Newborns in the neonatal intensive care unit (NICU) are highly vulnerable in disasters due to their need for specialized and highly technical support. It is strongly encouraged to prepare for the most likely disaster scenarios for the NICU. During a disaster, neonatal care providers should maintain situational awareness for decision-making, including available equipment, medication, and staffing. Neonatal care providers also should consider the ethical issues and the psychosocial needs of the families and neonatal care staff.

Objective To study the effect of ketogenic diet (KD) on neurobehavioral development, emotional and social behaviors, and life ability in children with global developmental delay (GDD). Methods A prospective case-control study was performed for hospitalized children with GDD, who were randomly divided into KD treatment group (n=40) and conventional treatment group (n=37). The children in both groups were given comprehensive rehabilitation training, and those in the KD treatment group were given modified Atkins diet in addition to the comprehensive rehabilitation training. The children in both groups were assessed with the Gesell Developmental Scale, Chinese version of Urban Infant-Toddler Social and Emotional Assessment (CITSEA)/Achenbach Child Behavior Checklist (CBCL), and Infants-Junior High School Students' Social Life Abilities Scale (S-M scale) before treatment and after 3, 6, and 9 months of treatment. The two groups were compared in terms of the improvements in neurobehavioral development, emotional and social behaviors, and social life ability. Results After 3, 6, and 9 months of treatment, the KD treatment group had significantly greater improvements in the scores of the adaptive, fine motor, and language quotients of the Gesell Developmental Scale compared with the conventional treatment group (P < 0.05); the KD treatment group had significantly greater improvements in CITSEA/CBCL scores than the conventional treatment group (P < 0.05). The KD treatment group had a greater improvement in the score of the S-M scale after 9 months of treatment (P < 0.05). During the KD treatment, 6 children experienced diarrhea and 1 experienced mild urinary stones. Conclusions KD can improve the neurobehavioral development and behavioral and emotional behaviors in children with GDD, and it has few adverse effects.

Objective To investigate the immunological mechanism of prednisone in the treatment of infantile spasm (IS) by evaluating the immune function of IS children before and after treatment. Methods Thirty children with IS were enrolled as IS group. Thirty healthy infants who underwent physical examination were enrolled as healthy control group. Fasting venous blood was collected for both groups before and after prednisone treatment. Chemiluminescence was used to measure serum levels of interleukin-1B (IL-1B), interleukin-2R (IL-2R), interleukin-6 (IL-6), interleukin-8 (IL-8), and tumor necrosis factor-α (TNF-α). Immunoturbidimetric assay was used to measure serum levels of immunoglobulin A (IgA), immunoglobulin M (IgM), and immunoglobulin G (IgG). Flow cytometry was used to measure the percentages of T lymphocyte subsets (CD3⁺, CD4⁺, and CD8⁺). The clinical outcome and electroencephalographic findings were evaluated for all IS children after prednisone treatment. Results The IS group had significantly higher serum levels of IL-2R, IL-8, and TNF-α than the healthy control group before treatment (P < 0.05). The mean number of daily ictal clusters was positively correlated with the levels of IL-2R, IL-8, and TNF-α in IS children, the mean number of total daily seizures was positively correlated with IL-8 level, and any two indices out of IL-2R, IL-8, and TNF-α were positively correlated with each other (P < 0.05). Among the 30 IS children treated with prednisone, 19 achieved seizure control; electroencephalography showed that 18 children achieved complete remission of hyperarrhythmia. After treatment, the IS group had significant reductions in the numbers of daily ictal clusters and total daily seizures, significant improvement in developmental quotient (P < 0.05), and significant reductions in serum levels of IL-2R, L-8, and TNF-α, the percentage of CD4⁺ T lymphocytes, and CD4⁺/CD8⁺ ratio (P < 0.05), as well as a significant increase in the percentage of CD8⁺ T lymphocytes (P < 0.05). Conclusions IS children have immune dysfunction. Prednisone can control seizures in IS children, possibly by regulating and improving immune dysfunction.

Objective To assess the association between serum 25-hydroxyvitamin D[25 (OH)D] levels at birth and bronchopulmonary dysplasia (BPD) in preterm infants. Methods This study recruited preterm infants with gestational age of below 34 weeks who were born between January 2014 and December 2016. These preterm infants were classified into two groups:BPD and control. The association between serum 25 (OH)D levels at birth and BPD was analyzed. Results Serum 25 (OH)D levels in the BPD group was significantly lower than those in the control group[ (37±17 nmol/L vs 47±20 nmol/L; P < 0.05), and the rate of vitamin D deficiency was significantly higher than those in the control group (90.2% vs 74.0%; P < 0.05). The level of serum 25 (OH)D was negatively correlated with the incidence of BPD (r=-0.201, P=0.001). Conclusions Vitamin D deficiency at birth may be associated with BPD in preterm infants, but need to be further studied by multivariate analysis.

