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Background: This study investigated the factors influencing the prognosis of children with steroid-resistant nephrotic syndrome (SRNS) in patients from the Guangxi region. Methods: We retrospectively analyzed clinical and pathological data of 279 patients with SRNS from six tertiary hospitals in Guangxi. Clinical data were compared between initial (I-SRNS) and secondary (S-SRNS) steroid resistance subgroups and Cox regression analysis was used to determine risk factors for chronic kidney disease (CKD) and CKD stage 5 (CKD5) in patients with SRNS. Results: The median age of onset was 54 months. Thirty-three patients had extra-kidney manifestations. Fifty-two, 24, 57, 33, and 41 patients had hypertension, acute kidney injury, vitamin D deficiency, high intraocular pressure, and dwarfism, respectively. One hundred eighty-two and 92 patients had I-SRNS and S-SRNS, respectively. There were significant differences in sex, ethnicity, family history, incidence of hematuria, clinical classification, efficacy of immune agents, and prognosis between groups (P < 0.05). Among the 279 cases of SRNS, 239 had normal kidney function, 37 developed CKD, and 16 had CKD5. An increase in serum creatinine level (HR = 1.003) was significantly associated with CKD in children with SRNS, and effective immunosuppressant therapy decreased the CKD risk (HR = 0.168). Patients with increased serum creatinine levels (HR = 1.003) and acute kidney injury (HR = 4.829) were more likely to progress to CKD5. Conclusions: Children with S-SRNS showed a higher response to immunosuppressants than those with I-SRNS. Effective immunosuppressant therapy was found to protect against CKD, whereas increased acute kidney injury was an independent risk factor for CKD5. [ABSTRACT FROM AUTHOR]

Aim: Tuberculous meningitis is an infectious disease of the central nervous system caused by Mycobacterium tuberculosis (M. tuberculosis). It mainly involves the meninges and brain parenchyma, as well as the spinal cord and meninges; Disability and mortality rates are high. In recent years, due to the increase of drug-resistant tuberculosis patients, population mobility and the prevalence of acquired immune deficiency syndrome, the incidence rate of tuberculosis has increased significantly, and tuberculous meningitis has also increased. Methods: At present, tuberculosis is still a worldwide infectious disease that seriously threatens human health, especially in underdeveloped and developing countries. China is the largest developing country in the world with a large population. Results: The situation of tuberculosis prevention and control is grim. Its disability rate is the highest in tuberculosis infection. In addition to the common non-specific manifestations, tuberculous meningoencephalitis may also have rare manifestations of stroke, hearing loss and visual loss. Conclusion: Understanding and timely improvement of corresponding examinations and targeted treatment will help improve the prognosis of patients. [ABSTRACT FROM AUTHOR]

The common human coronaviruses (HCoVs) HCoV-229E, HCoV-OC43, HCoV-NL63, and HCoV-HKU1 which are members of the coronavirus family are long co-existed with humans and widely distributed globally. Common HCoVs usually cause mild, self-limited upper respiratory tract infections (URTI), and also associated with lower respiratory tract infections (LRTI), especially in children. However, there are little multicentre studies have been conducted in children of several different areas in China, and the epidemic potential of common HCoVs remains unclear. Understanding of the common HCoVs is valuable for clinical and public health. Herein, we retrospectively analysed the medical records of children with acute lower respiratory tract infection admitted to 9 hospitals from different regions in China from 2014 to 2019. Of the 124 patients who tested positive for coronaviruses, OC43 was the predominant type, accounting for 36.3% (45/124) of the detections. Children aged ≤ 6 months and 12–23 months had the highest detection rate of common HCoVs, and the detection rate gradually declined after 2 years old. These four HCoVs could be detected all year round. Among the areas of our study, the overall positive rate was higher in southern China, especially in Guangzhou (29/124, 23.4%). Moreover, common HCoV-positive patients were codetected with 9 other common respiratory pathogens. 229E (11/13, 84.6%) was the most frequently associated with codetection, with EV/RhV was the most frequently codetected virus. Cough (113/124, 91.1%) and fever (73/124, 58.9%) were the most common symptoms of common HCoVs infection. [ABSTRACT FROM AUTHOR]

