CJCP
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2021 Vol.  23 No.  1
Published: 2021-01-15

STANDARD·PROTOCOL·GUIDELINE
CLINICAL RESEARCH
CASE ANALYSIS
EXPERIMENTAL RESEARCH
STANDARD·PROTOCOL·GUIDELINE
1 Evidence-Based Medicine Group, Neonatologist Society, Chinese Medical Doctor Association
Clinical guidelines for the diagnosis and treatment of neonatal necrotizing enterocolitis (2020) Hot!

Necrotizing enterocolitis (NEC) is a devastating gastrointestinal disease of neonates, especially of preterm infants, with high morbidity and mortality. The surviving infants may have digestive tract and neurological sequelae. Therefore, the prevention and treatment of NEC are of great significance in improving survival rate and survival quality of neonates. To provide evidence-based recommendations for management of NEC, the guidelines were developed based on the Grading of Recommendations Assessment, Development and Evaluation (GRADE) and the current domestic and overseas studies.

2021 Vol. 23 (1): 1-11 [Abstract] ( 9032 ) [HTML 1KB] [PDF 1257KB] ( 2447 )
12 LI Lei, ZHANG Zhi-Quan, ZHENG Cheng-Zhong, SHI Yuan, Pediatric Disaster Branch of Chinese Pediatric Society of Chinese Medical Association, Pediatric Branch of Chinese People's Liberation Army
Expert consensus on the prevention and treatment of drowning in children

Drowning is a leading cause of accidental injury in children and has a great impact on family and society. The prevention and treatment of drowning is of great importance for reducing mortality rate. This consensus reviews the literature on the epidemiology, rescue, resuscitation, and acute clinical management and prevention of drowning. The panel determines the score of available evidence according to the criteria of Oxford Centre for Evidence-Based Medicine and then makes recommendations on evidence based on such criteria, so as to provide a basis for further reducing the mortality and disability rates caused by drowning.

2021 Vol. 23 (1): 12-17 [Abstract] ( 2634 ) [HTML 1KB] [PDF 1121KB] ( 1079 )
CLINICAL RESEARCH
18 HE Ming-Yuan, LIN Yu-Cong, WU Lin-Lin, SHEN Wei, TANG Li-Xia, ZHU Yao, HUANG Jing, LIN Xin-Zhu
Safety of two ventilator weaning strategies after high-frequency oscillatory ventilation in preterm infants with respiratory distress syndrome: a prospective randomized controlled trial

Objective To study the safety of two ventilator weaning strategies after high-frequency oscillatory ventilation (HFOV) for the treatment of neonatal respiratory distress syndrome (NRDS) in preterm infants. Methods A prospective randomized controlled trial was conducted for 101 preterm infants with NRDS, with a gestational age of ≤32+6 weeks or a birth weight of ≤1 500 g, who were admitted to the neonatal intensive care unit of Xiamen Maternal and Child Health Hospital from January 1, 2019 to June 30, 2020. The infants underwent HFOV as the preferred treatment. The infants were randomly divided into an observation group (50 infants with direct weaning from HFOV) and a control group (51 infants with weaning after HFOV was switched to conventional mechanical ventilation). The two groups were compared in terms of failure rate of ventilator weaning within 72 hours, changes in blood gas parameters at 2 hours before weaning and at 2 and 24 hours after weaning, respiratory support therapy, incidence rates of complications, and outcome at discharge. Results There was no significant difference in the failure rate of ventilator weaning within 72 hours (8% vs 14%, P > 0.05). The observation group had a significantly shorter duration of mechanical ventilation than the control group [(64±39) hours vs (88±69) hours, P < 0.05]. There were no significant differences between the two groups in the duration of mechanical ventilation, total oxygen supply time, blood gas parameters before and after ventilator weaning, incidence rates of complications, and outcome at discharge (P > 0.05). Conclusions For preterm infants with NRDS, the strategy of weaning directly from HFOV is safe and reliable and can reduce the duration of invasive mechanical ventilation, and therefore, it holds promise for clinical application.

