OBJECTIVE: To explore the clinical features and genetic etiology for a neonate with Smith-Magenis syndrome (SMS). METHODS: Copy number variation sequencing (CNV-seq) was applied to the neonate and his parents, and the genotype-phenotype correlation was analyzed. RESULTS: On the second day after birth, the neonate had presented with pathological jaundice and immunodeficiency. Cranial MRI revealed ventricular enlargement and enlargement of cisterna magna. At 3 months, the infant has presented with square face, prominent forehead, deep-set eyes, hypertelorism, palpebral fissure upward and button noses. Genetic testing showed that he had carried a 2.9 Mb deletion in 17p11.2 region, seq[GRCh37] del(17)(p11.2)(chr17:16 836 379-19 880 992). The same deletion was not found in either parent. CONCLUSION SMS is mostly diagnosed in child and adulthood, but rarely in neonates. For neonates with SMS, the neurological and behavioral abnormalities have not been shown, but pathological jaundice, CNS abnormalities and immune deficiency may be the characteristics, which require attention of neonatal physicians.
Adult ; Chromosome Deletion ; Chromosomes, Human, Pair 17 ; DNA Copy Number Variations ; Genetic Testing ; Humans ; Infant, Newborn ; Intellectual Disability/genetics* ; Male ; Phenotype ; Smith-Magenis Syndrome/genetics*

TSCI have dyskinesia and sensory disturbance that can cause various life-threaten complications. The patients with traumatic spinal cord injury (TSCI), seriously affecting the quality of life of patients. Based on the epidemiology of TSCI and domestic and foreign literatures as well as expert investigations, this expert consensus reviews the definition, injury classification, rehabilitation assessment, rehabilitation strategies and rehabilitation measures of TSCI so as to provide early standardized rehabilitation treatment methods for TSCI.

Objective To observe the changes of renal tubular injury and the extent of interstitial fibrosis in the C57BL/6 mouse models of chronic kidney disease(CKD),and provide experimental animal evidence for study of the pro-gression of acute kidney injury(AKI)to chronic kidney disease as well as its mechanisms. Methods Twenty-four 8-week-old male C57BL/6 mice were randomly and equally divided into control group, low-dose, medium-dose, and high-dose cisplatin groups,6 mice in each group. Mice in the cisplatin groups were administrated with 5,7 or 10 mg/kg cispla-tin by intraperitoneal injection once a week for 4 weeks. Plasma creatinine and 24-hour urinary protein were detected to as-sess the renal function. The mice were sacrificed, and plasma and kidney samples were collected for subsequent tests. Pathological changes were observed using periodic acid-Schiff(PAS)staining. To evaluate renal tubules injury, the ex-pression of kidney injury molecule 1(KIM-1)was examined by immunohistochemistry and the level of urinary N-Acetyl-β-D-glucosaminidase was detected with a commercial kit. The infiltration of CD3-positive T cells and F4/80-positive macro-phages was observed by immunohistochemistry(IHC)and immunofluorescence. The expression of collagen I and α-smooth muscle actin(α-SMA)were tested by immunohistochemistry to assess the renal fibrosis, while total kidney collagen was detected by Picrosirius red staining. Results In contrast to the normal control group,the kidney injury became more seri-ous in the cisplatin-treated mice as cisplatin concentration increased. Particularly,significant kidney damage was observed in the high-dose cisplatin group. Compared with the control group,the plasma creatinine and 24-hour urinary protein were significantly increased in the high-dose cisplatin group(P<0.05 and P<0.001)indicating impaired renal function. Mor-phologically,numerous clear vacuoles and necrosis were present in renal tubule epithelial cells in the high-dose cisplatin group. The expression of KIM-1 was markedly up-regulated and the level of urinary NAG was elevated. Infiltration of CD3-positive T cells and F4/80-positive macrophages was enhanced in the mice of high-dose cisplatin group. Data from immuno-histochemistry and picrosirius red staining showed that mice of the high-dose cisplatin group developed renal fibrosis evi-denced by markedly up-regulated expression of collagen I and α-SMA. Conclusions Repeated administration of 10 mg /kg cisplatin for 4 weeks can induce chronic renal insufficiency in mice,which may serve as a novel model for the research on underlying mechanisms of progression from acute kidney injury to chronic kidney disease.

