Journal of Clinical Pediatrics

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Journal of Clinical Pediatrics. 2021, 39(4): 240. doi:10.3969/j.issn.1000-3606.2021.04.000

Abstract ( 165 )

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Clinical characteristics and prognosis of hypertrophic cardiomyopathy with left ventricular enlargement in children

MIAO Wenhua, LIU Xiaoyan

Journal of Clinical Pediatrics. 2021, 39(4): 241. doi:10.3969/j.issn.1000-3606.2021.04.001

Abstract ( 453 )

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Objective To explore the clinical characteristics and prognosis of hypertrophic cardiomyopathy (HCM) with left ventricular enlargement in children. Methods The clinical data of HCM children hospitalized from July 2008 to March 2020 were retrospectively analyzed, and the followed-up was conducted until April 2020 . According to the Z value of left ventricular end diastolic diameter (LVEDD) measured by initial hospitalization echocardiography, the patients were divided into left ventricular enlargement group (LVEDD-Z> 2 ) and control group (LVEDD-Z≤ 2 ), and the clinical characteristics and prognosis between the two groups were compared. Results Sixty-one children were enrolled, including 14 patients (10 boys and 4 girls) in the left ventricular enlargement group with a median age of 5 months (ranging from 2 to 110 months) at diagnosis. In the control group, 47 patients (30 boys and 17 girls) had a median age of 6 months (ranging from 9 days to 14 years) at diagnosis. The proportions of heart failure, heart function class Ⅲ and Ⅳ and atrial premature beat were higher in the left ventricular enlargement group than those in the control group, and the differences were statistically significant (P< 55 % and diastolic function decline in the left ventricular enlargement group were higher than those in the control group, and the differences were statistically significant (P< 0 . 05 ). Five children in left ventricular enlargement group underwent genetic testing, and 3 children were tested positive to have MYH 7 with TTN gene mutation, MYH 7 gene mutation and glycogen storage disease type II respectively. Twelve patients in the left ventricular enlargement group were followed up and median follow-up time was 13 . 5 months. Five patients died, 4 of them died within 1 year after diagnosis, and all died of worsening heart failure. Conclusions The proportion of HCM in children with left ventricular enlargement is not low, which may be caused by mixed cardiomyopathy or heart failure, or may be related to metabolic cardiomyopathy, polygenic variation or gene expression heterogeneity.

Clinical analysis of radiofrequency catheter ablation guided by Carto 3 in the treatment of ventricular premature beats in children

XU Meng, LI Yun, XIAO Tingting, et al

Journal of Clinical Pediatrics. 2021, 39(4): 247. doi:10.3969/j.issn.1000-3606.2021.04.002

Abstract ( 312 )

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Objective To explore the clinical effect of radiofrequency catheter ablation (RFCA) guided by Carto 3 for ventricular premature beats (VPBs) and the changes of autonomic nerve function before and after RFCA of the right ventricular outflow tract in children. Methods The clinical data of 42 children with frequent VPBs admitted from January 2015 to December 2019 were retrospectively analyzed. The heart rate variability (HRV) and deceleration capacity of rate (DC) of children with VPBs originated from the right ventricular outflow tract (RVOT) before and 3 months after operation were compared. Results There were 23 cases of VPBs originated from the RVOT, 5 cases from tricuspid annulus, 4 cases from right ventricular free wall, 4 cases from left ventricular outflow tract, 2 cases from mitral annulus and 2 cases from left posterior branch. Among them, 2 cases had delayed postoperative healing, 1 case recurred. The other 2 cases failed. The surgical success rate was 92 . 9 % ( 39 / 42 ), and there were no surgical complications. The 24 -hour dynamic ECG HRV index before and 3 months after RFCA of the right outflow tract in 23 children with VPBs showed that the time domain index, namely the standard deviation of normal R-R intervals (SDNN), was higher than that before RFCA, and the difference was statistically significant (P< 0 . 05 ). The frequency index, namely high frequency power (HF), was higher after RFCA than before, and the ratio of high and low frequency power (LF/ HF) was lower after RFCA than before, and the differences were statistically significant (P< 0 . 05 ). The DC value after RFCA was higher than that before RFCA, and the difference was statistically significant (P< 0 . 05 ). Conclusions The RFCA guided by Carto 3 is safe and effective in the treatment of VPBs in children. The children with VPBs originated from right ventricular outflow tract show impaired autonomic nerve function, mainly weakened vagus nerve tone.

Infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency- 4 caused by a novel mutation of COA6 gene: a case report and literature review

CUI Qingyang, SHANG Yun, CAO Yinli, et al

Journal of Clinical Pediatrics. 2021, 39(4): 251. doi:10.3969/j.issn.1000-3606.2021.04.003

Abstract ( 405 )

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Objective To explore the clinical phenotype and genotype of infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency-4 (CEMCOX4). Methods The clinical data of an infantile CEMCOX 4 was analyzed retrospectively and the related literature was reviewed. Results The 5 -day-old female infant presented with dyspnea immediately after birth. Repeated blood gas analysis showed an increase in lactic acid. Cardiac color Doppler ultrasonography showed hypertrophic cardiomyopathy with bilateral ventricular outflow tract obstruction. A homozygous mutation of c. 411 _ 412 insAAAG in COA 6 gene was detected by whole exon sequencing and the mutation resulted in the change of amino acid synthesis starting from the 140 th lysine and ending at subsequent 4 th amino acid after the change (p.Lys140 ArgfsTer 4 ). It may seriously affect the protein function. Family pedigree verification showed that both parents carried the c. 411 _ 412 insAAAG heterozygous variation. This mutation has not been reported. Literature review showed that infantile CEMCOX 4 usually presented with lactic acidosis, hypotonia and hypertrophic cardiomyopathy, and the prognosis of homozygous variation is worse than that of compound heterozygous variation. Conclusions One case of infant CEMCOX 4 was reported. A new mutation in COA 6 gene was discovered, which expanded the COA 6 gene mutation spectrum.

Difference analysis of lymphocyte subsets and cerebrospinal luid protein in Guillain-Barré syndrome in children

ZHOU Junling, LI Weiqin, ZHANG Liya

Journal of Clinical Pediatrics. 2021, 39(4): 256. doi:10.3969/j.issn.1000-3606.2021.04.004

Abstract ( 297 )

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Objective To investigate the significance of peripheral blood lymphocyte subsets and cerebrospinal fluid protein in evaluating the early stage of acute Guillain-Barré syndrome (GBS) in children. Methods The clinical data of 60 hospitalized children diagnosed with GBS from November 2011 to March 2020 were retrospectively analyzed. The children were divided into mild group and severe group according to the condition at admission and Hughes scale. The age, gender, presence of pre-infection, peripheral blood lymphocyte subsets, and cerebrospinal fluid protein levels between the two groups were compared. Multivariate logistic regression was used to analyze the risk factors of severe GBS. Results Among the 60 children (33 boys and 27 girls, median age=5.30 years), 33 (55%) had severe GBS. Compared with the mild group, the levels of CD3+ in peripheral blood of the severe group were lower, while the levels of CD3- CD19+ and total protein/microalbumin in cerebrospinal fluid were higher, and the differences were statistically significant (P< 0 . 05 ). Multivariate logistic regression analysis showed that the total protein/microalbumin levels in cerebrospinal fluid was a risk factor for severe GBS (P< 0 . 05 ). Conclusions There are disorders of lymphocyte subsets in both mild and severe GBS in the acute stage. Monitoring the levels and classification of cerebrospinal fluid protein in the acute phase of GBS helps assess the severity of the children’s condition.

Significance of early monitoring of cerebral oxygen saturation and cerebral blood flow parameters in the prognosis of septic shock in children

GAO Liujiong, LI Xiaolei, NING Wenhui, et al

Journal of Clinical Pediatrics. 2021, 39(4): 260. doi:10.3969/j.issn.1000-3606.2021.04.005

Abstract ( 485 )

