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  • Reliability and validity of Chinese Communication Function Classification System(Fudan)
  • WANG Yan-na, SHI Wei
  • 2017 Vol. 12 (5): 321-327.
  • Abstract ( 467 ) PDF (494KB)( 1128 )
  • Objective:To determine the reliability and validity of Chinese Communication Function Classification System (CFCS, Fudan). Methods:Inclusion criteria: Children diagnosed as cerebral palsy aged from 2 to 18 years and preschool children with communication disorders(PCCD) in Children's Hospital of Fudan University and Shanghai Dong Li Feng Mei Health School from May to October 2017. Exclusion criteria: Children with severe hearing and visual impairments and families with nonChinese communication. Several pediatricians and rehabilitation therapists in the study group translated, retranslated, collectively discussed and formed the Chinese CFCS(Fudan) according to the English original translation. While the SLP was performing onsite CFCS, the caregivers who were given the process retrospectively assessed CFCS, relatively the one who took more care was the first caregiver and less for the second caregiver. The interrater reliability of the CFCS was determined by analyzing the correlation between the results of a SLP and a caregiver and the results of a caregiver and a caregiver. Pediatric Evaluation of Disability Inventory (PEDI) as a parallel validity test was assessed by the caregivers for children or children's main teachers at school. By analyzing the correlation of the SLP's CFCS levels and the scales of the PEDI social function items, the validity of CFCS was determined. Results:139 Children were involved in the research, 91 males and 48 females, aged between 2.0 and 15.8 (4.7 ± 3.2) years, 74 cases (53.2%) were from 2 to 4 years old and 65 cases were from 4 to 16 years old. 80 children with cerebral palsy were assessed by GMFCS, 47 were assessed by MACS, and 59 of 139 children were PCCD. The SLP assessed the all 139 children involved in the research. At least one caregiver in 102/139 (73.4%) families participated in the CFCS assessments, 2 caregivers in 48/102 (47.1%) families participated in the CFCS assessments. Overall reliability: Kw values between a SLP and a caregiver, the first and second caregiver were 0.83, 0.85. 55 children of 102 participants involved in CFCS assessments were cerebral palsy, of them 2 caregivers in 20 families participated in the CFCS assessments, Kw values between a SLP and a caregiver, the first and second caregiver were 0.88, 0.86. 47 children were PCCD, of them 2 caregivers in 28 families participated in the CFCS assessments, Kw values between a SLP and a caregiver, the first and second caregiver were 0.85, 0.82. As to the CFCS of Children aged 2 to 4 years, Kw value between a SLP and a caregiver was 0.77, and the first and second caregiver was 0.90. The CFCS of Children aged 4 to 16 years, Kw value between a SLP and a caregiver was 0.87, and the first and second caregiver was 0.74. 139 participants' correlation coefficient between the SLP's CFCS levels and the scales of the PEDI social function items was - 0.81.Conclusion:The Chinese CFCS(Fudan) has good reliability and parallel validity among children with cerebral palsy and PCCD, and can effectively classify the communication function of these children.
  • A systemic report of 1 257 cases of ingested foreign bodies in children
  • REN Lu, GENG Lan-lan, XIAO Wei-qiang, GONG Si-tang
  • 2017 Vol. 12 (5): 333-336.
