Objective:To explore the genetic basis of a myopathic patient with pathological characteristics including tubular aggregates and vacuoles.Methods:Next generation sequencing was carried out for the patient, and candidate variant was verified by Sanger sequencing.Results:Genetic testing revealed that the patient has harbored a heterozygous c. 730G>C (p.D244H) variant of Calsequestrin 1 ( CASQ1) gene. The same variant was not found in his unaffected parents. Based on guidelines from the American College of Medical Genetics and Genomics, the variant was rated as pathogenic (PS1+ PM2+ PP3). Conclusion:The novel c. 730G>C (p.D244H) variant of the CASQ1 gene probably underlay the myopathy in this patient. Above finding has enriched the mutational spectrum of the CASQ1 gene.

Objective To understand the disease acceptance status and related factors in human immunodeficiency virus(HIV)-infected/acquired immunodeficiency syndrom(AIDS)patients,so as to guide the clinical development of intervention measures,and to provide empirical evidence for improving clinical outcomes.Methods Convenience sampling method was used to select 555 HIV-infected/AIDS patients who received treatment in the designated AIDS treatment clinic of a hospital.General data,disease acceptance,disease self-management efficacy and clinical out-comes(such as quality of life,CD4+T lymphocyte count and HIV viral load)of the studied subjects were collected.Results The average disease acceptance of HIV-infected/AIDS patients was(26.08±5.34)points.Multiple linear regression analysis showed that religious belief and self-management efficacy were related factors affecting the di-sease acceptance of patients(both P＜0.05),which could explain the 30.4％variation in disease acceptance of HIV-infected/AIDS patients,and the disease acceptance of patients was closely related to their quality of life(P＜0.001).Conclusion HIV-infected/AIDS patients have a moderate level of disease acceptance.Medical staff should fully consider patients'religious beliefs and self-management efficacy,so as to formulate targeted intervention mea-sures to improve patients'acceptance of disease,and further promote patients'quality of life.

Objective:To summarize the clinical manifestations, electrophysiological, muscle magnetic resonance imaging (MRI), pathological, and genetic characteristics of 8 patients with Emery-Dreifuss muscular dystrophy (EDMD) to improve the recognition and diagnosis of EDMD.Methods:Eight patients with EDMD confirmed by gene analysis admitted to Hebei Medical University Third Hospital from 2011 to 2022 were enrolled. The detailed clinical symptoms, neurophysiological examination, electrophysiological changes (electromyography and electrocardiography), skeletal muscle MRI characters, skeletal muscle pathological features and gene mutations were analyzed retrospectively.Results:The age of onset ranged from 2.0 to 6.0 (3.6±1.2) years. All patients had insidious onset and progressive development. Muscle weakness was the first symptom for 7 cases that manifested as difficulty in squatting and walking up stairs. Later, spinal ankylosis and joint contracture occurred. One patient had scoliosis as the first symptoms. Abnormal electrocardiogram was found in 4 cases. The electromyography of all patients showed myogenic damage. Muscle biopsy demonstrated dystrophic features in 1 patient, and other myopathic features, including a variation in muscle fiber size, a marked increase in internal nuclei, and, smaller diameter of typeⅠfibers. Next-generation sequencing result showed that 6/8 cases carried 4 LMNA heterozygous mutations (c.1583C>G, c.1357C>T, c.148C>T, c.1336A>G); 1/8 case carried EMD hemizygous mutation (c.501C>G); 1/8 carried SYNE1 heterozygous mutation (c.4364G>A). Conclusions:EDMD has highly clinical and genetical heterogeneity. The onset age is usually in childhood. The first symptom is characterized by weakness of lower limbs and abnormal walking posture. Electromyography shows myogenic lesion. Skeletal muscle MRI shows selective fat infiltrations. Muscle biopsy pathology lacks characteristic pathological findings. It is difficult to make diagnosis and differential diagnosis by clinical manifestations and auxiliary examination in the early stage of the disease. The second generation sequencing technology can improve the early diagnosis rate of EDMD.

Humans ; Female ; Clinical Relevance ; Cytology ; Early Detection of Cancer ; Uterine Cervical Neoplasms

