2021 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-34303355

RESUMO

BACKGROUND: For most women who have had a previous cesarean section, vaginal birth after cesarean section (VBAC) is a reasonable and safe choice, but which will increase the risk of adverse outcomes such as uterine rupture. In order to reduce the risk, we evaluated the factors that may affect VBAC and and established a model for predicting the success rate of trial of the labor after cesarean section (TOLAC). METHODS: All patients who gave birth at Northwest Women's and Children's Hospital from January 2016 to December 2018, had a history of cesarean section and voluntarily chose the TOLAC were recruited. Among them, 80% of the population was randomly assigned to the training set, while the remaining 20% were assigned to the external validation set. In the training set, univariate and multivariate logistic regression models were used to identify indicators related to successful TOLAC. A nomogram was constructed based on the results of multiple logistic regression analysis, and the selected variables included in the nomogram were used to predict the probability of successfully obtaining TOLAC. The area under the receiver operating characteristic curve was used to judge the predictive ability of the model. RESULTS: A total of 778 pregnant women were included in this study. Among them, 595 (76.48%) successfully underwent TOLAC, whereas 183 (23.52%) failed and switched to cesarean section. In multi-factor logistic regression, parity = 1, pre-pregnancy BMI < 24 kg/m2, cervical score ≥ 5, a history of previous vaginal delivery and neonatal birthweight < 3300 g were associated with the success of TOLAC. The area under the receiver operating characteristic curve in the prediction and validation models was 0.815 (95% CI: 0.762-0.854) and 0.730 (95% CI: 0.652-0.808), respectively, indicating that the nomogram prediction model had medium discriminative power. CONCLUSION: The TOLAC was useful to reducing the cesarean section rate. Being primiparous, not overweight or obese, having a cervical score ≥ 5, a history of previous vaginal delivery or neonatal birthweight < 3300 g were protective indicators. In this study, the validated model had an approving predictive ability.


Assuntos
Prova de Trabalho de Parto , Nascimento Vaginal Após Cesárea/estatística & dados numéricos , Adulto , Peso ao Nascer , Recesariana/estatística & dados numéricos , Feminino , Humanos , Modelos Logísticos , Nomogramas , Paridade , Gravidez , Estudos Retrospectivos , Ruptura Uterina/epidemiologia
7.
Transl Pediatr ; 12(12): 2121-2130, 2023 Dec 26.
Artigo em Inglês | MEDLINE | ID: mdl-38197096

RESUMO

Background: Brain injury (BI) is prevalent in premature infants with twin-to-twin transfusion syndrome (TTTS), while risk factors of BI in these patients remains unknown. Our study aims to discern potential risk factors that contribute to BI in premature infants with TTTS. Methods: We conducted a retrospective cohort and analyzed clinical data of premature infants diagnosed with TTTS at the Northwest Women's and Children's Hospital between January 1, 2015 and January 1, 2020. Data included the infants' perinatal information, key postnatal examinations, laboratory tests, and treatments. Results: Of the 84 patients enrolled in the study, 22 (26.2%) were categorized in the BI group and 62 (73.8%) in the non-BI group, based on cranial imaging. No significant differences were found at baseline between the groups in relation to the proportion of males (40.9% vs. 35.5%, P=0.845), median gestational age (weeks) [31.9 (31.5, 33.4) vs. 34.2 (31.6, 35.4), P=0.061], average weight (g) (1,676.4±567.5 vs. 1,845.2±511.7, P=0.200), maternal age (years) [29.5 (26.0, 31.0) vs. 28.5 (27.8, 31.0), P=0.656], the proportion of in-vitro fertilization (9.1% vs. 16.1%, P=0.648), cesarean sections (86.4% vs. 93.5%, P=0.549) or TTTS donor infants (50.0% vs. 51.6%, P=0.897). Multivariate logistic regression analysis indicated that invasive mechanical ventilation [invasive mechanical ventilation (IMV); odds ratio (OR) =4.365; 95% confidence interval (CI): 1.066-17.870; P=0.040], [necrotizing enterocolitis (NEC); OR =8.632; 95% CI: 1.542-48.318; P=0.014], [single intrauterine fetal demise (sIUFD); OR =14.067; 95% CI: 1.298-224.421; P=0.031], and a 5-minute Apgar score <9 (OR =4.663; 95% CI: 1.015-21.419; P=0.048) were strongly associated with BI in TTTS premature infants. Conclusions: Our study identifies IMV, NEC, sIUFD, and a 5-minute Apgar score <9 as independent risk factors for BI in premature infants with TTTS.

