Journal of Clinical Pediatrics

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Journal of Clinical Pediatrics. 2021, 39(9): 640. doi:10.3969/j.issn.1000-3606.2021.09.000

Abstract ( 213 )

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Analysis of physical development of 101 very low birth weight infants at 3 years old

TAO Fangfang, HU Xuefeng, XIAO Lingli, et al

Journal of Clinical Pediatrics. 2021, 39(9): 641. doi:10.3969/j.issn.1000-3606.2021.09.001

Abstract ( 456 )

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Objective To explore the physical development of very low birth weight (VLBW) premature infants from discharge to 3 years of age. Methods The VLBW premature infants with birth weight < 1500 g delivered from January 1 , 2014 to December 31 , 2014 were selected. The physical growth indicators at 12 months of adjusted age, 24 months of adjusted age and 3 years of age were analyzed and compared. Results A total of 141 VLBW premature infants were delivered and 26 died with a survival rate of 81 . 6 %. Among the surviving VLBW preterm infants, 101 completed the follow-up (87 . 8 %). The difference in head circumference-for-age Z score (HcAZ) at 12 months of adjusted age, 24 months of adjusted age and 3 years of age was statistical significance (P< 0 . 05 ). Compared with the 24 months of adjusted age, the HcAZ at 3 years of age was significantly higher, and the difference was statistically significant (P< 0 . 05 ). The differences in lean body mass (LBM) and LBM percentages at 12 months of adjusted age, 24 months of adjusted age and 3 years of age were statistically significant (P< 0 . 05 ). LBM showed a gradual increase trend, and pairwise comparison of LBM among different ages showed statistical significance (P< 0 . 05 ). The percentage of LBM at 24 months of adjusted age and 3 years of age was higher than that at 12 months of adjusted age, and the difference was statistically significant (P< 0 . 05 ). According to the presence or absence of complications, VLBW preterm infants were divided into complication group ( 36 cases) and non-complication group ( 65 cases). There were no significant differences between the two groups in weight-for-age Z score (WAZ), length-for-age Z value (LAZ), HcAZ and body mass index-for-age Z score (BAZ) (P> 0 . 05 ). Conclusion With the increase of age, the physical development indices of VLBW premature infants gradually catch up. There is no significant difference in the physical development of VLBW premature infants with or without complications.

Analysis of risk factors for the prognosis of neonatal acute kidney injury

ZHANG Ting, LI Xiaowen

Journal of Clinical Pediatrics. 2021, 39(9): 646. doi:10.3969/j.issn.1000-3606.2021.09.002

Abstract ( 374 )

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Objective To explore the clinical characteristics of neonatal acute kidney injury (AKI) and the risk factors affecting the prognosis of AKI. Methods The clinical data of 105 neonates who met the diagnostic criteria for AKI and had complete clinical data from January 2012 to March 2019 were reviewed. According to the treatment outcome, the neonates were divided into the improved group and the abandonment/death group, and the clinical characteristics of the two groups were compared to analyze the risk factors affecting the prognosis of neonatal AKI. Results A total of 105 neonates with AKI were included, including 48 cases in the improvement group and 57 cases in the abandon/death group. Compared with the improvement group, the birth weight of the neonates in the abandon/death group was lower, the proportion of neonates with very low birth weight was higher, the minimum urine output value was lower, the ratio of urine output < 0 . 05 ). Multivariate logistic regression analysis showed that urine output < 1 mL/(kg·h) and respiratory failure were independent risk factors affecting the prognosis of neonatal AKI (OR=4.61, 95%CI: 1.68~12.63, P=0.003; OR=17.88, 95%CI: 5.61~56.98, P< 0 . 001 ). Conclusion The mortality of neonatal AKI is high. Oliguria and respiratory failure significantly increase the risk of poor prognosis in neonates with AKI.

