OBJECTIVE: To explore the genetic characteristics of a fetus affected with Structural heart defects and renal anomalies syndrome (SHDRA). METHODS: A pedigree with SHDRA (fetus and the parents) who had visited the Affiliated Women and Children's Hospital of Ningbo University in April 2023 was selected as the study subject. Clinical data of the family were collected. A total of 10 mL of amniotic fluid cells from the fetus and 5 mL of peripheral blood samples from the parents were collected for genomic DNA extraction. Trio whole-exome sequencing (Trio-WES) was performed, and Sanger sequencing was used to validate candidate variants in the family. The identified variants were classified according to the Standards and Guidelines for the Interpretation of Sequence Variants established by the American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the "ACMG Guidelines). Relevant research literature on SHDRA in domestic and international databases were searched for literature review. This study was approved by the Affiliated Women and Children's Hospital of Ningbo University (Ethics No. EC2023-094). RESULTS: In this family, prenatal ultrasound at 18 weeks of gestation revealed left renal multicystic dysplasia in the fetus. After birth, the infant exhibited an ostium secundum atrial septal defect, patent ductus arteriosus, and left renal multicystic dysplasia. Trio-WES revealed that the fetus had carried c.344dup (p.L116Afs*32) and c.90_104dup (p.Ala31_Ala35dup) compound heterozygous variants in the TMEM260 gene, which were respectively inherited from its father and mother. According to the ACMG guidelines, the c.344dup (p.L116Afs*32) and c.90_104dup (p.Ala31_Ala35dup) variants were classified as pathogenic (PM2_Supporting+PVS1+PP4) and likely pathogenic (PM2_Supporting+PM4+PM3+PP4), respectively. According to the literature search strategy set for this study, a total of 6 literature was retrieved, involving 25 SHDRA patients from 20 families. Together with the patients in this study, there were 14 TMEM260 gene variants, most of which were frameshift variants (7 types) and had located in exons 3, 11 and 13. The main clinical features of SHDRA were congenital heart malformation, renal abnormality and neurodevelopmental abnormality, and there was a lack of genotype-phenotype correlation. CONCLUSION The c.344dup (p.L116Afs*32) and c.90_104dup (p.Ala31_Ala35dup) variants of the TMEM260 gene probably underlay the SHDRA in this family. Above finding has provided a basis for clinical diagnosis and genetic counseling for the family.
Humans ; Female ; Pedigree ; Membrane Proteins/genetics* ; Male ; Heart Defects, Congenital/genetics* ; Kidney/abnormalities* ; Pregnancy ; Adult ; Kidney Diseases/congenital* ; Exome Sequencing ; Mutation ; Genetic Testing

Objective To evaluate the long-term safety of related kidney donors after unilateral nephrectomy.Methods A total of 91 related donors who received nephrectomy in our hospital from 2006 to 2011 were followed up for at least 10 years by outpatient,telephone,or WeChat.During the follow-up period,the serum creatinine,serum uric acid,blood urea nitrogen,estimated glomerular filtration rate(eGFR),hematuria,urinary protein,blood pressure,blood glucose and blood lipids of the donors were detected,and the changes before and after nephrectomy were analyzed.Results At 1 month after operation,the levels of serum creatinine,blood urea nitrogen and serum uric acid of the donor were significantly higher than those before operation(all P＜0.05),but still within the normal range.The patients were followed up for 1,3,5 and 10 years after operation.Compared with 1 month after operation,the serum creatinine,blood urea nitrogen and serum uric acid were relatively stable(all P＞0.05).The eGFR of donors of different ages remained relatively stable for a long time after operation.There were 3 cases of endoscopic hematuria and 4 cases of proteinuria after surgery,and these symptoms were relieved after rest and symptomatic treatment.Ten(11.0%)donors developed hypertension 5(5.5%)developed hyperlipidemia,and 5(5.5%)developed diabetes mellitus.No patient died.Conclusion Nephrectomy is safe and feasible for healthy related donors.To ensure the safety of the donors,comprehensive evaluation before nephrectomy and regular follow-up after nephrectomy are essential.

Following the principles of evidence-based medicine,in accordance with the structure and drafting rules of standardized documents,based on literature research,according to the characteristics of chronic cough in children and issues that need to form a consensus,the TCM Guidelines for Diagnosis and Treatment of Chronic Cough in Children was formulated based on the Delphi method,expert discussion meetings,and public solicitation of opinions.The guideline includes scope of application,terms and definitions,eti-ology and diagnosis,auxiliary examination,treatment,prevention and care.The aim is to clarify the optimal treatment plan of Chinese medicine in the diagnosis and treatment of this disease,and to provide guidance for improving the clinical diagnosis and treatment of chronic cough in children with Chinese medicine.

