The STAR tool was used to evaluate and analyze the science, transparency, and applicability of Chinese pathology guidelines and consensus published in medical journals in 2022. There were a total of 18 pathology guidelines and consensuses published in 2022, including 1 guideline and 17 consensuses. The results showed that the guideline score was 21.83 points, lower than the overall guideline average (43.4 points). Consensus ratings scored an average of 27.87 points, on par with the overall consensus level (28.3 points). Areas that scored above the overall level were "conflict of interest" and "working groups", while areas that scored below the overall level were "proposals", "funding", "evidence", "consensus approaches" and "accessibility". To sum up, the formulation of pathology guidelines and consensuses in 2022 is not standardized, and the evidence retrieval process, evidence evaluation methods and grading criteria for recommendations on clinical issues are not provided in the formulation process; the process and method for reaching consensus are not provided, the plan is lacking, and registration is not carried out. It is therefore suggested that guidelines/consensus makers in the field of pathology should attach importance to evidence-based medical evidence, strictly follow guideline formulation methods and processes, further improve the scientific, applicable and transparent guidelines/consensuses in the field, and better provide support for clinicians and patients.

Objective To review the literatures about ability in management of perioperative frailty in the elderly cancer patients and to provide references for clinical development of perioperative frailty management.Methods The methodological framework proposed by Arskey and O'Malley was used to retrieve studies on perioperative management of frailty in elderly cancer patients through the databases of CNKI,Wanfang Data,Chinese Biomedical Literature,PubMed,CINAHL,Embase,Cochrane and Scopus,from inception of the databases to May 2023.The included literatures were summarised and analysed by two independent researchers.Results A total of 23 studies were included,with 14 randomised controlled trials,6 reviews,1 expert consensus and 2 quasi-experimental studies.Perioperative frailty management abstracted from the retrieved literatures included preoperative frailty management,early postoperative frailty management,continuous frailty management after discharge,and hospice care management.Conclusions Perioperative fateful management of elderly cancer patients is diversified,including management of perioperative frailty,early postoperative frailty,continuous frailty after discharge and hospice care.The results of this study provide references in perioperative frailty management of elderly cancer patients.

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a child with multiple pterygium syndrome (MPS). METHODS: A child with MPS who was treated at the Orthopedics Department of Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University on August 19, 2020 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were also collected. Whole exome sequencing (WES) was carried out for the child. Candidate variant was validated by Sanger sequencing of her parents and bioinformatic analysis. RESULTS: The child, an 11-year-old female, had a complain of "scoliosis found 8 years before and aggravated with unequal shoulder height for 1 year". WES results revealed that she has carried a homozygous c.55+1G>C splice variant of the CHRNG gene, for which both of her parents were heterozygous carriers. By bioinformatic analysis, the c.55+1G>C variant has not been recorded by the CNKI, Wanfang data knowledge service platform and HGMG databases. Analysis with Multain online software suggested that the amino acid encoded by this site is highly conserved among various species. As predicted with the CRYP-SKIP online software, the probability of activation and skipping of the potential splice site in exon 1 caused by this variant is 0.30 and 0.70, respectively. The child was diagnosed with MPS. CONCLUSION The CHRNG gene c.55+1G>C variant probably underlay the MPS in this patient.
Humans ; Child ; Female ; Abnormalities, Multiple/genetics* ; Malignant Hyperthermia/genetics* ; Skin Abnormalities/genetics* ; Heterozygote ; Mutation ; Receptors, Nicotinic/genetics*

