Objective To study the correlation between blood flow parameters by three-dimensional sonography and Nottingham prognostic index (NPI) of breast cancer.Methods A retrospective analysis of sonographic image data of 89 patients who were pathologically confirmed invasive ductal breast cancer was made.The technology of three-dimensional color power angiography (3D-CPA) was used to obtaining vascular index (VI),flow index (FI) and vascular-flow index (VFI) before the operation.NPI was obtained by a formula which was computed on a basis of postoperative pathological data.The case of VI,FI and VFI in different grades and NPI in various prognosis groups were counted,and the relationship between blood flow parameters and NPI was analyzed.Results The correlation coefficient between VI and NPI was 0.643 (P ＜0.0001) and there was no significant correlation between FI,VFI and NPI.Conclusions Among VI and NPI there was a considerable positive correlation,VI was helpful to evaluate the prognosis of patients before operation and to provide basis for clinical treatment programs.

Aim Toinvestigatetheanalgesiceffectsof epidural osthole application on the mechanical allodyn-ia and the ERK/MAPK signaling pathway and the expression of COX-2 mRNA in the spinal dorsal horn.Methods 125adultmaleSDratswererandomizedin-to five groups( n=25 each) :Blank, Sham, NP, Ost and vehicle. At postoperative day 6, 1mg/rat osthole 50 μl was injected epidurally into group Ost and the same volume of vehicle was given into group vehicle. The mechanical pain threshold was measured by 50%MWT at 1 day before operation and the 3 rd,6 th,7 th, 14 th,21 st day after operation. After the measurement of pain threshold on postoperative day 14 , the L4-6 segment of spinal dorsal horn was removed for determi-nation of the expression of ERK, pERK and COX-2 mRNAbyWesternblotandRT-PCR.Results Com-pared with blank group, the mechanical pain threshold was only down-regulated at day 1 after operation in sham group, the expression of pERK and COX-2 mR-NA in sham group showed no significant difference ( P>0. 05 ); the mechanical pain threshold was signifi-cantly down-regulated after operation in NP, Ost and vehicle groups( P<0. 05 ) and the expression of pERK and COX-2 mRNA was significantly increased ( P <0. 05). Compared with vehicle group, the pain thresh-old in Ost group was significantly increased after drug administration( P<0. 05 ) and the expression of pERK and COX-2 mRNA was significantly reduced ( P <0. 05 ) . The expression of ERK showed no significant difference among each group(P>0. 05). The correla-tion analysis on pERK1/2 and COX-2 mRNA revealed the Pearson correlation coefficient was 0 . 878 and 0 . 910 , suggesting a strong positive correlation between pERKandCOX-2mRNA.Conclusions Ostholead-ministrated in the early stage after surgery can alleviate the nucleus pulposus-induced radicular inflammatory pain probably by inhibiting the expression of pERK and COX-2 mRNA in spinal dorsal horn.

OBJECTIVE: To explore the clinical and genetic characteristics of a fetus with Melnick-Needles syndrome (MNS). METHODS: A fetus with MNS diagnosed at Ningbo Women and Children's Hospital in November 2020 was selected as the study subject. Clinical data was collected. Pathogenic variant was screened by using trio-whole exome sequencing (trio-WES). Candidate variant was verified by Sanger sequencing. RESULTS: Prenatal ultrasonography of the fetus had shown multiple anomalies including intrauterine growth retardation, bilateral femur curvature, omphalocele, single umbilical artery, and oligohydramnios. Trio-WES revealed that the fetus has harbored hemizygous c.3562G>A (p.A1188T) missense variant of the FLNA gene. Sanger sequencing confirmed that the variant was maternally derived, whilst its father was of a wild type. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be likely pathogenic (PS4+PM2_Supporting+PP3+PP4). CONCLUSION The hemizygous c.3562G>A (p.A1188T) variant of the FLNA gene probably underlay the structural abnormalities in this fetus. Genetic testing can facilitate accurate diagnosis of MNS and provide a basis for genetic counseling for this family.
Child ; Female ; Humans ; Pregnancy ; Abnormalities, Multiple/genetics* ; Fetal Growth Retardation ; Fetus ; Filamins/genetics* ; Genetic Counseling ; Mutation ; Osteochondrodysplasias

