Objective:To explore the genetic etiology of fetuses with congenital heart disease (CHD) through whole exome sequencing (WES).Methods:Thirty seven fetuses identified with CHD by prenatal ultrasonography but with negative results by chromosomal microarray analysis (CMA) at Jinhua Maternal and Child Health Care Hospital from January 2020 to June 2022 were selected as the study subjects, for whom WES was carried out.Results:WES and Sanger sequencing had detected 6 pathogenic or likely pathogenic variants, and 6 variants with unknown clinical significance. The variants had involved 15 loci within 11 genes, in addition with one copy number variation.Conclusion:WES can increase the detection rate for genetic abnormalities among fetuses with CHD, which can facilitate the prenatal diagnosis, evaluation of prognosis and genetic counseling for the couples.

Objective To summarize the experience of minimally invasive tracheotomy under veno-venous extracorporeal membrane oxygenation(VV-ECMO)in 4 cases of severe pneumonia,and to provide examples for airway management of severe pneumonia patients.Methods A retrospective study method was conducted.Four cases of severe pneumonia patients who underwent extracorporeal membrane oxygenation(ECMO)at the intensive care unit(ICU)of Shandong Provincial Hospital Affiliated to Shandong First Medical University from November 2022 to March 2023 were selected as the study subjects,clinical data on the general conditions,imaging examinations before and after admission to ICU,changes in biochemical indexes before and after ECMO technique,and the performance of bedside minimally invasive tracheotomy were collected.Bedside tracheotomy was performed to assist ventilation for patients according to the change of condition.The changes and prognosis of the patients were observed.Results Four patients with severe pneumonia were treated with bedside tracheotomy-assisted ventilation in the state of continuous VV-ECMO,the oxygen saturation was maintained between 0.98-1.00,the airway was cleared and sputum evacuation was smooth,the vital signs were stable after the operation,and the machine was gradually withdrawn.Conclusion During the treatment of severe pneumonia,the safe and rapid completion of bedside minimally invasive tracheotomy in patients with severe pneumonia under continuous VV-ECMO is a new challenge shared by doctors and nurses of otorhinolaryngology,head and neck surgery,and critical care emergency care unit.The four successful cases of bedside tracheotomy after VV-ECMO treatment we report suggest that bedside minimally invasive tracheotomy can safely and rapidly assist airway management,and may provide more useful experiences for the treatment of severe pneumonia and possible new acute respiratory infectious diseases in the future.

Objective:To analyze the significance and factors influencing of CT scan under the modified Valsalva maneuver. Methods:Clinical data of 52 patients with hypopharyngeal carcinoma diagnosed from August 2021 to December 2022 were collected, all patients had calm breathing CT scan and modified Valsalva maneuver CT scan. Compare the exposure effect of the aryepiglottic fold, interarytenoid fold, postcricoid area, piriform fossa apex, posterior hypopharyngeal wall, and glottis with each CT scanning method. The effects of age, neck circumference, neck length, BMI, tumor site, and T stage on the exposure effect were analyzed. Results:In 52 patients, 50 patients（96.15%） completed CT scan at once time. The exposure effect of the CT scan under modified Valsalva maneuver in the aryepiglottic fold, interarytenoid fold, postcricoid area, piriform fossa apex, posterior hypopharyngeal wall was significantly better than CT scan under calm breathing（Z=-4.002, -8.026, -8.349, -7.781, -8.608, all P<0.01）, while CT scan under modified Valsalva maneuver was significantly worse in glottis than CT scan under calm breathing（Z=-3.625, P<0.01）. In the modified Valsalva CT scan, age had no obvious effect on the exposure effect. The exposure effect was better with long neck length, smaller neck circumference, smaller BMI and smaller T stage. The exposure of postcricoid carcinoma was better than pyriform sinus carcinoma and posterior hypopharyngeal wall carcinoma. But differences were not all statistically significant. Conclusion:The anatomical structure of the hypopharynx was clearly under CT scan with modified Valsalva maneuver, which clinical application is simple, but the effect of glottis was worse. The influence of age, neck circumference, neck length, BMI, and tumor T stage on the exposure effect still needs further investigation.
Humans ; Hypopharynx/diagnostic imaging* ; Valsalva Maneuver ; Hypopharyngeal Neoplasms/surgery* ; Tomography, X-Ray Computed ; Carcinoma

