Objective To observe the effects of hirudo capsules on degree of platelet activation and blood rheology in patients with cerebral arteriosclerosis. Methods 122 patients with cerebral arteriosclerosis were randomly divided into two groups by the random number table:observation group(61 cases)and control group (61 cases). The two groups received conventional treatment such as antihypertensive and hypoglycemic drugs,and 100 mg of aspirin once a day. In the observation group,additionally hirudo capsules 0.75 g,3 times a day were given. The therapeutic course in both groups was 2 months. Prior to the start of treatment and on the next day after the end of treatment,traditional Chinese medicine(TCM)clinical syndrome integral,platelet membrane glycoproteins caspase 1 (PAC-1),platelet adhesion molecule P selection(CD62P)positive rate,and blood rheology indexes were detected,in addition to the adverse reactions . Results Before treatment,there were no statistical significant differences between the two groups in terms of TCM clinical syndrome integral such as headache,dizziness,head fullness,multiple somnolence amnesia,lip dark purple,sublingual veins purple in color,PAC-1,CD62P positive rate,hemorheology indexes(all P>0.05). After treatment,TCM clinical syndrome integral PAC-1,CD62P,low shear viscosity,high shear viscosity,plasma viscosity and the hematocrit of two groups were significantly lower than those before treatment, the improvement in observation group being more remarkable〔headache:0.75±0.69 vs. 1.23±0.92,dizziness:0.96±0.78 vs. 1.54±1.24,head fullness:0.65±0.59 vs. 1.48±1.17,multiple somnolence amnesia:0.77±0.72 vs. 1.69±1.14,lip dark purple:0.83±0.81 vs. 1.32±0.79,sublingual veins purple:0.84±0.67 vs. 1.20±0.74, PAC-1:(10.31±4.57)%vs.(15.13±6.27)%,CD62P:(11.39±5.24)%vs.(16.40±7.91)%,low shear viscosity (mPa?s):7.52±3.37 vs. 8.97±3.50,high shear viscosity(mPa?s):4.35±1.12 vs. 5.58±1.19,plasma viscosity (mPa?s):1.54±0.35 vs. 1.88±0.42,hematocrit(HCT):0.43±0.09 vs. 0.49±0.10〕. In the patients' follow-up, there were no obvious side effects of hirudo capsules. Conclusion Hirudo capsule is a safe and effective drug for treatment of patients with cerebral arteriosclerosis as it is helpful in reducing platelet activation degree and improving the blood rheology indexes.

OBJECTIVE: To explore the genetic etiology of a child with D bifunctional protein deficiency (DBPD) born to a consanguineous pedigree. METHODS: A child with DBPD who was admitted to the First Affiliated Hospital of Hainan Medical College on January 6, 2022 due to hypotonia and global developmental delay was selected as the study subject. Clinical data of her pedigree members were collected. Peripheral blood samples of the child, her parents and elder sisters were collected and subjected to whole exome sequencing. Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a 2-year-and-9-month-old female, had featured hypotonia, growth retardation, unstable head lift, and sensorineural deafness. Serum long-chain fatty acids were elevated, and auditory brainstem evoked potentials had failed to elicit V waves in both ears with 90 dBnHL stimulation. Brain MRI revealed thinning of corpus callosum and white matter hypoplasia. The child's parents were secondary cousins. Their elder daughter had a normal phenotype and no clinical symptoms related to DBPD. Elder son had frequent convulsions, hypotonia and feeding difficulties after birth, and had died one and a half month later. Genetic testing revealed that the child had harbored homozygous c.483G>T (p.Gln161His) variants of the HSD17B4 gene, for which both of her parents and elder sisters were carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.483G>T (p.Gln161His) was rated as a pathogenic variant (PM1+PM2_Supporting+PP1+PP3+PP4). CONCLUSION The homozygous c.483G>T (p.Gln161His) variants of the HSD17B4 gene caused by the consanguineous marriage probably underlay the DBPD in this child.
Female ; Humans ; Pedigree ; Muscle Hypotonia ; Hearing Loss, Sensorineural ; Protein Deficiency ; Mutation

