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06 July 2021, Volume 36 Issue 7 Previous Issue    Next Issue

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Primary immunodeficiency：Starting from digestive system disease HU Jian 2021, 36(7): 481-484.  DOI: 10.19538/j.ek2021070601 Abstract ( )   With more than 400 clinical symptoms and about 350 well-defined mutations in PID，it is no surprise that there is a wide variety of gastrointestinal syndromes（GI）. However，diagnosing the different GI of children with potential PID，we must not only compare the performance of PID or non-PID patients with GI，but also consider the difference among PID spectrum lesions，even in the patients with the same genetic diagnosis. About 5% to 50% of PID patients have gastrointestinal problems，including allergies，infections，autoimmune or auto-inflammatory disorders，chronic or acute diarrhea，structural disease or tumor，malabsorption，abdominal pain，and inflammatory bowel disease，all of which may indicate immune disorders with the inherent characteristics of PID. Failure of GI syndromes to respond to conventional treatment calls for an evaluation of possible immunodeficiency.

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Primary immunodeficiency disease and inflammatory bowel disease in children LIN Yi，ZHANG Qiu-ye 2021, 36(7): 485-490.  DOI: 10.19538/j.ek2021070602 Abstract ( )   The morbility of inflammatory bowel disease（IBD） is low in normal children，but is relatively high in some kinds of primary immunodeficiency diseases（PID）. Some kinds of PID are easy to combine with IBD，for example，diseases of immune dysregulation，congenital defects of phagocytes，autoinflammatory disease，combined immunodeficiencies，and combined immunodeficiency syndrome with typical features. PID combined with IBD has different clinical features，for example，the small onset age，severe clinical manifestations，atypical manifestations in endoscopy，and resistance to traditional treatment. In this article we reviewed the mechanisms as well as the clinical features and treatment of PID combined with IBD.

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Problems of liver and spleen related to inborn error of immunity YANG Xi， TANG Xue-mei 2021, 36(7): 490-493.  DOI: 10.19538/j.ek2021070603 Abstract ( )   Currently inborn error of immunity（IEI） has been used to replace primary immunodeficiency disease（PID）. IEI is a genetic disease with abnormal immune function caused by single gene mutation. Liver and spleen are important immune organs in the human body，which are closely related to the infection，lymphatic proliferation and autoimmunity that complicate IEI. This paper makes a summary of the problems of liver and spleen related to IEI.

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Primary immunodeficiency with malformation of gastrointestinal structure GU Yu，SUN Jin-qiao 2021, 36(7): 494-497.  DOI: 10.19538/j.ek2021070604 Abstract ( )   Primary immunodeficiency disease（PID） is a type of disease in which immune function is impaired due to genetic mutations. The most common clinical manifestation is repeated and severe infections. With the deepening of the understanding of PID，more and more types of PID diseases have been identified，and some of them are accompanied by gastrointestinal structural abnormalities in addition to impaired immune function. In order to understand this part of the disease better，this article reviews the PID with gastrointestinal structural abnormalities discovered in recent years.

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Chronic diarrhea and primary immunodeficiency HE Ting-yan，YANG Jun 2021, 36(7): 497-502.  DOI: 10.19538/j.ek2021070605 Abstract ( )   Chronic diarrhea is a common gastrointestinal symptom in pediatrics. The gastrointestinal tract is the biggest organ of the immune system，with the largest reservoir of lymphocytes in the human body. A variety of primary immunodeficiency diseases present with gastrointestinal manifestations，including refractory diarrhea，malabsorption，inflammatory bowel disease（IBD）/IBD-like，or failure to thrive. This article will describe the etiology，clinical clues，clinical features and management of chronic diarrhea associated with primary immunodeficiency disease.

