To have better clinical understanding of Schimke immuno-osseous dysplasia(SIOD) through analyzing the clinical features, treatment, and prognosis of four patients with SIOD.

Mutations in the SAMD9 and SAMD9L genes are associated with MIRAGE syndrome and ATXPC syndrome, respectively. This study reports the clinical characteristics and genetic analysis of one case with SAMD9 mutation (c.3809T > A, p.F1270Y) and two cases with SAMD9L mutations (c.2675T > G, p.M892R; c.1096T > G, p.F366V and c.4517T > C, p.L1506p), none of which have been previously reported. All patients presented with recurrent infections, growth retardation, and myelodys-plasia, with varying degrees of involvement of multiple systems, including respiratory, gastrointestinal, immune, endocrine, neurological, and reproductive systems. In terms of treatment, two patients underwent regular intravenous immunoglobulin and their clinical symptoms improved, while one patient had a favorable recovery following hematopoietic stem cell transplantation at the age of 1 year and 5 months of age. SAMD9/SAMD9L gene mutations, therefore, chould be considered in children with recurrent infections, myelodysplasia, pancytopenia, and growth retardation. Early genetic testing is crucial for timely diagnosis and treatment, which may improve patient outcomes.

Objective:To investigate the current situation of cytomegalovirus (CMV) infection in infants in Lishui, and summarize the related factors of CMV infection, evaluate its influence on the growth and development of infants, and provide evidence for the prevention and control of CMV infection.Methods:In this study, 2 254 cases of infants admitted in pediatric ward in Lishui Maternal and Child Health Hospital, Qingtian County People′s Hospital, Suichang County People′s Hospital, Qingyuan County People′s Hospital from January 1, 2015 to December 31, 2017 with integral clinical data were selected. All the babies were followed up from the time when they were born to 1 year old. The serum CMV antibody and the urine CMV-DNA were screened, the general situation and clinical features of CMV infection were summarized, and the relevant factors of infants CMV infection were analyzed and screened by the single factor and multiple factors analysis. They were followed up to 1 year old to clarify the influence of CMV infection on the growth and development of infants.Results:From 2015 to 2017, the total positive infection rate of CMV-IgM in infants under 1 year old in Lishui was 10.43%(235/2 254), and CMV-IgM positive infection decreased year by year. The positive rate of CMV-IgG did not change significantly with time. The positive rate of CMV-IgM was the highest at 1—3 months, and up to 15.29% (61/399). The positive rate of CMV-IgM decreased with the age of the babies. The positive rate of CMV-IgG increased with the age of the babies. The positive rate of CMV-IgM in infants showed no significant difference in gender ( P>0.05). The positive rate of CMV-IgM was higher in men than that in women [65.43% (810/1 238) vs. 55.51% (564/1 016)], and there was significant difference ( P<0.05). The gestational age of the infected group was lower than that of the non-infected group [(37.41 ± 1.63) weeks vs. (38.97 ± 0.97) weeks], and the breast-feeding rate of the infected group was higher than that of the non-infected group [57.87%(136/235) vs. 40.00%(40/100)], and there were significant differences ( P<0.05). Thrombocytopenia, the increase of transaminase, necrotizing enterocolitis of newborn, and hepatosplenomegaly of infected group is higher that of the non-infected group [18.72%(44/235) vs. 1.00% (1/100), 29.36% (69/235) vs. 13.00% (13/100), 26.81% (63/235) vs. 10.00% (10/100), 9.79% (23/235) vs. 0], and there were significant differences ( P<0.05). Gestational age and breast-feeding were possible risk factors for CMV infection in infants under 1 year old ( P<0.05). There was no significant difference in height, weight, head circumference and intelligence score between the infected group and the non-infected group at the age of 1 year ( P>0.05). The total abnormal rate of hearing development and the abnormal detection rate of B-ultrasound in the infected group were higher than those in the non-infected group [13.62%(64/470) vs. 1.00%(2/200), 6.38%(15/235) vs. 0], and there were significant differences ( P<0.05). Conclusions:The CMV active infection rate of infants under 1 year old in Lishui is relatively high and decreases year by year. It decreases with the prolongation of birth time, and there is no gender difference. Gestational age and breast-feeding are the risk factors for active CMV infection in infants. CMV infection affects the hearing development and the brain development of infants under 1 year old, which is the main cause of hepatitis. It is necessary to pay attention to the prevention of CMV infection, strengthen maternal perinatal health care, and strengthen the screening of CMV infection in high-risk groups.

