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Research progress in genetic mechanism for congenital heart disease

Chinese Journal of Applied Clinical Pediatrics.2019;34(13):970-975. doi:10.3760/cma.j.issn.2095-428X.2019.13.002

Congenital heart disease (CHD) is the most common birth defect and is also the leading cause of death in infants and young children.Studying the pathogenesis of CHD and preventing the development of CHD are major scientific problems that need to be solved urgently.Now, it is known that the occurrence of CHD is caused by multiple factors such as genetic factors and environmental factors.In this paper, the genetic mechanisms in the progress of CHD were summarized.

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Advance in imaging diagnosis of congenital heart disease

Xiaojing MA ; Xihong HU ; Guoying HUANG

Chinese Journal of Applied Clinical Pediatrics.2019;34(13):976-979. doi:10.3760/cma.j.issn.2095-428X.2019.13.003

Echocardiography, computed tomography (CT) and magnetic resonance imaging (MRI), as the non-invasive cardiovascular imaging techniques, play an increasingly important role in the preoperative diagnosis, intrao-perative monitoring and follow-up of congenital heart disease (CHD). At present, these techniques are widely used in the clinical diagnosis and assessment of CHD, providing comprehensive and reliable information about the cardiovascular structure and function for clinical decision-making.However, these techniques have their own advantages and limitations.The research progress of echocardiography, CT and MRI used in the diagnosis of CHD were reviewed in this paper.

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Advances in managing of congenital heart disease

Fang LIU ; Quming ZHAO

Chinese Journal of Applied Clinical Pediatrics.2019;34(13):980-985. doi:10.3760/cma.j.issn.2095-428X.2019.13.004

Congenital heart disease (CHD) is the most common type of congenital malformation, representing a major public health problem affecting the health of Chinese children.Great progress has been made in many aspects in the treatment of CHD in China.The vast majorities of children with CHD have been treated and they have survived for a long time, but cardiac dysfunction and pulmonary hypertension are still common complications of it before or after surgery.In this paper, the advances in drug treatment of CHD in children in recent years were mainly discussed, focused on the evaluation, treatment and management of CHD with heart failure and pulmonary hypertension in order to further improve the pediatrician′s therapeutic level of managing common complications of CHD.

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Changes in heart rate deceleration capacity and variability in resting children with vasovagal syncope

Jing ZHANG ; Tong ZHENG ; Yao LIN ; Yang LIU ; Lin SHI

Chinese Journal of Applied Clinical Pediatrics.2019;34(13):986-989. doi:10.3760/cma.j.issn.2095-428X.2019.13.005

Objective: To investigate the changes in heart rate deceleration capacity(DC) and heart rate va-riability(HRV) parameters in children with vasovagal syncope(VVS), to assess the basic autonomic function of children with VVS, and to explore the reference value of DC for the diagnosis of VVS in children. Methods: VVS group included 62 patients diagnosed with VVS in the Cardiovascular Department of Children′s Hospital Affiliated to Capital Institute of Pediatrics from June 2015 to December 2017, 56 outpatients undergoing physical examination were selected as the healthy control group, and the changes in DC and HRV matched to age and gender were analyzed respectively.Indexes of DC and HRV of both groups of children in health control group and children with VVS were compared among different age groups or different genders. Results: (1)Analysis of DC and HRV based on age or gender: whether in healthy children or in children with VVS, DC and HRV parameters varied significantly in the range of different ages, while they were the same in children with different genders.(2)Comparison of DC and HRV in school-age and puberty children between VVS group and healthy control group: in school-aged children, DC of VVS group was significantly higher than that of healthy control group [(6.8±1.0) ms vs.(6.0±0.7) ms, t=-2.412, P<0.01]. Mean square root rates of succe-ssive normal sinus RR interval differences(rMSSD) increased, and the difference was significant (P<0.05). In children at puberty, DC in children of VVS group was significantly higher than that in the healthy control group [(7.4±1.2) ms vs.(6.6±1.1) ms, t=-2.742, P<0.01], rMSSD, LF and HF value were significantly higher compared with those of the healthy control group (all P<0.05). (3)Predictive value of DC on VVS: the binary Logistic regression analysis found that only DC was associated with VVS in different age groups.By using receiver operating characteristic curve to analyze the predictive value of DC on VVS, it was found that when making DC 6.5 ms for school age and 7.0 ms at puberty as the threshold, a better prediction of VVS could be achieved with good sensitivity and specificity. Conclusions Children′s autonomic nervous function changes with age, and DC and HRV parameters change significantly during adolescence and at school age.Children with VVS may have abnormally increased vagal tone.When DC ≥6.5 ms at school age or DC≥7.0 ms at puberty, it may have a reference value for the diagnosis of VVS.

