Objective A classification for hepatic venous outflow obstruction after piggyback liver transplantation (PBLT) and its clinical significance.Methods We conducted a retrospective study on 248 patients who underwent liver transplantation from May 2000 to August 2006.The aims were to elucidate the causes and treatment of postoperative venous outflow obstruction.Results Venous outflow obstruction occurred in 38 patients after transplantation.Among those,2 (5.26％) had superior hepatic inferior vena cava (IVC) stenosis,13 (34,21％) had the hepatic vein anastomosis twisted at an angle,7 (18.42％) had IVC stenosis at the posthepatic segment,and 16 (42.10％) had outflow obstruction at the hepatic veins.In these 38 patients,34 underwent PBLT,2 underwent APBLT,and 2 COLT.Most patients with hepatic venous outflow obstruction improved with surgical treatment and interventional therapy.Conclusions Hepatic vein outflow obstruction was associated with the technique of hepatic vein anastomosis,the type of cavocaval anastomosis and graft size mismatch between the donor and the recipient.Performing piggyback liver transplantation according to the classification of hepatic vein and appropriate treatments could improve the prognosis of venous outflow obstruction in clinical practice.

Objective:To investigate the utilization of total parenteral nutrition ( TPN) in a hospital to provide reference for the clinical rational drug use. Methods:The utilization and trend of TPN in the surgical inpatients during August 2012 to July 2013 in the hospital were analyzed statistically. Results:Totally 116 patients received TPN with 1 013 times, and the patients with gastrointestinal malignant tumor accounted for 48. 3%. The average use day was (8. 7 ± 3. 2) d and the total energy was within the range of 900-1 500 kcal. The number of prescription with glycolipid ratio below 1 was 878 (86. 7%), that with hot nitrogen ratio of 100-150 was 689 (68. 0%), that with monovalent cation concentration below 150 mmol·L-1 was 1 008 (99. 5%), that with divalent cation concentra-tion below 5 mmol·L-1 was 879 (86. 8%), that with glutamine was 765 (75. 5%) and that with sugar and insulin ratio (g:u) be-low 3 was 42 (4. 1%). Conclusion:The maln problem in the TPN application in the hospital is that glycolipid ratio in the majority of prescriptions is low, and irrational hot nitrogen ratio, excessive cation concentration and insulin dosage appeared in the minority of pre-scriptions. Clinicians should strengthen the learning of parenteral nutrition knowledge and clinical pharmacists should actively perform reasonable intervention in the TPN prescriptions to promote the reasonable TNP therapy and improve the therapeutic effect.

Marginal liver donor,a way to expand the liver pool,has been maximized in the unique position due to the shortage of donors.But the definition of marginal donor liver varies from center to center and the standard is very complex.With the enhancement of organ perfusion solution,preservation methods and surgical techniques,the edge donor criteria are also gradually expanding.What decision should we make,facing such clinical controversies.This paper makes a review on the marginal liver donor in the donation after citizen deceased,so as to improve its clinical application.

Objective To investigate the clinical manifestations in patients with 22q11.2 deletion syndrome (22q11.2DS) to improve the understanding of the disease.Methods Twenty patients with 22q11.2 DS were enrolled from Children's Hospital of Fudan University between August 2008 and April 2014.Cytogenetic and molecular genetic methods included fluorescence in situ hybridization (10 cases),and multiplex ligation-dependent probe amplification (10 cases).Age at the time of the diagnosis,sex and clinical manifestations were analyzed.Results The subject group consisted of 20 patients.Among them,13 cases (65％) were male and 7 cases (35％) were female.The median diagnostic age was 3.9 months.The presence of congenital heart diseases was identified in 17 patients (85％) and surgical correction was performed in 9 cases of them.The most frequent of complex congenital heart diseases were tetralogy of Fallot (20％) and pulmonary atresia (20％).Ten patients had varying degrees of T-cell immune function defects.Decrease in total lymphocytes and only CD8 counts were present in 45％ and 5％,respectively.Hypogammaglobulinemia was not detected in any patient.Six eases with T-cell immune function defects were treated with thymosin,4 of which were followed up for months,and the prognosis was good.Hypocalcemia was detected in 6 patients (30％),3 of whom presented with hypocalcemic seizures and hypoparathyroidism.Craniofacial dysmorphisms were detected in 3 patients(15％),2 of them only presented with micrognathia.Otorhinolaryngologic abnormalities were found in 4 cases (20％),3 of whom had laryngeal abnormalities,one of whom had cleft palate.Psychomotor developmental delay was found in 9 cases.Conclusions Congenital heart defects,hypocalcemia and/or impaired immune function are diagnostic features for 22q1 1.2 deletion syndrome,and they should be considered for cytogenetic analysis.

