Background Epilepsy is a complex disorder caused by various factors, including genetic aberrance. Recent studies have identified an essential role of the sodium channel Nav1.6, encoded by the gene SCN8A, in epileptic encephalopathy. Case presentation Using parent-offspring trio targeted-exome sequencing, we identified a de novo heterozygous missense mutation c.3953A > G (p.N1318S) in SCN8A in a 3-year-and-9-month Chinese female patient with early infantile epileptic encephalopathy and a normal magnetic resonance imaging of the brain. Conclusions This de novo mutation was only detected in the patient but not in her parents. Bioinformatic analysis indicates the pathogenicity of this mutation. Administration of the sodium channel blocker well controlled seizures in the patient. Therefore, we recommend trio targeted-exome sequencing as a routine method for pathogenic variant screening in patients with intractable epilepsy and a normal MRI.
Background To explore the changes of inflammatory and oxidative stress responses in Henoch-Schonlein purpura (HSP) children, and further analyzed the therapeutic effects and mechanisms of hemoperfusion (HP) on HSP with severe gastrointestinal (GI) involvement. Methods There were 200 children with HSP were divided into three groups according to their clinical manifestations: 60 in HSP without GI and renal involvement group, 60 in HSP with GI involvement group, and 80 in HSPN group. The HSP with GI involvement group was subdivided into conventional treatment (n = 30) and HP (n = 30) groups. Thirty children who visited the department of children healthcare for healthy physical examinations from January to December 2017 were set as healthy control group. The IL-6 and TNF-alpha levels were detected by chemoluminescence method. The MDA, SOD and T-AOC levels were determined by thiobarbituric acid colorimetric method, hydroxylamine method and chemical colorimetry. Results Compared with healthy group, IL-6, TNF-alpha and MDA levels in HSP were increased in each group, while SOD and T-AOC were decreased (P = 0.000). IL-6, TNF-alpha and MDA levels in the HSPN group were the highest, SOD and T-AOC levels were the lowest (P = 0.000). Compared with those before treatment, IL-6, TNF-alpha and MDA levels in the conventional and HP groups were decreased and SOD and T-AOC levels were increased (P = 0.000). The changes in HP group were more significant than those in conventional group (P < 0.047). Compared with conventional group, glucocorticoid dosage and the occurrence rate of hematuria and/or proteinuria within 3 months were lower in HP group. (P = 0.000, 0.004). Conclusions Inflammatory and oxidative stress may be involved in the acute phase of HSP children. The intensity of inflammatory and oxidative stress responses were related to the degree of renal involvement. HP can reduce glucocorticoid dosage and the rate of renal involvement in children with severe HSP with GI involvement. The mechanism may be related to the fact that HP can effectively remove IL-6, TNF-alpha, MDA in HSP children.
Background Primary immunodeficiency disease (PID) is a disorder caused by an inherited flaw in the immune system that increases the susceptibility to infections. Methods In this study, 112 children with PID were diagnosed and classified based on the 2017 criteria presented by the International Union of Immunological Societies (IUIC) in a single tertiary care center from January 2013 to November 2018. We retrospectively studied the clinical features of those PID children and followed-up them as well. Results It was revealed that male/female ratio was 6:1. The most frequent diagnosed PID was severe combined immunodeficiency (SCID) (28.6%) and hyper-IgM (HIGM) syndrome (24.1%), followed by predominantly antibody deficiencies (17.8%). Combined immunodeficiencies with associated or syndromic features (12.5%) and congenital defects of phagocyte number, function, or both (10.7%) were less common in our center compared with SCID and HIGM syndrome. Besides, we found that 20 children (17.8%) had a positive family history of PID, and almost all cases (97.3%) had a history of recurrent infection. Recurrent respiratory tract infection was among the most common symptoms, followed by the bacterial infection of the skin and mucous membranes and diarrhea. Additionally, adverse event following immunization (AEFI) was found in 20.5% of the patients, and immune disorder was commonly observed in PID patients. In the present study, 47 patients underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), and 2-year overall survival (OS) rate for these patients was 78.7% (37/47). It is noteworthy that OS widely differed among PID patients with different phenotypes who underwent allo-HSCT. The 2-year OS rate for SCID, HIGM syndrome, and the remaining of PID patients who underwent allo-HSCT was 14.3, 83.3, and 100%, respectively. Conclusions PID typically emerges at early age. Recurrent infection and serious infection were the most common clinical manifestations. Allo-HSCT is a relatively effective therapeutic strategy for PID patients.
