OBJECTIVE: To investigate the clinical and genetic features of a Chinese pedigree with Progressive familial intrahepatic cholestasis (PFIC) and explore its genotype-phenotype correlation. METHODS: A patient with PFIC diagnosed at Xinxiang Central Hospital in 2023 was selected as the study subject. The patient was subjected to abdominal magnetic resonance imaging (MRI) and painless gastroscopy. Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA and trio-whole exome sequencing (trio-WES). Candidate variants were verified by Sanger sequencing. This study has been approved by the Medical Ethics Committee of Xinxiang Hospital (Ethics No. 2023-241). RESULTS: MRI scan showed that the patient had significantly enlarged liver and spleen. WES revealed that he has harbored compound heterozygous variants of the ATP8B1 gene, including a c.1710_1711insCCTC (p.A571Pfs*12) frameshifting variant in exon 16 and a c.2989G>A (p.V997M) missense variant in exon 24, which were respectively inherited from his father and mother, and rated as pathogenic (PVS1+PM2_Supporting+PM3+PP1) and likely pathogenic (PM2_Supporting+PM3+PP1) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). CONCLUSION WES can clarify the genetic etiology of patients with speed and accuracy, and facilitate clinical decision-making. The detection of pathogenic variants has provided a basis for clinical diagnosis and enriched the mutational spectrum of the ATP8B1 gene.
Humans ; Male ; Pedigree ; Cholestasis, Intrahepatic/diagnostic imaging* ; Adenosine Triphosphatases/genetics* ; Female ; Adult ; Exome Sequencing ; Mutation ; East Asian People

Objective:To evaluate the characteristics, clinical management and clinical outcomes of type 2 intestinal failure (IF).Methods:A descriptive case-control study was carried out. The inclusion criteria were as follows: (1) the diagnosis of IF was performed according to the European Society for Parenteral and Enteral Nutrition (ESPEN) consensus statement. (2) using a requirement for parenteral nutrition (PN) of 28 days or more as surrogate marker. (3) a multidisciplinary team (MDT) included surgeons, nutritionist, pharmacist, stoma therapists, and critical care physicians. (4) complete laboratory data. Patients with type 1 and type 3 IF and those who do not cooperate with follow-up. All the data of 67 type II IF were collected from the database in Sir Run Run Shaw Hospital from Jan 2016 to Dec 2023. The pathophysiology, clinical management, and outcomes of type II IF were analyzed.Results:A total of 67 type II IF were included. The median age was 54 (15-83) with 43 males and 24 females. The body mass index was (17.5±3.8) kg/m 2, the incidence of malnutrition was 67.2% (45/67), the incidence of sarcopenia was 74.6% (50/67), the median number of previous surgeries was 2.0 (1-13), and the median duration time of PN was 2.1 (1-12) months. The underlying disease of type 2 IF included 36 Crohn`s disease, 2 ulcerative colitis, 3 radiation enteritis, 2 intestinal Behcet's disease, 4 mesenteric infarction, 1 aggressive fibromatosis, 5 abdominal cocoon syndrome, 5 gastrointestinal perforation, 1 hernia, 4 intestinal dysmotility, and 4 other reasons (gastrointestinal tumor, trauma, and non-Hodgkin's lymphoma). According to the pathophysiology of IF, there were 33 intestinal fistula, 12 intestinal dysmotility, 6 mechanical obstruction, 13 short bowel syndrome, and 3 extensive small bowel mucosal disease. After treatment with MDT, 67 patients with type 2 IF received nutritional support therapy for intestinal rehabilitation treatment, of which 36 patients recovered with oral diet or enteral nutrition, 31 patients underwent reconstructive surgery after intestinal rehabilitation treatment failure. The median duration time of reconstructive surgery was 2.7 (1-9) months. 24 patients recovered intestinal autonomy after surgery, with 7 deaths, including 6 deaths due to abdominal infections and 1 case of intestinal dysmotility with abiotrophy and liver failure. Conclusion:Standardized multidisciplinary treatment plays an important role in type II intestinal failure, and it promotes patients with intestinal failure regain enteral autonomy.

