Journal of Clinical Pediatrics

Clinical analysis of cytomegalovirus infection after allogeneic hematopoietic stem cell transplantation in children

ZHU Chenglin, CHEN Guanghua, ZHAI Zong, et al

Journal of Clinical Pediatrics. 2020, 38(9): 641. doi:10.3969/j.issn.1000-3606.2020.09.001

Abstract ( 453 )

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Objective　To explore the risk factors and clinical characteristics of cytomegalovirus (CMV) infection after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children. Methods　The clinical data of allo-HSCT in 269 children from January 2016 to December 2018 were collected. The copies of CMV-DNA in whole blood after transplantation were monitored. The incidence, time, risk factors, and prognosis of CMV infection were analyzed. Results　A total of 269 cases (167 males and 102 females) were included and median age was months (33 - 115 months). Among them, 165 cases had CMV infection and the infection rate was 61.3%. The infection occurred 23 days (15 - 34 days) after transplantation, and the infection lasted 38 days (25 - 66 days). Multivariate logistic regression analysis showed that transplantation age > 65 months and grade Ⅱ-Ⅳ aGVHD after transplantation were risk factors for CMV infection, while sibling donor hematopoietic stem cell transplantation (Sib-HSCT) could reduce the incidence of CMV infection (P < 0.05). The occurrence of grade Ⅱ-Ⅳ aGVHD and the use of cord blood transplantation are associated with the incidence of refractory CMV infection (P < 0.05). The difference of the overall survival rate and disease-free survival rate between the refractory CMV infection group and the non-refractory CMV infection group was statistically significant (P < 0.05). Conclusion　The risk of CMV infection can be increased by older children and Ⅱ-Ⅳ aGVHD, while the risk can be reduced by Sib-HSCT. Refractory CMV infection was likely to occur after umbilical cord blood transplantation, and the initial detection time of refractory CMV infection was early and the peak value was high.

Analysis of myeloid tumor-related gene mutations in 293 patients with aplastic anemia

FAN Ye, YIN Hua, HU Shaoyan, et al

Journal of Clinical Pediatrics. 2020, 38(9): 647. doi:10.3969/j.issn.1000-3606.2020.09.002

Abstract ( 429 )

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　Objectives　To explore the relationship between 25 kinds of myeloid tumor gene mutations and acquired aplastic anemia (AA). Methods　The clinical data of AA in 293 children and adults were collected. Twenty five kinds of myeloid tumor gene mutations were detected by second-generation sequencing, and the results were analyzed. Results　Among 293 AA patients (155 boys and 138 girls), there were 142 children and adolescents and 151 adults. There were 178 cases of non-severe AA and 115 cases of severe or very severe AA. The myeloid tumor gene mutations were detected in 19 patients (6.48%), and they were ASXL1 (1 case), KRAS (1 case), PIGA (2 cases), TP53 (2 cases), BCOR (2 cases), TET2 (5 cases), SF3B1 (2 cases), DNMT3A (2 cases), SH2B3 (1 case) and MPL (1 cases). In the 19 patients with genetic variations, there were 6 boys (3.87%) and 13 girls (9.42%) and difference was not statistically significant (P>0.05). Four (2.82%) children and adolescents had variation and 15 (9.93%) adults had variation, and the difference was statistically significant (P<0.05). The genetic variation were in 14 cases in non-severe AA patients (7.78%) and in 5 cases in severe or very severe AA patients (4.35%), and difference was not statistically significant (P>0.05). After 6 months of immunosuppressive therapy, the effective rates in mutation group and non-mutation group were 73.68% (14/19) and 63.18% (151/239) respectively, and the difference was not statistically significant (P>0.05). Conclusion 　In AA patients, the mutation rate from 25 myeloid tumor gene mutations was 6.48%. The mutation rate of children was less than that of adults. Whether there was gene mutation or not had no impacts on the effect of combined immunosuppressive therapy.

