Objective To investigate the clinical presentation,laboratory features,imaging findings and CYP27A1 gene mutations of cerebrotendinous xanthomatosis (CTX) for improving the recognition and the early diagnosis and treatment of the disease.Methods Medical records and 8 months follow-up data of one patient who had been clinical diagnosed as CTX were collected and the pedigree and gene mutation analysis of the patient were carried out.Meanwhile,the clinical characters of CTX were analyzed according to the data from our patient and the review of the literature. Results Patient was a 36 years old male manifested with mental retardation, bilateral corticospinal tract and corticonuclear tract impairment,cerebellar lesions and peripheral neuropathy; head MRI indicated symmetric abnormal signals of bilateral basal ganglia,cerebellar dentate nucleus softening and calcification lesions; Achilles tendon MRI indicated markedly thickened Achilles tendon; gene mutation analysis showed sterol-27-hydroxylase gene( CPY27A1 )C→T homozygous mutation in 1016 nucleotide of exon 5.Ursodesoxycholic acid was given as treatment.In 8 months of follow up,for the first 6 months,the patient took medicine regularly and the illness condition was stable.But for the nearly 2 months,the patient voluntarily stopped medicine and the illness condition was worse.Conclusions CPY27A1 gene C→T homozygous mutation in 1016 nucleotide of exon 5 leads to CTX in the patient, which conforms to the characteristic of autosomal recessive disorder. CTX has some characteristic clinical manifestations,such as Achilles tendon thickening,intelligent declining and so on.But lack of specificity of early radiographic examination makes CTX easy to be delayed diagnosis and treatment.CYP27A1 gene mutation analysis has an important significance for early diagnosis of CTX,which should be paid more attention,while the early application of chenodeoxycholicacid treatment can delay the progression of the disease.

Objective To assess the reproducibility of long-term blood pressure variability in ischemic stroke and the association between the variability and cerebral microbleeds.Methods Patients with ischemic stroke at the previous 1-6 months were consecutively recruited and followed up 12-18 months.Blood pressure measurements were taken at every interview.Blood pressure variability indicated visit-to visit variability and was quantified by calculating the maximum ( Max),standard deviation (SD) and coefficient of variation (CV).For these variability might positively correlated with mean of blood pressure,the additional variability measure,SD independent of mean (SDIM),was also calculated.To determine the reproducibility of mean and variability measurements,the intraclass correlation (ICC) was also calculated.MRI was performed at baseline and the end of the study.Cerebral microbleeds were rated using Microbleed Anatomical Rating Scale (MARS).Multiple Logistic regression was used to assess the association between the visit-to-visit blood pressure variability and cerebral microbleeds.Results A total of 720 patients were recruited,of whom 595 (82.6％) subjects were present for 14 blood pressure readings during follow-up.The visit-to-visit blood variability measurements were moderately reproducible according to the ICC:0.46-0.72 for systolic blood pressure (SBP) and 0.42-0.69 for diastolic blood pressure ( DBP),respectively,P ＜0.01 for all measures.Patients with cerebral microbleeds were more likely to have higher mean blood pressure and variability for both SBP and DBP regardless the distribution of cerebral microbleeds.Being SBP Max,SBP SD,SBP CV,SBP SDIM(OR=1.036,95％ CI l.021-1.052,P=0.000; OR=1.060,95％CI 1.001-1.122,P =0.046; OR =1.084,95％ CI 1.000-1.175,P =0.049; OR =1.065,95％ CI 1.002-1.132,P =0.044) and DBP SD,DBP CV ( OR =1.111,95％ CI 1.000-1.233,P =0.049;OR =1.091,95％ CI 1.001-1.190,P =0.047) were the independently risk factors of cercbral microbleeds at deep region; SBP Max( OR =1.049,95％ CI 1.029-1.068,P =0.000) and DBP SD、DBP CV(OR =1.236,95％ CI 1.107-1.379,P=0.000;OR =1.188,95％ CI 1.087-1.298,P=0.000)independently associated with cerebral microbleeds at infratentorial location.There was no significant relation between the long-term variability of blood pressure and cerebral microbleeds at lobar region. Conclusions This study indicates that long-term blood pressure variability is substantial and independently associated with cerebral microbleeds in deep or infratentorial but not with that in lobar region.The different relations between the variability and cerebral microbleeds might indicate the heterogenic mechanisms of cerebral microbleeds.