Objective To investigate the clinical features of readmitted children with bronchopulmonary dysplasia (BPD) in the first 2 years of life. Methods A retrospective analysis was performed for the clinical data of 242 children with BPD who were readmitted due to recurrent lower respiratory tract infection (LRTI) in the first 2 years of life. Results Among all the 242 children with BPD, 115 (47.5%) had wheezing, and the children aged 1-2 years had a significantly higher incidence rate of wheezing than those aged less than 1 year (P < 0.05). Chest imaging was performed for 193 children, among whom 31 (16.1%) had hyperlucent areas. Pulmonary function examination showed that the BPD children had significantly lower TV/kg, TPEF/TE, VPEF/VE, TEF50 and TEF75, and significantly higher respiratory rate than the controls without respiratory disease (P < 0.05). Bronchoscopy was performed for 28 children, among whom 21 (75%) had airway dysplasia. All the 242 children used inhaled corticosteroids (ICS) and experienced no treatment-related adverse reactions. Six children were given intravenous infusion of human umbilical cord blood mesenchymal stem cells (hUCB-MSCs) and experienced no infusion-related events or adverse reactions, among whom one child successfully stopped oxygen therapy. Conclusions The incidence rate of wheezing increases with the increase in age in children with BPD who are readmitted due to LRTI. Pulmonary function examination shows small airway obstruction, reduced expiratory flow rate in case of low lung capacity, and increased respiratory rate, and most children have airway dysplasia. ICS can be used to inhibit inflammatory response in the acute stage. Infusion of hUCB-MSCs is safe and feasible and may bring some benefits to the recovery from BPD.

Objective To investigate the possible causes of plagiocephaly in infants and the therapeutic effect of postural correction training on plagiocephaly. Methods A total of 101 infants who were diagnosed with plagiocephaly were enrolled. According to the age at diagnosis, these infants were divided into 1-4 month group (31 infants), 5-8 month group (40 infants), and 9-12 month group (30 infants). The possible causes of plagiocephaly were analyzed in three groups. The cranial vault asymmetry index (CVAI) before and after postural correction training was compared in three groups. Results Of the 101 infants, 89 (88.1%) had a sleeping posture in the supine position, and there was no significant difference in the percentage of infants with such posture between the three groups. Compared with the 5-8 month group and the 9-12 month group, the 1-4 month group had significantly higher rate of preterm birth, incidence rate of adverse perinatal factors, and incidence rate of congenital muscular torticollis. The three groups showed a significant decrease in CVAI 3 months after postural correction training (P < 0.001). Compared with the 5-8 month group and the 9-12 month group, the 1-4 month group had a significantly greater change in CVAI after postural correction training (P < 0.001). Conclusions The sleeping posture in the supine position may be associated with the development of plagiocephaly. Adverse perinatal factors, preterm birth, and congenital muscular torticollis as possible causes of plagiocephaly are commonly seen in early infancy. Postural correction training has a significant effect in improving plagiocephaly, especially in early infancy.

Objective To investigate the incidence of diabetic ketoacidosis (DKA) in children with newly diagnosed type 1 diabetes. Methods A retrospective analysis was performed for the clinical data of 224 children with newly diagnosed type 1 diabetes, and according to the presence or absence of DKA, these children were divided into DKA group and non-DKA group, with 112 children in each group. The DKA group was further divided into ≥ 5-year group (65 children) and < 5-year group (47 children), and according to the blood gas parameters, this group was divided into mild group (26 children), moderate group (29 children), and severe group (57 children). The factors influencing the development of DKA were analyzed, as well as the clinical and laboratory features of DKA children with different ages. Results The most common symptoms in these 224 children with type 1 diabetes were polydipsia (86.2%), polyuria (78.6%), and weight loss (57.1%). Compared with the non-DKA group, the DKA group had a significantly higher percentage of children who were aged <5 years, who had low family income, or whose parents had an educational level of senior high school or below. The DKA group had significantly higher levels of random blood glucose and HbA1C and significantly lower levels of pH, HCO₃^-, and C-peptide than the non-DKA group (P < 0.05). There was no significant difference in the percentage of children with severe DKA between the ≥ 5-year group and the < 5-year group (P > 0.05). Compared with the < 5-year group, the ≥ 5-year group sufferred from symptoms for a significantly prolonged period, and had a significantly lower level of random blood glucose and significantly higher levels of HbA1C and C-peptide (P < 0.05). Conclusions DKA has a high incidence rate in children with type 1 diabetes, and the development of DKA is associated with age, parents' educational level, and family income.

