Necrotizing enterocolitis (NEC) is a catastrophic disease caused by a variety of factors in neonates, especially preterm infants. Severe NEC has a high fatality rate, and most survivors may face short- and long-term adverse prognosis. Risk factors for NEC include preterm birth, non-breastfeeding, microbial abnormalities in the digestive tract, and ischemia-reperfusion injury. High-resolution abdominal ultrasound helps with the early diagnosis of NEC. The preventive measures for NEC include protecting the intestinal mucosa through nutritional intervention, interfering with intestinal injury signals, changing intestinal microflora, and performing early minimal enteral nutrition. This disease progresses rapidly, and there are still no effective measures. Supportive care is mainly used for the treatment of this disease, and patients in severe conditions may need surgical treatment. Celastrol, lipopolysaccharide, and fecal transplantation help with the treatment of NEC, but further studies are needed to confirm their clinical effects.

OBJECTIVETo investigate the effects of Toll-like receptor blockers TLR2-Ab and TLR4-Ab on the tight junction protein ZO-1 in intestinal epithelial cells in mice, as well as their effects on nuclear factor-kappa B (NF-κB) and tumor necrosis factor-α (TNF-α).

METHODSA total of 32 BALB/C mice were divided into control group, model group, TLR4 treatment group, and TLR2 treatment group, with 8 mice in each group. A mouse model of endotoxemia was established by intraperitoneal injection of lipopolysaccharide. The mice in the TLR4 treatment group and the TLR2 treatment group were given intraperitoneal injection of TLR4 antibody and TLR2 antibody (10 μg each mouse), respectively, and those in the control group were given normal saline. The distal small intestinal tissue was collected, and RT-PCR and immunohistochemistry were used to measure the mRNA and protein expression of ZO-1, NF-κBp65, and TNF-α.

RESULTSCompared with the control group, the model group had significantly lower mRNA and protein expression of ZO-1 and significantly higher mRNA expression of NF-κBp65 and TNF-α (P<0.05). Compared with the model group, the TLR4 treatment group and the TLR2 treatment group had significantly higher mRNA and protein expression of ZO-1 and significantly lower mRNA and protein expression of NF-κBp65 and TNF-α (P<0.05). There were no significant differences in the mRNA and protein expression of ZO-1, NF-κBp65, and TNF-α between the TLR4 treatment group and the TLR2 treatment group (P>0.05).

CONCLUSIONSAnti-TLR2 and anti-TLR4 monoclonal antibodies can reduce the activation of nuclear transcription factors, inhibit the secretion of inflammatory factors, and protect tight junction protein, which is expected to provide new ideas for the treatment of enterogenous infectious diseases.

A 4-month-old girl developed convulsion in the neonatal period, which was focal motor seizures in the initial stage and later became spasm and tonic spasm. And the girl also had psychomotor retardation and recurrent pulmonary infection. Electroencephalography showed hypsarrhythmia, normal results were obtained from cranial magnetic resonance imaging, cerebrospinal fluid examination, and urine organic acid analysis, as well as the spectral analyses of blood ammonia, blood lactic acid, blood amino acids, and acylcarnitines. Gene detection revealed a de novo heterozygous mutation, c.607G>A (p.G203R) , in GNAO1. The girl was then diagnosed with GNAO1-associated early infantile epileptic encephalopathy (EIEE type 17). The seizures were well controlled by topiramate and vigabatrin, but there was no improvement in psychomotor development. She also suffered from recurrent pulmonary infection and died at the age of 12 months due to severe pneumonia. For children with unexplained early infantile epileptic encephalopathy, GNAO1 gene mutations should be considered and genetic tests should be performed as early as possible. Recurrent pulmonary infection should also be taken seriously.

OBJECTIVETo investigate the effect and safety of vitamin A supplementation in children with pneumonia through a systematic review.

METHODSCochrane Library, EMbase, PubMed, China Biology Medicine disc, CNKI, and Wanfang Data were searched for randomized controlled trials (RCTs) on vitamin A as an adjuvant therapy for pneumonia in children. Two reviewers independently screened the studies and evaluated their quality according to the inclusion and exclusion criteria. RevMan5.3 was used for the Meta analysis.

RESULTSA total of 15 RCTs with 3 021 patients were included. The Meta analysis showed that vitamin A supplementation did not reduce the mortality of children with pneumonia (P>0.05), but it increased the overall clinical response rate (P<0.05) and shortened the duration of pyrexia and cough, clearance time of signs and abnormal chest X-ray results, and length of hospital stay (P<0.05). As an adjuvant therapy, vitamin A did not increase the incidence rates of adverse reactions such as nausea, vomiting, diarrhea, allergy, and bregma bulging.

