Objective:To investigate and analyze the relationship between genotype and phenotype in patients with early-onset high myopia (eoHM) associated with hereditary eye diseases.Methods:A family-based study was conducted among 30 families diagnosed with eoHM at Department of Ophthalmology of People's Hospital of Ningxia Hui Autonomous Region from January 2022 to June 2023. Seven families (23.3%, 7/30), all probands, and their 14 parents were included. These seven families were unrelated. Detailed patient and family histories were collected. All participants underwent comprehensive ophthalmic examinations, including best-corrected visual acuity, color vision testing, fundus color photography, optical coherence tomography, fluorescein fundus angiography, and fundus autofluorescence imaging. Full-field electroretinography was performed in four cases. Peripheral venous blood samples were collected from patients and their parents for whole-genome DNA extraction and whole-exome sequencing. Potential pathogenic variants were identified, and their pathogenicity was analyzed and confirmed by Sanger sequencing. The pathogenicity of newly discovered gene variants was evaluated according to the guidelines of the American College of Medical Genetics and Genomics (ACMG). Literature on previously reported eoHM associated with hereditary eye diseases was reviewed to analyze the relationship between variant genes and clinical phenotypes.Results:Among the seven families, three exhibited X-linked inheritance, two showed autosomal recessive inheritance, and two demonstrated autosomal dominant inheritance. All the patients were male. Among the seven patients, one case each was identified with congenital stationary night blindness (CSNB), Bornholm eye disease, X-linked retinitis pigmentosa (XL-RP), cone-rod dystrophy, Knobloch syndrome, familial exudative vitreoretinopathy (FEVR), and Stickler syndrome. Genetic testing revealed nine gene variants highly correlated with the observed phenotypes. The genetic testing results revealed that all patients were found to carry nine gene variants highly associated with the phenotype, including: a hemizygous missense variant NYX c.647A>T (p.N216I) (M1), an OPN1LW LIAVA haplotype variant (M2), a hemizygous frameshift variant RPGR c.3096_3097del (p.E1033RfsTer45) (M3), compound heterozygous variants TTLL5 c.1588_1589del (p.L531EfsTer24) and c.850G>C (p.D284H) (M4, M5), compound heterozygous variants COL18A1 c.2118dup (p.G707RfsTer23) and c.3523_3524del (p.L1175VfsTer72) (M6, M7), a heterozygous missense mutation FZD4 c.1499C>T (p.T500I) (M8), and a heterozygous frameshift variant COL11A2 c.966dup (p.T323HfsTer19) (M9). Among them, M2, M4, M5, M8 and M9 were newly discovered mutation sites, and M1, M3, M6 and M7 were known mutation sites. According to the classification standards and guidelines of genetic variation issued by ACMG, M2, M3, M4, M6, M7, and M9 were judged to be pathogenic variants, while M1, M5, and M8 were of unknown clinical significance. Through literature review, it was found that eoHM was more common among the clinical phenotypes of 4 types of hereditary retinal diseases, including CSNB, Stickler syndrome, FEVR and XL-RP. Conclusion:eoHM is intricately associated with inherited eye diseases and may serve as the earliest indicator of such conditions.