Background An increasing number of extremely preterm (EP) infants have survived worldwide. However, few data have been reported from China. This study was designed to investigate the short-term outcomes of EP infants at discharge in Guangdong province. Methods A total of 2051 EP infants discharged from 26 neonatal intensive care units during 2008-2017 were enrolled. The data from 2008 to 2012 were collected retrospectively, and from 2013 to 2017 were collected prospectively. Their hospitalization records were reviewed. Results During 2008-2017, the mean gestational age (GA) was 26.68 +/- 1.00 weeks and the mean birth weight (BW) was 935 +/- 179 g. The overall survival rate at discharge was 52.5%. There were 321 infants (15.7%) died despite active treatment, and 654 infants (31.9%) died after medical care withdrawal. The survival rates increased with advancing GA and BW (p < 0.001). The annual survival rate improved from 36.2% in 2008 to 59.3% in 2017 (p < 0.001). EP infants discharged from hospitals in Guangzhou and Shenzhen cities had a higher survival rate than in others (p < 0.001). The survival rate of EP infants discharged from general hospitals was lower than in specialist hospitals (p < 0.001). The major complications were neonatal respiratory distress syndrome, 88.0% (1804 of 2051), bronchopulmonary dysplasia, 32.3% (374 of 1158), retinopathy of prematurity (any grade), 45.1% (504 of 1117), necrotizing enterocolitis (any stage), 10.1% (160 of 1588), intraventricular hemorrhages (any grade), 37.4% (535 of 1431), and blood culture-positive nosocomial sepsis, 15.7% (250 of 1588). The multivariate logistic regression analysis indicated that improved survival of EP infants was associated with discharged from specialist hospitals, hospitals located in high-level economic development region, increasing gestational age, increasing birth weight, antenatal steroids use and a history of premature rupture of membranes. However, twins or multiple births, Apgar <= 7 at 5 min, cervical incompetence, and decision to withdraw care were associated with decreased survival. Conclusions Our study revealed the short-term outcomes of EP infants at discharge in China. The overall survival rate was lower than the developed countries, and medical care withdrawal was a serious problem. Nonetheless, improvements in care and outcomes have been made annually.
Background The use of oral (PO) antibiotics following a course of certain intravenous (IV) antibiotics is proposed in order to avoid the complications of IV medications and to decrease the cost. However, the efficacy and safety of sequential IV/PO antibiotics is unclear and requires further study. Methods The databases, including PubMed, EMBASE and Cochrane Library, were searched. Studies comparing outcomes in patients with perforated appendicitis receiving sequential IV/PO and PO antibiotics therapy were screened. The Newcastle-Ottawa Scale (NOS) and the Jadad score were used to evaluate the quality of the cohort and the randomized controlled portions of the trial, respectively. Statistical heterogeneity was assessed using the I-2 value. A fixed or random-effect model was applied according to the I-2 value. Results Five controlled studies including a total of 580 patients were evaluated. The pooled estimates revealed that sequential IV/PO antibiotic therapy did not increase the risk of complications, with a risk ratio (RR) of 0.97 (95% CI 0.51-1.83, P = 0.93) for postoperative abscess, 1.04 (95% CI 0.25-4.36, P = 0.96) for wound infection and 0.62 (95% CI 0.33-1.16, P = 0.13) for readmission. Conclusions Our study demonstrates that sequential IV/PO antibiotic therapy is noninferior to IV antibiotic therapy regarding postoperative abscess, wound infection and readmission.