Primary abdominal wall tumors constitute approximately 10%of the total spectrum of soft tissue tumors.Based on their biological characteristics,these tumors can be classified into three distinct categories:benign,malignant,and borderline.Different subtypes of abdominal wall tumors exhibit significant heterogeneity in clinical manifestations,pathological features,and prognostic outcomes.A comprehensive preoperative evaluation by a multidisciplinary team,incorporating both pathological and radiological assessments,is indispensable for tailoring individualized treatment strategies.In recent years,laparoscopic surgery has emerged as a promising modality for resection and reconstruction of abdominal wall tumors,particularly those deep-seated or intramural.Compared with conventional open surgery,laparoscopic surgery offers several advantages,including reduced tissue trauma,precise tumor resection,lower rate of postoperative complications,faster recovery,and enhanced cosmetic results.Nevertheless,the long-term efficacy and the breadth of applications of laparoscopic surgery in the management of abdominal wall tumors warrant further investigation through rigorous clinical trials.

Objective:To explore the clinical characteristics and risk factors of pediatric kidney transplantation (KT).Methods:From January 1, 2010 to September 30, 2022, retrospective analysis was performed for the relevant clinical data of 81 pediatric recipients of primary KT at Organ Transplant Center of Shanghai Changzheng Hospital. The occurrences of acute rejection (AR) ,delayed graft function (DGF), infection, myelosuppression, tumor and other complications were observed within 1 year post-KT. They were grouped according to whether or not AR/DGF occurred. Univariate analysis speculated the effect of AR and DGF on renal function at 1 year after transplantation. Binary Logistic regression was employed for examining the risk factors related to AR/DGF.Results:During follow-ups, transplanted kidney was removed due to an embolization of renal vessels and dialysis resumed (n= 5). One child had failed graft due to the recurrence of original disease and dialysis resumed. The remaining 75 children had an excellent recovery of graft function. At the end of follow-ups, survival for transplant recipients and transplanted kidneys was 100% (81/81 ) and 92.6% (75/81) respectively. 23 patients (28.4%) developed DGF, including 20 child recipients of C-I donors. Among DGF recipients, 21 (91.3%) were immune induced with anti-CD25 humanized monoclonal antibody and 2 (8.7 %) with porcine antihuman lymphocyte immunoglobulin (pALG). Within the first year post-KT, 13 patients (16.1%) developed AR, including 11 child recipients of C-I donors. Induction was made with anti-CD25 humanized monoclonal antibody (n=8), pALG (n=4) and anti-human T lymphocyte rabbit immunoglobulin (n=1). And 12 cases were reversed with MP (methylprednisolone) shock therapy while another ineffective case was rescued by an intravenous infusion of rATG (rabbit anti-human thymocyte immunoglobulin). During postoperative follow-ups, 14 (17.3 %) KT recipients had an onset of pulmonary infection (n=7), upper respiratory tract infection (n=3), urinary tract infection (n=5), gastrointestinal infection (n=2) and abdominal cavity infection (n=1). The causative pathogens were bacteria (n=14) and viruses (n=4). Among 7 cases (8.6%) of myelosuppression, there were leukopenia (n=6) and thrombocytopenia (n=1 ). During 1-year follow-ups, no malignancy occurred. At the last follow-up, blood creatinine was (72.79±21.07) μmol/L in non-AR/DGF recipients. For AR/DGF recipients, blood creatinine levels were (68.83±10.78) and (74.20±18.70) μmol/L. There was no significant inter-group difference ( F=0.14, P=0.87). In groups with and without DGF, the incidence of bone marrow suppression in the children with DGF was significantly higher (21. 74 %) than that in the untreated group (3.45%), with a statistically significant difference ( P=0.02). However, there was no statistically significant difference in the age, sex, donor source, infection, and types of immune-induced drugs in AR, DGF occurrence and no occurrence group. logistic Regression analysis showed that immunoinduction therapy with lymphocyte inhibitor ( OR=0.074, 95 %CI: 0.009-0.0643, P=0.018) and bone marrow suppression ( OR=0.045, 95%CI: 0.004-0.515, P=0.013) were risk factors for DGF. Conclusion:KT in children may obtain decent outcomes. Immunoinduction therapy with lymphocyte inhibitors and occurrence of myelosuppression are risk factors for postoperative DGF. The occurrence of AR/DGF in early postoperative period does not affect the level of kidney function in children at 1 year post-KT. It is recommended to closely follow up and accumulate experiences for optimizing long-term outcomes.