Objective:To investigate and analyze the relationship between genotype and phenotype in patients with early-onset high myopia (eoHM) associated with hereditary eye diseases.Methods:A family-based study was conducted among 30 families diagnosed with eoHM at Department of Ophthalmology of People's Hospital of Ningxia Hui Autonomous Region from January 2022 to June 2023. Seven families (23.3%, 7/30), all probands, and their 14 parents were included. These seven families were unrelated. Detailed patient and family histories were collected. All participants underwent comprehensive ophthalmic examinations, including best-corrected visual acuity, color vision testing, fundus color photography, optical coherence tomography, fluorescein fundus angiography, and fundus autofluorescence imaging. Full-field electroretinography was performed in four cases. Peripheral venous blood samples were collected from patients and their parents for whole-genome DNA extraction and whole-exome sequencing. Potential pathogenic variants were identified, and their pathogenicity was analyzed and confirmed by Sanger sequencing. The pathogenicity of newly discovered gene variants was evaluated according to the guidelines of the American College of Medical Genetics and Genomics (ACMG). Literature on previously reported eoHM associated with hereditary eye diseases was reviewed to analyze the relationship between variant genes and clinical phenotypes.Results:Among the seven families, three exhibited X-linked inheritance, two showed autosomal recessive inheritance, and two demonstrated autosomal dominant inheritance. All the patients were male. Among the seven patients, one case each was identified with congenital stationary night blindness (CSNB), Bornholm eye disease, X-linked retinitis pigmentosa (XL-RP), cone-rod dystrophy, Knobloch syndrome, familial exudative vitreoretinopathy (FEVR), and Stickler syndrome. Genetic testing revealed nine gene variants highly correlated with the observed phenotypes. The genetic testing results revealed that all patients were found to carry nine gene variants highly associated with the phenotype, including: a hemizygous missense variant NYX c.647A>T (p.N216I) (M1), an OPN1LW LIAVA haplotype variant (M2), a hemizygous frameshift variant RPGR c.3096_3097del (p.E1033RfsTer45) (M3), compound heterozygous variants TTLL5 c.1588_1589del (p.L531EfsTer24) and c.850G>C (p.D284H) (M4, M5), compound heterozygous variants COL18A1 c.2118dup (p.G707RfsTer23) and c.3523_3524del (p.L1175VfsTer72) (M6, M7), a heterozygous missense mutation FZD4 c.1499C>T (p.T500I) (M8), and a heterozygous frameshift variant COL11A2 c.966dup (p.T323HfsTer19) (M9). Among them, M2, M4, M5, M8 and M9 were newly discovered mutation sites, and M1, M3, M6 and M7 were known mutation sites. According to the classification standards and guidelines of genetic variation issued by ACMG, M2, M3, M4, M6, M7, and M9 were judged to be pathogenic variants, while M1, M5, and M8 were of unknown clinical significance. Through literature review, it was found that eoHM was more common among the clinical phenotypes of 4 types of hereditary retinal diseases, including CSNB, Stickler syndrome, FEVR and XL-RP. Conclusion:eoHM is intricately associated with inherited eye diseases and may serve as the earliest indicator of such conditions.

Whether it is the long-term health maintenance of the space station in orbit,or the research on aerospace medical issues,multiple physiological indicators reflecting human physiological functions need to be monitored.With the development of wearable physiological detection technology,the requirements for comfort,low load,and human-machine friendly during the continuous collection and detection of physiological information are becoming increasingly high.This paper designs a set of wearable multi-physiological parameter detection system based on flexible electrodes using fabric electrodes as signal sensors.The system includes hardware such as intelligent clothing and physiological signal detection modules,as well as physiological signal display and storage software,which achieves synchronous detection of multiple physiological signals such as ECG,respiration,and EMG.The design ideas,implementation method,key technologies,and results for collecting,detecting,and processing physiological signals under non-steady state conditions are introduced in this paper.The experimental results show that the system can reliably detect physiological signals such as ECG,respiration,and EMG during motion in flight.

The design of wall filter in ultrasonic microvascular imaging directly affects the resolution of blood flow imaging. We compared the traditional polynomial regression wall filter algorithm and two algorithms based on singular value decomposition (SVD), Full-SVD algorithm and RS-RSVD algorithm (random sampling based on random singular value decomposition) through experiments with simulated data and human renal entity data imaging experiments. The experimental results showed that the filtering effect of the traditional polynomial regression wall filter algorithm was limited, however, Full-SVD algorithm and RS-RSVD algorithm could better extract the micro blood flow signal from the tissue or noise signal. When RS-RSVD algorithm was randomly divided into 16 blocks, the signal-to-noise ratio was the same as that of Full-SVD algorithm, reduces the contrast-to-noise ratio by 2.05 dB, and reduces the execution time by 90.41%. RS-RSVD algorithm can improve the operation efficiency and is more conducive to the real-time imaging of high frame rate ultrasound microvessels.
Algorithms ; Humans ; Microvessels/diagnostic imaging* ; Signal-To-Noise Ratio ; Ultrasonics ; Ultrasonography/methods*