  • Abstract ( 579 ) PDF (362KB)( 922 )
  • AbstractObjective:To summarize the characteristics and prognosis of digestive tract foreign body in children, thus to provide basis and guidance for future clinical treatment. Methods:A retrospective caseseries analysis was carried out in Guangzhou Women and Children Medical Center. Patients should receive outpatient observation or hospitalization were determined by the types and location of foreign body. The following information was collected by single person whith a data collection form: age, type and location of foreign body, time of swallowing, clinical symptoms, location of taking out the foreign body, treatment, complication and prognosis. Results:A total of 1 257 cases of ingested foreign bodies in children were collected from May 2006 to October 2016, including 845 males, mean of age was 3.0±2.1 years, the time of swallowing was 1.7±1.5 days. Clinical symptoms were reported in 266 cases (21.2%), and there were 210 cases of upper gastrointestinal symptoms (78.9%). Coins were the main proportion about 53.2%, and the rest were batteries, magnets, sharp and irregular foreign bodies. The foreign body staying in the stomach was most common symptom in the outpatient service (40.8%). 215 cases of foreign bodies were discharged automatically, and mean of time was 3.5±2.5 days. In 806 outpatient cases, 185 cases (23.0%) were discharged automatically. In 451 hospitalization patients, 30 cases were discharged automatically (6.6%), 420 cases were discharged by intervention. 230 cases (54.8%) were taken out by esophagoscopy and 169 cases (40.2%) by gastroscope and 21 cases (5.0%) by surgical operation. There were 110 cases of complications occurred in outpatient and hospitalization (8.8%), among them there were 98 cases (86.4%) with mucosal damage, 2 cases with esophageal foreign body died because of gastrointestinal bleeding caused by the simultaneous esophageal perforation and aortic esophageal fistula. Logistic binary regression was used to analyze the prognostic risk factors. It showed that clinical symptoms, location and type of foreign body, treatment was independent risk factor for the prognosis of ingested foreign bodise in children. The incidence of endoscopic (49.2%) and clinical symptoms (32.3%) of long/sharp objects were the highest; The incidence of surgery of magnet was the highest (17.4%); The incidence of complications of button batteries was the highest (25%); The incidence of endoscopic (78%)and clinical symptoms (68.8%)and complications (16.8%) of esophageal foreign body were the highest.Conclusion:The type of foreign body ingested in children is various, and its prognosis is closely related to type and locations of foreign body, clinical symptoms and intervention methods.
  • Blood glucose variability and outcomes in critically ill children
  • DU Yu-hui, LI Jing, LIU Cheng-jun, XU Feng
  • 2017 Vol. 12 (5): 337-341.
  • Abstract ( 355 ) PDF (572KB)( 919 )
  • AbstractObjective:The value of different blood glycaemic variability(GV) indices to predict outcomes was studied in critically ill Children. Methods:The retrospective study was conducted in Critical Care Medicine,Children's Hospital of Chongqing Medical University from January 2016 to December 2016.The included patients were divided into death group and survival group,by comparing the baseline characteristics of study and blood glucose concentration at admission(GLUAdm), average blood glucose(GLUAve), incidence of hyperglycemia, incidence of hypoglycemia,standard deviation(GLUSD), coefficient of variation(GLUCV),mean amplitude of glycaemic excursion(MAGE), and the glycaemic lability index(GLI). It was sought whether there were statistical differences among the 2 groups, and the correlation between different blood glucose indices and PRISMⅢ score was analyzed. ROC(Receiver operating curve) was drawn to evaluate predictive values of different indicators.The best indicator to assess GV was looked for and then the logistic regression analyses were performed to assess the association between GV and ICU mortality.The cases were stratified according to the GLI. Results:① The length of stay,invasive mechanical ventilation, PRISMⅢ score, SD, CV, MAGE, GLI and AVE showed a significant statistical difference between survival group and death group(P<0.05). ② 72 h SD, MAGE, GLI, AVE and PRISMⅢ score had significantly positive correlation(correlation coefficient= 0.202, 0.204, 0.335, 0.281, P<0.05). ③ The area under the curve(AUC) of GLI(0.687, 95%CI: 0.6110.708,P=0.001) was superior to AVE(0.624, 95%CI: 0.5390.708,P=0.003),SD(0.654, 95%CI: 0.5770.730,P<0.001), CV(0.630, 95%CI: 0.5520.708, P=0.002) and MAGE(0.605, 95%CI: 0.5250.686,P=0.012) under the determination of ROC respectivel. ④ Multivariate logistic regression analysis showed that length of stay,invasive mechanical ventilation,PRISMⅢ score and GLI were independently associated with mortality. ⑤ With the GLI increased, the 28day mortality and PRISMⅢ score between subgroup Q3(GLI=1.003.13 mmol2·h-1·d-1) and subgroup Q4(GLI=3.13~12.96 mmol2·h-1·d-1) showed statistical difference(P<0.05), therefore, the GLI below subgroup Q3 should be controlled. Conclusion:GV was significantly associated with ICU mortality, the GLI had the greater superiority in predicting outcome ,to control the GLI below3.13 mmol2·h-1·d-1may be acceptable in critically ill children.
