Objective To compare the clinical efficacy of nasal intermittent positive pressure ventilation (NIPPV) and heated humidified high flow nasal cannula (HHHFNC) in the treatment of respiratory distress syndrome (RDS) among very low birth weight (VLBW) preterm infants.Methods A total of 89 very low birth weight premature infants with respiratory distress syndrome (RDS) who were randomly administered with NIPPV (n=46) and HHHFNC (n=43) as an initial respiratory support. The incidence of initial treatment failure, the usage of pulmonary surfactant (PS), the parameters of respiratory support treatment and the incidence of complications were compared between the two groups.Results There were no significant differences between the NIPPV and HHHFNC groups in the following items:the rate of intubation within 72 hours, rate of PS use, duration of invasive or non-invasive mechanical ventilation, duration of oxygen therapy, and incidence rates of severe apnea and pneumonia (P > 0.05). There were also no significant differences in the incidence rates of bronchopulmonary dysplasia, necrotizing enterocolitis, retinopathy of prematurity, patent ductus arteriosus, intracranial hemorrhage, and air leak between the two group (P > 0.05). The incidence rate of nose injury in the NIPPV group was higher than that in the HHHFNC group (P < 0.05).Conclusions As an initial respiratory support for very low birth weight preterm infants with RDS, HHHFNC has a similar clinical effect as NIPPV, suggesting that HHHFNC is a safe and effective clinical option as a non-invasive ventilation treatment.

Objective To explore the effect of prone positioning on respiratory function in very preterm infants undergoing mechanical ventilation.Methods A total of 83 very preterm infants treated with mechanical ventilation were enrolled in the study and were randomly assigned to supine group and prone group. Four infants withdrew from the study and 79 infants completed treatment and observation (37 in the supine group and 42 in the prone group). Infants in both groups were mechanically ventilated in a volume assist-control mode. Infants in the prone group were ventilated in the supine position for 4 hours and in the prone position for 2 hours. Ventilator parameters, arterial blood gas analysis, and vital signs were recorded before grouping, every 6 hours in the supine group, and every hour after conversion into the prone position in the prone group, respectively.Results Fraction of inspired oxygen (FiO₂), peak inspiratory pressure, mean inspiratory pressure, and duration of ventilation were significantly lower in the prone group than in the supine group (P < 0.05); there were no significant differences in tidal volume or positive end-expiratory pressure between the two groups (P > 0.05). The prone group had a significantly higher PO₂/FiO₂ ratio but significantly lower oxygenation index and respiratory rate than the supine group (P < 0.05). There were no significant differences in arterial oxygen tension, pH, base excess, heart rate, or mean blood pressure between the two groups (P > 0.05).Conclusions Alternating ventilation between the prone position and supine position can improve oxygenation function, decrease the fraction of inspired oxygen, and shorten the duration of mechanical ventilation in very preterm infants undergoing mechanical ventilation.

Objective To study the effect of golden-hour body temperature bundle management strategy on admission temperature and clinical outcome in preterm infants with a gestational age of < 34 weeks after birth.Methods The preterm infants who were born in the delivery room of the West China Second University Hospital of Sichuan University and admitted to the department of neonatology of this hospital within 1 hour after birth from December 2015 to June 2016 and from January to May, 2017 were enrolled. The 173 preterm infants who were admitted from January to May, 2017 were enrolled as the intervention group and were given golden-hour body temperature bundle management. The 164 preterm infants who were admitted from December 2015 to June 2016 were enrolled as the control group and were given conventional body temperature management.Results The intervention group had a significantly higher mean admission temperature than the control group (36.4±0.4℃ vs 35.3±0.6℃; P < 0.001). The incidence rate of hypothermia on admission in the intervention group was significantly lower than that in the control group (56.6% vs 97.6%; P < 0.001). The intervention group had a significantly lower incidence rate of intracranial hemorrhage within one week after admission than the control group (15.0% vs 31.7%; P < 0.05).Conclusions Golden-hour body temperature bundle management for preterm infants within one hour after birth can reduce the incidence of hypothermia on admission and improve clinical outcome.

