The frequency of inducible nitric oxide synthase (iNOS) gene (CCTTT) 14 allele was significantly lower in diabetic nephropathy group (0.044) than that in diabetics without nephropathy (0.170, P

Objective To observe the clinical effects of new ventral moxibustion box in treating primary dysmenorrhea of the type of congealing cold blood stasis. Methods 158 patients of primary dysmenorrhea of the type of congealing cold blood stasis were randomized into new ventral moxibustion box treatment group(56 patients),traditional moxibustion box treatment group(52patients)and control group (50patients). The control group was treated by conventional treatment, and the other two groups were treated by new ventral moxibustion box and traditional moxibustion box. The therapeutic effects were compared after treatment. Results After treatment,the cure rate of new ventral moxibustion box treatment group was 35.71%, the cure rate of traditional moxibustion box treatment group are 34.61%,both were better than18.00%of the control group with statistical significance(χ2=4.17, 3.62, P<0.05). The total effective rate of new ventral moxibustion box treatment group was 92.86%, the total effective rate of traditional moxibustion box treatment group was 90.38%,both were better than 70.00%of the control group with statistical significance(χ2=9.38, 6.72, P<0.01). The safety rate of new ventral moxibustion box treatment group was better than the control group(χ2=5.91, P<0.05). Conclusion The new ventral moxibustion box can not only improve the curative effect of primary dysmenorrhea of the type of congealing cold blood stasis,but also can improve the safety rate in treating primary dysmenorrhea.

Objective:To investigate the clinical and genetic features of 3-methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome(MEGDHEL syndrome) caused by SERAC1 gene variation. Methods:This study retrospectively described the clinical and molecular features and prognosis of a baby boy who was transferred to Children's Hospital of Fudan University and later diagnosed with MEGDHEL syndrome in August 2016. A summary of the clinical and genetic manifestations of MEGDHEL syndrome cases reported in China and foreign areas was conducted through a literature review.Results:(1) Case report: The 2-day-old patient was transferred to Children's Hospital of Fudan University due to hyperlactic acidemia after birth. Physical examination revealed scattered petechiae and ecchymoses of the skin. Laboratory examination showed coagulation disorders and cranial MRI revealed abnormal signals in both basal ganglia. A homozygous variation of c.442C>T(p.Arg148*) in the SERAC1 gene was detected in the patient, which is a pathogenic variant included in the Human Gene Mutation Database. Both of his parents were heterozygous carriers, thereby the diagnosis of MEGDHEL syndrome was confirmed. Followed up to the age of three years and 11 months, he was found to have psychomotor retardation, spasticity, dystonia, deafness, and loss of language ability. (2)Literature review: Together with the case reported in this study, a total of 88 cases were retrieved, involving 57 different variants. The clinical features were homogenous, with onset mostly in the neonatal period (72%, 62/86), and severe reversible liver dysfunction (49%, 38/77) and neonatal hypoglycemia (44%, 35/80) were the main features. Nervous system was affected since infancy and common symptoms, included hypotonia (86%, 68/79), progressive spasticity (82%, 67/82), dystonia (80%, 66/82), intellectual disability (88%, 58/66) and sensorineural hearing impairment (74%, 59/80). Furthermore, bilateral basal ganglia involvement on cranial MRI (93%,70/75) and 3-methylglutaconic aciduria (98%,80/82) were also seen. Supportive care is currently the main management, however, the prognosis is extremely poor. Conclusions:MEGDHEL syndrome should be highly suspected when reversible neonatal liver dysfunction or hypoglycemia of unknown reasons in neonatal period, followed by progressive deafness-dystonia syndrome in infancy. As the prognosis of these patients is usually poor, genetic testing may provide an early diagnosis in neonatal period.