Objective:To establish risk stratifying criteria for acute rejection(AR)after kidney transplantation(KT)through analyzing the preoperative risk factors of KT recipients from deceased donor(DD).Methods:A retrospective study is conducted for 1 382 KT recipients of DD kidney at First Affiliated Hospital of Xi'an Jiaotong University from January 2015 to December 2020.According to the presence or absence of AR within 1 year post-KT, they are divided into two groups of acute rejection(group AR, 115 cases)and non-rejection(group non-AR, 1 267 cases). Clinical data of two groups are examined by univariate and multivariate analyses for determining the risk factors of AR and a scoring standard is established on the basis of regression coefficients.They are divided into three groups of low-risk(907 cases), middle-risk(450 cases)and high-risk(25 cases)according to the scoring results and the incidence of AR is compared among different scoring groups.Results:Univariate analysis indicates that donor age(AR, 793 cases; non-AR, 474 cases, P=0.033), age difference between recipients and donors≥25 years(AR, 63 cases; non-AR; 315 cases; P<0.001), recipient panel-reactive antibodies(PRA)plus donor-specific antibody(DSA)(+ )(AR, 96 cases; non-AR, 1 169 cases, P=0.002), donor kidney cold ischemic time≥12h(AR, 81 cases; non-AR, 1 064 cases, P<0.001), donor/recipient HLA mismatch≥3(AR, 70 cases; non-AR, 984 cases, P<0.001)and expanded criteria donor(ECD)(AR, 50 cases; non-AR, 790 cases, P<0.001)are high risk factors for AR(all P<0.05). Variables with statistical significance during univariate analysis are included for multivariate analysis.Five variables are finally determined, including age difference between recipients and donors≥25 years(β=0.61, P=0.006), PRA+ DSA(+ )(β=0.74, P=0.008), donor kidney cold ischemic time≥12 h(β=0.74, P<0.001), HLA mismatch(≥3)(β=0.81, P<0.001)and ECD(β=0.82, P<0.001). Score for each risk factor is calculated according to the relevant regression coefficient and scoring standard formulate on the basis of the above five risk factors with a total score of 36.With an overall incidence of AR at 8.32%(115/1 382), the incidence of AR is 4.3%, 14.7% and 40.0% in low/middle/high-risk group and the difference is statistically significant.It hints that immune risk stratification can effectively determine the risk of postoperative AR for KT recipients.The incidence of AR is significantly higher in middle/high-risk group than that in low-risk group ( P<0.001). Conclusions:For recipients with middle/high immune risk, intensity and dose of immunosuppressants should be appropriately boosted during preoperative induction and maintenance period.And the occurrences of AR and infection should be dynamically monitored.

Objective:To evaluate the intestinal function in rats with exertional heat stroke (EHS) and explore the protective role of Ruifuping pectin (RFP) against heat related intestinal mucosal injury.Methods:One hundred and twenty healthy special pathogen free (SPF) male Sprague-Dawley (SD) rats were randomly divided into normothermic control group, EHS model group, hyperthermic plus drinking water group (H 2O+EHS group) and hyperthermic plus pectin group (RFP+EHS group) with 30 rats in each group. The rats in the H 2O+EHS group and RFP+EHS group were given water 20 mL/kg or RFP 20 mL/kg orally for 5 days during adaptive training period. After 1 week, the temperature control range was adjusted to (37±1)℃ using the temperature control treadmill, and the rat model of EHS was reproduced by one-time high temperature exhaustive exercise. No rehydration intervention was given during the training adaptation period in the EHS model group. The rats in the normothermic control group were maintained to room temperature (25±2)℃ and humidity (55±5)% without other treatment. Behavior tests including withdraw response, righting, and muscle strength were performed immediately after onset of EHS. Blood of inferior vena cava was collected, and the serum inflammatory cytokines [tumor necrosis factor-α (TNF-α) and interleukins (IL-6, IL-1β, IL-10)] and activity of diamine oxidase (DAO) were detected by enzyme linked immunosorbent assay (ELISA). The intestinal mucosa was collected, after hematoxylin-eosin (HE) staining, and Chiu score was performed to assess EHS induced pathological changes under light microscope. Results:The rats in the EHS model group had behavioral, inflammatory and pathological changes, such as delayed withdraw response and righting, decreased forelimb pulling, increased inflammatory index, and obvious intestinal mucosal injury, which indicated that the reproduction of the EHS model was successful. There was no significant difference in above parameters between the H 2O+EHS group and the EHS model group except that the inflammatory index in the RFP+EHS group was improved. Compared with the EHS model group, the withdraw reflex to pain and righting after RFP pretreatment in the RFP+EHS group were significantly improved (righting score: 1.4±0.2 vs. 0.3±0.2, withdraw reflex to pain score: 1.0±0.1 vs. 0.2±0.1, both P < 0.05), the muscle strength was significantly increased (N: 13.0±0.5 vs. 8.2±0.6, P < 0.01). The levels of pro-inflammatory factors in the RFP+EHS group were significantly lower than those in the EHS model group [TNF-α (ng/L): 67.5±9.2 vs. 194.3±13.7, IL-6 (ng/L): 360.0±54.1 vs. 981.2±84.4, IL-1β (ng/L): 33.7±9.0 vs. 88.7±6.1, all P < 0.01], while the level of anti-inflammatory factor IL-10 was higher than that in the EHS model group (ng/L: 208.7±10.5 vs. 103.7±7.0, P < 0.01). The degree of intestinal mucosal injury in the RFP+EHS group was less severe than that in the EHS model group, and the Chiu score and DAO were significantly lower than those in the EHS model group [Chiu score: 1.5±0.2 vs. 3.8±0.0, DAO (U/L): 83.7±6.7 vs. 128.7±10.5, both P < 0.05]. Conclusions:High temperature training can damage the intestinal barrier function, and induce endotoxemia and systemic inflammatory response syndrome (SIRS) in rats. Oral prophylactic RFP can protect the intestinal barrier function, alleviate SIRS, and promote the recovery of basic nerve reflex and muscle strength after the occurrence of EHS in rats.