Objective To explore the effect of intrauterine growth retardation (IUGR) on insulin sensitivity in neonates and the relationship between insulin sensitivity and plasma adiponectin level.Methods Eighty-two term neonates with IUGR and 90 term neonates born appropriate for gestational age (AGA) were enrolled. Weight, height, head circumference and abdomen circumference of the neonates were measured within 24 hours after birth. Fasting serum glucose (FG), triglyceride (TG), high-density lipoprotein (HDL), low-density lipoprotein (LDL), plasma insulin and adiponectin were detected in two groups on the 7th day after birth. Homeostasis model assessment for insulin resistance (HOMA-IR) index and insulin sensitivity index (ISI) were calculated.Results There were no significant differences in the levels of FG, TG, HDL and LDL between the IUGR and AGA groups (P > 0.05). The plasma insulin level in the IUGR group was higher than that in the AGA group, but the plasma adiponectin level was lower than that in the AGA group (P < 0.05). HOMA-IR index in the IUGR group was higher than that in the AGA group, but ISI was lower than that in the AGA group (P < 0.05). Both Pearson correlation analysis and multiple linear regression analysis showed HOMA-IR index was negatively correlated with plasma adiponectin level and birth weight (P < 0.05).Conclusions The neonates with IUGR display a higher plasma insulin level and decreased insulin sensitivity. The decreased plasma adiponectin level may be associated with the decreased insulin sensitivity.

Objective To investigate the plasma concentration of endogenous morphine and the value of endogenous morphine in predicting shock, death, and multiple organ dysfunction syndrome (MODS) in children with sepsis.Methods A total of 31 children with sepsis who met the diagnostic criteria were enrolled. According to the presence or absence of shock, they were divided into non-shock group with 19 children and shock group with 12 children. According to the outcome, they were divided into survival group with 22 children and death group with 9 children. According to the presence or absence of MODS, they were divided into non-MODS group with 13 children and MODS group with 18 children. In addition, 16 children with common infection and 31 who underwent physical examination were enrolled as controls. High-performance liquid chromatography-mass spectrometry was used to measure the plasma concentration of endogenous morphine. The receiver operating characteristic (ROC) curve was used to evaluate the value of endogenous morphine in predicting shock, death, and MODS in children with sepsis.Results No endogenous morphine was detected in the healthy control group. Endogenous morphine was detected in 3 children from the common infection group and in all of 31 children with sepsis. The shock group had a significantly higher plasma concentration of endogenous morphine than the non-shock group (P < 0.05). The death group had a significantly higher plasma concentration of endogenous morphine than the survival group (P < 0.05). The MODS group had a significantly higher plasma concentration of endogenous morphine than the non-MODS group (P < 0.05). The ROC curve showed that endogenous morphine had certain value in predicting shock, death, and MODS in children with sepsis (P < 0.05).Conclusions There is a significant increase in the plasma concentration of endogenous morphine in children with sepsis, and endogenous morphine has a good value in predicting the risk of shock, death, and MODS.

Objective To study the clinical features of macrolide-resistant Mycoplasma pneumoniae pneumonia and its treatment regimens in children.Methods The samples of throat swab or bronchoalveolar lavage fluid were collected from 136 children with Mycoplasma pneumoniae pneumonia. Quantitative real-time PCR was used to detect 2063/2064 A:G mutation in 23S rRNA, and according to such results, the children were divided into drug-resistance group with 81 children and sensitive group with 55 children. The two groups were compared in terms of age composition, respiratory symptoms, extrapulmonary complications, laboratory markers, imaging changes, treatment regimens, and length of hospital stay.Results Compared with the sensitive group, the drug-resistance group had significantly longer duration of pyrexia and severe fever, a significantly higher percentage of children with reduced blood oxygen saturation, and significantly higher levels of alanine aminotransferase (ALT) and lactate dehydrogenase (LDH) (P < 0.05). The conventional azithromycin treatment had a good clinical effect in the sensitive group, while corticosteroid therapy was usually needed in the drug-resistance group.Conclusions Macrolide-resistant Mycoplasma pneumoniae infection cannot be identified based on a single clinical feature, but prolonged duration of pyrexia and severe fever, reduced blood oxygen saturation, and increased ALT and LDH can suggest the presence of this disease. Azithromycin combined with glucocorticoids may be a good treatment regimen for children with macrolide-resistant Mycoplasma pneumoniae pneumonia.