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Expression and significance of serum high mobility group protein box 1 in Henoch-Schönlein purpura patients RUAN Xiao-xia，LUO Chong，AN Yun-fei，et al 2021, 36(7): 503-507.  DOI: 10.19538/j.ek2021070606 Abstract ( )   Objective　To investigate the serum level of high mobility group protein box 1（HMGB1） and its relationship with laboratory parameters in children with Henoch-Schönlein purpura（HSP），and to explore the role of HMGB1 in the pathogenesis of HSP and renal involvement. Methods　Eighty-three HSP patients newly diagnosed in Children’s Hospital of Chongqing Medical University from December 2017 to December 2019 were included. The patients without renal involvement were assigned as group A（45），and those with renal involvement were as group B（38）. Eighteen HSP patients in remission were included as group C and twenty healthy children as group D. Serum HMGB1 levels were measured by enzyme-linked immunosorbent assay and were compared among group A，B，and C，D and among children with different degrees of renal damage. The correlations between serum HMGB1 and laboratory parameters in HSP patients were analyzed. Results　The serum level of HMGB1 in group A，B，C and D was 10.71（6.81-16.03） μg/L，13.77（10.02-22.72） μg/L，7.58（5.73-10.83） μg/L，and 4.96（3.97-5.43） μg/L，respectively. The difference in serum HMGB1 levels between group A and B，group A and C，group A and D was statistically significant（P＜0.05）. Serum HMGB1 level in children with solitary hematuria（12 cases），solitary proteinuria（13 cases），hematuria and proteinuria（13 cases） was 10.98（8.07-16.38） μg/L，12.81（8.45-20.89） μg/L，17.39（13.02-27.79） μg/L，respectively；there was no significant difference in serum HMGB1 levels among the three groups（P＞0.05）. Serum HMGB1 levels was linearly positively correlated with white blood cell count，neutrophil percentage，serum IgA concentration，D-dimer and 24-hour urine protein quantification，and negatively correlated with the percentage of lymphocytes（P＜0.05）. Conclusion　The expression of serum HMGB1 is related to renal damage in HSP patients. HMGB1 may be involved in the acute inflammation of HSP.

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Clinical features and electroencephalographic characteristics of focal inhibitory motor seizure WANG Shi-yu，ZHAO Xuan，LI Ting，et al 2021, 36(7): 508-513.  DOI: 10.19538/j.ek2021070607 Abstract ( )   Objective　To investigate the clinical and electroencephalographic characteristics of focal inhibitory motor seizure in children in order to improve the understanding of this disease. Methods　The EEG characteristics，clinical manifestations，treatment and outcome of 5 children with focal inhibitory motor seizure were retrospectively analyzed. Results　Among the 5 cases，there were 4 males and 1 female，onset age ranging from 2 years and 3 months to 9 years. All children present with paralysis of one side of the body，awareness was retained，2 children had parethesia，and 1 child had aphasia. The seizures often lasted from a few seconds to ten minutes. 4 patients were observed epileptiform EEG abnormalities in the contralateral central，parietal and temporal region. 1 patient was normal in EEG，but the further magnetoencephalography showed that spikes were in contralateral central region. The glioneuroma in the right parietal cortex was found by MRI in 1 patient. Two patients were controlled with oxcabazepine，1 patient was treated with levetiracetam and there was fewer seisures after treatment（no attack in the 5-year follow-up）. Two patients were allergic to oxcabazepine，one received epilepsy surgery and one received tumor resection；the seizures were controlled after surgery. Conclusion　Focal inhibitory motor seizure is rare and it is easy to be misdiagnosed or missed.It is necessary to improve clinical understanding of the disease for early diagnosis and effective treatment.

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Relationship of folate and vitamin B12 with symptoms and mental development of children with autism spectrum disorder CAI Xiao-fan*，GUO Min，LIU Li-yan，et al 2021, 36(7): 514-517.  DOI: 10.19538/j.ek2021070608 Abstract ( )   Objective　To explore differences in the level of folate and vitamin B12（VB12） of children with autism spectrum disorder（ASD） and normal children，and to investigate correlation of folate and VB12 level with symptoms and mental development of autistic children. Methods　A total of 244 ASD children visiting Rehabilitation center of Hainan Maternal and Health Care Hospital from 2016 to 2017 were included in the study. The Autism Behavior Checklist（ABC） and Social Responsiveness Scale（SRS） were used to evaluate symptoms of children with ASD，and Gesell Developmental Scale（GDS） was used to evaluate mental development of children with ASD. A total of 93 healthy children from Haikou Kindergarten were selected in the same period as the control group. Folate and vitamin B12（VB12） levels were measured with immunoassay methods in two groups. Results　The folate level of 244 children with ASD（10.68±4.08） was significantly lower than that of 93 normal children（11.83±4.37）（P＝0.02）. No significant difference regarding VB12 level was found between two groups（P＞0.05）. No correlation was found between folate，VB12 levels and ABC，SRS scales. Folate level was positively correlated with adaptive behavior（rs＝0.17，P＝0.01），gross motor（rs＝0.29，P＜0.01），fine motor（rs＝0.13，P＝0.04），language（rs＝0.13，P＝0.04），and personal-social behavior（rs＝0.14，P＝0.03） of GDS. There was no correlation between VB12 and GDS. Conclusion　The children with autism have lower folate level than normal children，and folate level has no correlation with ASD. Folate level has significant correlation with mental development of autistic children. Folate may have close relationship with neuropsychological development. Therefore，folate supplement could become one of assistant methods in treatment of autistic children.