Objective:To explore the effect of different post-processing parameters of digital radiography (DR) on the quality of chest X-ray for pneumoconiosis diagnosis, and to provide suggestions on parameter setting suitable for this kind of DR machine.Methods:From January 1, 2022 to June 30, 2022, the chest films of 35 workers in the department of radiology of Hangzhou occupational disease prevention and treatment hospital were randomly selected and printed after setting different image post-processing parameters. The quality of chest film was evaluated by the measurement of optical densitometer and the combination of subjective and objective by professional physicians.Results:When the density is set to 2 and the contrast/detail contrast is 4.5, the optical density of each area of DR chest film meets the requirements of chest X-ray quality, and the qualified rate of physician quality evaluation is the highest.Conclusion:Reasonable setting of image post-processing parameters can improve the quality of chest radiograph.

Objective:To explore the effect of different post-processing parameters of digital radiography (DR) on the quality of chest X-ray for pneumoconiosis diagnosis, and to provide suggestions on parameter setting suitable for this kind of DR machine.Methods:From January 1, 2022 to June 30, 2022, the chest films of 35 workers in the department of radiology of Hangzhou occupational disease prevention and treatment hospital were randomly selected and printed after setting different image post-processing parameters. The quality of chest film was evaluated by the measurement of optical densitometer and the combination of subjective and objective by professional physicians.Results:When the density is set to 2 and the contrast/detail contrast is 4.5, the optical density of each area of DR chest film meets the requirements of chest X-ray quality, and the qualified rate of physician quality evaluation is the highest.Conclusion:Reasonable setting of image post-processing parameters can improve the quality of chest radiograph.

The data of a case of congenital subglottic stenosis (C-SGS) who underwent slide laryngotracheoplasty in the Center for Respiratory Intervention, Children′s Hospital Affiliated to Shandong University in December 2021 was analyzed retrospectively.The patient was a girl aged 2 months and 15 days.She visited the hospital 23 days after tracheotomy due to dyspnea for more than 2 months.The bronchoscopy and annular cartilage B ultrasound results suggested subglottic stenosis and no scar hyperplasia.Based on the medical history, the child was diagnosed with C-SGS.Slide laryngotracheoplasty was performed 2 weeks after admission, and the tracheotomy tube was removed after surgery.The child was followed up 2 months after surgery, and she recovered well with no dyspnea.The study results suggest that early and safe slide laryngotracheoplasty after definite diagnosis can provide immediate and sufficient airway space for C-SGS patients, and protect their voice and swallowing function.

Objective:To analyze the feasibility of hippocampal-avoidance (HA) prophylactic cranial irradiation (PCI) in small cell lung cancer patients (SCLC)(limited stage) after chemotherapy and thoracic radiation.Methods:From June 2016 to March 2019, 40 eligible SCLC patients were recruited and randomly divided into the routine PCI ( n=22) and hippocampal-avoidance PCI (HA-PCI) groups ( n=18). The HA zone was contoured according to the criteria of RTOG 0933. Volumetric-modulated arc therapy (VMAT) was adopted in the HA-PCI group. After radiotherapy, Hopkins verbal learning test (HVLT) and MRI were performed. Results:The average hippocampus volume was (4.01±1.57) cm 3, the average HA volume was (20.13±4.14) cm 3, HA D 100% was (7.19±0.38) Gy and HA D max was (14.38±1.18) Gy. During HVLT, 1-month-after-PCI vs. before-PCI (trial3, trial4, learning, percent retained), 1-month-after-PCI vs. after-PCI (trial3, learning), HA-PCI cohort showed advantages over PCI in HVLT scores. The average follow-up time was (17.00±8.47) months. Two patients with brain metastases which were out of the HAZ received routine PCI. Conclusions:PCI using VMAT technology to protect hippocampus is feasible in dosimetry. The test results indicate that the protective effect of hippocampus protection on memory is worthy of further promotion in clinical practice.