8.
J Affect Disord ; 339: 531-537, 2023 10 15.
Artigo em Inglês | MEDLINE | ID: mdl-37463643

RESUMO

Prenatal stress (PS) increases offspring susceptibility to depression, but the underlying mechanism remains unclear. Our previous results showed that PS can affect depression-like behavior in offspring through neurotransmitters and neuroinflammatory substances in the hippocampus and frontal cortex. In recent years there has been increasing evidence for a role of the gut microbiome in depression. The brain-gut axis theory suggests there is a need to further explore the mechanism involving the gut microbiome in the susceptibility of offspring to depression caused by PS. In the present study we used a stress model relevant to depression in which pregnant female rats undergo prenatal restraint stress and the offspring show susceptibility to depression. High-resolution gene sequencing for 16S ribosomal RNA markers and non-targeted metabolomic analysis were used to evaluate the fecal microbiome and the availability of metabolites, respectively. PS was found to induce depressive-like behavior in susceptible offspring (PS-S), as detected by the sucrose preference and forced swimming tests, as well as altering Alpha and Beta diversity. The different microbiota between the PS-S and control groups were mainly involved in membrane transport, carbohydrate metabolism, amino acid metabolism, and replication and repair pathways. In total, 237 and 136 important differential metabolites with significant influence on modeling analysis were obtained under positive and negative modes, respectively. The main canonical pathways found to be altered were glycerophospholipid metabolism and glycerolipid metabolism. These results suggest that gut microbiota might contribute to the onset of PS-induced depression-like behavior by affecting the glycerophospholipid and glycerolipid metabolic pathways.


Assuntos
Microbioma Gastrointestinal , Microbiota , Gravidez , Ratos , Feminino , Animais , Depressão/etiologia , Metaboloma , Metabolômica
9.
Pediatrics ; 151(5)2023 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-37042203

RESUMO

OBJECTIVES: To determine whether use, duration, and types of early antibiotics were associated with neonatal outcomes and late antibiotic use in preterm infants without infection-related diseases. METHODS: This cohort study enrolled infants admitted to 25 tertiary NICUs in China within 24 hours of birth during 2015-2018. Death, discharge, or infection-related morbidities within 7 days of birth; major congenital anomalies; and error data on antibiotic use were excluded. The composite outcome was death or adverse morbidities. Late antibiotic use indicated antibiotics used after 7 days of age. Late antibiotic use rate was total antibiotic use days divided by the days of hospital stay after the first 7 days of life. RESULTS: Among 21 540 infants, 18 302 (85.0%) received early antibiotics. Early antibiotics was related to increased bronchopulmonary dysplasia (BPD) (adjusted odds ratio [aOR], 1.28; 95% confidence interval [CI], 1.05-1.56), late antibiotic use (aOR, 4.64; 95% CI, 4.19-5.14), and late antibiotic use rate (adjusted mean difference, 130 days/1000 patient-days; 95% CI, 112-147). Each additional day of early antibiotics was associated with increased BPD (aOR, 1.07; 95% CI, 1.04-1.10) and late antibiotic use (aOR, 1.41; 95% CI, 1.39-1.43). Broad-spectrum antibiotics showed larger effect size on neonatal outcomes than narrow-spectrum antibiotics. The correlation between early antibiotics and outcomes was significant among noncritical infants but disappeared for critical infants. CONCLUSIONS: Among infants without infection, early antibiotic use was associated with increased risk of BPD and late antibiotic use. Judicious early antibiotic use, especially avoiding prolonged duration and broad-spectrum antibiotics among noncritical infants, may improve neonatal outcomes and overall antibiotic use in NICUs.