Objective:To investigate clinical phenotypes of type Ⅳ hereditary hemochromatosis caused by c. 430A>G heterozygous mutation of SLC40A1 gene and the correlation between genotype and phenotype, exploring ferritin cutoff value for screening.Methods:One case of type Ⅳ hereditary hemochromatosis with c. 430A>G heterozygous mutation in the SLC40A1 gene and 5 generations of their family lineage with a total of 47 members who were seen at the First Affiliated Hospital of Nanjing Medical University in July 2020 were studied for systematic clinical investigation. Thirty-nine surviving individuals were tested for ferritin, liver function, fasting plasma glucose (FPG), and sex hormones, and Sanger sequencing was performed to verify the mutation loci and to map the family tree. Spearman correlation analysis was used to explore the relationship between ferritin and other indicators, and receiver operating characteristic curves were used to calculate the ferritin cutoff value for screening for this genotype of hemochromatosis.Results:Ten patients with c. 430A>G heterozygous mutation in the SLC40A1 gene were identified among 39 family members, and five of them were diagnosed with hemochromatosis, presenting incomplete penetrance. The differences in levels of ferritin, aspartate aminotransferase (AST; both P<0.01) and FPG, as well as incidences of hypogonadotropic hypogonadism and arthritis (all P<0.05) between group of mutation positive and group negative were statistically significant, while the difference in alanine aminotransferase (ALT) was not. Spearman correlation analysis showed that, ferritin levels were significantly associated with ALT ( r=0.903), AST ( r=0.879), FPG ( r=0.782), and the incidences of hypogonadotropic hypogonadism ( r=0.798) and arthritis ( r=0.798; all P<0.01) in those with the c. 430A>G heterozygous mutation in the SLC40A1 gene. The ferritin cutoff value for screening of hereditary hemochromatosis with c. 430A>G heterozygous mutation in the SLC40A1 gene was 1 036.7 μg/L, with a sensitivity and specificity of 100% and 94.3%, respectively. Conclusion:The SLC40A1 gene c. 430A>G heterozygous mutation is closely associated with elevated levels of AST and FPG, increased incidences of hypogonadotropic hypogonadism and arthritis, and the ferritin cutoff value is a useful screening parameter.

Objective? To explore the effects of scenario simulation combined with case share on fall prevention education in elderly patients. Methods? A total of 80 elderly patients admitted in Shaanxi Provincial People's Hospital from January 2016 to December 2017 were selected by convenient sampling and equally divided into two groups according to the random number table. Patients in the control group received conventional fall prevention education, while patients in the observation group received fall prevention education which combined scenario simulation and case share. Falls of patients, effects of education and satisfaction were compared between the two groups. Results? The incidence rate of falls in the observation group during hospitalization was 10.0%, while that in the control group was 20.0% (χ2=4.325; P＜0.05); the knowledge of fall prevention, the awareness of fall prevention and fall prevention compliance scored (86.3±5.2), (84.2±5.3) and (91.3±8.4), higher than those in the control group (t=9.981, 9.040, 12.872; P＜ 0.01), which were (76.3±4.4), (75.2±3.4) and (71.3±5.1) respectively. The satisfaction with nursing in the observation group was 95.0%, higher than that in the control group (χ2=4.201; P＜0.05). Conclusions? Fall prevention education which combines scenario simulation and case share can effectively enhance the awareness of fall prevention, reduce the incidence of falls and improve the satisfaction with nursing in the patients, which is worth promoting in clinical practice.

Objective To investigate the associated factors and trends of prehospital delay in elderly patients with acute ischemic stroke (AIS).Methods Elderly patients with AIS admitted to the First People's Hospital of Qujing from 2007 to 2017 were enrolled retrospectively.The data of patients was collected from the medical records.Onset-to-door time ＞ 2 h was defined as prehospital delay.The demographic and baseline data were compared between the delay group and the non-delay group.Multivariate logistic regression analysis was used to determine the associated factors for prehospital delay.In addition,the trends of prehospital delay time at the different stages of the study were also analyzed.Results A total of 1 566 patients with AIS aged ≥65 years were enrolled.Their mean age was 75.61 ±6.06 years.The mean time of prehospital delay was 10.83 ± 7.47 h (median time 8.27 h).Multivariatelogistic regression analysis showed that advanced age (odds ratio [OR] 1.271,95％ confidence interval [CI] 1.029-2.896;P =0.039),nocturnal onset (OR 1.413,95％ CI 1.067-3.859;P=0.013),and atypical symptom onset (OR 2.345,95％ CI 1.184-8.126;P=0.029) were independently positively correlated with prehospital delay,while the emergency medical service transport (OR 0.743,95％ CI 0.261-0.998;P =0.010),having medical insurance (OR 0.219,95％ CI 0.015-0.799;P =0.042),and having a bystander at the time of onset (OR 0.618,95％ CI 0.149-0.814;P=0.003) were independently negatively correlated with prehospital delay.At the different stages of the study,January 2007 to October 2010,November 2010 to April 2015,and May 2015 to December 2017,the mean time of prehospital delay was 12.59 ± 7.06 h,10.57 ±7.78 h,and 8.47 ±7.07 h,respectively.They showed a decrease trend,but the difference was not statistically significant.Conclusion Advanced age,nocturnal onset,and atypical symptom onset were the independent risk factors for prehospital delay,while emergency medical service transport,having medical insurance,and having a bystander at the time of onset were the independent protective factors for prehospital delay.The delay time of the elderly patients with AIS is declining year by year,but the improvement is not significant.The delay in seeking timely medical intervention remains an important public health problem.