Analysis of 131I therapy of pulmonary metastasis in differentiated thyroid cancer in 14 children

LI Na, DI Yuqing, GAO Hongbo, et al

Journal of Clinical Pediatrics. 2020, 38(9): 651. doi:10.3969/j.issn.1000-3606.2020.09.003

Abstract ( 343 )

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Objective　To explore the clinical features of pulmonary metastasis of differentiated thyroid cancer (DTC) in children and the therapeutic effect of 131I. Methods　The clinical data of pulmonary metastasis of DTC in 14 patients who were ≤18 years old at the time of initial 131I treatment were retrospectively analyzed. Results　In 14 children (5 males and 9 females) an average age was (12.71±3.05) years. All the children were received 131I treatment after total or subtotal thyroidectomy and 131I treatment was received 4 times averagely and a median cumulative dose was 9.43 (8.25 - 19.74) GBq. After treatment, lesions were completely eliminated in 4 cases (28.6%), improved or stabilized in 8 cases (57.1%) and ineffective or progressive in 2 cases (14.3%). The effective rate was 85.7% (12/14). The median follow-up time was 63.4 months (6 - 124 months), with a survival rate of 100%. The median progression free survival time was 63.5 months. The 2-year progression free survival rate was 84.61% and the 5-year progression free survival rate was 80.0%. Conclusion　The incidence of lung metastasis of DTC is high in children, and 131I treatment is effective.

Clinicopathological analysis of large B-cell lymphoma with IRF4 gene rearrangement in children

WU Chongjun, HUANG Hui, XIONG Ting, et al

Journal of Clinical Pediatrics. 2020, 38(9): 655. doi:10.3969/j.issn.1000-3606.2020.09.004

Abstract ( 1129 )

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Objective　To explore the clinical and pathological features of large B-cell lymphoma with IRF4 gene rearrangement in children. Method　The clinical data of large B cell lymphoma with IRF4 gene rearrangement in 3 children were retrospective analyzed. Results　All the three cases were male and the age at onset was from 5 years and 4 months to 7 years and 10 months. The onset sites were tonsils, ileocecal, and cervical lymph nodes. The findings in histopathological morphology and immunohistochemistry of 3 children after surgery showed that the tumor cells were nodular or diffusely distributed. The tumor cells all expressed CD20, MUM1, BCL-6, and BCL-2, and they expressed CD10 in 2 cases. FISH was performed and showed fracture in IRF4 gene were negative in 2 cases and was positive in 1 case. All patients were diagnosed of large B-cell lymphoma with IRF4 gene rearrangement. All 3 cases were treated according to the CCCG-NHL-2016 regimen, 2 cases in group R2 and 1 case in group R3. Two patients had finished chemotherapy for more than one year, and no recurrence was found up to now. A child in R2 group with onset site of cervical lymph node was still under treatment and had achieved complete remission. Conclusion　Large B-cell lymphoma with IRF4 gene rearrangement in children is rare. FISH detection of IRF4 gene is helpful for diagnosis and its treatment can be according to the CCCG-NHL-2016 regimen.

Severe hereditary von Willebrand disease in children: a report of 2 cases and clinical analysis

WANG Yiming, LI Bai, LIU Yufeng

Journal of Clinical Pediatrics. 2020, 38(9): 658. doi:10.3969/j.issn.1000-3606.2020.09.005

Abstract ( 325 )