2021 Vol. 23 (1): 18-24 [Abstract] ( 2593 ) [HTML 1KB] [PDF 1270KB] ( 873 )
25 ZHANG Su-E, CHEN Xue-Yu, CHEN Chun, QIU Xiao-Mei, LIN Bing-Chun, YANG Chuan-Zhong
Influence of premature rupture of membranes on the early prognosis of extremely premature infants

Objective To study the influence of premature rupture of membranes (PROM) on the early prognosis of extremely premature infants, and to provide a basis for the management of extremely premature infants and prenatal consultation. Methods A total of 179 extremely premature singleton infants who were born from 2017 to 2019 were enrolled. According to the presence or absence of PROM, they were divided into two groups: PROM group (n=69) and non-PROM group (n=110). A statistical analysis was performed for maternal data and early prognostic indicators. Results Compared with the non-PROM group, the PROM group had significantly higher incidence rates of earlyonset sepsis and necrotizing enterocolitis (NEC) (P < 0.05) and significantly lower rate of use of pulmonary surfactant and incidence rate of hemodynamically significant patent ductus arteriosus (P < 0.05). The multivariate logistic regression analysis showed that chorioamnionitis was an independent risk factor for early-onset sepsis and NEC (OR=11.062 and 9.437 respectively, P < 0.05), and PROM was an independent protective factor against the use of pulmonary surfactant (OR=0.363, P < 0.05). Conclusions PROM increases the incidence rates of early-onset sepsis and NEC in extremely premature infants and does not increase the incidence rates of other adverse outcomes. For pregnant women with PROM at the risk of extremely preterm delivery, prevention of miscarriage and chorioamnionitis is recommended to prolong gestational weeks, reduce the incidence rate of infection, and thus improve the outcome of extremely premature infants.

2021 Vol. 23 (1): 25-30 [Abstract] ( 2270 ) [HTML 1KB] [PDF 1272KB] ( 944 )
31 YAO Ling-Song, LIN Xin-Zhu, HUANG Jing, TANG Li-Xia
Clinical effect of an additional maintenance dose of caffeine before ventilator weaning in preterm infants with respiratory distress syndrome: a prospective randomized controlled trial

Objective To study the clinical effect of an additional maintenance dose (5 mg/kg) of caffeine citrate injection at 1 hour before ventilator weaning in improving the success rate of ventilator weaning in preterm infants (gestational age ≤32 weeks) with respiratory distress syndrome (RDS) on mechanical ventilation. Methods A total of 338 preterm infants with RDS (gestational age of ≤32 weeks) who were admitted to the Neonatal Intensive Care Unit of Xiamen Maternal and Child Health Hospital from January 2017 to December 2019 and treated with mechanical ventilation were enrolled. They were randomly divided into an observation group and a routine group, with 169 infants in each group. Both groups received early routine treatment with caffeine. The infants in the observation group received an additional maintenance dose of caffeine citrate injection at 1 hour before ventilator weaning. The two groups were compared in terms of reintubation rate and number of apnea episodes within 48 hours after ventilator weaning, changes in blood gas parameters, blood glucose, heart rate, and mean blood pressure at 2 hours after ventilator weaning, and incidence rates of major complications during hospitalization. Results Compared with the routine group, the observation group had significantly lower reintubation rate (P=0.034) and number of apnea episodes (≥2 times/day) (P=0.015) within 48 hours after ventilator weaning. Compared with the routine group at 2 hours after ventilator weaning, the observation group had a significantly higher pH value and a significantly lower arterial partial pressure of carbon dioxide (P < 0.05), while there were no significant differences between the two groups in arterial partial pressure of oxygen, blood glucose, heart rate, and mean blood pressure (P > 0.05). During hospitalization, the observation group had a significantly lower incidence rate of intraventricular hemorrhage than the routine group (P=0.048), but there were no significant differences between the two groups in the incidence rates of bronchopulmonary dysplasia, necrotizing enterocolitis, retinopathy of prematurity, and periventricular leukomalacia and mortality rate (P > 0.05). Conclusions An additional maintenance dose of caffeine citrate injection at 1 hour before ventilator weaning is safe and effective in improving the success rate of ventilator weaning in preterm infants with RDS and thus holds promise for clinical application.