Objective To observe the effects of L-carnitine treatment on serum levels of brain natriuretic peptide (BNP) and N-terminal pro-BNP (NT-proBNP) and cardiac function in children with heart dysfunction and severe hand-foot-mouth disease (HFMD).Methods A total of 120 children with severe HFMD were enrolled and randomly and equally divided into routine treatment group and L-carnitine treatment group. Thirty healthy children served as the control group. HFMD patients were given anti-fever and antiviral treatment as the basic treatment, while the patients in the L-carnitine treatment group were given L-carnitine as an adjuvant treatment to the basic treatment. Treatment outcomes were observed in the two groups. For all the subjects, serum levels of BNP and NT-proBNP and cardiac function parameters including left ventricular ejection fraction (LVEF), fractional shortening (FS), and cardiac index (CI) were measured at different time points before and after treatment.Results Before treatment, HFMD patients had significantly higher serum levels of BNP and NT-proBNP and heart rate but significantly lower LVEF, FS, and CI compared with the control group (P < 0.05). After treatment, the L-carnitine treatment group had a significantly higher response rate than the routine treatment group (P < 0.05). After 3 days of treatment, the serum levels of BNP and NT-proBNP, LVEF, FS, and CI were significantly reduced in the L-carnitine group (P < 0.05); the L-carnitine group had significantly lower serum levels of BNP and NT-proBNP, LVEF, FS, and CI than the routine treatment group (P < 0.05); there were no significant differences in the serum levels of BNP and NT-proBNP, LVEF, FS, or CI between the L-carnitine treatment and control groups (P > 0.05). After 5 days of treatment, there were no significant differences in the serum levels of BNP and NT-proBNP, LVEF, FS, or CI between the L-carnitine treatment and routine treatment groups (P > 0.05). Heart rate recovery was significantly slower in the routine treatment group than in the L-carnitine treatment group (P < 0.05).Conclusions As an adjuvant therapy for severe HFMD, L-carnitine treatment has satisfactory short-term efficacy in reducing the serum levels of BNP and NT-proBNP and improving cardiac function, thus improving clinical outcomes.

Objective To study the association of polymorphisms of FokI rs2228570 in the vitamin D receptor (VDR) gene and TMPRSS6 rs855791 with cow's milk protein allergy (CMPA) in children.Methods Quantitative real-time PCR was used to analyze the single nucleotide polymorphisms of FokI rs2228570 in the VDR gene and TMPRSS6 rs855791 in 100 children with CMPA and 100 healthy children (control group). The multivariate logistic regression model was used to identify the risk factors for CMPA.Results There were significant differences in the frequencies of CC, CT, and TT genotypes of TMPRSS6 rs855791 between the CMPA and control groups (P=0.008), and the CMPA group had a significantly higher frequency of TT genotype. The multivariate logistic regression analysis showed that the children with TT genotype of rs855791 had an increased risk of CMPA (OR=3.473, P=0.011). However, there was no significant difference in the genotype distribution of FokI rs2228570 in the VDR gene between the two groups (P=0.686).Conclusions TMPRSS6 rs855791 polymorphism is associated with CMPA in children, and TT genotype may be the susceptible genotype of CMPA. FokI rs2228570 polymorphism is not associated with CMPA.

A case of 3-hydroxyisobutyryl-CoA hydrolase deficiency was reported, and its clinical features, gene mutation characteristics, and diagnosis and treatment were analyzed with reference to related literature. The patient aged 1 year and 6 months had developmental regression and paroxysmal dystonia after pyrexia and diarrhea, and head MRI showed symmetrical lesions in the bilateral basal ganglia. No pathogenic mutation was found in the full-length detection of mitochondrial genome. Nuclear gene detection of mitochondrial-related diseases found new compound heterozygous mutations in the HIBCH gene, i.e., c.439-2A > G and c.958A > G (p.K320E), which were inherited from his father and mother, respectively. The boy was given cocktail therapy, dietary valine restriction, and symptomatic treatment. After 2 weeks of treatment, there were improvements in dystonia and motor and intellectual development.

