Objective:To observe the effects of electroacupuncture(EA)on sleep electroencephalogram(EEG)and event-related potential(ERP)in patients with somatoform disorders(SFD). Methods:Seventy-five SFD patients were recruited as an EA group to receive EA at Shenting(GV24)and Baihui(GV20)once daily,30 min each time,with 6 straight days as a treatment course,and 4 courses were conducted at 1-day intervals.Before treatment,patients underwent a survey using a physical symptom checklist on their primary symptoms.Before and after treatment,their sleep EEG was monitored using Quisi,and the ERP mismatch negativity(MMN)and P300 were detected.The Quisi sleep EEG and ERP were also examined among 40 normal volunteers as the normal group data. Results:During the trial,13 cases were removed from the EA group due to incomplete data,and 62 cases were finally included for statistical analyses.Of the 62 SFD patients,the main disturbing symptoms were cognitive impairments,sleep disorders,respiratory symptoms,digestive symptoms,five-sense organ problems,and cardiovascular symptoms in order.Before treatment,the EA group had increased MMN and P300 latencies and decreased amplitudes compared with the normal control group(P<0.01 or P<0.05);according to Quisi,the EA group also had reduced total sleep time(TST),shorter rapid eye movement sleep(REM)latency(RL)and REM time(RT),smaller number of REM period(NRP),extended sleep latency(SL),longer awaking time(AT),lower sleep efficiency(SE),larger percent of non-rapid eye movement sleep(NREM)stage 1(S1)and smaller percent of NREM stage 2(S2),and the percent of slow wave sleep(SWS),i.e.NREM stage 3(S3)plus stage 4(S4),also went down,all presenting significant differences between groups(P<0.01 or P<0.05).After 4 courses of treatment,the MMN and P300 latencies were reduced,and their amplitudes became larger in the EA group compared with the baseline(P<0.05);they had insignificant differences compared with the normal control group(P>0.05).Quisi showed that the TST and RL increased,and the SL and AT decreased in the EA group,and the predominant change in sleep architecture was reduced S1 percent,increased S2,and improved SE,all showing significant intra-group differences(P<0.01 or P<0.05);however,the intra-group difference in the NRP was statistically insignificant(P>0.05).Except the TST,RT,S1 percent,and SWS,there was no statistical significance in comparing the other Quisi parameters(including RL,NRP,SL,AT,SE,and S2 percent)between the two groups(P>0.05). Conclusion:SFD patients have a variety of clinical symptoms,and most of them show abnormal sleep EEG and ERP;EA can correct abnormal sleep EEG parameters and the MMN and P300 of ERP in SFD patients.

Objective To assess whether pregnancy affects the survival of pregnancy-associated breast cancer (PABC), compared with non-PABC. Methods We retrospectively analyzed the data of PABC patients.PABC cases and non-PABC cases were matched with 1:2 according to T stage, molecular classification, age of onset and year of diagnosis.The Kaplan-Meier method was used to estimate DFS and OS, and Log rank test was used for comparison.Cox regression analysis was used to evaluate the risk factors that affect the prognosis of PABC. Results We enrolled 35 patients in the PABC group (pregnancy: 10;postpartum: 25), and 70 patients in the non-PABC group.The median follow-up time was 68.5 and 70.7 months, respectively.The 5-year DFS was 51.6% in the PABC group, and that of the non-PABC group was 72.8%(χ²=4.72, P=0.029);the 5-year OS of the PABC group and the non-PABC group were similar (χ²=1.769, P=0.183).Cox regression analysis showed that pregnancy was an independent risk factor for DFS of PABC patients (P=0.011). Conclusion Patients with breast cancer during pregnancy have a higher risk of recurrence.Further research is necessary to diagnose pregnancy-associated breast cancer earlier and adopt measures to improve the curative effect.