Clinical study of spontaneous intestinal perforation in premature infants

YANG Huijie, WANG Zhengli, DENG Chun

Journal of Clinical Pediatrics. 2021, 39(9): 650. doi:10.3969/j.issn.1000-3606.2021.09.003

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Objective To explore the risk factors of spontaneous intestinal perforation (SIP) in premature infants. Methods A retrospective case-control study was designed. Preterm infants diagnosed of SIP and admitted from January 2010 to June 2020 were included in the SIP group. Preterm infants of the same gestational age and without intestinal perforation during the same period were randomly selected as the control group. The clinical characteristics between the two groups were analyzed and compared, and the risk factors of SIP were analyzed. Results A total of 21263 preterm infants were admitted during the study period, including 28 infants ( 14 boys and 14 girls) in the SIP group. The perforation age was 8 . 5 ( 2 . 5 - 11 . 0 ) days, gestational age was ( 32 . 9 ±2 . 5 ) weeks, and the birth weight was ( 1831 . 5 ±475 . 2 ) g. At the same time, 61 infants ( 36 boys and 25 girls) were included in the control group, with gestational age of ( 33 . 2 ±2 . 6 ) weeks and birth weight of ( 1869 . 5 ±493 . 8 ) g. Univariate analysis showed that there were statistically significant differences between the SIP group and the control group in the proportion of periventricular-intraventricular hemorrhage (PIVH) of grade Ⅲ and above, early-onset sepsis, septic shock, hypoproteinemia, anemia and dopamine exposure within one week (all P< 0 . 05 ). Conclusion PIVH grade Ⅲ and above, earlyonset sepsis, septic shock, hypoproteinemia, anemia, and dopamine exposure within one week may be related to SIP.

Clinical characteristics of Crisponi syndrome caused by a compound heterozygous variation in CRLF1

LIU Yinzhi, LIAO Zhenyu, YANG Hui, et al

Journal of Clinical Pediatrics. 2021, 39(9): 656. doi:10.3969/j.issn.1000-3606.2021.09.004

Abstract ( 487 )

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Objective To explore the clinical characteristics of Crisponi syndrome (CS) caused by a novel compound heterozygous variation in CRLF1 gene. Methods The clinical data of CS in one child was analyzed retrospectively. Results A boy had difficulty in opening his mouth, crying softly with dyspnea and spitting after birth. The boy had a small jaw and the mouth could not be fully opened. His fingers of hands and toes were slender, and the elbow joint, the middle finger and the ring finger of both hands could not be straightened. He had increased muscle tension in the extremities. The sucking and foraging reflexes were not elicited. The whole exome sequencing showed a novel compound heterozygous variations in CRLF1 gene, among which the frameshift variation of c.829_847del was from the father and the frameshift variation of c.713delC was from the mother. The compound heterozygous variation in this child has not been reported, but was determined to be harmful by bioinformatics analysis. According to the guidelines of the American College of Medical Genetics and Genomics, it was identified as Class Ⅰ pathogenic variant and Class Ⅱ possible pathogenic variant. The patient was eventually diagnosed with CS. Conclusions The main characteristics of CS are fever, flexion deformity, typical facial features, feeding and breathing difficulties, which may lead to sudden neonatal death. This is the first case of CS in China and it expands the spectrum of CRLF1 pathogenic variants.

10q22.3-q23.2 deletion syndrome combined with hypermethioninemia: a case report and literature review

WANG Yanyun, SUN Yun, JIANG Tao

Journal of Clinical Pediatrics. 2021, 39(9): 660. doi:10.3969/j.issn.1000-3606.2021.09.005

Abstract ( 553 )

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Objective To explore the clinical features of 10 q 22 . 3 q 23 . 3 deletion syndrome combined with hypermethioninemia. Methods The clinical data of 10 q 22 . 3 q 23 . 3 deletion syndrome combined with hypermethioninemia in a child were retrospectively analyzed. Results A male child had special facial features, including prominent forehead, low base of the nose, ocular hypertelorism, epicanthus, slightly upturned apex nasi, moderately philtrum and low ear position, and no other special abnormalities were observed. The detection by tandem mass spectrometry found that methionine (MET) was 306. 02 μmol/L at 72 hours after birth, and rose to 695. 37 μmol/L at recall for examination. Familial verification analysis showed that the father of the child had 10q22.3q23.2 microdeletion syndrome, and the deletion CNV was de novo. The mother of the child carried a heterozygous variation of c. 74 _ 75 delTG (p.Val25GlyfsX7) in MAT1A gene. The final diagnosis genotype of the prohand was 10q22.3q23.2 deletion/c.74_75delTG (p.Val 25 GlyfsX 7 ), which leaded to 10 q 22 . 3 q 23 . 3 microdeletion syndrome with hypermethioninemia. After diagnosis, the proband was given low-methionine diet combined with rehabilitation training. The compliance of the families was so poor that the proband’s MET was controlled at around 700 μmol/L. There was no abnormality in liver function and large motor development. However, the language development was delayed. Conclusions The first case of 10 q 22 . 3 q 23 . 3 microdeletion syndrome combined with hypermethioninemia is reported. The prognosis of 10 q 22 . 3 q 23 . 3 microdeletion syndrome varies greatly because of the incomplete penetrance. When MET exceeds 600 μmol/L, low methionine diet is needed as soon as possible.

