Objective:To investigate the distribution of clustered regularly interspaced short palindromic repeats (CRISPR) in group B Streptococcus (GBS) in the genital tract of women during the third trimester and in infants with invasive infection and its relationship with multilocus sequence typing (MLST) and drug-resistance genes. Methods:This study retrospectively collected 84 GBS strains isolated from pregnant women with GBS colonization and infants with invasive GBS infection who were admitted to Children's Hospital Affiliated to Shanxi Medical University from January 2017 to January 2022. CRISPR, MLST, and drug-resistance phenotype and genes were detected and analyzed using χ 2 test or Fisher exact probability method. MEGA11 was used to construct a dendrogram. Results:There were ten sequence typing in the 84 GBS strains and ST10 was the dominant one (46.4%). GBS was sensitive to penicillin, and its resistance rates to erythromycin (75.0%) and clindamycin (73.8%) were high. Among the 17 invasive GBS strains, ST10 had 100% resistance to erythromycin, clindamycin, and levofloxacin. CRISPR1 gene was amplified in 62 strains (73.8%). CRISPR1-positive strains had a significantly higher proportion of ST10 [56.5%(35/62) vs 18.2%(4/22), χ 2=9.56, P=0.002] and ermB, gyrA, parC [54.8%(34/62) vs 22.7%(5/22), 67.7%(42/62) vs 36.4%(8/22), 71.0%(44/62) vs 36.4%(8/22); χ 2=6.73, 6.64, and 8.25, all P<0.05], and a lower proportion of ermA [6.5%(4/62) vs 31.8%(7/22), χ 2=7.09, P=0.008] than CRISPR1-negative strains. Conclusions:ST10 is the main GBS genotype among the colonized microbiota the genital tract of pregnant women and in infants with invasive GBS infection, which is also a dominant type in CRISPR1-positive strains. GBS is sensitive to penicillin and CRISPR1 gene is linked to the spread of some drug-resistance genes.

Objective: To investigate the physical and intellectual development and mutation characteristics of the phenylalanine hydroxylase (PAH) gene among 53 newborns with phenylketonuria (PKU), so as to provide insights into the management and genetic counseling of PKU Methods: The medical records of 54 children with definitive diagnosis of PKU and standardized therapy until 2 years at the Center for Neonatal Disease Screening of Shanxi Children' s Hospital from 2018 to 2021 were collected. Newborns' body weight and height developments were evaluated using the World Health Organization growth chart (2006 version), and the intellectual development was assessed using the national criteria of Development Behavior Assessment Scale among Children at Ages of 0 to 6 Years (WS/T 580-2017). The gene mutations were detected among neonates and their children, and the physical, intellectual developments and genetic characteristics of neonates with PKU were descriptively analyzed. Results: The 53 PKU cases included 29 male children and 24 female children, 36 cases with classic PKU and 17 cases with mild PKU, and 30 cases from rural areas and 23 cases from urban areas. The study subjects had a median age of 30 (10) d at initial therapy, and a mean blood phenylalanine concentration of (1 507±685) μmol/L at definitive diagnosis. There were 52 cases with normal height developments (98.11%), and all cases had normal weight and intellectual developments. The mean developmental functional quotient (DFQ) was significantly greater among urban children with PKU than among rural children [(94.92±8.57) vs. (87.65±6.57); t=-3.498, P=0.001], and the mean DFQ was significantly higher among children with mild PKU than among those with classic PKU [(95.55±8.76) vs. (88.57±7.11); t=-3.095, P=0.003]. There were 37 mutations detected in the PAH gene, which were mainly distributed in exons 3, 6, 7, 11, 12 and intron 4. Three high-frequency mutation sites were detected, including c.728G>A, c.611A>G and c.1197A>T, including three novel mutations (c.674C>G, c.1316-2A>C and c.1069T>C). Conclusions Following standardized treatment, the children with PKU have comparable physical and intellectual developments as compared to normal children. c.728G>A, c.611A>G and c.1197A>T were predominant mutations in the PAH gene among these 53 children with PKU, and three novel mutations were identified, including c.674C>G, c.1316-2A>C and c.1069T>C.