Supernumerary marker chromosome 15 is a rare chromosome abnormality. This paper reports the clinical diagnosis and treatment, as well as genetic defects, of a child with supernumerary marker chromosome 15. The patient was a 9.5-year-old girl who had mental and motor retardation since infancy, breast development at the age of 7 years, and seizures at the age of 8.5 years. Seizures occurred with various features and could not be controlled by a variety of antiepileptic drugs. No abnormalities were found by brain magnetic resonance imaging. Electroencephalogram showed frequent epileptiform discharges. G-banding karyotype analysis, fluorescence in situ hybridization, methylation-specific multiplex ligation-dependent probe amplification, and array comparative genomic hybridization identified a de novo 15q duplication in the patient. The maternal copy number increased in the 15q11-13 region. The form of genome rearrangement was 47,XX,+inv dup(15)(pter to q13:q13 to pter). The increased copy number in the 15q11-13 region is closely related to mental retardation, intractable epilepsy, and central precocious puberty. High-resolution karyotype analysis is recommended for children with unexplained mental retardation and epilepsy.

Objective To study the value of Pediatric Early Warning Score (PEWS) in identifying the condition of critically ill children.Methods A total of 120 children who were transferred to the pediatric intensive care unit (PICU) from the general ward during hospitalization or admitted to the PICU after emergency treatment in the Xiangya Hospital of Central South University from January to December, 2016 were enrolled as the PICU group. The other 120 children who were admitted to the general ward in the hospital were used as the control group. According to the disease type, the PICU group was further divided into two subgroups:respiratory/circulatory system diseases (n=55) and nervous/other system diseases (n=65). The PEWS score on admission was recorded, and the receiver operating characteristic (ROC) curve was used to analyze the value of PEWS in evaluating patients' condition.Results The PICU group had a significantly higher PEWS score than the control group (P < 0.05). The respiratory/circulatory system disease subgroup had a significantly higher PEWS score than the nervous/other system disease subgroup (P < 0.05). In predicting whether the child was admitted to the PICU, PEWS had a sensitivity of 85%, a specificity of 95%, and an area under the ROC curve (AUC) of 0.951 (95% confidence interval:0.923-0.980) at the optimal cut-off value of 3.5 (PEWS score). The AUC of PEWS was 0.768 in the nervous/other system disease subgroup and 0.968 in the respiratory/circulatory system disease subgroup. The mortality rate of children with a PEWS score of > 6, 4-6 and ≤ 3 was 40%, 21% and 0 respectively (P < 0.001).Conclusions PEWS can well identify disease severity in critically ill children, and it has different sensitivities in children with different varieties of diseases. PEWS has a good value in predicting children's prognosis.

Objective To investigate the developmental level of joint attention ability in children aged 16-30 months and factors influencing the developmental level.Methods A questionnaire survey was performed among 1 675 children aged 16-30 months who visited the Department of Child Health Care in Guangdong Women and Children's Hospital between September and December, 2016 to investigate their joint attention ability and related influencing factors.Results Of the 1 675 children, 1 579 (94.27%) had reactive joint attention ability at the age of 16-30 months, and 1 428 (85.25%) had active joint attention ability. The percentages of children with reactive joint attention ability and active joint attention ability in boys were lower than in girls (P < 0.001). Mother's age, father's occupation, annual family income, way of conception, intended or unintended pregnancy, and mode of delivery were factors influencing the total score of joint attention ability and the scores of reactive/active joint attention ability (P < 0.05).Conclusions Most children have reactive joint attention ability and active joint attention ability at the age of 16-30 months. During this period of age, boys tend to have poorer joint attention ability than girls. Mother's age, father's occupation, annual family income, way of conception, intended or unintended pregnancy, and mode of delivery are associated with the development of joint attention.

Objective To investigate the current status of social anxiety and depression among the fourth-, fifth-, and sixth-grade students in Urumqi, China, and to provide data support for mental health education for primary school students in the future.Methods Stratified cluster random sampling was performed to select 919 fourth-, fifth-, and sixth-grade students from four primary schools for the Han and minority ethnic groups in Urumqi as research subjects. Social Anxiety Scale for Children and Children's Depression Inventory were used to evaluate the current status of social anxiety and depression.Results Among the 919 fourth-, fifth-, and sixth-grade students, the detection rate of social anxiety was 28.5% (262 students). The fourth-grade students had significantly lower scores on each subscale of social anxiety and total score of social anxiety than the fifth-and sixth-grade students (P < 0.05). Girls had significantly higher score on the subscale of fear of negative evaluation and total score of social anxiety than boys (P < 0.05). The Uyghur students had significantly higher scores on each subscale of social anxiety and total score of social anxiety than the Han students and the students of other minority ethnic groups (P < 0.05). Among these fourth-, fifth-, and sixth-grade students, the detection rate of depression was 11.2% (103 students). The fourth-grade students had significantly lower scores on the subscales of negative self-esteem, ineffectiveness, and interpersonal problems and total score of depression than the fifth-and sixth-grade students (P < 0.05). The Uyghur students had significantly higher scores on the subscales of anhedonia and negative mood and total score of depression than the Han students and the students of other minority ethnic groups (P < 0.05).Conclusions There are significant differences in the status of social anxiety and depression among the primary school students with different grades, sexes or ethnic groups in Urumqi. The fifth-and sixth-grade students, girls, and Uyghur students tend to have more serious psychological problems, which should be taken seriously by parents, schools, and the society.

