Objective:To carry out genetic analysis on two families with carriers of small terminal translocations using karyotyping analysis and genomic copy number variation sequencing (CNV-seq).Methods:Two couples undergoing prenatal diagnosis at the Tianjin Central Hospital of Obstetrics and Gynecology respectively on April 12, 2020 and December 17, 2021 were selected as the study subjects. With informed consent, amniotic fluid and peripheral blood samples were collected and subjected to conventional karyotyping and CNV-seq analysis for the detection of chromosomal microdeletion/duplications.Results:Both couples had given births to children with chromosomal aberrations previously, and both fetuses were found to have abnormal karyotypes. CNV-seq showed that they had harbored microdeletion/duplications, and their mothers had both carried balanced translocations involving terminal fragments of chromosomes.Conclusion:For fetuses with small chromosomal segmental abnormalities, their parental origin should be traced, and the diagnosis should be confirmed with combined genetic techniques.

Objective:To evaluate the value of target blood pressure management based on cerebral oximetry index (COx) during cardiopulmonary bypass (CPB) in preventing postoperative delirium (POD) in patients with acute type A aortic dissection (ATAAD).Methods:One hundred and fifty-seven patients with ATAAD, aged 18-64 yr, regardless of gender, were divided into 2 groups by a random number table method: traditional experience group (group C, n=81) and COx management group (group M, n=76). The mean arterial pressure in group C was maintained in the traditional range of 60-80 mmHg during CPB. In group M, the mean arterial pressure range was obtained based on the COx and maintained within this range during CPB. The primary outcome assessed was the development of delirium within 7 days after surgery. Secondary outcomes included other postoperative complications, tracheal extubation time, and duration of cardiac intensive care unit stay. Results:Compared with group C, the incidence and severity scores of POD were significantly decreased, the duration of POD was shortened, the duration of POD was shortened, the extubation time and duration of cardiac intensive care unit stay were shortened, and the incidence of postoperative cerebral infarction and acute kidney injury was decreased in group M ( P<0.05). Conclusions:Target blood pressure management based on COx during CPB is helpful in reducing the occurrence of POD and improving the prognosis of patients undergoing surgery for ATAAD.

Objective:To explore the application value and treatment effects of multiple free anterolateral perforator flaps of calf for reconstruction of multiple digital wounds in single hand.Methods:From August 2020 to March 2022, 12 patients with soft tissue defects in 35 digits were treated in Department of Hand Surgery, Suzhou Ruihua Orthopaedic Hospital. Ten patients were male and 2 were female, aged 25 to 58 years old. Of the patients, 1 had soft tissue defects in 5 digits, 3 in 4 digits, 2 in 3 digits and 6 in 2 digits. The size of defects was from 1.2 cm ×1.2 cm to 7.0 cm×3.5 cm after debridement. The vascular perforators discovered from intraoperative explorations were found originating from the superficial peroneal artery in 24 flaps, from the peroneal artery in 7 flaps and from the anterior tibial artery in 4 flaps. During surgery, the perforator artery and accompanying veins of the flaps were anastomosed with the proper digital artery and palmar or dorsal subcutaneous veins in the recipient site, respectively. The size of the flaps was from 1.5 cm×1.5 cm to 7.5 cm×4.0 cm. No nerve was affected in the surgery. The wound at donor sites in the calf was sutured directly. Regular postoperative follow-ups were conducted at outpatient clinics. The comprehensive evaluation scale of flap was used to assess the conditions of the donor and recipient sites.Results:In this study, all 35 soft tissue defects of digits in 12 patients were reconstructed by the anterolateral perforator flaps of calf. All the 35 flaps survived after surgery, with a 100% of survival rate. The patients were instructed to carry out early functional training after surgery. Follow-up lasted 6 to 24 months, with an average of 11 months. Twenty-five flaps were found in slightly swollen, and further flap thinning surgery were carried out 3 months after the primary surgery, while the rest of the flaps had good appearance and texture. At 6 months after surgery, all flaps recovered a partial deep and shallow sensory and sense of touch. All wound at donor sites in calf had one-stage healing without dysfunction. The comprehensive evaluation scale was excellent in 28 flaps and good in 7 flaps. The excellent and good rate was 100%.Conclusion:It is an effective method to use multiple free anterolateral perforator flaps of calf to reconstruct multiple digit defects in single hand. The flaps can be conveniently harvested and the multiple digital defects in single hand can be reconstructed in primary surgery with small damages to the donor sites and together with satisfactory clinical outcomes.