Background Kawasaki disease (KD) is a common vasculitis of childhood in East Asia. The complications of KD ascribed to long-term cardiovascular sequelae are considerably diverse. Although studies have investigated neurodevelopmental problems following KD in the past few decades, they have reported inconsistent conclusions. This study investigated potential epilepsy and associated neurodevelopmental disorders (NDDs) following KD in Taiwanese children. Methods We retrospectively analyzed the data of children aged < 18 years with clinically diagnosed KD from January 1, 2005, to December 31, 2015. These patients were followed up to estimate the prevalence of epilepsy and associated NDDs in comparison with the prevalence in general pediatric population in Taiwan and worldwide. Results A total of 612 patients with an average age of 1.6 years were included. The prevalence of associated NDDs was 16.8% (n = 103/612) in the study group, which consisted of epilepsy, intellectual disability (ID), autism spectrum disorders, Tourette syndrome (TS), attention deficit hyperactivity disorder, (ADHD), and others. Moreover, children with KD had a higher prevalence of epilepsy and TS in both Taiwan and worldwide (epilepsy: 2.61% in the KD group vs 0.33% in Taiwan and 0.05-0.8% in worldwide, p < 0.05; TS: 2.77% in the KD group vs 0.56% in Taiwan and 0.3-1% in worldwide, p < 0.05). The prevalence of ID, ADHD, and developmental language disorders was not significantly different between our study patients and those in Taiwan or worldwide. Conclusions Results revealed a higher prevalence rate of NDDs, especially epilepsy and TS, in Taiwanese children with KD than in the general pediatric population in Taiwan. However, these NDDs could be heterogeneous. Children diagnosed with KD were followed up because they had a higher risk of heterogeneous NDDs.
Background Previous studies showed that parents of very preterm infants expressed feelings of incompetence and experienced high levels of stress upon the discharge of their infants. We conducted a systematic review of seven studies and observed potential benefits for parental outcomes when using discharge interventions that adopted guided participation (GP). More evidence is needed on the effective doses of discharge interventions underpinned by the principles of GP. Aim To investigate the feasibility and preliminarily estimate the effects on parental competence and stress outcomes of a newly developed, nurse-led, GP discharge program for mothers of very preterm infants. Methods A two-arm randomized controlled trial was conducted in a neonatal intensive care unit (NICU). Mothers of infants with gestational ages of <= 32 weeks who had no congenital malformations and did not need to undergo major surgeries were recruited. All mothers were the primary caregivers to their infants. The intervention group received a nurse-led GP discharge intervention (three structured 30- to 60-min GP sessions and one follow-up phone call). The control group received usual care. The parental outcomes were measured using the Parenting Sense of Competence Scale (C-PSOC) and Perceived Stress Scale (C-PSS) at baseline (T0), on the day of discharge (T1), after the follow-up phone call (within 72 h after discharge) (T2), and 1 month after discharge (T3). The outcomes were analyzed using generalized estimating equations based on intention-to-treat principles. Results Thirty infant-mother dyads were recruited. Greater improvements in the C-PSOC score were observed in the intervention group than in the control group at T1 and T2, although these differences were statistically insignificant. The intervention group exhibited greater improvements than the control group in the C-PSS scores at T1, T2, and T3, although these differences were also not statistically significant. Conclusions The findings suggest that a GP discharge intervention could improve parenting competence and stress among mothers with very preterm infants. The absence of adverse events suggests that the GP discharge intervention could be feasibly implemented in NICU settings. This feasibility study was not powered to determine the effectiveness of the intervention but is anticipated to lay the foundation for a future full-scale study.