Current status of antimicrobial therapy and analysis of antibiotic sensitivity in invasive Pseudomonas aeruginosa infection in children

GAO Yawen, XU Huiting, PENG Lengyue, et al

Journal of Clinical Pediatrics. 2021, 39(9): 663. doi:10.3969/j.issn.1000-3606.2021.09.006

Abstract ( 322 )

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Objective To explore the current situation of antibiotic treatment of invasive Pseudomonas aeruginosa infection (IPAI) and the drug sensitivity test results of isolated strains. Methods The clinical data and the results of the drug sensitivity test of 61 invasive Pseudomonas aeruginosa (IPA) strains in 61 children with IPAI hospitalized from January 2014 to March 2019 were retrospectively analyzed. The clinical characteristics of 48 children with empirical anti-Pseudomonal aeruginosa treatment and 13 children with non-anti-Pseudomonal aeruginosa treatment were compared. Meanwhile, the clinical characteristics of 27 children with empirical carbapenem treatment and 19 children with non-carbapenems treatment were compared. Results Among 61 children with IPAI, 37 were boys and 24 were girls, with a median age of 2 . 1 ( 0 . 6 - 9 . 1 ) years. Twelve children ( 19 . 67%) died in hospital, and 15 children ( 24 . 59%) suffered from septic shock. The hospitalization days after infection in the non-anti-Pseudomonal aeruginosa treatment group was significantly longer than that in the antiPseudomonal aeruginosa treatment group (P= 0. 042 ), while there was no significant difference in pediatric intensive care unit (PICU) admission, hospital mortality and septic shock incidence (P> 0 . 05 ). The PICU admission, hospital mortality, septic shock incidence and length of hospital stay after infection was similar between empirical carbapenem treatment group and non-carbapenem treatment group (P>0 . 05 ). The sensitivity rate of 61 IPA strains to piperacillin-tazobactam, ceftazidime and cefepime was 85 %- 90 %, and the sensitivity rate to imipenem and meropenem was 90 %- 95 %. Conclusions IPA strains in Chongqing area were highly sensitive to commonly used antibacterial agents against Pseudomonas aeruginosa. Penicillins, cephalosporins or the β-lactamase inhibitor combinations can be used as the first choice for the empirical treatment of IPAI in children.

Risk factors of complications related to vascular puncture during cardiac catheterization in children

WU Yibei, ZHANG Zhifang

Journal of Clinical Pediatrics. 2021, 39(9): 670. doi:10.3969/j.issn.1000-3606.2021.09.007

Abstract ( 340 )

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Objective To explore the occurrence, prognosis and influencing factors of vascular puncturerelated complications during cardiac catheterization. Method The clinical data of 1488 children undergoing cardiac catheterization from January to December 2019 was retrospectively analyzed. Results The vascular puncture related complications after cardiac catheterization happened in a total of 74 children ( 5 . 0 %) including 39 boys and 35 girls with a median age of 60 . 0 ( 25 . 0 - 108 . 0 ) months. There were 64 cases of hematoma at the puncture site, 5 cases of femoral arteriovenous fistula, 3 cases of pseudoaneurysm and 2 cases of thrombosis. Compared with the non-complication group, the age, weight and length (height) of the complication group were higher; the proportions of artery puncture, preoperative anticoagulation, use of large catheter sheath and postoperative congenital heart disease were also higher. The differences were statistically significant (P< 0 . 05 ). Conclusions The incidence of vascular puncture related complications after cardiac catheterization in children was 5 %. Preoperative anticoagulant therapy, intraoperative puncture of arterial vessels, implantation of large catheter sheath and previous history of congenital heart disease surgery are more likely to lead to complications.