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Surgical treatment of pediatric unroofed coronary sinus syndrome

Feng TONG ; Jia ZHENG ; Zhenjiang SONG ; Song BAI ; Xiaofeng LI

Chinese Journal of Applied Clinical Pediatrics.2019;34(13):990-992. doi:10.3760/cma.j.issn.2095-428X.2019.13.006

Objective: To analyze the clinical features and surgical treatment of unroofed coronary sinus syndrome(UCSS) in children, and to provide evidence for the diagnosis and treatment of such diseases during the perio-perative period. Methods: A retrospective analysis was conducted based on the clinical data of 13 patients with UCSS, who underwent surgical treatment at Beijing Children′s Hospital Affiliated to Capital Medical University from January 2011 to December 2017.All 13 patients were complicated with persistent left superior vena cava(PLSVC) and other cardiac malformations; 7 patients were diagnosed preoperatively and 6 patients were diagnosed intraoperatively.Eleven cases were diagnosed type Ⅰ and 2 cases were type Ⅳ according to Kirklin′s classification.In all of 13 cases, atrial septal reconstruction was performed to drain the left superior vena cava(LSVC) to the right atrium, and other cardiac malformations were corrected at the same time. Results: One patient died in this group, and the other 12 patients had early recovery after operation.Postoperative-ventilator-assisted time was 5-246 h(median 29 h) and hospital stay time was 8-40 d(median 16 d). The remaining 12 cases were followed up from 6 months to 7 years and 2 months.No death or complications occurred.No residual shunt or residual obstruction was found. Conclusions In the case of congenital heart disease with PLSVC, UCSS should be alerted.Atrial septal reconstruction and drainage of LSVC into right atrium in children with UCSS can achieve satisfactory surgical results.

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Etiology and clinical analysis of 232 hospitalized children with hypertension

Dan LI ; Xiaohui LI ; Lin SHI ; Aijie LI ; Mingming ZHANG ; Yang LIU

Chinese Journal of Applied Clinical Pediatrics.2019;34(13):993-996. doi:10.3760/cma.j.issn.2095-428X.2019.13.007

Objective: To analyze the etiology and clinical characteristics of hypertension in children; to analyze the risk factors for primary hypertension with target organ damage, and to provide evidence for clinical diagnosis of hypertension in children. Methods: Two hundred and thirty-two hospitalized children with hypertension at Children′s Hospital Institute of Pediatrics from April 2013 to December 2017 were retrospectively analyzed, including general situation, clinical manifestation, laboratory examination, auxiliary examination and damage assessment of target organs. Results: (1)There were totally 232 eligible cases, consisting of 184 males(79.3%) and 48 females(20.7%). Among these children: 38 cases(16.4%), 126 cases(54.3%), and 68 cases(29.3%) were diagnosed as prehypertension, hypertension in stage Ⅰ, and hypertension in stage Ⅱ, respectively.(2)The etiological composition of hypertension: there were 181 cases(78%) diagnosed as primary hypertension and 51 cases(22%) diagnosed as secondary hypertension, respectively; the proportion of the primary hypertension children during the period of preschool, school-age, and adolescent was 1.6%(3 cases), 21.0%(38 cases) and 77.4%(140 cases), respectively.The etiology of secondary hypertension was mostly of the renal parenchymal hypertension and renal vascular hypertension(43.1%). (3) The clinical manifestations of primary hypertension were mostly of asymptomatic or mild symptoms, totally 148 cases(64%), and then dizziness, headache, chest pain, chest tightness, palpitation, blurred vision, and other clinical symptoms.(4) The high risk factors for primary hypertension with target-organ damage included cesarean section, glucose metabolism disturbance and body mass index >24 kg/m². Conclusions In recent years, the proportion of primary hypertension among hospitalized children has increased.The changes in the etiology of secondary hypertension are not found.Primary hypertension children are often accompanied with target organ damage.It is of great significance to make blood pressure monitoring as a routine physical examination for primary and middle school students, so as to detect hypertension in children earlier, and make active intervention and improve the prognosis of hypertension in children.

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Clinical and imaging features of 13 children with myelin oligodendrocyte glycoprotein antibody encephalomyelitis

Min XU ; Hu GUO ; Yan HE ; Li WANG ; Chao LIANG ; Le DING ; Guo ZHENG ; Xiaopeng LU ; Gang ZHANG

Chinese Journal of Applied Clinical Pediatrics.2019;34(13):997-1001. doi:10.3760/cma.j.issn.2095-428X.2019.13.008