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Objective　To explore the clinical characteristics and gene variation of severe hereditary von Willebrand disease (VWD) in children. Methods　The clinical data of VWD in 2 children were retrospectively analyzed. The activity of von Willebrand factor (VWF) was detected by immunoturbidimetry. Peripheral blood samples were collected from the patients and their parents. High-throughput gene sequencing was performed to analyze the variation of all exon coding regions and splicing regions of F7, F8, F9, F11 and VWF genes. The variation of VWF gene locus was analyzed by PCR combined with Sanger sequencing. Results　Two boys, aged 1 and 2 years respectively, were clinically characterized by mucocutaneous hemorrhage, and the von Willebrand factor activity (VWF: Act) was <5.0% and <2.8%, respectively. In case 1, the coagulation activity of plasma factor Ⅷ (FⅧ: C) was 1.9%, and the coagulation activity of plasma factor Ⅻ (FⅫ:C) was 43.2%. The FⅧ: C in case 2 was 23%. A homozygous variation of c.813C>G (p.Tyr271Ter) was detected in VWF gene of case 1; both of his parents were heterozygous variation. In case 2, heterozygous variations of c.55G>A (p.Gly19 Arg) and c.1200 C>A (Asp400Glu) were detected in VWF gene, which came from his father and mother, respectively. The c.813C>G (p.Tyr271Ter) variation was associated with type 3 VWD. The mutation rate of c.55G>A (p.Gly19 Arg) was extremely low and was related to type 1 VWD. The mutation of c.1200 C > A (asp400glu) has not been reported, but the software SIFT、Polyphen and MutationTaster all predicted its pathogenicity. Both patients improved after hemostasis and replacement therapy. Conclusion　One case of severe type 1 VWD and one case of severe type 3 severe type 1 VWD were confirmed by gene testing. A new mutation 1200 C>A (Asp400Glu) in VWF gene was found.

Childhood acute lymphoblastic leukemia with hypercalcemia and bone changes as the first manifestation

WU Chongjun, XIONG Ting, XU Zhongjin

Journal of Clinical Pediatrics. 2020, 38(9): 662. doi:10.3969/j.issn.1000-3606.2020.09.006

Abstract ( 342 )

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　Objective　To explore the clinical features, diagnosis and treatment of childhood acute lymphoblastic leukemia (ALL) with bone changes and hypercalcemia as the first manifestation. Method　The clinical data of childhood B-cell ALL with bone changes and hypercalcemia as the first manifestation were retrospectively analyzed. Results　A boy, aged 6 years and 5 months old, started with abdominal pain. Bone changes and hypercalcemia were found at the initial examination, and ALL was confirmed later. The child was received oral administration of imatinib in addition to CCLG-ALL-2015 chemotherapy, and has been in remission. Conclusion　Hypercalcemia and bone changes can be the first manifestation of B cell ALL

Analysis of autonomic nervous function in asymptomatic vasovagal syncope in children

TONG Ke, HE Shuang, MING Li, et al

Journal of Clinical Pediatrics. 2020, 38(9): 665. doi:10.3969/j.issn.1000-3606.2020.09.007

Abstract ( 372 )

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Objective　To explore the diagnostic value of heart rate deceleration (DC) in asymptomatic vasovagal syncope (VVS). Methods　Forty-five children diagnosed with VVS from January 2018 to December 2019 were selected as the VVS group, and 45 healthy children who underwent outpatient physical examination during the same period were selected as the control group. The 24h dynamic electrocardiogram was performed. The changes of baseline DC value, heart rate deceleration runs (DRs) and heart rate variability (HRV) between VVS and healthy children were compared, and the above indicators were compared by age and gender groups. At the same time, the correlation between DC and HRV related-indicators, and the predictive value of DC for VVS diagnosis were analyzed. Results　The DC value, DR8, and the ratio of low frequency power to high frequency power (LF/HF) in the VVS group were significantly higher than those in the control group, and the differences were statistically significant (P<0.05). In VVS group, DC value, DR4 and LF of school-age children were significantly lower than those of adolescent children (P<0.05). However, there was no statistically significant difference in DC value, DRs and HRV indexes between male and female children (P>0.05). The control group was divided into groups by age and gender, and there were no statistically significant differences in DC value, DRs and HRV indexes between different groups (P>0.05). In school-age children, the DC value of VVS group was significantly higher than that of control group. In adolescent children, DC value, DR4, DR8 and LF of VVS group were significantly higher than those of control group (P<0.05). DC was positively correlated with HRV indexes (r=0.31~0.67, P<0.05), and negatively correlated with LF/HF (r=－0.36, P<0.05). Binary logistic regression analysis showed that only DC was associated with VVS in adolescent children (P<0.05). The receiver operating characteristic curve (ROC) was used to analyze the predictive value of DC, and it was found that when the DC value was 7.72 ms in school age children and 8.36 ms adolescent chidlren, there was good sensitivity and specificity. Conclusion　The autonomic nerve function was abnormal in asymptomatic stage of VVS children, and it became more significant with age. Both school-age and adolescent children with VVS had increased vagus nerve tension, and adolescent VVS children had a certain degree of increased sympathetic nerve tension. The DC has an obvious positive correlation with vagus nerve tension and has a good predictive value for the diagnosis of VVS.

