Objective To setup a platform for genetic diagnosis of Cryopyrin associated periodic syndrome (CAPS) and to use it for clinical diagnosis.Methods The peripheral blood cells of the patient and the controls were collected for DNA extraction.Nine exons of CAPS associated gene NLRP3 were amplified using polymerase chain reaction (PCR) and subjected to sequencing.Blast was used to compare the sequencing results with the reference gene and to locate mutation.The clinical information of the patient was collected and the relevant literature was reviewed.Results We set up a platform for exon sequencing of NLRP3 gene.Using this platform,we identified a nonsynonymous mutation in a female patient (D303N,aspartic acid at locus 303 mutated to asparagine).Considering the clinical manifestations of the patient,chronic infantile neurologic cutaneous and articular syndrome (CINCA) was diagnosed.Conclusion The set up of the platform for NLRP3 genetic analysis will facilitate the clinical awareness and research on CAPS.

OBJECTIVE To promote the management of nosocomial infections continuous improvement in the clinical and medical technology department.METHODS According to the regulation of nosocomial infections management,a handbook of nosocomial infections management for clinical and medical technology department was designed,and the monitors of nosocomial infection could perform real time inspection and record according require of the handbook.The department of nosocomial infections management examined the monitoring work of clinical and medical technology department every month and summarized every year,and the results were internalized to the valuation of medical quality management.RESULTS After 3 years of the usage of the handbook,the capability of the monitor groups of nosocomial infection and the quality of the all monitoring items were significantly improved;the qualified rates were all above 96.30%.CONCLUSIONS The handbook of nosocomial infections management is useful to improve the quality of nosocomial infections management in the clinical and medical technology department.

AIM: To evaluate the effects and safety of intravitreal injection of triamcinolone acetonide ( TA ) or conbercept combined with macular laser grid photocoagulation in the treatment of macular edema secondary to retinal vein occlusion( RVO) . ·METHODS: Fifty cases ( 50 eyes ) with macular edema secondary to retinal vein occlusion were selected and assigned to 2 groups: intravitreal injection of TA or conbercept, and laser photocoagulation after 7d. Best corrected visual acuity ( BCVA ) , fundus examination, optical coherence tomography ( OCT ) and intraocular pressure ( IOP ) were examined before intravitreous injection and 14d, 1 and 3mo after laser, fundus fluorescein angiography(FFA) were examined 3mo after treatment. The postoperative results at each time point were compared with preoperative values. · RESULTS: Two kinds of treatment compared with preoperative, the BCVA all increased in various degrees. At 14d after intravitreous injection, 1 and 3mo after laser, the ratio of vision improved in TA group was 76%, 80%, 68%, conbercept group was 88%, 92%, 88%, BCVA of two groups in each period all had varying degrees of increase than preoperative. The best BCVA acquired at 1mo after treatment. The macular thickness after treatment was significantly lower than preoperative in two groups. At preoperative, 14d, 1 and 3mo after treatment, the macular thickness in TA group was 557. 5 ± 150. 9,301. 7±120. 1, 262. 7 ± 131. 2, 338. 1 ± 146. 5μm; the macular thickness in conbercept group was 569. 4 ± 135. 9, 282. 3 ± 133. 5, 259. 5 ± 116. 4, 307. 8 ± 122. 6μm. The macular thickness of the two groups were significantly different between preoperative and postoperative. · CONCLUSION: The combination of intravitreous injection of TA or conbercept with macular laser grid photocoagulation can be an effective method in the treatment of macular edema secondary to RVO, conbercept treatment is more effective and security.

Dystonia is a common movement disorder characterized by abnormal gestures and involuntary movement as a result of incoordinate contraction of agonistic and antagonistic muscles.The underlying pathogenesis is very complicated and there are various clinical manifestations.The recent findings in genetics and clinical features of primary dystonia,dystonia-plus syndrome and heredodegenerative dystonia are introduced in this paper.

Corneal endothelial cell(CEC)is the most critical part for the cornea, of which activity can influence the postoperative vision.It is very important for the clinical cornea preservation considering the function and its self-purification of donor cornea.There are a variety of classical methods, which can significantly prolong the saving time of donor cornea with its good quality of CEC.We reviewed the published papers about present preservation methods of cornea, which can give us many suggestions for the clinical cornea preservation.