Objective:To construct a bowel preparation assessment scale for patients undergoing enteroscopy based on Delphi method and provide clinical nurses with a scientific and convenient bowel preparation assessment tool.Method:The bowel preparation assessment scale for patients undergoing enteroscopy was constructed through literature review, Delphi expert correspondence and analytic hierarchy process. Using the convenient sampling method, a total of 1 988 patients who needed bowel cleansing due to enteroscopy in the Affiliated Hospital of Qingdao University from June 2020 to January 2022 were selected as the research objects. The patients who underwent enteroscopy from June 2020 to April 2021 were set up as the pre-application group ( n=980) and patients who underwent enteroscopy from April 2021 to January 2022 were set up as the post-application group ( n=1 008) . The qualified rate of bowel preparation in patients undergoing enteroscopy was compared between the two groups. Results:A total of 16 experts were invited for 2 rounds of correspondence. The effective recovery rates of the two rounds of questionnaires were respectively 100.00% and 93.75%, the expert authority coefficients were respectively 0.837 and 0.800, and the Kendall's harmony coefficients were respectively 0.207 and 0.280 (all P<0.01) . The final constructed bowel preparation assessment scale for patients undergoing enteroscopy included 4 first-level indicators, 18 second-level indicators and 47 third-level indicators. After the assessment scale was applied to the clinic, the bowel preparation qualified rate (82.24%) of patients in the post-application group was higher than that in the pre-application group (66.43%) , and the difference was statistically significant ( P<0.01) . Conclusions:The bowel preparation assessment scale for patients undergoing enteroscopy constructed based on the Delphi method is reliable, scientific and practical, which can effectively guide clinical nursing work.

Sensory modalities are important for survival but the molecular mechanisms remain challenging due to the polymodal functionality of sensory neurons. Here, we report the C. elegans outer labial lateral (OLL) sensilla sensory neurons respond to touch and cold. Mechanosensation of OLL neurons resulted in cell-autonomous mechanically-evoked Ca

Objective:To explore the phenotypes and genotypes of molybdenum cofactor deficiency type B (MoCD-B) manifested as Leigh-like syndrome.Methods:The clinical data, laboratory tests, neuroimaging and gene results of one patient diagnosed as MoCD-B at Beijing Children′s Hospital and Hebei Children′s Hospital in December 2018 were collected. Related literature was searched and reviewed at Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure and PubMed (up to September 2020) by using terms "MOCS2" "molybdenum cofactor deficiency" "Leigh-like syndrome,MOCS2" "molybdenum cofactor deficiency, Leigh-like syndrome". The phenotypes and genotypes of MoCD-B were summarized.Results:A 7 months and 14 days old boy with the chief complaint of "cough for 6 days, abnormal posture for 4 days and fever for 2 days" was admitted to Hebei Children′ Hospital on December 2018. His abnormal posture presented as opisthotonos accompanied with dysphagia, without seizures. His previous psychomotor development was described as normal. He was born at term after an uneventful pregnancy to non-consanguineous parents. Blood test showed a slightly increased lactic acid and a significantly decreased uric acid. Urine metabolism test showed an obviously increased xanthine and hypoxanthine. Brain magnetic resonance imaging showed hyperintense signal on T2 weighted image and fluid attenuated inversion recovery in bilateral globus pallidus and pedunculus cerebri. The patient was diagnosed with Leigh-like syndrome. No obvious improvement was achieved after cocktail therapy and symptomatic treatment. The whole exome sequencing showed that the patient carried a homozygous variant of MOCS2 gene, c.19G>T(p.Val7Phe), which was a previously reported pathogenic site in the literature and could cause MoCD-B. His parents carried a heterozygous variant respectively. A total of 41 MoCD-B cases with MOCS2 gene variants were collected through literature review and our study, among which 30 cases had full medical records. The onset ages of 23 (77%) cases were in neonate, manifesting with severe encephalopathy, including neonatal-onset intractable seizures, developmental delay, laboratory abnormalities included very low levels of serum and urinary uric acid, increased urinary levels of xanthine and hypoxanthine. Cranial imaging showed cerebral atrophy, cystic encephalomalacia, etc. The onset ages of 7 patients varied from 5 months to 23 years. Four cases had normal psychomotor development before disease onset. Neurological disorders appeared acutely or exacerbated after external triggers and all of them had basal ganglia involvement. Among the 30 cases, 3 cases had a relatively milder phenotype with the ability of brief communication and walking without or with support.Conclusions:Molybdenum cofactor deficiency is a rare disease. Most cases had severe phenotypes and poor outcomes, but some cases may have mild phenotype. MoCD-B caused by MOCS2 gene variants may manifest as Leigh-like syndrome with a normal psychomotor development before the trigger of infection strike. Hypouricemia, xanthinuria and hypoxanthinuria can be indicators of the disease. The presence of MOCS2 gene variants would confirm a final diagnosis.