Objective: To investigate the effect of red blood cell transfusion on the oxygenation of mesenteric tissue in premature infants. Methods: In this prospective cohort study, preterm infants with gestational age <37 weeks who were treated with red blood cell transfusions were enrolled from June 2017 to March 2018 in Department of Neonatology, Children's Hospital of Fudan University. The infants were categorized into feeding intolerance group and feeding tolerance group according to the feeding intolerance standard. Near-infrared spectroscopy was applied to continuously monitor intestinal oxygen saturation from 2 h before red blood cell transfusion to 48 h after red blood cell transfusion. Intergroup differences of basic conditions were analyzed with t test, Mann-Whitney U test and χ² test. Mixed linear model was used to compare intragroup and intergroup differences in intestinal oxygen saturation over time. Results: A total of 73 cases with gestational age <37 weeks were enrolled, of whom 41 were males and 32 were females, with mean gestational age of (30±4)weeks and mean birth weight of (1 543±688)g; there were 33 cases in feeding intolerance group and 42 cases in feeding tolerance group. The average intestinal oxygen saturations at 2 h before blood transfusion, during blood transfusion, 2, 6, 12, 24, and 48 h after transfusion were 0.50±0.07, 0.52±0.07, 0.52±0.08, 0.51±0.08, 0.51±0.07, 0.51±0.08, and 0.51±0.07 respectively in feeding intolerance group and were 0.51±0.04, 0.55±0.04, 0.57±0.05, 0.57±0.04, 0.56±0.04, 0.56±0.04, and 0.56±0.05 respectively in feeding tolerance group. Compared with 2 h before transfusion, intestinal oxygen saturation were increased during transfusion in both group (feeding intolerance group t=4.992, P=0.000; feeding tolerance group t=9.615, P=0.000), however this effect lasted until 48 h after transfusion in feeding tolerance group (t=5.519, 12.409, 10.033, 9.133, 7.983, all P=0.000). Additionally, the increasement of intestinal oxygen saturation over time were lower in feeding intolerance group(F=8.876, P=0.000). Besides, the level of intestinal oxygen saturation was positively correlated with postmenstrual age (PMA)(F=4.863, P=0.031). In infants with PMA<30 weeks, particularly in feeding intolerance group, the level of intestinal oxygen saturation significantly decreased at 2 h after transfusion (t=23.063, P=0.002). Conclusions: Feeding status and PMA may play a role in development of transfusion-associated necrotizing enterocolitis. Red blood cell transfusion may increase the risk for mesenteric ischemia and is more likely to cause necrotizing enterocolitis in preterm infants with PMA <30 weeks as well as feeding intolerance. Clinical Trail Children's Hospital of Fudan University, NCT02544100.

Objective To analyze the changes in cerebral oxygen saturation( CrSO2 )and cerebral fractional oxygen extraction ratio(CFOE)before,during and after red blood cell(RBC)transfusion in premature infants,and to explore the effect of RBC transfusion on the cerebral tissue oxygenation in premature infants. Methods The preterm infants With gestational age﹤37 Weeks Who Were treated With RBC transfusion Were selected from September 2017 to March 2018 in Neonatal Department of Children＇s Hospital of Fudan University. Near－infrared spectroscopy( NIRS) Was applied to continuously monitor CrSO2 from 2 h before RBC transfusion to 24 h after RBC transfusion. Transcuta﹣neous arterial oxygen saturation(TcSaO2 ),heart rate(HR)and blood pressure(BP)Were synchronously measured by using multi－function monitor. CFOE could be calculated based on the monitored TcSaO2 . Results A total of 71 cases Were included in the study,39 males and 32 females,With a medium gestational age of 29(24－37)Weeks,a mean birth Weight of 2 195(710－3 950)g,17 cases in moderate anemia group and 54 cases in severe anemia group. Compared With the data 2 h before transfusion,CrSO2 increased( t ﹦9. 536,P﹤0. 001),While CFOE decreased( t ﹦ －8. 688,P ﹤0. 001)during transfusion in the Whole study population. The CrSO2 at 2 h before blood transfusion,during blood transfu﹣sion,2,6,12 and 24 h after transfusion Were 0. 579 ± 0. 037,0. 591 ± 0. 032,0. 599 ± 0. 035,0. 596 ± 0. 035,0. 595 ± 0. 027,0. 585 ± 0. 022,respectively in moderate anemia group and Were 0. 571 ± 0. 038,0. 592 ± 0. 039,0. 605 ± 0. 038, 0. 603 ± 0. 035,0. 596 ± 0. 032,0. 596 ± 0. 032,respectively in severe anemia group. The CFOE at 2 h before blood trans﹣fusion,during blood transfusion,2,6,12 and 24 h after transfusion Were 0. 40 ± 0. 04,0. 38 ± 0. 03,0. 37 ± 0. 04,0. 38 ± 0. 04,0. 38 ± 0. 03,0. 38 ± 0. 03,respectively in moderate anemia group and Were 0. 42 ± 0. 04,0. 39 ± 0. 04,0. 38 ± 0. 04, 0. 38 ± 0. 04,0. 39 ± 0. 03,0. 39 ± 0. 03,respectively in severe anemia group. CrSO2 increased(t﹦3. 874,P﹤0. 05), While CFOE decreased(t﹦ －4. 091,P﹤0. 05)at 2 h after transfusion in moderate anemia group. In severe anemia group,CrSO2 significantly increased( t ﹦9. 221,P ﹤0. 001),While CFOE significantly decreased( t ﹦ －8. 583,P ﹤0. 001)during transfusion,and this effect lasted until 2 h after transfusion(t﹦5. 926,－5. 556,P﹤0. 001). Compared With the data 2 h before transfusion,CrSO2 Was significantly increased(t﹦6. 894,P﹤0. 001),While CFOE Was signifi﹣cantly decreased(t﹦ －8. 536,P﹤0. 001)at 24 h after transfusion in severe anemia group. HoWever,there Was no signi﹣ ficant difference in CrSO2 and CFOE betWeen the 24 h after transfusion and 2 h before in the moderate anemia group. Conclusions RBC transfusion improves cerebral tissue oxygenation,and severe anemia group benefit more from blood transfusion. Cerebral oxygenation monitoring With NIRS monitor may provide neW insights for the clinical management of RBC transfusion in preterm infants.

