Objective To study the long term results of condylar reconstruction using pedicled patella in the treatment of giant cell tumor of lower femur. Methods From August 1964 to December 1996, 6 patients with giant cell tumor in the lateral condyle of femur were treated with unicondylar resection curettage and reconstruction with pedicled patella autograft. There were 3 males and 3 females. The average age of the pateints was 30.5 years. The operative indications were as the following: tumor was located in one condyle, complicated with pathological fracture or the tumor had invaded underneath cartilage which was difficult for curettage. Surgical procedure included: Lateral condyle resection according to X ray or CT image, curettage of the possible remaining tumor tissues in the medial condyle. A muscle pedicle of 2.5 cm wide from the quadriceps was raised with the patella, then the articular surface of patella was used to reconstruct the articular surface of femoral condyle, ilium graft(sometimes allograft) was used to fill the defect proximal to the patella. The grafts was fixed by screws and(or) plates. Anterior cross ligament was fixed to the patella. Results 6 patients were followed up for a mean period of 136 months. There were no infection, recurrence, metastasis and instability. All patients could walk for a long distance. The range of motion of the involved knees was between 80? and 120?. There was no varus deformity under stress test, but about 5 degrees valgus deformity under stress test could be found in some, muscle strenth was 5 grade. Conclusion Pedicled patella autograft is a good method for the treatment of giant cell tumor that invades unilateral condyle of lower femur, it is specially suitable to the patients with pathological fracture or severe destruction underneath the cartilage. Thorough resection and curretage of the tumor, preserving the blood supply of patella, refixing the cross ligament, and lower placement of patella are the key points to obtain the satisfactory results.

Objectives To investigate the prenatal diagnosis method of spinal muscular atrophy with amniotic fluid sample.Methods Totally 1 064 amniotic fluid samples from mid-trimester pregnant women were enrolled during January 2015 and January 2016 in 4 hospitals.Genetic analysis was performed for detecting potential contamination of maternal tissue by a genetic technique based on short tandem repeat ( STR) markers.Deletion of SMN1 gene was detected in 1 062 uncontaminated amniotic fluid samples by real-time PCR and multiplex ligation-dependent probe amplification ( MLPA) respectively.Results Two contaminated amniotic fluid samples were detected within 1 064 mid-trimester pregnant women by STR genotyping.The other 1 062 uncontaminated amniotic fluid samples were tested by real-time PCR.There were 37 samples with heterozygous deletion of Exon 7 of SMN1 gene ( 3.67%) , 34 samples with heterozygous deletion of Exon 8 of SMN1 gene (3.2%) and two samples with homozygous deletion of Exon 7 and Exon8 of SMN1 gene ( 0.19%) respectively , while other samples observed with no deletion of Exon 7 and Exon8 in SMN1 gene.Totally 41 samples with heterozygous or homozygous deletion of SMN 1 gene and 55 samples with undetected deletion of SMN 1 gene were confirmed by MLPA and the results showed 100%consistence with that of real-time PCR.Conclusions Both real-time PCR and MLPA are suitable for detecting the deletion of SMN 1 gene with amniotic fluid sample . Real-time PCR exhibits less sample requirement and time compared with MLPA .

Odontogenic keratocyst(OKC)is a common jaw cyst with a high recurrence rate.OKC combined with basal cell carcinoma as well as skeletal and other developmental abnormalities is thought to be associated with Gorlin syndrome.Moreover,OKC needs to be differentiated from orthokeratinized odontogenic cyst and other jaw cysts.Because of the different prognosis,differential diagnosis of several cysts can contribute to clinical management.We collected 519 cases,comprising a total of 2157 hematoxylin and eosin-stained images,to develop digital pathology-based artificial intelligence(AI)models for the diagnosis and prognosis of OKC.The Inception_v3 neural network was utilized to train and test models developed from patch-level images.Finally,whole slide image-level AI models were developed by integrating deep learning-generated pathology features with several machine learning algorithms.The AI models showed great performance in the diagnosis(AUC=0.935,95%CI:0.898-0.973)and prognosis(AUC=0.840,95%CI:0.751-0.930)of OKC.The advantages of multiple slides model for integrating of histopathological information are demonstrated through a comparison with the single slide model.Furthermore,the study investigates the correlation between AI features generated by deep learning and pathological findings,highlighting the interpretative potential of AI models in the pathology.Here,we have developed the robust diagnostic and prognostic models for OKC.The AI model that is based on digital pathology shows promise potential for applications in odontogenic diseases of the jaw.

