Objective:To investigate the related risk factors of surgical appendectomy after endoscopic retrograde appendicitis therapy (ERAT) in children.Methods:From September 2019 to November 2023 at the Children's Hospital Affiliated to Shandong University,the data from all related children with appendectomy after ERAT were analyzed. The general situation and main clinical manifestations of the children were collected. According to the effect of ERAT,the patients were divided into transfer to surgical group and appendicitis recurrence group by the reasons and time of transfer to surgical treatment. The indexes such as ERAT and reoperation process and pathological types of appendix after operation were collected,and the clinical experience was summarized.Results:Among the 242 children who underwent ERAT,32 cases underwent appendectomy again,including 19 males and 13 females,with an average age of（9.16±2.77）years,and the reoperation rate was 13.2%. The clinical manifestation was abdominal pain (32 cases,100.0%),mainly right lower abdominal pain (28 cases,87.5%),and the main duration was less than 3 months (30 cases,93.8%). Abdominal ultrasound or CT before ERAT mainly indicated appendicitis (11 cases,34.4%) and appendicitis complicated with appendiceal calculus (11 cases,34.4%). There were 9 children in transferred to surgical group,of which 5 cases were transferred to surgery because of ERAT intubation failure,and 4 cases were transferred to surgery because of appendix perforation or abscess. Postoperative pathology showed acute suppurative appendicitis in 5 cases and acute gangrenous appendicitis in 4 cases. There were 23 children in appendicitis recurrence group,whose abdominal pain was relieved after ERAT,but their symptoms were repeated after discharge. After clinical evaluation,they were diagnosed as recurrent appendicitis and underwent surgical appendectomy. Most of them were reoperated within 6 months after ERAT (21 cases,91.3%).Postoperative pathology was mainly chronic appendicitis (10 cases,43.5%).Conclusion:Acute suppurative appendicitis and acute gangrenous appendicitis are prone to catheterization or endoscopic failure during ERAT,and there is a high risk of surgical transfer. ERAT may relieve the symptoms of chronic appendicitis in children. If the symptoms are repeated,surgery is still needed to remove the appendix.

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 compare and analyze the efficacy and safety of intraoperative radiotherapy (IORT) combined with conventional therapy (surgery combined with radiochemotherapy) and conventional therapy alone for pancreatic cancer.Methods:Literature review was conducted from PubMed, Cochrane Library, Web of Science, Embase, Chongqing VIP, CNKI, Wanfang Data and China Biomedical Literature Service System (SinoMed). The literatures that met the inclusion criteria were screened and the data were extracted. Meta-analysis was carried out by RevMan 5.4 software.Results:A total of 11 studies consisting of 813 patients were included. According to the combined results, compared with conventional therapy, IORT combined with conventional therapy could improve the overall survival rate of pancreatic cancer ( HR=0.66, 95% CI=0.54-0.81, Z=4.03, P<0.001), and did not increase the treatment-related side effects ( OR=1.00, 95% CI=0.69-1.46, Z=0.01, P=0.99), but failed to bring benefit to the local control rate ( HR=0.56, 95% CI=0.31-1.01, Z=1.93, P=0.05). Conclusions:The overall survival rate in the IORT combined with conventional therapy group is significantly better than that in the conventional therapy group. No significant difference is found in the treatment-related adverse reactions between two groups. IORT combined with conventional therapy is worthy of clinical application.

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*

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 evaluate the sensitivity, specificity and clinical value of anti-BRAF V600E antibody (clone VE1) in detection of the BRAF V600E mutant in formalin-fixed and paraffin-embedded (FFPE) melanoma specimens by immunohistochemical (IHC) methods. Methods: A total of 50 melanoma samples collected between 2008 and 2016 from 40 patients were analyzed for BRAF mutation (exon 15) by DNA sequencing using FFPE. These tissues were immunostained with VE1 antibody, and the results were analyzed and compared with those by DNA sequencing. Results: By DNA sequencing, 36 cases showed BRAF mutation while others were BRAF wild type. Among the 36 cases with BRAF mutation, 32 harbored BRAF V600E, two harbored BRAF V600K, one had BRAF K601E and one had BRAF D594N, respectively. IHC staining showed 30 specimens were VE1 positive, while 19 were negative. The determination of IHC result for one case was obscured by heavy pigments. Of the BRAF-mutated specimens, four specimens with BRAF mutation other than V600E were all negative for VE1. The sensitivity and specificity of the VE1 immunostaining was 96.8% and 100.0% respectively.Concordance of BRAF V600E detection between immunostaining and DNA sequencing was 98.0%(48/49). Conclusions High sensitivity and specificity for VE1 immunostaining in detecting BRAF V600E in melanomas are demonstrated. It is a rapid and cost-effective method for detecting BRAF V600E mutations in melanoma patients. Hence, VE1 immunostaining can be used as an important screening method for BRAF mutation in laboratories.