Assuntos
Displasia Broncopulmonar , Recém-Nascido Prematuro , Lactente , Recém-Nascido , Humanos , Antibacterianos/efeitos adversos , Estudos de Coortes , Displasia Broncopulmonar/tratamento farmacológico , Displasia Broncopulmonar/epidemiologia , Unidades de Terapia Intensiva Neonatal
10.
Eur J Clin Nutr ; 77(8): 823-832, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37138099

RESUMO

OBJECTIVE: This study compared the clinical effects of two different lipid emulsions in premature infants with gestational age < 32 weeks (VPI) or birth weight < 1500 g (VLBWI) to provide an evidence-based medicine basis for optimizing intravenous lipid emulsion. METHODS: This was a prospective multicenter randomized controlled study. A total of 465 VPIs or VLBWIs, admitted to the neonatal intensive care unit of five tertiary hospitals in China from March 1, 2021 to December 31, 2021, were recruited. All subjects were randomly allocated into two groups, namely, medium-chain triglycerides/long-chain triglycerides (MCT/LCT) group (n = 231) and soybean oil, medium-chain triglycerides, olive oil, and fish oil (SMOF) group (n = 234). Clinical features, biochemical indexes, nutrition support therapy, and complications were analyzed and compared between the two groups. RESULTS: No significant differences were found in perinatal data, hospitalization, parenteral and enteral nutrition support between the two groups (P > 0.05). Compared with the MCT/LCT group, the incidence of neonates with a peak value of total bilirubin (TB) > 5 mg/dL (84/231 [36.4% vs. 60/234 [25.6%]), a peak value of direct bilirubin (DB) ≥ 2 mg/dL (26/231 [11.3% vs. 14/234 [6.0%]), a peak value of alkaline phosphatase (ALP) > 900 IU/L (17/231 [7.4% vs. 7/234 [3.0%]), and a peak value of triglycerides (TG) > 3.4 mmol/L (13/231 [5.6% vs. 4/234[1.7%]]) were lower in the SMOF group (P < 0.05). Univariate analysis showed that in the subgroup analysis of < 28 weeks, the incidence of parenteral nutrition-associated cholestasis (PNAC) and metabolic bone disease of prematurity (MBDP) were lower in the SMOF group (P = 0.043 and 0.029, respectively), whereas no significant differences were present in the incidence of PNAC and MBDP between the two groups at > 28 weeks group (P = 0.177 and 0.991, respectively). Multivariate logistic regression analysis revealed that the incidence of PNAC (aRR: 0.38, 95% confidence interval [CI]: 0.20-0.70, P = 0.002) and MBDP (aRR: 0.12, 95% CI: 0.19-0.81, P = 0.029) in the SMOF group were lower than that in the MCT/LCT group. In addition, no significant differences were recorded in the incidence of patent ductus arteriosus, feeding intolerance, necrotizing enterocolitis (Bell's stage ≥ 2), late-onset sepsis, bronchopulmonary dysplasia, intraventricular hemorrhage, periventricular leukomalacia, retinopathy of prematurity and extrauterine growth retardation between the two groups (P > 0.05). CONCLUSIONS: The application of mixed oil emulsion in VPI or VLBWI can reduce the risk of plasma TB > 5 mg/dL, DB ≥ 2 mg/dL, ALP > 900 IU/L, and TG > 3.4 mmol/L during hospitalization. SMOF has better lipid tolerance, reduces the incidence of PNAC and MBDP, and exerts more benefits in preterm infants with gestational age < 28 weeks.


Assuntos
Colestase , Recém-Nascido Prematuro , Recém-Nascido , Humanos , Estudos Prospectivos , Emulsões Gordurosas Intravenosas/efeitos adversos , Óleo de Soja/efeitos adversos , Azeite de Oliva , Óleos de Peixe , Colestase/etiologia , Triglicerídeos , Bilirrubina , Recém-Nascido de muito Baixo Peso
11.
Nutrition ; 116: 112221, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37832169