  • Dynamic changes of blood glucose in newborns with gestational diabetes mellitus within 48 hours after birth and the influencing factors of hypoglycemia
  • HUANG Xin-xin, JIANG Xiu-min, LIN Yan, ZHOU Xian-ling
  • 2017 Vol. 12 (5): 342-346.
  • Abstract ( 471 ) PDF (398KB)( 1202 )
  • AbstractObjective:To investigate the changes of blood glucose after birth in infants of diabetic mothers (IDMS), and to analyze the possible influencing factors of hypoglycemia in IDMS, in order to standardize the IDMS monitoring pathway and reduce the incidence of hypoglycemia. Methods:A retrospective cross-sectional study was conducted to examine all GDM parturients who underwent regular birth examination and delivery during the period from January 1st, 2014 to December 31st, 2014 in Fujian Provincial Maternity and Child Care Center (our hospital), maternal and neonatal general clinical data, maternal blood glucose values and blood glucose values at each time point within 48 h after birth were collected in IDMS. The blood sugar value < 2.2 mmol·L-1was considered as neonatal hypoglycemia, and ~2.6 mmol·L-1 critical hypoglycemia. The influencing factors of low blood glucose and critical hypoglycemia of IDMS were analyzed by multifactor non-conditional logistic regression. Results:A total of 1,083 patients were analyzed in this study. ①Among the 1,083 cases of GDM, the maternal age was(30.2 ± 4.2), gestational week (39.1±1.4), 66.8% of the first parturition, 82.4% of the vaginal delivery, and the prepregnancy BMI< 18.5, 4.5%, or 25, 9.8%.Among the 1,083 cases of IDMS, 3.8% of premature infants, 52.5% of men, and Apgar scores were all equal to 8 points and birth weight (3 303.7 + 428.2) g. ②When IDMS were born 0.5 h, average blood glucose decreased significantly, and 2 h rose to 48 h. Maternal prepregnancy BMI18.5~ 24.9, vaginal delivery, full moon, total delivery time of 7 h, evening to night delivery, normal weight of IDMS, and the average peripheral blood glucose at some points of time after birth were relatively high. ③Of the 1 083 cases of IDMS, 7 were hypoglycemic (0.65%), 6 occurred at birth, and 1 occurred at 48 h after birth. The critical hypoglycemia was 29 cases (2.68%), and the 26 cases occurred at the birth and one case each 12, 24 and 48 h after birth respectively. ④Multifactor nonconditional logistic regression showed that high blood glucose level was the protective factor for hypoglycemia and critical hypoglycemia in neonates.Conclusion:The time of hypoglycemia occurred at 48 h after the birth of IDMS, but it could occur any time within 48 h and should be closely monitored. The high blood glucose level of GDM in the end of pregnancy may be a protective factor for hypoglycemia and hypoglycemia in newborns.
  • The application status of continuous blood purification in Chinese pediatric critical care medicine: a cross-sectional survey
  • YANG Xue, QIAN Su-yun, ZHU Yi-min, XU Xuan, LIU Chun-feng, XU Feng, REN Xiao-xu,WANG Ying, ZHANG Yu-cai, LU Guo-ping
  • 2017 Vol. 12 (5): 347-351.