Analysis of laboratory metabolic indices of hematopoietic stem cell transplantation in the treatment of mucopolysaccharidosis type Ⅱ

ZHONG Lin, GAO Xiaolan, ZHANG Huiwen, et al

Journal of Clinical Pediatrics. 2021, 39(9): 673. doi:10.3969/j.issn.1000-3606.2021.09.008

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Objective To explore the efficacy of hematopoietic stem cell transplantation (HSCT) in the treatment of mucopolysaccharidosis type Ⅱ (MPS Ⅱ) by laboratory metabolic indices. Methods The age of hematopoietic stem cell transplantation, the activity of iduronate- 2 -sulfatase (IDS) in peripheral blood leukocytes, the qualitative and electrophoretic results of urinary glycosaminoglycan (GAG) before and after treatment were retrospectively analyzed among 23 MPS Ⅱ children. Results A total of 23 boys were included, with a median transplant age of 4 . 5 years ( 1 . 75 - 12 years). The IDS activity of 23 children before transplantation was significantly lower than the normal value. One hundred days after transplantation, 90 . 9% ( 20 /22 ) of the children had normal IDS activity. By 2 years after transplantation, 100 % ( 9 /9 ) of the children had normal IDS activity. Two years after transplantation, activity was stable in the normal range. There was no statistical difference in IDS activity values of the MPS Ⅱ patients after transplantation in 2 years (P> 0 . 05 ). The content of urinary GAG decreased in 53 . 3 % ( 8 /15 ) of the patients 100 days after transplantation. By the time of data collection, 75 . 0 % ( 15/20 ) of children had decreased urine GAG content after transplantation compared with that before transplantation, but only 2 cases ( 10 . 0 %, 2 /20 ) of children had completely negative urine GAG after transplantation. Conclusions HSCT can restore IDS activity in peripheral blood leukocytes to normal value in MPS Ⅱ children, but it has limited effect on reducing urinary GAG content. It can reduce urinary GAG content to a certain extent, but most of them do not reach the normal level.

Impact of caregiver burden on quality of life in Noonan syndrome children

LIU Zuojia, WANG Xiumin, TANG Jiali, et al

Journal of Clinical Pediatrics. 2021, 39(9): 677. doi:10.3969/j.issn.1000-3606.2021.09.009

Abstract ( 316 )

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Objective To explore the quality of life (QoL) and care burden of Noonan syndrome children. Methods The quality of life and care burden of children with Noonan syndrome were investigated by general data questionnaire, pediatric quality of life inventory 4.0 generic core scales (PedsQL 4.0) and caregiver burden inventory (CBI). Results The median age of 96 children (40 boys and 56 girls) with Noonan syndrome was 4.0 (3.0-5.0) years. The total score of PedsQL in children with Noonan syndrome was 49.3(34.24-59.8), which was far lower than the national norm ( 81. 81 ± 12. 03 ), and the difference was statistically significant (P<0.001). The total score of CBI of primary caregiver was 43. 5 ( 29. 5 - 52. 0 ), indicating a moderate burden. The score of life quality was significantly positively correlated with the total burden score of caregivers (r=0.65, P<0.01), and was significantly positively correlated with three dimensions (time-dependent burden, developmental constraint burden and physical burden) (P< 0. 05 ). There were statistically significant differences in PedsQL scores among families in only child, occupations and education levels of caregivers (P<0.05). Multivariate regression analysis suggested that timedependent burden, developmental constraint burden and physical burden contributed 22.0% to the prediction of life quality. Medical and genetic counseling (100%), multidisciplinary team management (93.8%), rehabilitation training (79.2%), and vaccination (58.3%) were the primary needs of Noonan families in their care. Conclusions The life quality of children with Noonan syndrome is severely low and the burden on caregivers is heavy. Early diagnosis, medical genetic counseling and long-term management planning of Noonan syndrome deserve attention.