Objective To observe the significance of rehabilitation integrated system for stroke patients. Methods From October, 2013 to June, 2015, 95 stroke patients were divided randomly into experimental group (n=48) and control group (n=47). The experimental group received rehabilitation under the guide of rehabilitation integrated system, while the control group in the routine process. They were assessed with simplified Fugl-Meyer Assessment (FMA) and Barthel Index (BI) before and 3 months after treatment. The satisfaction was also inves-tigated. Results There was no significant difference between groups in the differences of scores of FMA and BI before and after treatment (t<1.044, P>0.05), while the satisfaction was higher in the experimental group (t=4.287, P<0.01). Conclusion The application of rehabilitation integrated system may improve the process of treatment and the efficiency of management, and result in more satisfaction of the stroke pa-tients.

Objective Our study was aimed to study the clinical effect of carbon dioxide laser in the treatment of adult laryn -geal papilloma . Methods Clinical data of patients with adult laryngeal papilloma received treatment at our hospital from January 2012 to June 2014 was retrospectively analyzed .Patients were divided into two groups according to the type of treatment , observation group:received carbon dioxide laser treatment;control group:received tumor forceps treatment .Participants included 61 cases of pa-tients, the observation group of 26 cases, control group 35 cases.Compare the general clinical data , short-term clinical effects(opera-tion time, length of hospital stay , complications , short-term curative effect ) , the change of immune inflammation indexes before and after operation and postoperative recurrence in 1 year of two groups patients. Results The operation time and the length of hospital stay in observation group was significantly lower than that in control group[(33.66 ±4.71)min vs (37.19 ±5.21)min,(4.07 ±1.25)d vs (4.83 ±1.38)d, P<0.05].On the 3th day, The levels of CRP、IL-6、TNF-αand IL-1βin observation group were ( 6.15 ±1.67 ) mg/L, (6.51 ±1.12)ng/L, (23.56 ±4.16)ng/L, (5.25 ±1.21) ng/L, those in control group were (12.20 ±3.41)mg/L, (15.63 ±
4.11) ng/L, (36.16 ±7.37) ng/L, (12.63 ±4.12) ng/L.The differences of these parameters between the two groups were signifi-cant (P<0.001).Observation group patients had a lower rate of recurrence 1 year after surgery than that of control group patients (12.00%vs 37.93%, P=0.029). Conclusion In the treatment of adult laryngeal papilloma , carbon dioxide laser can achieve a better minimally invasive and lower postoperative recurrence when compare to tumor forceps treatment .

Objective To conduct the comparative study of the measurement of breast volume by MRI imaging and Archimedes method in immediate implant breast reconstruction.Methods A total of 44 patients who were diagnosed as breast cancer and undergone immediate implant breast reconstruction were selected from March 2011 to March 2013.22 cases were guided to select suitable breast implants by measuring the breast volume and correlative radial line based on MRI imaging.Control group containing 22 cases were guided to select breast implants by traditional Archimedes method and clinical experience.3 breast surgeons and plastic surgeons who did not participate in the operation were selected to judge the postoperative breast shape.Data of two groups were analyzed by using chisquare test.Results All the patients recovered smoothly after operation without infection,and the wound healed well.The breast shape was evaluated.21 cases (95.5 ％) were good in test group and 1 case (4.5％) was poor;16 cases (72.7％) were good in control group and 6 cases (27.3) were poor.The comparison between the test group and control group had statistical significance (P＜0.05).Conclusions The method to measure the breast volume and correlative radial line based on MRI imaging has important values for selecting breast implants in immediate implant breast reconstruction.It could be extensively used in clinical practice.