RESUMO

OBJECTIVE: The aim of this study was to investigate the effects of soybean, medium-chain triacylglycerols (MCTs), olive oil, and fish oil (SMOF) on short-term clinical outcomes, physical growth, and extrauterine growth retardation (EUGR) in very preterm infants. METHODS: This was a multicenter retrospective cohort study of very preterm infants hospitalized in neonatal intensive care units at five tertiary hospitals in China between January 2021 and December 2021. According to the type of fat emulsion used in parenteral nutrition (PN), eligible very preterm infants were divided into the MCTs/long-chain triacylglycerol (MCT/LCT) group and SMOF group. Change in weight z-score (weight Δz) between measurements at birth and at 36 wk of postmenstrual age or at discharge, the incidence of EUGR, and short-term clinical outcomes between the two groups were compared and analyzed. RESULTS: We enrolled 409 very preterm infants, including 205 in the MCT/LCT group and 204 in the SMOF group. Univariate analysis showed that infants in the SMOF group had significantly longer duration of invasive mechanical ventilation and PN, longer days to reach total enteral nutrition, and a higher proportion of maximum weight loss than those in MCT/LCT group (all P < 0.05). After adjusting for the confounding variables, multifactorial logistic regression analysis of short-term clinical outcomes showed that SMOF had protective effects on PN-associated cholestasis (odds ratio [OR], 0.470; 95% confidence interval [CI], 0.266-0.831) and metabolic bone disease of prematurity (OR, 0.263; 95% CI, 0.078-0.880). Additionally, SMOF was an independent risk factor for lower weight growth velocity (ß = -0.733; 95% CI, -1.452 to -0.015) but had no effect on the incidence of EUGR (OR, 1.567; 95% CI, 0.912 to -2.693). CONCLUSION: Compared with MCT/LCT, SMOF can reduce the risk for PN-associated cholestasis and metabolic bone disease of prematurity in very preterm infants and has a negative effect on growth velocity but has no effect on the incidence of EUGR.


Assuntos
Doenças Ósseas Metabólicas , Colestase , Doenças do Prematuro , Lactente , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Emulsões , Estudos Retrospectivos , Óleo de Soja , Óleos de Peixe , Retardo do Crescimento Fetal , Doenças do Prematuro/epidemiologia , Doenças do Prematuro/prevenção & controle , Triglicerídeos , Emulsões Gordurosas Intravenosas/efeitos adversos
12.
J Pediatr Endocrinol Metab ; 35(3): 387-391, 2022 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-35026061

RESUMO

OBJECTIVES: Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism. It is mainly caused by a deficiency in phenylalanine hydroxylase (PAH) and frequently diagnosed with Sanger sequencing. To some extent, allelic dropout can explain the inconsistency in genotype and phenotype. METHODS: Three families were evaluated through DNA sequence analysis, multiplex ligation-dependent probe amplification (MLPA) and prenatal diagnosis technologies. The possibility of inconsistency in phenotype and genotype with c.331C>T variant was analysed. RESULTS: Through pedigree analysis, three mothers carried a homozygous c.331C>T variant, which was a false-positive result. New primers were used, and this error was caused by allelic dropout. In this case, c.158G>A was likely a benign variant. CONCLUSIONS: Sequence variants in primer-binding regions could cause allelic dropout, creating unpredictable errors in genotyping. Our results emphasised the need for careful measures to treat genotype-phenotype inconsistencies.


Assuntos
Fenilalanina Hidroxilase , Fenilcetonúrias , Alelos , Feminino , Genótipo , Humanos , Mutação , Fenótipo , Fenilalanina Hidroxilase/genética , Fenilalanina Hidroxilase/metabolismo , Fenilcetonúrias/diagnóstico , Fenilcetonúrias/genética , Gravidez
13.
Front Neurosci ; 16: 1025572, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36340787

RESUMO

Background: Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder characterized by hyperammonaemia. The biochemical measurement of the intermediate metabolites is helpful for CPS1D diagnosis; it however cannot distinguish CPS1D from N-acetylglutamate synthetase deficiency. Therefore, next-generation sequencing (NGS) is often essential for the accurate diagnosis of CPS1D. Methods: NGS was performed to identify candidate gene variants of CPS1D in a Asian neonatal patient presented with poor feeding, reduced activity, tachypnea, lethargy, and convulsions. The potential pathogenicity of the identified variants was predicted by various types of bioinformatical analyses, including evolution conservation, domain and 3D structure simulations. Results: Compound heterozygosity of CPS1D were identified. One was in exon 24 with a novel heterozygous missense variant c.2947C > T (p.P983S), and another was previously reported in exon 20 with c.2548C > T (p.R850C). Both variants were predicted to be deleterious. Conservation analysis and structural modeling showed that the two substituted amino acids were highly evolutionarily conserved, resulting in potential decreases of the binding pocket stability and the partial loss of enzyme activity. Conclusion: In this study, two pathogenic missense variants were identified with NGS, expanding the variants pectrum of the CPS1 gene. The variants and related structural knowledge of CPS enzyme demonstrate the applicability for the accurate diagnosis of CPS1D.