2021 Vol. 23 (1): 31-36 [Abstract] ( 2341 ) [HTML 1KB] [PDF 1409KB] ( 870 )
37 CHEN Xiao-Hui, ZHU Jin-Gai, YU Zhang-Bin, JIANG Cheng-Yao, HAN Shu-Ping
Influence of twin pregnancy by assisted reproductive technology on neonatal outcomes

Objective To study the influence of twin pregnancy by assisted reproductive technology (ART) versus twin pregnancy by spontaneous conception (SC) on neonatal outcomes. Methods A retrospective analysis was performed for the clinical data of 3 356 live twins with a gestational age of ≥24 weeks who were born in Nanjing Maternal and Child Health Hospital from 2017 to 2019, with 2 006 twins (1 003 pairs) in the ART group and 1 350 (675 pairs) in the SC group. The two groups were compared in terms of the mother's general information and pregnancy comorbidities and the general information, diseases, and outcomes of neonates. Results Compared with the SC group, the ART group had a significantly higher maternal age (P < 0.05) and significantly higher rates of primiparity, cesarean section, and cervical cerclage (P < 0.05). Compared with the SC group, the ART group had significantly higher incidence rates of maternal pregnancy comorbidities including hypertension, gestational diabetes, and postpartum hemorrhage (P < 0.05). Compared with the SC group, the ART group had a significantly lower mean gestational age of neonates (P < 0.05) and a significantly higher proportion of very-low-birth-weight infants (6.8% vs 5.8%, P < 0.05), while ART did not increase the risks of preterm birth and low Apgar score. There were no significant differences between the two groups in the mortality rate of neonates and the incidence rates of neonatal diseases including respiratory distress syndrome, stage II/III necrotizing enterocolitis, bronchopulmonary dysplasia, and grade III-IV intracranial hemorrhage (P > 0.05). Conclusions Compared with twin pregnancy by SC, twin pregnancy by ART does not increase the neonatal mortality rate and risk of adverse outcomes.

2021 Vol. 23 (1): 37-42 [Abstract] ( 2335 ) [HTML 1KB] [PDF 1361KB] ( 866 )
43 HE Jing, YANG Yue-Ming, LIU Ling, WANG Dong
Influence of maternal and infant factors on CD34+ hematopoietic stem/progenitor cells in umbilical cord blood

Objective To study the association of different maternal and infant factors with the number of total nucleated cells and CD34+ hematopoietic stem/progenitor cells in umbilical cord blood, and to provide a reference for reasonable selection of umbilical cord blood in the cord blood bank. Methods A prospective study was performed for the umbilical cord blood samples of 130 neonates who were born in Dalian Women and Children's Medical Center from June 2019 to January 2020, with a male/female ratio of 1:1. Related perinatal information was collected, including maternal age and blood type, presence or absence of gestational diabetes or gestational hypertension, pregnancy method, mode of delivery, singleton pregnancy/twin pregnancy, body weight and sex of neonates, Apgar score after birth, and the conditions of placenta, amniotic fluid, and umbilical cord. Results The neonates were grouped according to maternal blood type, gestational diabetes, gestational hypertension, pregnancy method, mode of delivery, singleton pregnancy/ twin pregnancy, sex of neonates, Apgar score after birth, placental morphology, meconium staining of amniotic fluid, and umbilical cord around the neck. The comparison between groups showed no significant differences in the numbers of total nucleated cells and CD34+ cells in umbilical cord blood (P > 0.05). Maternal age and neonatal body weight were not correlated with the number of total nucleated cells in umbilical cord blood (P > 0.05), and neonatal body weight was not correlated with the number of CD34+ cells (P > 0.05), while maternal age was positively correlated with the number of CD34+ cells (P < 0.05). Conclusions The number of CD34+ cells in umbilical cord blood increases with the increase in maternal age, and therefore, umbilical cord blood in the cord blood bank may be selected based on maternal age.