Relationship between genotype and phenotype of phenylalanine hydroxylase deficiency in children and its clinical application

ZHANG Zhang, ZHANG Liqin, DU Wei, et al

Journal of Clinical Pediatrics. 2020, 38(9): 671. doi:10.3969/j.issn.1000-3606.2020.09.008

Abstract ( 471 )

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　Objective　To explore the PAH gene variation spectrum of phenylalanine hydroxylase (PAH) deficiency in children, and to explore the relationship between genotype and phenotype. Method　The PAH gene mutation sites in 76 children with PAH deficiency confirmed by neonatal screening were analyzed retrospectively, and the genotype-phenotype prediction model was established. Alleles were assigned, specific values of mutation sites (AV) were set, and the sum of AV scores was calculated to predict the clinical phenotype. Results　Using the second-generation high-throughput sequencing technology and multiplex ligation-dependent probe amplification technology, 146 mutation sites were detected in 152 PAH alleles in 76 neonates and the frequency was 96.1%. Two variant alleles were detected in 70 newborns, including 3 homozygous and 67 compound heterozygous variants. One variant allele was detected in the other 6 newborns. A total of 45 types of variation were detected, and the locus with high frequency of variation was c.728G>A (26/146, 17.8%), c.158G>A (13/146, 8.9%), and c.1068C>A ( 11/146, 7.5%), c.721C>T (10/146, 6.8%), c.1238G>C (8/146, 5.5%), c.331C>T (8/146, 5.5%) and c.1301C>A (7/146, 4.8%). The c.95A>G locus has not been reported by BIOPKU database. There was a significantly negative correlation between serum phenylalanine (Phe) concentration and the sum of AV scores before treatment (r=－0.83, P<0.001). During follow-up, it was found that 2 mild hyperphenylalaninemia children whose blood Phe concentration was less than 120 μmol/ L did not require treatment. Conclusion　Constructing common PAH gene variation spectrum and verifying the correlation between PAH gene mutation and phenotype are conducive to diagnosis and typing of PAH, early prognosis judgment, and genetic counseling.

Effect of ventricular septal defect occluder in the treatment of peculiar shaped patent ductus arteriosus in infants

ZHOU Yunguo, ZHANG Zheng, XU Fei, et al

Journal of Clinical Pediatrics. 2020, 38(9): 679. doi:10.3969/j.issn.1000-3606.2020.09.009

Abstract ( 298 )

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Objectives　To explore the clinical efficacy of ventricular septal defect (VSD) occluder in the treatment of peculiar shaped patent ductus arteriosus (PDA) in infants. Methods　The clinical data in 27 children with window-type PDA or tubular-type PDA (arterial catheter length >7 mm) diagnosed by aortic arch angiography and having interventional treatment of VSD occluder from July 2017 to July 2018 were analyzed. Results　There were 12 window-type PDA patients (7 boys and 5 girls) with a median age of 8.7 months (6 months to 3 years), and 15 tubular-type PDA patients (6 boys and 9 girls) with a median age of 18 months (11 months to 5 years). The window-type PDA was occluded with membranous ventricular septal defect occluder, and the tubular-type PDA was occluded by muscular ventricular septal defect occluder. The waist size of occluder was selected according to the pulmonary artery end diameter plus 3~6 mm for window- type PDA and plus 2~4 mm for tubular-type PDA. All children were successfully occluded, and there was no residual shunt after operation. Chest X-ray examination at 24 hours, 1 month, 3 months, 6 months and 12 months after operation showed that the occluder were in good position. The descending aorta blood flow rate at 24 hours, 1 month, 3 months, 6 months and 12 months after operation was significantly lower than that before operation, and the difference was statistically significant (P<0.05). Compared with preoperative data, postoperative left pulmonary artery flow velocity did not change, and the difference was not statistically significant (P>0.05). Conclusion　VSD occluder is an effective and feasible method for interventional treatment of special shaped PDA.