Background: Clinical data on patients infected with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) delta variant are limited, especially on clinical status after the application of antibody therapy. Methods: We evaluated clinical status in patients with the SARS-CoV-2 delta variant after BRII-196 and BRII-198 treatment in an infectious disease hospital in China. We collected data on clinical symptoms, laboratory tests, radiological characteristics, viral load, anti-SARS-CoV-2 antibodies, treatment, and outcome. Results: In mid-June 2021, 36 patients with delta variant infection were identified in Shenzhen. The most common symptoms at illness onset were cough (30.6%), fever (22.2%), myalgia (16.7%), and fatigue (16.7%). A small number of patients in this study had underlying diseases, including diabetes (5.6%) and hypertension (8.3%). The application of BRII-196 and BRII-198 can rapidly increase anti-SARS-CoV-2 IgG. The median peak IgG levels in the antibody treatment group were 32 times higher than those in the control group (P < 0.001). The time from admission to peak IgG levels in the antibody treatment group (mean: 10.2 days) was significantly shorter than that in the control group (mean: 17.7 days). Chest CT score dropped rapidly after antibody therapy, with a mean duration of 5.74 days from admission to peak levels. Conclusion: The results of this study suggest that the application of BRII-196 and BRII-198 antibody therapy improved clinical status in patients with SARS-CoV-2 delta variant infection. [ABSTRACT FROM AUTHOR]

Precise genotyping is necessary to understand epidemiology and clinical manifestations of Chlamydia trachomatis infection with different genotypes. Next-generation high-throughput sequencing (NGHTS) has opened new frontiers in microbial genotyping, but has been clinically characterized in only a few settings. This study aimed to determine C. trachomatis genotypes in particular mixed-genotype infections and their association with clinical manifestations and to characterize the sensitivity and accuracy of NGHTS. Cervical specimens were collected from 8,087 subjects from physical examination center (PEC), assisted reproductive technology center (ART) and gynecology clinics (GC) of Chenzhou Hospital of China. The overall prevalence of C. trachomatis was 3.8% (311/8087) whereas a prevalence of 2.8, 3.7 and 4.8% was found in PEC, ART and GC, respectively. The most frequent three C. trachomatis genotypes were E (27.4%, 83/303), F (21.5%, 65/303) and J (18.2%, 55/303). Moreover, NGHTS identified 20 (6.6%, 20/303) mixed-genotype infections of C. trachomatis. Genotype G was more often observed in the subjects with pelvic inflammatory disease than genotype E (adjusted OR=3.61, 95%C/, 1.02-12.8, p = 0.046). Mixed-genotype infection was associated with severe vaginal cleanliness (degree IV) with an adjusted OR of 5.17 (95%Q 1.03-25.9, p = 0.046) whereas mixed-genotype infection with large proportion of minor genotypes was associated with cervical squamous intraepithelial lesion (SIL) with an adjusted OR of 5.51 (95%C 1.17-26.01, p = 0.031). Our results indicated that NGHTS is a feasible tool to identity C. trachomatis mixed-genotype infections, which may be associated with worse vaginal cleanliness and cervical SIL. [ABSTRACT FROM AUTHOR]

Background: Pulmonary embolism (PE) is a common and potentially fatal disease, with differences in mortality rates among PE patients of different sexes. This study aims to investigate the disparities in clinical manifestations and in-hospital mortality rates between sexes in PE patients, as well as the association of clinical symptoms with in-hospital mortality., Methods: We analyzed data from the China pUlmonary thromboembolism REgistry Study (CURES), a nationwide, multicenter, prospective registry focusing on patients with acute PE. Using propensity score matching (PSM) to pair male and female patients with PE, we explored the correlation between clinical symptoms and in-hospital mortality through multivariable regression analysis., Results: A total of 15,203 patients with acute PE were enrolled, and 380 died during hospitalization. The incidence of chest pain, hemoptysis, and palpitations was significantly higher in males compared to females. The incidence of dyspnea, fever, and syncope was higher in females. Hemoptysis and dyspnea were associated with increased in-hospital mortality in males, whereas dyspnea, fever, and palpitations were linked to higher mortality in females. Overall, males exhibited a higher in-hospital mortality than females (2.9 % vs. 2.1 %, p = 0.002). After matching 13,130 patients using the PSM method, the mortality rate of males remained higher than that of females (2.7 % vs. 2.1 %, p = 0.020)., Conclusions: Our study demonstrates that male patients with PE have a higher risk of in-hospital mortality than females. Significant differences in clinical symptoms between sexes are associated with increased mortality risk, emphasizing the need for clinical awareness., Competing Interests: Declaration of competing interest The authors declare no competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier Ltd.)