Objective:To evaluate the characteristics, clinical management and clinical outcomes of type 2 intestinal failure (IF).Methods:A descriptive case-control study was carried out. The inclusion criteria were as follows: (1) the diagnosis of IF was performed according to the European Society for Parenteral and Enteral Nutrition (ESPEN) consensus statement. (2) using a requirement for parenteral nutrition (PN) of 28 days or more as surrogate marker. (3) a multidisciplinary team (MDT) included surgeons, nutritionist, pharmacist, stoma therapists, and critical care physicians. (4) complete laboratory data. Patients with type 1 and type 3 IF and those who do not cooperate with follow-up. All the data of 67 type II IF were collected from the database in Sir Run Run Shaw Hospital from Jan 2016 to Dec 2023. The pathophysiology, clinical management, and outcomes of type II IF were analyzed.Results:A total of 67 type II IF were included. The median age was 54 (15-83) with 43 males and 24 females. The body mass index was (17.5±3.8) kg/m 2, the incidence of malnutrition was 67.2% (45/67), the incidence of sarcopenia was 74.6% (50/67), the median number of previous surgeries was 2.0 (1-13), and the median duration time of PN was 2.1 (1-12) months. The underlying disease of type 2 IF included 36 Crohn`s disease, 2 ulcerative colitis, 3 radiation enteritis, 2 intestinal Behcet's disease, 4 mesenteric infarction, 1 aggressive fibromatosis, 5 abdominal cocoon syndrome, 5 gastrointestinal perforation, 1 hernia, 4 intestinal dysmotility, and 4 other reasons (gastrointestinal tumor, trauma, and non-Hodgkin's lymphoma). According to the pathophysiology of IF, there were 33 intestinal fistula, 12 intestinal dysmotility, 6 mechanical obstruction, 13 short bowel syndrome, and 3 extensive small bowel mucosal disease. After treatment with MDT, 67 patients with type 2 IF received nutritional support therapy for intestinal rehabilitation treatment, of which 36 patients recovered with oral diet or enteral nutrition, 31 patients underwent reconstructive surgery after intestinal rehabilitation treatment failure. The median duration time of reconstructive surgery was 2.7 (1-9) months. 24 patients recovered intestinal autonomy after surgery, with 7 deaths, including 6 deaths due to abdominal infections and 1 case of intestinal dysmotility with abiotrophy and liver failure. Conclusion:Standardized multidisciplinary treatment plays an important role in type II intestinal failure, and it promotes patients with intestinal failure regain enteral autonomy.

Objective:To analyze the relationship between mesenteric fat or creeping fat and bowel stricture or penetrating disease of Crohn's disease (CD).Methods:Clinical data of 101 CD patients undergoing bowel surgery at Department of General Surgery in our hospital between Mar 2021 and Dec 2021 were retrospectively analyzed. The characteristics of mesenteric fat, creeping fat, luminal cross-section diameter, and the intestinal stricture index were analyzed. The Spearman correlation analysis was used to evaluate the correlation between disease behavior and mesenteric fat score or creeping fat score.Results:Totally 101 CD patients were enrolled, with 68 stricturing diseases and 33 penetrating diseases. CD patients with stricturing diseases had higher score of mesenteric disease activity index (4.6±1.9 vs. 3.7±2.0, t=2.212, P=0.029) and creeping fat index (4.2±2.0 vs. 2.9±1.6, t=3.154, P=0.002) than those in patients with penetrating diseases. The mesenteric fat and creeping fat score positively correlated with the intestinal stricture index, C-reactive protein, and fecal calprotectin, and negatively correlated with minimum luminal cross-section diameter. Conclusion:The higher score of mesenteric fat and creeping fat were observed in CD patients with stricturing disease, which were associated with intestinal stricture index and inflammation status.

Objective:To analyze the risk factors for postoperative surgical site infections (SSIs) in patients with Crohn's disease (CD).Methods:This retrospective observational study included CD patients undergoing bowel resection between July 2015 and July 2018. The prevalence and risk factors of SSIs were evaluated. The microbiological evaluation from patients with SSIs was performed by bacterial culture and drug sensitivity test.Results:There were 66 patients suffering SSIs, with 41 incisional SSIs and 32 organ/space SSIs. Multivariate analysis identified the preoperative infliximab therapy ( OR 2.338,95% CI 1.192-4.587, P=0.013), laparoscopic surgery ( OR 0.460,95% CI 0.226-0.936, P=0.013), and preoperative white blood cell ( OR 2.008,95% CI 1.018-3.961, P=0.044) as independent factors for SSIs. Fifty-nine strains of pathogenic bacteria were detected in 66 cases of CD combined with SSIs, including 36 strains of gram-negative bacteria, 5 strains of gram-positive bacteria, and 2 strains of fungi. Escherichia coli and Klebsiella pneumoniae were main G - bacteria, with high resistance to common used antibiotics. Enterococcus faecalis and Enterococcus faecium were main G -. 62.1% of the SSIs grew extended-spectrum β-lactamase (ESBL)-producing pathogens in their bacteria cultures and 37.9% grew non-ESBL microbes. Conclusion:The incidence of SSIs was higher in CD patients. Preoperative infliximab therapy, preoperative white blood cell, and laparoscopic surgery were predictors of SSIs.