Objective To investigate the clinical and laboratory diagnosis in a rare case with dwarifsm and multisystem abnormalities. Methods Whole-exome sequencing was performed and data was processed using high-throughput data analysis pipeline. Genetic test result is veriifed by Sanger sequencing. Results This is a 14-year-old boy with short stature (the height is 132 cm) and autoimmune hemolytic anemia. He was treated with long-term oral prednisone. Head CT from other hospital found multiple calciifcations on both sides of the basal ganglia, two sides of the frontal lobe, and the left side of parietal lobe. Lateral spinal X-ray photography showed lfat in thoracolumbar vertebral body. Valgus was surgically corrected. He also has facial pigmentation spot and onychomycosis. Whole-exome sequencing combined with Sanger sequencing identiifed a known homozygous pathogenic mutation in ACP 5 genes (c. 643 G>A, p.G 215 R). Identiifcation of such a mutation results in the diagnosis of spondylo enchondrody splasia with immune dysregulation (SPENCDI). Conclusions Whole-exome sequencing is one of the effective methods for detection of rare disease, the SPENCDI case reported here is a good example of it.

Objective To investigate the changes of expression of peroxisome proliferator-activated receptor γ (PPARγ) and its coregulators and monocyte chemotactic factor (MCP-1) treated with intedeukin-1β (IL-1β), and to analyze the mechanism of interaction of these factors. Methods Renal tubular cells (HK-2 cells) were cultured in vitro. Total cellular RNA was isolated for real-lime quantitative polymerase chain reaction (real-time PCR), nuclear extracts were prepared for Western blot analysis and EMSA. The supernatant was collected for ELISA after the treatment of IL-1β at different concentrations and time points. Results Under stimulus of different concentrations of IL-1β (0～20 μg/L) for 24 hours, the mRNA expression of PPARγ, SRC-1, SRC-2 and PGC-1 decreased significantly (P<0.05), meanwhile NCoR increased obviously (P<0.05). In further time-dependent experiment, the mRNA levels of SRC-2 and PGC-1 decreased by 57% and 48%, respectively, at 1 hour after treatment with 10 μg/L IL-1β (P<0.05). The expression of SRC-1 decreased by 43%only after 2 hours (P<0.05). The expression of NCoR was not obviously changed until stimulated by IL-1β for 8 hours (2.17 folds, P<0.05), then it decreased slowly. In the same time-dependent experiment, Western blot analysis showed that IL-1β (10 μg/L) significantly decreased the protein level of PPARγ at 4 hours (P<0.05). ELISA analysis revealed that the secretion of MCP-1 kept on rising and reached the peak (160.56±2.80) ng/L at 8 hours (P<0.01), then decreased to (50.82±1.25) ng/L at 24 hours (P<0.01). IL-1β could down-regulate the DNA binding activity of PPARγ, and the activity of NF-κB was up-regulated. Conclusions PPARγ and its eoregulators are closely related to MCP-1 and NF-κB during inflammation response in kidney. The activation of NF-κB by IL-1β leads to the decrease of PPARγ, and its coactivators expression levels, however the expression of MCP-1 and NCoR in renal tubular epithelial cells is up-regulated. PPARγ together with its coregulators participate in the inflammation response in kidney.

ObjectiveTo investigate the role of MG-132, a specific dipeptide proteasome inhibitor, on the proliferation, apoptosis and the related proteins in renal interstitial fibroblasts. MethodsRenal interstitial fibroblasts (NRK-49F) were induced by transforming growth factor β1 (TGF-β1, 5 μg/L) and pro-treated with MG-132 (0～5 μmol/L). The cell proliferation was measured with MTT method. Cell cycle and apoptosis were analyzed by flow cytometry. The apoptosis was also analyzed by Annexin V/PI staining and DNA ladder. Expression of p53, p27, p21, caspase-3, Bcl-2 and Bax protein was examined by Western blot. ResultsTGF-β1 (5 μg/L) could stimulate the proliferation of NRK-49F. MG-132 (0.25～5 μmol/L) could inhibit TGF-β1-induced proliferation in a dose-dependent manner through G1-arrest. TGF-β1 alone could not induce apoptosis (3.880%±0.365% vs 4.723%±1.582%). But pretreatment of MG-132 (0.1～2.5 μmol/L) could significantly induce apoptosis of TGF-β1-stimulated NRK-49F in a dose-dependent manner. Typical DNA ladder was also confirmed in these two groups in the DNA fragments analysis after being incubated with 2.5 μmol/L MG-132 with or without 5 μg/L TGF-β1. Western blot showed that MG-132 could activate the cell-cycle and apoptosis-related proteins such as p53, p21, caspase-3, Bax and inhibit Bcl-2 in a dose-dependent manner, while expression of p27 remained unchanged. ConclusionsProteasome inhibitor MG-132 can inhibit proliferation and induce the cell apoptosis in renal interstitial fibroblasts stimulated by TGF-β1. The mechanism may be associated to the mediation of p53, p21, caspase-3, Bcl-2 and bax pathways. Protoasome inhibitor may be a new strategy to treat renal interstitial fibrosis.