2021 Vol. 23 (1): 43-48 [Abstract] ( 1925 ) [HTML 1KB] [PDF 1369KB] ( 695 )
49 SHAO Kuan-Furong, GUAN Feng-Jun, DONG Chen
Clinical effect and mechanism of total glucosides of paeony in the adjuvant therapy for children with Henoch-Schönlein purpura nephritis: a prospective randomized controlled study

Objective To study the clinical effect and mechanism of total glucosides of paeony (TGP) in the adjuvant therapy for children with Henoch-Schönlein purpura nephritis (HSPN). Methods Sixty-four HSPN children with moderate proteinuria were divided into a TGP treatment group (n=34) and a routine treatment group (n=30) using a random number table. Thirty healthy children who underwent physical examination were enrolled as the healthy control group. The children in the routine treatment group were given conventional treatment alone, and those in the observation group were given TGP in addition to the conventional treatment. The two groups were compared in the clinical outcome after 4 weeks of treatment. The proportion of follicular helper T (Tfh) cells in peripheral blood and the plasma levels of interleukin-21 (IL-21) and interleukin-4 (IL-4) were measured in the healthy control group and the two HSPN groups. The changes in serum cystatin C (CysC) level and urinary alpha 1-microglobulin (A1M) concentration were compared before and after treatment in the two HSPN groups. Results Compared with the healthy children before treatment, the children with HSPN had higher proportion of Tfh cells and expression levels of IL-21 and IL-4 (P < 0.01). The TGP treatment group had a higher overall response rate to treatment than the routine treatment group (94% vs 67%, P < 0.05). After treatment, both groups had reductions in the proportion of Tfh cells in peripheral blood, the expression levels of IL-21, IL-4, serum CysC, and urinary A1M concentration. The TGP treatment group had greater reductions in these indices than the routine treatment group (P < 0.01). Conclusions TGP has a marked clinical effect in the treatment of HSPN and can reduce the inflammatory response of the kidney and exert a protective effect on the kidney by inhibiting the proliferation of Tfh cells and downregulating the expression of IL-21 and IL-4 in plasma.

2021 Vol. 23 (1): 49-54 [Abstract] ( 2541 ) [HTML 1KB] [PDF 1689KB] ( 691 )
55 WEN Si-Jia, CHEN Li-Zhi, CHENG Cheng, LIN Zhi-Lang, MO Ying, JIANG Xiao-Yun
Clinicopathological features of children with lupus nephritis with positive antineutrophil cytoplasmic antibody

Objective To study the clinicopathological features of children with lupus nephritis (LN) with positive anti-neutrophil cytoplasmic antibody (ANCA). Methods A retrospective analysis was performed for the children who were diagnosed with LN in the First Affiliated Hospital of Sun Yat-sen University from January 2003 to December 2019. According to the results of serum ANCA, they were divided into two groups: ANCA-positive group (n=59) and ANCAnegative group (n=454). The two groups were compared in terms of clinical manifestations, histopathological features, remission rate, and prognosis. Results Compared with the ANCA-negative group, the ANCA-positive group had a significant reduction in leukocytes and a significant increase in erythrocyte sedimentation rate (P < 0.05). There were no significant differences between the two groups in serum creatinine, urine protein, and urine red blood cell count (P > 0.05). A total of 308 children underwent kidney biopsy. The results on light microscopy showed that compared with the ANCAnegative group, the ANCA-positive group had a significantly higher proportion of children with cellular fibrous crescents (P < 0.05) and a significantly lower proportion of children with immune complex deposition (P < 0.05). There were no significant differences between the two groups in the remission rate and survival rate (P > 0.05). Conclusions Children with ANCA-positive LN tend to have more severe renal pathological injury, which is not exactly parallel with clinical manifestations, suggesting that timely renal biopsy is of great importance.