Objective: To understand the prevalence of low vision among Tujia and Han children and adolescents in Tujia inhabited areas, and to provide reference for the prevention and control of myopia in children and adolescents in minority areas. Methods: A cluster sampling of Tujia and Han primary school students from two primary schools in Lichuan City, Enshi Tujia and Miao Autonomous Prefecture, Hubei Province (2 466 Tujia and 971 Han) were selected for visual acuity assessment. Univariate χ 2 test and multivariate Logistic analysis were used. Low vision and associated factors between Tujia and Han nationality were compared. Results: The overall detection rate of low vision among children and adolescents in Tujia inhabited areas was 44.9%. There were differences in the degree of low vision in the left and right eyes of individuals, and the detection rate of low vision varied significantly by ethnic, gender and grade ( χ 2=22.10, 18.43, 19.06, 17.97 for the left eye, 17.52, 20.44, 21.49, 18.61 for the right eye, P < 0.05). There were many factors affecting low vision among children and adolescents in Tujia inhabited areas, overweight and obesity were negatively associated with low vision ( OR=1.81, 1.70, 95%CI=1.76-1.92, 1.66-1.82, P <0.01). Conclusion Low vision is highly prevalent in Tujia children and adolescents. Effective intervention measures should be taken to treat and prevent myopia in children and adolescents.

Objective: To understand physical activity status of children and adolescents in Tujia inhabited areas, and to provide reference for the intervention model of physical activity of children and adolescents in minority areas. Methods: A cluster sample of 2 466 Tujia pupils from two primary schools in Lichuan City, Enshi Tujia and Miao Autonomous Prefecture of Hubei Province was selected to investigate physical activity status of Tujia pupils. The univariate χ 2 test was used to analyze the physical activity status of Tujia children and adolescents and its influencing factors. Results: The median duration of high intensity activity was 49.9 minutes/day in the last week, and 47.93% of participants met the physical activity standard( χ 2=80.47, P <0.01), the median duration of sitting was 396.1 minutes/day in the last week, and the qualified rate of screen time was 78.99%, and the differences of qualified rate between daystudents and residential students were of statistical differences( χ 2=35.12, P <0.01)). Conclusion The children and adolescents in the Tujia community are lack of physical activity. Therefore, it is necessary to take effective intervention measures to pay attention to the children and adolescents physical activity.