  • Abstract ( 417 ) PDF (1054KB)( 1016 )
  • AbstractObjective:To study the application of continuous blood purification(CBP) in Chinese pediatric critical care medicine from 2012 to 2016. Methods:A questionnaire named Application Status of Continuous Blood Purification Technology in 2012 was revised and perfected according to a crosssectional study. The Chinese Medical Association and Chinese Medical Doctor Association pediatric emergency or critical care unit members were selected as the investigation hospital. The survey contents: ① the nature, size and number of PICU beds of investigative hospitals; ②the implementation of peritoneal dialysis (IPD), hemodialysis (IHD), continuous renal replacement therapy (CRRT), plasma exchange (TPE), hemoperfusion (HP), blood adsorption (PA) and artificial liver support (ALSS); ③ the application in different diseases and the complications of CBP. Participated hospitals received a unified training and then finished filling out the questionnaire. Results:From December 30, 2016 to March 30, 2017, 53/55 hospitals in 39 cities of 28 provinces completed filing out the questionnaires, among which there were 39 pediatric hospital, 14 general hospitals and 49 Thirdlevel gradeA hospitals. All the 53 hospitals had PICU wards, and the average bed number of PICU was 25. 23 hospitals carried out CRRT, with 6 618 cases; 32 hospitals carried out TPE with 2 580 cases; 23 hospitals carried out HP with 2 238 cases; 20 hospitals carried out ALSS with 961 cases. The number of cases using various blood purification techniques showed an increasing trend year by year, while the proportion of IPD showed a downward trend.The implementation of CBP was mainly in ICU in more than 80% hospitals, followed by nephrology. CBP is mainly used in the treatment of sepsis (24.3%), MODS (20.3%), drug poisoning (12.7%) and other diseases.Neonatal CBP has been carried out in 9 hospitals, and 46 neonates received CBP treatment.1 093 children with liver failure were treated with CBP; the survival rates of each model were HP 85.7%, TPE+HP 72%, TPE 70.5%, CRRT 69.8%, TPE+CRRT 50%. The leading complication of CBP included deep vein catheter suction, membrane occlusion and so on.Conclusion:CBP is rapidly popularized in pediatric critical care in China from 2012 to 2016 and widely used in the treatment of sepsis.
  • Singlecentre epidemiology and genotyping of human adenovirus in outpatient children with sporadic diarrhea in Shanghai
  • LU Li-juan, ZHONG Hua-qing, XU Meng-hua, SU Li-yun, CAO Ling-feng, DONG Niu-niu, DONG Zuo-quan, XU Jin
  • 2017 Vol. 12 (5): 352-356.
  • Abstract ( 335 ) PDF (665KB)( 888 )
  • AbstractObjective:To characterize the molecular epidemiology of human adenoviruses (HAdVs) and understand their association with acute diarrhea in outpatient children in Shanghai.Methods:Fecal samples were collected from children under five years who were admitted to Children's Hospital of Fudan University as outpatients and diagnosed as acute diarrhea (Duration of diarrhea ≤14 days) from January 2012 to December 2016. All selected stool samples were subjected to reverse transcriptase PCR (RTPCR) or PCR to detect group A rotavirus (RVA), human calicivirus (HuCV), human astrovirus (HAstV) and HAdV.Results:A total of 1 010 fecal specimens were prospectively enrolled in this study with annual total of 144, 144, 144, 265 and 313 samples collected respectively from 2012 to 2016. Among the enrolled patients, 628 of them were boys and 382 were girls. Among them, 246 individuals aged 0 to 6 months, 578 individuals aged 7 to 12 months, 79 individuals aged 13 to 24 months, 45 individuals aged 25 to 36 months, 18 individuals aged 37 to 48 months and 44 individuals aged 49 to 60 months. ①HAdV infections were detected in 5.2%(53/1010) specimens and the detection rate was 6.9%(10/144), 10.4%(15/144), 5.6%(8/144), 4.5%(12/265) and 2.6%(8/313) respectively from 2012 to 2016. And they did not achieve statistical significance(χ2=13.436,P=0.09). ②There was no significant difference of HAdV detection rate among different gender groups, age groups and each month. ③Of the 53 HAdVpositive samples, 62.3% (33/53) were classified as EAdV including HAdV 41(31/53, 58.5%) and 40 (3.8%, 2/53) while the others were NEAdV including HAdV31 (11.3%), 1 (5.7%), 3 (5.7%), 2(3.8%), 5 (3.8%), 6 (3.8%), 4 (1.9%) and 7 (1.9%). HAdV 41 was the most prevalent HAdV genotype in each year. ④Among the HAdVs positive specimens, 49.1%(26/53) were EAdV monoinfections and 24.5%(13/53) were NEAdV monoinfections while others were mixed infection with other diarrhea viruses. Among the mixedinfection cases, HAdVs mixed with RV (13.2%, 7/53) or NoV (9.4%, 5/53) were the most patterns.Conclusion:These results clearly indicated the high diversity of the HAdVs genotypes detected in outpatient children with acute diarrhea and most of them were HAdV monoinfection cases.