Objective Hepatic artery (HA) reconstruction is one challenging procedure in pediatric liver transplantation (PLT).Here we review the first 115 microsurgical reconstructions of HA in PLT performed by a single surgeon,aiming to demonstrate the learning curve and the problems encountered.Methods From July 2016 to January 2017,a series of 115 microsurgical reconstructions of HA in PLT for end-stage liver disease were finished by one single surgeon with 4-year liver surgery experience and 2-week microsurgical training.HA reconstruction was performed with an operating microscope (Carl-Zeiss S88).Reconstruction was completed with interrupted sutures with 8-0 or 9-0 Prolene using the double clip for fixation.The blood flow was examined by Doppler scan daily after PLTs in first week and then once in 2nd week and first month for patency.A total of 143 artery anastomoses were performed in 115 PLTs.The age ranged from 3 months to 9 years.Indications for PLT included biliary atresia (105/115),Alagille syndrome (5/115),PFIC (3/115),Caroli disease (1/115),methylmalonicacidemia (1/115) and glycogen storage disease (1/115).Most of the PLTs were living donor liver transplantation (107/115),along with OLT (5/115) and split LT (3/115).Results The diameter of the arteries was mostly less than 2 mm (98/115).Up to date,one HA thrombosis (HAT) occurred at D8 after LT and 4 cases suspected as temporal HA stenosis (HAS) around 2 weeks after LT,which manifested as low velocity (<20 cm/s) and resistance index (<0.50) by Doppler.The HAT case failed in emergent re-anastomosis,but had a spontaneous recanalization at 3 weeks and is now in good condition without biliary problem.All the HAS children recovered to normal flows at first month.All children with HA complications started warfarin upon detection,with a targeted INR between 1.5-2.0.There were 6 deaths in this series including 5 cases of infections and 1 case of graft failure.Learning curve suggested a two phases growth (first 44 cases practicing phase vs.next 71 cases mature phase),which can be attributed to experience accumulation in terms of precise of manipulation,choice of inflow arteries for better match and stronger pulsation,avoidance of length redundant,prevention of kink.All the HAT and HASs happened in practicing phase while outcomes were excellent in mature phase.Moreover,time for each anastomosis was significantly shortened in second phase from 45-70 min to 30-55 min.Conclusion Microsurgical technique is highly safe in pediatric HA reconstruction,especially for very tiny arteries.It is possible to achieve low risk of complications for a new surgeon with adequate experience in liver surgery and microsurgical training.However,more surveillance and timing anticoagulation therapy is required before the mature of microsurgical technique.

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 effects of Leptospira interrogans ( L. interrogans) infec-tion on the activities of NADPH oxidase ( nicotinamide adenine dinucleotide phosphate-oxidase) and the lev-els of reactive oxygen species (ROS) in THP-1 and J774A. 1 cells and to understand the bactericidal mecha-nisms of macrophages in different hosts against L. interrogans. Methods Human mononuclear macrophage cell line (THP-1 cells) and murine mononuclear macrophage cell line (J774A. 1 cells) were infected with L. interrogans strain 56601. The activities of NADPH oxidase and the levels of superoxide ion ( O-2 ) were measured with spectrophotography. Changes in the levels of ROS were detected with immunofluorescence as-say. Results Compared with the normal cells, the activities of NADPH oxidase in L. interrogans-infected J774A. 1 cells changed from 0. 619 0 μmol · min-1 · mg-1 to 0. 305 5 μmol · min-1 · mg-1 , 6. 141 5μmol·min-1 ·mg-1 , 1. 487 1μmol·min-1 ·mg-1 and 0. 964 6μmol·min-1 ·mg-1 after 2, 4, 12 and 24 hours of infection, respectively (P<0. 05), while the activities of NADPH oxidase in L. interrogans-infected THP-1 cells were up-regulated from 0. 723 5μmol·min-1 ·mg-1 to 0. 884 2μmol·min-1 ·mg-1 , 1. 897 1μmol·min-1 ·mg-1 , 1. 125 4 μmol·min-1 ·mg-1 and 0. 562 7 μmol·min-1 ·mg-1 , respectively ( P<0. 05). The levels of O-2 in L. interrogans-infected J774A. 1 cells at the time points of 2 h, 4 h, 12 h and 24 h after infection increased from 0. 189 0μmol/L to 0. 236 3μmol/L, 0. 297 7μmol/L, 0. 324 0μmol/L and 0. 305 7 μmol/L, respectively (P<0. 05), while the levels of O-2 in L. interrogans-infected THP-1 cells rose from 0. 123 7 μmol/L to 0. 149 3 μmol/ L, 0. 249 0 μmol/ L, 0. 270 0 μmol/ L and 0. 272 7μmol/L, respectively (P<0. 05). The fluorescence intensity of ROS in THP-1 and J774A. 1 cells increased gradually after infection with L. interrogans for 2 h and decreased after reaching the peak at 24 h. Conclu-sion Both the activities of NADPH oxidase and the levels of O-2 in J774A. 1 and THP-1 cells were signifi-cantly upregulated after infected with L. interrogans, especially in J774A. 1 cells. The results of this study provided references for further elucidating the bactericidal mechanisms of macrophages in different hosts against L. interrogans.