Objective To evaluate the differences of the malignant rate of thyroid nodules between primary hyperparathyroidism (PHPT) patients and health examination population, and analyze the clinical characteristics of PHPT combined with papillary thyroid carcinoma (PTC). Methods The clinical data of 158 PHPT patients who had underwent parathyroidectomy and 468 thyroid nodule patients who had underwent fine-needle aspiration (FNA) from 2009 to 2014 were retrospectively analyzed, and the detection rate of PTC in patients with thyroid nodule was recorded. Results Of the 158 patients with PHPT, 61 patients had thyroid nodules, the incidence of PHPT with thyroid nodule was 38.6% (61/158), and postoperative pathologically proved PTC was in 12 cases (19.7%). Of the 468 thyroid nodule patients who had underwent FNA, postoperative pathologically proved PTC was in 19 patients (4.1% ). The malignant rate of thyroid nodules in PHPT patients was significantly higher than that in health examination population (P＜0.01). The adjusted serum calcium in patients with PHPT combined with PCT was significantly lower than that in patients with PHPT combined with benign thyroid nodules and patients with PHPT without thyroid nodules: (2.63 ± 0.26) mmol/L vs. (2.92 ± 0.32) and (2.93 ± 0.47) mmol/L, and there was statistical difference (P＜0.05). Conclusions The malignant rate of thyroid nodules in PHPT patients is significantly higher than that in patients from health examination population, which suggests that PHPT might be a risk factor for the malignancy of thyroid nodules. A lower level of serum calcium may predict the existence of PCT in PHPT patients with thyroid nodules.

Objective: Hepatocyte nuclear factor 1 homeobox b (HNF1B) -associated disease is an autosomal dominant inherited disorder with a variable, multi-systemic phenotype. In China, five adult probands and one child proband with HNF1B-associated disease had been reported, whereas few fetuses are described. The aims of this retrospective study were to understand about the clinical manifestations of HNF1B-associated disease and to further improve the recognition of this disorder. Method: Four patients (3 males, 1 female) and three fetuses with HNF1B mutations were included in this study. They were admitted to our hospital from January 2013 to March 2017. HNF1B mutations were detected using targeted next generation sequencing and quantitative real-time PCR or Sanger sequencing. HNF1B heterozygous deletion of exons 1-9 was found in 4 patients and 2 fetuses, and HNF1B heterozygous missense mutation in 1 fetus. These two mutations had been reported. Two patients and 1 fetus had de novo mutations. Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine examination and other necessary investigations in 7 cases were analyzed. Result: Three patients were Han Chinese ethnicity, and one patient was Mongolian. In patients 1 and 4, abnormal fetal kidneys were discovered by routine ultrasonography, and the age at first feature identified in Patients 2 and 3 were 13 years and 28 years. Patient 3 had normal renal function and the remainder had reduced glomerular filtration rate. In addition, patient 4 presented with nephrotic syndrome and glycosuria, patient 2 with early onset hyperparathyroidism and renal osteodystrophy, and patient 3 with diabetes mellitus. All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechogenic kidneys. Only patient 3 had a positive family history of renal diseases, the remainder had a negative family history of renal diseases. In 3 fetuses, prenatal ultrasound anomalies were detected during the second trimester. These 3 fetuses had hyperechogenic kidneys with or without renal cysts. Polyhydramnios was detected in only one of the 3 fetuses. Two of the 3 fetuses had a positive family history of renal diseases. Conclusion Clinical phenotypes of HNF1B-related disease are heterogeneous, renal malformations clearly appear to be the most common manifestation, multiple renal cysts are characteristic, and patients can progress to impaired kidney function during childhood; HNF1B mutation is a differential diagnosis of fetal hyperechogenic kidneys or multiple renal cysts.