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Objective To explore the value of cerebral oxygen saturation (rScO2 ) and cerebral blood flow parameters including oxygenated hemoglobin concentration (ΔO2Hb), reduced hemoglobin concentration change (ΔHHb) and hemoglobin concentration index (THI) in indicating the prognosis of septic shock in children. Methods A total of 50 children with septic shock admitted from October 2017 to October 2019 were selected. Hemodynamic parameters including mean arterial pressure (MAP), central venous pressure (CVP), central venous oxygen saturation (ScvO2 ) and blood lactic acid were monitored immediately after admission to the intensive care unit (ICU). Cerebral oxygen parameters including rScO2 , ΔO2Hb, ΔHHb and THI were also monitored. According to the prognosis at 28 days after admission to ICU, the children were divided into survival group and death group. Cerebral blood oxygen and hemodynamic parameters of the two groups were analyzed. Results In 50 children ( 31 boys and 19 girls) at median age of 4 years with septic shock, there were 30 children in the survival group and 20 children in the death group. Acute Physiology And Chronic Health Evaluations (APACHE) Ⅱ score and Sepsis-related Organ Failure Assessment (SOFA) score in death group were significantly higher than those in survival group, and the differences were statistically significant (P< 0 . 05 ). The levels of MAP, CVP and ScvO2 in the death group were significantly lower than those in the survival group after 6 hours of initial resuscitation, and the differences were statistically significant (P the death group was statistically significant (P< 0 . 05 ), and all indexes showed an upward trend. After the initial resuscitation treatment, the rScO2 and THI of the survival group increased rapidly over time, which were significantly higher than those in the death group (P< 0 . 05 ). After 6 hours of treatment, rScO2 and ΔO2Hb were positively correlated with ScvO2 (P< 0 . 05 ), while THI was negatively correlated with blood lactic acid level (P< 0 . 05 ). The AUC of rScO2 , ΔO2Hb, ΔHHb and THI in predicting the prognosis of septic shock in children were 0 . 765 , 0 . 642 , 0 . 608 and 0 . 718 , respectively. Conclusions The early cerebral blood oxygen parameters (rScO2 , ΔO2Hb, ΔHHb and THI) monitored by near infrared reflectance spectroscopy have certain diagnostic values for the prognosis of children with septic shock.

The relationship between clinical phenotype and chest imaging in community-acquired pneumonia with MP 23S rRNA A2063G gene mutation in children

YU Cong, LYU Wei, ZHANG Xiaoying

Journal of Clinical Pediatrics. 2021, 39(4): 265. doi:10.3969/j.issn.1000-3606.2021.04.006

Abstract ( 260 )

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Objective To explore the relationship between the clinical phenotype and chest imaging of communityacquired pneumonia (CAP) with the mutation of Mycoplasma pneumoniae (MP) 23 S rRNA A 2063 G gene. Methods A total of 142 children with CAP hospitalized from March 2019 to March 2020 were selected as the research objects. The chest imaging examinations were scored by the pneumonia chest radiograph absorption evaluation scale. At the same time, the blood routine, CRP, MPIgG, MPIgM, MP polymerase chain reaction of throat swab and other laboratory tests were performed. The children were divided into MPP group and non-MPP group (N-MPP) according to the pathogen results. For MP-PCR positive children, the 23 S rRNA A 2063 G site was further detected. The children were divided into the variant group (G-MPP) and the non-variant group (A-MPP) according to whether there is A2063G mutation, and the differences in clinical phenotypes between the two groups were compared. Results In a total of 142 children included, there were 78 males and 64 females with a median age of 5 years (range from one month to 14 years). The age difference between MPP group and N-MPP group was statistically significant (P< 0 . 05 ). Twenty-seven patients in the MPP group had 23 S rRNA A 2063 G mutation and a variation rate was 30 . 34 %. Compared with A-MPP group, G-MPP group had longer fever duration, longer hospital stay, higher incidence of hypoxemia, and higher chest imaging scores in children with hypoxemia, and the differences were statistically significant (all P< 0 . 05 ). Conclusions The children with G-MPP had long fever duration, a longer hospital stay, a higher incidence of hypoxemia, and a higher chest imaging score in children with hypoxemia. However, chest imaging scores may not be used to indicate whether drug-resistant MP infection happens.

Intractable epilepsy caused by mutation of CACNA1E gene: a case report

LI Jieling, CAO Jie

Journal of Clinical Pediatrics. 2021, 39(4): 269. doi:10.3969/j.issn.1000-3606.2021.04.007

Abstract ( 946 )

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Objective To explore the clinical features of intractable epilepsy caused by CACNA1E gene mutation. Method The clinical data of intractable epilepsy caused by CACNA1 E gene mutation in a child were retrospectively analyzed. Results A boy, aged 1 year and 6 months, was brought to the clinic due to intractable epilepsy with mental and motor retardation. He had hypotonia and severe epileptic encephalopathy performance. Genetic testing found that the child carried a new heterozygous mutation of c. 4258 (exon 30 ) G>A (NM_ 001205293 ) in CACNA 1 E gene, and both his parents were wildtype at this locus. The variant was classified as likely pathogenic according to the ACMG (The American College of Medical Genetics and Genomics) criteria ( 2015 ). Conclusion For children with intractable epilepsy accompanied by mental retardation and hypotonia, genetic testing should be performed as soon as possible to make a clear diagnosis.