Objective:To explore the pathological characteristics and outcomes of elderly patients with community acquired pneumonia (CAP) accompanied by coronavirus disease 2019 (COVID-19).Methods:The diagnosis and treatment process of one elderly patient with CAP accompanied by COVID-19 who was admitted to COVID-19 Treatment Center of Liaoning Province on February 7, 2020 were reviewed. The experience of treatment by analyzing the characteristics of such type of patients during diagnosis and treatment were summarized.Results:A female patient, aged 79 years ald, was admitted to the Center with following features: fever, dry cough, fatigue with dyspnea, scattered moist rales in both lungs, oxygenation index (PaCO 2/FiO 2) of 95 mmHg (1 mmHg = 0.133 kPa), and diffuse interstitial pneumonia in both lungs indicated by chest CT, of which the majority were ground glass-like and fibrous lesions. It was confirmed to be consistent with the feature of severe COVID-19 cases. The patient was successfully cured one month later following anti-inflammatory, anti-viral and high-flow oxygen therapies, homeostasis maintenance of the body, psychological counseling, etc. Accordingly, the treatment experience in CAP combined with COVID-19 in the elderly patients was summarized as follows. In respiratory system, the timing of high-flow oxygen therapy and mechanical ventilation should be seized. As for anti-inflammatory and antiviral therapy, attention should be paid to the treatment of CAP as well as antiviral therapy and symptomatic and supportive therapy. With the progression of the disease, the production of drug-resistant bacteria and the possibility of fungal infection should be paid attention to. For the circulatory system, we should pay attention to the stability of fluid volume and internal environment, and strengthen hemodynamic monitoring and bedside ultrasound to evaluate the cardiovascular capacity-load. In the aspect of the immune system, the selection of the application time of immune-enhancers and glucocorticoids should be paid attention to. In terms of enteral nutrition, early low-fat and high-protein diet is conducive to the recovery of intestinal function and the prevention of bacterial translocation. In addition to the protection of the function of important organs, therapies such as reasonable sedation and psychological intervention should also be used. Conclusions:Elderly patients with CAP accompanied by COVID-19 have complicated conditions and high degree of difficulty in treatment. Comprehensive evaluation of the disease as well as synthetic and effective intervention are the key factors of successful treatment of such patients.