Objective To investigate the clinical effect and safety of anti-D immunoglobulin (anti-D) in the treatment of children with newly diagnosed acute immune thrombocytopenia (ITP) through a Meta analysis. Methods PubMed, EMBASE, Cohrane Library, Ovid, CNKI, and Wanfang Data were searched for randomized controlled trials (RCTs) published up to April 2017. Review Manager 5.3 was used for the Meta analysis. Results Seven RCTs were included. The Meta analysis showed that after 72 hours and 7 days of treatment, the intravenous immunoglobulin (IVIG) group had a significantly higher percentage of children who achieved platelet count > 20×10⁹/L than the anti-D group (P < 0.05). There were no significant differences in platelet count after 24 hours, 72 hours, and 7 days of treatment between the anti-D (50 μg/kg) group and the IVIG group (P > 0.05), and there were also no significant differences in platelet count after 24 hours and 7 days of treatment between the 50 μg/kg and 75 μg/kg anti-D groups (P > 0.05). The anti-D group had a significantly greater reduction in the hemoglobin level than the IVIG group after treatment, but did not need transfusion. No children in the anti-D group or the IVIG group experienced serious adverse reactions. Conclusions Intravenous injection of anti-D may have a similar effect as IVIG in improving platelet count in children with acute ITP, but it may be slightly inferior to IVIG in the rate of platelet increase after treatment. The anti-D dose of 50 μg/kg may have a similar effect as 75 μg/kg. The recommended dose of anti-D for treatment of ITP is safe.

Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B or VIPAS39 gene. The aim of this study was to investigate the clinical features and VPS33B gene mutations of an infant with ARC syndrome. A 47-day-old female infant was referred to the hospital with the complaint of jaundiced skin and sclera for 45 days and abnormal liver function for 39 days. The patient had been managed in different hospitals, but the therapeutic effects were unsatisfactory due to undetermined diagnosis. Physical examination showed jaundice of the skin and sclera. Systemic skin was dry with desquamation in the limbs and trunk. There were no positive signs on cardiopulmonary examination. The liver was palpable 2.0 cm under the right subcostal margin. The hips and knees were flexed, and the extension was limited, with low muscular tone in the four limbs. Biochemical analysis demonstrated raised serum total bile acids, bilirubin (predominantly conjugated bilirubin) and transaminases, but the γ-glutamyl transpeptidase level was normal. Routine urine test revealed increased glucose as well as red and white blood cells. On genetic analysis, the infant was proved to be homologous for a VPS33B mutation c.1594C > T (p.R532X). She was definitely diagnosed to have ARC syndrome. Symptomatic and supportive therapy was given, but no improvement was observed, and the infant finally died at 3 months and 29 days of life.

A boy aged 4 years and 2 months was found to have delayed language and motor development, instability of gait, poor eye contact, stereotyped behavior, and seizure at the age of 3 years. Physical examination showed special facial features, including plagiocephaly, blepharoptosis, wide nasal bridge, down-turned mouth corners at both sides, and low-set ears. There were only two knuckles at the little finger of the left hand. The anteroposterior and lateral films of the spine showed scoliosis; echocardiography showed ventricular septal defect; the Gesell Developmental Scale showed delayed language development and moderate intellectual disability; there were no abnormalities in the karyotype; genome-wide SNP arrays found a duplication in 12q24.21 region with a size of 1.03 Mb in chromosome 12, while this was not seen in his parents. The boy was diagnosed with MED13L syndrome. Point mutation, deletion, and duplication in the MED13L gene can lead to MED13L syndrome. The patients with different genotypes may have different phenotypes. Genome-wide SNP arrays may help with the diagnosis of this disease.

Nonketotic hyperglycinemia (NKH) is an autosomal recessive hereditary disease caused by a defect in the glycine cleavage system and is classified into typical and atypical NKH. Atypical NKH has complex manifestations and is difficult to diagnose in clinical practice. This article reports a family of NKH. The parents had normal phenotypes, and the older brother and the younger sister developed this disease in the neonatal period. The older brother manifested as intractable epilepsy, severe spastic diplegia, intellectual disability, an increased level of glycine in blood and cerebrospinal fluid, an increased glycine/creatinine ratio in urine, and an increased ratio of glycine concentration in cerebrospinal fluid and blood. The younger sister manifested as delayed language development, ataxia, chorea, mental and behavior disorders induced by pyrexia, hypotonia, an increased level of glycine in cerebrospinal fluid, and an increased ratio of glycine concentration in cerebrospinal fluid and blood. High-throughput sequencing found a maternal missense mutation, c.3006C > G (p.C1002W), and a paternal nonsense mutation, c.1256C > G (p.S419X), in the GLDC gene in both patients. These two mutations were thought to be pathogenic mutations by a biological software. H293T cells transfected with these two mutants of the GLDC gene had a down-regulated activity of glycine decarboxylase. NKH has various phenotypes, and high-throughput sequencing helps to make a confirmed diagnosis. Atypical NKH is associated with the downregulated activity of glycine decarboxylase caused by gene mutations.