Objective To explore significance of alpha‐fetoprotein isoform L2(AFP‐L2) in the screening of Down syndrome in pregnant women ,so as to provide references for clinical application .Methods A total of 250 healthy pregnant women and 22 preg‐nant women with Down syndrome were enrolled in this study .Serum specimens were collected and AFP‐12 was separated and cap‐tured by using the magnetic bal ,time‐resolved fluorescence immunoassay was used to detect levels of AFP and AFP‐L2 ,and the percentage of AFP‐L2 (AFP‐L2% ) was calculated .Results The serum level of AFP of pregnant women with Down syndrome [(20.2±4.2)ng/mL]was lower than that of healthy pregnant women[(46.7±19.9)ng/mL],and had statistically significant difference(P<0 .05) .Serum AFP‐L2% of pregnant women with Down syndrome was higher than that of healthy pregnant women , and had statistically significant difference(P<0 .05) .Conclusion Detection of AFP level and AFP‐L2% could be an indicator for Dow n syndrome screening .

Spectrophotometry and single factor test were used in the investigation of effects on extraction results of total flavonoids from the fruit ofVernonia esculenta Hemsl. from aspects of ethanol concentration, frequency of extraction, length of extraction time, and the solid-liquid ratio. The extraction conditions were optimized by orthogonal test. The results showed that the optimum extraction conditions were ethanol concentration of 70%, extracted for 4 times, 1 h for each time, and the solid-liquid ratio of 1:20. Under these extraction conditions, the content of total flavonoids in the fruit ofVernonia esculenta Hemsl. was 103.55 mg·g-1.

Objective To establish a system using CK activity assessing with follow-up Duchenne muscular dystrophy (DMD) gene testing to newborn screening for DMD.This study provided a pathway to improve the health outcome for individuals with DMD.Methods Tests for CK were performed with Beckman original reagent on a Beckman Coulter AU 5800.Preliminary studies established a population-based range of CK in newborns using 5 892 deidentified anonymous blood samples,which were collected from Shanghai Changning Maternity and Infant Health Hospital between November 2013 and July 2014.Mutation analysis used multiplex PCR-denature high-performance liquid chromatography (PCR-DHPLC) method for screening large duplications and deletions and Sanger DNA sequencing for screening point DMD gene mutation.Results DMD gene mutations (point mutation,exon60,c.9072G ＞ A) were found in 1 of 5 892 newborn subjects,which had CK level ＞ 2 000 U/L large duplications and deletions in DMD gene were not found.Conclusions A system of analysis for newborn screening for DMD has been established.This path for newborn screening fits our health care system and minimizes the false-positive results for predicting DMD gene mutations by use of CK levels in blood

Odontogenic keratocysts (OKCs) are common cystic lesions of odontogenic epithelial origin that can occur sporadically or in association with naevoid basal cell carcinoma syndrome (NBCCS).OKCs are locally aggressive,cause marked destruction of the jaw bones and have a propensity to recur.PTCH1 mutations (at ～80％) are frequently detected in the epithelia of both NBCCS-related and sporadic OKCs,suggesting that PTCH1 inactivation might constitutively activate sonic hedgehog (SHH) signalling and play a major role in disease pathogenesis.Thus,small molecule inhibitors of SHH signalling might represent a new treatment strategy for OKCs.However,studies on the molecular mechanisms associated with OKCs have been hampered by limited epithelial cell yields during OKC explant culture.Here,we constructed an isogenic PTCH1R135X/+ cellular model of PTCH1 inactivation by introducing a heterozygous mutation,namely,c.403C＞T (p.R135X),which has been identified in OKC patients,into a human embryonic stem cell line using the clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated 9 (Casg) system.This was followed by the induction of epithelial differentiation.Using this in vitro isogenic cellular model,we verified that the PTCH1R135X/+ heterozygous mutation causes ligand-independent activation of SHH signalling due to PTCH1 haploinsufficiency.This activation was found to be downregulated in a dose-dependent manner by the SHH pathway inhibitor GDC-0449.In addition,through inhibition of activated SHH signalling,the enhanced proliferation observed in these induced cells was suppressed,suggesting that GDC-0449 might represent an effective inhibitor of the SHH pathway for use during OKC treatment.

BACKGROUND AND OBJECTIVEHuman achaete-scute homolog 1 (hASH1) gene plays a critical role in development of the central nervous system, automatic nervous system, adrenal medullary chromaffin cells, thyroid C cells and pulmonary neuroendocrine cells. The aim of this study is to determine hASH1 gene expression in the normal lung tissue and various types of lung tumors, to analyze whether its expression correlated with pulmonary neuroendocrine markers, and to explore the possibility of hASH1 as clinical pathological markers in the neuroendocrine tumors compared with previous neuroendocrine tumor markers.