Objective: Several COVID-19 patients have overlapping comorbidities. The independent role of each component contributing to the risk of COVID-19 is unknown, and how some non-cardiometabolic comorbidities affect the risk of COVID-19 remains unclear. Methods: A retrospective follow-up design was adopted. A total of 1,160 laboratory-confirmed patients were enrolled from nine provinces in China. Data on comorbidities were obtained from the patients' medical records. Multivariable logistic regression models were used to estimate the odds ratio ( Results: Overall, 158 (13.6%) patients were diagnosed with severe illness and 32 (2.7%) had unfavorable outcomes. Hypertension (2.87, 1.30-6.32), type 2 diabetes (T2DM) (3.57, 2.32-5.49), cardiovascular disease (CVD) (3.78, 1.81-7.89), fatty liver disease (7.53, 1.96-28.96), hyperlipidemia (2.15, 1.26-3.67), other lung diseases (6.00, 3.01-11.96), and electrolyte imbalance (10.40, 3.00-26.10) were independently linked to increased odds of being severely ill. T2DM (6.07, 2.89-12.75), CVD (8.47, 6.03-11.89), and electrolyte imbalance (19.44, 11.47-32.96) were also strong predictors of unfavorable outcomes. Women with comorbidities were more likely to have severe disease on admission (5.46, 3.25-9.19), while men with comorbidities were more likely to have unfavorable treatment outcomes (6.58, 1.46-29.64) within two weeks. Conclusion Besides hypertension, diabetes, and CVD, fatty liver disease, hyperlipidemia, other lung diseases, and electrolyte imbalance were independent risk factors for COVID-19 severity and poor treatment outcome. Women with comorbidities were more likely to have severe disease, while men with comorbidities were more likely to have unfavorable treatment outcomes.
Adult ; Aged ; COVID-19/virology* ; China/epidemiology* ; Comorbidity ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Severity of Illness Index ; Treatment Outcome

BACKGROUND: Irritable bowel syndrome (IBS) is reported associated with the alteration of gut microbial composition termed as dysbiosis. However, the pathogenic mechanism of IBS remains unclear, while the studies of Chinese individuals are scarce. This study aimed to understand the concept of dysbiosis among patients with Chinese diarrhea-predominant IBS (IBS-D), as a degree of variance between the gut microbiomes of IBS-D population and that of a healthy population. METHODS: The patients with IBS-D were recruited (assessed according to the Rome III criteria, by IBS symptom severity score) from the Outpatient Department of Gastroenterology of Peking University Third Hospital, and volunteers as healthy controls (HCs) were enrolled, during 2013. The 16S rRNA sequences were extracted from fecal samples. Ribosomal database project resources, basic local alignment search tool, and SparCC software were used to obtain the phylotype composition of samples and the internal interactions of the microbial community. Herein, the non-parametric test, Wilcoxon rank-sum test was carried out to find the statistical significance between HC and IBS-D groups. All the P values were adjusted to q values to decrease the error rate. RESULTS: The study characterized the gut microbiomes of Chinese patients with IBS-D, and demonstrated that the dysbiosis could be characterized as directed alteration of the microbiome composition leading to greater disparity between relative abundance of two phyla, Bacteroidetes (Z = 4.77, q = 1.59 × 10) and Firmicutes (Z = -3.87, q = 5.83 × 10). Moreover, it indicated that the IBS symptom features were associated with the dysbiosis of whole gut microbiome, instead of one or several certain genera even they were dominating. Two genera, Bacteroides and Lachnospiracea incertae sedis, were identified as the core genera, meanwhile, the non-core genera contribute to a larger pan-microbiome of the gut microbiome. Furthermore, the dysbiosis in patients with IBS-D was associated with a reduction of network complexity of the interacted microbial community (HC vs. IBS-D: 639 vs. 154). The disordered metabolic functions of patients with IBS-D were identified as the potential influence of gut microbiome on the host (significant difference with q < 0.01 between HC and IBS-D). CONCLUSIONS This study supported the view of the potential influence of gut microbiome on the symptom of Chinese patients with IBS-D, and further characterized dysbiosis in Chinese patients with IBS-D, thus provided more pathological evidences for IBS-D with the further understanding of dysbiosis.
Diarrhea ; microbiology ; Dysbiosis ; microbiology ; Feces ; microbiology ; Gastrointestinal Microbiome ; genetics ; Humans ; Irritable Bowel Syndrome ; microbiology ; Models, Theoretical ; RNA, Ribosomal, 16S ; genetics