Glycogen storage disease type Ⅱ (GSD Ⅱ) is an autosomal recessive disorder caused by a deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA) and can affect multiple systems including the heart and skeletal muscle. The aim of this study was to investigate three children with GSD Ⅱ confirmed by GAA gene analysis and to report their clinical characteristics and gene mutations. One case was classified as infantile-onset GSD Ⅱ, and two cases as late-onset GSD Ⅱ. The infantile-onset patient (aged 4 months) showed no weight increase and had dyspnea, muscle hypotonia, and increased alanine aminotransferase and creatine kinase; echocardiography showed hypertrophic cardiomyopathy. The late-onset patients (aged 8 years and 13 years respectively) showed persistently elevated liver enzymes; one of them had recurrent respiratory tract infection and restrictive ventilation disorder, and the other case showed significantly increased creatase but normal electromyographic findings. Peripheral blood genetic testing for GAA gene showed six pathogenic mutations in the three cases, and the mutations c.2738C > T and c.568C > T had not been reported. Therefore, peripheral blood genetic testing for GAA gene is an effective diagnostic method.

A boy aged 11 years was admitted due to intermittent weakness and diffculty in walking for 6 years,and hepatomegaly,glycopenia and unconsciousness for 4 years.The laboratory examinations showed severe metabolic acidosis,hypoglycemia,and abnormal liver function.CT scan showed marked liver enlargement with fat density shadow. The boy was given fluid infusion,correction of acidosis,intravenous injection of glucose,L-carnitine,compound vitamin B,and coenzyme Q₁₀,but he was in a persistent coma and it was difficult to correct refractory metabolic acidosis and hypoglycemia.The boy died.Blood and urinary organic acid screening and gene detection confrmed that the boy had late-onset glutaric aciduria type Ⅱ (GAⅡc) caused by electron-transferring-flavoprotein dehydrogenase (ETFDH) gene defect.GAⅡc is an inherited metabolic disease with a low incidence,resulting in a high misdiagnosis rate.GAⅡc should be considered for children with recurrent weakness or reduced activity endurance,hypoglycemia, and marked liver enlargement with abnormal liver function.Urinary organic acid analysis and blood tandem mass spectrometry can help with the early diagnosis of GAⅡc,and ETFDH gene analysis helps to make a confirmed diagnosis.

This article reports 4 girls with clinical manifestations of recurrent cough and anemia. The age of onset was less than 4 years, and three of them had shortness of breath. None of them had acute hemoptysis. All the girls had positive results of hemosiderin test for bronchoalveolar lavage fluid. As for imaging examination, 3 patients had ground-glass opacity, and 1 had interstitial change. Three girls were given the treatment for idiopathic pulmonary hemosiderosis and had no response. Selective bronchial arteriography was performed for the 4 girls and found bronchial artery to pulmonary circulation shunt (BPS). After they were diagnosed with BPS, they were given transcatheter embolization. The girls were followed up for half a year after surgery, and none of them was readmitted due to "cough and anemia". BPS manifests as abnormal shunt between the bronchial artery and the pulmonary artery/vein and has unknown causes. It is rare in children and should be considered for children who were thought to have idiopathic pulmonary hemosiderosis and had poor response to corticosteroid therapy.

No abstract available

Epilepsy is a common nervous system disease. It has been found that the pathogenesis of epilepsy is associated mutations in various genes, including genes encoding voltage-dependent ion channel, genes encoding ligand-gated ion channel, and solute carrier family genes. Different types of epilepsy caused by different mutations have different responses to drugs, and therefore, diagnosis and medication guidance based on genes are new thoughts for developing therapies. With the application of next-generation sequencing technology, more and more genes will be determined, which helps to further study the pathogenic mechanism of mutant genes and provides a basis for precision drug therapy for epilepsy.

The key to the treatment of septic shock is to provide adequate oxygen supply and improve tissue perfusion. Lactate and central venous oxygen saturation (ScvO₂) are commonly used as the indices of oxygen metabolism, but tissue hypoxia may still exist even when lactate and ScvO₂ are within the normal range. Arteriovenous difference in carbon dioxide partial pressure (CO₂ gap) can accurately reflect oxygen delivery when ScvO₂ is in the normal range. This article reviews the advantages and shortages of lactate, lactate clearance rate, ScvO₂, and CO₂ gap in evaluating tissue hypoxia, in order to provide a reference for treatment and severity evaluation of septic shock.