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OBJECTIVE: To investigate the diversity of peripheral blood T cell receptor (TCR) β chain complementarity-determining region 3 (CDR3) based on immune repertoire sequencing in neonates with sepsis and the possible pathogenesis of neonatal sepsis. METHODS: A total of 12 neonates with sepsis were enrolled as the case group, and 9 healthy full-term infants, matched for gestational age, birth weight, and age, were enrolled as the control group. Omega nucleic acid purification kit (SQ blood DNA Kit II) was used to extract DNA from peripheral blood samples, TCR β chain CDR3 was amplified by multiplex PCR, and then high-throughput sequencing was performed for the products to analyze the diversity of TCR β chain CDR3 and the difference in expression. RESULTS: The length and type of TCR β chain CDR3 were similar between the case and control groups, and Gaussian distribution was observed in both groups. With D50 and Shannon-Wiener index as the evaluation indices for diversity, the case group had a significantly lower diversity of TCR β chain CDR3 than the control group (P

OBJECTIVE: To study the change in regional oxygen saturation (rSO(2)) of intestinal tissue in preterm infants with hemodynamically significant patent ductus arteriosus (hsPDA) by near-infrared spectroscopy, and the clinical significance of the change in intestinal oxygen level in preterm infants with hsPDA. METHODS: The preterm infants with patent ductus arteriosus (PDA) who had gestational age

OBJECTIVE: To study the safety and efficacy of magnetic resonance imaging (MRI)-compatible incubator in cranial MRI examination for neonates. METHODS: A total of 120 neonates who were hospitalized in three hospitals and needed to undergo MRI examination were randomly divided into a control group and an experimental group, with 60 neonates in each group. The neonates in the experimental group were transferred with MRI-compatible incubator and underwent cranial MRI examination inside the MRI-compatible incubator, and those in the control group were transferred using a conventional neonatal transfer incubator and then underwent MRI examination outside the incubator. The two groups were compared in terms of the primary efficacy index (total examination time), secondary efficacy indices (times of examination, MRI completion rate on the first day of use), and safety indices (incidence rate of adverse events and vital signs). RESULTS: There were no significant differences in total examination time, times of examination, and MRI completion rate on the first day of use between the two groups (P > 0.05). There were also no significant differences between the two groups in the incidence rate of adverse events and vital signs such as respiratory rate, heart rate, blood pressure, and blood oxygen saturation rate at different time points before and after examination (P > 0.05). CONCLUSIONS: The use of MRI-compatible incubator does not significantly shorten the examination time of cranial MRI, but it does provide a relatively stable environment for examination with acceptable safety. There is a need for further studies with a larger population.

Infantile hydrocephalus (IHC) is commonly related to other central nervous system diseases, which may have adverse effects on prognosis. The causes of IHC are heterogeneous, and the genetic etiologies are not fully understood. This study aimed to analyze the genetic etiologies of an IHC cohort.The data for 110 IHC patients who had received exome sequencing at the Clinical Genetic Center of the Children's Hospital of Fudan University between 2016 and 2019 were reviewed and analyzed retrospectively. An exome-wide association analysis (EWAS) was performed within this cohort using IHC as the study phenotype.Of the 110 IHC patients, a pathogenic or likely pathogenic variant was identified in 16 (15%) patients, spanning 13 genes. The genes were mainly associated with metabolic disorders, brain abnormalities, and genetic syndromes. IHC patients who had unclear clinical etiology were more likely to possess a genetic etiology. Based on previous studies and on our EWAS results, ZEB1, SBF2, and GNAI2 were over-represented among IHC patients and might affect the signaling pathways involved in IHC formation.Our study showed heterogeneous genetic etiologies in an IHC cohort. It is essential to perform genetic testing on IHC patients who have unclear clinical etiology, and genes associated with metabolic disorders, brain abnormalities, and genetic syndromes should be noted. In addition, when aiming to discover IHC susceptibility genes, genes that might influence the signaling pathways involved in IHC formation should be prioritized.

We collected neonatal neurological, clinical, and imaging data to study the neurological manifestations and imaging characteristics of neonates with coronavirus disease 2019 (COVID-19).This case-control study included newborns diagnosed with COVID-19 in Wuhan, China from January 2020 to July 2020. All included newborns had complete neurological evaluations and head magnetic resonance imaging. We normalized the extracted T2-weighted imaging data to a standard neonate template space, and segmented them into gray matter, white matter, and cerebrospinal fluid. The comparison of gray matter volume was conducted between the two groups.A total of five neonates with COVID-19 were included in this study. The median reflex scores were 2 points lower in the infected group than in the control group (P = 0.0094), and the median orientation and behavior scores were 2.5 points lower in the infected group than in the control group (P = 0.0008). There were also significant differences between the two groups in the total scale score (P = 0.0426). The caudate nucleus, parahippocampal gyrus, and thalamus had the strongest correlations with the Hammersmith neonatal neurologic examination (HNNE) score, and the absolute correlation coefficients between the gray matter volumes and each part of the HNNE score were all almost greater than 0.5.We first compared the neurological performance of neonates with and without COVID-19 by quantitative neuroimaging and neurological examination methods. Considering the limited numbers of patients, more studies focusing on the structural or functional aspects of the virus in the central nervous system in different age groups will be carried out in the future.

