22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder. Its phenotype is highly variable with incomplete penetrance. 22q11.2DS is a rare disease, and the research progress is relatively slow, which has restricted its treatment and intervention. In recent years, much progress has been made in the pathogenic mechanism and genome-wide association study of 22q11.2DS. In this review, the pathogenesis of 22q11.2DS was summarized. Thereafter, the molecular and pathological mechanisms of TBX1 and DGCR8 genes were clarified. Finally, factors affecting the penetrance of cardiac and immune system phenotypes were reviewed. This review may enhance the understanding of 22q11.2DS and has important clinical implications on the prenatal diagnosis, genetic counseling, treatment and intervention of this disease.

Objective:To identify the risk factors for acute lung injury (ALI) after pediatric living donor liver transplantation (LDLT) and evaluate the predictive value.Methods:The pediatric patients (all diagnosed with congenital biliary atresia) who underwent parental liver transplantation in our center from January to December 2021 were selected. Perioperative data were obtained through the electronic medical record system, and the pediatric patients were divided into non-ALI group and ALI group according to whether ALI occurred or not at 1 week after surgery. The factors of which P values were less than 0.05 between groups would enter the multivariate logistic regression analysis to stratify the risk factors for ALI after pediatric LDLT, and the value of the risk factors in predicting intraoperative ALI was evaluated using the receiver operating characteristic curve. Results:A total of 140 pediatric patients were enrolled in the analysis, and the incidence of ALI was 30.7%. The results of the multivariate logistic regression analysis showed that preoperative pediatric end-stage liver disease score, preoperative serum NT-pro-BNP concentrations, intraoperative volume of fluid transfused, and duration of postreperfusion syndrome were independent risk factors for ALI after LDLT in pediatric patients ( P<0.05). The area under the receiver operating characteristic curve of the preoperative N-terminal pro-brain natriuretic peptide(NT-pro-BNP) concentration in predicting postoperative ALI was 0.737 ( P<0.001), with a cutoff value of 222.1 ng/L, sensitivity of 0.628, and specificity of 0.732. Conclusions:Preoperative pediatric end-stage liver disease score, serum NT-pro-BNP concentrations, intraoperative volume of fluid transfused, and duration of postreperfusion syndrome are independent risk factors for ALI after LDLT in pediatric patients; preoperative serum NT-pro-BNP concentrations can effectively predict the development of ALI after pediatric LDLT surgery.

Objective:To evaluate the effect of stroke volume variation(SVV) goal-directed fluid therapy on postoperative pulmonary complications(PPCs) after pediatric living donor liver transplantation.Methods:One hundred and twenty pediatric patients undergoing pediatric living-donor liver transplantation(all diagnosed with congenital biliary atresia) were divided into 2 groups( n=60 each) using the random number table method: control group and SVV group. Intraoperative fluid management was guided by central venous pressure and mean arterial pressure in control group, while by SVV combined with cardiac output in SVV group. Intraoperative circulation, fluid intake and usage of vasoactive drug were recorded. Central venous blood samples were collected to determine the concentrations of serum Clara cell 16 kDa protein, interleukin-6, and tumor necrosis factor-alpha before anesthesia(T 0), at the end of anhepatic phase(T 1), at 3 h of neohepatic phase(T 2), at the end of surgery(T 3) and at 24 h after operation(T 4). Pulmonary ultrasonography was performed before surgery, at the end of surgery and at 1, 3 and 7 days after surgery. The pediatric patients were followed up for 1 week after surgery to record the PPCs, including acute lung injury, pulmonary infection, pulmonary atelectasis, pleural effusion and acute respiratory distress syndrome. Results:Compared with control group, the incidence of PPCs, acute lung injury and pulmonary infection was significantly decreased, the pulmonary ultrasound score was decreased at the end of surgery and at 1, 3 and 7 days after surgery, the usage of intraoperative dobutamine was increased, the duration of postreperfusion syndrome was shortened, the fluid intake and epinephrine usage were reduced, and the serum Clara cell 16 kDa protein, tumor necrosis factor-alpha and interleukin-6 concentrations were decreased at T 1-T 4 in SVV group( P<0.05). Conclusions:SVV goal-directed fluid management can reduce the development of PPCs in pediatric living donor liver transplantation.