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Clinical analysis of 21 cases of pancreaticobiliary malformation complicated with children’s pancreatitis JIA Qian-ru，GUO Jing，SUN Mei 2021, 36(7): 518-522.  DOI: 10.19538/j.ek2021070609 Abstract ( )   Objective　To investigate the clinical features pancreaticobiliary malformation complicated with children’s pancreatitis. Methods　A total of 175 children with pancreatitis were included；21 hospitalized children with pancreatitis due to pancreaticobiliary malformation in the Department of Pediatric Gastroenterology，Shengjing Hospital were selected as the observation group，and 154 cases of pancreatitis caused by non developmental and noncalculous factors in the same period were included as control group. Their clinical data were collected for retrospective analysis. Results　The incidence of pancreaticobiliary malformation in pancreatitis was 12.0%. The average age of onset in the observation group was （4.1±2.4） years old，slightly lower than the control group（6.0±4.7）（P＞0.05）. The ratio of girls in the observation group was 66.7%，which was significantly higher than the control group（51.3%，P＜0.05）. In the observation group，glutamate aminotransferase，aspartate aminotransferase，γ-glutamyltransferase，and total serum bilirubin were significantly higher than those in the control group（P＜0.01）. MRCP had the highest positive detection rate（89.5%） for pancreaticobiliary malformation. The main imaging manifestations were pancreaticobiliary maljunction，congenital variation of pancreaticobiliary duct，and congenital biliary dilation. Conclusion　The pancreatitis in children caused by pancreaticbiliary malformation usually occurs in young children，and is more commonly seen in girls. When children with pancreatitis have cholestasis and abnormal liver function，imaging examinations such as MRCP should be performed as soon as possible to improve the detection rate of pancreaticobiliary malformation. Medical treatment can temporarily relieve symptoms，and treatment by intervention or surgical procedures should be performed as soon as possible to improve prognosis.

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Clinical features of hereditary spastic paraplegia type 31 and analysis of REEP1 gene mutation HU Qing-qing，SU Tang-feng，XU San-qing 2021, 36(7): 523-526.  DOI: 10.19538/j.ek2021070610 Abstract ( )   Objective　To explore the clinical features of hereditary spastic paraplegia（HSP） SPG 31 and the pathogenic mechanism of REEP1 gene mutation. Methods　The clinical data of a HSP family（SPG 31） and their gene sequencing results were retrospectively analyzed and literatures were reviewed. Results　In the family，6 members over 3 generations carried a novel heterozygous mutation in the REEP1 gene - c.425del（p.Gly142Valfs*81） with strong pathogenicity，which was not reported before，whose clinical symptoms varied in severity，mainly manifested by weakness of lower limbs，walking instability and spasm gait，and the proband presented with a slow progressive aggravation. Conclusion　HSP has significant clinical and genetic heterogeneity，and a novel REEP1 gene mutation may be the cause of  HSP in this family，but the exact conclusion needs to be further verified.

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Clinical manifestations of 4 cases of Lesch-Nyhan syndrome with onset at infancy and analysis of HPRT1 gene mutation and the literature review WANG Jun*，HAN Lin，WANG Yan，et al 2021, 36(7): 527-532.  DOI: 10.19538/j.ek2021070611 Abstract ( )   Objective　This study aims to summarize the clinical manifestations and genetic information of Chinese patients with infancy-onset Lesch-Nyhan Syndrome（LNS）. Methods　Whole-exome sequencing（WES） was conducted on 4 patients referred to the Department of Neurology，Children’s Hospital of Capital Institute of Pediatrics from 2017 to 2018，who were characterized by hyperuricemia，psychomotor delay，dystonia with or without self-mutilation. The Sanger sequencing was used for verification. The clinical and genetic information of LNS patients reported as Chinese origin were collected fromPubmed，Zhiwang and Wanfang public databases. Results　Four patients admitted in our hospital were diagnosed with LNS. Four pathogenic mutations in HPRT1 gene were identified from 4 patients，confirming their genetic diagnoses with LNS：two missense（c.49T＞A，p.Y17N and c.133A＞G，p.R45G），a nonsense（c.325C＞T，p.Q109*） and a frameshift（c.419delG，p.G140Afs*26） mutation.Two mutations（p.Y17N and p.G140Afs*26） among them are novel. After retrieving another 11 Chinese patients with infancy-onset LNS，the phenotype-genotype analysis showed three core phenotypes including intellectual delay，hyperuricemia，psychomotor delay were identified with complete penetrance，and patients with disrupt HPRT1 mutations present self-mutilation more early that ones with missense mutation. Conclusion　This study reported the clinical manifestations and genetic information of Chinese patients with infancy-onset LNS，and it broaden the mutation spectrum of HPRT1 in LNS patients. The potential correlations between phenotypes and genotypes were discussed as well. Genetic screening of LNS is highly recommended for the neonates with hyperuricemia and neurological disorders，which are helpful for early diagnosis and treatment.