Establishment and evaluation of hypothermia nomogram after cardiopulmonary bypass in children with congenital heart disease

CHEN Yu, XU Weihong, WANG Siyuan

Journal of Clinical Pediatrics. 2021, 39(9): 682. doi:10.3969/j.issn.1000-3606.2021.09.010

Abstract ( 317 )

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Objective To investigate the risk factors of hypothermia in children with congenital heart disease (CHD) after cardiopulmonary bypass (CPB) rewarming, and to establish an individualized linear model to predict the risk of postoperative hypothermia. Methods The clinical data of children with CHD who underwent CPB between January 1 , 2019 and April 30 , 2019 were retrospectively analyzed. The independent risk factors of hypothermia after CPB in children with CHD were analyzed by binary logistic regression model. The R software was used to construct the prediction risk nomogram, and the prediction efficiency of the model was evaluated by ROC curve. Results Among the 711 children, 239 children ( 33 . 6 %) met with hypothermia after surgery during the study period, including 128 boys and 111 girls, with a median age of 13 months ( 5 . 7 - 36 months). The results of binary logistic regression analysis showed that the preoperative high nutritional score, longer fasting time, lower CPB flow temperature and CPB shutdown temperature < 36 ℃ were independent risk factors for hypothermia after CPB reheating (P< 0 . 05 ). Based on the above independent risk factors, the nomogram model was established. The area under ROC curve (AUC) of the model was 0 . 887 ( 95 %CI: 0 . 858 ~ 0 . 915 ), the Youden index was 0 . 734 , the sensitivity was 0 . 836 , and the specificity was 0 . 898 . Based on existing data, the total prediction accuracy, sensitivity and specificity were 79 . 8%, 57 . 1% and 90 . 9 % respectively. Conclusions Based on the four independent risk factors of preoperative nutrition, fasting time, CPB regimen, and CPB shutdown temperature, the nomogram model has a good predictive performance, and has a good clinical application value in the prediction of unplanned hypothermia after CPB reheating in children with CHD.

Combined oxidative phosphorylation deficiency-21: a case report and literature review

ZOU Dongfang, WEN Feiqiu, LIAO Jianxiang

Journal of Clinical Pediatrics. 2021, 39(9): 687. doi:10.3969/j.issn.1000-3606.2021.09.011

Abstract ( 1149 )

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Objective To explore the clinical features and molecular genetic characteristics of combined oxidative phosphorylation deficiency- 21 (COXPD 21 ). Method The clinical data of COXPD 21 in a child were retrospectively analyzed and the related literature was reviewed. Results A 6 -month-old boy had developmental retardation. Epilepsy began at 3 months of age and was manifested with focal seizures, spasms, and myoclonus. The convulsions aggravated after respiratory infections, accompanied by comma, cyanosis, breathlessness, low cardiac sound, hepatomegaly, muscular hypertonia of extremities. The laboratory examinations showed diffuse myocardial damage, severe acidosis and hyperlactic acidemia. Whole genome sequencing (WGS) revealed that the proband had compound heterozygous variations in the TARS 2 gene, c. 987 _ 988 insA and c. 470 C>G, both of which were new variations. The child was diagnosed with COXPD 21 and died at the age of 7 months. Conclusions COXPD 21 has an early onset and poor prognosis, and can lead to severe metabolic encephalopathy. It is caused by TARS2 gene variation. This is the first reported case of COXPD 21 confirmed by genetic testing in China.

Hypofibrinogenemia caused by tocilizumab in the treatment of vasculitis in children: a case report and literature review

LING Jiayun, HE Tingyan, WENG Ruohang, et al

Journal of Clinical Pediatrics. 2021, 39(9): 691. doi:10.3969/j.issn.1000-3606.2021.09.012

Abstract ( 582 )

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Objective To explore the risk and safety of tocilizumab (TCZ) induced hypofibrinogenemia in patients with rheumatic immune diseases. Methods The clinical data of hypofibrinogenemia caused by TCZ in the treatment of vasculitis in a child were retrospectively analyzed, and the relevant literature was reviewed. Results A 12 -year-old boy presented with a painful erythema-like rash on the limbs, accompanied by swelling and pain in the lower limbs and restricted mobility. The skin pathology showed vasculitis-like changes. The treatment effect of prednisone and cyclophosphamide in the child was not satisfactory. Hypofibrinogenemia occurred 2 weeks after the treatment with TCZ, and the level of fibrinogen increased 6 weeks after discontinuation of TCZ. There were minimal hemoptysis twice during the period. Foreign literature has reported that patients treated with TCZ have a higher risk of surgical bleeding. TCZ induced hypofibrinogenemia may be related to drug-induced cytokine imbalance and secondary coagulation factor ⅩⅢ deficiency. Conclusion TCZ treatment can cause hypofibrinogenemia and even secondary severe bleeding. The coagulation function should be monitored during the treatment process, especially the level of fibrinogen and the activity of coagulation factor ⅩⅢ.