Background The aim of this study was to follow the growth and hematological indicators of preterm infants during their first year. Methods Neonates below 37 gestational weeks had routine follow-ups up through 1 year from January 2012 to December 2015 at West China 2nd University Hospital, Sichuan University. Weight, length and head circumference (HC) were measured monthly during the first 6 months, followed by monitoring every second month until 12 months. The catch-up growth defined as a gain of Z-score > 0.67 according to previous study. All preterm infants were prescribed iron prophylaxis based on national guideline. The hemoglobin concentration was examined at 6 and 12 months. Results Altogether, 132 very-low-birth-weight (VLBW), 504 low-birth-weight (LBW) and 198 normal-birth-weight (NBW) infants were followed. The rates of catch-up growth for weight, length and HC 12 months of corrected age (CA) were 22.6, 29.1 and 14.6%, respectively. SGA and VLBW infants showed higher catch-up growth rates. The overall prevalence of anemia was 6.8% at 6 months and 7.8% at 12 months. The Z-scores for weight-for-length, length and HC were lower in the VLBW and SGA preterm infant groups than in the other preterm groups throughout the first year of life. The incidences of stunting, microcephaly and wasting changed from 5, 1.3 and 3.7% to 2, 1.1, 0.9 and 2.4%, respectively, during the first year. However, the incidences of wasting and stunting were higher for the VLBW infants than for the LBW and NBW infants at 12 months (9.3% vs. 1.4%, p < 0.01; 9.3% vs. 1%, p < 0.01,respectively; 4.7% vs. 0.8%, p < 0.01, 4.7% vs. 0%, p < 0.01,respectively). Similar results were observed between SGA and AGA infants (8.7% vs. 1.5%, p < 0.01; 5.8% vs. 0.4%, p < 0.01). Logistic regression revealed SGA and VLBW as risk factors for poor growth (WLZ < -2SD) at 12 months (OR = 5.5, 95% CI: 2.1-14.8, p < 0.01: OR = 4.8, 95% CI: 1.8-12.8, p < 0.01, respectively). Conclusion The VLBW and SGA preterm infants showed significant catch-up growth during their first year of life. However, SGA and VLBW were risk factors for poor growth during the preterm infants' first year of life. Prophylactic iron supplementation in preterm infants appears to reduce the prevalence of anemia.
Purpose To review our experience with pediatric congenital buttock sinus tract, and to conclude the clinical characteristics and management of the disease. Methods Twenty-two pediatric patients diagnosed with congenital buttock sinus tract were included. Medical records were reviewed, and the patients were followed up. Continuous variables were presented by median and range. Categorical variables were presented as frequencies and percentages. Results Among the 22 patients, there were 8 boys (36.4%) and 14 girls (63.6%). The median first onset age was 42 months, and the range was 5 months to 12 years old. Admission age was 69.5 months, with a range from 14 months to 12 years old. Overall prior treatment time was 11 months, ranging from 3 months to 11 years. Twenty-one patients had definite congenital dimples since birth, and later manifested with infection through the dimple. All patients came to the doctor with complaint of the infection. The number of invasive procedures ranged from 0 to 5, with an average of 2. Radiology could exactly display the morphology and show the termination as a retrorectal cyst. The surgical procedure was adopted trans-fistula tract, and the pathological results showed a dermoid cyst in 11 patients and an epidermoid cyst in 10 patients. During the follow-up period of 34.5 months (range, 2 months to 8 years), 19 patients were uneventful and 3 patients suffered recurrence. Two of them underwent a second operation and had no recurrence ever since. The third patient did not receive a second operation, and the refractory infection was still present. Conclusions Pediatric congenital buttock sinus tract is rare and has a female predominance in the morbidity. Patients have a distinctive congenital dimple on the buttock with recurrent infection, and there usually exists a congenital sinus tract from the dimple to the retrorectal space. Total excision is the only method for the cure. The nature of the disease is a retrorectal developing dermoid cyst or epidermoid cyst.
