BACKGROUND: Research shows that genetic factors are an important component of the congenital dislocation of the hip(CDH) . However, no susceptibility genes have been identified by now. The homebox-containing (HOX) genes that regulate the embryogenesis and vertebrate limb development may play a role in the pathogenesis of CDH.OBJECTIVE: To investigate whether a correlation exists between CDH and the Hox genes.DESIGN: Controlled study associated with family.SETTING: Department of aevelopmental pediatrics, genetic laboratory, department of pediatric orthopaedics in an affiliated hospital of a university.PARTICIPANTS: All the 101 CDH patients and their parents (altogether 303 members) were the in-patients from the Department of Pediatric Orthopaedics of the Second Clinical College of China Medical University; from December 1999 to January 2001. All the patients presented typical clinical manifestations and were diagnosed by X rays and operations for confirmation.METHODS: Four microsatellite markers D7S1808, D17S1820, D12S1686 and Hox4EP were selected in the chromosome regions of7p14 - 15, 17q21, 12q13and 2q31 where Hox A, Hox B, Hox C and Hox D genes which regulate the embryonic limb development reside respectively. Genotypes of 303 members in 101CDH families were analyzed by the techniques of polymerase chain reaction (PCR) and denaturing polyacrylamide gel electrophoresis. Then transmission disequilibrium test(TDT) was performed to analyze the data of genotypes.MAIN OUTCOME MEASURES: The genotypes of four microsatellite markers D7S1808, D17S1820, D12S1686 and Hox4EP in every CDH family including one child and parents; transmission disequilibrium test between transmission alleles and non-transmission alleles.RESULTS: Transmission disequilibrium was found between CDH and allele 7 of D7S1808(X2 = 6. 045, P = 0. 014) among a total of 10 alleles detected, between CDH and allele 4 of D17S1820(X2 =6. 025, P =0. 014) among a total of 12 alleles detected, between CDH and allele 4 of Hox4Ep (X2 = 6. 461, P =0.011) among a total of 16 alleles detected. But no transmission disequilibrium was found between CDH and D12S1686(X2 = 6. 171,P =0. 965) with 16 alleles detected.CONCLUSION: CDH may be related to Hox A, Hox B, Hox D genes, and Hox A, Hox B, Hox D genes may be susceptibility genes in CDH.

Objective To study the changes of subgroups of peripheral blood T lymphocytes in the patients infected with the 2009 pandemic influenza A ( H1N1 ) virus of different severity type. Method A total of 66 patients infected by H1N1 evidenced by RT-PCR admitted from September 2009 to January 2010 were divided into three groups: mild type ( B group, n = 47 ), cured patients of severe and critical severe type ( C group, n = 14) and died patients ( D group, n =5), according to the severity and prognosis. A total of 20 healthy volunteers served as control group( A group). Peripheral blood lymphocyte count, CD3+,CD4+ and CD8+ T lymphocyte count were detected by flow cytometry at the different time points. Fever duration and H1N1 virus negative time were compared. Statistical analysis were performed by using SAS version 9.13 software and the data were processed with ANOVA and SNK test. Results Lymphocyte count, CD3+,CD4+ and CD8+ T lymphocyte count declined in the early period in all the groups, and there were significant differences compared with A group (P＜0. 05), while rised with the clinical progression in group B and C,and those of C group were lower than B group ( P ＜ 0.05 ), but those of D group were always low. Fever duration and H1N1 virus negative time were (4.4 ± 1.6) days vs. (4.4 ± 1. 4) days, ( 12.9 ± 3. 1 ) days vs.( 10.2 ± 2.6) days and ( 15.2 ± 7.3 ) days vs. ( 13.3 ± 2.9 ) days respectively, and there were significant differences among the three groups ( P ＜ 0.05 ). Conclusions The cellular immune function was seriously damaged when patients were infected with H1N1. Further more, the changes of lymphocyte count, CD3+ , CD4+and CD8+ T lymphocyte count were tightly related with the degree of severity and prognosis. These findings can be used for clinical diagnosis and treatment.

Objective To identify the peptide that have strong ability binding to HCMV-UL149 encoded protein,and to analyze the characteristics of the amino acid sequence of UL149-binding peptides.Methods Expressed UL149 proteins of three genotypes were used to screen the binding peptide in the random peptide display library,then the encoding sequence of binding peptides in the selected clones were sequenced.The amino acid sequences of the binding peptides were analyzed for their homology,and were com pared with those of the known protein in protein banks.Results The homologous amino acid sequence W/A/F/V-D/E-D/E-G-W/F/I/L were found within the binding peptides selected by proteins of all the three UL149 genotypes proteins,and no difference between three groups was found.The alignment with amino acid sequences of the known proteins in protein banks showed that the binding peptides of UL149 putative protein have homologous amino acid sequences with immunoglobulin heavy chain variable region(IgHV),the serine/threonine protein kinases,compliment factor H,zinc finger protein,MHC Ⅰ molecule,eukaryotic translation initiation factor,nuclear factor and so on.Conclusion The UL149 encoding proteins have binding ability to proteins mentioned above,and might interfere with the immunity responds to HCMV infection through multiple mechanisms.