Objective: To investigate the status of immunization of National Immunization Program (NIP) and its adverse reaction rate in children with tuberous sclerosis. Method: Questionnaire survey was adopted to identify the vaccination coverage and its adverse events; 72 cases of children with tuberous sclerosis and 78 normal controls (healthy children completing age-appropriate NIP) admitted to Chinese People′s Liberation Army General Hospital from December 2014 to November 2015 were involved into this study. Result: The age-appropriate NIP coverage rate of tuberous sclerosis was 36%(26/72). The coverage rate of bacillus calmette-guerin (BCG), hepatitis B vaccine 1^st to 3^rd doses (HepB1-3), oral poliovaccine 1^st dose (OPV1), diphtheria, pertussis and tetanus 1^st dose (DPT1), DPT1-3, meningococcal polysaccharide vaccine group A (MPVA), measles amd rubella vaccine/measles vaccine 1^st dose (MRV/MCV1), and Japanese encephalitis vaccine 1^st dose (JEV1) were 100%(72 cases), 75%(51 cases), 97%(66 cases), 91%(62 cases), 82%(56 cases), 66%(45 cases), 69%(42 cases), and 61%(37 cases) respectively. The reasons why the children did not complete the vaccination plan were that parents were concerned about vaccination-induced seizures or seizures had not been controlled. Among 72 children with TSC, the rate of adverse events or suspected adverse events after vaccination was 17% (12 cases), which was higher than the normal control children (2 cases, 3%) (χ²=8.799, P<0.05). The main adverse events were seizure events, which accounted for 92%(11 cases). Conclusion The age-appropriate NIP coverage rate among children with tuberous sclerosis is low. The high incidence of adverse events may be associated with a fact that there are some nervous system abnormalities in cases with tuberous sclerosis. TSC children vaccination is relatively safe, with no serious adverse events.

Objective To assess the efficacy and safety of mammalian target of rapamycin (mTOR) inhibitor rapamycin in treatment of children with cardiac rhabdomyoma,associated with tuberous sclerosis complex (TSC).Method The clinical data of children with cardiac rhabdomyomas,who had received a diagnosis of TSC previously,were collected between September 2011 and November 2015 from Pediatric Department of the People's Liberation Army General Hospital.Patients in line with the inclusion criteria received long-term treatment with sirolimus.The starting doses of sirolimus was 1 mg/ (m2 · d),and the plasma concentration was maintained at 5-10 μg/L.The size and number of cardiac rhabdomyomas were analyzed after treatment with rapamycin,and the efficacy and safety were assessed.The Wilcoxon test was used to analyze data.Result All the 51 children met the inclusion and exclusion criteria,including 30 males and 21 females.The median age for rapamycin treatment was 15.0 months (7.0-35.0 months).Tumors disappeared in 26 (51％) children,decreased by more than 50％ (including 50％) in 15 (29％)children,decreased by less than 50％ in 5 (12％) children,and had no change or progressed in 4 (8％)children.The number of tumors decreased by 77 (72％).The median maximum diameter of tumor was 8.7(5.9-11.3) mm before treatment,0.0 (0.0-4.0) mm after treatment,and the median decrease of tumor size were 6.7 (3.9-10.0) mm (Z =-8.817,P ＜ 0.01).The median disappearance time was 3.26 (2.92-5.37) months.Among different age groups,after treatment by rapamycin,the rate of tumor's disappearance was 50％ (12/24) in 0-1 years group.Tumors disappeared in 10 of 16 patients in ＞ 1-3 years group and in 4 of 11 patients in ＞ 3 years group.The rate of tumor's disappearance was the highest after 3 months of treatment as compared with 6 and 12 months of treatment.Ten children had adverse event that was related to rapamycin.Canker sore was reported in one child and dyslipidemia was reported in 9 children.Conclusion Rapamycin is efficacious and well tolerate in treatment of cardiac rhabdomyomas associate with TSC,and lead to a reduction in tumor size and number,in addition,significantly shorten the duration of cardiac rhabdomyoma.