Objective:To explore the value of linaclotide combined with compound polyethylene glycol electrolytes powder (PEG) for bowel preparation for colonoscopy.Methods:A randomized and single blind prospective clinical study was conducted in patients who intended to receive colonoscopy at the Department of Gastroenterology in Shenzhen Hospital, Southern Medical University from June 2021 to August 2021. One hundred and fifty-two patients in the experimental group were treated with 580 μg linaclotide + 2 L PEG, and 152 patients in the control group were treated with 3 L PEG. The bowel preparation effects including Boston bowel preparation scale (BBPS) score, bubble score and lesion detection rate, and safety (adverse events) were compared between the two groups.Results:The total BBPS scores were 9 (8, 9) in the experimental group, and 9 (9, 9) in the control group with no significant difference ( Z=0.141, P=0.888). The bubble scores were 1 (1, 2) in the experimental group, and 1 (1, 1) in the control group with no significant difference ( Z=1.788, P=0.074). There was no significant difference in detection rate of lesions between the experimental group and the control group [37.50% (57/152) VS 33.55% (51/152), χ2=0.517, P=0.472]. There was no significant difference in safety including incidence of nausea [7.24% (11/152) VS 13.16% (20/152), χ2=2.910, P=0.088], vomiting [2.63% (4/152) VS 7.24% (11/152), χ2=3.436, P=0.064], abdominal distension [7.89% (12/152) VS 11.84% (18/152), χ2=1.331, P=0.249] and abdominal pain [2.63% (4/152) VS 4.61% (7/152), χ2=0.849, P=0.357] between the experimental group and the control group. Conclusion:Linaclotide combined with PEG for colonoscopic bowel preparation reduces drinking water volume. The cleaning effect and safety are comparable to using 3 L PEG. It can be recommended for bowel preparation for colonoscopy.

Objective:To evaluate the screening efficacy of AI for bone marrow cell morphology.Method:Bone marrow specimens of patients attending the Second Hospital of Hebei Medical University from December 1,2019 to December 21,2020;(1) Selected from one hundred bone marrow specimens, The cases included chronic myeloid cell leukemia ( n=23), myelodysplastic syndrome ( n=4), chronic lymphocytic leukemia ( n=4), multiple myeloma ( n=5), 7 acute leukemia ( n=7), chronic anemia ( n=32), infection ( n=6) and healthy control ( n=15). Including 45 males and 55 females, with age 52(37,66)years old.The bone marrow smear prepared with Wright-Giemsa, The AI analysis system and manual audit were applied to classify 13 types of bone marrow nucleated cell, taking the results of manual audit as the gold standard, comparing the difference between the results of the two methods, using statistical software to draw the confusion matrix, The compliance between the manual audit results and the pre-classification results of the AI analysis system was calculated by the Kappa consistency test method; The consistency analysis between the pre-classification results of AI and those of the manual microscopic examination was performed by the Pearson test; (2)Statistics analyzed the blast cell differential count differences of AI and manual microscopy, to evaluate the clinical application value of AI analysis system, which soured from thirty bone marrow samples of patients diagnosed with MDS and AML. Results:76 630 images of 13 nucleated cells were obtained by AI analysis system; the weighted average experimental diagnostic efficiency parameters of 13 types of bone marrow nucleated cells, are as follows: sensitivity(%)=95.82, specificity(%)=99.19, accuracy(%)=98.89, false positive rate(%)=0.81, false negative rate (%)=4.18; the correlation results, between the pre-classification results of AI and manual microscopic classification results,showed that blast cell, promyelocytes, neutrophilic myelocyte, neutrophilic metamyelocyte, band neutrophil, segmented neutrophi,eosinophil, basophil, polychromatic erythroblast, orthochromatic erythroblast, and lymphocytes have good positive correlation ( r>0.70,all P<0.001), while basophilic erythroblast and monocytes have no obvious correlation ( r=0.32,0.30, all P> 0.001); the count results of the blast cells in bone marrow smears of MDS and AML, got by AI and manual microscopy respectively, showed that the average percentage of blast cells was 8.19% by AI and 8.68% by manual microscopy in MDS, there was no significant difference between the two methods ( P>0.05); the average percentage of blast cells was 48.52% by AI analysis system and 53.77% by manual microscopy in AML, and although there was a significant difference in blast cell count ( P<0.01), coincidence the classification diagnostic criteria for AML (blast cells ≥ 20%). Conclusion:The AI analysis system performed good sensitivity, specificity and accuracy for 13 types of bone marrow nucleated cells, which showed potential application value for the rapid classification and diagnosis of MDS and AML.

The current document is based on a consensus reached by a panel of experts from the Chinese Society of Allergy and the Chinese Society of Otorhinolaryngology-Head and Neck Surgery, Rhinology Group. Chronic rhinosinusitis (CRS) affects approximately 8% of Chinese adults. The inflammatory and remodeling mechanisms of CRS in the Chinese population differ from those observed in the populations of European descent. Recently, precision medicine has been used to treat inflammation by targeting key biomarkers that are involved in the process. However, there are no CRS guidelines or a consensus available from China that can be shared with the international academia. The guidelines presented in this paper cover the epidemiology, economic burden, genetics and epigenetics, mechanisms, phenotypes and endotypes, diagnosis and differential diagnosis, management, and the current status of CRS in China. These guidelines—with a focus on China—will improve the abilities of clinical and medical staff during the treatment of CRS. Additionally, they will help international agencies in improving the verification of CRS endotypes, mapping of eosinophilic shifts, the identification of suitable biomarkers for endotyping, and predicting responses to therapies. In conclusion, these guidelines will help select therapies, such as pharmacotherapy, surgical approaches and innovative biotherapeutics, which are tailored to each of the individual CRS endotypes.
Adult ; Asian Continental Ancestry Group ; Biomarkers ; China ; Consensus ; Diagnosis ; Diagnosis, Differential ; Drug Therapy ; Eosinophils ; Epidemiology ; Epigenomics ; Genetics ; Humans ; Hypersensitivity ; Inflammation ; International Agencies ; Medical Staff ; Neck ; Phenotype ; Precision Medicine