Splenic abscess in children: a case report and literature review

HAN Fang, ZOU Liping, YANG Guang, et al

Journal of Clinical Pediatrics. 2020, 38(9): 682. doi:10.3969/j.issn.1000-3606.2020.09.010

Abstract ( 359 )

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　Objective　To explore the clinical characteristics and treatment of pediatric sepsis complicated with splenic abscess. Method　The clinical data of sepsis complicated with splenic abscess in a child was retrospectively analyzed. Relevant literature in CNKI, Wanfang Database, and PubMed was retrieved and analyzed. Results　An 11-month-old boy was mainly characterized by recurrent fever. Blood culture showed Enterococcus faecium infection, and the effect of anti-infection treatment was not ideal. Abdominal ultrasonography and magnetic resonance imaging showed multiple splenic abscesses. After ultrasonic-guided fluid extraction of the abscess, the child still had fever and finally underwent splenic abscess resection. One week after surgery, the child's temperature returned to normal. A total of 15 domestic and foreign literatures were returned by the search, and 59 cases of sepsis complicated with splenic abscess in children were found. The main clinical manifestations were fever, cough, abdominal pain or abdominal distension, and 4 cases had underlying diseases. In them, blood culture was positive in 12 cases, in which 4 were positive for cocci and 8 were positive for bacilli. All the 59 cases were received anti-infective treatment, and 2 cases received antituberculosis treatment at the same time. One case underwent splenocentesis and 5 underwent splenectomy. The prognosis of 55 cases was good, 2 cases were improved and 2 cases had relapse. Conclusion　Fever is the main manifestation in sepsis complicated with splenic abscess in children. Some children have underlying diseases, and anti-infection treatment with sufficient quantity and sufficient duration is the main treatment. Splenic abscess resection should be performed when necessary.

Clinical characteristics and gene variation of short-chain acyl-CoA dehydrogenase deficiency

WANG Weiqing, LI Wenjie, SONG Dongpo, et al

Journal of Clinical Pediatrics. 2020, 38(9): 687. doi:10.3969/j.issn.1000-3606.2020.09.011

Abstract ( 665 )

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　Objective　To explore the relationship between genotype and phenotype of neonatal short-chain acyl-CoA dehydrogenase deficiency (SCADD). Method　The clinical data of SCADD in 7 children discovered by screening 296627 newborns in Qingdao from 2015 to 2018 were retrospectively analyzed. Results　During the study period, the number of suspected positive cases at the first screening was 4864, and the positive rate was 0.16%. Seven children were diagnosed with SCADD by genetic testing and the positive rate of diagnosis was 1/42375. Among the 7 children (4 males and 3 females), 5 known mutations including c.1029+89_90insC, c.1031A>G, c.1157G>A, c.164C>T and c.989G>A and 4 unknown mutations including c.1130C>T, c.1186G>A, c.445A>T and c.949A>G were detected by gene testing. Conclusions　SCADD genotype and hematuria tandem mass spectrometry screening results were consistent, but the relationship between genotype and clinical phenotype was not clear. Early diagnosis and treatment can improve the prognosis.

