Background and aim:Hepatitis B virus(HBV)-related gestational acute-on-chronic liver failure(ACLF)is a severe condition with limited treatment options.This study aimed to evaluate the efficacy and ideal timing of plasma exchange and continuous renal replacement therapy(CRRT)in managing pregnant women with HBV-related ACLF. Methods:This study retrospectively analyzed 51 eligible patients with HBV-related gestational ACLF between 2009 and 2020.Patients admitted to the study were divided into a conventional treatment group and a new treatment group according to whether they received the new management protocol,which included more aggressive plasma exchange(PE)and CRRT strategies.All 19 pregnant women with hepatic encephalopathy(HE)were divided into an early treatment group and a non-early treatment group according to whether PE therapy was initiated within three days.Our study had two primary objectives.Firstly,we aimed to evaluate the impact of PE and CRRT on puerperal survival.Secondly,we sought to assess the effects of early PE and CRRT regimens on puerperal survival in women with HE. Results:The levels of total bilirubin on the second day postpartum(D3),the third day postpartum(D4),and the fifth day postpartum(D6)were significantly lower in the new treatment group compared to the conventional treatment group(P=0.02,0.01,and 0.02,respectively).The ALT of D3 was significantly elevated in the new treatment group compared to the conventional treatment group(P=0.02).The incidence of HE overall increased from prenatal to postpartum D4,peaked on D4,and then gradually decreased from the fourth day postpartum(D5)(P=0.027).The first week after delivery revealed a significant difference in survival rate between the two groups,the conventional treatment group had statistically higher mortality rates compared to the new treatment group(P=0.002).Similarly,the entire puerperal period mortality rate of the conventional treatment group was statistically higher than the new treatment group(P=0.002).Moreover,among all patients with HE,the non-early treatment group showed significantly higher puerperal mortality rates compared to the early treatment group(P=0.006). Conclusions:Early PE and CRRT conducted within three days post-childbirth,enhance puerperal prog-nosis for HBV-related gestational ACLF.

Liver transplantation(LT)is the only effective treatment for hepatopulmonary syndrome(HPS).Moreover,perioperative refractory hypoxemia(pRH)is a prevalent life-threatening condition and has extremely limited treatment options.Here,we report three patients with HPS who experienced pRH after LT and were consecutively treated with different salvage therapies,ephedrine inhalation,intravenous use of methylene blue with nitric oxide(NO)inhalation,and NO inhalation alone.The results showed that unresolved severe hypoxia may induce fatal morbidity such as early biliary leakage and acute kidney injury.Early initiation of NO inhalation,rather than ephedrine,can significantly improve oxygenation in patients with pRH and may help prevent hypoxia-related complications.Therefore,based on the response to these exploratory salvage treatments,we further demonstrate the unique ventilation-perfusion mismatch pathophysiology in specific lung regions during pRH in HPS.We propose that early inhalation of NO is an important treatment option to rescue severe hypoxia in patients with HPS during the perioperative period of LT.

OBJECTIVE: To analyze the clinical and genetic characteristics of a boy featuring unexplained developmental delay, malnutrition and distinct facial appearance. METHODS: Physical examination was carried out for the child. Peripheral blood samples were collected from the child and his parents for the extraction of genomic DNA and trio-whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: The patient had facial dysmorphism including nasal alae aplasia, scalp defect and teeth deformities, in addition with recurrent diarrhea due to pancreatic exocrine insufficiency. DNA sequencing revealed that he has harbored compound heterozygous variants of the UBR1 gene, namely c.3167C>G (p.S1056X) and c.1911+14C>G, which were inherited from his father and mother, respectively. Database search has suggested the c.3167C>G to be a novel nonsense variant and c.1911+14C>G a known splicing variant. Based on the guidelines of the American College of Medical Genetics and Genomics, the two variants were predicted to be pathogenic and likely pathogenic, respectively. CONCLUSION The child was diagnosed with Johanson-Blizzard syndrome due to the compound heterozygous variants of the UBR1 gene. Above finding has enriched the mutational spectrum of the UBR1 gene and provided a basis for genetic counseling for this family.
Child ; Humans ; Male ; Ectodermal Dysplasia/genetics* ; Pancreatic Diseases/genetics* ; Ubiquitin-Protein Ligases/genetics*

Organ transplantation is the primary effective treatment for end-stage organ failure. Donor-derived infection (DDI) is significantly associated with the incidence of infection and mortality of the recipients after organ transplantation. Improvement of donor screening technology and early prevention and treatment can improve the safety of transplantation. In this article, the pathogenic characteristics of DDI bacterial infection, fungal infection, viral infection and parasitic infection were summarized, and the research progress upon the prevention and treatment were briefly introduced, aiming to provide reference for reducing DDI.