Objective To investigate the risk factors of severe intrahepatic cholestasis during early period after liver transplantation.Methods The clinical data of 225 patients who received orthotopic liver transplantation at the Nanfang Hospital of Southern Medical University from August 2004 to February 2011 were retrospectively analyzed.All patients were divided into positive group (60 patients with intrahepatic cholestasis) and negative group (165 patients without intrahepatic cholestasis).Preoperative,intraoperative and postoperative factors of the 2 groups were compared via t test,chi-square test,Wilcoxon test or Logistic regression analysis.Results The proportion of patients with hepatic cirrhosis,hepatic encephalopathy integral,ascites integral,international normalized ratio,and the levels of prothrombin time (PT),total bilirubin (TBil),aspartate aminotransferase of the positive group before operation were significantly higher than those in the negative group (x2 =6.09,Z =2.22,2.60,2.46,2.84,4.81,3.42,P ＜ 0.05),while the levels of albumin,Na +,K +,hemoglobin,platelet (PLT) of the positive group in the operation were significantly higher than those in the negative group (t =2.10,4.97,Z =2.49,t =3.51,Z =3.66,P ＜ 0.05).The ratio of compatible blood type of the donors and recipients,ratio of fatty liver graft,cold ischemia time,relative warm ischemia time,intraoperative blood loss,intraoperative transfusion of red blood cells,PLT,and cryoprecipitate of the positive group after the operation were significantly higher than those in the negative group (x2 =4.29,13.11,Z =2.45,2.61,3.75,3.20,2.89,3.95,P ＜0.05).The incidences of acute rejection,hepatic artery embolism,pulmonary infection,bacteraemia,fungal infection and cytomegalovirus (CMV) infection were significantly higher than those in the negative group (x2 =9.87,4.91,8.21,6.29,3.92,9.26,P ＜0.05).The results of multivariate analysis revealed that preoperative level of TBil ＞ 51.3 μmol/L,fatty of the liver graft,intraoperative transfusion of cryoprecipitate,postoperative acute rejection,hepatic artery embolism,postoperative pulmonary infection,bacteraemia,CMV infection were independent risk factors of severe inrahepatic cholestasis (OR =15.82,7.99,2.88,3.03,53.20,3.34,4.11,3.22,P ＜ 0.05).The incidence of severe intrahepatic cholestasis was significantly lower in patients with higher level of PLT and longer PT (OR =0.33,0.25,P ＜ 0.05).The mortality rates of the positive group and negative group at 6 months after the operation were 41.7％ (25/60) and 19.4％ (32/165),and the mortality rate of the positive group was significantly higher (x2 =11.54,P ＜ 0.05).Conclusion Correction of poor clinical status before liver transplantation,reinforcement of infection control and anti-rejection may reduce the incidences of complications and decrease the associated early mortality.

Humans ; Male ; Scrotum/injuries* ; Testis/injuries*

OBJECTIVESince glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common hereditary hemolytic erythrocyte enzyme deficiency, most cases have single nucleotide mutations in the coding region, and current test methods for gene mutation have some missed detections, this study aimed to investigate the feasibility of RT-PCR sequencing in the detection of gene mutation in G6PD deficiency.

METHODSAccording to the G6PD/6GPD ratio, 195 children with anemia of unknown cause or who underwent physical examination between August 2013 and July 2014 were classified into G6PD-deficiency group with 130 children (G6PD/6GPD ratio <1.00) and control group with 65 children (G6PD/6GPD ratio≥1.00). The primer design and PCR amplification conditions were optimized, and RT-PCR sequencing was used to analyze the complete coding sequence and verify the genomic DNA sequence in the two groups.

RESULTSIn the G6PD-deficiency group, the detection rate of gene mutation was 100% and 13 missense mutations were detected, including one new mutation. In the control group, no missense mutation was detected in 28 boys; 13 heterozygous missense mutations, 1 homozygous same-sense mutation (C1191T) which had not been reported in China and abroad, and 14 single nucleotide polymorphisms of C1311T were detected in 37 girls. The control group showed a high rate of missed detection of G6PD deficiency (carriers) in the specimens from girls (35%, 13/37).

CONCLUSIONSRT-PCR sequencing has a high detection rate of G6PD gene mutation and a certain value in clinical diagnosis of G6PD deficiency.

Adolescent ; Child ; Child, Preschool ; Female ; Glucosephosphate Dehydrogenase ; genetics ; Glucosephosphate Dehydrogenase Deficiency ; diagnosis ; genetics ; Humans ; Infant ; Male ; Mutation ; Reverse Transcriptase Polymerase Chain Reaction ; methods ; Sequence Analysis, DNA

Esophageal Neoplasms ; complications ; genetics ; Humans ; Infant ; Leiomyomatosis ; complications ; genetics ; Male ; Nephritis, Hereditary ; complications ; genetics

OBJECTIVETo observe the clinical effect of Qingzhen Decoction (QZD) on measles.

METHODSAdopting the randomizing digital table, 62 patients with measles were assigned to two groups, 32 in the treated group and 30 in the control group. All patients were treated with routine therapy, but QZD was given to the treated group additionally for 5 days. Changes of clinical symptoms, blood routine and liver function before and after treatment were observed, and the medical cost was calculated.

RESULTSAfter the 5-day treatment, the normalization rate of irritative cough in the treated and the control group was 88.9% (24/27) and 56.0% (14/25) respectively, that of conjunctival congestion was 90.0% (27/30) and 65.5% (19/29) respectively, showing significant differences between groups (P<0.05). The liver function normalization rate in the two groups was 28.6% (2/7) and 25.0% (2/8), and the average medical cost yen 740.7 and yen 749.3, respectively. The total effective rate in the two groups was 96.9% and 93.3% respectively, showing insignificant difference between groups (P>0.05).

CONCLUSIONQZD could actively improve the respiratory symptoms like irritative cough and the inflammatory symptoms of eye like conjunctival congestion in patients with measles.

Adolescent ; Adult ; Antiviral Agents ; adverse effects ; therapeutic use ; Child ; Drugs, Chinese Herbal ; adverse effects ; therapeutic use ; Female ; Hospitalization ; Humans ; Length of Stay ; Liver Function Tests ; Male ; Measles ; drug therapy ; physiopathology ; Middle Aged ; Treatment Outcome