Abstract: To report on two patients with Coronavirus Disease 2019 (COVID-19) combined with diffuse connective tissue disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection followed for nearly 3 years, in order to understand the long-term effects on the patients' immune system. Both patients were male, aged 81-82 years, and were hospitalized with fever on January 29, 2020 and February 10, 2020, respectively. Both were diagnosed with COVID-19 after positive SARS-CoV-2 polymerase chain reaction (PCR) tests. After receiving anti-infection treatment, cough suppressants, ex‐pectorants, and symptomatic supportive treatment, their body temperature returned to normal and two consecutive PCR tests were negative for SARS-CoV-2, and they were discharged from hospital. However, due to recurring fevers and varying degrees of rheumatic disease-related symptoms, both patients were readmitted to the hospital, indicating the presence of positive auto‐ antibodies and organ involvement. One patient recovered from COVID-19 with recurrent fever, joint pain, muscle aches and subcutaneous nodules, and was subsequently diagnosed with undifferentiated connective tissue disease. The other patient developed recurrent fever, mouth ulcers and rash after recovery from COVID-19 and was subsequently diagnosed with anti neutro phil cytoplasm antibody (ANCA)-associated vasculitis (AAV). The patient was treated with glucocorticoids and immunosuppres sive drugs and the symptoms resolved rapidly and subsequent laboratory and imaging examinations showed stable condition. However, due to self-termination of medication, their symptoms quickly relapsed, and further treatment with glucocorticoids and immunosuppressive agents resulted in sustained stability of their condition. The erythrocyte sedimentation rate and hyper‐sensitive C-reactive protein remained within normal limits, and lung CT scans showed stable lesions with partial absorption.SARS-CoV-2 infection may have long-term effects on patients' immune systems, leading to abnormal immune responses and diffuse connective tissue disease. This suggests that regular follow-up observation of immune system-related diseases may be necessary for elderly patients with COVID-19.

Objective:To explore the effect of intensive insulin therapy on hemodynamics and cardiac function in organ donors.Methods:A total of 60 organ donors were randomly divided into two groups of intensive insulin therapy(IIT)and control(30cases each group). Blood glucose was adjusted at 6.2~10.0 mmol/L in control group and 4.4~6.1 mmol/L in IIT group.Blood glucose and insulin dosage during maintenance were recorded.Cardiac function values as well as serum inflammatory factor concentrations at admission and during donation were compared between two groups.Results:During maintenance, blood glucose was significantly lower in IIT group than that in control group [(5.1±0.6)vs(8.2±1.5)mmol/L, P<0.05] and insulin dosage was higher than that in control group [(9.5±3.2)vs(5.8±1.5)U/h, P<0.05]. As compared with control group, cardiac cycle efficiency(CCE), maximal rate of elevated pressure(DP/DT max)and left ventricular ejection fraction(LVEF)in were significantly higher in IIT group than those of control group.And serum cardiac troponin I(cTnI), N-terminal B-type natriuretic peptide(NT-Pro-BNP), interleukin-6(IL-6), tumor necrosis factor-α(TNF-α)and high mobility group box-1 protein(HMGB1)as well as vasoactive-inotropic score(VIS)were significantly lower than those in control group( P<0.05). As compared with control group, cardiac donation rate of IIT group was significantly higher(30% vs 16.7%, P<0.05). Conclusions:Intensive insulin therapy and blood glucose control may blunt inflammatory response in organ donors, lessen myocardial injury and myocardial depression, stabilize hemodynamics and boost the rate of cardiac donation.