CONCLUSIONSCurrent evidence shows that in the treatment of pneumonia in children, vitamin A supplementation helps to relieve clinical symptoms and signs and shorten the length of hospital stay.The adjuvant therapy does not increase the incidence rates of adverse reactions.

OBJECTIVETo investigate the association between dopamine D4 receptor gene DRD4 exon III 48bp variable number of tandem repeat (VNTR) polymorphism and temperament in school-aged children.

METHODSRandomized cluster sampling was used to select 350 healthy children aged 8-12 years, and a questionnaire survey was performed. Oral epithelial samples were collected from half of these children. The complete questionnaire data of 164 children with a high level of DNA in oral epithelial samples were included in this study. PCR was used for the typing of DRD4 exon III 48bp VNTR, and the effect of this gene and its interaction with the environment on temperament was analyzed.

RESULTSCompared with the children with S-DRD4 genotype, the children with L-DRD4 genotype had significantly lower scores on the four dimensions of activity level, reaction intensity, emotion essence, and persistence (P<0.05). The main effects of mother's rejection/denial (OR=2.281, P<0.05) and sex (OR=2.766, P<0.05) and the interaction between sex and DRD4 exon III 48bp VNTR (OR=0.582, P<0.05) had an influence on activity level. The main effect of DRD4 exon III 48bp VNTR (OR=0.314, P<0.01) and the interaction between this gene and mother's rejection/denial (OR=1.872, P<0.01) had an influence on reaction intensity. The main effect of DRD4 exon III 48bp VNTR (OR=0.420, P<0.05) and mother's rejection/denial (OR=2.236, P<0.05) had an influence on persistence.

CONCLUSIONSDRD4 exon III 48bp VNTR and its interaction with other factors may affect the activity level and reaction intensity of school-aged children.

OBJECTIVETo explore the recognition ability and abnormal processing characteristics to basic emotional faces in the early phase in children with autism spectrum disorders (ASD).

METHODSPhotos of Chinese static faces with four basic emotions (fearful, happy, angry and sad) were used as stimulus. Twenty-five ASD children and twenty-two age- and gender-matched typical developed children (normal controls) were asked to match the emotional faces with words. Event-related potential (ERP) data were recorded concurrently.

RESULTSN170 latencies for total emotion and fearful face in the left temporal region were faster than in the right one in normal controls (P<0.05), but the results were not noted in ASD children. Further, N170 latencies in the left temporal region of ASD children were slower than normal controls for total emotion, fearful and happy faces (P<0.05), and their N170 latencies in the right temporal region were prone to slower than normal controls for angry and fearful faces.

CONCLUSIONSThe holistic perception speed of emotional faces in the early cognitive processing phase in ASD children is slower than normal controls. The lateralized response in the early phase of recognizing emotional faces may be aberrant in children with ASD.

OBJECTIVETo investigate the association between SCN1A rs3812718 polymorphism and generalized epilepsy with febrile seizures plus (GEFS+), and to provide potential molecular targets for the diagnosis and treatment of GEFS+.

METHODSThe iPLEX technique in the MassARRAY system was used to determine SCN1A rs3812718 polymorphism, genotype frequency, and allele frequency in 50 patients with GEFS+ and 50 healthy controls.

RESULTSAs for the frequencies of CC, CT, and TT genotypes in SCN1A rs3812718, there was a significant difference in the frequency of TT genotype between the GEFS+ group and the control group (P<0.05). There was also a significant difference in the frequency of T allele between the two groups (P<0.05). Compared with those carrying CC genotype or C allele, the individuals with CT genotype , TT genotype or T allele had a higher risk of developing GEFS+ (CT/CC: OR=4.05, 95%CI: 1.04-15.69; TT/CC: OR=30.60, 95%CI: 6.46-144.85; T/C: OR=4.64, 95%CI: 2.54-8.48).

CONCLUSIONSSCN1A rs3812718 polymorphism is a risk factor for GEFS+, and the population carrying T allele may have an increased risk of GEFS.

Diagnosis, Differential ; Endophthalmitis ; diagnosis ; diagnostic imaging ; etiology ; pathology ; Humans ; Infant, Newborn ; Male ; Meningoencephalitis ; complications ; diagnosis ; diagnostic imaging ; pathology ; Suppuration ; Tomography, X-Ray Computed

Adolescent ; Cardiomyopathy, Dilated ; diagnosis ; etiology ; physiopathology ; Diagnosis, Differential ; Female ; Graves Disease ; complications ; diagnosis ; physiopathology ; Humans

Adolescent ; Anemia, Aplastic ; blood ; immunology ; Child ; Child, Preschool ; Female ; Humans ; Lymphocyte Subsets ; immunology ; Male ; Retrospective Studies ; Severity of Illness Index ; T-Lymphocytes, Cytotoxic ; immunology ; Th1 Cells ; immunology ; Th2 Cells ; immunology