Background: Obesity is associated with many chronic diseases including cortisol rhythm disorder and low testosterone. Furthermore, studies on obese children are quite limited and no concordance results have been obtained, especially for boys in puberty. Moreover, the sample sizes of previous studies were small, and were not representative. Methods: We conducted a cross-sectional survey including 1148 boys aged 6-14 years, they were divided into overweight/obesity (OW/OB) group and normal weight (NW) group. Puberty status was assessed according to Tanner scale and testicular volume. Serum levels of pregnenolone, 17-OH progesterone, corticosterone, dehydroepiandrosterone (DHEA), and androstenedione were detected by LC-MS. Serum free testosterone and sex hormone-binding globulin (SHBG) levels were measured by chemiluminescence immunoassay. Results: The 17-OH progesterone, DHEA, androstenedione and free testosterone levels of OW/OB boys at prepubertal stage or at the age 6 = < 10 years group were higher than those of the NW boys (all the P values were < 0.01). Furthermore, androstenedione and free testosterone levels were lower in OW/OB boys at late puberty, and the trend continued at the post pubertal stage for FT (P < 0.01-0.05). DHEA, androstenedione, and FT levels persisted to be higher at the 10 similar to < 12 years in OW/OB boys but not for 17-OH progesterone. FT level was lower in the OW/OB group at the 12 similar to < 15 years group. The SHBG levels in the OW/OB boys were lower than those in the NW ones at the 6 similar to 12 years group, and prepubertal to early pubertal stage. Conclusions: Premature adrenarche is more likely in OW/OB boys. More attention should be given to the lower androgen levels of OW/OB boys at late pubertal and post pubertal stages.
Background: Splenogonadal fusion (SGF) is a rare congenital malformation that occurs during embryonic development. SGF typically presents as a left-sided scrotal swelling, left inguinal hernia, scrotal mass, or cryptorchidism. Therefore, it is easily misdiagnosed, and unnecessary orchiectomy may occur. This study aimed to report a rare case of SGF. Case presentation: A 5-month-old male child presented with a history of obvious left scrotal swelling for 1 month, which progressively worsened 10 h before the hospital visit. The ultrasound examination exhibited a solid mass in the left scrotum, with echo quite similar to that in the testicle and went up into the abdominal cavity through an identical echogenic band structure. After surgical resection, the pathological examination confirmed that the submitted tissue was spleen tissue with extensive bleeding. Conclusion: Ultrasound can provide important information regarding the diagnosis of SGF. The possibility of SGF should be considered for further differential diagnosis in the case of similar patients.
Background To construct birth weight charts for the Chongqing municipality, China and to identify whether differences in birth weight exist across urban/rural populations, thereby warranting separate charts. Methods Secondary analysis of routinely collected data from 338,454 live infants between 2014 and 2017 in Chongqing municipality. Sex-specific birth weight-for-gestational age centiles were constructed by the lambda-mu-sigma method via the GAMLSS R-based package. This method remodels the skewed birth weight distribution to estimate a normal distribution, allowing any birth weight centile to be generated. A separate set of centiles were created, accounting for urban/rural differences in birth weight. Results The centiles performed well across all gestational ages. For example, 2.37% (n = 4176) of males and 2.26% (n = 3656) of females were classified as below the 2nd centile (expected percentage = 2.28%), 49.75% of males (n = 87,756) and 50.73% of females (n = 82,203) were classified as below the 50th centile (expected proportion = 50%) and 97.52% of males (n = 172,021) and 97.48% of females (n = 157,967) were classified as below the 98th centile (expected proportion = 97.72%). The overall estimated centiles of birth weight for rural infants were higher than the centiles for urban infants at the earlier gestational ages (< 37 gestational weeks). However, this trend was reversed in infants born at term. Conclusion We have constructed a readily utilizable set of birth weight references from a large representative sample of births in Chongqing. The method used to construct the references allows for the calculation of the exact centile for any infant delivered between 28 and 42 completed weeks, which was not possible with previous charts.