OBJECTIVE: To explore the clinical characteristics and molecular basis for a Chinese boy affected with jaundiced skin and liver disease. METHODS: The patient was subjected to clinical examination and laboratory tests. Genomic DNA of the patient and his parents was extracted and analyzed by using next generation sequencing (NGS). Suspected mutations were analyzed with bioinformatic software and verified by Sanger sequencing. RESULTS: The patient had jaundice in his eyes and skin. Serum bilirubin was elevated along with hepatomegaly. Next generation sequencing showed that the patient has carried c.18C>A(p.C6X) and c.2556delA mutations in the MRP2 gene, which were respectively inherited from his father and mother. CONCLUSION The missense mutation c.18C>A and frameshift mutation c.2556delA probably account for the disease. NGS has provided a powerful tool for the diagnosis of rare genetic diseases including Dubin-Johnson syndrome.
Asian Continental Ancestry Group ; DNA ; High-Throughput Nucleotide Sequencing ; Humans ; Jaundice, Chronic Idiopathic ; Male ; Mutation

OBJECTIVE To identify potential mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). METHODS The SLC25A13 gene was analyzed by next-generation sequencing. Suspected mutations were confirmed by PCR and Sanger sequencing in the probands and their parents. Impact of novel mutations was predicted with PolyPhen-2 software. RESULTS All neonates have harbored mutations of the SLC25A13 gene. Eight mutations were discovered, which included two novel mutations (c.1357A>G and c.1663dup23). All parents were found to be carriers of the mutations. CONCLUSION Mutations of the SLC25A13 gene probably underlie the NICCD among the five patients, among which 851del4 and 1638-1660dup were the most common ones. This has enriched the spectrum of SLC25A13 mutation in association with NICCD.

[Objective] To investigate the mesenchymal stem cells (MSC) in treating acute lung injury (ALI) via ALI mouse model.[Methods] By monoclonal antibody Anti-GD2 of specific antigen ganglioside (GD2) only expressed on MSC as a carrier,new fluorescent molecule probe were synthesized through covalently coupling Anti-GD2 and fluorescent group CyDye mono-reactive NHS Esters (Cy7).Synthetic Anti-GD2-Cy7 and MSC were labeled by the specific binding of antigen and antibody in vitro.Total 84 balb/c male mice were selected and randomly selected 48 mice were divided into three groups:sham group (n =16),MSC+ ALI group (n =16),NS + ALI group (n =16).The lung histopathology and scores,lung W/D ratio and permeability of lung microvasculature were examined at 24 h,48 h after ALI mouse model.Other 36 mice were randomly divided into three groups:normal group (n =12),sham group(n =12),MSC +ALI group(n =12).Labeled MSC-GD2-Cy7 were transplanted into MSC+ALI group and sham group mice via tail vein injection.At 30 min,1 d,3 d,and 7 d post-MSC-GD2-Cy7 injection,the mice were sacrificed after anesthesia and then the lung was removed.Excised lung was detected on small animal fluorescent imager.[Results] Contrast to NS+ ALI group,the lung histopathology and scores,lung W/D ratio and permeability of lung microvasculature of MSC +ALI group were more greatly improved at both 24 h and 48 h.Fluorescent results showed that the signal intensity in thc lung of MSC +ALI group was significantly higher than that of sham group at each time point [(3.37 ± 0.02)× 10-4 vs (2.05 ± 0.04) × 10-4 scaled counts/s;(35.54 ± 0.47)× 10-4 vs (25.29 ± 1.48) × 10-4 scaled counts/s;(11.17 ± 0.75)×10-4 vs (6.09 ± 0.62)× 10-4 scaled counts/s;(3.10 ± 0.14) vs (0.00 ± 0.00)× 10-4 scaled counts/s;all P ＜ 0.05].[Conclusion] Our study showed that a proportion of cells migrated into normal and injured lungs 30 min after cell transplantation,and the cells started to recruit and largely gather in injured lungs at day 1 and persisted to day 7,these results suggest that MSC possess the ability to home into injured tissues.

