【Objective】 To investigate the possible molecular pathogenesis of a child with hemophilia A accompanied by coagulation factor Ⅺ reduction by testing coagulation-related indicators and genotyping in the child and his family. 【Methods】 Peripheral blood from the patient and his parents for detection of coagulation factors Ⅷ, Ⅸ, Ⅺ, Ⅻ, VWF∶Ag, lupus anticoagulants and F VIII, F XI inhibitors were collected. All exons and flanking sequences of the genes encoding FⅧ and FⅪ were sequenced and bioinformatically analyzed. 【Results】 The child had low FⅧ and FⅪ activity and no parental abnormalities were observed. The sequencing results showed that there was a c. 1834(exon12) C>T heterozygous mutation in the FⅧ gene and a c. 1817 (exon15) G>A heterozygous mutation in the FⅪ gene, which was de novo. Bioinformatics analysis shows that the FⅪ mutation changes the original protein structure and increases the number of carboxyl groups. 【Conclusion】 For patients with prolonged APTT, in addition to excluding factors that interfere with APTT testing, all coagulation factors related to APTT should be tested to clarify the diagnosis.

OBJECTIVE: To study the polymorphism of human platelet antigen (HPA) system 10 among ethnic Han Chinese from Shandong, China so as to supplement the data of platelet donor bank in the region. METHODS: Peripheral blood samples of platelet donors from the region were genotyped for HPA-10 alleles by PCR-sequence specific primer (PCR-SSP) and direct sequencing. RESULTS: Among 1401 donors, a rare heterozygote carrier of HPA-10w (a+b+) was identified, which gave an allelic frequency of approximately 0.035%. CONCLUSION The detection of rare HPA-10bw antigen allele among ethnic Han Chinese from Shandong is useful for the diagnosis and prevention of neonatal alloimmune thrombocytopenia and post-transfusion purpura in the region.
Alleles ; Antigens, Human Platelet/genetics* ; Asians/genetics* ; Gene Frequency ; Genotype ; Humans ; Infant, Newborn ; Polymorphism, Genetic

OBJECTIVE: To characterize a novel HLA allele, A*24:191, its DNA sequence, MHC modeling structure, and the possible influence of the amino-acid residue variations on the molecule. METHODS: The HLA sequence was determined by Luminex PCR-SSO and PCR-SBT. Its MHC molecular structure and the possible effects of the amino-acid residue variations were modeled and analyzed with Phyre2, RCSB PDB and HistoCheck software. RESULTS: The PCR-SBT revealed the novel A*24:191 differs from A*24:02 in exon 2 at position 256, 265, 270 with G>C, G>C, A>T. The MHC molecular structure prediction showed that, compared with A*24:02, the 62nd residue of A*24:191 changed from the acidic E to a neutral Q, both with the side chain extending outside the α helix pointing forward the groove, (Risler's score, R=2), the 65th changed from the smaller neutral G extending inside the helix to a basic R with a long-chain extending upward outside the helix (R=52), and the 66th changed from the basic K to a neutral N both with a long side chain extending inside the groove (R=31). The above residues are located on the α helix of the α 1 domain which constituting the side wall of the peptide-binding groove. The DSS Score=3.85. From the surface image of the molecule, it can be clearly seen that the variations of the properties, sizes and configurations of the residues caused significant changes in the shape of the surface structure of the α helix. CONCLUSION It suggested that the residue variations are likely to change the peptide binding properties as well as the TCR and antibody binding characteristics of the molecule.
Alleles ; Amino Acid Sequence ; HLA-A Antigens ; Humans ; Peptides ; Protein Binding ; Protein Conformation

The new ultrasound device, automated breast ultrasound (ABUS), has the advantages of repeatable reading of standardized whole breast images, and can separate ultrasound scanning and diagnosis. ABUS is more suitable for breast ultrasound training. This study compared the breast ultrasound imaging training model with ABUS diagnosis practice as the core and the traditional breast ultrasound imaging training model with handhold ultrasound operation and diagnosis as the core, and found that the new training model with ABUS diagnosis practice as the core had a short training period. The diagnostic level of doctors have improved rapidly, and the new training model could efficiently train more technically qualified ultrasound doctors for breast disease.

