Objective To analyze the association of staphylococcal nuclease domain-containing protein 1(SND1) and T-cell intracellular antigen 1(TIA-1) on stress granules, and the regulation of SND1 on stress granules under stress stimuli. Methods The immunofluorescence assay and laser scanning confocal microscopy were used to observe the co-localization of SND1 protein and TIA-1 protein under stress stimuli, and the over-expression plasmids of pEGFP vector were transfected into HeLa cells and to verify which domain of SND1 co-localized with TIA-1 under stress stimuli. RNA interference-mediated knockdown of the expression of SND1 protein in HeLa cells was measured by Western Blotting assay. Then whether the knockdown of SND1 affected the recruitment of TIA-1 on stress granules was observed. Heat shocks under different times were used to identify whether there were dynamic changes in transportation of SND1 and TIA-1 on stress granules. Results SND1 co-localized with TIA-1 on stress granules under stress stimuli, and the associated domain of SND1 were SN domain. TIA-1 still can be recruited on stress granules but a large amount of stress granules were reduced even though the expression of SND1 protein was decreased. And the transportation of SND1 on stress granules was laged behind TIA-1 under different-times of heat shocks. Conclusion SND1 protein co-localizes with TIA-1 on stress granules, and which co-regulates the cellular stress response under stress stimuli.

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 compare the efficacy and safety of 1.9 μm thulium laser with transurethral resection of bladder tumor(TURBT) for the treatment of superficial bladder cancer.Methods We reviewed 53 patients with superficial bladder cancer,who were divided into 1.9 μm laser (n =25) and TURBT groups (n =28) from January 2013 to December 2015.The operation time,blood loss volume in operation,catheter indwelling time,hospital stay time,and complications,cumulative recurrence rate were compared between the two groups.Results Compared to TURBT group,1.9 μm laser group showed significantly lower rate of blood loss volume in operation (21.6 ± 4.6) min,catheter indwelling time (22.4 ± 6.4) h,hospital stay time (2.2 ± 0.7) d,less complications (12％)and recurrence(16％) (P ＜ 0.05).Conclusions 1.9 μm thulium laser is safe and effective for the treatment of patients with superficial bladder cancer.The approach has less complications than TURBT.

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 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.

Objective To discuss the diagnostic value of peritoneal effusion detection by emergency-ultrasound in patients with closed abdominal injury. Method From August 2006 to June 2009,212 patients with closed abdominal injury were studied to evaluate peritoneal effusion detection by emergency ultrasound. Results of 212 patients,peritoneal effusion frequency rate was 78.8%( 167/212), meanwhile,abdominal paracentesis confirmation ratio was only 46.2%(98/212). In the follow-up, 13 patients with injuried hollow viscera and 1 patient with rupture of kidney showed peritoneal effusion. The volume of abdominal fluid was increasing in 17 patients,which needed to be managed by surgery. The accuracy rates were respectively 78.3%( 112/143) and 36.1%(13/36) in the solid organs and the hollow organs. Conclusion During the course of diagnosis and treatment in closed abdominal injury,peritoneal effusion monitoring by ultrasound should be used routinely, which can help to decrease the rate of misdiagnosis and avoid delayed treatment.

Objective To investigate gender differences in the prevalence of metabolic syndrome (MS) and to explore the relationship between intra-abdominal fat thickness and MS and its components with respect to gender differences. Methods Based on gender and IDF AHA/NHLBI criteria used to diagnose MS,205 middle-aged and elderly urban residents were divided into a male MS group (124 patients) and a female MS group (81 patients). The relative indices and the thickness of intra-abdominal fat were measured. Results The prevalence of MS was observed to be higher in men (P < 0.01). A greater number of men than women showed waist circumference and blood glucose abnormalities,but fewer men than women showed high-density lipoprotein cholesterol (HDL-C) abnormalities (P < 0.05). Multivariate logistic regression analysis showed that after adjusting for potential confounding factors,intra-abdominal fat thickness was an independent predictor in men,but not in women (men:OR = 1.304,95％CI:1.014-1.676,P = 0.039,women:OR = 1.257,95％CI:0.984-1.605, P = 0.067). Intra-abdominal fat thickness was linearly correlated with age,waist circumference,and the 2-hour insulin levels in men,but only linearly correlated with waist circumference in women. Conclusion Prevalence of MS and MS components varies between genders. Intra-abdominal fat thickness was an independent predictor of MS in men. The role of intra-abdominal fat thickness as a determinant of MS in men can not be replaced by the waistline circumference alone as determined in women.