Leigh disease caused by the mutation of NADH dehydrogenase 1 gene: a case report and literature review

ZHAO Dongjing , TANG Jihong , LIU Ying, et al

Journal of Clinical Pediatrics. 2021, 39(4): 273. doi:10.3969/j.issn.1000-3606.2021.04.008

Abstract ( 378 )

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Objective To explore the clinical features of Leigh disease caused by the mutation of m. 3688 G>A in NADH dehydrogenase 1 (ND 1) gene. Methods The clinical data of a child with Leigh disease caused by the mutation of m. 3688 G>A in ND1 gene were analyzed retrospectively. Results A 1 -year- and 3 -month-old boy presented with apathy as the first symptom, accompanied by psychomotor development retardation. Head MRI showed multiple abnormal signal shadows in the bilateral basal ganglia, thalamus, cerebral peduncle and cerebral cortex, and the lesions were roughly symmetrically distributed. An unexplained mitochondrial base mutation of m. 3688 G>A was found in ND 1 by gene test. Combined with clinical features and literature review, the child was diagnosed with Leigh disease with a new genetic variant. Through literature review, it was found that the number of mtDNA variants was a key factor in determining the clinical phenotype. Conclusion Mitochondrial gene detection technology is an important means to diagnose mitochondrial diseases.

Clinical and genetic analysis of Imerslund-Gräsbeck syndrome caused by compound heterozygous variation of AMN gene: a case report

LI Guangxu, PAN Xiang, LU Jun, et al

Journal of Clinical Pediatrics. 2021, 39(4): 276. doi:10.3969/j.issn.1000-3606.2021.04.009

Abstract ( 281 )

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Objective To explore the clinical and gene variation characteristics of Imerslund-Gr?sbeck syndrome (IGS) caused by compound heterozygous variation of AMN gene. Methods The clinical data of IGS caused by compound heterozygous mutation of AMN gene in one child were analyzed retrospectively, and the relevant literature was reviewed. Results A ten-yearold boy mainly presented with pale complexion and pallid lips. The hemoglobin of the child was 84 g/L, the red blood cell count was 2 . 44 × 1012 /L, the mean red blood cell volume was 96 . 30 fL, and the mean hemoglobin content was 34 . 4 pg. The blood vitamin B12 concentration was 83 pg/mL. Blood tandem mass spectrometry and urine organic acid analysis suggested methylmalonic acidemia. Pathogenic variants of genes associated with primary methylmalonic acidemia were excluded by genetic screening. Whole exome sequencing revealed that there were compound heterozygous mutations of c.527_530del and c.651+1G>C in AMN gene, and c.651+1G>c was a new variation. The above mutation sites have not been reported. According to the American College of Medical Genetics and Genomics (ACMG) classification, c.527_530del was a likely pathogenic variation, and c.651+1G> c was a pathogenic variation. Combined with the clinical phenotype, IGS was confirmed. The symptoms of methylmalonic acidemia and anemia disappeared after vitamin B12 intramuscular injection. Conclusions Blood tandem mass spectrometry and urine organic acid analysis combined with gene detection, especially total exon sequencing, can improve the diagnostic level of rare genetic metabolic diseases.

Clinical manifestation and genetic analysis of aromatic L-amino acid decarboxylase deficiency in a family

CAI Huiqiang, HU Shuxiang, CAI Shuying, et al

Journal of Clinical Pediatrics. 2021, 39(4): 279. doi:10.3969/j.issn.1000-3606.2021.04.010

Abstract ( 430 )

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Objective To explore the clinical phenotypic and genetic characteristics of aromatic L-amino acid decarboxylase deficiency (AADCD). Methods The clinical data of one family with AADCD were retrospectively analyzed, and the relevant literature was reviewed. Results The two siblings in the family all had onset at 3 months of age, and the main manifestations were eye movement crisis, developmental retardation, hypotension and hyperhidrosis. A compound heterozygous variants of c. 714 + 4 (IVS 6 ) A>T and c. 1234 (exon 13 ) C>T in DDC gene were detected by whole exon sequencing, and the former originated from father and the latter originated from mother. Conclusion The clinical phenotype of AADCD with compound heterozygous variants of c.714 + 4 (IVS 6 ) A>T and c.1234 (exon 13 ) C>T in DDC gene is often severe and has early onset.