Impaired eady phase insulin secretion is an important reason for leading to postprandial hyperglycemia.Nateglinide is a rapid-acting insulin secretagogue,which reduces postprandial blood glucose of type 2diabetic patient by restoring early phase insulin secretion.The efficacy and safety have been fully verified by clinical administration and it is more widely used to treat type 2 diabetic patients.Both sulfonylureas and glinides were named insulin secretagogue agents and regarded as alternative first-line drugs in the 2010 Chinese Guideline for treatment of type 2 diabetes.AACE/ACE Consensus statement claimed that glinides would be one of the important choices after metformin.In order to further guide the clinical application of nateglinide,16 national specialists in the field of endocrinology and metabolism of China discussed,drafted,and edited this consensus.The current consensus combined clinical evidences at home and abroad.systematically reviewed and summarized tlle results of these studies about nateglinide.It will provide guiding recommendations and reference concerning how to reasonably and effectively use nateglinide in the clinical practice.

Objective:To explore the genetic etiology of a child with Cowden syndrome 1 (CS1).Methods:A child who had visited the Ningbo Women and Children's Hospital on August 26, 2022 was selected as the study subject. Clinical information of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his family members and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results:The child, a 13-year-old boy, had manifested with severe mental retardation, hyperactivity, autistic behavior, sparse and prominent teeth, macrocephaly, and skin freckles on the penis. His mother had presented with multiple papules, hamartomatous polyps, thyroid adenoma and macrocephaly. WES results revealed that the child has harbored a nonsense c. 781C>T (p.Q261*) variant of the PTEN gene, which was inherited from his mother. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.781C>T variant was classified as likely pathogenic (PVS1+ PM2_Supporting). Conclusion:The c. 781C>T variant of the PTEN gene probably underlay the pathogenesis in the child and his mother. Above finding has facilitated genetic counseling for this family.

Objective:To establish the acute symptomatic osteoporotic thoracolumbar fracture (ASOTLF) classification system, and to examine the reliability and evaluate the effect of clinical application.Methods:A retrospective case series study was conducted to analyze the clinical data of 1 293 patients with osteoporotic thoracolumbar fracture(OTLF) admitted to Honghui Hospital from January 2016 to December 2018. There were 514 males and 779 females, aged 57-90 years [(71.4±6.3)years]. The T value of bone mass density was -5.0--2.5 SD [(-3.1±-0.4)SD]. According to the clinical symptoms a and fracture morphology, OTLF was divided into 4 types, namely type I(I occult fracture), type II(compressed fracture), type III (burst fracture) and type IV(unstable fracture). The type II was subdivided into three subtypes (type IIA, IIB, IIC), and the Type III into two subtypes (type IIIA, IIIB). of all patients, 75 patients (5.8%) were with type I, 500 (38.7%) with type II A, 134 (10.4%) with type IIB, 97 (7.5%) with type IIC, 442 (34.2%) with type IIIA, 27(2.1%) with type IIIB and 18 (1.4%) with type IV. After testing the validity of the classification, different treatment methods were utilized according to the classification, including percutaneous vertebroplasty (PVP) for Type I, PVP after postural reduction for Type II, percutaneous kyphoplasty (PKP) for Type IIIA, posterior reduction and decompression, bone graft fusion and bone cement-augmented screw fixation for Type IIIB, and posterior reduction, bone graft fusion and bone cement-augmented screw fixation for Type IV. The visual analog score (VAS), Oswestry disability index (ODI), Frankel grade of spinal cord injury, local Cobb Angle, and vertebral body angle (vertebral body angle) were recorded in all patients and in each type of patients before surgery, at 1 month after surgery and at the last follow-up. The neurological function recovery and complications were also recorded.Results:The patients were followed up for 24-43 months [(29.9±5.1)months]. A total of 3 000 assessments in two rounds were conducted by three observers. The overall κ value of inter-observer credibility was 0.83, and the overall κ value of intra-observer credibility was 0.88. The VAS and ODI of all patients were (5.8±0.7)points and 72.5±6.6 before surgery, (1.8±0.6)points and 25.0±6.3 at 1 month after surgery, and (1.5±0.6)points and 19.5±6.2 at the last follow-up, respectively (all P<0.05). The Cobb angle and vertebral body angle of all patients were (13.0±9.1)° and (8.0±4.6)° before surgery, (7.9±5.2)° and (4.6±2.9)° at 1 month after surgery, and (9.1±6.0)° and (5.8±3.0)° at the last follow-up, respectively (all P<0.05). At the last follow-up, VAS, ODI, Cobb Angle and VBA of each type of patients were significantly improved compared with those before surgery (all P<0.05). The spinal cord compression symptoms were found 1 patient with type IV and 5 patients with type IIIB preoperatively. At the last follow-up, neurological function improved from grade C to grade E in 1 patient and from grade D to grade E in 5 patients ( P<0.05). The lower limb radiation pain or numbness in 3 patients with type IV and 22 patients with type III preoperatively were fully recovered after surgical treatment at the last follow-up except for three patients. Conclusions:The ASOTLF classification is established and has high consistency and reliability. The classification-oriented treatment strategy has achieved a relatively satisfactory effect, indicating that the classification has a certain guiding significance for treatment of OTLF.