Copyright of Chinese Journal of Contemporary Pediatrics is the property of Xiangya Medical Periodical Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background/aim: The lipid storage myopathy (LSM) diagnosis is based on the patient's clinical manifestations and muscle pathology. However, when genetic testing is lacking, there is a high rate of misdiagnosis of the disease. This study aimed to investigate the clinical and pathological features of genetically diagnosed LSM in northern China, analyze genetic mutations' characteristics, and improve the LSM diagnostic rate. Materials and methods: Twenty patients with LSM diagnosed were collected; meanwhile, the clinical data, muscle samples, and routine pathological staining of muscle specimens were collected. The morphological changes of muscle fibers were observed under an optical microscope. Results: Among the included patients, 18 cases had ETFDH (HGNC ID: 3483) mutations, and two had PNPLA2 mutations. Family pedigree verification was performed on three patients with heterozygous mutations in the ETFDH gene complex. Histopathological staining showed that all patients had fine vacuoles in the muscle fibers, and some of them merged to form fissures, and the lipid droplets increased in cells. After therapy, 18 patients were associated with a favorable prognosis, and two patients were ineffective with the treatment of neutral lipid storage myopathy (NLSDM) caused by PNPLA2 mutation. Conclusion: The clinical manifestations of LSM are complex and diverse, mainly manifested by proximal muscle weakness and exercise intolerance in the extremities. The pathological images of LSM muscles are abnormal storage of lipid droplets in muscle fibers, primarily involving type I fibers. The LSM patients were mainly multiple acyl-CoA dehydrogenase deficiency (MADD) caused by the ETFDH gene mutation. It is necessary to perform an accurate typing diagnosis of LSM. [ABSTRACT FROM AUTHOR]

Background: Oseltamivir resistance in influenza virus (IFV) has been of widespread concern. An increase in the frequency of viruses with reduced inhibition was observed. Whether oseltamivir is effective is uncertain. We conducted this study to understand the real-world situation in northern China and the clinical efficacy for patients with IFV infection after the use of oseltamivir. Methods: The longitudinal study was performed on influenza-like illness (ILI) cases in a tertiary general hospital in Beijing, China during the flu season of 2018–2019. All ILI cases (≥18 years) were recruited into the study. We analyzed the effect of the oseltamivir therapy on the number of clinic visits, hospitalization frequency, and the duration of fever and cough. Results: A total of 689 ILI patients were recruited in this study with 355 in the oseltamivir therapy group and 334 in the supportive therapy group. Among the ILI patients, 388 patients were detected for IFV infection (364 IFV-A and 24 IFV-B) and divided into two groups with or without the oseltamivir therapy (302 vs. 86). There were no significant differences in the basic characteristics between the oseltamivir and supportive therapy groups in the ILI patients or in the IFV positive patients (all p < 0.05). After adjusting for the potential confounders, oseltamivir therapy reduced the times of clinic visits in the ILI and IFV positive patients (p = 0.043 and p = 0.011). No effectiveness with oseltamivir therapy was observed in the outcomes of hospitalization frequency, and the duration of fever and cough. Conclusion: Oseltamivir use may reduce the times of clinic visits. However, we did not observe the differences in the duration of fever, cough, and the frequency of hospitalization between oseltamivir therapy and supportive therapy. [ABSTRACT FROM AUTHOR]

Objectives: Behçet's syndrome (BS) is a rare disease of unknown etiology, with limited reports especially in pediatric BS. The clinical characteristics and phenotypes of pediatric BS as a highly heterogeneous variable vessel vasculitis were investigated in this study., Methods: A cross-sectional study was conducted to compare clinical variables and descriptive characteristics of BS by age of onset and gender. Cluster analysis was then performed to identify the phenotypes of pediatric BS., Results: A total of 2082 BS patients were included in this study, 1834 adults and 248 children. Compared with adult-onset BS, pediatric BS had a higher incidence of folliculitis [relative risks (RR) and 95% confidence interval (CI) 1.3 (1.0-1.5)], uveitis of the left eye [RR and 95% CI 2.3 (1.0-5.0)], intestinal ulcer complications [RR and 95% CI 2.1 (1.1-4.2)], pericarditis [RR and 95% CI 2.5 (1.0-6.2)], and psychiatric disorders [RR and 95% CI 2.8(1.0-7.9)], while the incidence of thrombocytopenia was lower [RR 0.2 (0.1-1.0)]. Among pediatric BS, females had more genital ulcers, while males were more likely to have skin lesions, panuveitis, vascular involvement, venous lesions, cardiac involvement, and aortic aneurysms. Cluster analysis classified pediatric BS into five clusters (C1-C5): C1 (n = 61, 24.6%) showed gastrointestinal (GI) involvement; C2 (n = 44, 17.7%) was the central nervous system (CNS) type where 23 cases overlapped joint involvement; in C3 (n = 35, 14.1%), all patients presented with arthritis or arthralgia; all patients in C4 (n = 29, 11.7%) manifested ocular involvement, with a few patients overlapping with GI involvement or joint damage; C5 (n = 79, 31.9%) was the mucocutaneous type, presenting both oral ulcers, genital ulcers, and skin lesions., Conclusions: The clinical features of pediatric and adult BS differ significantly. Male and female pediatric BS also have a distinct demography. Five phenotypes including GI, CNS, joint, ocular, and mucocutaneous types were identified for pediatric BS., (© 2024. The Author(s).)