Objective:To explore the genetic basis for a child with congenital disorder of glycosylation type 1y (CDG-1y) in conjunct with congenital dysplasia of external auditory canal.Methods:Trio-whole exome sequencing (trio-WES) was carried out for the family. Candidate variant was verified by Sanger sequencing. Pathogenicity of the variant was predicted with a variety of bioinformatic tools.Results:The proband, a 10-years-old boy, presented with mental retardation, microcephaly and dysplasia of external auditory canal. Trio-WES revealed that he has harbored a de novo frameshift variant c. 302dupC (p.Y102Lfs*2) in exon 4 of SSR4 gene, which was unreported previously (PS2). The variant was absent in major allele frequency databases (PM2) and was predicted to be pathogenic by multiple bioinformatic tools (PP3). UCSF chimera software suggested that the c. 302dupC (p.Y102Lfs*2) variant can induce significant alteration to the structure of SSR4 protein, resulting loss of function (PVS1+ PM1). Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PVS1+ PS2+ PM1+ PM2+ PP3) Conclusion:The de novo frameshift variant c. 302dupC (p.Y102Lfs*2) of the SSR4 gene probably underlay the child′s condition. Above finding has enriched the spectrum of SSR4 mutations and the phenotypic spectrum of CDG-1y.

OBJECTIVE: To explore the genetic basis for a child suspected for Say-Barber-Biesecker-Young-Simpson syndrome. METHODS: Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing was carried out for the proband. Suspected variants were validated by Sanger sequencing. The impact of the variants was predicted by bioinformatic analysis. RESULTS: The child was found to harbor a de novo missense variant c.2623C>T (p.Asp875Tyr) in exon 13 of the KAT6B gene. The variant was previously unreported, and was not recorded in the major allele frequency database and predicted to be pathogenic based on PolyPhen-2, MutationTaster and PROVEAN analysis. As predicted by UCSF chimera and CASTp software, the variant can severely impact the substrate-binding pocket of histone acetyltransferase, resulting in loss of its enzymatic activity. Based on standards and guidelines by the American College of Medical Genetics and Genomics, the variant was classified to be likely pathogenic (PS2+PM2+PP3). CONCLUSION The child's condition may be attributed to the de novo missense c.2623C>T (p.Asp875Tyr) variant of the KAT6B gene.
Blepharophimosis ; Child ; Congenital Hypothyroidism ; Facies ; Female ; Heart Defects, Congenital ; Histone Acetyltransferases/genetics* ; Humans ; Intellectual Disability ; Joint Instability ; Mutation ; Phenotype

Objective: To investigate the possibility and diagnostic efficiency of ¹⁸F-NaF PET/CT bone scan after oral administration (PO) by comparing with that of intravenous injection (IV). Methods: Fifty patients (19 males, 31 females; average age: (52.8±11.7) years) with cancer who underwent PET/CT scans after oral and intravenous administration of ¹⁸F-NaF respectively with an interval of 2-7 d from June 2015 to September 2016 were prospectively enrolled. Single-phase ¹⁸F-NaF PET/CT was performed 60 min after IV, and dual-phase ¹⁸F-NaF PET/CT was performed 60 and 120 min after PO. All PET/CT images were reviewed, lesions were counted, and maximum standardized uptake value (SUV_max) and target/non-target (T/NT) ratios were calculated and compared. Paired t test was used. Results: Forty-one patients (15 males, 26 females; average age: (53.5±10.4) years) who finished all PET/CT scans were enrolled. The images at 120 min after PO was visually similar to the images at 60 min after IV. Three modalities detected the same cases and lesions (35 positive cases: 25 malignant, 8 benign, 2 cases with indefinite diagnosis; 302 lesions: 172 malignant, 108 benign, 22 ambiguous lesions). The SUV_{max-PO60 min} and SUV_{max-PO120 min} were lower than the SUV_{max-IV60 min} in the same lesion (18.22±12.64, 26.60±19.49 vs 28.07±16.34; t values: -12.36 and -3.59, both P<0.05). A total of 194 lesions were included for T/NT ratio analysis. T/NT_{IV60 min}, T/NT_{PO60 min} and T/NT_{PO120 min} were 2.76±1.30, 2.87±1.50, 2.98±1.42, respectively, and T/NT_{PO120 min} was higher than T/NT_{IV60 min} (t=3.18, P<0.05). Conclusion ¹⁸F-NaF PET/CT images after PO, especially at 120 min post-PO, has similar diagnostic power of lesion-detection and SUV_max-measurement with IV.