Objective: To evaluate the results of catheter ablation of ventricular tachycardia (VT) via direct ventricle puncture access in patients without traditional approach. Methods: Two idiopathic left fasicular VT patients with mechanical aortic and mitrial valve repalcement and 1 patient with right ventricular originated VT post mechanical tricuspid valve repalcement from March 2010 to July 2012 in Fuwai hospital were enrolled in this study. For left fasicular VT patients, catheter ablation was performed using transapical left ventricular access via minithoracotomy. For the patient with right ventricular originated VT, catheter ablation was performed via percutaneous right ventricle puncture at xiphoid. Abaltion was guided under EnSite NavX mapping system. The feasibility of VT ablation via direct ventricle puncture access and long-term VT recurrence were investigated. Results: Catheter ablation was successful in all patients, and all clinical VTs were eliminated. The procedure time was 53, 62 and 74 minutes respectively with radiation time 11, 16 and 20 minutes. The ablation time was 130, 170 and 240 seconds individually. No procedure related complication occurred. After a follow-up time of 76, 55 and 82 months respectively, no VT recurrence was found in patients with left fasicular VT. New-onset VT with different morphology with previous VT was recorded in the patient with right ventricular originated VT, subcutaneous implantable defibrillator was implanted finally in this patient. Conclusions For patients with endocardial origined ventricular arrhythmias which could not be ablated via traditional approaches, direct ventricle puncture access with hybrid techniques provides a new approach foreliminating VTs in these patients.

Objective To analyze the laboratory diagnosis results and epidemiological characteristics of imported malaria cases in Chongqing Municipality in 2015. Methods According to the Standard Operating Procedures of Malaria Diagnosis Ref-erence Laboratory Manual,all the blood samples collected from the imported malaria patients were detected by microscopy, RDT and nest PCR. Meanwhile,the epidemiological data of the malaria cases were collected from the Parasitic Diseases Informa-tion Management System and analyzed. Results Totally 31 cases of imported malaria were reported in Chonqing Municipality in 2015,among which,there were 2 vivax malaria cases(6.45%),23 falciparum malaria cases(74.19%),5 ovale malaria cas-es(16.13%),1 malariae malaria case(3.22%). For the 5 ovale cases,three of them were confirmed as Plasmodium ovale wal-likeri infection. Among all the cases,30 cases(96.77%)were from African countries,1(3.33%)was from Southeast Asia. Thir-ty patients were male,and 1 was female. All the patients were aged from 23-61 years. There was no obvious seasonality in the case distribution. Both the medians of duration from malaria attack to first visiting a doctor and from first visiting a doctor to diag-nosis were 2 days. The medical care units that the patients first visited were mainly county-level units,while those that made the diagnosis were mainly provincial level institutes. Conclusions All the malaria cases in Chongqing in 2015 are imported,no lo-cal cases have been found,which suggests that this municipality still maintain the malaria elimination state. However,the moni-toring and management of imported malaria cases as well as the training on malaria control for related medical staff still need to be strengthened.

Objective To compare patients'satisfaction and comfort associated with automated breast volume scanner(ABVS),handheld ultrasound(HHUS)and mammography(MMG).Methods Five hundred and twenty-eight women who performed ABVS examination and previously had undergone MMG and HHUS were enrolled.BMI,bra size,with or without lesion,lesion size,pain score of MMG,ABVS and HHUS were documented and analyzed.Results The pain score of MMG was significantly higher than that of ABVS[4.0(2.0,6.0)vs 2.0(1.0,4.0)](P <0.05).92.4% of the cases were preferred for the ABVS examination,which was higher than that for the MMG(45.5%),and was similar to HHUS(94.7%).Bra size,BMI,with or without lesion and lesion size could affect the pain degree of ABVS.Conclusions Routine use of ABVS will be well tolerated by patients than MMG.

