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Vol 15, No 5
Vol 15, No 5 October 2019 ISSN 1708-8569
Review articles
Original articles
Brief reports
Letter to the editor
Review articles:
A negative regulator of synaptic development: MDGA and its links to neurodevelopmental disorders
  Rui Wang, Jia-Xian Dong, Lu Wang, Xin-Yan Dong, Eitan Anenberg, Pei-Fang Jiang, Ling-Hui Zeng, Yi-Cheng Xie
Background: Formation of protein complexes across synapses is a critical process in neurodevelopment, having direct implications on brain function and animal behavior. Here, we present the understanding, importance, and potential impact of a newly found regulator of such a key interaction.
Data sources: A systematic search of the literature was conducted on PubMed (Medline), Embase, and Central-Cochrane Database.
Results: Membrane-associated mucin domain-containing glycosylphosphatidylinositol anchor proteins (MDGAs) were recently discovered to regulate synaptic development and transmission via suppression of neurexins每neuroligins transsynaptic complex formation. MDGAs also regulate axonal migration and outgrowth. In the context of their physiological role, we begin to consider the potential links to the etiology of certain neurodevelopmental disorders. We present the gene expression and protein structure of MDGAs and discuss recent progress in our understanding of the neurobiological role of MDGAs to explore its potential as a therapeutic target.
Conclusions: MDGAs play a key role in neuron migration, axon guidance and synapse development, as well as in regulating brain excitation and inhibition balance.
  [Abstract] [Full Text] [PDF]  
Distal renal tubular acidosis: genetic causes and management
  S赤lvia Bouissou Morais Soares, Luiz Alberto Wanderley de Menezes Silva, Fl芍via Cristina de Carvalho Mrad, Ana Cristina Simões e Silva
Background: Distal renal tubular acidosis (dRTA) is a kidney tubulopathy that causes a state of normal anion gap metabolic acidosis due to impairment of urine acidification. This review aims to summarize the etiology, pathophysiology, clinical findings, diagnosis and therapeutic approach of dRTA, with emphasis on genetic causes of dRTA.
Data sources: Literature reviews and original research articles from databases, including PubMed and Google Scholar. Manual searching was performed to identify additional studies about dRTA.
Results: dRTA is characterized as the dysfunction of the distal urinary acidification, leading to metabolic acidosis. In pediatric patients, the most frequent etiology of dRTA is the genetic alteration of genes responsible for the codification of distal tubule channels, whereas, in adult patients, dRTA is more commonly secondary to autoimmune diseases, use of medications and uropathies. Patients with dRTA exhibit failure to thrive and important laboratory alterations, which are used to define the diagnosis. The oral alkali and potassium supplementation can correct the biochemical defects, improve clinical manifestations and avoid nephrolithiasis and nephrocalcinosis.
Conclusions: dRTA is a multifactorial disease leading to several clinical manifestations. Clinical and laboratory alterations can be corrected by alkali replacement therapy.
  [Abstract] [Full Text] [PDF]  
Sedation and analgesia in children with cerebral palsy: a narrative review
  Ingrid Rabach, Francesca Peri, Marta Minute, Emanuela Aru, Marianna Lucaf辰, Alberto Di Mascio, Giorgio Cozzi, Egidio Barbi
Background: Patients with cognitive impairment due to cerebral palsy experience pain more often than healthy peers and frequently require diagnostic and therapeutic painful procedures. Analgesia and procedural sedation outside the operating room are often required, but they may not adequately be provided because of the inability to accurately recognize and classify the state of pain and for the perceived higher risk of complications.
Data sources: We reviewed the available literature to highlight the specific risk factors and area of criticism, that should be further improved. We searched the Cochrane Library, Medline, Pubmed from 1987 to September 2018 using key words such as ※cerebral palsy and children and pain§ or ※sedation and cerebral palsy and children§.
Results: While different pain scales are useful in recognizing pain expressions, anxiety scales are not available. Moreover, studies on non-pharmacological techniques do not always have comparable results. Several risk factors, from anatomic abnormalities to liver and kidney functioning, should be kept in mind before proceeding with sedation.
Conclusions: Large trials are needed to assess the impact of non-pharmacological techniques and to evaluate which pain control strategy (pharmacological and non-pharmacological) should be used in different settings.
