AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.

AIM: To delineate the specific mutation responsible for retinitis pigmentosa(RP)in a Yi pedigree, and to analyze the correlation of RHO gene mutation with clinical phenotype.METHODS:A comprehensive clinical evaluation was conducted on the proband diagnosed with RP and other familial members, complemented by a thorough ophthalmic examination. Peripheral blood samples were obtained from the proband and familial members, from which genomic DNA was extracte. Subsequent whole exome sequencing(WES)was employed to identify the variant genes in the proband. The identified variant gene was validated through Sanger sequencing, then an in-depth analysis of the mutation genes was carried out using genetic databases to ascertain the pathogenic mutation sites. Furthermore, an exhaustive analysis was performed to delineate the genotype and phenotype characteristics.RESULTS:The RP pedigree encompasses 5 generations with 42 members, including 19 males and 23 females. A total of 13 cases of RP were identified, consisting of 4 males and 9 females, which conforms to the autosomal dominant inheritance pattern. The clinical features of this family include an early onset age, rapid progression, and a more severe condition. The patients were found to have night blindness around 6 years old, representing the earliest reported case of night blindness in RP families. The retina was manifested by progressive osteocytoid pigmentation of the fundus, a reduced visual field, and significantly decreased or even vanished a and b amplitudes of ERG. The combined results of WES and Sanger sequencing indicated that the proband had a heterozygous missense mutation of the RHO gene c.1040C>T:p.P347L, where the 1 040 base C of cDNA was replaced by T, causing codon 347 to encode leucine instead of proline. Interestingly, this mutation has not been reported in the Chinese population.CONCLUSION:This study confirmed that the mutant gene of RP in a Yi nationality pedigree was RHO(c.1040C>T). This variant leads to the change of codon 347 from encoding proline to encoding leucine, resulting in a severe clinical phenotype among family members. This study provides a certain molecular, clinical, and genetic basis for genetic counseling and gene diagnosis of RHO.

"State-target-cause-result"is a new clinical theory combining macroscopic and microscopic syndrome differentiation based on the holistic view of traditional Chinese medicine combined with Western medical research.The"inflammation-cancer transformation"of chronic pancreatitis is a complex pathological process that is associated with the interaction between the pancreas and various pathological factors and multiple objects,involving the imbalance of multiple homeostasis.The microscopic process of"inflammation-cancer transformation"in chronic pancreatitis is the"target,"whereas various factors that could induce its occurrence under chronic inflammatory conditions are the"state."The"inflammation-cancer transformation"of chronic pancreatitis is summarized as yin and yang imbalance,qi movement disorder,endogenous dampness,heat,blood stasis,and turbid phlegm stagnation,unresolved congestion resulting in deficiency caused by stagnation,intermingled deficiency and excess,and internal cancer toxin generation.This paper elucidates the pathogenesis and intervention strategies of the"inflammation-cancer transformation"of chronic pancreatitis from a macro perspective of"state,"focusing on reducing the impact of"state"imbalance on the"target"to establish a balanced pancreas-immune-microbiota state.The aim is to broaden the theory for exploring the mechanism and drug development related to chronic pancreatitis"inflammation-cancer transformation"in both traditional Chinese and Western medicine.