Objectives:To assess bowel function and quality of life in patients with ulcerative colitis (UC)after ileal pouch anal anastomosis (IPAA).Methods:Clinical data of 37 UC patients after IPAA between 2014 and 2017 were retrospectively analyzed at Sir Run Run Shaw Hospital School of Medicine Zhejiang University. The IBDQ and Bowel Function questionnaire were used for analyzing correlation between clinical variables and quality of life or bowel function.Results:Laparoscopic operation was performed in 12 cases at stage 2 and 25 cases at stage 3. Postoperative defecation of stage 3 patients were better than that of stage 2 ( t=6.72, P<0.05). The number of daily defecation in age >45-year-old group was more than that in <45-year-old ( t=3.49, P<0.05), and the rate of evening stool seepage in the older group was higher than in the younger group( t=5.28, P<0.05). The total score of intestinal symptoms of IBDQ in patients of pouchitis was lower than that without pouchitis ( r=0.330, P<0.05). The total score in age >45 in terms of systemic symptoms ( r=0.349, P<0.05) and emotional function ( r=0.379, P<0.05) was higher than age <45. Conclusions:Outcomes of UC patients after IPAA are satisfactory, bowel function and quality of life is related with age, and stage of IPAA affect postoperative defecation.

Objective:To investigate effects of bone-resorptive lesion on stress distribution of femoral head and on progression in patients with osteonecrosis of the femoral head (ONFH).Methods:From April 2014 to September 2018, a total of 155 femoral heads from 94 patients diagnosed with ARCO stage II and III ONFH were retrospectively reviewed, including 77 males and 17 females with aged 39.90±10.45 years old (ranged from 18-64 years). The hips were divided into two groups according to whether there were bone-resorptive lesions. Further, we compared whether there was statistical difference between the two groups in staging. Then, a case of ARCO II hip joint without bone-resorptive lesion was selected from the included patients. Six femoral head with different diameters of spherical bone-resorptive lesion of 5 mm, 7 mm, 10 mm, 14 mm, 18 mm, and 23 mm were simulated. The influence of bone-resorptive lesion on the stress distribution of necrotic area and a spherical shell extending 1 mm radially around the bone-resorptive lesion was investigated by finite element method in slow walking conditions.Results:Of the 155 ONFH hips, 67 hips are complicated by bone-resorptive lesions, of which 17 were ARCO II, 50 were ARCO III. A total of 88 hips did not contain bone-resorptive lesions, of which 58 were ARCO II, ARCO III 30 cases. The proportion of ARCO stage II in the group with bone-resorptive lesions was significantly higher than that in the group without bone-resorptive lesions (χ 2=25.03, P=0.000). The finite element stress distribution cloud diagram showed that there was a stress concentration area around the bone-resorptive lesions. The maximum von Mises stress around bone-resorptive lesions in the models that contained a synthetic bone-resorptive lesions were significantly higher than those reported in the matched, non-synthetic bone-resorptive lesions finite element models ( t=3.139, P=0.026). The values for maximum von Mises stress around bone-resorptive lesions were 6.94±1.78 MPa and 5.01±0.35 MPa for the group with synthetic bone-resorptive lesions and the group non-synthetic bone-resorptive lesions, respectively. There was a positive correlation between the diameter of bone-resorptive lesions and the maximum and mean von Mises stress of necrotic areas as well as the maximum von Mises stress around bone-resorptive lesions. Conclusion:Bone-resorptive lesions can increase the maximum stress and average stress in the necrotic area. The larger the bone-resorptive lesion, the more the stress increases. There is a stress concentration area around the bone-resorptive lesions, which may accelerate the collapse of the femoral head.