Objective To investigate the effect of endoscopic prebiopsy forceps on the detection rate of polyps in the right semicolon.Method Clinical data of 148 patients diagnosed and treated from March 2022 to December 2022 who were detected as polyps in the right semicolon by general electronic colonoscopy were collected,and clinical data of the patients who underwent endoscopic prebiopsy forceps were re-examined and the patients underwent endoscopic treatment within 1 month.The differences in general data,polyp number detected,polyp size,morphology and pathological diagnosis between the two groups were analyzed and compared.Results 168 polyps were detected in the right semicolon in the general colonoscopy group,and 41 polyps were missed in reexamination using endoscopic prebiopsy forceps,with a missed diagnosis rate of 19.62%.The detection rate of<5 mm polyps was higher in the endoscopic prebiopsy forceps group than that of general colonoscopy group,the difference was statistically significant(P<0.05).The polyps in the two groups were mainly wide-basal type,and the pathological properties were mainly tubular adenoma,there was no statistical significance among all groups(P>0.05).No complications such as bleeding and perforation occurred in the two groups.Conclusion Endoscopic prebiopsy forceps can significantly improve the detection rate of polyps in the right semicolon,in particular,the intraoperative search for disappeared preoperatively identified intestinal polyps,as well as smaller diameter intestinal polyps,which is worthy of further clinical promotion.

Objective: To evaluate the safety and efficacy of helical tomotherapy using simultaneously integrated boost and simultaneous integrated protection technique in the treatment of unresectable biliary tract cancers. Methods: The data of 23 patients with unresectable biliary tract cancer who received tomotherapy-based hypofractionated radiotherapy at Comprehensive Cancer Centre of Drum Tower Hospital,the Affiliated Drum Tower Clinical College of Nanjing Medical University between February 2015 and October 2017 were analyzed. There were 10 males and 13 females, aged from 40 to 85 years(median:58 years). Pathological type included intrahepatic cholangiocarcinomas(n=11), gallbladder cancers(n=6),extrahepatic cholangiocarcinomas(n=6). The irradiated sites covered primary tumors and areas of local invasion,including metastatic lymph nodes which were confined to the abdominal or retroperitoneal space. Dose escalation was achieved using simultaneously integrated boost(SIB) technique, and simultaneous integrated protection(SIP)technique was used to protect gastrointestinal tracts and other adjacent organs. Cox regression modal and Kaplan-Meier analysis were used to analyze the associations between patients′ characteristics and overall survival(OS). Results: The median total radiation dose was 54 Gy(range: 28-72 Gy)and median biologically effective dose(BED)was 74.4 Gy(range: 37.8-115.2 Gy).The median planning target volume(PTV)was 445.79 cm³(range:126.02-950.12 cm³). Based on the various PTV,patients received 2.4-6.0 Gy/fraction with 8-28 fractions. The local control rate was 65.2% and the median OS was 11.3 months(range:2.1-31.9 months).The most common cause of death was out-field failure and only 3 patients died of in-field failures. The longest survival was 31.9 months. BED≥70 Gy significantly improved OS,compared to BED<70 Gy(16.8 months vs.5.1 months)(HR=0.146, 95%CI:0.028-0.762, P=0.022). No patients developed grade ≥4 toxicities. Conclusions Helical tomotherapy-based hypofractionated radiotherapy is effective and well tolerated for patients with unresectable biliary tract cancer. The dose escalation with higher BED could improve the survival for such patients.

Objective To investigate the value of prenatal echocardiographic diagnosis of anomalies of the right aortic arch ( RAA ) and its branch type ,and provide rapid diagnostic methods . Methods A retrospective analysis of 55 cases of RAA of prenatal ultrasound diagnosis results ,and their imaging characteristics were summarized . Results There were 55 cases of anomalies of the RAA ,included 42 cases of RAA with aberrant left subclavian artery ( RAA-ALSA ) and 13 cases of RAA with mirror image branching pattern( RAA-MB) ,1 case of double aortic arch(DAA) was misdiagnosed as RAA . The prenatal echocardiographic characteristics of RAA-ALSA :in three-vessel-aortic arch view ,the first branch of the aortic arch was the left carotid artery ,which ran in front of the trachea ,and ALSA ran behind the trachea and esophagus . The prenatal echocardiographic characteristics of RAA-MB :the first branch of the aortic arch was the brachiocephalic trunk ,which ran in front of the trachea and was divided to the left carotid artery and the left subclavian artery . Conclusions Prenatal ultrasound can qunickly and accurately diagnose anomalies of the right aortic arch and its branch type according to the direction ,thickness and secondary branches of the first branch of the aortic arch . The location of arterial duct is helpful to judge the formation of vascular ring .