Objective:To investigate the method and clinical effect of horn-shaped perforator flaps with multiple blood supply for reconstructing massive facial defects caused by various reasons.Methods:A retrospective review was performed on patients with massive facial defects in the Department of Plastic Surgery of First Affiliated Hospital of Anhui Medical University from June 2015 to July 2020. The Doppler ultrasound was used to localize the facial source artery and perforators preoperatively. During the operation, the flap was designed according to the defect size, the elasticity of around skin, the length from the distal end of the defect to the location of the selected perforator, and the Langer’s line of the face. The length of the proximal part of the flap was approximately equal to the defect width, and the length of the flap was about 3 to 3.5 times longer than the defect width. An incision was made along the distal part of the flap. The flap dissection proceeded in a proximal to distal fashion superficial to the superficial musculoaponeurotic system, until forming a large perforator flap. A small number of fibrous around the perforator were retained, and the flap was rotated and advanced to reconstruct the defect without any tension. The donor site was closed directly. Wound healing, scar formation, tumor recurrence, and tumor metastasis were followed postoperatively.Results:A total of nine cases were enrolled, with four male patients and five female patients. The mean age of the patients was 58 years, ranging from 35 to 81 years. The size of the flap ranged from 10.0 cm × 6.0 cm to 14.0 cm × 7.0 cm. All flaps survived, and the wound healed primarily. After 3 to 24 months of follow-up, no recurrence of tumor, obvious scar, flap bloated, facial deformity, or other complications were observed. The patients was satisfied with the aesthetic subunit structure and function.Conclusions:The horn-shaped perforator flap with multiple blood supply is simple in design, easy in decision, reliable in blood supply, and consistent in color and texture with the original tissue. The incision scar can be hidden in the Langer’s line with a satisfying appearance, which is suitable for aged patients with sagging facial skin.

Objective:To investigate the method and clinical effect of horn-shaped perforator flaps with multiple blood supply for reconstructing massive facial defects caused by various reasons.Methods:A retrospective review was performed on patients with massive facial defects in the Department of Plastic Surgery of First Affiliated Hospital of Anhui Medical University from June 2015 to July 2020. The Doppler ultrasound was used to localize the facial source artery and perforators preoperatively. During the operation, the flap was designed according to the defect size, the elasticity of around skin, the length from the distal end of the defect to the location of the selected perforator, and the Langer’s line of the face. The length of the proximal part of the flap was approximately equal to the defect width, and the length of the flap was about 3 to 3.5 times longer than the defect width. An incision was made along the distal part of the flap. The flap dissection proceeded in a proximal to distal fashion superficial to the superficial musculoaponeurotic system, until forming a large perforator flap. A small number of fibrous around the perforator were retained, and the flap was rotated and advanced to reconstruct the defect without any tension. The donor site was closed directly. Wound healing, scar formation, tumor recurrence, and tumor metastasis were followed postoperatively.Results:A total of nine cases were enrolled, with four male patients and five female patients. The mean age of the patients was 58 years, ranging from 35 to 81 years. The size of the flap ranged from 10.0 cm × 6.0 cm to 14.0 cm × 7.0 cm. All flaps survived, and the wound healed primarily. After 3 to 24 months of follow-up, no recurrence of tumor, obvious scar, flap bloated, facial deformity, or other complications were observed. The patients was satisfied with the aesthetic subunit structure and function.Conclusions:The horn-shaped perforator flap with multiple blood supply is simple in design, easy in decision, reliable in blood supply, and consistent in color and texture with the original tissue. The incision scar can be hidden in the Langer’s line with a satisfying appearance, which is suitable for aged patients with sagging facial skin.

OBJECTIVE: To explore the genetic basis for a fetus with cerebellar dysplasia and widened lateral ventricles. METHODS: The couple have elected induced abortion after careful counseling. Skin tissue sample from the abortus and peripheral venous blood samples from both parents were collected for the extraction of genomic DNA, which was then subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: Prenatal ultrasonography showed increased nuchal translucency (0.4 cm) and widened lateral ventricles. Magnetic resonance imaging revealed infratentorial brain dysplasia. By DNA sequencing, the fetus was found to carry compound heterozygous variants c.1A>G and c.1564G>A of the RARS2 gene, which were inherited from its father and mother, respectively. Among these, c.1A>G was known to be pathogenic, but the pathogenicity of c.1564G>A was unreported previously. Based on the American College of Medical Genetics and Genomics guidelines, the c.1564G>A variant of RARS2 gene was predicted to be likely pathogenic(PM2+PM3+PP3+PP4). CONCLUSION The compound heterozygous variants c.1A>G and c.1564G>A of RARS2 gene contributed to the fetus suffering from pontocerebellar hypoplasia type 6, which expanded variant spectrum of RARS2 gene.
Female ; Fetus ; Genomics ; Humans ; Mutation ; Olivopontocerebellar Atrophies ; Pregnancy ; Whole Exome Sequencing