A 14-year-old female (social gender) patient was admitted to the hospital due to severe hypertension for 11 days. The patient had primary amenorrhea. The blood pressure was 146/90 mm Hg. The skin color was slightly black. The development of secondary sexual characteristics was poor. The labia majora could be observed in the vulva. However, the labia minora, clitoris, vagina, and hymen were absent. The levels of renin, cortisol, and sex hormone were low, while the levels of adrenocorticotropic hormone and gonadotropin were high. The levels of blood potassium and aldosterone were both normal. Radiography indicated retardation of bone age. Ultrasound examination revealed that the ovary and uterus were both absent. The patient had bilateral adrenal hyperplasia and cryptorchid testes located in both inguinal canals. The patient had a 46,XY karyotype. Whole genome sequencing revealed two homozygous mutations, c.985T > C and c.987delC, in exon 6 of the CYP17A1 gene of the patient and heterozygous mutations in the same sites of the parents. The patient was diagnosed with congenital adrenal hyperplasia-17α-hydroxylase deficiency. After treatment with hydrocortisone for 2 months, blood pressure returned to normal and the level of adrenocorticotropic hormone was reduced. According to the request of the patient and the parents, hydrocortisone was replaced with estrogen to allow the patient to live as a female. The patient also received surgical excision of cryptorchid testes to prevent gonadal malignancy. It is concluded that in the differential diagnosis of pediatric hypertension, sexual development should be considered and the levels of adrenocorticotropic hormone and cortisol should be evaluated. The rare disease 17α-hydroxylase deficiency should be considered for patients with low-renin hypertension and gonadal dysgenesis.

Necrotizing enterocolitis (NEC) is a common severe gastrointestinal disease in preterm infants. The morbidity and mortality of NEC are negatively correlated with the gestational age and birth weight. In addition to causing a variety of gastrointestinal complications, NEC can also cause neurodevelopmental impairment. Recently, many studies have found that gut microbiome dysbiosis plays an important part in the pathogenesis of NEC. It is helpful to explore the relationship between gut microbiome and NEC for the early diagnosis and severity prediction of NEC. Researchers have paid much attention to the role of probiotics in reducing the morbidity and mortality of NEC in preterm infants. It's controversial as to whether probiotics is effective and safe in clinical application. This article will review the relationship between the development of gut microbiome and NEC in preterm infants, as well as the preventive effect of probiotics on NEC.

The Evidence-based Practice for Improving Quality (EPIQ) method was proposed by Canadian Neonatal Network for high quality health care. The method is characterized by evidence-based, targeted, collaborative and continuous concept. At present it is applied in neonatal intensive care units (NICUs). This review article focuses on the application of the method in NICUs.

Duchenne muscular dystrophy (DMD) is an X-linked recessive hereditary disease caused by mutations in the DMD gene that encodes dystrophin. It is characterized by progressive muscle weakness and degeneration of skeletal muscle and myocardium due to the absence of dystrophin. The disease often occurs at the age of 2-5 years, and most children may die of heart failure or respiratory insufficiency at the age of around 20 years. At present, supportive therapy is often used in clinical practice to improve symptoms, but this cannot improve the outcome of this disease. The development of gene therapy brings new hope to the cure of this disease. This article summarizes gene replacement therapy for DMD, including the research advances in DMD gene transduction technology mediated by adeno-associated virus, utrophin protein upregulation technology, and clustered regularly interspaced short palindromic repeat gene editing technology, and reviews the recommendations to solve the issues of adeno-associated viral load, long-term effective expression of transgenic products, and utrophin protein expression, in order to provide a reference for further research.