GNAO1 encephalopathy with epilepsy and dyskinesia: a case report and literature review

JIANG Jiao, LI Yang, WANG Dan, et al

Journal of Clinical Pediatrics. 2020, 38(9): 691. doi:10.3969/j.issn.1000-3606.2020.09.012

Abstract ( 415 )

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Objective　To investigate the clinical characteristics and genotypic-phenotypic correlation of G203R variation in GNAO1 gene. Methods　The clinical data of G203R variation in GNAO1 gene in a child was retrospectively analyzed. In addition, "GNAO1G203R" was used as the search term to retrieve and review the literature in CNKI, Wanfang Database and PubMed, etc. Results　A 7-month-old male child presented with recurrent seizures, twist, chorea, mouth opening, rictus and tongue clicking, growth retardation and hypotonia. The G203R mutation of GNAO1 gene was detected by whole exon sequencing. After treatment with the combination of antiepileptic drugs, epilepsy had been controlled in the child, but he still had the repeated twisting, chorea and oral and facial movement. The literature retrieved 6 cases of G203R mutation in GNAO1 gene and they had similar clinical manifestations. Conclusion　The main clinical features of G203R mutation in GNAO1 gene are epileptic encephalopathy, dyskinesia and growth retardation.

Clinical and genetic analysis of congenital disorder of glycosylation type Ie with congenital muscular dystrophy

QI Jing, LU Jun, HE Bo, et al

Journal of Clinical Pediatrics. 2020, 38(9): 695. doi:10.3969/j.issn.1000-3606.2020.09.013

Abstract ( 438 )

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Objective　To explore the clinical manifestations and gene variation of congenital disorders of glycosylation type Ie (CDG-Ie) with congenital muscular dystrophy caused by DMP1 gene mutation. Method　The clinical data and gene detection results of a CDG-Ie combined with congenital muscular dystrophy in a child were retrospectively analyzed. Results　The male child was found to have a small head circumference at the age of 1 month, followed by intelligence and motor retardation, microcephaly, epileptic encephalopathy, reduced muscle strength and muscle tension, bipedal contracture, flat nasal bridge, small jaw, oblique eyes, poor light tracing and other manifestations. He also had elevated serum creatine creatinase. Head MRI showed brain atrophy, diffusely widened extracerebral space, and obviously weak myelination in the brain. Electroencephalogram showed explosive inhibition. The results of gene sequencing showed that there were heterozygous mutations in DPM1 gene, c.669-3C>G and c.677G>T. Family analysis indicated that c.669-3C>G was from the mother and c.677G>T was from the father. The child was diagnosed with CDG-Ie. Conclusion　CDG-Ie is a rare type of CDG, often associated with congenital muscular dystrophy. Early gene detection is helpful for the diagnosis.

Clinical features and genetic analysis of SGCE myoclonic-dystonia in 1 case with the age of onset at 1.5 years old

MOU Changhua, WANG Jiwen, ZHOU Yunqing, et al

Journal of Clinical Pediatrics. 2020, 38(9): 700. doi:10.3969/j.issn.1000-3606.2020.09.014

Abstract ( 363 )

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Objective　To explore the clinical and genetic characteristics of myoclonic-dystonia syndrome (MDS) caused by SGCE gene mutation. Method　The clinical data of myoclonic-dystonia in a child was retrospectively analyzed and the related literature was reviewed. Results　A 3-year-old boy had onset at 1.5 years old. The main clinical manifestations were paroxysmal limb twitch, walking instability, posture disorder and dyskinesia, and there were no abnormalities in intelligence, language and emotion. Repeated cranial magnetic resonance imaging, electroencephalogram and hematuria metabolism screening showed no abnormality. A splicing mutation of c.1037+1G>A in SGCE gene was found by whole exon sequencing. It’s a new mutation and had not been reported at home and abroad. The diagnosis of SGCE myoclonic-dystonia was confirmed, and the treatment with zonisamide was effective. Conclusion　The newly discovered c.1037+1G>A mutation of the SGCE gene can cause myoclonus-dystonia, and zonisamide is the first choice.