14.
Front Pediatr ; 10: 943244, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36052367

RESUMO

Background: Previous studies demonstrated high rates of discharge against medical advice (DAMA) among very preterm infants (VPIs) in China. Objectives: The aim of this study was to investigate the concurrent incidence, variation, and predictors of DAMA, along with the effect of DAMA on mortality of VPIs in China using data from the Chinese Neonatal Network (CHNN). Methods: All infants born at 24-31 completed weeks' gestation and admitted to 57 CHNN neonatal intensive care units (NICUs) in 2019 were included for this cohort study, excluding infants with major congenital anomalies. Patient information was prospectively collected using the CHNN database. Multivariable log-linear regression analysis was used to assess the association of perinatal factors and DAMA. Results: A total of 9,442 infants born at 24-31 completed weeks' gestation and admitted to 57 CHNN participating sites in 2019 were included in the study. Overall, 1,341 infants (14.2%) were discharged against medical advice. Rates of DAMA decreased with increasing gestational age (GA), and infants with lower GA were discharged earlier. DAMA infants had significantly higher rates of necrotizing enterocolitis, severe brain impairment, and bronchopulmonary dysplasia than non-DAMA infants. A total of 58.2% DAMA infants were predicted to die after discharge. The attributable risk percentage of mortality among DAMA infants was 92.4%. Younger maternal age, lower gestational age, small for gestational age, and Apgar score ≤3 at 5 min were independently associated with an increased risk of DAMA, while infants with antenatal steroids were less likely to be DAMA. Conclusion: The rate of DAMA in preterm infants between 24 and 31 weeks' gestation remained high in China with a significant impact on the mortality rates. Continuous efforts to reduce DAMA would result in substantial improvement of outcomes for VPIs in China.

15.
Front Pediatr ; 9: 760646, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34869117

RESUMO

Background: To compare outcomes and care practices of preterm infants born at <34 weeks' gestation in the different regions of China from 2015 to 2018. Methods: This cohort study enrolled all infants born at <34 weeks and admitted to 25 tertiary neonatal intensive care units across China from May 1st, 2015, to April 30th, 2018. The participating hospitals were categorized into three groups according to their distinct geographic locations: eastern China, central China, and western China. Multilevel mixed-effects logistic regression models were used to assess the independent association between neonatal outcomes and regions. Results: A total of 27,532 infants at <34 weeks' gestation were enrolled in our study. Overall, 14,178 (51.5%) infants were from 12 hospitals in eastern China, 8,069 (29.3%) from 9 hospitals in central China, and 5,285 (19.2%) from 4 hospitals in western China. Infants in eastern China had the lowest rates of mortality or any morbidity (23.3%), overall mortality (7.6%), in-hospital mortality (3.7%), and discharge against medical advice (DAMA, 6.3%), compared with central (27.8, 11.3, 5.0, and 10.6%, respectively) and western China (37.4, 19.4, 7.7, and 19.4%, respectively). Multilevel mixed-effects logistic regression showed that infants in western China were exposed to the highest risks of mortality or any morbidity, overall mortality, in-hospital mortality, and DAMA. Significant variations of care practices existed in three regions. Infants in central China had the longest duration of the first course of invasive ventilation, the lowest rate of continuous positive airway pressure within 24 h after birth, the lowest rate of breast milk feeding, the latest initiation of feeds, and the longest duration of total parenteral nutrition among the three regions. Conclusions: We identified marked disparities in outcomes and clinical care practices of preterm infants born at <34 weeks' gestation in different regions of China. Targeted quality improvement efforts are needed to improve the outcomes of premature infants in different regions of China.