  • Imaging features of 8 cases of congenital portosystemic shunt with gastrointestinal hemorrhage: Case series report
  • JI Min, WU Xian-sheng, GONG Ying, YANG Bin, QIAO Zhong-wei
  • 2017 Vol. 12 (5): 357-361.
  • Abstract ( 494 ) PDF (2136KB)( 941 )
  • AbstractObjective:To describe the imaging features of congenital portosystemic shunt presenting in 8 children with gastrointestinal bleeding.Methods:This retrospective, singlecenter study was approved by our institutional review board. We searched the cases of congenital portosystemic shunt with history of gastrointestinal bleeding in hospital information system of Children's Hospital of Fudan University. All patients' medical records including sex, age, clinical manifestations, CTA and MRA imaging data, and surgical outcome were reviewed. The raw CT data were reconstructed into 1.25mm slice thickness and 0.625mm slice interval, and then were sent into a CT workstation for the postprocessing. Also, the raw MR date were sent into an MR workstation for postprocessing. After the data were postprocessed, all of the images were sent to the Picture Archiving and Communication System and were reviewed by 2 radiologists with more than 10 years experience in pediatric abdominal CT and MR imaging; both radiologists were blinded to the clinical data and identified the main portal vein, intrahepatic portal vein, internal iliac vein and superior rectal vein, as well as the portosystemic shunts. A consensus interpretation of image findings between them was accepted.Results:A total of 8 consecutive cases with the inclusion criteria were included in this study from March 2008 to January 2017. 6 were male, 2 were female, age was ranged from 3 months to10 years. 7 patients presented with lower gastrointestinal bleeding, 1 with hematochezia, 7 patients with anemia. All patients underwent CTA examination, 2 of them underwent MRA examination at the same time. By the time of discharge, 6 cases received surgical treatment, and 2 cases were followed up. All of the 8 cases were congenital extrahepatic portosystemic shunt, 6 were type Abernethy Ⅱ and 2 were type Abernethy Ⅰ. The images of the seven patients with hematochezia showed that the shunts were from the splenomesenteric junction (n=6) or splenic vein (n=1) to the internal iliac vein via an inferior mesenteric vein .One patient with hematemesis showed the shunt from the splenomesenteric junction to the left renal vein via the venae coronaria ventriculi.Conclusion:Most of congenital portosystemic shunt patients with gastrointestinal bleeding had a shunt that drained portal blood into the iliac vein via an inferior mesenteric vein. This type of shunt was not common in congenital portosystemic shunt, but the prevalence of gastrointestinal bleeding in patients with this type was high.
  • Progression to end-stage renal disease during infancy and early child in two children with juvenile nephronophthisis caused by NPHP3 gene mutation and literature review
  • LI Guo-min1), LIU Hai-mei1), CHEN Jing SUN Li CAO Qi SHEN Qian ZHAI Yi-hui WU Bing-bing XU Hong
  • 2017 Vol. 12 (5): 362-367.