Background While caudal block has been widely used during pediatric lower limbs and lower abdominal surgeries, few studies to date have evaluated the perioperative effects of caudal block on pediatric patients in laparoscopic upper urinary tract surgery. Methods Ninety-six pediatric patients, aged 6 months to 7 years, ASA grade I-II, scheduled to undergo laparoscopic upper urinary tract surgery, were randomized to a non-block group (no caudal block performed), an ROP1.0 group (patients received 1.0 mL/kg of 0.15% ropivacaine) and an ROP1.3 group (patients received 1.3 mL/kg of 0.15% ropivacaine). The primary outcome variable was perioperative fentanyl use. The secondary outcome variables were pain score, hemodynamic fluctuation, the number of patients needing rescue fentanyl and side effects. Results Caudal block with 1.3 mL/kg of 0.15% ropivacaine significantly decreased perioperative fentanyl usage (ROP 1.3 vs. non-caudal block, P < 0.01; ROP 1.3 vs. ROP 1.0, P < 0.05). Moreover, patients in the ROP1.3 group, compared to those without, displayed more stable hemodynamics, lower pain score in the PACU and 8 h after operation, less demand for rescue fentanyl, shorter time of PACU stay. Conclusions Caudal block with 1.3 mL/kg of 0.15% ropivacaine reduced perioperative fentanyl use during laparoscopic upper urinary tract surgery on pediatric patients and produced good postoperative analgesia when compared with no caudal block and caudal block with 1.0 mL/kg of 0.15% ropivacaine.
Background Trunk control is generally considered to be related to gross motor development. However, this assumption has not been validated with clinical data. This pilot study was the first of its kind to examine the longitudinal development of segmental trunk control and gross motor development from 4 to 12 months of age in typically developing full-term infants. Methods A convenience cohort of 20 healthy full-term infants (mean gestation = 39.0 weeks, SD 1.2; mean birthweight = 2975.0 g, SD 297.0; males = 10) was recruited. All study infants were tested and scored monthly by independent assessors using the Segmental Assessment of Trunk Control and the Alberta Infant Motor Scale from 4 to 12 months of age. Results A developmental trend of segmental trunk control was found in the infants. Static vertical upright trunk control developed prior to active and reactive control. Statistically significant correlations were found between trunk control status and gross motor development mainly in prone and sitting positions from 8 months of age onwards (all p < 0.004, Spearman's r ranged from 0.644 to 0.798). Conclusions This pilot study provides preliminary clinical evidence to support the inter-dependency between vertical upright trunk control and gross motor development in young infants, particularly as upright functional skills are gained. This suggests that a dual focus on training upright trunk control alongside gross motor skills could be of benefit in the treatment of infants with movement disorders.
Background To summarize information about invasive pneumococcal disease (IPD) among children in mainland China. Methods Sixteen eligible studies were included in this systematic review and the random effect model was used to estimate the pool prevalence of IPD. Results The most predominant serotypes circulating in children were 19F (27.7, 95% confidence interval (95% CI): 17.7-37.6%), 19A (21.2%, 16.4-26.1%), 14 (16.5%, 12.8-20.1%), 6B (8.6%, 5.2-10.8%) and 23F (7.3%, 5.2-9.5%). The serotype coverage of the available pneumococcal conjugate vaccines PCV7, PCV10, and PCV13 was 60.8% (52.5-69.4%), 65.1% (57.7-72.4%), and 90.0% (87.1-92.8%), respectively. The pooled antibiotic resistance rates of Streptococcus pneumoniae revealed a resistance to penicillin prevalence rate of 32.0% (12.1-51.9%). Approximately 94.4% (90.7-98.1%) and 92.3% (87.4-97.3%) of isolates were resistant to erythromycin and clindamycin. eBURST analysis revealed great diversity among isolates, with 102 sequence types (STs) for 365 isolates. The major predominant clonal complexes (CCs) were CC271 (43.6%, 159/365), CC876 (13.4%, 49/365), CC81 (5.2%, 19/365), and CC90 (4.1%, 15/365). Long-term and regional surveillance of S. pneumoniae is necessary. Conclusions Based on our pooled results showing that PCV13 coverage of the reported serotypes was 90% and that most serotypes contributed to the distribution of antibiotic-resistant isolates, implementation of PCV13 into the Chinese Expanded Program on Immunizations (EPI) would achieve health benefits in Chinese children.