Gold nanochannels were prepared using Al2 O3 nanotubules membrane as the carrier and modified with chitosan by a classical N-(3-dimethylaminopropyl)-N-ethyl carbodiimide ( EDC)/N-hydroxysuccinimide ( NHS ) coupling reaction. The nanochannels were characterized by field emission scanning electron microscopy ( FESEM) , cyclic voltammetry and AC impedance method. The Au nanochannels modified with chitosan showed a chiral environment and can be used to separate histidine enantiomer. The effects of pore size and solution pH on the separation efficiency of histidine were investigated. To increase the detection sensitivity of D-, L-histidine, Ag nanoparticles were used to enhance the surface enhanced Raman scattering ( SERS) activity. The results showed that the chitosan-modified gold nanochannels can be used to separate chiral histidine based on this unique selective nanochannel membrane. L-Histidine and D-histidine were respectively detected by SERS at wavelengths of 1000 and 1590 cm-1 . The results showed that L-histidine and D-histidine were separated well in the mixture containing 200 μL of histidine, 100 μL of colloidal Ag and 100 μL of 80 mmol/L NaCl ( pH=7 . 59 ) with a separation efficiency of 4 . 91 .

Objective To investigate the clinical efficacy of laparoscopic Soave's surgery for the treatment of congenital Hirschsprung's disease in infants (age ＜ 2 months).Methods The clinical data of 368 infants with congenital Hirschsprung's disease who received laparoscopic Soave's surgery at the Children's Hospital of Xuzhou City from June 2005 to June 2012 were retrospectively analyzed.Three Trocars with diameter of 0.5 cm were used.The colic ligament was freed and the mesentery was ligated laparoscopically,then the rectal mucosa was stripped for 5-7 cm in length,and was pulled out through the rectal muscle sheath.Patients were followed up via out-patient examination at postoperative month 1,3,6,12 to learn the frequency of defecation,constipation and anal stenosis.The follow-up was ended in June of 2013.Results Two patients were converted to open surgery,and the remaining 366 patients received laparoscopic surgery successfully,with no incidence of wound infection.The operation time,volume of blood loss and duration of hospital stay were (100 ±20)minutes,(5.4 ± 1.5) mL and (7.3 ± 1.5) days,respectively.The average time for antibiotics usage was (3.5 ± 1.6) days and the time for infusion was (3.8 ± 1.4) days.All the infants were followed up,and the mean time for postoperative follow-up was 4.5 years (range,1.0-8.0 years).Eleven patients were complicated with Hirschsprung's disease associated enteritis,7 patients with constipation,5 with anal stenosis,4 with fecal pollution.The condition of the infants was improved after conservative treatment.Conclusion Laparoscopic Soave's surgery is suitable for the treatment of congenital Hirschsprung's diseases in infants aged under 2 months,it has the advantages of small trauma,quick recovery,better cosmetic effects and few complications.

OBJECTIVETo explore the value of rectal mucosa stripping and pull-through from rectal muscle sheath of blind pouch in the treatment of congenital high anal atresia in the newborn.

METHODSClinical data of 232 newborns diagnosed as congenital high anal atresia undergoing operation from January 2001 to December 2010 were retrospectively analyzed. Among these patients, 168 underwent rectal mucosa stripping and pull-through from rectal muscle sheath of blind pouch through the previous of sagittal approach (intrathecal pull-through group), and 64 cases underwent the Pena procedure (Pena group). Patients were followed up for two years. Kelly score was used to estimate postoperative anorectal function. Defecography was used to examine the morphology of anorectum. Rectal pressure was measured as well.