Objective:To retrospectively analyze the urodynamics quality in Southwest China, and find out the main issues of urodynamics quality in Southwest China and try to find out the improvement ways.Methods:In this study, a two-stage sampling method was used.In the first stage, 10 medical institutions in Southwest China were selected by cluster sampling from March to June, 2020.In the second stage, according to the development of UDS in Southwest China, the sample size estimation formula was adopted, and the loss of follow-up rate in reports extraction was considered, the initial sample size was 350. As the workload of UDS in the 10 medical institutions involved in the study was equivalent, 35 urodynamics traces from each medical institution were selected. The initial samples should also meet the inclusion criteria: ①patients with clear medical history and complete clinical data; ②UDS traces were clear; ③UDS system was water filled system; ④age>18, and 150 urodynamic traces were included in the final study. We evaluated the quality of enrolled urodynamics traces, and the quality evaluation standard according to the guidelines established by the International Continence Society (ICS). The evaluation conducted by two independent urologist with more than 10 years working experience. Artifacts were divided into non-technical artifacts: abnormal abdominal pressure changes, urine volume <150 ml when did the uroflow test, and technical artifacts: non-standard zero setting, fail to record all urodynamics parameters, baseline drift, catheter displacement, misjudgment of detrusor physiological contraction and detrusor overactive in voiding phase, misjudgment between detrusor overactive and bladder low compliance in filling phase.Results:non-technical artifacts: 32 cases were found abnormal abdominal pressure changes (21.3%), 21 cases (14.0%) were found when did the uroflow test the urine volume <150 ml, and technical artifacts: Non-standard zero setting in 28 cases (18.7%), fail to record all urodynamics parameters in 8 cases, baseline drift in 16 cases, catheter displacement in 9 cases and misjudgment of detrusor physiological contraction and detrusor overactive in voiding phase in 12 cases, misjudgment between detrusor overactive and bladder low compliance in filling phase in 24 cases (16.0%).Conclusions:At present, the urodynamics quality in Southwest China need to be improved. The main issues were that the operator didn’t obey the basic operation and quality control process, and the operator did not have enough basic knowledge of urodynamics. It can be improved by strictly carry out the operation standard of UDS, identifying and correcting artifacts in time, and promoting the standardized urodynamic training courses.

Objective To investigate the clinical features,auxiliary examination,treatment and efficacy of human leucocyte antigen(HLA)-B27-positive enthesitis related arthritis (ERA).Methods The clinical manifestations,auxiliary examination,treatment and follow-up of HLA-B27-positive ERA diagnosed in the Children's Hospital of Chongqing Medical University from January 2007 to August 2017 were analyzed retrospectively.SPSS 19.0 software was used for data processing.Results A total of 70 children were enrolled,including 67 males and 3 females,and the average age of onset was(10.08 ± 2.67) years old.Clinical features:all of the 70 children had peripheral arthritis with or without enthesitis,and axial arthritis symptoms appeared in 24.3％ (17/70 cases) children,and 35.7％ (25/70 cases) children showed enthesitis.The onset of peripheral arthritis accounted for 87.1％ (61/70 cases),and all cases showed peripheral arthritis during the course of the disease,mostly the knees.Two cases were complicated with uveitis.Forty-seven cases (67.1％) were positive in Patrick test,and 9 cases(12.9％) had sacroiliac joint tenderness.The average Juvenile Arthritis Disease Activity Score with 27 joints (JADAS27) score was 20.12 ± 8.61.Twenty-seven cases (38.6％) had positive family history.Auxiliary examination:Erythrocyte sedimentation rate,C-reactive protein(CRP) and platelets increased in most children,and a few with leukocytosis increased slightly,nearly half of children with anemia mildly or moderately,and serum tumor necrosis factor-α(TNF-α),interleukin (IL)-6,IL-1β,IL-10 levels increased.Eighty-eight point six percent (31/35 cases) children had decreased bone mass;the positive rate of X-ray examination was 81.1％ (43/53 cases),including 5 cases of sacroiliac joint disease;the positive rate of uhrasonography was 81.5 ％ (44/54 cases);the positive rate of nuclear magnetic resonance (MRI) was 95.1％ (58/61 cases),including 30 cases (42.9％) of sacroiliitis.Treatment and outcome:Nonsteroidal antiinflammatory drugs (NSAIDs),disease modifying antirheumatic drugs (DMARDs),glucocorticoids,calcium and alfacalcidol were added,and 50.0％ (35/70 cases) patients had added TNF-α antagonist.The follow-up of all of the patients showed improvement in terms of clinical symptoms,laboratory tests and JADAS27 score after standard treatment.Conclusions It is difficult to diagnose but easy to misdiagnose because of the lack of specificity of ERA clinical symptoms.The improvement of imaging techniques,especially MRI,is helpful for the early diagnosis of ERA.To strengthen the understanding and management of ERA,and to grasp its clinical features,immunology and imaging features,help to make timely diagnosis and reasonable treatment,and to improve physical function and quality of life of patients,and to avoid or delay disability.