Acute disseminated encephalomyelitis with anti-contactin-associated protein-like 2 antibody associated autoimmune encephalitis: a case report

XU Min , TANG Jihong , ZHANG Bingbing, et al

Journal of Clinical Pediatrics. 2021, 39(4): 283. doi:10.3969/j.issn.1000-3606.2021.04.011

Abstract ( 405 )

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Objective To explore the clinical characteristics of acute disseminated encephalomyelitis (ADEM) with anti-contactin-associated protein-like 2 (Caspr 2 ) antibody associated autoimmune encephalitis. Methods The clinical data of ADEM complicated with anti-Caspr 2 antibody associated autoimmune encephalitis in a child were analyzed retrospectively. Results A 7 -year- and 10 -month-old girl was admitted to hospital due to fever and mental distress. During the course of the disease, she developed clinical symptoms including seizures, lethargy, coma, cognitive impairment, mental personality changes, insomnia, and neuropathic pain and so on. Cranial magnetic resonance imaging (MRI) showed patchy-like high-signal shadows in bilateral cerebral hemispheres with T 2 WI and FLAIR sequences. On the 4 th day of the disease course, the cerebrospinal fluid Caspr 2 antibody was negative, and the cerebrospinal fluid Caspr 2 antibody turned positive on the 21 st day of the disease course, and ADEM complicated with anti-Caspr 2 antibody associated autoimmune encephalitis was diagnosed. The clinical symptoms and cranial MRI of the children recovered well after the treatment with glucocorticoid and immunoglobulin plus plasmapheresis. Conclusions ADEM complicated with anti-Caspr 2 antibody associated autoimmune encephalitis is rare. Prompt completion of blood and cerebrospinal fluid autoimmune encephalitis-related antibody examinations, head MRI and other related auxiliary examinations are conducive to timely diagnosis and treatment and improvement of prognosis.

Congenital hypothyroidism with elevated thyroglobulin: a case report and literature review

WANG Libiao, LIU Yuhui, XIANG Hengjie, et al

Journal of Clinical Pediatrics. 2021, 39(4): 287. doi:10.3969/j.issn.1000-3606.2021.04.012

Abstract ( 322 )

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Objective To investigate the clinical characteristics and TG gene variation characteristics of congenital hypothyroidism (CH) families with increased thyroglobulin (TG). Methods The clinical data and TG gene test results of a CH family with elevated TG were retrospectively analyzed and relevant domestic and foreign literature was reviewed. Results The proband, a 45 -day-old girl, suffered from delayed resolution of jaundice and constipation. The thyroid function test indicated CH, and the level of TG was increased. The genetic results showed compound heterozygous mutations of c.2149 C>T and c.5401+113 A>G in the TG gene of the children. Sanger sequencing confirmed that c. 2149 C>T was from father and c. 5401 + 113 A>G was from mother, and a heterozygous mutation of c. 5401 + 113 A>G was carried by his elder brother. The phenotypes of his elder brother and parents were normal. The mutations of c. 2149 C>T and c. 5401 + 113 A>G have not been reported in the literature, and these two variants were classified as likely pathogenic and unknown clinical significance according to the American genetic variation classification standards and guidelines. Conclusions It was confirmed that TG gene mutations caused an increase in TG levels in CH patients, and two new TG gene mutation sites were found.

Clinical manifestation and gene mutation analysis of non-autoimmune hyperthyroidism in a child

YUAN Xuewen, CHU Shanshan, GU Wei, et al

Journal of Clinical Pediatrics. 2021, 39(4): 291. doi:10.3969/j.issn.1000-3606.2021.04.013

Abstract ( 281 )

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Objective To explore the clinical manifestations and genetic characteristics of non-autoimmune hyperthyroidism. Methods The clinical data and gene sequencing results of non-autoimmune hyperthyroidism in a child were retrospectively analyzed. Results A 9 -month-old boy had a rapid heart rate as the main manifestation, combined with general developmental retardation and congenital heart disease, etc. Laboratory tests showed that the level of thyroid stimulating hormone was decreased, the levels of free triiodothyronine and free thyroxine were increased, and all related antibody tests were negative. The missense mutation of c. 1894 A>G (p.T 632 A) in exon 10 of TSHR gene was found by gene detection. It was a new mutation and had not been reported. It was predicted to be pathogenic by software. After oral treatment with methimazole, thyroid function was significantly improved and developmental retardation was improved. Conclusion Gene detection is beneficial to the diagnosis of non-autoimmune hyperthyroidism