2021 Vol. 23 (1): 55-60 [Abstract] ( 2300 ) [HTML 1KB] [PDF 1464KB] ( 641 )
61 DU Zhao-Song, XU Hua, LIU Mao-Chang
A retrospective analysis of medication in children with SARS-CoV-2 infection in Wuhan, China

Objective To study the medication in children with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in Wuhan, China, and to provide a reference for rational drug use in clinical practice. Methods A retrospective analysis was performed on the medical data of the children who were diagnosed with SARS-CoV-2 infection from January 26 to March 5, 2020. The children were divided into an asymptomatic group with 41 children and a symptomatic group with 73 children. A subgroup analysis was performed to investigate the effect of different antiviral regimens (monotherapy, double therapy, or triple therapy) and whether interferon α-1b was used in combination with azithromycin on the length of hospital stay and the clearance time of SARS-CoV-2 nucleic acid. Results A total of 114 children with SARS-CoV-2 infection (72 boys and 42 girls) were enrolled. The median age of the children was 7.1 years. The median length of hospital stay was 10 days and the clearance time of SARS-CoV-2 nucleic acid was 6 days. In either group, the subgroup analysis showed no significance differences in the length of hospital stay and the clearance time of SARS-CoV-2 nucleic acid between the subgroups treated with different combinations of antiviral drugs and the subgroups treated with interferon α-1b alone or in combination with azithromycin (P > 0.05). Conclusions It is not recommended to use the routine combinations of antiviral drugs for children with SARS-COV-2 infection or combine with azithromycin for the purpose of antiviral therapy.

2021 Vol. 23 (1): 61-66 [Abstract] ( 1795 ) [HTML 1KB] [PDF 1487KB] ( 532 )
67 REN Kang-Yi, REN Luo, DENG Yu, XIE Xiao-Hong, ZANG Na, XIE Jun, LUO Zheng-Xiu, LUO Jian, FU Zhou, LIU EnMei, LI Qu-Bei
Epidemiological characteristics of respiratory syncytial virus in hospitalized children with acute lower respiratory tract infection in Chongqing, China, from 2013 to 2018: an analysis of 2 066 cases

Objective To study the detection rate, epidemic pattern, and clinical features of respiratory syncytial virus (RSV) in hospitalized children with acute lower respiratory infection (ALRI). Methods Nasopharyngeal aspirates were collected from children with ALRI, aged < 2 years, who were hospitalized in Children's Hospital of Chongqing Medical University from June 2013 to May 2018. Multiplex PCR was used to detect 16 common respiratory viruses. The epidemiological characteristics of RSV were analyzed. Results A total of 2 066 hospitalized children with ALRI were enrolled. Among the children, 1 595 (77.20%) tested positive for virus and 826 (39.98%) tested positive for RSV [410(49.6%) positive for RSV-A, 414 (50.1%) positive for RSV-B, and 2 (0.2%) positive for both RSV-A and RSV-B]. RSV-B was the main subtype detected in 2013-2014 and 2016-2017, while RSV-A was the main subtype in 2014-2015 and 2017-2018, and these two subtypes were prevalent in 2015-2016. The highest detection rate of RSV was noted in winter. RSV + human rhinovirus was the most common combination of viruses and was detected in 123 children. These children were more likely to develop wheezing than those with single RSV detected (P=0.030). A total of 298 samples were detected with single RSV, 148 were detected with RSV mixed with other viruses, 389 were detected with other viruses, and 241 were detected negative for viruses. Compared with the other viruses and negative virus groups, the single RSV group had a significantly younger age and significantly higher incidence rates of dyspnea, respiratory failure, and severe lower respiratory tract infection (P < 0.0083). The RSV-A positive group had a significantly higher proportion of boys than the RSV-B positive group (P=0.004), but there were no significant differences in clinical manifestations between the two groups. Conclusions In Chongqing in 2013-2018, RSV-A and RSV-B not only can predominate alternately, but also can co-circulate during a season. RSV is the major viral pathogen of hospitalized children with ALRI and can cause severe lower respiratory tract infection. There are no differences in clinical manifestations between children with RSV-A infection and those with RSV-B infection, but boys are more susceptible to RSV-A infection.