Objective:To investigate the effect and mechanism of silent information regulator 6 (SIRT6) and gluconeogenesis-dependent rate-limiting enzymes in hepatocytes in oxidative stress injury rats and chronic-on-acute (sub-acute) liver failure (ACLF) patients.Methods:From August 2016 to May 2018, 10 patients with ACLF from Beijing Youan Hospital Affiliated to Capital Medical University were included in the ACLF group, and 10 normal donors were included in the normal control group. Level of fasting blood glucose, total bilirubin, albumin, and alanine aminotransferase (ALT) were studied. Sprague Dawley rat hepatocytes were isolated and divided into control group (without any intervention), model group (H 2O 2 intervention for 6 h), mammalian rapamycin target protein (mTOR) activation group (mTOR activation was added to the model group), mTOR inhibition group (mTOR inhibitor was added on the basis of the model group). Protein electrophoresis and polymerase chain reaction was used to detect the relative expression of glucose-6-phosphatase (G6P), phosphoenolpyruvate (PEPCK), SIRT6, and mTOR. Results:The ALT and total bilirubin level in ACLF group were significantly higher than those in the normal control group, and the differences were statistically significant (all P<0.05). In ACLF group, level of SIRT6 (0.15±0.07) μg/L and fasting blood glucose (3.19±0.59) mmol/L were significantly lower than those in the normal control group (0.46±0.15) μg/L and (7.07±2.07) mmol/L, the difference was statistically significant (all P<0.05). The relative expression of PEPCK and G6P protein in liver tissue of ACLF group was significantly lower than that of normal control group. The relative expression of SIRT6, PEPCK, and G6P in the model group were lower than those in the control group, and the differences were statistically significant (all P<0.05). When mTOR is activated, the relative expression of PEPCK, G6P, and SIRT6 was higher than those in the model group, and after mTOR inhibition, the relative expression of PEPCK, G6P, and SIRT6 was lower than in the model group. Conclusion:ACLF, SIRT6 may inhibit gluconeogenesis, and increased the occurrence of hypoglycemia through activating mTOR signaling pathway. Blocking of SIRT6 levels may slow down the progress of ACLF.

Objective:To investigate the clinicopathological characteristics of eosionphilic Chromophobe renal cell carcinoma (eChRCC), and differences in morphology, immunophenotype and clinical prognosis betweeneChRCC, renal oncocytoma(RO) and classic Chromophobe renal cell carcinoma (cChRCC).Methods:The clinicopathologic data of 17 patients diagnosed as eChRCC from the Affiliated Hospital of Qingdao University (13 cases) and 971 Hospital of PLA Navy (4 cases) from October 2006 to February 2019 were collected. Immunohistochemical analysis was carried out to compare the immunophenotypes between 17 cases with ChRCC, 27 cases with RO and 30 cases with cChRCC.Resuls:Among the 17 patients, seven were males and ten were females, and the age ranged from 40 to 75 years (median 54 years). Clinically, 15 cases of 17 were found accidentally by physical examination. The tumor size ranged from 1.8 cm to 10.0 cm (average 5.7 cm) and the cut surface of 15 cases were solid, one case was solicl and cystic, and one was cystic. Most showed gray to red, and partially soft, gray to yellow appearances. Microscopically, most tumors presented solid growth pattern with vary number of alveolar structures (12 cases). Some were predominately characterized by cystic structure (3 cases), alveolar structure(1 case) and microcapsule structure (1 case). There were boundaries with varying degrees of clarity between tumor cells in 16 cases. The cytoplasm of tumor cells was eosinophilic and the nuclei were small round or irregular with focal perinuclear haloes in 14 cases. Large polygonal cells with light-stained cytoplasm appeared focally in 9 cases, and edematous areas with scarce tumor cells were found in 4 cases. Among 7 cases, 4 cases focally invaded peripheral renal parenchyma, 2 cases invaded adipose tissues outside the renal capsule, and 1 case presented invasion of renal sinus. Immunohistochemically, all cases were moderate to strong positive for EMA and claudin-7. CK7, CD117 and Ksp-cad were highly expressed with the expression rates of 12/17, 15/17, 14/17, respectively. Cyclin D1, AMACR, CD10, S100A1, and RCC were rarely expressed with the expression rates of 4/17, 3/17, 4/17, 1/17 and 1/17, respectively. On the contrary, all cases were negative for vimentin, CAⅨ, HMB45 and Melan A. The Ki-67 proliferation index of the 17 cases was 1%?5%. Follow-up data were available for all 17 patients from 7 to 154 months. Among them, 15 patients were alive without tumor recurrence or metastasis, one patient died of pulmonary metastasis after 31 months of surgery and one patient died of hepatic metastasis after 38 months of surgery.Conclusion:eChRCC has overlapping morphology and immunophenotype with RO. eChRCC is characterized by solid nest or alveolar structure, distinct border between tumor cells, perinuclear halos and lacking of interstitial looseness and edema. Scattered large polygonal cells with light-stained cytoplasm in tumor tissue play a significant role in the diagnosis of eChRCC. The positive expression of CK7, CD117, claudin-7 and Ksp-cad, and negative expression of cyclin D1, S100A1 are helpful to the diagnosis and differential diagnosis of eChRCC. The prognosis of eChRCC after complete surgical resection is excellent and few cases may have long-term metastasis. There is no significant difference in prognosis between eChRCC and cChRCC, but eChRCC shows better outcome than RO.