Objective: To investigate the clinical and imaging features of myelin oligodendrocyte glycoprotein antibody(MOG) encephalomyelitis in children. Methods: The clinical, laboratory finding, imaging and follow-up data of 13 children with MOG encephalomyelitis (MOG-EM) diagnosed by Children′s Hospital of Nanjing Medical University from December 2016 to December 2018 were retrospectively analyzed. Results: Among the 13 children, 4 cases were male and 9 cases were female, the median age was 8 years old and 1 month.Symptoms of the first episode included fever, drowsiness in 2 cases, visual acuity in 5 cases, convulsions in 3 cases, urinary retention in 2 cases, and ataxia in 2 cases.Abnormalities were found in 12 cases by the head magnetic resonance imaging(MRI), most of which showed extensive or isolated subcortical white matter lesions, and a few deep gray matter nuclei and brainstem were involved; 3 cases of spinal MRI abnormalities, mainly characterized by long segmental transverse myelitis; 6 cases optic nerve MRI abnormalities were found in 6 cases, manifested as disease side optic nerve or optic chiasm abnormal signals; the titer of serum MOG antibody was 110-1320 in 13 cases.All children responded well to glucocorticoids and gamma globulin, and all symptoms were alleviated after treatment.Two patients had recurrence during the follow-up period, which was characterized by optic neuritis.After azathioprine addition, there was no recurrence after 1 to 2 years of follow-up. Conclusions Children with MOG antibody encephalomyelitis present a decline in visual acuity commonly.The images are mainly acute disseminated encephalomyelitis-like changes, immunosuppressive therapy is effective, generally with a better prognosis.

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Effect of transumbilical single channel laparoscopic cryptorchidopexy by conventional instruments on cryptorchidism in children

Congjun WANG ; Yige LUO ; Hong WANG ; Xianming TANG ; Jiabo CHEN ; Wei LI ; Yanqiang LI ; Bo SHI ; Yong LI ; Cheng SU

Chinese Journal of Applied Clinical Pediatrics.2019;34(13):1002-1005. doi:10.3760/cma.j.issn.2095-428X.2019.13.009

Objective: To explore the safety and feasibility of transumbilical single channel laparoscopic cryptorchidopexy with conventional instruments in treatment of cryptorchidism in children. Methods: Thirty-five children with cryptorchidism were treated by transumbilical single channel laparoscopic cryptorchidopexy with conventional instruments from November 2017 to March 2018 at Department of Pediatric Surgery, the First Affiliated Hospital of Guangxi Medical University.Clinical data were recorded including the general information, operation time, intraoperative blood loss, postoperative testicular position and postoperative complications, etc. Results: All 35 patients completed the cryptorchidopexy in one operation.Among those 35 patients, 28 patients had unilateral lesions and 7 patients had bilateral lesions, with a total of 42 sides.Twenty-six patients were of groin type(33 sides), 9 patients abdominal type(9 sides). The average operation time was (40.4±8.2) min for unilateral lesion, and (62.5±15.3) min for bilateral lesions; the average intraoperative blood loss was (3.0±1.8) mL; and the average postoperative hospital stay was (6.4±2.1) h. Testis of 32 patients (40 sides) were fixed in the middle and bottoms of the scrotum, and testis of 2 patients (2 sides) were fixed on the top of the scrotum.One case had poor healing of naval incision, which was recovered in 1 week after dressing change.There were no postoperative complications such as scrotum hematoma, infection of incision, testicular epididymitis, testicular necrosis, testicular retraction or testicular atrophy, etc.No obvious visible scar was found in the abdomen review 2 weeks postoperatively, with the incidence of complications was 2.9%(1/35 cases). Conclusions Transumbilical single channel laparoscopic cryptorchidopexy with conventional instruments in treatment of cryptorchidism is characterized by small trauma, quick recovery, low complication rate and visible scar free result, which is worthy of clinical promotion, but the operation is relatively complex and the correct procedures are required.

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Effect of Tacrolimus on the expression of α-actinin-4 in podocytes induced by Puromycin aminonucleoside

Jieying FENG ; Li YU ; Zhihong HAO ; Shengyou YU

Chinese Journal of Applied Clinical Pediatrics.2019;34(13):1006-1010. doi:10.3760/cma.j.issn.2095-428X.2019.13.010