Purpose The clinical manifestation of primary lymphoma of bone (PBL) is lack of specificity,and it is easy to be misdiagnosed.This study is to investigate the characteristics of ~F-fluorodeoxyglucose (~F-FDG) positron emission tomography/computed tomography (PET/CT) of PBL and to improve the understanding of its imaging findings.Materials and Methods Fourteen patients with PLB (9 males and 5 females) proved by pathology in the Affiliated Hospital of Southwest Medical University from January 2011 to October 2015 were enrolled.18F-FDG PET/CT findings of all the patients were retrospectively analyzed.The CT image,PET image and fusion image were analyzed by 3 physicians of medical imaging.The SUVmax value of the lesion was measured through region of interesting.Results Ten patients with unifocal lesion involved 4 cases of femoral bone,2 cases of pelvis,2 cases of vertebrae,1 case of ulna and 1 case of tibia.The other 4 patients had multifocal lesions.The lesions showed different level of increased radioactivity on the PET imaging with SUVmax of 9.85±4.29.On syn-CT images,6 cases of unifocal PLB showed cribriform or fuzzy boundary insect erosion osteolytic bone destruction,5 of which were accompanied by cortical bone destruction.The other 4 cases of unifocal PLB showed mixed bone destruction.Among the 10 cases of uniffocal PLB,7 of them showed soft tissue masses with unclear boundary and no obvious necrosis or cystic change,1 of them showed pathological fracture and periosteum reaction.The 4 cases of multifocal PBL patients showed multiple osteolytic bone destruction,2 of them had localized soft tissue masses.Conclusion 18F-FDG PET/CT manifestations of PBL have certain characteristics,which is helpful for early diagnosis.It may provide important information for clinical treatment and prognosis evaluation.

Purpose The clinical manifestation of insufficiency fracture (IF) is in lack of specificity,thus it is prone to misdiagnosis.This paper aims explore imaging characteristics of 99Tcm-MDP whole-body bone scan and local SPECT/CT tomography for IF in the anticipation to improve its cognition and diagnosis capability to imaging manifestations.Materials and Methods Thirty patients who were diagnosed as IF by follow-up or imaging in Affiliated Hospital of Southwest Medical University from September 2015 to September 2016 were enrolled.The imaging features of their whole-body bone scan and local S PECT/CT tomography were retrospectively analyzed.Results For 30 patients,20 cases were single bone lesion,and 10 cases were multiple bone lesions.Lesions on the whole-body scan were represented as developer concentration of different level.Fracture line,sclerosis rim/line,soft tissue swelling,wedge-shaped or concave deformity of the vertebra could be observed on the images of SPECT/CT scan.Osteoporosis of different level could be seen on all the 30 patients.No bone destruction could be seen on the lesions and no obvious soft tissue mass around the lesions were formed.Conclusion Manifestation of whole-body bone scan and local SPECT/CT scan of IF is with certain specificity and is of significance in the early-stage diagnosis and differential diagnosis of IF.