  [Abstract] [Full Text] [PDF]  
Fluoroquinolones-resistant Shigella species in Iranian children: a meta-analysis
  Farzad Khademi, Amirhossein Sahebkar
Background: Shigella is one of the most common causes of childhood dysentery along with high rate of morbidity and mortality in both developing and developed countries. According to the World Health Organization (WHO) reports, the prevalence of fluoroquinolones-resistant Shigella species is increasing worldwide which can cause treatment failure of Shigella infections. Since there has not been any comprehensive information on drug-resistant Shigella species in Iran, we conducted the following meta-analysis to raise awareness.
Methods: We conducted a literature search on antibiotic resistance of Shigella species to collect published studies in Iran using national and international databases. Literature search was performed by up to Jan 30, 2019 and eligible studies were included in the meta-analysis by predefined criteria.
Results: Antimicrobial susceptibility testing using disk diffusion technique was the only used method in all included studies. Antibiotic resistance characteristics of Shigella species against WHO recommended therapeutic regimens were as follows: S. dysenteriae 7%, S. flexneri 3.8%, S. boydii 6.9% and S. sonnei 2.6% to ciprofloxacin, S. dysenteriae 27.9%, S. flexneri 19.3%, S. boydii 15.7% and S. sonnei 9.5% to ceftriaxone and also S. dysenteriae 91.7%, S. flexneri 20.7%, S. boydii 46.7% and S. sonnei 32.3% to azithromycin. Resistance to pivmecillinam has not been investigated in Iran.
Conclusions: Our findings revealed that ciprofloxacin can still be used as the first-line antibiotic for Shigella infections in Iranian children. However, it seems that second-line antibiotics i.e., ceftriaxone and azithromycin are not good choices for treatment and thus not recommended.
  [Abstract] [Full Text] [PDF]  
Original articles:
Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models
  Zhen Shi, Hui-Fang Yan, Bin-Bin Cao, Mang-Mang Guo, Han Xie, Kai Gao, Jiang-Xi Xiao, Yan-Ling Yang, Hui Xiong, Qiang Gu, Ming Li, Ye Wu, Yu-Wu Jiang, Jing-Min Wang
Background: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare neurological degenerative disorder caused by the mutations of MLC1 or GLIALCAM with autosomal recessive or autosomal dominant inheritance and a different prognosis, characterized by macrocephaly, delayed motor and cognitive development, and bilateral abnormal signals in cerebral white matter (WM) with or without cysts on magnetic resonance imaging (MRI). This study aimed to reveal the clinical and genetic features of MLC patients with GLIALCAM mutations and to explore the brain pathological characteristics and prognosis of mouse models with different modes of inheritance.
Methods: Clinical information and peripheral venous blood were collected from six families. Genetic analysis was performed by Sanger sequencing of GLIALCAM. GlialcamArg92Trp/+ and GlialcamLys68Met/Thr132Asn mouse models were generated based on mutations from patients (c.274C>T(p.Arg92Trp) (c.203A>T(p.Lys68Met), and c.395C>A (p.Thr132Asn))). Brain pathologies of the mouse models at different time points were analyzed.
Results: Six patients were clinically diagnosed with MLC. Of the six patients, five (Pt1每Pt5) presented with a heterozygous mutation in GLIALCAM (c.274C>T(p.Arg92Trp) or c.275G>C(p.Arg92Pro)) and were diagnosed with MLC2B; the remaining patient (Pt6) with two compound heterozygous mutations in GLIALCAM (c.203A>T (p.Lys68Met) and c.395C>A (p.Thr132Asn)) was diagnosed with MLC2A. The mutation c.275C>G (p.Arg92Pro) has not been reported before. Clinical manifestations of the patient with MLC2A (Pt6) progressed with regression, whereas the course of the fi ve MLC2B patients remained stable or improved. The GlialcamArg92Trp/+ and GlialcamLys68Met/Thr132Asn mouse models showed vacuolization in the anterior commissural WM at 1 month of age and vacuolization in the cerebellar WM at 3 and 6 months, respectively. At 9 months, the vacuolization of the GlialcamLys68Met/Thr132Asn mouse model was heavier than that of the GlialcamArg92Trp/+ mouse model. Decreased expression of Glialcam in GlialcamArg92Trp/+ and GlialcamLys68Met/Thr132Asn mice may contribute to the vacuolization.
Conclusions: Clinical and genetic characterization of patients with MLC and GLIALCAM mutations revealed a novel mutation, expanding the spectrum of GLIALCAM mutations. The first Glialcam mouse model with autosomal recessive inheritance and a new Glialcam mouse model with autosomal dominant inheritance were generated. The two mouse models with different modes of inheritance showed different degrees of brain pathological features, which were consistent with the patients* phenotype and further confirmed the pathogenicity of the corresponding mutations.