Objective:To observe the role of Huaiqihuang Granules (HQ) in the long-term management of bronchial asthma in young children, and the effective effect on concomitant rhinitis.Methods:A prospective real-world multicenter study was conducted in children aged 2-5 years with asthma diagnosed in the outpatient department (from April 2016 to March 2019)who received either inhaled corticosteroid (ICS)/leukotriene receptor antagonist (LTRA)(control group); inhaled ICS/LTRA plus HQ(combination group), or HQ alone(HQ group). All patients were followed up at week 4, 8, 12 after treatment. The number of days with asthma symptoms, the frequency of severe asthma attacks, the level of asthma control, and the days with rhinitis symptoms in the last 4 weeks were recorded. Differences before and after treatment, and those among groups after treatment were compared using Kruskal- Wallis H test or Wilcoxon rank-sum test. Results:A total of 2 234 eligible patients were recruited, and 2 147 cases completed followed-up visits, including 477, 1 374 and 296 cases in the control group, combination group, and HQ group, respectively. After the treatment, all 3 groups showed significant declines in the days with asthma symptoms, frequency of severe asthma attack and the days with rhinitis symptoms (all P<0.01), and the rate of well-controlled asthma increased significantly ( P<0.01). It lasted until the end of follow-up. Among groups, patients in the combination group showed significantly less days of asthma symptoms than those of the other 2 group at week 8 and 12[0(0, 0.9) d vs.0(0, 0.3) d, P<0.05; 0(0, 0.1) d vs. 0(0, 1.0) d, P<0.01]. Patients in the combination group and HQ group showed a significantly lower rate of severe asthma attacks than that of the control group at week 12 [0(0, 1), 0(0, 1), 0(0, 2), all P<0.05]. The well-controlled rate of asthma in the combination group was significantly higher than that of the control group and HQ group at week 8 and 12 (89.6% vs. 85.9% vs.82.1%, H=15.28; 90.9% vs. 84.1% vs. 81.8%, χ2=29.32, all P<0.01). Conclusions:HQ can significantly alleviate symptoms of asthma and rhinitis, severe attack of asthma, and increase the control rate of asthma when used as an additional treatment or used alone.

ObjectiveTo investigate the mechanism of anti-inflammatory effect of diallyl sulfide (DAS) in protection against acute lung injury (ALI) in rats with paraquat poisoning.Methods Eighty male Wistar rats were randomly divided into four groups, namely: control group, model group, dexamethasone (DXM) treatment group, and DAS treatment group, with 20 rats in each group. The model of paraquat poisoning was reproduced by single does of 70 mg/kg given by gavage, while the same volume of normal saline (NS) was given in same manner in control group. 100 mg/kg of DAS, the same volume of NS, or 1 mg/kg DXM injection were given respectively in DAS treatment group, model group, or DXM treatment group intraperitoneally after exposure to paraquat, once a day for 14 days. Five rats in each group were sacrificed at 1, 3, 7, 14 days, respectively. The inferior lobe of right lung was harvested, and the degree of lung injury was observed with hematoxylin and eosin (HE) staining under optical microscope; the upper lobe of right lung was used to determine the lung wet/dry weight (W/D) ratio and for evaluation of the degree of pulmonary edema. The expression of nuclear factor -κB (NF-κB) in the middle lobe of right lung was assessed with immunohistochemistry. The expression of tumor necrosis factor -α (TNF-α) mRNA in the left lung was determined with the reverse transcription-polymerase chain reaction (RT-PCR).Results① The pulmonary structure in control group was found to be intact. However, in the model group there were progressive pathological changes in lung, including marked edema and thickening of alveolar walls, collapse of alveoli, infiltration of inflammatory cells, alveolar wall, and obvious bleeding in the local lung tissue, and formation of transparent membrane in alveolar space. Less infiltration of inflammatory cells and no obvious destruction were found in alveolar structure in the DAS and DXM treatment groups.② Lung W/D ratio: lung W/D ratio of model group was apparently higher than that in control group at every time point, and peaking on the 3rd day (6.15±0.54 vs. 4.15±2.10,P< 0.05), and the ratio of lung W/D of DAS and DXM treatment groups was obviously lower than that in model group at every time point, especially on the 3rd day (3.99±1.26, 4.30±0.70 vs. 6.15±0.54, bothP< 0.05), but there was no significant difference between DAS and DXM treatment groups in this regard.③ The immunocytochemistry analysis revealed minimal NF-κBp65 expression in the cell nuclei of the control group, while extensive NF-κBp65 expression was found in model group. Minimal NF-κBp65 positive expression in the cytoplasm and even less positive expression in the nucleus was found in the DAS and DXM treatment groups, and integralA value was significantly lower in the DAS and DXM treatment groups than that of the model group, especially on the 3rd day [(17.98±0.06)×107, (18.53±0.04)×107 vs. (28.85±0.61)×107, bothP< 0.01], but there was no significant difference between DAS and DXM treatment groups.④ It was shown by RT-PCR that the expression of TNF-α mRNA in lung tissue of the model group was significantly higher than that in the control group on the 3rd day (gray value: 3.63±0.62 vs. 0.51±0.13, P< 0.05). The expression of TNF-α mRNA in lung tissue was significantly decreased in DAS and DXM treatment groups compared with model group (gray value: 2.49±0.57, 2.02±0.26 vs. 3.63±0.62, bothP< 0.05), but there was no significant difference between DAS and DXM treated groups.ConclusionTreatment with an intraperitoneally injection of DAS is capable of attenuate the extent of PQ-induced ALI in rats by alleviating pulmonary edema, inhibiting the expression of NF-κB and TNF-α in lung tissue, and ameliorating pathological changes in lung tissue.