  • Abstract ( 833 ) PDF (1062KB)( 1208 )
  • AbstractObjective:To summarize and review the clinical data of two children with juvenile nephronophthisis so as to improve its knowledge.Methods:Clinical data of two cases with juvenile nephronophthisis were summarized, including clinical manifestations, laboratory findings, renal pathological changes and imaging data. This study used next generation sequencing to screen 4 000 genes. Significant variants detected by next generation sequencing were confirmed by conventional Sanger sequencing and segregation analysis was performed using parental DNA samples.Results:Two cases were both male. The age of onset was 3 months and 17 months respectively. The symptoms of jaundice and liver dysfunction were the first symptoms, 2 cases all progressed to ESRD, at the age of 11 and 35 months respectively. 1 case of renal biopsy showed that renal tubulointerstitial inflammation, mild glomerular mesangial proliferation, segmental endothelial cell proliferation, in line with the renal tubules, the change of small lesion, no cyst; liver biopsy showed liver cell diffuse degeneration, interstitial fibrosis, regional bile duct hyperplasia, inflammatory cells infiltration. Family surveys did not identify members with similar diseases. In case 1, there were heterozygous missense mutations in the NPHP3 gene C.2369A>G (p.L790P) and c.1358A>G (p.L453P), and in 2 cases there were c.1174C>T (p.R392X) nonsense mutations and IVS263A>G shear mutations. Family mutation analysis revealed that the above mutations were derived from their parents, and they were complex heterozygous mutations. None of the above mutations was found in 100 normal controls. Both p.L453P and p.L790P missense mutations were predicted to be deleterious mutations by online software PolyPhen and SIFT, and IVS263A>G shear mutations were also predicted to be deleterious mutations by the online software MaxEntScan. None of the above mutations had previously been reported. High throughput sequencing revealed no mutations causing other diseases. A review of the literature found that a total of 18 articles (Chinese 1 article) met the inclusion criteria, in these reported 1 504 cases of sporadic and familial NPNP patients by NPHP3 gene sequencing, NPHP3 gene were found in 79 cases with homozygous or compound heterozygous mutations. Of these 79 cases of patients with NPHP3 mutation, 19 cases in the neonatal period had progressed to ESRD, and needed renal replacement therapy, were often associated with lung hypoplasia, pancreatic cyst, these patients showed less fetal amniotic fluid, bilateral renal enlargement by ultrasound and cystic change. They were usually diagnosed as autosomal recessive polycystic kidney disease. 20 cases (including 2 cases of this study) progressed to ESRD before the age of 5, with abnormal liver function, anemia was the main manifestation, often accompanied by liver fibrosis and bile duct dysplasia. The other 42 cases progressed to ESRD after the age of 5 showed anemia, renal dysfunction, hypertension and renal phenotype. Conclusion: NPHP caused by mutations in NPHP3 gene is not juvenile nephronophthisis in the traditional sense, because NPHP3 patients can progress to endstage renal disease at any age. If infant and early child present with unknown jaundice and abnormal liver function, which may be caused by mutations in NPHP3 gene. c.1358A>G, C.2369A>G and c.1174C>T mutations are novel mutations in this study, they may further expand the NPHP3 gene mutation spectrum.
  • SLC6A1 gene mutation in a child with absence seizures and literature review
  • ZHANG Yun-jian, ZHOU Shui-zhen
  • 2017 Vol. 12 (5): 368-372.
  • Abstract ( 621 ) PDF (2697KB)( 973 )
  • AbstractObjective:To explore the clinical features and genetic characteristics of patients with SLC6A1 gene mutations. Methods:The clinical data of a patient with SLC6A1 gene mutation from Children's hospital of Fudan university were collected. The related literatures were searched from Wanfang Data Service Platform, China National Knowledge Infrastructure, National Center for Biotechnology Information and Pubmed (up to June 2017) by using search terms "SLC6A1" and "epilepsy". The clinical features, electroencephalogram and treatment of the patients with SLC6A1 gene mutations were studied. Results:A boy with absence seizures and psychomotor retardation was followed up whose first attack happened at the age of 3 years. The seizures manifested as absence with eyelid flutter, with no limb convulsions and the duration varied from seconds to dozens of seconds. The seizure frequency ranged from once in several weeks to daily cluster seizures. Electroencephalogram was abnormal because of bursts of generalized 3 to 3.5 Hz spikeandwave activity. Whole exomesequencing study (trios) identified a de novo splicing mutation of c.370+1G>T in SLC6A1. It was not previously reported in public database and predicted deleterious by Mutation Taster. And this was the first case of SLC6A1 gene mutation in China. A total of twelve patients including the present case with SLC6A1 gene mutation were studied. Among them, 11 cases had absence seizures, including 5 typical absence and 5 absences with eyelid myoclonias, the other one case was atypical absence. Ten mutations were identified, including 5 missense mutations, 2 truncated mutations, 1 frameshift mutation, 1 splicing mutation and one with chromosome microdeletion.Conclusion:SLC6A1 gene mutation is one of the causes of absence seizures with mental retardation or developmental regression.