Clinical analysis of agranulocytosis complicated with viridans streptococcal sepsis in leukemia children

WAN Yuanyuan, WU Jun, ZHANG Leping

Journal of Clinical Pediatrics. 2021, 39(9): 695. doi:10.3969/j.issn.1000-3606.2021.09.013

Abstract ( 347 )

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Objective To explore the risk factors and clinical characteristics of agranulocytosis combined with viridans streptococcal bacteremia in children with leukemia. Methods The clinical data of 111 children with agranulocytosis complicated with sepsis were analyzed retrospectively. Results A total of 136 instances of sepsis occurred in 111 children, and 138 strains were detected, of which 25 strains were viridans streptococcus. Among the 25 insatnces (12 boys and 13 girls) of viridans streptococcal sepsis, the median age at the onset of sepsis was 98 ( 66- 138 ) months, the median time from the end of the last chemotherapy was 9 ( 6 - 10 ) d, and the median duration of agranulocytosis was 5 ( 4 - 6 ) d. The median value of neutrophils at the onset of sepsis was 0 . 01 ( 0 - 0 . 01 ) ×109 /L. All the 25 cases had fever, with a heat peak of ( 39 . 3±0 . 7 ) ℃, and the median duration of fever was 1 . 5 ( 1 . 0 - 2 . 8 ) d. Among them, 11 cases had oral infections, 7 cases had upper respiratory tract infections, 3 cases had secondary lung infection, 1 case had gastroenteritis, 1 case had combined toxic encephalopathy, and 5 cases had no other infection symptoms except fever. The 138 strains were divided into three groups: viridans streptococcus group (25 strains), non-viridans streptococcus gram-positive bacteria group (14 strains), and gramnegative bacteria group ( 99 strains). There were statistically differences in age, proportion of acute myeloid leukemia, the peak heat and incidence of oral infection among the three groups (P< 0 . 05 ). The viridans streptococcus group had higher proportion of acute myeloid leukemia and oral infection. Viridans streptococci were 100 % sensitive to vancomycin, linezolid and chloramphenicol, and had a high resistance rate to macrolides and penicillins. Conclusions Viridans streptococci are a common pathogen of agranulocytosis complicated with sepsis. Acute myeloid leukemia and oral infection are high risk factors for viridans streptococci infection. Vancomycin and linezolid can be used as empirical drugs for children with agranulocytosis fever complicated with oral infection.

Beals-Hecht syndrome: a case report and literature review

ZHON Huanzhen, WANG Aiping

Journal of Clinical Pediatrics. 2021, 39(9): 700. doi:10.3969/j.issn.1000-3606.2021.09.014

Abstract ( 549 )

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Objective To report a case of Beals-Hecht syndrome with a new heterozygous variation in FBN 2 gene. Methods The clinical data of Beals Hecht syndrome in a child were retrospectively analyzed, the related literatures were reviewed and its clinical features and genotypes were summarized. Results A boy, aged 3 months and 28 days, had wrinkled ears, multi-joint flexion contracture and lower extremity muscular dysplasia. Gene analysis showed that there were two new heterozygous variants in the FBN2 gene of the child, c.2944 T>G (p.C 982 G) and c.6518 A>G (p.N 2173 S), both of which were missense variants. Conclusion Beals-Hecht syndrome involves multiple systems, and gene detection is helpful for diagnosis.

Clinical analysis of 27 children with secondary intussusceptions caused by intestinal polyps

WU Peiqun, YANG Min, GENG Lanlan

Journal of Clinical Pediatrics. 2021, 39(9): 703. doi:10.3969/j.issn.1000-3606.2021.09.015

Abstract ( 396 )