Objective:To construct the clinical nursing quality evaluation standard for gastrointestinal bleeding based on three-dimensional quality model so as to provide clinical evaluation standards for the nursing quality of gastrointestinal bleeding.Methods:Totals of 30 experts from 8 ClassⅢ Grade A hospitals in Beijing, Shanghai, Shandong and Zhejiang were selected by convenience sampling as the research subjects. Based on the theoretical basis of "structure-process-outcome" quality structure model, the evaluation standards and weights of clinical nursing quality of gastrointestinal bleeding were determined through the literature search, semi-structured interviews, expert meetings, expert consultations and analytical hierarchy process.Results:In two rounds of expert consultations, the recovery rates were 93.33% and 100%; expert authority coefficients were 0.766 and 0.859, and Kendall coordination coefficient W values were 0.281 and 0.362 respectively. The final clinical nursing quality evaluation standard for gastrointestinal bleeding included 3 first-level indicators, 11 second-level indicators and 46 third-level indicators (9 structure indicators, 16 process indicators and 21 outcome indicators) . Conclusions:The clinical nursing quality evaluation indexes of gastrointestinal bleeding are constructed scientifically and the content is reasonable, which can reflect the characteristics of clinical nursing of gastrointestinal bleeding.

Objective To compare the value of presepsin,procalcitonin (PCT) and C-reactive protein (CRP) in differentiating different types of pathogenic bacteria in septic patients.Methods A prospective study was conducted to collect 322 septic patients who met the diagnostic criteria of "sepsis 3.0"in the Emergency ICU of the First Affiliated Hospital of Dalian Medical University from July 2016 to January 2018.According to the results of blood culture,patients were divided into the positive blood culture group (n=114) and negative blood culture group (n=208).Patients in the positive blood culture group were further divided into four subgroups:Gram-positive coccus (G+),Gram-negative bacilli (G-),mixed bacteria,and fungi groups.Healthy volunteers were selected as the control group (n=45).The differences in presepsin,PCT and CRP levels were compared among the groups,and the curves of the subjects' working characteristic curve (ROC) were drawn.Results Presepsin,PCT,and CRP were significantly increased in the positive blood culture and negative blood culture groups compared with the control group (all P＜0.05);Presepsin and PCT were significantly higher in the positive blood culture group than those in the negative blood culture group (both P＜0.05).There was no significant difference in Presepsin among the four subgroups in the positive blood culture group (all P＞0.05),but PCT was significantly higher in the G-and mixed bacteria groups than that in the G+ and fungi groups (all P＜0.05).Presepsin predicted a positive blood culture with area under ROC curve of 0.680,which was higher than PCT (AUC=0.599).Conclusions Presepsin is more valuable than PCT in early predicting positive blood culture in septic patients,but only PCT has an ability to differentiate pathogenic bacteria in septic patients with positive blood culture.It suggested that a combination of Presepsin and PCT should be more meaningful in clinical practice.