Objective: To investigate the effects of Tacrolimus(FK506) and Puromycin aminonucleoside(PAN) on apoptosis and expression of α-actinin-4 mRNA and protein in mouse glomerular podocytes in order to explore the protective effect of FK506 on podocytes. Methods: Mouse glomerular podocytes were cultured in vitro, and the control group, PAN group and FK506 group were established.After 8 h, 24 h and 48 h of treatment, the cell morphology was observed and the apoptosis rate was detected.The cells were collected by real-time PCR and Western blot was used to detect the mRNA and protein expression of α-actinin-4. Results: The cell body area of the PAN group was significantly smaller than that of the control group, and the cell area of the FK506 group was larger than that of the PAN group.There was no significant difference in the rate of podocyte apoptosis between those groups at 8 h (all P>0.05). At 24 h and 48 h, the apoptotic rate of podocytes in PAN group[(8.21±0.41)%, (16.32±0.17)%] were significantly higher than those in the control group[(4.28±0.35)%, (6.27±0.28)%], and the differences were significant (all P<0.05). The apoptosis rate of podocytes in FK506 group[(6.26±0.24)%, (13.32±0.24)%] were significantly lower than those in PAN group, and the differences were significant (all P<0.05). At 8 h, there was no significant difference in the expression of α-actinin-4 mRNA and protein(all P>0.05). The expression of mRNA (2.42±0.21, 3.78±0.25) and protein(0.77±0.04, 1.22±0.10) in the PAN group was significantly higher than mRNA(1.50±0.22, 2.15±0.15) and protein(0.44±0.03, 0.83±0.07) in the control group at 24 h and 48 h, and the differences were significant (all P<0.01). The expression of mRNA (1.65±0.24, 1.70±0.32) and protein (0.52±0.05, 0.56±0.07) in FK506 group was significantly lower than that of PAN group, and the differences were significant (all P<0.05). Conclusions FK506 can effectively inhibit the damage of PAN on podocytes and stabilize the expression of α-actinin-4, which provides a basis for the clinical application of FK506 in the treatment of glomerular diseases.

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Effects of multimodal analgesia on inflammatory cytokines and rapid rehabilitation after surgery in 3-6 months infant with Hirschprung′s disease

Jinlian QI ; Yingping JIA ; Xianwei ZHANG ; Wenhua WANG ; Haibing LU ; Zhengchen LI ; Xiuqin YUE

Chinese Journal of Applied Clinical Pediatrics.2019;34(13):1011-1015. doi:10.3760/cma.j.issn.2095-428X.2019.13.011

Objective: To study the effects of patient-controlled intravenous analgesia(PCIA) with Dexmedetomidine, Ropivacaine by local incision infiltration and combined analgesia on inflammatory factors and rapid rehabilitation in infants aged 3-6 months after radical resection of megacolon. Methods: From June 2016 to March 2018, 90 infants aged 3-6 months underwent radical resection of megacolon in Henan Provincial Children′s Hospital as the subjects.According to the postoperative analgesia mode applied to the children, they were divided into Dexmedetomidine group, Ropivacaine group and combined group (Dexmedetomidine PCIA combined with local infiltration of Ropivacaine), 30 cases in each group.The serum levels of interleukin(IL)-6 and IL-10 were measured and recorded 2 hours before operation and 24 hours after operation, and the analgesic scores of 4, 8, 12 and 24 hours after operation were recorded.The rapid recovery index of each group, standard and the number of complications were compared. Results: Compared with 2 hours before operation, the serum levels of IL-6 in the Dexmedetomidine group, Ropivacaine group and combined group [(24.61±1.44) ng/L vs.(13.84±0.65) ng/L, (26.39±1.29) ng/L vs.(13.85±0.67) ng/L, (20.58±2.06) ng/L vs.(13.87±0.63) ng/L], IL-10[(27.63±1.52) ng/L vs.(15.79±1.48) ng/L, (28.29±2.34) ng/L vs.(15.41±1.37) ng/L, (23.21±2.71) ng/L vs.(15.47±1.52) ng/L] were significantly higher (all P<0.05), while the levels of IL-6, IL-10 in combined group were lower than those in Dexmedetomidine group and Ropivacaine group (t_a=9.172, 9.835; t_b=10.221, 11.034, all P<0.05). At 4 h, 8 h, 12 h, 24 h after operation.The analgesic scores in combined group were(1.89±0.23) scores, (1.87±0.15) scores, (1.95±0.17) scores, (2.08±0.18) scores, those of dexmedetomidine group were(2.06±0.24) scores, (2.08±0.18) scores, (2.76±0.29) scores, (2.55±0.31) scores, those of Ropivacaine group were(2.10±0.26) scores, (2.15±0.26) scores, (2.32±0.19) scores, (3.00±0.28) scores, and the analgesic scores in combined group were significantly lower than those in Dexmedetomidine group and Ropivacaine group(t_a=8.526, 9.364, 10.287, 9.521; t_b=8.729, 9.514, 11.037, 9.184, all P<0.05). In comparison with the first exhaust time, anal extubation time, hospitalization days, hospitalization expenses and antibiotic use time in the three groups, it was found that combined group was significantly better than Dexmedetomidine group and Ropivacaine group(t_a=8.315, 8.294, 7.883, 9.261, 10.487; t_b=8.582, 8.329, 7.916, 9.348, 10.862, all P<0.05). The incidence of complications in the combined group, Dexmedetomidine group, and Ropivacaine group were not significantly different in 3 groups(χ²=0.577, P=0.749). Conclusions The continuous anesthesia of Dexmedetomidine combined with local infiltration of Ropivacaine incision can alleviate the postoperative inflammatory reaction and promote the rapid recovery of children.

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