Objective:To evaluate the myocardial protective effect of goal-directed circulation management guided by cardiac index (CI) monitored by pressure recording analytical method (PRAM) in infants undergoing pediatric liver transplantation.Methods:A total of 120 pediatric patients, aged 5-15 months, weighing 5.5-10.0 kg, scheduled for elective living donor liver transplantation (all diagnosed with congenital biliary atresia) were selected and divided into 2 groups ( n=60 each) using a random number table method: routine group (group R) and goal-directed management guided by CI group (group CI-G). Patients in group R received routine hemodynamic monitoring according to central venous pressure (CVP), continuous invasive arterial pressure, blood gas analysis and other monitoring methods to guide intraoperative circulation management.Patients in CI-G group received intraoperative hemodynamic monitoring through radial artery using PRAM/Mostcare, and related treatments were guided by PRAM hemodynamic monitoring indicators.The intraoperative volume of fluid intake, highest and lowest values of parameters of hemodynamics such as heart rate (HR), mean arterial pressure (MAP) and CVP, the maximum fluctuations (△ RHR, △ RMAP and △ RCVP) and the development of reperfusion syndrome within 5 min of reperfusion were recorded.At the beginning of anesthesia (T 0), at 5 min before reperfusion (T 1), at 30 min of neohepatic phase (T 2), at 3 h of neohepatic phase (T 3) and at 12 h after operation (T 4), concentrations of serum cardiac troponin I (cTnI), N-terminal plasma brain natriuretic peptide precursor (NT-pro-BNP), interleukin-6 (IL-6), tumor necrosis factor-α (TNF-α) and high mobility group protein B1 (HMGB1) were determined.Mechanical ventilation time, duration of intensive care unit (ICU) stay, the development of heart failure and pulmonary infection, length of hospital stay were recorded. Results:Compared with group R, the intraoperative volume of fluid intake, highest value of CVP, △ RHR, △ RMAP and the incidence of reperfusion syndrome were significantly decreased, lowest value of MAP was increased, concentrations of serum cTnI, NT-pro-BNP, IL-6, TNF-α and HMGB1 was decreased, mechanical ventilation time and duration of ICU were shortened, and the incidence of heart failure during ICU stay were decreased in group CI-G( P<0.05). Conclusion:The goal-directed circulation management guided by CI monitored by PRAM can accurately guide the use of volume and vasoactive drugs, stabilize circulation, which can produce myocardial protective effect to some extent in infants undergoing pediatric liver transplantation.

Objective:To explore the effect of cardiac output-guided hemodynamic management on acute kidney injury(AKI)during pediatric liver transplantation.Methods:A total of 120 pediatric living-donor liver transplantation recipients were randomly divided into two groups of control and experiment(60 cases each group). Control group received routine hemodynamic management of central venous pressure(CVP), continuous invasive arterial pressure and blood gas analysis.Experiment group was subjected to cardiac output-guided hemodynamic management guided by cardiac index, stroke volume index, stroke volume variation and left ventricular contractility index (DP/DTmax). Intraoperative hemodynamics and incidence of AKI were recorded.And the serum changes of neutrophil gelatinase-associated lipocalin(NGAL), cystatin C(CysC)and inflammatory factors were analyzed.Results:The incidence of AKI was lower in experiment group than that in control group(26.7% vs 45%). The incidence of postreperfusion syndrome(PRS), intraoperative fluid infusion and maximal value of CVP were lower while minimal value of mean arterial pressure(MAP)higher in experiment group than those in control group( P<0.05). The serum levels of NGAL, CysC, interleukin-6(IL-6), interleukin-18(IL-18)and tumor necrosis level-alpha(TNF-α)were lower in experiment group than those in control group at each timepoint from 3 h post-reperfusion to 48 h post-operation( P<0.05). Conclusions:During pediatric living-donor liver transplantation, cardiac output-guided hemodynamic management is conducive to more accurate fluid management.It can stabilize circulation, minimize PRS and reduce the occurrence of AKI during perioperative period.