Coffin-Siris syndrome caused by ARID1B mutation: a case report and literature review

XU Xin, TANG Jian, ZHANG Li, et al

Journal of Clinical Pediatrics. 2021, 39(4): 294. doi:10.3969/j.issn.1000-3606.2021.04.014

Abstract ( 1182 )

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Objective To explore the clinical and gene characteristics of Coffin-Siris syndrome caused by ARID 1 B mutation. Methods The clinical data and molecular genetic test results of Coffin-Siris syndrome caused by ARID 1 B gene mutation in a child were retrospectively analyzed, and the relevant literature was reviewed. Results A 2 -year- and 8 -month-old was brought to clinic for psychomotor retardation. He had difficulties in feeding and poor weight gain after birth. He presented a distinctive facial appearance including sparse scalp hair, low frontal hairline, arched shaggy eyebrows, long eyelashes, broad nasal tip, flat nasal bridge, thin upper lip, a thick and everted lower lip and thick lip hair. He had hypotonia and small toenails in right foot. A heterozygous missense mutation of c. 6257 T>C (p.Leu 2086 Pro) in ARID 1 B gene was found in the child by whole exome sequencing, which was not found in his parents and was a new variant. A total of 86 reported cases of Coffin-Siris syndrome caused by ARID1 B gene mutation were retrieved through literature search. The clinical characteristics of the patients were basically consistent with the reported cases. Conclusion Coffin-Siris syndrome is a rare autosomal dominant genetic disease that can involve multiple systems, and genetic testing can help diagnose.

Rapidly progressive puberty in a girl with Williams syndrome and follow-up for GnRHa treatment

JIANG Lihong, BAO Pengli, ZHENG Rongxiu, et al

Journal of Clinical Pediatrics. 2021, 39(4): 298. doi:10.3969/j.issn.1000-3606.2021.04.015

Abstract ( 1085 )

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Objective To explore the treatment of precocious puberty in girls with Williams syndrome (WBS). Methods The clinical data of rapidly progressive puberty in a girl with WBS were retrospectively analyzed, and the relevant literature was reviewed. Results A 9 years and 5 months old girl was brought to clinic due to breast development for more than one year and menstruation for three times. According to the special facial features, supraaortic stenosis, mental retardation, precocious puberty and medical exon sequencing results, the diagnosis of WBS was confirmed. The child met the diagnostic criteria of rapidly progressive puberty because the bone age of the child was 2 years older than her chronologic age, the uterine length was 37 mm, the endometrium was 5 mm, the bilateral ovaries had several follicles larger than 4 mm, the ovarian volume was 3 - 4 mL, the random level of luteinizing hormone (LH) was 3 . 43 mIU/mL, and the bone age height SDS was - 1 . 92 , and was treated with GnRHa. Reexamination after 1 year of treatment showed that the child’s sex hormones were at prepubertal level, the annual height growth rate was 5 . 3 cm, and the height SDS of bone age was - 1 . 55 . Conclusions Children with WBS may have precocious puberty (rapidly progressive puberty). The application of GnRHa intervention can improve the adult height in children with WBS and relieve the anxiety of parents.

Infantile neuroaxonal dystrophy and PLA2G6 gene mutation analysis: a case report

TONG Pei, LIU Yan

Journal of Clinical Pediatrics. 2021, 39(4): 301. doi:10.3969/j.issn.1000-3606.2021.04.016

Abstract ( 526 )