  • PORCN gene mosaic mutation cause focal dermal hypoplasia: A case report and literature review
  • XU Dan-dan, LU Wei, ZHENG Zhang-qian, YANG Lin, WU Bing-bing, LUO Fei-hong
  • 2017 Vol. 12 (5): 373-377.
  • Abstract ( 563 ) PDF (791KB)( 1001 )
  • AbstractObjective:To report one case of male focal dermal hypoplasia (FDH) caused by mosaic mutation of PORCN for clinical diagnosis reference. Methods:The clinical manifestations, laboratory measurements and gene sequencing results were summarized.PORCN mutations from Pubmed, Wanfang Database and China National Knowledge Infrastructure up to September 30th, 2017 were searched, the related features along with the clinical and gene mutation spectrums of the survived FDH male cases were summarized.Results:A 12 years and 2 months old boy with height 142 cm (-1.4 SD) and weight 36.1 kg was referred to our clinic due to short stature. The serum IGF1 level was 323.8 ng·mL-1 and IGFBP3 level was 4.9 μg·mL-1.No abnormalities were found in his pituitary and bilateral testes and adrenal gland. However, typical features were found as short left fourth toe, skin hypopigmentation at his left leg and abdomen along Blaschko line, and fat herniation in buttocks and penis. Bipedal X-ray showed that the 1st, 4th, 5th metatarsal of left foot, left great toe and the 4th phalanges were small, the phalanges of left great toe were short with small end. Six steroid sex hormones were within normal range. WISC-R intellectual test demonstrated that language and total scores are marginally low. Mosaic c.178G> A mutation of PORCN gene was detected by whole exon sequencing and confirmed by Sanger sequencing, then the diagnosis of FDH was made. A total of 205 reported patients confirmed having PORCN mutations were reported in 36 literatures and only 22 were males(3 cases died soon after birth). The most frequently reported symptoms were skin hypoplasia (72.7%),skeletonabnormalities (66.8%) and craniofacial anomalies (58.5%). The survived male patients were all mosaic or postzygotic mosaic mutations except one 46, XXY Klinefelter syndrome whose clinical manifestations showed great heterogeneity but all with skin hypoplasia.Conclusion:The FDH patient we reported not only presented with limb and skin abnormalities, but also with mental retardation. Male patients could be misdiagnosed by Sanger sequencing because of the failure of detection of mosaic mutation and great heterogeneity of clinical manifestations.WES test could significantly improve the positive rate of diagnosis for those suspected male patients.
  • Multi-system pseudohypoaldosteronism type Ⅰ: A case report and literature review
  • ZOU Liang-yan,ZENG Li-chun, JIANG Si-yuan, CHEN Xiang, YANG Lin, ZHOU Wen-hao, CHEN Li-ping, WANG Lai-shuan
  • 2017 Vol. 12 (5): 378-382.