Objective To study the clinical effect of chlorhexidine acetate solution for oral care in patients with endotracheal intubation. Methods From February 2017 to August 2017, 160 patients with tracheal intubation in our department were divided into the observation group (80 cases) and the control group (80 cases) by random number table method. The observation group was treated with chlorhexidine acetate solution, and the control group used the compound Borax solution for oral care. The oral condition score, the positive rate of oral bacterial culture, the incidence rate of ventilator-associated pneumonia were compared between two groups. Results In the observation group, the oral condition score and the positive rate of oral bacterial culture were 10.29 ± 2.04 and 16.25% (13/80) on the 3rd day after theoral care. In the control group, the oral condition score and the positive rate of oral bacterial culture were 12.79 ± 1.97 and 31.25%(25/80) on the 3rd day after the oral care. There were statistically significant differences between the two groups (t=-7.895, P<0.01; χ2=4.970, P<0.05). The incidence and occurrence time of ventilator-associated pneumonia in the observation group were 7.50% (6/80), (9.33±1.37) d. The incidence and occurrence time of ventilator-associated pneumonia in the control group were 18.75% (15/80), (5.87 ± 1.06) d. The difference between the two groups was statistically significant (χ2=4.440, P<0.05; t=6.248, P<0.01). Conclusions The chlorhexidine acetate flushing oral care can significantly improve dental status, reduce the positive rate of oral bacterial culture and the incidence of ventilator-associated pneumonia, and prolong the occurrence time of ventilator-associated pneumonia in patients with endotracheal intubation.

Objective To investigate the prevalence of thyroid nodules and thyroid dysfunction in southern mountainouss areas of Ningxia.Methods A cross-sectional study was conducted among a representative sample of 10 639 adults in Jingyuan county with a population proportionate sampling method.High-resolution ultrasound was used to examine the thyroid and fasting blood specimens were collected in the morning for measurement of TSH,FT4,FT3.Chi-square test and spearman rank correlation analysis were used for statistical analysis.Results The prevalence of thyroid nodules was 29.08％,the sex-and age-adjusted rate was 27.17％.The prevalence of thyroid nodules was higher in women than in men (32.68％ vs.24.88％,x2=76.029 2,P＜0.001) and age was positively associated with thyroid nodules (r=0.272,P＜0.001).The rate of thyroid dysfunetion,subclinical hypothyroidism,subclinical hyperthyroidism,hypothyroidism,hyperthyroidism were 17.39％,13.00％,0.42％,0.96％,3.01％,respectively.The prevalence of thyroid nodules was higher in abnormal TSH group than in normal TSH group (39.44％ vs.27.24％,x2=95.624 0,P＜0.001).The level of THS,FT3,FT4 in thyroid nodules group differed fromn control group (Z=-9.144,P＜0.001;Z=-6.140,P＜0.001;Z=-1.997,P=0.046).Conclusion The prevalence of thyroid nodules and thyroid dysfunction were higher in southern mountainous areas of Ningxia.The relationship between thyroid nodules and thyroid function needs further research.We should pay attention to the early screening and diagnosis of thyroid nodules in mountainous areas.

OBJECTIVE To investigate the effect of the treatment of allergic rhinitis on the quality of life of patients with bronchial asthma.METHODS Fifty-three patients with moderate-severe allergic rhinitis and mildmoderate asthma were included in this study and all of them had not yet received treatment for allergic rhinitis.There were 20 males and 33 females with an age ranged from 18 to 76 years.They had been treated with Salmeterol/Fluticasone propionate(seretide) 50/100 μg twice a day and combined with Ventolin if needed.On this basis,they were treated with loratadinel0 mg and Fluticasone proplonate nasal spray 200 micrograms once daily for 12 weeks.The visual analog scale,the asthma control test and Juniper's asthma quality of life questionnaire were recorded before and after treatment.RESULTS After treatment of allergic rhinitis,the rate of full asthma control was 28％,the rate of partial asthma control was 63％,and the rate of uncontrolled asthma was 9％.There was a significant improvement in asthma control after treatment of allergic rhinitis(P＜0.05).The scores after treatment were higher than that before treatment in all dimensions of asthma quality of life questionnaire(P＜0.01).CONCLUSION Allergic rhinitis and bronchial asthma are two closely related diseases,treatment of allergic rhinitis is benefit to bronchial asthma control and can improve the quality of life of the patients.