This article was aimed to observe the preventive effect of diabetes with atherosclerosis (AS) treated with Bie-Jia-Jian Pill (BJJP) on level of blood lipids, endothelin (ET), nitric oxide (NO), and matrix metalloproteinase-9 (MMP-9). Male SD rats were randomly divided into 5 groups, which were the blank group, model group, low-dose BJJP group, high-dose BJJP group and Xue-zhi-kang (XZK) group, to observe changes on the level of blood lipids, ET-1, NO and MMP-9 within 5 groups after 8-week administration. The results showed that compared with the blank group, the level of the content of NO in the model group was significantly decreased (P< 0.05), the level of ET-1 was significantly increased (P < 0.05). Compared with the model group, the high-dose and low-dose BJJP group as well as XZK group can significantly decrease the level of ET-1 (P< 0.05, or P< 0.01), increase content of NO (P< 0.05, or P< 0.01), and decrease the expression of MMP-9 (P< 0.05). It was concluded that the BJJP can regulate blood lipids, protect endothelial cell of blood vessels, stabilize plaques for the anti-AS effect.

Objective To describe the temperature variation within 24 h of the children with congenital heart disease after open heart surgery , the incidence of fever and the relation between fever and clinical outcome, aiming to provide basis for clinical nursing .Methods The convenience sampling method was used to select 200 cases of children with congenital heart disease after open heart operation , collecting body temperature within postoperative 24 hours and clinical outcomes .Results The body temperature of children reached the peak after three hours of open heart operation , then it began to slow down .The fever rate of early postoperative period (within 24 h) was 63.5%.The demographic data of fever group (≥38.0 ℃) and no fever group (<38.0℃) had no significant difference(P>0.05), except for the aspect of clinical diagnosis (χ2 =10.641, P=0.001).The median of ICU stay length, the ventilation time and the total length of hospital stay in fever group and no fever group were 68.50 h and 46.00 h, 20.00 h and 16.00 h, 16.00 d and 12.00 d, which were significantly different (Z =-1.971,-1.998,-3.700, respectively;P<0.05).Conclusions The body temperatures of children with congenital heart disease after open heart operation reach the peak after three hours . More than half of postoperative children will appear postoperative fever , which could affect the clinical outcome .

Objectives To analyse the etiology and clinical characteristics of syncope in children. Methods The clinical data of 128 children with syncope were retrospectively analyzed. Results According to the definition of syncope and supporting test results, 20 cases of non-syncopal conditions were excluded. In 108 cases of syncope, there were 70 cases (64.81%) of neurally mediated syncope, 8 cases (7.41%) of cardiogenic syncope, and 24 cases (22.22%) of unexplained syncope. Eighty-five cases (78.71%) had incentives before the onsets. Twenty-one cases (19.44%) had the family histories of syncope. One case (0.93%) had the family history of sudden death. The neurally mediated syncope and cardiogenic syncope had the feature of recurrent attacks. The VVS were preceded by limbs weakness, pale complexion, darkness in front of eyes, hearing loss, nausea and chest pain, the POTS by palpitation, chest pain and weakness, the OH by darkness in front of eyes, pale complexion and hearing loss, and the car-diogenic syncope by precordial discomfort, pain and chest pain. Conclusions The VVS is one of the most common cause of syn-cope in children. The onsets of the various types of syncope often have incentives and are preceded by some symptoms. Most of them have the feature of recurrent attacks.