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Objective To explore the clinical characteristics of infantile neuroaxonal dystrophy (INAD) and the feature of PLA2 G 6 gene mutation. Method The clinical data of an child with INAD confirmed by gene detection were retrospectively analyzed. Results The patient was a 2 year old female with an onset age of 1 year and 7 months. The clinical manifestations were psychomotor regression, hypotonia and positive pathological signs. Head MRI showed bilateral cerebellar atrophy. Electromyography and 2 h video electroencephalogram showed no abnormality. Genetic testing showed two mutations of c. 150 _ 153 del and c. 799 T>C in PLA 2 G 6 gene, which were inherited from mother and father, respectively. These were complex heterozygous variants, none of which have been detected in the normal population. The mutation of c.150 _ 153 del resulted in a change in the synthesis of amino acids starting from threonine 51 and terminating at the 30 th amino acid after the change (P.P. 51 thrfs * 30 ), which is a frameshift mutation. The mutation of c.799 T>C resulted in the change of 267 th amino acid from cysteine to arginine (p.Cys 267 Arg), which was a missense mutation. Poly-Phen 2 predicted that the mutations mentioned above could affect the protein function. Conclusion The second generation sequencing technology can accurately detect the mutation of PLA 2 G 6 gene. This study expanded the gene mutation spectrum of INAD patients in China.

Research progress of extrauterine growth restriction in premature infants

MENG Hanyan

Journal of Clinical Pediatrics. 2021, 39(4): 304. doi:10.3969/j.issn.1000-3606.2021.04.017

Abstract ( 373 )

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With the development of perinatal medicine and the establishment of the neonatal intensive care unit, the birth rate and survival rate of premature infants have increased significantly. However, because premature infants are susceptible to various premature related diseases due to their immature tissues and organs, in addition to possible issues such as insufficient energy and nutrition intake, the incidence of extrauterine growth restriction in premature babies is high. Extrauterine growth restriction is not only closely related to the growth and development of premature infants and the outcome of the disease, but also leads to long-term adverse outcomes such as dysplasia of the nervous system and metabolic syndrome in adulthood. This article reviews the research progress of extrauterine growth restriction in premature infants.

Research progress of diagnostic criteria for bronchopulmonary dysplasia

LI Ruiwen

Journal of Clinical Pediatrics. 2021, 39(4): 308. doi:10.3969/j.issn.1000-3606.2021.04.018

Abstract ( 429 )

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Bronchopulmonary dysplasia (BPD) is a common respiratory disease in premature infants, especially in very preterm infants and extremely preterm infants. The incidence has been increasing year by year in trend, and it was accompanied by a variety of complications and its long-term prognosis is poor. The diagnostic criteria of BPD are the basis of its clinical research, diagnosis and treatment. This paper firstly summarizes the changes in diagnostic criteria for BPD since 1960 s, and then analyzes and compares the development of diagnostic criteria and grading criteria for BPD since the beginning of 21 st century. These criteria include the National Institute for Children and Human Development (NICHD) 2001 Consensus and the new revised standards in 2018 and 2019 which are derived from the 2001 Consensus. Finally, the advantages and disadvantages of each are discussed. In this paper, the development of diagnostic criteria for BPD is reviewed in order to provide a basis for the establishment of diagnostic criteria for BPD in accordance with clinical practice in China.

Research progress in human milk active ingredient-osteopontin

ZHU Jing

Journal of Clinical Pediatrics. 2021, 39(4): 313. doi:10.3969/j.issn.1000-3606.2021.04.019

Abstract ( 602 )

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Osteopontin (OPN) is a highly phosphorylated acidic protein with O-glycosylation modification and has attracted much attention in recent years. According to the distribution of OPN in the body, it can be divided into secreted OPN and intracellular OPN. It can be synthesized or secreted by a variety of tissues and cells in the body, and widely exists in bone, kidney, brain, muscle and other tissues and cells. Recent studies have found that secretory OPN is high in breast milk, especially in colostrum, and that secretory OPN plays an important role in intestinal growth, immune regulation and nervous system development in early life. This article reviews the research progress in the effects of OPN in milk on early life growth and health.

Analysis of current status in prenatal evaluation of tetralogy of Fallot by echocardiography

ZHANG Bingyao, WU Yurong

Journal of Clinical Pediatrics. 2021, 39(4): 317. doi:10.3969/j.issn.1000-3606.2021.04.020

Abstract ( 275 )

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Tetralogy of Fallot is the most common cyanotic congenital heart disease. With the improvement of prenatal screening technology, the rate of prenatal diagnosis has increased significantly, and the demand for prenatal assessment of tetralogy of Fallot has also increased day by day. Echocardiography can evaluate the degree of cardiac malformation in fetuses with tetralogy of Fallot. It has unique advantages and value in prenatal evaluation and is an important means for prenatal evaluation of tetralogy of Fallot. This article reviews the application and progress of echocardiography in fetal assessment of tetralogy of Fallot.

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