To explore the regularity of traditional Chinese patent medicines for the treatment of hyperlipidemia recorded in Newly Edited National Chinese Traditional Patent Medicines,the Composition Principles of Chinese Patent Drugs,New Drug Conversion Standard,the Compilation of National Standard for Traditional Chinese Medicines and Chinese Pharmacopoeia. Researchers extracted the information of prescriptions from these cases according to the inclusion and exclusion criteria. Then microsoft excel 2010 was used to conduct frequency statistics and count the frequency of traditional Chinese medicine. SPSS Clementine( ver.12. 0) and SPSS( ver. 18. 0)were adopted respectively for frequency analysis,association rules analysis,cluster analysis and factor analysis. Besides,KMO test and Bartlett spherical test were performed for factor adaptation test. Finally,a total of 173 traditional Chinese medicines were included,involving 94 Chinese patent medicine prescriptions. The frequency results of traditional Chinese medicine showed that there were 33 kinds of high-frequency traditional Chinese medicine,mainly including those for tonifying medicine,activating blood and resolving stasis and blood-stasis,and clearing damp. The association rules analysis found out 12 association rules of drug pairs,3-herb pairs of 25 and4-herb pairs of 6. Totally 11 medicine groups with relevance were respectively extracted by cluster analysis. KMO test and Bartlett spherical test indicated that the method was suitable for factor analysis and 11 common factors were respectively extracted by factor analysis. The association rules reflected the therapeutic method for tonify the liver and kidney,activating blood and resolving stasis. Cluster analysis and factor analysis showed the therapeutic method of Qi-enriching and Yin-nourishing,and the factor analysis focused more on removing blood stasis and dampness. The decision tree with hawthorn as the dependent variable reflects the importance of alisma orientalis and fructus schisandrae in the drug matching. In conclusion,data mining technique can comprehensively analyze the regularity of prescriptions of traditional Chinese patent medicine for hyperlipidemia,and is helpful for guiding the development of Chinese patent medicines and the clinical practice of traditional Chinese medicine.
Drug Prescriptions ; Drugs, Chinese Herbal ; Humans ; Hyperlipidemias ; Medicine, Chinese Traditional ; Nonprescription Drugs

OBJECTIVECombining K-line (the connecting line of the midpoint of C₂ and C₇ spinal canal on the cervical lateral X-ray film) to analyze the relationship between cervical range of motion of patients with ossification of posterior longitudinal ligament (OPLL) and surgical prognosis.

METHODSA total 42 patients with ossification of cervical posterior longitudinal ligament underwent cervical posterior single open-door laminoplasty between April 2014 and March 2017 were retrospectively ananyzed. The patients were dividing into K-line (+) group and K-line (-) group according to the position realationship of OPLL and K-line. The lesion of ossification of the posterior longitudinal ligament was not over than the K-line known as K-line (+). Conversely, the lesion of ossification of the posterior longitudinal ligament crossing the K-line was called K-line (-). Preoperative and postoperative 3 months JOA scores were observed, and postoperative 3 months JOA improvement rate were computed to assess patient's neurological function recovery. Preoperation and postoperative 3 months, OPLL occupation ratio (OOR), cervical lordotic angles (CLA) and cervical lordotic value (CLV) were measured respectively. The realationship between postoperative neurologic functional recovery in patients of CLV>0 group and CLV<=0 group was evaluated in different K-line subgroups.

RESULTSFor the patients in K (+) group and K (-) group, preoperative CLA were (14.7±9.6)° and (-6.4±9.5)°(<0.05) respectively, postoperative at 3 months CLA were (14.0±8.0)° and (-1.4±10.4)°(<0.05) respectively; preoperative JOA scores were 10.9±3.2 and 11.2±2.5 (>0.05) respectively, postoperative at 3 months JOA scores were 14.2±1.8 and 12.6±2.2 (<0.05) respectively, and postoperative at 3 months JOA score improvement rate were (54.7±17.6)% and (25.5±15.7)%(<0.05) respectively. In the K-line (+) group, there were 29 patients in CLV>0 group at 3 months after operation, with improvement rate of (52.3±17.2)%, and 4 patients in CLV<=0 group, with improvement rate of (72.2±7.8)%. The improvement rate of the patients in CLV<=0 group was significantly better than that of the patients in CLV>0 group (<0.05).

CONCLUSIONSNo matter whether the ossification of cervical posterior longitudinal ligament was classified as K-line (+) or K-line (-), the cervical posterior single open-door laminoplasty can improve the neurological symptoms of patients, especially the patients in the K-line(+) group with better prognosis. The patinets in K-line(+) group, when postoperative at 3 months CLV>0, their improvement rate was lower than that of the patients with postoperative at 3 months CLV<=0.

AIM:To describe the outcomes of corneal stromal lenticules in repairing of corneal ulcer and/or perforation.METHODS:This was a retrospective chart review of 6 eyes of 6 patients from January to June 2017,who underwent corneal ulcer repair with the corneal,stromal lenticules harvested from femtosecond laser refractive surgery and kept in pure glycerin for use.Three cases of infectious corneal ulcers were bacterial,fungal,and infection with foreign bodies in corneal deep layer,one each.The other 3 were corneal ulcer perforation.Making sure no air bubble between donor graft and Descemet membrane.The mean follow-up time was 3.71 ±1.56mo (range 1-6mo).RESULTS:All eyes were successfully treated under control of infection without intra-operative complications,and early postoperative evaluation showed a clear graft in all cases.The last follow-up visit showed the mean best corrected visual acuity (VA) significantly improved after surgery.There was significant difference from 0.48±0.12 to 1.50±0.08 (P＜0.01).CONCLUSION:The preliminary results suggest that the use of corneal stromal lenticules may be a safe and effective surgical alternative for corneal ulcer,even though the long-term outcome of the graft needs to be further observed.