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.

Objective: To analyze the influencing factors for anterior tibial artery atherosclerosis among patients with hyperuricemia, so as to provide insights into the prevention of anterior tibial artery atherosclerosis. Methods: Patients aged 18 years and older with hyperuricemia in Dazhou Integrated TCM & Western Medicine Hospital were enrolled as research subjects from 2020 to 2023. Demographic information and blood biochemistry indicators were collected through electronic medical records. Anterior tibial artery atherosclerosis was evaluated by color Doppler ultrasound. Factors affecting anterior tibial artery atherosclerosis among patients with hyperuricemia were analyzed by a multivariable logistic regression model. Results: A total of 1 105 patients with hyperuricemia were surveyed, including 862 males (78.01%) and 243 females (21.99%). There were 918 cases (83.08%) at the ages of 60 years and older, and 457 cases (41.36%) with a course of disease at 10 years and longer. The median level of blood uric acid was 480.79 (interquartile range, 98.28) μmol/L. There were 314 cases (28.42%) with anterior tibial artery atherosclerosis. Multivariable logistic regression analysis showed that body mass index (≥24.0 kg/m2, OR=1.597, 95%CI: 1.185-2.151), long-term smoking history (yes, OR=1.709, 95%CI: 1.153-2.534), diabetes mellitus (yes, OR=1.517, 95%CI: 1.162-1.981), serum uric acid (≥480.79 μmol/L, OR=1.667, 95%CI: 1.131-2.457), serum creatinine (≥97 μmol/L, OR=1.685, 95%CI: 1.155-2.460), fasting blood glucose (≥6.1 mmol/L, OR=1.528, 95%CI: 1.106-2.112), fibrinogen (>4 g/L, OR=1.589, 95%CI: 1.091-2.315) and triglycerides (≥1.7 mmol/L, OR=1.879, 95%CI: 1.226-2.881) were influencing factors for anterior tibial artery atherosclerosis among patients with hyperuricemia. Conclusion Anterior tibial artery atherosclerosis among patients with hyperuricemia is associated with long-term smoking, diabetes mellitus, serum uric acid, serum creatinine, fasting blood glucose, fibrinogen and triglycerides high level.

Objective:To explore the value of color Doppler ultrasound scanner in screening peripheral artery atherosclerosis(AS)of undergraduates on campus.Methods:From June 2020 to June 2022,a total of 300 college student volunteers were selected from Sichuan University of Arts and Sciences and Dazhou Vocational and Technical College,and they were divided into peripheral AS group(59 cases)and healthy control group(241 cases)according to the occurrence of peripheral AS.The general data and blood flow parameters of the two groups were compared,and the risk factors of peripheral AS of undergraduates on campus were further analyzed.Results:The differences of the gender,hyperglycemia rate,hypertension rate,smoking history rate,triglycerides(TG),total cholesterol(TC)and high-density lipoprotein cholesterol(HDL-C)between the AS group and the healthy control group were not statistically significant(P>0.05).The differences of age,obesity rate,hyperlipidemia rate and low-density lipoprotein cholesterol(LDL-C)between AS group and healthy control group were statistically significant(t=6.666,x2=4.256,5.292,t=4.515,P<0.05),respectively.The maximum blood flow velocity(Vmax)and minimum blood flow velocity(Vmin)of the AS group were lower than those of the healthy control group,with statistically significant differences(t=-3.753,-3.905,P<0.05).The resistance index(RI)of the AS group was higher than that of the healthy control group,with statistically significant differences(t=3.126,P<0.05).The dependent variable of the AS group was assigned a value of 1,and the healthy control group was assigned a value of 0.The factors with P<0.05 in univariate analysis were used as independent variables.The multiple factor binary logistic analysis showed that age and high LDL-C were risk factors for peripheral AS(OR=1.664,1.192,P<0.05),while high Vmax and high Vmin were protective factors for peripheral AS(OR=-0.102,-0.170,P<0.05),respectively.Conclusion:The higher the LDL-C level,the lower the Vmax and Vmin,are the higher risks of undergraduates who occur peripheral AS.The LDL-C and ultrasonic blood flow parameters(Vmax and Vmin)can be used to assist the diagnosis about whether occurs peripheral AS.