  • Abstract ( 367 ) PDF (1922KB)( 1055 )
  • AbstractObjective:To report a neonate diagnosed as multisystem pseudohypoaldosteronism typeⅠ(PHAⅠ)caused by SCNN1A gene heterozygous mutation,provide the basis for early diagnosis and clinical decisionmaking of PHAⅠ. Methods:Analysis was performed on clinical manifestation,imageological examination,parental sanger test and treatment process of a patient carrying a pair of compound heterozygous mutaions of SCNN1A,and literatures about clinical features of PHAⅠ. Results:A 17dayold boy presented with electrolyte disturbances including hyponatremia,hyperkalemia, and metabolic acidosis for 6 days. The effects of sodium supplement, hydrocortisone and insulin were not satisfactory.A pair of compound heterozygous mutations of SCNN1A was found by WES. c.1439+1G>C was from father and had reported as a pathogenic mutation of PHAⅠ by HGMD,while c.104delC(p.P35LfsTer14) was a novel deletion mutation from mother.The patient was finally diagnosed as multisystem PHAⅠ. The children's parents gave up to treat with oral potassium lowering resin, and the children died the fourth days after discharge. Databases were searched including PubMed, CNKI, Wan Fang Database, China Science and Technology Database and CBMdisc,which described the multisystem PHAⅠfrom databasebuiding time to September 4,2017. A total of 14 articles (13 English, 1 Chinese) were screened out. Renal manifestations were found in all 34 cases. Except 3 cases of SCNN1A and 1 case of SCNN1G did not mention multisystem manifestations, the remaining cases reported dehydration and respiratory changes were the most commom manifestations,followed by stunted growth and digestive manifestations.4 cases died of cardiac arrest caused by hyperkalemia, all of them were SCNN1A mutations, except our study with heterozygous mutation the rest were homozygous mutations.Conclusion:Pseudohypoaldosteronism should be considered when lasted intractable hyperkalemia, hyponatremia and metabolic acidosis happened. Neonatal gene sequencing can help diagnosis.
  • Experimental study of the epitope peptide vaccine against the structural protein VP1 of enterovirus 71 strain
  • XIANG Yun-feng, SONG Hui-ling, GOU En-jin, LI Qing, GU Sheng-li, HAN Yun, TANG Zheng-zhen, HUANG Bo
  • 2017 Vol. 12 (5): 383-387.
  • Abstract ( 386 ) PDF (2380KB)( 931 )
  • AbstractObjective:To make the epitope peptide vaccine by using the structural protein VP1 of enterovirus 71 (EV71) strain isolated from Guizhou area and investigate the immune protective effects on mice. Methods:The VP1 amino acid sequences of 17 EV71 strains isolated from throat swab samples of children patients with handfootmouth disease between March 1, 2013 and December 31, 2015 in Guizhou area were consistent(a total of 297 amino acids). Peptide fragments were designed and synthesized by using the amino acid sequence, that the last one was 27 amino acids, the others were 20 amino acids. The epitope peptide vaccine was made by using the polypeptide fragments with better immunogenicity, which was screened out by indirect ELISA method and IgG positive serum of children who recovered from EV71 infection. Then the epitope peptide vaccine was used to protect healthy ICR female rats and the control group was set that female rats weren't inoculated (con). The neonatal rats were randomly divided into 2 subgroups of injected and non injected EV71 virus. The mice were killed 2 days after injection of the virus, then the tissue was harvested from the skeletal muscle, the small intestine and brain of all neonatal rats which was used to check EV71 virus by RTPCR and agarose gel electrophoresis and observed the pathological lesion by H&E.Results:3 peptide vaccines were made by using polypeptide fragments with better immunogenicity screened from 19 segments polypeptide fragments with cross sequences. The female mice were immunized by using the peptide vaccines and the subsequent experiments were carried out in neonatal rats. RTPCR results showed that EV71 virus could be detected in infected groups, could not be detected in uninfected groups. The pathological lesion showed that skeletal muscle, intestine and brain tissue had obvious inflammatory changes in the neonatal rats infected with EV71 virus but the female mice weren't immunized. Inflammatory changes were significantly alleviated in the neonatal rats infected with EV71 virus and the female mice were immunized, there was no significant difference in each tissue between the three vaccinated groups. No obvious inflammatory lesion was found in each tissue of the neonatal rats which didn't infected with EV71 virus and the female mice were immunized. Conclusion:In our study, VP1 epitope peptide vaccine was successfully prepared, and its efficacy and safety were confirmed in animal experiments, it can provide methodological reference for the development of related vaccines in the future.