Objective To observe the cage subsidence after oblique lateral interbody fusion(OLIF)for lumbar spondylo-sis,summarize the characteristics of the cage subsidence,analyze causes,and propose preventive measures.Methods The data of 144 patients of lumbar spine lesions admitted to our hospital from October 2015 to December 2018 were retrospectively ana-lyzed.There were 43 males and 101 females,and the age ranged from 20 to 81 years old,with an average of(60.90±10.06)years old.Disease types:17 patients of lumbar intervertebral disc degenerative disease,12 patients of giant lumbar disc hernia-tion,5 patients of discogenic low back pain,33 patients of lumbar spinal stenosis,26 patients of lumbar degenerative spondy-lolisthesis,28 patients of lumbar spondylolisthesis with spondylolisthesis,11 patients of adjacent vertebral disease after lumbar internal fixation,7 patients of primary spondylitis in the inflammatory outcome stage,and 5 patients of lumbar degenerative scoliosis.Preoperative dual-energy X-ray bone mineral density examination showed 57 patients of osteopenia or osteoporosis,and 87 patients of normal bone density.The number of fusion segments:124 patients of single-segment,11 patients of two-seg-ment,8 patients of three-segment,four-segment 1 patient.There were 40 patients treated by stand-alone OLIF,and 104 patients by OLIF combined with posterior pedicle screw.Observed the occurrence of fusion cage settlement after operation,conducted monofactor analysis on possible risk factors,and observed the influence of fusion cage settlement on clinical results.Results All operations were successfully completed,the median operation time was 99 min,and the median intraoperative blood loss was 106 ml.Intraoperative endplate injury occurred in 30 patients and vertebral fracture occurred in 5 patients.The mean follow-up was(14.57±7.14)months from 6 to 30 months.During the follow-up,except for the patients of primary lumbar interstitial in-flammation and some patients of lumbar spondylolisthesis with spondylolisthesis,the others all had different degrees of cage subsidence.Cage subsidence classification:119 patients were normal subsidence,and 25 patients were abnormal subsidence(23 patients were grade Ⅰ,and 2 patients were grade Ⅱ).There was no loosening or rupture of the pedicle screw system.The height of the intervertebral space recovered from the preoperative average(9.48±1.84)mm to the postoperative average(12.65±2.03)mm,and the average(10.51±1.81)mm at the last follow-up.There were statistical differences between postop-erative and preoperative,and between the last follow-up and postoperative.The interbody fusion rate was 94.4％.The low back pain VAS decreased from the preoperative average(6.55±2.2 9)to the last follow-up(1.40±0.82),and there was statistically significant different.The leg pain VAS decreased from the preoperative average(4.72±1.49)to the final follow-up(0.60± 0.03),and the difference was statistically significant(t=9.13,P＜0.000 1).The ODI index recovered from the preoperative av-erage(38.50±6.98)％to the latest follow-up(11.30±3.27)％,and there was statistically significant different.The complication rate was 31.3％(45/144),and the reoperation rate was 9.72％(14/144).Among them,8 patients were reoperated due to fusion cage subsidence or displacement,accounting for 57.14％(8/14)of reoperation.The fusion cage subsidence in this group had obvious characteristics.The monofactor analysis showed that the number of abnormal subsidence patients in the osteopenia or osteoporosis group,Stand-alone OLIF group,2 or more segments fusion group,and endplate injury group was higher than that in the normal bone mass group,OLIF combined with pedicle screw fixation group,single segment fusion group,and no endplate injury group,and the comparison had statistical differences.Conclusion Cage subsidence is a common phenomenon after 0-LIF surgery.Preoperative osteopenia or osteoporosis,Stand-alone OLIF,2 or more segments of fusion and intraoperative end-plate injury may be important factors for postoperative fusion cage subsidence.Although there is no significant correlation be-tween the degree of cage subsidence and clinical symptoms,there is a risk of cage migration,and prevention needs to be strengthened to reduce serious complications caused by fusion of cage subsidence,including reoperation.