Objective:This study aims to discuss the diagnosis and treatment of pediatric appendicovesical fistula (AVF).Methods:A retrospective analysis was conducted on the clinical data of a pediatric patient with AVF admitted to our hospital in March 2023. The patient was a 6-year and 11-month old male who was hospitalized on March 21, 2023, due to difficulty urinating accompanied by diarrhea for two weeks. Computed tomography (CT) revealed bladder stones. The preoperative diagnosis was bladder stones. Transurethral cystoscopic lithotripsy with laser was performed under general anesthesia. Two weeks postoperatively, the child presented with recurrent symptoms of frequent urination, urinary pain, and diarrhea. Urine routine examination indicated a urinary tract infection. Over a month of antibiotic treatment was ineffective, and symptoms such as pneumaturia and fecaluria emerged, with exacerbation of diarrhea, suggesting the possibility of a fistulous tract between the child's intestine and bladder. Further bladder ultrasonography with contrast showed microbubbles of contrast medium leaking from the right posterior bladder wall into the intestinal tract. Enhanced magnetic resonance imaging (MRI) demonstrated a small, sharp tube-like shadow at the upper edge of the right posterior bladder, with a strip-like, significantly enhanced shadow within the lumen. The preoperative diagnosis was revised to appendicovesical fistula. During cystoscopic examination, a papillary-like protrusion was identified on the right lateral wall of the bladder, with no evident orificium fistulae or foreign body discharge noted at the protrusion site. Consequently, robot-assisted laparoscopic partial cystectomy, appendectomy, and lysis of adhesions were performed.Results:The patient was administered antibiotic for a 10-day course of anti-infection and a urinary catheter was maintained for 13 days. The patient recovered entirely and had been discharged after the removal of the urinary catheter. At an 11-month follow-up, there were no reported specific discomforts.Conclusions:Pediatric AVF is rare, and bladder contrast-enhanced ultrasonography and MRI are preferred for initial diagnostic evaluation. The diagnosis can be confirmed by specific clinical presentations such as intermittent pneumaturia and fecaluria, diarrhea with bladder stones. Laparoscopic surgery or robot-assisted laparoscopic surgery could be a feasible treatment option.

Objective To establish a method for measurement of ²³⁹Pu in fecal samples based on inductively coupled plasma-mass spectrometry (ICP-MS), and to provide a novel method for assessing the internal exposure of workers. Methods Fecal samples were collected from workers and labeled. The samples were pretreated with carbonization ashing and microwave digestion devices, purified on TEVA resin, and measured using ICP-MS. Results The detection limit of ²³⁹Pu in fecal samples based on ICP-MS was 1.91 × 10⁻⁴ Bq. Conclusion In the routine monitoring of class S substances characterized by a 5 μm aerodynamic diameter during 12 months, the committed effective dose corresponding to the detection limit is 0.17 mSv. This value meets the requirements of relevant national standards and ICP-MS can be used as a novel means for accurate evaluation of internal exposure for workers.