METHODShASH1, Chromogranin A, Synaptophysin and CD56 expression were examined in lung tumor specimens (lung inflammatory pseudotumor, squamous cell carcinoma, adenocarcinomas, large cell carcinoma, typical carcinoids, atypical carcinoids, large cell neuroendocrine carcinomas and small cell lung carcinoma and corresponding normal lung specimens) using immunohistochemistry (S-P method). Western blot and reverse transcription polymerase chain reaction (RT-PCR) assay were applied to detect the expressions of hASH1 protein and mRNA in lung cancer tissues.

RESULTShASH1 expression was positive in 2/16 (12.5%) typical carcinoids, 15/20 (75%) atypical carcinoids, 6/10 (60%) large cell neuroendocrine carcinomas and 31/40 (77.5%) small cell lung carcinoma, respectively, but not in any normal lung tissue (0/10), lung inflammatory pseudotumor (0/49), squamous cell carcinoma (0/30), adenocarcinomas (0/30) or large cell carcinoma (0/20). There was a significant difference in hASH1 expression between typical carcinoids and atypical carcinoids (P < 0.01), but not in large cell neuroendocrine carcinomas and small cell lung carcinoma (P > 0.05). hASH1 expression highly closely correlated with Chromogranin A, Synaptophysin and CD56 expression (P < 0.05).

CONCLUSIONhASH1 is a new kind of highly specific markers of pulmonary neuroendocrine tumours, and may be applied to clinical pathology diagnosis of the pulmonary neuroendocrine tumors.

Adenocarcinoma ; genetics ; metabolism ; pathology ; Basic Helix-Loop-Helix Transcription Factors ; genetics ; metabolism ; Carcinoma, Large Cell ; genetics ; metabolism ; pathology ; Carcinoma, Neuroendocrine ; genetics ; metabolism ; pathology ; Carcinoma, Squamous Cell ; genetics ; metabolism ; pathology ; Gene Expression Regulation, Neoplastic ; genetics ; physiology ; Humans ; Immunohistochemistry ; Lung Neoplasms ; genetics ; metabolism ; pathology ; Neuroendocrine Tumors ; genetics ; metabolism ; pathology ; Reverse Transcriptase Polymerase Chain Reaction ; Small Cell Lung Carcinoma ; genetics ; metabolism ; pathology

Objective To investigate the value of high resolution CT (HRCT) in displaying the anatomic relationship between labyrinth segment of facial canal and cochlea.Methods Totally 110 patients (220 ears) who underwent HRCT were collected.The original images were transferred to workstation for image processing.MPR images were acquired.The anatomic relationship between labyrinth segment of facial canal and cochlea was observed in oblique coronal MPR images.The bony septum between labyrinth segment of facial canal and cochlea was assessed as definite defect (Type Ⅰ),doubtful defect (Type Ⅱ) or complete (Type Ⅲ),respectively.Results There were 71 ears (71/220,32.27％) of Type Ⅰ,diameters of bone fissure ranged from 0.3-1.3 mm (average diameters [0.64±0.26]mm),86 ears (86/220,39.09％) of Type Ⅱ and 63 ears (63/220,28.64％) of Type Ⅲ,with bony septum thickness ranged from 0.3-1.0 mm (average thickness [0.68±0.15]mm).No statistical difference of rates of the above three types was found between different genders,among age groups and between both side of ears (all P＞0.05).Conclusion HRCT is a reliable method to show the anatomic relationship between labyrinth segment of facial canal and cochlea.

Oral squamous cell carcinoma(OSCC)is the predominant type of oral cancer,while some patients may develop oral multiple primary cancers(MPCs)with unclear etiology.This study aimed to investigate the clinicopathological characteristics and genomic alterations of oral MPCs.Clinicopathological data from patients with oral single primary carcinoma(SPC,n=202)and oral MPCs(n=34)were collected and compared.Copy number alteration(CNA)analysis was conducted to identify chromosomal-instability differences among oral MPCs,recurrent OSCC cases,and OSCC patients with lymph node metastasis.Whole-exome sequencing was employed to identify potential unique gene mutations in oral MPCs patients.Additionally,CNA and phylogenetic tree analyses were used to gain preliminary insights into the molecular characteristics of different primary tumors within individual patients.Our findings revealed that,in contrast to oral SPC,females predominated the oral MPCs(70.59%),while smoking and alcohol use were not frequent in MPCs.Moreover,long-term survival outcomes were poorer in oral MPCs.From a CNA perspective,no significant differences were observed between oral MPCs patients and those with recurrence and lymph node metastasis.In addition to commonly mutated genes such as CASP8,TP53 and MUC16,in oral MPCs we also detected relatively rare mutations,such as HS3ST6 and RFPL4A.Furthermore,this study also demonstrated that most MPCs patients exhibited similarities in certain genomic regions within individuals,and distinct differences of the similarity degree were observed between synchronous and metachronous oral MPCs.