2021 Vol. 23 (1): 67-73 [Abstract] ( 2130 ) [HTML 1KB] [PDF 1657KB] ( 821 )
74 PENG Li, ZHONG Li-Li, HUANG Zhen, LI Yan, ZHANG Bing
Clinical features of children with Mycoplasma pneumoniae pneumonia and peripheral lymphocytopenia

Objective To study the clinical features of children with Mycoplasma pneumoniae pneumonia (MPP) and peripheral lymphocytopenia. Methods A total of 310 MPP children who were hospitalized and underwent bronchoalveolar lavage from June 2018 to June 2019 were enrolled and divided into two groups: simple MPP group with 241 children (without peripheral lymphocytopenia) and MPP + peripheral lymphocytopenia group with 69 children. The two groups were compared in terms of clinical data and treatment outcome. Results Compared with the simple MPP group, the MPP + peripheral lymphocytopenia group had significantly longer duration of fever and length of hospital stay and significant increases in C-reactive protein, lactate dehydrogenase, and Mycoplasma pneumoniae DNA copies in bronchoalveolar lavage fluid (P < 0.05). Compared with the simple MPP group, the MPP + peripheral lymphocytopenia group had significantly higher incidence rates of intrapulmonary consolidation, extrapulmonary complications, and serious lesions under bronchoscopy (erosion or sputum bolt) and a significantly higher proportion of patients with severe MPP (P < 0.05). Conclusions Children with MPP and peripheral lymphocytopenia tend to have more severe immunologic injury. Peripheral blood lymphocyte count may be used to evaluate the severity of MPP.

2021 Vol. 23 (1): 74-77 [Abstract] ( 2056 ) [HTML 1KB] [PDF 1370KB] ( 673 )
78 ZHOU Hong-Mei, QIU Qiu, YAN Meng-Huan, PENG Li-Juan, FANG Jing-Jing, ZHOU Bing-Jie, YANG Sha-Sha, ZHANG Gang-Cheng
Effect of calorie-enriched formula on postoperative catch-up growth in infants with cyanotic congenital heart disease: a propective randomized controlled study

Objective To study the effect of calorie-enriched formula on postoperative catch-up growth in infants with cyanotic congenital heart disease (CHD). Methods A total of 100 infants with cyanotic CHD who underwent surgical operation from January to December, 2017, were randomly divided into a high-calorie group (receiving calorie-enriched formula after surgery) and a conventional group (receiving standard formula after surgery), with 50 infants in each group. All infants were followed up for 6 months. The observation indices included body height, body weight, prealbumin, and N-terminal pro-brain natriuretic peptide before surgery, at the time of ventilator weaning and extubation after surgery, and at 1, 3, and 6 months after surgery. Height-for-age Z-score (HAZ), weight-for-age Z-score (WAZ), and weight-for-height Z-score (WHZ) were also assessed. Adverse reactions were recorded for both groups. Results There were 25 cases (50%) and 21 cases (42%) of malnutrition in the high-calorie group and the conventional group respectively before surgery (P > 0.05). The nutritional status of the two groups improved 6 months after surgery (P < 0.05). At 6 months after surgery, compared with the conventional group, the high-calorie group had a lower proportion of infants with malnutrition (18% vs 36%, P < 0.05) and also a lower proportation of infants with a WAZ score of < -2 (P < 0.05). The infants with malnutrion in the high-calorie group had higher HAZ, WAZ, and WHZ than those in the conventional group (P < 0.05). No gastrointestinal intolerance was observed in both groups during hospitalization. Conclusions Compared with the standard formula, calorie-enriched formula can better help with postoperative catch-up growth in infants with cyanotic CHD.