Objective:To investigate the clinical profile of primary bilateral macronodular adrenal hyperplasia(PBMAH) and sex difference.Methods:One hundred and forty cases of PBMAH were recruited in our center from 2014, and all patients were evaluated for hormone secretion, adrenal imaging, and metabolic parameters.Results:Overt Cushing′s syndrome accounted for 76.4% of PBMAH cohort and 47.9% were female. The overt group had higher serum cortisol and 24 h urinary free cortisol levels, lower adrenocorticotropic hormone, higher serum cortisol after low-dose dexamethasone suppression tests, larger total adrenal size, and a higher percentage of obesity, hypertension, diabetes mellitus, and hypokalemia than the subclinical group(all P<0.05). When compared with the male group, the female group had smaller adrenal size( P<0.001), lower HbA 1C( P=0.003), higher total cholesterol( P=0.005), and lower density lipoprotein-cholesterol levels( P=0.035). Further, 24 h urinary free cortisol in the male group was found to be positively correlated with diastolic blood pressure, fasting glucose, 2 h postprandial glucose after oral glucose tolerance test(OGTT), and HbA 1C after adjusted for age, body mass index, and onset duration, and was negatively correlated with body mass index and potassium levels. While 24 h urinary free cortisol in the female group was positively correlated only with diastolic blood pressure, fasting glucose, and 2 h postprandial glucose after OGTT(all P<0.05). During follow-up, 80.0% of patients achieved remission after unilateral adrenalectomy, with a recurrence rate of 17.9%. Conclusion:PBMAH related metabolic disorder is more pronounced in overt Cushing′s syndrome and males. Unilateral adrenalectomy as an effective treatment can benefit the majority of patients.

OBJECTIVE:To provide methodological reference for converting non-utility scale measurement results into health utility values. METHODS:Referring to domestic and foreign literatures,mapping methods and relevant models in health utility measurement were summarized. The effect of each model on probability mapping was introduced by taking the Medical outcomes study 12-item short form health survey measurement results converting into the EuroQol group's 5-domain utility values as exam-ple.RESULTS:The mapping methods can be adopted to obtain the health utility values by establishing the mapping relationship be-tween non-utility scale and utility scale. The common models included ordinary least square(OLS)model,censored least absolute deviations(CLAD)model,Tobit model,multinomial Logistic regression(MNL)model,Bayesian networks(BN)model,etc. OLS model was relatively simple with a good predictive validity,but it would be limited by the ceiling effect;Tobit model was not limit-ed by the ceiling or floor effect,when the error term satisfied the variance homogeneity and normality,prediction result of Tobit model was better than OLS model;CLAD model can be used for the situation of Tobit model unsuitable for non-variance homoge-neity of the error term;MNL model firstly determined a health state by regression analysis and then determined its utility value;the prediction validity of BN model was good and it didn't involved many assumptions and restrictions condition in econometrics, but the construction of BN model was greatly influenced by domain experts. Main methods for the calculation of health utility value with MNL or BN model were Monte Carlo simulation method,expected-utility method,most-likely probability methed,etc. We can carry out the model performance evaluation by using the R2,the adjusted R2,the mean error,the mean squared error and the mean absolute error,and then select the optimal model to calculate health utility values. CONCLUSIONS:Due to the advantages and disadvantages of each mapping model,it is necessary to select different mapping models based on the actual conditions.

Objective To evaluate the effect of sevoflurane on activities of Na+-K+-ATPase and Ca2+-ATPase in the hippocampus of diabetic rats.Methods SPF healthy male Wistar rats,aged 8 weeks,weighing 180-200 g,were fed a high-fat diet for 3 consecutive weeks and streptozotocin was intraperitoneal-ly injected to induce type 2 diabetes mellitus.Forty-four rats with diabetes mellitus were divided into 2 groups (n=22 each) using a random number table:diabetic group (D group) and sevoflurane group (S group).Another 22 healthy Wistar rats,aged 8 weeks,weighing 180-200 g,served as control group (C group).Oxygen was inhaled for 2 h in C and D groups,and 2.4％ sevoflurane was inhaled for 2 h in S group.Eight rats were sacrificed at 30 min after treatment,brains were removed and hippocampi were isolated for measurement of Na+-K+-ATPase and Ca2+-ATPase activities in hippocampal tissues by spectrophotometry.Ten rats were randomly selected at 1 day after treatment,and Morris water maze test was performed to assess the cognitive function.Four rats were randomly sacrificed,brains were removed and hippocampi were isolated for examination of the mitochondrial ultrastructure with a transmission electron microscope.Results Compared with group C,the escape latency was significantly prolonged,the number of crossing the original platform was reduced,the percentage of time of staying at the original platform quadrant was decreased,the activities of Na+-K+-ATPase and Ca2+-ATPase in hippocampi were decreased (P＜ 0.05),and mitochondrial swelling and decreased mitochondrial cristae were observed under the electron microscope in group D.Compared with group D,the escape latency was significantly prolonged,the number of crossing the original platform was reduced,the percentage of time of staying at the original platform quadrant was decreased,the activities of Na+-K+-ATPase and Ca2+-ATPase in hippocampi were decreased (P＜ 0.05),and mitochondrial swelling and vacuolization were found under the electron microscope in group S.Conclusion The mechanism by which sevoflurane aggravates cognitive dysfunction is related to deceasing activities of Na+-K+-ATPase and Ca2+-ATPase in the hippocampus of diabetic rats.