The growth of three plague phages from Qinghai Plateau in two Yersinia pestis strains(plague vaccine strains EV76 and 614F)and four non-Yersinia pestis strains(Yersinia pseudotuberculosis PTB3,PTB5,Escherichia coli V517,and Yersinia enterocolitica 52302-2)were detected through a micromethod based on the OmniLogTM microbial identification system and by the drop method,to provide a scientific basis for future ecological studies and classification based on the host range.For plague vaccine strains EV76 and 614F,successful phage infection and subsequent phage growth were observed in the host bacte-rium.Diminished bacterial growth and respiration and a concomitant decrease in color were observed with the OmniLogTM mi-crobial identification system at 33 ℃ for 48 h.Yersinia pseudotuberculosis PTB5 was sensitive to Yersinia pestis phage 476,but Yersinia pseudotuberculosis PST5 was insensitive to phage 087 and 072204.Three strains of non-Yersinia pestis(Yersinia pseudotuberculosis PTB3,Escherichia coli V517,and Yersinia enterocolitica 52302-2)were insensitive to Yersinia pestis pha-ges 087,072204,and 476 showed similar growth curves.The growth of phages 476 and 087,as determined with the drop method,in two Yersinia pestis strains(plague vaccine strains EV76 and 614F)and four non-Yersinia pestis strains(Yersinia pseudotuberculosis PTB3,Escherichia coli V517,and Yersin-ia enterocolitica 52302-2)showed the same results at 37 ℃,on the basis of comparisons with the OmniLogTM microbial i-dentification system;in contrast,phages 072204 did not show plaques on solid medium at 37 ℃ with plague vaccine strains EV76 and 614F.Determination based on the OmniLogTM detection system can be used as an alternative to the traditional determination of the host range,thus providing favorable application val-ue for determining the interaction between the phage and host bacteria.

Objective:To explore the application value of different nutritional screening tools in the evaluation of preoperative malnutrition assessment of Crohn's patients. Methods:Using the convenient sampling method, a retrospective analysis was conducted on CD patients who underwent elective surgery at the general surgery department of General Hospital of Eastern Theater Command from January 2021 to March 2022. The preoperative nutritional status of the patients was understood. Taking the consensus on malnutrition assessment diagnosis standards (GLIM) as the gold standard. The correlation, difference and diagnostic efficacy of 3 nutritional risk screening tools were compared. Results:A total of 212 patients were included. Using GLIM as the diagnostic standard, 131 patients (61.79％) had malnutrition. The incidence of malnutrition risk was 66.03％, 85.38％ and 55.66％ using NRS 2002 score, NS IBD score and PNI score, respectively. The sensitivities of the above three scores in the preoperative nutritional screening of IBD patients were 81.46％, 85.48％, 79.63％, respectively; the specificity were 62.36％, 54.71％, 57.12％, respectively; and the areas under the curve were 0.749, 0.763, 0.831, respectively. In the evaluation of diagnostic efficacy, NS IBD score had the highest sensitivity, and NRS 2002 had the best specificity. Conclusion:For patients with Crohn's disease undergoing elective surgery, the three nutritional risk screening tools can provide a basis for malnutrition risk screening. The items of PNI score are objective, concise, and convenient. As for the evaluation of diagnostic efficacy, the NS IBD score has the highest sensitivity and the NRS 2002 has the best specificity.

Objective:To investigate the status quo of training and domestic use of 707 clinical nutrition support specialty nurses from 21 provinces,cities,and autonomous regions in China. And to analyze their influencing factors and provide reference for improving the training system of clinical nutrition support specialty nurses,selection and development of specialist nurses in clinical nutrition support. Methods:From October to November 2023,a cross-sectional survey was conducted on 707 clinical nutrition support specialty nurses from 21 provinces,cities,and autonomous regions across China was conducted using a convenience sampling method based on a questionnaire about the training and home use of clinical nutrition support nurses. Univariate and multiple linear regression analysis was used to examine the use status and application of clinical nutrition support specialty nurses in five aspects:clinical nursing practice,nursing education,nursing management,coordination,nursing research and consultation. Results:The use of specialist clinical nutrition support nurses is not ideal,with 75.67％ of specialist nurses scoring less than 208 points (i.e. less than 80％ of the total score). Among the use of different dimensions,the clinical nursing practice dimension received the highest score (54.17±10.26),followed by the nursing education dimension (36.98±8.00). The results of multiple linear regression analysis show that hospital level and professional title are independent influencing factors influencing the use and development of specialist nurses. Conclusion:There is a need to further improve the utilisation of clinical nutrition support nurses. It is recommended that links and cooperation between hospitals at all levels,communities,and families be strengthened. For specialist nurses with higher professional titles,encourage them to fully play their roles,strengthen training in weak areas,continuously optimize the professional ability of clinical nutrition support nursing teams,comprehensively improve the quality of clinical nutrition support specialist nursing,and promote their high-level development.