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Longitudinal study of infant sleep problems and their influencing factors ZHOU Zi-qi，LI Zheng，YE Ya，et al 2021, 36(7): 533-537.  DOI: 10.19538/j.ek2021070612 Abstract ( )   Objective　To explore the major sleep problems and influencing factors of infants at the ages of 1 month and 6 months through longitudinal questionnaire survey. Methods　600 healthy infants aged 1 month were selected，who visited Chongqing Health Center for Women and Children from May to August 2014 for health management. A self-made sleep questionnaire was used to investigate the sleep status of infants at the age of 1 month and 6 months respectively.Logistic regression model was used to analyze the correlation between major sleep problems of infants and some factors，such as parents’ sleep behaviors. Results　The incidence of night-waking，difficulty in falling asleep and night crying at 1 month was 30%，17% and 14.1%，respectively，and at 6 months it was 7.3%，9.3% and 13.1%，respectively. The incidence of night-waking and difficulty in falling asleep in infants decreased significantly with the increase of month age（P＜0.05）. Results  of the Logistic regression analysis model of sleep problems of infants at 1 month old were：（1）body touch，sleeping alone，putting the infant back into bed after being picked up and making quiet，night feeding were the protective factors of night-waking，while diaper changing was the risk factor；（2）listening to music，orderly bedtime routine，comforting without holding，putting the infant back into bed after being picked up and making quiet were protective factors for difficulty in falling asleep，while diaper changing was the risk factor；（3）orderly bedtime routine，watching and waiting，holding until falling asleep were all protective factors of night-crying. Logistic regression model analysis results of sleep problems of infants aged 6 months were：（1）the risk factors of night-waking included putting the infant back into bed after being picked up and making quiet，holding the infant until falling asleep and changing diapers，and parent-child interaction before bedtime was the protective factor for night-crying；（2）listening to music，sleeping alone in a small bed and sleeping alone were protective factors for difficulty in falling asleep；（3）touching orderly bedtime routine and comforting without holding were protective factors for night-crying. Conclusion　Sleep problems in infants are common and decrease with the increase of age.The influencing factors of sleep problems at the age of 1 month and 6 months are different，so comprehensive preventive measures are beneficial to the prevention of infant sleep problems.

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Analysis of the relationship between G protein coupled estrogen receptor and autism spectrum disorder ZHAO Yan-ling，LI Shu-na，JIANG Ying，et al 2021, 36(7): 538-541.  DOI: 10.19538/j.ek2021070613 Abstract ( )

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PI3Kδ hyperactivity syndrome-a familial research and review of literature HAN Qiao-bei，YANG Jun，HE Ting-yan 2021, 36(7): 542-544.  DOI: 10.19538/j.ek2021070614 Abstract ( )

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Clinical and hereditary research progress in myoclonus-dystonia syndrome TIAN Xiao-juan，DING Chang-hong 2021, 36(7): 545-550.  DOI: 10.19538/j.ek2021070615 Abstract ( )

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Role of neural stem cell proliferation in the development of congenital neural tube defects in children FU Jia-lin，GU Hui，YUAN Zheng-wei 2021, 36(7): 551-554.  DOI: 10.19538/j.ek2021070616 Abstract ( )

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Report of one case of Tay-Sahcs disease WU Hu-jun，HUA Yi，ZHANG Wei-qin，et al 2021, 36(7): 555-557.  DOI: 10.19538/j.ek2021070617 Abstract ( )

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One case of DiGeorge syndrome combined with juvenile idiopathic arthritis and literature review JIANG Li-jun，PAN Jie，RONG Zan-hua，et al 2021, 36(7): 558-560.  DOI: 10.19538/j.ek2021070618 Abstract ( )