Objective To explore a 3D printing model of fracture restoration which can be used in preoperative planning and design for distal tibiofibular fractures.Methods A retrospective analysis was performed of the 35 patients with distal tibiofibular fracture who had been treated from October 2015 to September 2016 at our department.Bilateral tibiofibular CT scan was performed in all the cases to obtain Dicom data.Using Mimics 15.0 software,cross sections were created at 5 cm,10 cm and 15 cm above the knee joint at the bilateral upper tibiae and marked as PT5,PT10 and PT15.The long and short axles on the left and right sides were measured and compared (LL vs.RL;LS vs.RS).After the STL files for 3D models were generated using Mimics 15.0 software,a real-sized 3D model of the distal tibiofibular fracture and a mirror model of the contralateral tibiofibula were printed.The fracture lines were drawn and preoperative manoeuvre was performed on the mirror 3D printed model.The real operation used the implants preoperatively designed;the actual screw lengths were measured and compared radiographically with those designed in the preoperative manoeuvre.Results All the data were collected of the long and short axles on the 3 cross-sections (PT5,PT10 and PT15) of the left and right sides of the proximal tibia.The samples were paired into 6 groups.The correlation coefficients of paired samples were greater than 0.95,showing an extremely strong correlation.The differences between the left and right sides showed no statistically significance in paired samples of LR-RL and LS-RS groups on PT5,PT10 and PT15 cross-sections (P ＞ 0.05).All the 35 cases received surgical operation.The postoperative X-ray review showed fine agreement between actual surgery and preoperative design in terms of screw length and accuracy.The deviations were in an allowable range,leading to satisfactory internal fixation.Conclusions A mirror 3D model of the healthy side is of clinical value to some extent because it can serve as one for an anatomically reduced fracture which can be used for preoperative manoeuvre and preparation of implants.The contrasts between the long and short axles on the 3 cross-sections may simplify and facilitate comparisons of bilateral similarity,avoid the blindness in direct application of the health side mirror model for preoperative planning.

OBJECTIVE To understand and use reasonably the strategy of prevention and management of overwhelming postsplenectomy infection(OPSI). METHODS According to intervention to patients with postsplenectomy by means of education,vaccination,antibotic prophylaxis after April 1998,clinical and follow-up data were reviewed and analyzed from 337 cases patients with traumatic splenectomy from Jan 1992 to Jan 2004,and correlative factors of four OPSI cases were further analyzed. RESULTS Incidence of OPSI descended obviously after intervention(P

OBJECTIVETo report on prenatal diagnosis and follow up of two patients with paternal uniparental disomy of chromosome 6 (pUPD6).

METHODSFetal cells were subjected to in situ culturing and G-banded chromosomal analysis. DNA samples of the fetuses and their parents were also analyzed with single nucleotide polymorphism microarray (SNP array).

RESULTSBoth fetuses had a normal male karyotype. SNP array analysis showed both have carried pUPD6.

CONCLUSIONpUPD6 can lead to transient neonatal diabetes mellitus type 1. Homozygous status of recessive mutations, disorder of gene imprinting, and its influence on placental function are the main factors to be considered during prenatal diagnosis and genetic counseling for pUPD6.