To develop a disease model for the human Alstrom Syndrome (AS), we used the episomal reprogramming system and CRISPR/Cas9 technology to generate an induced pluripotent stem cell (iPSC) line with the compound heterozygous patient mutation (ALMS1 c.3902C > A, c.6436C > T) along with an isogenic gene-corrected control iPSC line. Both iPSC lines showed normal karyotype, expressed pluripotent markers, and differentiated into cells of three embryonic germ layer. These AS mutant and isogenic iPSC control line will be of great use in investigating the disease mechanisms, drug screening and treatment in patients.

Randomized controlled trials have demonstrated the safety and efficacy of mild hypothermia in the treatment of neonatal hypoxic-ischemic encephalopathy (HIE), which can reduce mortality or the incidence of severe neurological sequelae. Mild hypothermia has been used in the neonatal intensive care unit (NICU) as a routine treatment method for neonatal HIE in many developed countries, and it is increasingly applied in some NICUs in China. However, 40%-50% of the neonates treated with mild hypothermia die or develop severe neurological disability. Thus, to achieve the best neuroprotective effect, issues such as selection of patients with indications for mild hypothermia, cooling method, optimal time for mild hypothermia, duration of mild hypothermia, optimal target temperature, and the safety and long-term effects of mild hypothermia combined with other therapies, need to be further discussed. This article reviews the latest progress in clinical research on these issues.

To summarize and review the clinical characteristics including clinical features, prenatal characteristics, diagnosis, treatments and short-term outcomes of the twin anemia-polycythemia sequence (TAPS) to improve the recognition of the disease.The clinical data of one case with twin anemia-polycythemia sequence and the reports of 15 cases seen in the past 5 years were reviewed and analyzed.There was an increasing number of reports of cases with TAPS. Prenatal manifestation: among the 16 cases, TAPS occurred in 13 cases naturally and in 3 cases occurred after laser treatment. Amniotic fluid volume showed no significant difference in 16 cases. Middle cerebral artery peak systolic velocity (MCA-PSV)1.5 multiples of the median (MoM) in the donor were 11/16 cases and 3/16 cases were not tested. MCA-PSV1.0 MoM in the recipient were seen in 10/16 cases and in 3/16 cases MCA-PSV was not tested. Hydrops fetalis was found in 6/16 cases. Intrauterine intervention: intrauterine blood transfusion was performed in 4/16 cases, fetoscopic laser occlusion of chorioangiopagus vessels was performed in 4/16 cases, umbilical cord occlusion selective feticide was done in 2/16 cases and intrauterine hemodilution in the recipient was performed in 1/16 case. Postnatal manifestation: average hemoglobin concentration in the anemic neonate was 95 g/L and in the polycythemic one was 208 g/L, intertwin Hb difference was80 g/L in 10/16 cases and80 g/L in 2/16 cases (after intrauterine laser treatment). Intertwin reticulocyte count ratio was1.7 in 5/16 cases and1.7 in 1/16 case (after intrauterine laser treatment). Postnatal treatment: 9/16 cases of donor had anemia, among them, 6/16 cases were given blood transfusions, 6/16 cases of recipient with hyperviscosity underwent partial exchange transfusions. Neurodevelopmental follow-up during neonatal period was normal in 11/16 cases, in our case, neurodevelopmental follow-up at the corrected gestational age 3 months was normal.TAPS is a new atypical form of twin-twin transfusion syndrome (TTTS) that presents as a large intertwin hemoglobin difference with one twin developing anemia and the other developing polycythemia, without oligohydramnios-polyhydramnios sequence that is required for the diagnosis of TTTS. We suggest that routine doppler studies and MCA-PSV measurements should be performed during each follow-up visit in all uncomplicated monochorionic twin pregnancies, in order to find out the cases required intrauterine intervention to decrease neonatal mortality rates and improve the prognosis.