Objective:To investigate the changes, distribution and influencing factors of ocular dominance after small incision lenticule extraction (SMILE).Methods:A retrospective observational case series study was conducted.One hundred and twelve patients (224 eyes) with an average age of 25.1±5.4 years who underwent SMILE surgery at Tianjin Eye Hospital from November 2017 to February 2018 were enrolled.There were 42 male and 70 female patients.The dominant eye was determined using the hole-in-the-card test before and after the surgery.Subjective and objective refraction and uncorrected visual acuity examination were performed before operation, and 1 day, 1 week, 1 month and 3 months after operation.The subjects were divided into switch group and non-switch group based on whether the dominant eye changed after surgery.Binary logistic regression was used to analyze the main influencing factors of dominant eye switches.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Tianjin Eye Hospital (No.201905). Written informed consent was obtained from each patient before any medical examination.Results:There were 18 patients (16.1%) in the switch group including 7 males (38.9%) and 11 females (61.1%), and 94 patients (83.9%) in the non-switch group including 35 males (37.2%) and 59 females (62.8%). No statistically significant difference was found in sex between the two groups ( χ2=0.02, P=0.89). At 1 month and 3 months after the surgery, there was a statistically significant difference in the cylindrical power between the dominant and non-dominant eye ( t=2.31, 1.95; both at P<0.05). Binary logistic regression equation showed that spherical equivalent[odds ratio ( OR)=0.47, 95%confidence interval ( CI): 0.35-0.66]and refractive error difference ( OR=3.04, 95% CI: 2.12-4.36) were significantly related to the eye dominance switches. Conclusions:There were 16.1% of patients having eye dominance switches after SMILE.The dominant eye transfomation is associated with higher spherical equivalent and anisometropia difference before surgery.

Objective:To investigate the differences in refractive astigmatism, the anterior corneal surface astigmatism and ocular residual astigmatism between dominant and non-dominant eyes in myopia.Methods:A corss-sectional study was conducted.Two hundred and seventy-six eyes from 138 patients with myopia who were to receive corneal refractive surgery in the Refractive Surgery Center of Tianjin Eye Hospital from January to March 2018 were included.Ocular dominance was assessed with the hole-in-the-card test.The manifest refraction and corneal topography were performed in order to measure the sphericity, spherical equivalent, the astigmatism of anterior corneal surface and total cornea.Vector analysis was used to calculate the value of the ocular residual astigmatism and the components of astigmatism, including J0 and J45 of both the refractive astigmatism and the astigmatism of anterior corneal surface.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Tianjin Eye Hospital (No.201909).Results:It was found that 61.6%(85/138) of the subjects was right-eye dominant.There was no significant difference in sphericity and spherical equivalent, J0 and J45 of the refractive astigmatism and the astigmatism of anterior corneal surface between dominant and non-dominant eyes (all at P>0.05). The magnitude of the ocular residual astigmatism of the dominant eye was 0.607(0.451, 0.808)D, which was lower than 0.701(0.497, 0.901)D of the non-dominant eye, showing a statistically significant difference ( Z=-2.52, P=0.01). Conclusions:In the myopic population with no significant difference in the sphericity and spherical equivalent between the dominant and non-dominant eyes, the magnitude of the ocular residual astigmatism of the dominant eye is significantly lower than that of the non-dominant eye, which may play an important role in the ocular dominance formation.