  [Abstract] [Full Text] [PDF]  
Cardiovascular dysfunction and vitamin D status in childhood acute lymphoblastic leukemia survivors
  Paola Muggeo, Vito Michele Rosario Muggeo, Paola Giordano, Maurizio Delvecchio, Maria Altomare, Chiara Novielli, Marco Matteo Ciccone, Gabriele D*Amato, Maria Felicia Faienza, Nicola Santoro
Background: Vitamin D (25-OHD) has a role in bone health after treatment for cancer. 25-OHD deficiency has been associated with risk factors for cardiovascular disease, but no data focusing on this topic in childhood cancer survivors have been published. We investigated the 25-OHD status in children treated for acute lymphoblastic leukemia (ALL), and evaluated its influence on vascular function.
Methods: 25-OHD levels were evaluated in 52 ALL survivors and 40 matched healthy controls. Patients were grouped according to 25-OHD level (< 20 ng/m or ≡ 20 ng/mL). Auxological parameters, biochemical and hemostatic markers of endothelial function (AD, HMW-AD, ET-1, vWFAg, TAT, D-dimers, Fbg, and hs-CRP), ultrasound markers of vascular endothelial function (flow-mediated dilatation, FMD, common carotid intima-media thickness, C-IMT, and antero-posterior diameter of infra-renal abdominal aorta, APAO) were evaluated in the patients.
Results: Cases showed higher prevalence of 25-OHD deficiency than controls (P = 0.002). In univariate analysis via mean comparisons, 25-OHD deficient (< 20 ng/mL) patients showed higher C-IMT values compared to the 25-OHD non-deficient (≡ 20 ng/mL) group (P = 0.023). Significant differences were also found for ET-1 (P = 0.035) and AD-HMW (P = 0.015). In the multiple regression models controlling for some confounders, 25-OHD still was associated with C-IMT (P = 0.0163), ET-1 (P = 0.0077), and AD-HMW (P = 0.0008).
Conclusions: Childhood ALL survivors show higher prevalence of 25-OHD deficiency as compared to controls. The 25-OHD levels appear to be linked to indicators of endothelial and vascular dysfunction. Careful monitoring of 25-OHD balance may help to prevent cardiovascular diseases in childhood ALL survivors, characterized by high cardiovascular risk.
  [Abstract] [Full Text] [PDF]  
Impact of dyslipidemia on estimated glomerular filtration rate in apparently healthy children and adolescents: the CASPIAN-V study
  Mohammad Moafi, Farahnak Assadi, Ramin Heshmat, Mehri Khoshhali, Mostafa Qorbani, Mohammad E. Motlagh, Razieh Dashti, Majzoubeh Taheri, Roya Kelishadi
Background: Chronic kidney disease (CKD) is a leading risk factor for development of cardiovascular disease (CVD). Dyslipidemia is also known as risk factor for CVD development. However, the association of dyslipidemia with glomerular injury among healthy children and adolescents remains controversial. We aimed to investigate the relationship between estimated glomerular filtration rate (eGFR) and lipid profile risk factors among healthy children and adolescents.
Methods: In this nationwide survey, 3808 participants (1992 males, 1816 females), aged 7每18 years, were selected by cluster random sampling method from 30 provinces in Iran. Body mass index (BMI) and systolic and diastolic blood pressures were measured. Blood samples were obtained for serum creatinine, fasting blood glucose, total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and triglyceride (TG) determinations. GFR was estimated using Schwartz equation.
Results: Girls had higher eGFR than boys (P = 0.04). In a multiple regression analysis, eGFR demonstrated a positive correlation with systolic blood pressure, BMI, fasting glucose, TC, HDL-C, and TG. By the analysis of covariance, TC, HDLC, and TG showed a negative correlation with eGFR after adjustments for BMI, systolic and diastolic blood pressures, and fasting glucose (OR = 0.56, 95% CI = 0.29每0.89).
Conclusion: The study showed that dyslipidemia is associated with reduced eGFR among the healthy children and adolescents.
  [Abstract] [Full Text] [PDF]  
Management of Wilms tumor with intravenous thrombus in children: a single center experience
  Shuai Xu, Ning Sun, Wei-Ping Zhang, Hong-Cheng Song, Cheng-Ru Huang
Background: Wilms tumor tends to grow into vena cava, even invade atrium, which increased operating difficulty and frequency of surgical complications.
Methods: Forty-two patients of Wilms tumor with intravenous thrombus were retrospective studied. The diagnosis and therapy were discussed according to the medical records and interrelated literatures.