To study the characteristics of amplitude integrated electroencephalography (aEEG) in preterm infants and changes of maturation with gestational age.aEEG monitoring was done within 3 days of age with domestically produced digital aEEG set (CFM3000). Duration of each recording was at least 4 hours. The continuity, sleep-wake cycle, voltage and bandwidth of all aEEG tracing were analyzed.The percent of continuity background increased from 30% of 28 weeks to 85.7% of 36 weeks (χ(2) = 28.2, P = 0.026); the percent of mature sleep-wake cycle increased from 10% of 28 weeks to 100% of 36 weeks (χ(2) = 192.4, P0.01). Low bound voltage increased with gestational age, from (6.8 ± 1.7) µV (28 w) to 9.7 - 10.1 µV (35 - 36 w) (F = 11.4, P0.01). Bandwidth of the narrow band decreases gradually with gestational age, from 1.45 cm (28 w) to (0.86 ± 0.24) cm (36 w) (F = 8.731, P0.01). The correlation coefficient for continuity, sleep-wake cycle, low bound voltage and bandwidth of narrow band, and total scores were 0.32, 0.81, 0.38, 0.55 and 0.78 respectively (P0.05).The older the gestational age of infants at birth, the more mature the aEEG pattern, manifested as increased continuity and sleep-wake cycle, the higher low bound voltage and more narrowed bandwidth with increased gestational age.

Neonatal lupus erythematosus (NLE) is an uncommon autoimmune disease passively transmitted from the mother in which there is transplacental passage of maternal antibodies. It is often misdiagnosed as intrauterine infection or sepsis. The main purpose of this retrospective study was to improve the understanding of pathogenesis and clinical manifestations of NLE.Clinical manifestations, results of the tests for antinuclear antibodies (ANA), anti-Ro/SSA, anti-La/SSB and anti-dsDNA antibodies in both infants with NLE (8 cases) and their mothers and head ultrasound and CT scans of the infants were analyzed. Follow-up was performed until one and ahalf years of age or all the abnormalities had been resolved.Totally 8 cases (3 males and 5 females) matched the criteria for diagnosis of NLE from September 2003 to February 2006, among whom 4 were small for gestational age and one was born prematurely. Mean gestational age was 38.1 +/- 1.9 weeks, mean birth weight 2 605 +/- 420 grams, mean admission age 22.4 +/- 27.7 days (2 hours-72 days) and mean age of onset 9.4 +/- 12.1 days (0 - 28 days). The common clinical manifestations included cutaneous lupus lesions (8 infants), neural system abnormalities (2 infants) and congenital heart block (2 infants). The skin of the infants exhibited annular, erythematous or desquamative lesions. They all disappeared before 6 months of age. One patient presented with grade III atrioventricular block and was delivered by cesarean section because of "fetal distress". He did not recover at one and a half years follow-up. One infant was hypotonic with delayed neuro-motor development initially and during follow-up with both abnormal neonatal behavioral neurological assessment (NBNA) and image findings. CT showed generalized low density involving periventricular area and deep white matter at one week of age. At the age of one and a half years, he presented with normal mental development index determined by CDCC infant intelligence mensuration. Other abnormal clinical findings included hepatosplenomegaly, anemia, thrombocytopenia, cholestasis and elevated liver enzymes, which were all resolved before 6 months of age. Only 3 mothers of the NLE infants were diagnosed as lupus erythematosus before parturition and only one received partial therapy. At least anti-Ro/SSA antibody or anti-La/SSB antibody or ANA was found in the affected patients. Seven cases had circulating anti-Ro and/or anti-La antibodies in the mothers and in the newborns, while ANA was positive in 7 newborns and in all mothers. All the clinical symptoms except congenital heart block disappeared before 18 months of age. No special intervention was applied.Serum auto-antibodies should be investigated to rule out NLE when there is congenital heart block or rashes or thrombocytopenia presented in a neonate, despite there is no maternal history. Central nervous system abnormalities in NLE are likely to be transient and whether it will cause long term sequelae is uncertain.

We report a case of cardiac tamponade due to air leak and fatal pneumopericardium that occurred after commercial flight transportation of a premature infant with chronic lung disease without respiratory distress. We review and discuss aspects of flight pathophysiology, and conclude that careful preparation before, and close monitoring during, commercial flight transportation is necessary for premature infants.

To explore the inducing effect of human mutant p27 gene on the apoptosis of the human gastric cancer cell line MKN-45 and its associated mechanisms.The recombinant adenovirus Ad-p27mt was constructed to infect the human gastric cancer cell line MKN-45. Using flow cytometry, TUNEL assay and DNA fragment analysis, we measured the apoptotic effect of Ad-p27mt on the human gastric cancer cells.Ad-p27mt was successfully constructed and the infection efficiency reached 100%. After 18 h of infection, we observed an apoptotic hypodiploid peak on the flow cytometer before G1-S and apoptotic characteristic bands in the DNA electrophoresis. The apoptotic rate detected by TUNEL method was significantly higher in the Ad-p27mt group (89.4+/-3.12%) compared to the control group (3.12+/-0.13%, P0.01).Human mutant p27 can induce apoptosis of the human gastric cancer cells in vitro.