Atherosclerosis (As) is an important pathological basis of cardiovascular and cerebrovascular diseases. The pathogenesis studies of As have been a hot topic in the field of vascular biology research. The inflammation is known as a major participant in the development process of As. And monocyte-macrophage plays a central role in inflam-mation. In recent years, with the deepening research on inflammatory mechanisms, the As macrophage polarization is attracting researchers' attention. Under different environmental inductions, macrophages develop into M1 and M2 phenotypes. M1 macrophages (classical type), which can stimulate the secretion of pro-inflammatory cytokines, is generally considered as pro-inflammatory subtypes and can facilitate the progress of As. Whereas, M2 macrophages (alternative type), which can inhibit pro-inflammatory factor production, function as anti-inflammatory subtypes and likely to inhibit the progression of As. The mechanisms of As, macrophage polarization in As, and opportunities for herbal medicines will be summarized in this review.

OBJECTIVETo study the effect of bleaching on the mechanical properties of human dentin.

METHODSThe finite element method (FEM) based the cohesive zone model had been employed to study the fracture resistance of human dentin. There types of dentin were considered, i.e. original dentin, dentin after direct-bleaching and indirect-bleaching.

RESULTSThe bleaching treatments had large impact on the crack growth resistance of human dentin. The initiation toughness (1.48 MPa x square root of m), growth toughness (3.90 MPa x square root of m x mm(-1)) and plateau toughness (3.25 MPa x square root of m) of human dentin were reduced to 1.29 MPa x square root of m, 3.45 MPa x square root of m x mm(-1) and 2.71 MPa x square root of m respectively after indirect-bleaching. The worst case was the direct-bleaching which causes significant reductions in the growth toughness (0.14 MPa x square root of m x mm(-1)) and plateau toughness (1.63 MPa x square root of m) respectively, while the initiation toughness remained the same as that after indirect-bleaching.

CONCLUSIONThe cohesive zone modeling is an effective tool in characterizing the fracture behavior of human dentin. Bleaching treatments reduce the crack growth resistance of human dentin and increase the risk of fracture of teeth.

Objective To explore the clinical and genetic characteristics, treatment. and prognosis of dopamine responsive dystonia (DRD) in children. Method The clinical data of DRD in 3 children admitted to neurology clinic from January 2014 to August 2017 were retrospectively analyzed. Results Two male children, 20-month-old and 2-year-old respectively, and one 4-year-old female child suffered from hypotonia after birth or one year after birth. Genetic testing found that case 1 had heterozygous mutations in tyrosine hydroxylase (TH) gene, C. G943A (p. G315S) from his mother (PMID 20056467) and C. G739A (p. G247S) from his father (PMID 18554280, 24753243) . Case 2 had a heterozygous mutation, c.454-2A＞G, in GCH-1 gene, which was identified to be from his father (PMID 10732814) . Case 3 had two mutations in TH1 gene, c.580+2T>C from her mother (novel mutation) and c.698G>A (p.R233H) from her father (PMID 9703425) . The mother of case 1 was pregnant again. Prenatal examination revealed that the fetus only carried c.G943A (p.G315S) from the mother. Three patients were treated with a small dose of madopar after diagnosis, and gradually increased to obtain the best effect. After 6-month follow-up, cases 1 and 2 recovered to normal, and case 3 showed significant improvement in dystonia, but left foot deformity. Conclusion DRD can start in infants and young children with atypical early symptoms. Genetic testing can make a definite diagnosis. The family that has proband should undergo prenatal examination.