OBJECTIVE: To explore the diagnosis, treatment and genetic characteristics of a neonate with severe pulmonary hypertension and respiratory failure. METHODS: Perinatal history, clinical manifestations, laboratory finding and diagnosis and treatment data of the child were collected. Whole exome sequencing was carried out for the child, and Sanger sequencing was used to verify the candidate variants. RESULTS: The female neonate has developed progressive respiratory failure and refractory pulmonary hypertension shortly after birth. Conventional treatment such as mechanical ventilation, vasoactive drugs, and inhaled nitric oxide were ineffective. She has developed sustained pulmonary hypertension after weaning from extracorporeal membrane oxygenation therapy, and had died after the treatment had ceased. Whole exome sequencing revealed that she has harbored a heterozygous de novo variant of c.682_683insGCGGCGGC (p.G234Rfs*148) of the FOXF1 gene, which was predicted as pathogenic based on guidelines from the American College of Medical Genetics and Genomics (ACMG), with evidence items of PVS1_Strong+PM2_Supporting+PS2. Based on her clinical manifestations and result of genetic testing, the child was diagnosed with alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV). CONCLUSION Discovery of the c.682_683insGCGGCGGC (p.G234 Rfs*148) variant of the FOXF1 gene has expanded the mutational spectrum of the FOXF1 gene, which has facilitated implementation of specific treatment and provided a basis for clinical diagnosis and genetic counseling.
Female ; Humans ; Child ; Infant, Newborn ; Pregnancy ; Persistent Fetal Circulation Syndrome/therapy* ; Hypertension, Pulmonary ; Pulmonary Veins ; Forkhead Transcription Factors/genetics*

Objective:To investigate the predictive value of mucosal vascular pattern (MVP) under narrow-band imaging (NBI) enteroscopy in patients with ulcerative colitis (UC) in clinical remission for histological healing and clinical recurrence.Methods:A total of 142 patients with UC in clinical remission who visited the First Affiliated Hospital of Weifang Medical University from January 2018 to January 2021 were included in the study and underwent colonoscopy. The white light and NBI endoscopic images were collected and biopsies were obtained. The Mayo endoscopic score (MES) was calculated based on white light images, and MVP staging was evaluated based on mucosal vascular patterns under NBI. Nancy index (NI) was used to evaluate histological healing and patients were followed up for 1 year. The Spearman correlation coefficients of MES and MVP with histological healing and recurrence were calculated. The receiver operator characteristic (ROC) curve was plotted and the area under curve (AUC) was applied to evaluate the accuracy of white light and NBI endoscopy for predicting histological healing of UC in clinical remission.Results:According to the MVP criteria, 47 were defined as clear, 63 blurred, and 32 invisible. Spearman correlation analysis showed a significant correlation between MVP under NBI and histological healing ( r=0.549, P<0.001) and a moderate correlation between MES under white light and histological healing ( r=0.462, P<0.001). Spearman correlation analysis showed a moderate correlation between MVP under NBI and clinical recurrence ( r=0.451, P<0.001) and a moderate correlation between MES under white light and clinical recurrence ( r=0.352, P<0.001). AUC of NBI for diagnosing histological healing of UC in clinical remission was 0.809 (95% CI: 0.738-0.879), with a sensitivity of 84.6% (77/91) and specificity of 64.7% (33/51), superior to the white light endoscopy, of which AUC, sensitivity and specificity were 0.763 (95% CI: 0.678-0.848), 81.3% (74/91) and 66.7% (34/51). Conclusion:MVP staging under NBI could predict histological healing of UC patients in clinical remission and is superior to white light endoscopy.