Objective:To investigate the relationship between phase angle (PA) and nutritional status,duration of mechanical ventilation,length of intensive care unit (ICU) stay,and clinical outcomes in patients with severe acute pancreatitis (SAP) complicated with ARDS. Methods:The clinical data of patients with SAP complicated with ARDS admitted to the surgical ICU,Jinling hospital,medical school of Nanjing University,from July 2023 to March 2024 were retrospectively collected. Patients are divided into low-PA group and normal-PA group based on phase angle. The correlation analysis between phase angle,nutritional status,and clinical outcomes,and evaluation of risk factors for mortality in patients with SAP combined with ARDS were performed. Result:A total of 83 patients with SAP complicated with ARDS were included in this study. PA was negatively correlated with nutritional risk scores (rs=-0.352,P=0.001),duration of mechanical ventilation (rp=-0.475,P<0.001),length of ICU stay (rp=-0.313,P=0.004),and mortality (rs=-0.371,P=0.001). Univariate analysis showed statistically significant differences in age,PA value,and duration of mechanical ventilation for predicting mortality (P<0.05);Multivariate analysis showed that the PA value was an independent risk factor for mortality (P<0.05). Conclusion:PA is significantly correlated with clinical outcomes,such as nutritional risk,duration of mechanical ventilation,length of ICU stay and mortality,and may be a promising biomarker in future.

Objective:To summarize the best evidence on case management of patients with home enteral nutrition.Methods:Relevant evidence on the case management of home enteral nutrition patients was retrieved by literature search,and the evidence was extracted and summarized for the literature that met the quality requirements.Result:A total of 10 literatures were included,including 1 guideline,3 expert consensus,2 industry standards,1 systematic review and 3 randomized controlled trials.By establishment of archives,policy management,establishment of multidisciplinary teams,overall evaluation of home enteral nutrition,as well as implementation management,a total of 33 home enteral nutrition case management was summarized from 6 aspects including health education and follow-up,etc.Conclusion:All the summarized relevant evidence about case filing and management of home enteral nutrition patients can be applied in clinical practice to promote the standardized management of home enteral nutrition.

Objective To understand the prevalence characteristics of influenza and changes of influenza virus strains,and provide reference for the prevention and control of influenza in the province.Methods Surveillance da-ta about influenza in Hunan Province from 2014 to 2023 were exported from China Influenza Surveillance Informa-tion System.Differences in the percentage of influenza-like illness(ILI)cases(percentage of influenza-like cases[ILI％]in outpatient and emergency department visits)among different years and different populations,as well as the positive rate of influenza virus in ILI specimens were compared.Results From 2014 to 2023,over 2.65 million cases of ILI were reported,with an ILI％of 4.70％.ILI％among different years presented statistically significant differences(P＜0.001).People aged 0-14 years old were the main population with ILI,accounting for 82.90％.The positive rate of influenza virus in ILI specimens was 14.14％,the positive rate of influenza virus among diffe-rent years and age groups were both significantly different(both P＜0.001).The main prevalent influenza strains from 2014 to 2023 included types A(H1N1),A(H3N2),B(Victoria),and B(Yamagata),alternating among di-fferent years.However,type B(Yamagata)strains were not detected from 2020 to 2023.There were basically two influenza prevalence seasons every year,namely winter-spring and summer.Conclusion People＜15 years old are the main population of influenza,and the prevalence peaks are in winter-spring and summer.From 2021 to 2023,the prevalence alternates mainly among 3 types:A(H1N1),A(H3N2),and B(Victoria).