Objective To investigate the application effect of nasojejunal feeding tube nutrition in patients with severe traumatic brain injury. Methods The clinical data of 54 patients with severe traumatic brain injury admitted to the Department of Surgical Critical Care Medicine,the Third Affiliated Hospital,Sun Yatsen University between June 2012 and December 2014 were analyzed retrospectively. They were divided into either a nasojejunal feeding tube nutrition support group (nasojejunal group,n = 26)or an asogastric feeding tube nutrition support group (asogastric group,n = 28)according to the different ways of enteral nutrition. All patients began to receive nasal feeding whole protein preparations (enteral nutritional emulsion,TPF-D)from the second day after admission to intensive care unit (ICU). The time to reach the enteral nutrition support target,the time of parenteral nutritional support,nutritional index (albumin and hemoglobin),the time admission to ICU,and the incidences of infection and gastrointestinal complications in both groups were observed. Results (1)According to the body weight to calculate calorie demand, the nasojejunal group reaching the time of enteral nutrition support target was faster than that of the asogastric group (3. 0 ± 0. 8 d vs. 7. 7 ± 2. 5 d). There was significant difference between the 2 groups (P < 0. 01). The time of the combined parenteral nutrition support in the nasojejunal group was reduced significantly compared with the asogastric group (2. 0 ±0. 8 d vs. 6. 7 ±2. 5 d). There was significant difference between the 2 groups (P <0. 01). (2)At day 30after treatment,the levels of total serum protein and hemoglobin in the nasojejunal group were higher than those of the asogastric group (64 ± 6 g/ L vs. 61 ± 6 g/ L and 120 ± 17 g/ L vs. 106 ± 16 g/ L,respectively. There were significant differences (P < 0. 05). (3)The mean length of stay in the ICU was obviously shorter in nasojejunal group compared with the asogastric group (11 ± 5 d vs. 14 ± 6 d). There was significant difference between the 2 groups (P < 0. 05). (4)There were no significant differences in complications of the patients,such as the incidences of pulmonary infection,hyperglycemia,and diarrhea between the 2 groups (P > 0. 05). Conclusion Nasojejunal feeding tube nutrition support may be faster to achieve the target of enteral nutrition supports and shorten the time in ICU.

Objective To investigate the cause,prevention and treatment of intra-abdominal hemorrhage after liver transplantation. Methods Clinical data of 82 patients undergoing liver transplantation were retrospectively analyzed. All participants were divided into the intra-abdominal hemorrhage (n =12)and control groups (n =70). Preoperative parameters including age,model for end-stage liver disease (MELD)score,prothrombin time (PT),prothrombin time international normalized ratio (PT-INR),fibrinogen (FIB),activated partial thromboplastin time (APTT),platelet (Plt) were statistically compared between two groups. Intraoperative hemorrhage volume,cold ischemia time of donor liver, anhepatic phase time and operation time were also compared between two groups. Postoperatively,the mortality rate was compared between two groups. Results Among 82 patients,1 2 (1 5%)presented with intra-abdominal hemorrhage and required twice surgical hemostasis. In the intra-abdominal hemorrhage group,4 cases (33%)died,and 8 (1 1%)died in the control group. No statistical significance was documented between two groups (P>0. 05 ). Age,MELD score,PT-INR, FIB,APTT and PLT did not significantly differ between two groups (all P>0. 05 ). Compared with patients in the control group,those in the intra-abdominal hemorrhage group yielded significantly more blood loss intraoperatively,longer operation time and longer cold ischemia time of donor liver (all P<0. 05 ). Anhepatic phase time did not significantly differ between two groups (P>0. 05 ). Conclusions After liver transplantation,intra-abdominal hemorrhage is associated with longer cold ischemia time of donor liver,more intraoperative blood loss and longer operation time. In order to decrease the incidence of postoperative intra-abdominal hemorrhage,coagulation function should be completely corrected prior to surgery and the surgical skills should also be enhanced.

ObjectiveTo investigate the infection and drug resistance ofAcinetobacter baumannii in the Third Afifliated Hospital of Sun Yat-sen University.MethodsClinical data of 209 patients infected withAcinetobacter baumanniiin the Third Affiliated Hospital of Sun Yat-sen University between June 2012 and December 2014 were retrospectively analyzed. Among the patients, 160 were males and 49 were females with the average age of (55±18) years old. The informed consents of all patients were obtained and the local ethical committee approval was received. The specimen source, ward distribution and drug resistance of Acinetobacter baumannii were observed. The comparison of drug resistance was conducted using Chi-square test and Bonferroni test.ResultsTwo hundred and thirty-six strains ofAcinetobacter baumannii were isolated in the hospital, and most were isolated from Department of Liver Transplantation (50 strains, 21.2%), the next were Department of Rehabilitation (34 strains, 14.4%) and Surgical Intensive Care Unit (SICU) (21 strains, 8.9%). Sputum specimens were the main source ofAcinetobacter baumannii, respectively accouting for 84%, 76% and 71% in the three wards, whereAcinetobacter baumannii had high drug resistance to the common antibiotics used in clinical. The drug resistance rate to sulfamethoxazole ofAcinetobacter baumannii in Department of Liver Transplantation was 76%, signiifcantly higher than 33% of SICU (χ2=11.60,P<0.017).ConclusionsAcinetobacter baumannii is found most in Department of Liver Transplantation, which is followed by Department of Rehabilitation and SICU. Sputum specimen is the main source ofAcinetobacter baumannii.Acinetobacter baumannii detected in the three wards has a high drug resistance to common antibiotics.