Objective To study the clinical effects of continuous blood purification (CBP) in the treatment of newborns with severe sepsis and multiple organ dysfunction syndrome (MODS). Method From May 2013 to November 2018, the clinical data of infants with severe sepsis and MODS receiving CBP in the neonatal department of our hospital were retrospectively analysed. Changes of blood pressure, arterial partial pressure of oxygen/inhaled oxygen concentration (PaO2/FiO2), pH, serum potassium, sodium, urea nitrogen, creatinine, urine volume and maintenance dose of adrenaline at different time points before and after CBP were analysed. Result According to the inclusion and exclusion criteria, a total of 8 newborns with sepsis and MODS were enrolled in the study. One patient had the complication of perforated colon, and the other one had acute renal failure. The number of affected organs in these infants was 3～5. Six cases began CBP treatment within 1～5 days after admission, and the other two cases began CBP treatment on the 38th and 47th days after admission. The average treatment duration was (58.6±25.9) h. The effective rate of CBP in the treatment of severe sepsis with MODS was 75.0％(6/8). Blood pressure was increased at 6 h, 12 h, 24 h and 48 h after treatment and at the end of treatment. PaO2/FiO2 and blood pH were increased. The urine volume was increased at 24 h and 48 h after treatment and at the end of treatment (P<0.05). Serum potassium, urea nitrogen and creatinine were significantly decreased (P<0.05). The maintenance dose of adrenaline was also decreased significantly at 12 h after CBP (P<0.05), and withdrawn at 48 h after treatment. Only one case experienced membrane blockage during CBP. Dialysis was continued after the replacement of filtration membrane. No other complications existed. Conclusion CBP is effective in the treatment of neonatal severe sepsis with MODS. It can improve the circulation and renal function.

Objective To explore the efficacy and safety of systemic mild hypothermia in management of neonates with moderate or severe hypoxic-ischemic encephalopathy (HIE).Methods A retrospective case-control study was conducted on 75 neonates with moderate or severe HIE,who were admitted to the Neonatal Intensive Care Unit of Teaching Hospital of Fujian Medical University (Quanzhou Children's Hospital) from January 1,2011 to May 31,2015.The 75 neonates were divided into two groups,the conventional treatment group (33 cases,control group) and the mild hypothermia treatment group (42 cases,hypothermia group).Sequential management protocol for all subjects was followed,including amplitude-integrated electroencephalogram (aEEG) before treatment,aEEG and brain MRI at one week after birth,neonatal behavioral neurological assessment (NBNA) on the 14th day after birth,and determination of mental and psychomotor development index with Bayley Scales of Infant and Toddler Developmental at 18 months old.Adverse reactions,serious disability cases and deaths during the study were also recorded.Two sample-t test and Chi-square test were as statistical methods.Results There were six death cases in the control group,but on one died in the hypothermia group.In the survivals,The maximum voltage and minimum voltage in the hypothermia group were higher at 7-day old than that before treatment [maximum voltage:(31.3 ±2.4) vs (18.1± 2.2) μ V;minimum voltage:(13.5±2.1) vs (6.1 ±1.5) μ V,t=8.591 and 5.314,both P ＜ 0.05],and also higher than that of control group [(25.2±3.1) and (9.3±3.1) μV,respectively,both P ≤ 0.05].Compared with the control group,there were more babies with normal head MRI [43％(18/42) vs 18％(6/33),x2=4.814,P ≤ 0.05] in the hypothermia group at 7-day old and less cases of severe disability [21％(9/42) vs 45％(15/33),x2=4.902,P ≤ 0.05] and deaths [0％(0/42) vs 18％(6/33),x2=6.098,P ≤ 0.05].Higher NBNA score at 14 day and Bayley developmental index at 18 months were shown in the hypothermia group than in the control (39.4±2.6 vs 35.3 ±2.4,t=3.316;mental development index:96.3± 13.2 vs 84.3 ± 10.6,t=7.893;psychomotor development index:98.2 ±16.8 vs 85.4±13.2,t=8.753,all P ≤ 0.05).The adverse effects of hypothermia treatment included electrolyte imbalance (n=12),abnormal blood glucose level (n=8),hepatic and renal dysfunction (n=7),infections (n=6) and bradycardiac (n=4),and no cold injury syndrome case was reported.However,none of the above had significant difference compared with the control group (P ＞ 0.05).Conclusions Systemic mild hypothermia treatment is effective in reducing mortality rate and major disability rate in neonates with moderate or severe HIE and improves the neuromotor development when babies grow up to 18-month-old.