Objective To explore the effect of electroacupuncture at Quchi (LI11) and Zusanli (ST36) acupoints on motor behaviors, the axonal integrity and nerve bundle of motor cortex and striatum in rat model of ischemic stroke induced by middle cerebral artery occlusion (MCAO) using diffusion tensor imaging (DTI). Methods Thirty-six adult male Sprague-Dawley rats were randomly assigned to sham opera-tion group (sham group), ischemia control group (model group) and electroacupuncture treatment group (EA group) with twelve rats in each group. The later two groups were occluded their middle cerebral arteries for two hours. Twenty-four hours after modeling, EA group re-ceived electroacupuncture at Quchi (LI11) and Zusanli (ST36) acupoints on the paralyzed limb, once a day, for 14 days. They were assessed with modified Neurological Severity Scores (mNSS) and Rota-rod test, and scanned with small animal magnetic resonance imaging system for T2-weighted image (T2WI) and DTI, the infarct size, related fractional anisotropy (rFA) and related number of tracks of motor cortex and striatum were recorded. Results Compared with the sham group, the score of mNSS increased in the model group and EA group after model-ing, and was lower in EA group than in the model group seven days and 14 days after intervention (P<0.05). Rota-rod test showed that the retention time was significantly longer in EA group than in the model group (P<0.05). T2WI showed that the infarct size was smaller in EA group than in the model group (P<0.05). DTI showed that rFA in motor cortex and striatum was higher in EA group than in the model group (P<0.05), as well as the related number of tracks (P<0.05) in motor cortex. Conclusion Electroacupuncture at Quchi and Zusanli acupoints could improve the motor function in rats with ischemic stroke, which may be related to the recovery of nerve bundle of motor cortex and stri-atum in ischemic side.

Objective To observe the effect of electroacupuncture at Baihui (GV20) and Shenting (GV24) on learning-memory function and ultrastructure in hippocampal CA1 region of rats after cerebral ischmeia-reperfusion. Methods A total of 25 male Sprague-Dawley rats were randomly divided into sham group (n=6) and operation group (n=19). The operation group was occluded the left middle cerebral arter-ies with modified Longa's methods for 90 minutes and reperfused, and twelve qualified rats of them were randomly divided into model group (n=6) and electroacupuncture group (n=6), the later accepted electroacupuncture at Baihui and Shenting for seven days. They were as-sessed with Longa's scores, and tested with Barnes maze. Their cerebral infarct volume was tested with magnetic resonance imaging T2-weighted image. The ultrastructure of synapse in hippocampal CA1 region was observed with transmission electron microscope. Results Compared with the model group, the Longa's score improved (P<0.05), the infarct volume decreased (P<0.01), the average escape latency decreased (P<0.01) and the times entering the wrong hole decreased (P<0.001) in the electroacupuncture group. Under the transmission elec-tron microscope, the number of synapse decreased in the model group, with the structure damage and vesicles sparse;compared with the model group, the number of synapse increased in the electroacupuncture group, with clear and complete structure and rich vesicles. Conclu-sion Electroacupuncture at Baihui and Shenting can improve the learning-memory function in rats after cerebral ischmeia-reperfusion, which may relate to improvement of synaptic plasticity and ameliorating ultrastructure in hippocampal CA1 region.

Objective:To investigate the clinical and genetic features of 3-methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome(MEGDHEL syndrome) caused by SERAC1 gene variation. Methods:This study retrospectively described the clinical and molecular features and prognosis of a baby boy who was transferred to Children's Hospital of Fudan University and later diagnosed with MEGDHEL syndrome in August 2016. A summary of the clinical and genetic manifestations of MEGDHEL syndrome cases reported in China and foreign areas was conducted through a literature review.Results:(1) Case report: The 2-day-old patient was transferred to Children's Hospital of Fudan University due to hyperlactic acidemia after birth. Physical examination revealed scattered petechiae and ecchymoses of the skin. Laboratory examination showed coagulation disorders and cranial MRI revealed abnormal signals in both basal ganglia. A homozygous variation of c.442C>T(p.Arg148*) in the SERAC1 gene was detected in the patient, which is a pathogenic variant included in the Human Gene Mutation Database. Both of his parents were heterozygous carriers, thereby the diagnosis of MEGDHEL syndrome was confirmed. Followed up to the age of three years and 11 months, he was found to have psychomotor retardation, spasticity, dystonia, deafness, and loss of language ability. (2)Literature review: Together with the case reported in this study, a total of 88 cases were retrieved, involving 57 different variants. The clinical features were homogenous, with onset mostly in the neonatal period (72%, 62/86), and severe reversible liver dysfunction (49%, 38/77) and neonatal hypoglycemia (44%, 35/80) were the main features. Nervous system was affected since infancy and common symptoms, included hypotonia (86%, 68/79), progressive spasticity (82%, 67/82), dystonia (80%, 66/82), intellectual disability (88%, 58/66) and sensorineural hearing impairment (74%, 59/80). Furthermore, bilateral basal ganglia involvement on cranial MRI (93%,70/75) and 3-methylglutaconic aciduria (98%,80/82) were also seen. Supportive care is currently the main management, however, the prognosis is extremely poor. Conclusions:MEGDHEL syndrome should be highly suspected when reversible neonatal liver dysfunction or hypoglycemia of unknown reasons in neonatal period, followed by progressive deafness-dystonia syndrome in infancy. As the prognosis of these patients is usually poor, genetic testing may provide an early diagnosis in neonatal period.