RESULTSTwo years after operation, Kelly score revealed that 126 (75.0%) cases in the intrathecal pull-through group and 54 cases (84.4%) in the Pena group had good control defecation (P>0.05), while constipation rate was significantly lower in intrathecal pull-through group [8.3% (14/168) vs. 21.9% (14/64), P<0.05]. Postoperative barium defecography showed that defecation rectum maximum diameter was (2.2±0.3) cm in intrathecal pull-through group and (2.3±0.8) cm in the Pena group (P>0.05). Anorectal manometry showed rectal maximum capacity threshold value was (91.4±15.2) ml in the intrathecal pull-through group and (95.1±18.6) ml in the Pena group (P>0.05). There were no significant differences in defecography, anal bowel function and anorectal manometry between the two groups postoperatively (all P>0.05).

CONCLUSIONSRectal mucosa stripping and pull-through from rectal muscle sheath of blind pouch through the former sagittal can be completed with one-stage operation in newborn for the treatment of congenital high anal atresia, the efficacy of which is similar to the classic Pena operation. This procedure can avoid other operations, ameliorate the pains of newborns, decrease the burden of family, and has lower constipation rate, therefore it is a valid surgical option.

Anus, Imperforate ; surgery ; Female ; Humans ; Infant, Newborn ; Male ; Mucous Membrane ; surgery ; Rectum ; surgery ; Retrospective Studies

Objective To investigate the method and effect of organization and management on self -protection among nursing staff of Chinese Military Medical Aid Team to Sierra Leone , so as to provide a reference for self-protection management among the nursing staff who will be dispatched to Africa for fighting against Ebola virus .Methods The organization and management of self-protection included enhancing the awareness of self-protection , standardizing protection procedures , perfecting rules and regulations , and strengthening physical and mental health care .Results A total of 274 patients were admitted to the holding center , of which 145 were confirmed as Ebola virus disease , and there was no Ebola virus infected nursing staff in our team .The organization and management of self-protection among nursing staff served as an important guarantee for prevailing over Ebola virus .Conclusions It is crucial to provide a scientific and effective organization and management of self-protection to prevent Ebola virus infection for nursing staffs .

Objective To investigate the association of HLA-A and -B alleles with syphilis in Shandong Han population. Methods The allele frequencies of HLA-A and -B were detected in 205 patients with syphilis and 5844 normal human controls by PCR-sequence specific oligonucleotide probe (PCR-SSOP)method. Results The patients with syphilis showed a higher frequency of HLA-A*02, B*15, B*40 alleles(all P＜0.01, Pc＜0.05) and a lower frequency of HLA-A*26 allele (P= 0.003, Pc = 0.039) than the normal human controls did. There was an increased frequency of HLA-B*15 and B*40 alleles in patients with symptomatic syphilis (both P＜0.01, Pc＜0.05), as well as an elevated frequency of HLA-A*02, 11, 29, B*15 and 40 alleles (all P＜0.01, Pc＜0.05) and a decreased frequency of HLA-A*30 and 33 in patients with asymptomatic syphilis(P=0.002, 0.026, Pc=0.001, 0.013 respectively), compared with the normal human controls. The frequency of HLA-A*30 allele was significantly higher in patients with symptomatic syphilis than in those with asymptomatic syphilis (P = 0.001, Pc = 0.013). Conclusions There seems to be an association between HLA-A*02, B* 15 and B*40 alleles and syphilis, between HLA-A*30 allele and symptomic syphilis, and between HLA-A*02, 11 and 29 alleles and asymptom1atic syphilis, in Shandong Han population.

Objective To summarize the experience of totally endoscopic thyroidectomy (TET) in treating differentiated thyroid carcinoma and to evaluate its feasibility, safety and the therapeutic result.Methods The clinical data of 25 cases of thyroid carcinoma treated with TET via the areola of breast or by axillary approach from November 2004 to July 2009 in our hospital were retrospectively analyzed.Result TET procedures were successfully performed in all 25 cases. Postoperative pathology confirmed that 23 cases were of papillary cancer and the other 2 were follicle cancer. Lobectomy and subtotal thyroidectomy were performed in 11and 14 cases respectively. In 7 cases additional lymph node dissection was performed.All the cases were followed-up, ranging from 5 to 58 months, with a median of 28 months. No recurrence was found during this period. There was no morbidity nor major complications and patients were all satisfied with the cosmetic effect. Conclusion Totally endoscopic thyroidectomy (TET) is curative, safe and cosmetic therapy for differentiated thyroid carcinoma.