2021 Vol. 23 (1): 78-83 [Abstract] ( 2285 ) [HTML 1KB] [PDF 1579KB] ( 663 )
84 ZHANG Feng-Hua, AN Jin-Dou, FENG Song, ZHANG Xiao-Jian, ZHAO Xiao-Lin
Clinical manifestations and gene mutation analysis of children with noncompaction of the ventricular myocardium: an analysis of 6 cases

This article summarizes and analyzes the clinical features and gene mutation characteristics of children with noncompaction of the ventricular myocardium (NVM). For the 6 children with NVM (4 boys and 2 girls), the age of onset ranged from 3 months to 12 years. Of the 6 children, 5 had arrhythmia, 3 had cardiac insufficiency, 1 had poor mental state, and 1 had chest distress and sighing. NVM-related gene mutations were detected in 4 children, among whom 2 had MYH7 gene mutation, 1 had PRDM16 gene mutation, and 1 had mutations in the ACTN2 and TNNT2 genes. Four children had improvement in cardiac function. The two children with no significant improvement in cardiac function had a younger age of onset, a greater reduction in systolic function on echocardiography, and greater increases in myocardial enzyme and N-terminal pro-brain natriuretic peptide. It is concluded that for children with the initial symptoms of chest distress, sighing, arrhythmia, enlarged heart shadow, and increased myocardial enzyme, echocardiography and cardiac magnetic resonance are recommended for the diagnosis of NVM. NVM can have various genetic mutations.

2021 Vol. 23 (1): 84-90 [Abstract] ( 2012 ) [HTML 1KB] [PDF 2225KB] ( 762 )
91 WANG Mei-Juan, ZHONG Xue-Mei, MA Xin, NING Hui-Juan, ZHU Dan, GONG You-Zhe, JIN Meng
Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis

Objective To explore the clinical characteristics and genetic findings of patients with infantile intrahepatic cholestasis. Methods The clinical data were collected in children who were admitted to the Department of Gastroenterology in Children's Hospital, Capital Institute of Pediatrics from June 2017 to June 2019 and were suspected of inherited metabolic diseases. Next generation sequencing based on target gene panel was used for gene analysis in these children. Sanger sequencing technology was used to verify the genes of the members in this family. Results Forty patients were enrolled. Pathogenic gene variants were identified in 13 patients (32%), including SLC25A13 gene variation in 3 patients who were diagnosed with citrin deficiency, JAG1 gene variation in 3 patients who were diagnosed with Alagille syndrome, ABCB11 gene variation in 3 patients who were diagnosed with progressive familial intrahepatic cholestasis type 2, HSD3B7 gene variation in 1 patient who was diagnosed with congenital bile acid synthesis defect type 1, AKR1D1 gene variation in 1 patient who was diagnosed with congenital bile acid synthesis defect type 1, NPC1 gene variation in 1 patient who was diagnosed with Niemann-Pick disease, and CFTR gene variation in 1 patient who was diagnosed with cystic fibrosis. Conclusions The etiology of infantile intrahepatic cholestasis is complex. Next generation sequencing is helpful in the diagnosis of infantile intrahepatic cholestasis.