Coffin-Siris syndrome: a case report

FANG Danfeng, YE Bin, YU Yongguo, et al

Journal of Clinical Pediatrics. 2020, 38(9): 704. doi:10.3969/j.issn.1000-3606.2020.09.015

Abstract ( 1268 )

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Objective　To explore the clinical phenotype and gene abnormality of Coffin-Siris syndrome. Method　The clinical data of Coffin-Siris syndrome in a child diagnosed by high-throughput sequencing technology were retrospectively analyzed, and the related literature was reviewed. Results　A male child had feeding difficulties, growth retardation and special facial features after birth. Gene detection showed a mutation of c.6683C>A (p.Ser2228*) in ARID1B gene, , which was a de novo mutation and predicted to be pathogenic. Conclusion　Coffin-Siris syndrome is a rare genetic disease and is difficult to diagnose in early stage, and genetic testing helps the diagnosis.

Cytogenetic and molecular genetic study of duplication deletion of 8p in a new case

LIU Furong, HAO Shengju, ZHANG Chuan, et al

Journal of Clinical Pediatrics. 2020, 38(9): 707. doi:10.3969/j.issn.1000-3606.2020.09.016

Abstract ( 627 )

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　Objective　To explore the clinical and cytogenetic characteristics of 8p inverted duplication deletion [inv dup del (8p)] syndrome. Method　The clinical data and cytomolecular genetic analysis data of a child with inv dup del (8p) syndrome were retrospectively analyzed. Results　A 6-month-old girl had clinical manifestations of developmental delay, special facial features, congenital heart disease, and laryngomalacia. Chromosome karyotype analysis of peripheral blood lymphocytes showed that the child was 46, XX, der (8) inv dup (8) (p21), del (8) (p23), and there was no abnormality in her parents. Copy number analysis (CNV) of high-throughput sequencing genome was used to accurately locate the chromosomal regions with abnormal copy number changes. The CNV detection showed the deletion of 6.96 Mb in 8p23.3-p23.1 (160001-7120000) region and the duplication of 15.38 MB in 8p23.1-p21.1 (12560001-27940000) region. Real-time PCR verification of CNV showed a 5.4 Mb normal copy number fragment between the duplicate and deleted fragments. Based on the combination of clinical manifestations and various test results, the child was diagnosed with inv dup del (8p) syndrome. Conclusion　Clinical features, karyotype analysis of peripheral blood, CNV and fluorescent quantitative PCR technology in combination can effectively diagnose inv dup del (8p) syndrome.

Research progress on adverse reactions of phototherapy for neonatal hyperbilirubinemia

FENG Xiao

Journal of Clinical Pediatrics. 2020, 38(9): 711. doi:10.3969/j.issn.1000-3606.2020.09.017

Abstract ( 329 )

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　As an effective treatment of neonatal hyperbilirubinemia, phototherapy has been widely applied in clinic. Recent studies have shown that neonatal phototherapy can increase the mortality of extremely low birth weight infants through such mechanisms as oxidative stress and DNA damage, and is related to childhood tumors, melanoma, allergic diseases and epilepsy. Therefore, it is necessary to further explore and optimize the light source devices and change the phototherapy approaches, etc., to reduce the adverse reactions of phototherapy. This article reviews the research progress of the adverse reactions of neonatal hyperbilirubinemia phototherapy.

Oral immunotherapy for cow’s milk protein allergy in children

FENG Yan, HUANG Ying

Journal of Clinical Pediatrics. 2020, 38(9): 716. doi:10.3969/j.issn.1000-3606.2020.09.018

Abstract ( 281 )

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Cow’s milk protein allergy is a common type of food allergy in children. 90% of children with milk protein allergy can achieve spontaneous tolerance within 3 years of age, with a good prognosis. But milk protein allergy persists in a small number of children. As a result of accidental exposure to milk or dairy products, the children have repeated allergic reactions and even life-threatening situations, affecting the growth of children and mental health. In addition to milk protein avoidance and alternative formula feeding, oral immunotherapy has been clinically proven to be effective in helping desensitization. However, there is no standard treatment regimen, and its safety and long-term efficacy limit its clinical application. This article reviews the process, mechanism, optimization scheme and related contents of oral immunotherapy of milk protein

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