Results: Forty-two children with thrombus were diagnosed by computed tomography and 41 cases by ultrasound simultaneously. 36 children had received preoperative chemotherapy. Surgical resection was performed in all patients. Cardiopulmonary bypass was used for the removal of the intra-atrial thrombus in 5 patients. There were no surgical complications occurred. The patients received chemotherapy and radiotherapy according to clinical staging by National Wilms* Tumor Study (NWTS)-4 or NWTS-5. 34 patients were successfully followed up, 32 patients survive at present, including one who has been followed up more than 20 years since operation.
Conclusion: Standardized sequential treatment, including preoperative chemotherapy and radiotherapy, nephrectomy combining resection of thrombus, postoperative adjuvant therapy, is the mainstay of treatment of Wilms tumor with intravenous thrombus.
  [Abstract] [Full Text] [PDF]  
Family socioeconomic position and abnormal birth weight: evidence from a Chinese birth cohort
  Si Tu, Ao-Lin Wang, Mei-Zhen Tan, Jin-Hua Lu, Jian-Rong He, Song-Ying Shen, Dong-Mei Wei, Min-Shan Lu, Shiu Lun Au Yeung, Hui-Min Xia, Xiu Qiu
Background: Birth weight is a strong determinant of infant short- and long-term health outcomes. Family socioeconomic position (SEP) is usually positively associated with birth weight. Whether this association extends to abnormal birth weight or there exists potential mediator is unclear.
Methods: We analyzed data from 14,984 mother-infant dyads from the Born in Guangzhou Cohort Study. We used multivariable logistic regression to assess the associations of a composite family SEP score quartile with macrosomia and low birth weight (LBW), and examined the potential mediation effect of maternal pre-pregnancy body mass index (BMI) using causal mediation analysis.
Results: The prevalence of macrosomia and LBW was 2.62% (n = 392) and 4.26% (n = 638). Higher family SEP was associated with a higher risk of macrosomia (OR 1.30, 95% CI 0.93每1.82; OR 1.53, 95% CI 1.11每2.11; and OR 1.59, 95% CI 1.15每2.20 for the 2nd, 3rd, and 4th SEP quartile respectively) and a lower risk of LBW (OR 0.69, 95% CI 0.55每0.86; OR 0.76, 95% CI 0.61每0.94; and OR 0.61, 95% CI 0.48每0.77 for the 2nd, 3rd, and 4th SEP quartile respectively), compared to the 1st SEP quartile. We found that pre-pregnancy BMI did not mediate the associations of SEP with macrosomia and LBW.
Conclusions: Socioeconomic disparities in fetal macrosomia and LBW exist in Southern China. Whether the results can be applied to other populations should be further investigated.
  [Abstract] [Full Text] [PDF]  
Impact of HIV on the health-related quality of life in youth with perinatally acquired HIV
  Isabel Cu谷llar-Flores, Tal赤a Sa赤nz, Carlos Velo, Mar赤a Isabel Gonz芍lez-Tom谷, Cristina Garc赤a-Navarro, Carolina Fern芍ndez-Mcphee, Sara Guill谷n, Jos谷 Tom芍s Ramos, Pilar Miralles, Rafael Rubio, Jos谷 Ignacio Bernardino, Luis Prieto, Pablo Rojo, Santiago Jim谷nez de Ory, Maria Luisa Navarro, on behalf of CoRiSpe (FARO and NeuroCoRISpeS projects, RITIP-Traslational Research Network in Pediatric Infectious Diseases)
Background: Studies investigating health-related quality of life (HRQoL) in youth with perinatally acquired HIV (PHIV+) are scarce. This study aimed to compare HRQoL of PHIV+ to sociodemographic-matched youth not living with HIV (HIV−), Spanish general youth population, and to explore associations between sociodemographic variables, drug consumption, and HRQoL.
Methods: PHIV+ youth were randomly selected from CoRISpe database (Cohort of the Spanish Pediatric HIV Network). HRQoL was evaluated by SF-12v2.
Results: Thirty-nine PHIV+ youth (mean age: 23.36 years, SD = 3.83) and thirty-nine HIV− youth (mean age: 22.97 years, SD = 3.80) participated in this study. PHIV+ obtained lower scores in SF-12 physical health subscale (PCS) than HIV (P = 0.001) and Spanish general youth population (P = 0.006). PHIV+ had lower scores on the mental health subscale (MCS) than the Spanish general youth population (P < 0.001). PHIV+ who were at school obtained better scores than those were not at school. PHIV+ youth who had used cocaine and cannabis had lower scores in MCS (P = 0.002).