Objective? To explore the cognition and attitude towards palliative care of family members among elderly chronic diseases patients and to analyze its influencing factors. Methods? From October 2017 to April 2018, we selected 180 family members of elderly chronic diseases patients at Peking Union Medical College Hospital as subjects by convenience sampling. All of them were investigated with the self-designed cognition and attitude towards palliative care questionnaire. The simple correlation was used to analyze the influencing factors of cognition and attitude towards palliative care of family members among elderly chronic diseases patients. Results? A total of 166 valid questionnaires were collected. There were 85 (51.2%) family members of elderly chronic diseases patients understanding palliative care, 133 (80.1%) of them agreeing with implementing palliative care. The reasons of supporting palliative care included that relieving the pain on the deathbed, patients had the right to choose, long-term torment of disease. There were statistical differences in the cognition and attitude towards palliative care among family members with different ages, education levels, occupations, incomes and patients' ages. Conclusions? Family members of elderly chronic diseases patients have insufficient understanding of palliative care with a high approval rate. The higher the approval rates, education levels and ages of family members are, they agree more with palliative care.

Gastric cancer is the first in morbidity and mortality among cancers in China. The presence of peritoneal dissemination is the most common cause of recurrence after radical surgery, and has become a pivotal to the curative resection. Whether intraperitoneal chemotherapy can prevent peritoneal dissemination,lymph node metastasis, eradicate invisible seeding tumor cells, reduce peritoneal metastasis, improve survival and quality of life is always under investigation. This review focus on the theory, clinical applications and problems of intraperitoneal chemotherapy for gastric cancer.

Breast cancer is a systemic disease, only through multidisciplinary treatment including surgery, radiotherapy, chemotherapy, endocrine, can we enhance its effectiveness. In recent years, neoadjuvant chemotherapy for breast cancer has aroused great interest in tumor academia. We hope that this therapy can not only improve breast conservation rate, but also extend the overall survival through a series of clinical studies. This review presents the research progress of neoadjuvant chemotherapy for breast cancer.

OBJECTIVE To explore the possibility of no recurrent laryngeal nerve injury in thyroid surgery. METHODS A total of 659 consecutive patients with thyroid disease undergoing thyroidectomy byotolaryngologists from March 2001 to March 2005 were retrospectively analyzed. The operative mode and incidence of complications, particularly postoperative RLN palsy, hypoparathyroidism and postoperative recurrence were evaluated. Routine dissection and identification of the RLN was performed during all operative procedures and parathyroid with the blood supply was preserved. RESULTS Unilateral total thyroidectomy with contralateral partial lobectomy was performed in 376 cases, unilateral total thyroidectomy with isthmectomy in 87, bilateral subtotal thyroidectomy with the remnant left at the upper pole in 76, total thyroidectomy in 73. The operations on 47 patients with substernal goiter have been successfully performed via cervical collar incision. None of our patients incurred unilateral or bilateral vocal cord paralysis and permanent hypocalcaemia. Of these patients, the incidence of temporary postoperative hypocalcemia was 1.67 %(11/659). Postoperative hemorrhage requiring reoperation occurred in 4 cases (0.60 %) and 5 patients developed wound haematomas (0.76 %).Postoperative hypothyroidism was found in 3 patients(0.45 %).The incidence of postoperative recurrence was 0.15 %(1/659). No patients had incision infection. CONCLUSION With knowledge of the anatomy of the RLN and routinely complete identification the RLN in performing capsular dissection high on the surface of the thyroid gland, RLN injury may be avoided in thyroid surgery. [