Objective To analyze the effects of Leptospira interrogans ( L. interrogans) infection on the activation of NLRP3 in THP-1 and J774A. 1 cells and to further understand the mechanism of inflam-mation caused by L. interrogans in different hosts. Methods Human mononuclear macrophage cell line (THP-1) and murine mononuclear macrophage cell line (J774A. 1) were infected with L. interrogans strain 56601. The expression of NLRP3 at mRNA and protein levels were measured by using real-time RT-PCR and flow cytometry analysis, respectively. The NLRP3-mediated secretion of IL-1β, IL-18 and IL-33 was detec-ted by ELISA combined with the NLRP3 inhibitory test. Results Compared with the normal cells, the ex-pression of NLRP3 at mRNA level in L. interrogans-infected THP-1 cells was respectively increased by 4. 05, 0. 34, 0. 33, 0. 06 and 1. 66 times at the time points of 1 h, 2 h, 4 h, 12 h and 24 h after infection ( P<0. 05), while that in L. interrogans-infected J774A. 1 cells was respectively increased by 12. 98, 16. 19, 10. 68, 5. 8 and 0. 57 times (P<0. 05). The expression rates of NLRP3 protein in THP-1 and J774A. 1 cells respectively increased from 9. 26% to 94. 01%, 89. 24%, 31. 80%, 19. 74%, 11. 28% and from 18. 71%to 58. 78%, 43. 64%, 36. 42%, 76. 46%, 85. 21% at the time points of 1 h, 2 h, 4 h, 12 h and 24 h af-ter L. interrogans infection (P<0. 05). The level of IL-1β in L. interrogans-infected THP-1 cells was 73. 07 pg/ml, 939. 24 pg/ml, 939. 24 pg/ml, 843. 22 pg/ml and 851. 06 pg/ml at the time points of 1 h, 2 h, 4 h, 12 h and 24 h, respectively (P<0. 05), while the level of IL-1β in L. interrogans-infected J774A. 1 cells began to rise at the time point of 12 h from 191. 17 pg/ml to 254. 4 pg/mL at the time point of 24 h (P<0. 05). The level of IL-18 in L. interrogans-infected THP-1 cells was 913. 89 pg/ml, 808. 19 pg/ml, 483. 54 pg/ml, 204. 19 pg/ml and 189. 09 pg/ml at the time points of 1 h, 2 h, 4 h, 12 h and 24 h, re-spectively (P<0. 05), while the level of IL-18 in L. interrogans-infected J774A. 1 cells increased at the time point of 24 h, which was 113. 37 pg/ml (P<0. 05). A slight increase in the level of IL-33 was detected in L. interrogans-infected J774A. 1 cells at the time points of 12 h and 24 h to 201. 14 pg/ml and 155. 68 pg/ml, respectively (P<0. 05), but no significant change was detected in L. interrogans-infected THP-1 cells (P>0. 05). Results of the inhibitory test showed that the up-regulation of IL-1β , IL-18 and IL-33 in THP-1 and J774A. 1 cells were effectively inhibited by the specific inhibitor of NLRP3. Conclusion NL-RP3 inflammasome was activated and involved in the production of specific inflammatory cytokines IL-1βand IL-18 in both THP-1 and J774A. 1 cells after L. interrogans infection, but the inflammatory cytokines induced by L. interrogans infection varied in different cells. L. interrogans induced earlier and higher level of IL-1βand IL-18 production in human macrophages than in murine macrophages.