Conclusion: There is a need for HRQoL management in the associated medical follow-up.
  [Abstract] [Full Text] [PDF]  
Establishment of an efficient reverse genetic system of Mumps virus S79 from cloned DNA
  Duo Zhou, Meng-Ying Zhu, Yi-Long Wang, Xiao-Qiang Hao, Dong-Ming Zhou, Rong-Xian Liu, Chu-Di Zhang, Chu-Fan Qu, Zheng-Yan Zhao
Background: Mumps is a common type of respiratory infectious disease caused by mumps virus (MuV), and can be effectively prevented by vaccination. In this study, a reverse genetic system of MuV that can facilitate the rational design of safer, more efficient mumps vaccine candidates is established.
Methods: MuV-S79 cDNA clone was assembled into a full-length plasmid by means of the GeneArt™ High-Order Genetic Assembly System, and was rescued via reverse genetic technology. RT-PCR, sequencing, and immunofluorescence assays were used for rMuV-S79 authentication. Viral replication kinetics and in vivo experimental models were used to evaluate the replication, safety, and immunogenicity of rMuV-S79.
Results: A full-length cDNA clone of MuV-S79 in the assembly process was generated by a novel plasmid assemble strategy, and a robust reverse genetic system of MuV-S79 was successfully established. The established rMuV-S79 strain could reach a high virus titer in vitro. The average viral titer of rMuV-S79 in the lung tissues was 2.68 ㊣ 0.14 log 10 PFU/g lung tissue, and rMuV-S79 group did not induce inflammation in the lung tissues in cotton rats. Neutralizing antibody titers induced by rMuV-S79 were high, long-lasting and could provide complete protection against MuV wild strain challenge.
Conclusions: We have established a robust reverse genetic system of MuV-S79 which can facilitate the optimization of mumps vaccines. rMuV-S79 rescued could reach a high virus titer and the safety was proven in vivo. It could also provide complete protection against MuV wild strain challenge.
  [Abstract] [Full Text] [PDF]  
Brief reports:
Quality of life in caregivers of young children with Prader每Willi syndrome
  Shu-Jiong Mao, Jian Shen, Fang Xu, Chao-Chun Zou
Background: This study aimed to measure quality of life (QOL) in primary caregivers of young children with Prader每Willi syndrome (PWS).
Methods: The caregivers of 32 children aged from 6.1 to 71.2 months completed the Chinese version of the World Health Organization Quality of Life-BREF (WHOQOL-BREF). We also evaluated the social adaption capacity of these children with Infants-Junior Middle School Students* Social-Life Abilities Scale. Correlation test was used to explore the related factors to caregivers* QOL.
Results: Caregivers of young children with PWS had significantly lower QOL. The correlation analyses revealed that caregivers* QOL was lower in children with young age, combined diseases or symptoms or poor social adaption, or caregivers having concerns about the child.
Conclusions: Rearing a child with PWS may lead to decreased QOL. Psychological status of caregivers should be highlighted and social support should be given to families with PWS children.
  [Abstract] [Full Text] [PDF]  
Attenuated MuV-S79 as vector stably expressing foreign gene
  Duo Zhou, Meng-Ying Zhu, Yi-Long Wang, Xiao-Qiang Hao, Dong-Ming Zhou, Rong-Xian Liu, Chu-Di Zhang, Chu-Fan Qu, Zheng-Yan Zhao
Background: To describe mumps virus (MuV) used as a vector to express enhanced green fluorescent protein (EGFP) or red fluorescent protein (RFP) genes.
Methods: Molecular cloning technique was applied to establish the cDNA clones of recombinant mumps viruses (rMuVs). rMuVs were recovered based on our reverse genetic system of MuV-S79. The properties of rMuVs were determined by growth curve, plaque assay, fluorescent microscopy and determination of fluorescent intensity.
Results: Three recombinant viruses replicated well in Vero cells and similarly as parental rMuV-S79, expressed heterologous genes in high levels, and were genetically stable in at least 15 passages.
Conclusion: rMuV-S79 is a promising platform to accommodate foreign genes like marker genes, other antigens and immunomodulators for addressing various diseases.
  [Abstract] [Full Text] [PDF]  
Letter to the editor:
Complementary and alternative medicine in ADHD treatment: more soundly designed clinical trials needed
  Rong-Wang Yang, Rong Li
  [Abstract] [Full Text] [PDF]  
World Journal of Pediatric Surgery
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