With the increasing proportion of human papilloma virus(HPV)infection in the pathogenic factors of oro-pharyngeal cancer,a series of changes have occurred in the surgical treatment.While the treatment mode has been im-proved,there are still many problems,including the inconsistency between diagnosis and treatment modes,the lack of popularization of reconstruction technology,the imperfect post-treatment rehabilitation system,and the lack of effective preventive measures.Especially in terms of treatment mode for early oropharyngeal cancer,there is no unified conclu-sion whether it is surgery alone or radiotherapy alone,and whether robotic minimally invasive surgery has better func-tional protection than radiotherapy.For advanced oropharyngeal cancer,there is greater controversy over the treatment mode.It is still unclear whether to adopt a non-surgical treatment mode of synchronous chemoradiotherapy or induction chemotherapy combined with synchronous chemoradiotherapy,or a treatment mode of surgery combined with postopera-tive chemoradiotherapy.In order to standardize the surgical treatment of oropharyngeal cancer in China and clarify the indications for surgical treatment of oropharyngeal cancer,this expert consensus,based on the characteristics and treat-ment status of oropharyngeal cancer in China and combined with the international latest theories and practices,forms consensus opinions in multiple aspects of preoperative evaluation,surgical indication determination,primary tumor re-section,neck lymph node dissection,postoperative defect repair,postoperative complication management prognosis and follow-up of oropharyngeal cancer patients.The key points include:① Before the treatment of oropharyngeal cancer,the expression of P16 protein should be detected to clarify HPV status;② Perform enhanced magnetic resonance imaging of the maxillofacial region before surgery to evaluate the invasion of oropharyngeal cancer and guide precise surgical resec-tion of oropharyngeal cancer.Evaluating mouth opening and airway status is crucial for surgical approach decisions and postoperative risk prediction;③ For oropharyngeal cancer patients who have to undergo major surgery and cannot eat for one to two months,it is recommended to undergo percutaneous endoscopic gastrostomy before surgery to effectively improve their nutritional intake during treatment;④ Early-stage oropharyngeal cancer patients may opt for either sur-gery alone or radiation therapy alone.For intermediate and advanced stages,HPV-related oropharyngeal cancer general-ly prioritizes radiation therapy,with concurrent chemotherapy considered based on tumor staging.Surgical treatment is recommended as the first choice for HPV unrelated oropharyngeal squamous cell carcinoma(including primary and re-current)and recurrent HPV related oropharyngeal squamous cell carcinoma after radiotherapy and chemotherapy;⑤ For primary exogenous T1-2 oropharyngeal cancer,direct surgery through the oral approach or da Vinci robotic sur-gery is preferred.For T3-4 patients with advanced oropharyngeal cancer,it is recommended to use temporary mandibu-lectomy approach and lateral pharyngotomy approach for surgery as appropriate;⑥ For cT1-2N0 oropharyngeal cancer patients with tumor invasion depth＞3 mm and cT3-4N0 HPV unrelated oropharyngeal cancer patients,selective neck dissection of levels ⅠB to Ⅳ is recommended.For cN+HPV unrelated oropharyngeal cancer patients,therapeutic neck dissection in regions Ⅰ-Ⅴ is advised;⑦ If PET-CT scan at 12 or more weeks after completion of radiation shows intense FDG uptake in any node,or imaging suggests continuous enlargement of lymph nodes,the patient should undergo neck dissection;⑧ For patients with suspected extracapsular invasion preoperatively,lymph node dissection should include removal of surrounding muscle and adipose connective tissue;⑨ The reconstruction of oropharyngeal cancer defects should follow the principle of reconstruction steps,with priority given to adjacent flaps,followed by distal pedicled flaps,and finally free flaps.The anterolateral thigh flap with abundant tissue can be used as the preferred flap for large-scale postoperative defects.

Objective: To understand the consistency of ALK Ventana-D5F3 immunohistochemistry (IHC) interpretation in Chinese lung adenocarcinoma among histopathologists from different hospitals, and to recommend solution for the problems found during the interpretation of ALK IHC in real world, with the aim of the precise selection of patients who can benefit from ALK targeted therapy. Methods: This was a multicenter and retrospective study. A total of 109 lung adenocarcinoma cases with ALK Ventana-D5F3 IHC staining were collected from 31 lung cancer centers in RATICAL research group from January to June in 2018. All cases were scanned into digital imaging with Ventana iSCANcoreo Digital Slide Scanning System and scored by 31 histopathologists from different centers according to ALK binary (positive or negative) interpretation based on its manufacturer′s protocol. The cases with high inconsistency rate were further analyzed using FISH/RT-PCR/NGS. Results: There were 49 ALK positive cases and 60 ALK negative cases, confirmed by re-evaluation by the specialist panel. Two cases (No. 2302 and No.2701) scored as positive by local hospitals were rescored as negative, and were confirmed to be negative by RT-PCR/FISH/NGS. The false interpretation rate of these two cases was 58.1% (18/31) and 48.4% (15/31), respectively. Six out of 31 (19.4%) pathologists got 100% accuracy. The minimum consistency between every two pathologists was 75.8%.At least one pathologist gave negative judgement (false negative) or positive judgement (false positive) in the 49 positive or 60 negative cases, accounted for 26.5% (13/49), 41.7% (25/60), respectively, with at least one uncertainty interpretation accounted for 31.2% (34/109). Conclusion There are certain heterogeneities and misclassifications in the real world interpretation of ALK-D5F3 IHC test, which need to be guided by the oncoming expert consensus based on the real world data.