Objective To systematically evaluate the consistency of sensitivity (SEN) and specificity (SPE) between positron-emission tomography (PET) /magnetic resonance imaging (MRI) and PET/CT in the diagnosis of lymphoma.Methods The databases,including PubMed,Cochrane Library,Chinese Biomedical Literature Database (CBM),CNKI,Wanfang and VIP,were retrieved till October 2016.The studies published the SEN and SPE of PET/MRI and PET/CT in the diagnosis of lymphoma were collected and selected based on inclusion and exclusion criteria by two reviewers independently.Then,data extraction and analysis were performed by two independent reviewers.Resnlts A total of 6 studies,including 221 cases of patients with lymphoma,wereincluded.Among the 6 studies,4 of them provided patients-based and site-based data (including one provided data about staging ofdisease),and 2 studies only provided site-based data (including one provided data about staging of disease).The results indicated thatboth PET/MRI and PET/CT can accurately detect the lesions in patients with lymphoma,and the locations and numbers of lesions found bythe two methods were almost the same.Additionally,PET/MRI and PET/CT had high SEN and SPE for detection of lesions in patientswith lymphoma.and had high consistency in the diagnosis of lymphoma.Condusion The SEN and SPE of PET/MRI were similar to those of PET/CT in the diagnosis of lymphoma.PET/MRI may become a significant method for diagnosing lymphoma.

Objective To investigate the interrelated liver damage and hepatitis B virus infection among breast cancer patients after chemotherapy, to provide guidance for future breast reduction combined hepatitis B virus infection after chemotherapy liver damage.Methods120 cases of breast cancer patients undergoing chemotherapy combined hepatitis B carries from June 2012 to November 2016 in ningbo women and children's hospital were selected as the research object, depending on whether the infection with the hepatitis B virus into the study group and the control group, the study group HBV-DNA, HBsAg are positive, totaling 62 cases;control group, HBV-DNA, HBsAg were negative, totaling 58 cases;compare two groups of patients after chemotherapy in cases of liver damage.ResultsThe study group after chemotherapy, the incidence of liver dysfunction 48.28% in the control group after chemotherapy, the incidence of liver dysfunction 6.45 percent, the study group after chemotherapy, the incidence of liver dysfunction was significantly lower than the control group, the difference was statistically significant (P<0.05).Study group Ⅰ liver damage degree, degree Ⅱ, degree Ⅲ, degree Ⅳ of apparent higher, the difference was statistically significant (P<0.05), antiviral therapy 20 cases, no antiviral treatment in 42 cases.Antiviral therapy HBV reactivation rate and incidence of liver dysfunction were 5.0%, 20.0%;no antiretroviral therapy in HBV reactivation rate and the incidence of liver dysfunction 31.0%, 52.4% respectively;HBV antiviral therapy re-activation rate and the occurrence of liver dysfunction were significantly lower than not antiviral therapy, and the data were statistically significant (P<0.05).ConclusionThe clinical having close links between liver damage and breast cancer combined hepatitis B virus infection with hepatitis B virus are more likely to occur after infection liver dysfunction chemotherapy, and breast cancer patients after chemotherapy.

Objective To evaluate the diagnostic value of radionuclide salivagram in children with pulmonary aspiration.Methods From March 2012 to June 2015,a total of 62 patients (37 males,25 females;age range:2 d-14 years) with suspected pediatric aspiration pneumonia were enrolled in this retrospective study.All patients underwent gastroesophageal reflux (GER) imaging and(or) radionuclide salivagram.Detection rate of pulmonary aspiration by the two imaging techniques was compared with x2 test.Results Of 62 patients,14 were diagnosed as pulmonary aspiration,including 1 detected by GER imaging,and 13 detected by salivagram.The detection rate for pulmonary aspiration by radionuclide salivagram (26.0％,13/50) was significantly higher than that by GER imaging (3.1％,1/32;x2=7.211,P＜0.05).Eight of the 13 cases with pulmonary aspiration diagnosed by radionuclide salivagram underwent upper gastrointestinal radiography,and 5 cases had visible contrast agent in the airway.Conclusion Radionuclide salivagram has a higher detection rate for pulmonary aspiration compared to GER imaging,and has good concordance with the traditional upper gastrointestinal radiography.