OBJECTIVETo explore the prevalence and the different risk factors for asthma in children between urban and rural areas in Fuzhou, Fujian province.

METHODThe epidemiological survey of asthma in 0-14 years old children was conducted from October 2009 to October 2010 between Fuzhou urban and rural areas in Fujian province. The investigation subjects were selected in urban and rural areas by phased stratified random cluster sampling. The 2010 third national epidemiological survey questionnaire of children with asthma was used for screening for possible patients. Diagnosis of asthma was confirmed by physical examination. The children with asthma were designated as the positive cases, while non asthmatic children who were age, gender, ethnic, and living environment matched with asthmatic patients were designated as negative control. Comparison of the prevalence of asthma in children between Fuzhou urban and rural areas was performed. The influencing factors of asthma were analyzed and screened by the regression equation model of two element Logistic regression.

RESULTTotally 12 235 questionnaires of children with asthma and allergic disease screening were issued and 11 738 questionnaire were sent back (6 221 were male and 5 517 were female). The return rate was 95.9% in urban Fuzhou; 648 children were diagnosed as asthma. The prevalence of asthma in male was 6.48% and female children was 4.44% (comparison of the prevalence of gender χ(2) = 23.267, P < 0.001) in urban areas . A total of 6 000 questionnaires of children with asthma and allergic disease screening were sent out and 5 860 were responded (male children 3 228, female children 2 632). The recovery rate was 97.7% in rural Fuzhou; 135 children with asthma was diagnosed. The prevalence of asthma in male was 2.73%and female children and was 1.79%. Adding protein supplement before 6 months (OR = 1.908, 95%CI:1.233-2.959), the use of antibiotics in the treatment of asthma (OR = 14.541, 95%CI:8.920-23.705), furniture materials (non wood) (OR = 2.432, 95%CI:1.563-3.785) were the main risk factors of children with asthma in urban. Adding protein supplement before 6 months(OR = 3.021, 95%CI:1.357-6.711), the use of antibiotics in the treatment of asthma(OR = 14.784, 95%CI:3.842-56.885), the use of coal as fuel (OR = 63.339, 95% CI: 7.993-501.943), domesticated livestock (OR = 13.659, 95% CI:1.342-139.068), the family smoking before and after birth (OR = 6.226, 95%CI:2.674-14.495) and chemical fiber pillow (OR = 3.638, 95%CI:1.241-10.666) were the main risk factors of children with asthma in rural areas.

CONCLUSIONThe prevalence of children with asthma in urban areas was higher than that in rural areas. The prevalence of asthma in male children was higher than in female children. Adding protein food supplement before 6 months, the use of antibiotics and non solid wood furniture material were the main risk factors in children with asthma in urban areas. Adding protein supplement before 6 months, the use of antibiotics, domesticated livestock, the use of coal as fuel and the family smoking before and after birth were the main risk factor of asthma in children in rural areas.

Adolescent ; Anti-Bacterial Agents ; administration & dosage ; adverse effects ; Asthma ; epidemiology ; etiology ; Child ; Child, Preschool ; China ; epidemiology ; Female ; Humans ; Infant ; Logistic Models ; Male ; Prevalence ; Risk Factors ; Rural Population ; statistics & numerical data ; Sampling Studies ; Smoking ; adverse effects ; Surveys and Questionnaires ; Urban Population ; statistics & numerical data