2021 Vol. 23 (1): 91-97 [Abstract] ( 2392 ) [HTML 1KB] [PDF 1697KB] ( 1158 )
CASE ANALYSIS
98 I Ke-Yao, TANG Jian-Ping, JIANG Yan-Ling, TAN Xin, WEI Zhu, WEN Rong, ZHOU Bin
Recurrent vulvar rashes in a girl aged 22 months for more than half a year

A girl, aged 22 months, attended the hospital due to recurrent vulvar rashes for more than half a year. Skin biopsy showed Langerhans cell histiocytosis, and evaluation of systemic conditions showed no systemic involvement. Therefore, the girl was diagnosed with Langerhans cell histiocytosis (skin type). In conclusion, for rashes on the vulva alone, if there are no specific clinical manifestations, the possibility of Langerhans cell histiocytosis should be considered after molluscum contagiosum, sexually transmitted diseases, and Fordyce disease are excluded.

2021 Vol. 23 (1): 98-102 [Abstract] ( 2218 ) [HTML 1KB] [PDF 1944KB] ( 675 )
EXPERIMENTAL RESEARCH
103 CAO Jing, LUO Jia-Yuan, WU Dian, ZHAO Qian, LI Ming-Xia
Effect and mechanism of vascular endothelial growth factor-A on pulmonary vascular remodeling in neonatal rats with hypoxic pulmonary hypertension

Objective To study the role of vascular endothelial growth factor-A (VEGF-A) in pulmonary vascular remodeling in neonatal rats with hypoxic pulmonary hypertension (HPH) by regulating survivin (SVV). Methods A total of 96 neonatal rats were randomly divided into three groups: HPH+VEGF-A group, HPH group, and control group. Each group was further randomly divided into 3-, 7-, 10-, and 14-day subgroups (n=8 in each subgroup). The neonatal rats in the HPH+VEGF-A and HPH groups were intratracheally transfected with adenoviral vectors with or without VEGF-A gene respectively. Those in the control group were given intratracheal injection of normal saline and were then fed under normoxic conditions. The direct measurement method was used to measure mean right ventricular systolic pressure (RVSP). Hematoxylin-eosin staining was used to observe the morphological changes of pulmonary vessels under a light microscope and calculate the percentage of media wall thickness (MT%) and the percentage of media wall cross-sectional area (MA%) in the pulmonary arterioles. Immunohistochemistry was used to measure the expression levels of VEGF-A and SVV in lung tissue. Results The HPH group had a significantly higher mean RVSP than the control and HPH+VEGF-A groups at each time point (P < 0.05). Pulmonary vascular remodeling occurred in the HPH group on day 7 of hypoxia, while it occurred in the HPH+VEGF-A group on day 10 of hypoxia. On day 7 of hypoxia, the HPH group had significantly higher MT% and MA% than the control and HPH+VEGF-A groups (P < 0.05). On days 10 and 14 of hypoxia, the HPH and HPH+VEGF-A groups had significantly higher MT% and MA% than the control group (P < 0.05). The HPH and HPH+VEGF-A groups had significantly higher expression of VEGF-A than the control group at each time point (P < 0.05). On days 3 and 7 of hypoxia, the HPH+VEGF-A group had significantly higher expression of VEGF-A than the HPH group (P < 0.05). On day 14 of hypoxia, the HPH group had significantly higher expression of SVV than the control group (P < 0.05). The HPH+VEGF-A group had significantly higher expression of SVV than the control group at each time point (P < 0.05). On days 3 and 7 of hypoxia, the HPH+VEGF-A group had significantly higher expression of SVV than the HPH group (P < 0.05). Conclusions Prophylactic intratracheal administration of exogenous VEGF-A in neonatal rats with HPH can inhibit pulmonary vascular remodeling and reduce pulmonary arterial pressure by upregulating the expression of SVV in the early stage of hypoxia. This provides a basis for the interventional treatment of pulmonary vascular remodeling in neonatal HPH.

2021 Vol. 23 (1): 103-110 [Abstract] ( 2279 ) [HTML 1KB] [PDF 5088KB] ( 707 )
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