Objective:To preliminarily assess the clinical value of sirolimus combined with prednisone in the treatment of Kaposiform hemangioendothelioma (KHE) complicated by Kasabach-Merritt phenomenon (KMP) .Methods:A retrospective study was conducted. General clinical data and relevant data on efficacy and adverse reactions were collected from 36 patients with KHE complicated by KMP, who received oral sirolimus combined with prednisone in Department of Pediatric Surgery, West China Hospital, Sichuan University from January 2011 to January 2018.Results:Among the 36 patients with KHE complicated by KMP, the male-to-female ratio was 1∶0.8; their average age was 15.0 months (range, 4.0 - 60.0 months) , and the average age of onset was 6.3 months (range, 0.8 - 48.0 months) ; 32 (88.9%) patients were diagnosed with mixed KHE, and 4 (11.1%) with deep KHE; the tumor size ranged from 2.5 cm × 4.0 cm to 20.0 cm × 24.0 cm. During the combined treatment, the average duration of prednisone administration was 6.4 weeks (range, 5.0 - 9.0 weeks) , and that of sirolimus administration was 19.3 months (range, 13.0 - 27.0 months) . After 1-5 weeks of combined treatment, platelet counts and fibrinogen levels of the 36 patients gradually returned to normal. After short-term prednisone combined with long-term sirolimus treatment, the average disease severity score decreased from 4.0 before treatment to 2.4 at 6 months and 1.6 at 12 months. After 12 months of the combined treatment, tumors mostly regressed in 32 (88.9%) patients, partially regressed in 3 (8.3%) , showed no obvious change in 1 (2.8%) . During the treatment, common adverse reactions included gastrointestinal discomfort and oral ulcers, no patient discontinued the treatment due to severe adverse reactions, and no drug toxicity-related death occurred.Conclusion:Sirolimus combined with prednisone is effective and safe for the treatment of KHE complicated by KMP.

Objective:To study the characteristics of video electroencephalogram (VEEG) and cranial magnetic resonance imaging (MRI) in neonates with inborn errors of metabolism (IEM) and to determine the predictive value for prognostic.Method:From June 2016 to December 2018, a retrospective study was performed on newborns diagnosed with IEM receiving VEEG examinations at the Neonatology Department of our hospital. VEEG and cranial MRI were used as prognostic indicators and the follow-up results were used as criteria predicting the accuracy of prognosis. The accuracy of the prediction was calculated using a 4 × 4 table.Result:A total of 21 eligible cases with 14 types of IEM were included. The most common type of IEM was organic acidemia (47.6%, 10/21). 16 cases (76.2%) had abnormal VEEG background patterns, including 8 cases of organic acidemia, 3 cases of urea cycle disorders, 1 case of energy metabolism disorder and 4 cases of other IEMs. No significant differences existed in the abnormality rate of VEEG background patterns among these groups ( P=0.882). VEEG showed 3 cases of seizures including 2 cases of electrographic-only seizures. Interburst interval durations were shortened on VEEG background with the decrease of blood ammonia level. The positive predictive values of the moderate-to-severe abnormal VEEG background and the presence of major cerebral lesions on MRI in predicting poor prognosis were 90.0% (95% CI 55.5%~99.7%) and 100% (95% CI 66.4%~100%), respectively, and the negative predictive values were 50.0% (95% CI 18.7%~81.3%) and 85.7% (95% CI 42.1%~99.6%), respectively. Conclusion:Neonates with IEM have higher incidences of abnormal VEEG. Continuous VEEG may accurately diagnose neonatal seizures and effectively monitor brain function. VEEG is a useful tool monitoring infants with IEM and predicting adverse outcomes, especially when used in combination with brain MRI.

Objective: To investigate the clinical symptoms, treatment intervention and prognosis of Kaposiform lymphangiomatosis(KLA). Methods: Medical information and clinical characteristics data of 8 KLA patients who were admitted to Department of Pediatric Surgery of West China Hospital of Sichuan University from January 2016 to February 2019 were retrospectively reviewed and analyzed. There were 5 males and 3 females with age of 5.8 years old (from 8 months to 29 years old). Results: The lesions in all patients were diffusely distributed. In all 8 patients, the lung and mediastinum were involved with different degrees. Three cases had lesions involving pelvic and abdominal organs. Three cases had lesions involving bones. One case simultaneously involved pelvic and abdominal organs, and 1 case was involved laryngeal and neck. The clinical characteristics were mainly respiratory symptoms. In the laboratory tests, 6 patients had different degrees of thrombocytopenia (minimum 3 × 10⁹/L), and 4 patients had severe fibrinogen reduction (minimum 0.42 g/L). Three patients had prolonged activated partial thromboplastin time (up to 64.2 seconds) and 3 patients had prolonged prothrombin time (up to 18.6 seconds). After surgery (including thoracotomy, chest tube, pericardiocentesis, splenectomy) and empiric medicine therapy (vincristine, sirolimus and corticosteroid), the symptoms improved in 1 case, 2 cases died of complications, 2 cases were stable and 3 cases progressed up to February 2019. Conclusions KLA is a rare disease that should be differentiated from other types of vascular diseases. Currently, there is no consensus treatment guidelines exist. Accurate diagnosis in KLA can be a challenge. The situation in patients with KLA is prone to rapid deterioration and progress. Future research efforts should seek to develop target-specific drugs for KLA.