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 expression of inducible nitric oxide synthase ( iNOS) and the levels of nitric oxide (NO) in THP-1 and J774A. 1 cells during Leptospira interrogans (L. interrogans) infection for a better understanding of the mechanism of macrophages involved defense against L. interrogans strains in different hosts. Methods The human mononuclear macrophages (THP-1) and the murine mono-nuclear macrophages (J774A. 1) were infected with L. interrogans strain 56601. The expression of iNOS at mRNA and protein levels were determined by using real-time RT-PCR and flow cytometry analysis. The lev-els of NO were detected with Griess test. Results The expression of iNOS at mRNA level in J774A. 1 and THP-1 cells infected with L. interrogans strains for 2, 4, 12 and 24 hours were respectively 1. 37, 2. 82, 25. 76, 27. 47 times and 1. 59, 3. 98, 3. 89, 8. 81 times than that of cells without infection (P<0. 05). The expression rates of iNOS protein in J774A. 1 cells were increased from 34. 16% to 85. 85%, 93. 82%, 91. 77% and 93. 65% along with the increased time of infection time (P<0. 05). The expression rates of iNOS protein in THP-1 cells were up-regulated from 22. 08% to 72. 64%, 81. 33%, 80. 03% and 65. 72%after 2, 4, 12 and 24 hours of infection (P<0. 05), respectively. Results of the Griess test indicated that the levels of NO in J774A. 1 and THP-1 cells were respectively increased from 0. 1588 μmol/L to 0. 2208μmol/L, 0. 2668μmol/L, 0. 3808μmol/L, 0. 3828μmol/L and from 0. 0988μmol/L to 0. 2848μmol/L,0. 3228 μmol/L, 0. 2608μmol/L and 0. 3308μmol/L after infection with L. interrogans strains for 2, 4, 12 and 24 hours (P<0. 05). Conclusion The expression of iNOS and the levels of NO in J774A. 1 and THP-1 cells were significantly increased during L. interrogans infection. This study might help to explain the bactericidal mechanism of macrophages derived from different hosts against L. interrogans infection.

BACKGROUND:There is no unified measure of bone tissue mechanical property test at present. The study concerning traditional sensor for fracture displacement had some problems such as low precision, and high consumption cost.
OBJECTIVE:To measure the displacement of plate and screw after internal fixation for fracture of humerus using digital speckle method.
METHODS:A total of eight humeral specimens were taken. The steel plate fixation model in the humerus 1/2 was made. The specimens were fixed using eight-hole steel plate, and four screws were fixed on each end of fracture line. Five conditions of experimental model were designed for comparative analysis. Condition a:compression plate fixation group (not saw off, to simulate fracture healing). Condition b:on the basis of sawing off in condition a, one screw was removed on the proximal end. Condition c:on the basis of condition b, one screw was removed on the distal end. Condition d:on the basis of condition c, one screw was removed on the distal end. Condition e:on the basis of d, one screw was removed on the distal end. The screws were numbered No. 1-8 from top to bottom. That is, the screws on upper fracture line were numbered No. 1-4, and those on the lower fracture line were numbered No. 5-8. The specimens were instal ed on electronic universal testing machine, and loaded 100 N and 500 N. The displacement was calculated using the related software.
RESULTS AND CONCLUSION:Significant differences in total displacement were detected under different loads (F=49.155, P<0.001). With increased load, the total displacement of the fourth and fifth screws gradual y increased under five kinds of conditions. These indicated that the two screws on the two ends of the fracture line endured more stresses (stress concentration), and easily broke. It would be better to choose the screw with the screw diameter of 1-2.5 mm bigger than the present one in order to increase its stability to avoid the breakage of screws.