16.
Brain Behav ; 11(10): e2233, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34520625

RESUMO

INTRODUCTION: Prenatal stress (PS) can cause depression in offspring. However, the underlying biological mechanism of these influences is still unclear. This work was implemented to investigate the molecular mechanisms of depressive-like behavior of offspring rats insulted with PS. METHODS: Relative quantitative phosphoproteomics of the hippocampus of PS susceptibility (PS-S) and control (CON) rat offspring was performed using liquid chromatography-tandem mass spectrometry to confirm known pathways and to identify new mechanisms involved in depression. RESULTS: A total of 6790 phosphopeptides, 9817 phosphorylation sites, and 2978 phosphoproteins were detected. Among the 2978 phosphoproteins, 1760 (59.09%) had more than two phosphorylated sites, the ENSRNOP00000023460 protein had more than 117 phosphorylated sites, and the average distribution of modification sites per 100 amino acids was 2.97. There were 197 different phosphopeptides, including 140 increased phosphopeptides and 57 decreased phosphopeptides in the PS-S offspring rats, compared to the CON offspring rats. These differential phosphopeptides corresponded to 100 upregulated and 44 downregulated phosphoproteins, respectively. Gene ontology enrichment analysis revealed that these different phosphoproteins in the top five enriched terms in the cellular component, molecular function, and biological proces categories were involved in a total of 35 different phosphoproteins, and these phosphoproteins were mainly related to myelin-, microtubule- and synapse-associated proteins. The enrichment of Kyoto Encyclopedia of Genes and Genome pathways was found to be involved in many essential biological pathways, and the top five pathways included amphetamine addiction, insulin secretion, Cushing syndrome, and the circadian entrainment signaling pathway. These first five pathways were related to nine phosphoproteins, including Adcy9, Apc, Cacna1c, Camk2a, Camk2b, Camk2g, Ctnnd2, Grin2a, and Stx1a. The full data are available via ProteomeXchange with identifier PXD019117. CONCLUSION: We preliminarily identified 144 different phosphoproteins involved in myelin, microtubule, and synapse formation and plasticity in the hippocampus of susceptible offspring rats exposed to PS.


Assuntos
Hipocampo , Fosfoproteínas , Animais , Canais de Cálcio Tipo L , Cromatografia Líquida , Feminino , Hipocampo/metabolismo , Espectrometria de Massas , Fosfoproteínas/genética , Fosfoproteínas/metabolismo , Fosforilação , Gravidez , Ratos , Ratos Sprague-Dawley
17.
Medicine (Baltimore) ; 97(22): e10787, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29851786

RESUMO

INTRODUCTION: This case study is concerning the meticulous observation of the moving process and track of 2 ingested needles using interval x-ray radiography, trying to localize the foreign bodies and reduce unnecessary exploration of digestive tract. CASE PRESENTATION: An unusual case of a 1-year, 9-month-old female baby, with incarcerated hernia perforation caused by sewing needles with sharp ends, was reported herein. The patient had swallowed 2 sewing needles. One needle was excreted uneventfully after 8 days. On the contrary, the other needle stabbed the ileocecal junction wall into the right side of inguinal hernia sac after 9 days, and the patient received successful operation management. Interval x-ray confirmed that 1 needle-like foreign body moving down in 8 days until excretion along with feces. However, the other pierced into the incarcerated hernia. Preoperative x-ray radiography successfully monitored the moving process and tract of the sewing needles. Considering the penetrating-migrating nature of the foreign bodies, once the sharp-pointed objects were located, they should be removed as the mortality and risk of related complications may be increased. CONCLUSION: Interval x-ray radiography represents a meticulous preoperative monitoring method of the moving process and tract of needle-like foreign bodies. Interval x-ray with real-time images accurately detecting the moving foreign bodies could be help to reduce the unnecessary exploration of digestive tract and subsequently prevent possible complications. Based on the basic findings from the interval x-ray, treatment choices of endoscopic removal and surgical intervention may be attempted.


Assuntos
Corpos Estranhos/diagnóstico por imagem , Migração de Corpo Estranho/diagnóstico por imagem , Hérnia Inguinal/complicações , Perfuração Intestinal/complicações , Ingestão de Alimentos , Feminino , Corpos Estranhos/complicações , Corpos Estranhos/cirurgia , Migração de Corpo Estranho/complicações , Migração de Corpo Estranho/cirurgia , Hérnia Inguinal/patologia , Humanos , Íleo/patologia , Lactente , Perfuração Intestinal/patologia , Agulhas , Radiografia/métodos , Resultado do Tratamento , Ultrassonografia/métodos
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