Objective To investigate the effects of c?myc promoter binding protein 1(MBP?1)gene on the proliferation of human Saos?2 osteo?sarcoma cells in vitro. Methods Saos?2 cells were divided into three groups:blank control group(untransfected cells),negative group(cells transfected with missense sequence)and experimental group(cells transfected with MBP?1 shRNA). Two MBP?1 shRNA sequences and one neg?ative control shRNA sequence were designed ,synthesized and cloned into pSIREN?retroQ plasma. Then the recombinant plasmids were construct?ed and transfected into human Saos?2 osteosarcoma cells by Lipofectamine 2000. The expressions of MBP?1 mRNA and protein in Saos?2 cells were detected by real?time PCR and Western blot ,respectively. The effects of altered expression of MBP?1 on cell proliferation were measured by CCK?8 cell proliferation assay. The expressions of cyclin D1 and cyclin E in Saos?2 were determined by Western blot. Results PCR and sequenc?ing results indicated that the recombinant plasmids pSIREN?retroQ was constructed. The relative expression level of MBP?1 mRNA in the MBP?1 siRNA transfection group was significantly decreased than that in blank control group(P<0.05). Compared with the blank control group,the ex?pression levels of MBP?1 protein in the experimental group also significantly decreased. The proliferation abilities of Saos?2 cells at 48,72,and 96 hours after MBP?1 siRNA transfection were significantly increased than those in the blank control group(P<0.05). Compared with the blank con?trol group,the expression levels of cyclin D1 and cyclin E protein in the experimental group also significantly increased(P<0.05). Conclusion Knockdown of the expression of MBP?1 gene promotes the proliferation of human Saos?2 osteosarcoma cells. MBP?1 gene may become the new tar?get of gene therapy for osteosarcoma.

Objective To evaluate premature clopidogrel cessation,intraoperative tranexamic acid and their interaction on bleeding and transfusion outcomes in on-pump CABG patients.Methods The current study is a prospective and randomized trial with 2 × 2 factorial design.The first factor is preoperative clopidogrel with 2 levels,clopidogrel ingestion within 7 days preoperatively (group E) and nave to clopidogrel (group B).The second level is antifibrinolytic therapy with 2 level,tranexamic acid (group T) and placebo (group P).A total of 333 patients receiving selective on-pump CABG were recruited.The tranexamic acid regimen was a bolus of 10 mg · kg-1 followed by a maintenance of 10 mg · kg 1 · h-1 throughout the surgery.Results Baseline characteristics were fairly balanced among the groups.Tranexamic acid significantly reduced postoperative blood loss.major bleeding,the volume of erythrocyte and plasma transfused,the exposure of erythrocyte,plasma and any allogeneic products (ET vs EP,P ＜ 0.01 ; BT vs BP,P ＜ 0.01).Clopidogrel within 7 days preoperatively significantly increased blood loss (EP vs BP,P＜0.05),major bleeding,the volume of erythrocyte (EP vs BP,P＜0.01) and the exposure of erythrocyte and plasma (EP vs BP,P ＜ 0.05) and any allogeneic products (EP vs BP,P ＜ 0.01).Under the protection of tranexamic acid,the bleeding and transfusion outcomes were comparable between the patients with premature clopidogrel cessation and those nave to clopidogrel (ET vs BP,P ＞0.05).Perioperative mortality,morbidity and the incidence of adverse events were comparable among the groups except for IABP.Conclusion Comparing with nave to clopidogrel,premature cessation within 7 days preoperatively deteriorated bleeding and transfusion outcomes in on-pump CABG patients.Intraoperative tianexamie acid could reduce the risk.