Objective To summarize the treatment experience of sepsis after liver transplantation.Methods The clinical features and treatment methods of 1 patient developing sepsis after liver transplantation, who was admitted and treated in the Surgical Intensive Care Unit of the Third Affiliated Hospital of Sun Yat-sen University in September 201 4,were retrospectively studied.The interpretation of International Guidelines for Management of Severe Sepsis and Septic Shock (SSC Guidelines)and relevant literature were reviewed.Results One male patient at the age of 50 years old developed high fever and decrease of blood pressure at 1 d after liver transplantation,and was diagnosed as septic shock.The symptoms were relieved after the appropriate treatment like goal-directed fluid resuscitation,anti-infection and blood purification,etc.And the patient was discharged in stable conditions.Conclusions It is easy to develop infection after liver transplantation and the fatality rate of sepsis caused by infection is high.Once the sepsis occurs,clinicians must perform early goal-directed therapy and bundle therapy according to the SSC Guidelines positively,and select the appropriate drugs according to the pathogen culture results in order to reduce the fatality rate.

ObjectiveTo investigate the drug sensitivity ofAcinetobacter baumannii in organ transplantation patients.MethodsClinical data of 66 patients detected withAcinetobacter baumannii in the Third Affiliated Hospital of Sun Yat-sen University between June 2012 and June 2015 were retrospectively studied. The informed consents of all patients were obtained and the local ethical committee approval had been received. Among the 66 patients, 55 were males and 11 were females with the average age of (47±12) years old. Among the 66 patients, 11 cases were before liver transplantation, 52 were after liver transplantation, 1 was after kidney transplantation and 2 were in liver transplantation state. Sputum, urine, blood, wound secretion and drainage liquid of the patients were collected for bacterial culture and drug sensitivity test.ResultsA total of 73 strains ofAcinetobacter baumannii cultured from the specimens of 66 patients and the drug resistance rate to 13 antibiotics was respectively 78% to piperacillin sodium, 75% to cefotaxime sodium, 74% to ceftazidime, 73% to ceftriaxone sodium, 74% to cefepime, 73% to meropenem/imipenem-cilastatin sodium, 75% to ticarcillin sodium-clavulanate potassium, 73% to ciprolfoxacin, 71% to levolfoxacin, 73% to tobramycin, 73% to gentamycin, 73% to amikacin and 69% to trimethoprim/sulfadiazine. The resistance rate ofAcinetobacter baumannii cultured between 2014 and 2015 to the aforementioned antibiotics was higher than that cultured between 2012 and 2013. The resistance rate to carbapenems was 17% in 2012, 33% in 2013, 86% in 2014 and 92% in 2015.ConclusionThe infection incidence of multi-drug resistantAcinetobacter baumannii in organ transplantation patients trends to increase year by year, which shall be paid attention to during the treatment.

Objective To investigate the therapeutic effect and safety of plasma exchange in the treatment of patients with severe liver disease in pregnancy. Methods Clinical data of 28 patients with severe liver disease in pregnancy in Surgical Intensive Care Unit (SICU), the Third Afifliated Hospital of Sun Yat-sen University from March 2009 to October 2013 were analyzed retrospectively. According to the therapeutic schedule, the patients were divided into treatment group (n=12, age range:21 to 28 years old, median age:25 years old) and control group (n=16, age range:18 to 29 years old, median age:24 years old). The informed consents of all patients were obtained and the ethical committee approval was received. All patients were transferred to SICU after childbirth and received treatments of anti-infection, anti-virus, liver protection, reducing jaundice, supplying human albumin and gamma globulin, infusing blood coagulation and so on. And patients in treatment group received the treatment of exchange of homotype fresh plasma on the basic of the above treatments. The differences between 2 groups in clinical examination indicators and therapeutic effect were compared. The adverse reactions after plasma exchange in treatment group were observed. The examination indicators of 2 groups were compared using t test and the ratios were compared using Chi-square test. Results The blood total bilirubin (TB), albumin (ALB) , serum creatinine (Scr), fasting blood glucose (FPG) , prothrombin time activity (PTA) and arterial lactic acid (Lac) were (197±69)μmol/L, (30±7)g/L, (111±42)μmol/L, (5.7±2.4)mmol/L, (55±24)%, (2.3±0.6)mmol/L respectively in treatment group and were (299±113)μmol/L, (24±6)g/L, (165±82)μmol/L, (3.7±1.7)mmol/L, (33±11)%, (4.4±1.5)mmol/L respectively in control group. The indicators in treatment group were signiifcantly improved compared with those in control group (t=-3.453, 2.389,-4.892, 2.798, 6.079, -3.339; P<0.05). The effective rate in treatment group (92%,11/12) was signiifcantly higher than that in control group (56%,9/16) ( χ2=4.215, P<0.05). One case in treatment group suffered transitional hypotension after plasma infusion and the blood pressure returned to normal 1 h later after giving a small dose of vasoactive drugs. Conclusions Plasma exchange can improve the clinical examination indicators and therapeutic effect of patients with severe liver disease in pregnancy. It is a safe and effective treatment.