Objective To study the skills and effects of endoscopic retrograde appendicitis therapy (ERAT) in treating patients with uncomplicated acute appendicitis .Methods We enrolled 21 patients with suspected acute appendicitis who then underwent emergent ERAT between October 2014 and January 2015 .The data of treatment were collected and the operative skills and effects of ERAT were analyzed . Results ERAT was completed successfully in all the patients ,resulting in a success rate of 100% .Mean operation time of ERAT was (49 .7 ± 18 .2) min and mean hospital stay was (3 .3 ± 1 .6)d .Cannulation of the appendix lumen was the most critical step of ERAT ,and cannulation time [(5 .7 ± 4 .9)min , P< 0 .05] was shortened significantly by the use of LoopTip guidewire . Fourteen patients with intraluminal appendicoliths (7 of massive appendicoliths , 4 of sand‐like appendicoliths and 3 of sand‐like appendicoliths with luminal stenosis ) underwent endoscopic lithotomy successfully with balloon or basket ,with the success rate of 100% .One patient who presented perforation after appendicolith removal by basket was cured with conservative treatment .Appendix stent was inserted ,then pulled out after 1 week in 9 patients ,while no complaint or complication of the stent was observed .Operation time of ERAT shortened with the increase of case number .Conclusion ERAT is an effective and safe therapy for treating patients with uncomplicated acute appendicitis .The high success rate and safety of ERAT will be achieved by selecting suitable instruments for cannulation and appendicolith removal ,deciding suitable indications for stenting ,and accumulating of operative cases .

Background One of the major challenges in arrhythmogenic right ventricular cardiomyopathy (ARVC) ablation is ventricular tachy-cardia (VT) non-inducibility. The study aimed to assess whether fast rate (≥ 250 beats/min) right ventricular burst stimulation was useful for VT induction in patients with ARVC.Methods Ninety-one consecutive ARVC patients with clinical sustained VT that underwent electro-physiological study were enrolled. The stimulation protocol was implemented at both right ventricular apex and outflow tract as follows: Step A, up to double extra-stimuli; Step B, incremental stimulation with low rate (< 250 beats/min); Step C, burst stimulation with fast rate (≥ 250 beats/min); Step D, repeated all steps above with intravenous infusion of isoproterenol.Results A total of 76 patients had inducible VT (83.5%), among which 49 were induced by Step C, 15 were induced by Step B, 8 and 4 by Step A and D, respectively. Clinical VTs were induced in 60 patients (65.9%). Only two spontaneously ceased ventricular fibrillations were induced by Step C. Multivariate analysis showed that a narrower baseline QRS duration under sinus rhythm was independently associated with VT non-inducibility (OR: 1.1; 95% CI: 1.0–1.1;P = 0.019).ConclusionFast rate (≥ 250 beats/min) right ventricular burst stimulation provides a useful supplemental method for VT induction in ARVC patients.

Objective To study the effect and safety of endoscopic retrograde appendicitis therapy (ERAT) in treating patients with uncomplicated acute appendicitis. Methods Patients with uncomplicated acute appendicitis were enrolled and divided into ERAT group and LA group received laparoscopic appendectomy. Then compare treat-ment condition, complications and follow-up of the two groups. Results ERAT were completed successfully in all the patients in ERAT group, while one patient underwent a reversion to open appendectomy for technical difficulties in LA group. Mean operative time was (49.7 ± 18.2) min for ERAT group and (68.9 ± 25.9) min for LA group (P <0.05). Fever relief time (1.3 ± 0.5) d, WBC normalization time (2.0 ± 0.9) d, mean bed time (0.1 ± 0.2) d and mean hospital stay (3.3 ± 1.6) d for ERAT group were significantly lower than LA group (P <0.05). 14 patients with intra-luminal appendicoliths (7 of massive appendicoliths, 4 of broken appendicoliths and 3 of broken appendicoliths with luminal stenosis) underwent endoscopic lithotomy successfully in ERAT group, resulting in a success rate of 100.00%. One patient presented perforation after ERAT was cured with conservative treatment. During the follow-up of at least 1/2 year, the rate of recurrence was 10.00% in ERAT group. 1 patient (5.00%) underwent LA at the 5th month after ERAT during the follow-up. Conclusion ERAT is an effective and safe therapy in treating patients with uncomplicated acute appendicitis with advantages of minimal invasiveness and quick recovery. Uncomplicated acute appendicitis with appendicoliths and/or luminal stenosis are the most suitable indications for ERAT.