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Objective To investigate the clinical features and risk factors of intestinal intussusception in children with intestinal polyps. Methods The clinical data of a number of 27 children with intestinal polyps undergone intussusception were retrospectively analyzed. Results Among the 27 cases, there were 17 males and 10 females, aged from 11 months to 16 years old, with an median age of five years. The median duration of disease was three days ( 4 hours to 13 years). The median hospital day was nine ( 5 ~ 14 ) days. Paroxysmal abdominal pain was the main symptom, followed by nausea and vomiting. All 27 cases were treated with air enema, and 17 cases were successful, including four cases of ileocolic intussusception and 13 cases of colo-colonic intussusception. 10 cases were treated by surgery after failed in air enema, including two cases of ileocolic intussusception, three cases of colo-colonic intussusception and five cases of small bowel intussusception. The proportion of colocolonic intussusception was higher in the successful group, while the proportion of small bowel intussusception was higher in the failed group, with statistical significance (P= 0 . 004 ). Colonic polyps were confirmed in 18 cases and small intestinal polyps in 7 cases by colonoscopy and surgery of 25 cases. Nine cases were Peutz-Jeghers Syndrome among them. Sixteen cases were pathologically diagnosed as juvenile polyps. The proportion of small polyps ( 1 . 5 ~ 2 . 5 cm) was higher in the juvenile polyp group, while the proportion of large polyps (≥4 . 0 cm) was higher in the Peutz-Jeghers Syndrome group, and the difference was statistically significant (P= 0 . 021 ). Binary logistic regression analysis showed that Peutz-Jeghers Syndrome was an independent risk factor for recurrence of intussusception (OR= 7 . 82 , 95 %CI: 1 . 16 - 52 . 69 , P= 0 . 035 ). Conclusions Intestinal polys greater than or equal to 1 . 5 cm are prone to intussusception. The risk of recurrence of intussusception can be increased by Peutz-Jeghers Syndrome. Colo-colonic intussusception was more likely to be successfully treated by air enema, but the polys should be removed by endoscopy as soon as possible.

Advances in molecular genetics, diagnosis, and treatment of malignant rhabdoid tumors in children

TANG Xue, GUO Xia

Journal of Clinical Pediatrics. 2021, 39(9): 706. doi:10.3969/j.issn.1000-3606.2021.09.016

Abstract ( 396 )

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Malignant rhabdoid tumors (MRTs) are a group of highly malignant and highly aggressive embryonic tumors that tend to occur in infants and young children. According to primary locations, childhood MRTs are classified into atypical teratomoid/rhabdoid tumors of the central nervous system (AT/RT), malignant rhabdoid tumor of the kidney (MRTK) and extrarenal extracranial rhabdoid tumor (EERT). The deletion of SMARCB1 gene and loss of its encoded protein INI 1 are the driving genetic defects and important diagnostic evidence of MRTs in children. The prognosis of MRTs in children is poor, and the overall survival rate is only about 40 % even after the combined treatment of surgery, radiotherapy, chemotherapy and autologous hematopoietic stem cell transplantation. This article reviews the progress of abnormal molecular genetics and targeted therapy of MRTs in children.

Research progress of granzyme A and its related diseases

NIU Rongwei

Journal of Clinical Pediatrics. 2021, 39(9): 711. doi:10.3969/j.issn.1000-3606.2021.09.017

Abstract ( 641 )

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Granzyme A (GzmA) is a serine protease secreted by natural killer cells and cytotoxic T lymphocytes. It can regulate the body's immune defense by inducing apoptosis and pyrolysis, and it can also kill bacteria and parasites that invade the host cells to maintain body homeostasis. Recent studies have found that GzmA influences the pathogenesis and development of tuberculosis, sepsis, and rheumatoid arthritis by regulating the release of IL- 6 and TNF-伪, and also it can activate pSTAT 3 to promote the development of intestinal inflammation and colorectal cancer. This article reviews the characteristics and functions of GzmA, as well as its role in inflammatory process, autoimmune diseases and tumors.

Progress in treatment of childhood acute myeloid leukemia

WU Jun, ZHANG Leping

Journal of Clinical Pediatrics. 2021, 39(9): 715. doi:10.3969/j.issn.1000-3606.2021.09.018

Abstract ( 365 )

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Acute myeloid leukemia (AML) is a malignant clonal disease in which abnormal bone marrow hematopoietic precursor cells accumulate due to differentiation disorder and excessive proliferation of the hematopoietic stem cells. In recent years, with the rational application of risk stratification, continuous research and development of the targeted drugs, advancement of supportive treatments and maturity of the hematopoietic stem cell transplantation technology, the survival rate of pediatric AML has been significantly improved. This article reviews the progress in the treatment of pediatric AML.

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