Objective: The mobile medical collaborative service platform can realize mobile nursing informatization, which will bring new changes to the nursing work, and work flow is optimized. The construction of mobile nursing system is the trend of development in informatization, in order to better service to patients, realize full nursing work informatization. Methods: Based on wireless dynamic environment, and three subsystems including nursing collaboration portal, intelligent mobile terminal application system, the message engine service system, it adopts hierarchical architecture design, based on SOA structure mode, whose modules are loosely coupled, and platform core includes: the message engine subsystem, the medical task analysis engine subsystem, WEB middleware subsystem and the client subsystem,in order to realize the service management of mobile medical collaboration. Results: According to the actual situation of nursing work in hospitals, construction of mobile nursing system by the stage of application, to meet the core work of nursing, and then realize the basic nursing work, the construction of digital implementation of nursing information, to realize the informatization construction of digital care. Conclusion: Application of the system to achieve the whole informatization of the nursing management, through access to health services, cloud services center, to share resources, to achieve full coverage of all aspects of smart care management for people's health to provide effective protection.

Objective: To achieve intelligent access to normal training or individual soldier signs information during the war, establish individual soldier health intelligent interactive regulation and health system platform of IOT, realized digitalization, information management mode. Methods: Using the communication network, intelligent call, vital signs monitoring technology, to design intelligent signs monitoring system. Results:This system is mainly for the automatic sense of individual signs in the training or war, to understand the individual activity, get the sign data, which can send information through a call or intelligent system, based on the identification and location, medical personnel to care and treatment in the shortest time, construction of intelligent information. Conclusion: Through the use of intelligent detection system to Individual life signs in training or in wartime, the system can always grasp of individual soldier signs, and realizing a complete coverage of all of the intelligent health monitoring system, to provide effective guarantee for wartime workers health.

Objective: To design device to measure D/T index which is used for evaluation of arteriosclerosis. Methods:By calculating the detected date of blood pressure values, pulse pressure, pulse rate, pulse patterns and SpO2 on the extremities, we get a set of analytical data in the system in order to analyze the arteriosclerosis situations. Results: The device use the ECG signal as it based and modulated signal, the computer process the date of blood pressure and SpO2, then output the result by the display and printing systems. Conclusion:The device provides an effective noninvasive detection means for extremity vascular.

Objecfive To study the influence of edaravone therapy on semm levels of neuronspecific enolase (NSE)in the patients of severe brain trauma and assess the therapic effect of edaravone.Method Sixty patients of severe brain trauma were randomly assigned into the treatment group(n=30)and the control group(n=30).Besides the routine treatment in both groups.edaravone Was only used in the treatment group.NSE levels were measured in the two groups before treatment and at 1st,3rd,5th,7th day after treatment.Results NSE levels before treatment in treatment group and control group were(48.73±30.46)μg/L and (40.86±22.05)μg/L,respectively,there Was no statistical significance between two groups.NSE levels after treatment at 3rd,5th,7th day in the two groups were(34.16±15.08),(29.86±12.61),(29.93±14.77)μg/L and (27.42±10.07),(22.33±8.93),(21.17±9.67)μg/L,respectively,there were statistical significances between two groups and in the same group (P＜ 0.05 or ＜ 0.01 ). With the time of therapy extended,NSE levels declined progressively. There were no significant adverse drug reactions during the treatment period. Conclusions The influence of edaravone therapy on serum levels of NSE in the patients of severe brain trauma is significant,edaravone for patients with severe brain trauma has a better curative effect ,medication safety,and fewer adverse drug reactions during acute phase.

Objective To study curative effect of edaravone on acute severe brain injury through the observation of neuron-specific enolase( that is:NSE) changes.Methods 60 severe brain injury patients were randomly assigned into the treatment group (n=30 ) and the control group (n=30).Besides the routine treatment,edaravone was used in the treatment group for 7 days.The control group received the same treatment except edaravone.NSE were measured in the two groups before the treatment and at 1st,3rd,5th,7th day after the treatment.GCS was evaluated at 21 days.Results Compared the NSE before treatment and after three days,they had significant difference(P＜0.05,also between the two groups and the GCS after 21 days.they had no significant adverse drug reactions during the two groups of patients with medication.Conclusion Edaravone for patients with severe brain injury has a better treatment effect,medication safety,fewer adverse reactions from the mechanism of NSE at acute phase.

Accompanied with the application of CT,MRI and DSA in hospital,the digital radiography is gradually instead of the general radiography.The digital radiography system is more advantage in the field of the image collection,display,procession,management and transmission compared with the general radiography.