Objective To investigate the click and tone burst evoked auditory brainstem responses (ABR)in normal Wistar rat,and to establish the standards of ABR testing method,and to provide a reference for studies rat audition.Methods Fifteen male Wistar rats(30 ears)were used in this sutdy.The latency and amplitude of ABR e-voked by click and TB at 80,50 and 20 dB SPL were measured.Results The occurrence rate of wave Ⅱand Ⅳat low levels(20 dB SPL)was nearly the same according to the amplitude.The cABR (dB peSPL)threshold was 21.83± 4.45 and tbABR (dB SPL)thresholds were 2.02±0.09,2.88±0.16,3.77±0.25,4.69±0.29,and 5.78±0.41, respectively.80 dB stimulus evoked cABR (peSPL)wave I,I b,II,III,IV and V latency (ms)were 1.76±0.12, 2.13±0.11,2.67±0.16,3.49±0.28,4.39±0.29,and 5.45±0.41,respectively.tbABR (SPL)of wave I,Ib, II,III,IV and V latency (ms)at 4 kHz were 2.02±0.09,2.88±0.16,3.77±0.25,4.69±0.29,and 5.78± 0.41,respectively.At 8 kHz they were 1.76±0.07,2.28±0.10,2.63±0.16,3.49±0.21,4.44±0.28,and 5.48±0.43;while at 12 kHz were1.76±0.08,2.24±0.12,2.61±0.25,3.53±0.25,4.46±0.32,and 5.52± 0.45;at 16 kHz were 1.79±0.10,2.25±0.12,2.70±0.18,3.62±0.27,4.52±0.37,and 5.61±0.49;at 24 kHz were 1.75±0.09,2.27±0.11,2.67±0.16,3.60±0.27,4.52±0.38,and 5.60±0.51;at 32 kHz were 1.77±0.10,2.24±0.12,2.64±0.20,3.59±0.34,4.52±0.40,and 5.61±0.52,respectively.Conclusion Wave Ⅳ was the best wave to determine threshold of click and tone burst evoked auditory brainstem response in rat.

Objective To explore the relationship between serum 25 (OH)D level and cognitive function in patients with Alzheimer's disease (AD).Methods Totally 113 AD impatients were enrolled in this study.Their serum 25 (OH) D2,25 (OH) D3,and total 25 (OH) D levels were determined by liquid chromatography-tandem mass spectrometry (LC-MS/MS).Patients were divided into Vitamin D severe deficiency group [25 (OH)D level≤25 nmol/L],deficiency group [25 (OH)D levels:25-50 nmol/L],insufficiency group [25 (OH) D level:50-75 nmol/L],and sufficiency group [25 (OH) D level ≥ 75 nmol/L] according to the criteria proposed by US Institute of Medicine.The cognitive function was assessed by MMSE score.The association between serum 25 (OH) D level and cognitive function was systematically analyzed.Results The serum levels of 25 (OH) D,25 (OH) D2,and 25 (OH) D3 were (27.08 ± 15.33) nmol/L,(1.23 ± 0.93) nmol/L and (24.50 ± 13.04) nmol/L in AD patients.The proportions of severe deficiency,deficiency,insufficiency,and sufficiency were 60.18％ (68/113),30.97％ (35/113),7.97％ (9/113),and 0.88％ (1/113),respectively,among these AD patients.A positive correlation was found between serum 25 (OH) D concentration and MMSE score in AD patients.Conclusions Impatients with AD often have severe vitamin D deficiency and need vitamin D supplementation.Serum 25 (OH) D concentration is associated with cognitive function,and therefore vitamin D supplementation may improve cognitive function.

Objective To evaluate the efficacy of solifenacin with or without tamsulosin in patients with overactive bladder (OAB).Methods Fifty-three patients with OAB were randomly divided into two groups (group A 27 patients, group B 26 patients).The patients received either solifenacin 5 mg/day in group A or combined with Tamsulosin 0.2 mg/day in group B for two weeks.During the treatent period all the patients recorded voiding and adverse events in a diary.The symptoms of urgency, frequency, incontinence were evaluated by OABSS scores at the begining and end of the therapy period.The results of the efficacy and safety were analyzed by using SPSS 13.0.Results The OABSS scores at the begining and end for the two groups were significantly different ( P ＜ 0.01 ).In both groups the efficacy was obvious.The OABSS scores at the end of the therapy between group A and B were significantly different (P ＜0.05 ).The efficacy of group B was better than that of group A.Conclusion The efficacy of solifenacin combined with tamsulosin was better than solifenacin alone in OAB.