Copyright of Chinese Journal of Contemporary Pediatrics is the property of Xiangya Medical Periodical Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objectives: To evaluate the demographics, clinical aspects, and major organ involvement of patients with late-onset Behçet's syndrome (BS) in a tertiary center in China. Methods: We conducted a cross-sectional study of consecutive BS patients in Huadong Hospital of Fudan University from September 2012 to January 2020. We compared clinical variables between patients with disease onset before and after 40 years of age. The relative risks (RRs) of clinical variables were calculated between the two age groups. Moreover, a hierarchical cluster analysis was conducted according to 29 variables to determine homogeneous subgroups in patients with late-onset BS. Results: We enrolled 152 late-onset BS patients, with a median age at onset of 47 years (interquartile range, IQR: 43–52 years). There is a higher prevalence of intestinal ulcers in late-onset BS than in early-onset BS (RR 1.47), but a lower prevalence of ocular involvements (RR 0.54) and folliculitis (RR 0.46). Female sex was associated with genital ulcers, erythema nodosum, and arthritis. Four clusters (C1–C4) were formed. C1 (n = 71), the largest cluster, was defined as the mucocutaneous group, C2 (n = 20) as the arthritis group, C3 (n = 39) as the gastrointestinal group, in which all patients presented with intestinal lesions, and five cases with esophageal ulcers. In C4 (n = 22), showing a mixture of uveitis and vascular lesions, 15 patients presented with uveitis and 8 had vascular lesions, and 1 case had central nervous system lesions. Conclusion: Four phenotype clusters were identified. Patients with skin lesions comprised the largest cluster, while gastrointestinal, panuveitis, and cardiovascular clusters are the most commonly involved organs in late-onset BS patients. Key Points • Our analysis demonstrated the phenotype discrepancy between early and late onset groups. • Four phenotype clusters were identified, with gastrointestinal, panuveitis and cardiovascular clusters representing commonly involved organs. [ABSTRACT FROM AUTHOR]

Introduction: Accurate identification of the etiology of orthopedic infection is very important for correct and timely clinical management, but it has been poorly studied. In the current study we explored the association of multiple bacterial pathogens with orthopedic infection., Methods: Hospitalized orthopedic patients were enrolled in a rural hospital in Qingdao, China. Wound or exudate swab samples were collected and tested for twelve bacterial pathogens with both culture and multiplex real time PCR., Results and Discussion: A total of 349 hospitalized orthopedic patients were enrolled including 193 cases presenting infection manifestations upon admission and 156 with no sign of infection. Orthopedic infection patients were mainly male (72.5%) with more lengthy hospital stay (median 15 days). At least one pathogen was detected in 42.5% (82/193) of patients with infection while 7.1% (11/156) in the patients without infection ( P < 0.001). S. aureus was the most prevalent causative pathogen (15.5%). Quantity dependent pathogen association with infection was observed, particularly for P. aeruginosa and K. pneumoniae , possibly indicating subclinical infection. Most of the patients with detected pathogens had a previous history of orthopedic surgery (odds ratio 2.8, P = 0.038). Pathogen specific clinical manifestations were characterized. Multiplex qPCR, because of its high sensitivity, superior specificity, and powerful quantification could be utilized in combination with culture to guide antimicrobial therapy and track the progression of orthopedic infection during treatment., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Wang, Xia, Wang, Cui, Yu, Liu, Zhao, Guan, Wang, Wu, Li, Li, Hu and Liu.)

Background: Blastocystis is a common enteric parasite of controversial pathogenic roles in human diseases. Although the prevalence of Blastocystis infections has been investigated in a diverse range of populations, there is little knowledge on the molecular epidemiology and risk factors of Blastocystis infections among general populations in southeastern China. Materials and Methods: A total of 507 individuals were randomly selected in Yunnan province, China from July 2016 to March 2017. Stool specimens were sampled for detection of Blastocystis sp. using PCR assay, and the risk factors of Blastocystis infections were identified. Blastocystis isolates were subtyped, and the associations of Blastocystis infections and subtypes with clinical manifestations were examined. Results: The overall detection rate of Blastocystis sp. was 9.47% (95% CI: 7.13– 12.44%). Toilet type (OR = 3.248, 95% CI: 1.245– 8.473), anemia (OR = 2.601, 95% CI: 1.245– 8.473) and type of daily drinking water (OR = 3.11, 95% CI: 1.557– 6.213) were identified as risk factors of Blastocystis infections; however, Blastocystis infections showed no associations with clinical symptoms. Four subtypes (ST1 to ST4) were characterized in Blastocystis isolates, in which ST3 was predominant (4.73%, 95% CI: 3.2– 6.94%), followed by ST1 (3.16%, 95% CI: 1.95– 5.07%), ST4 (1.38%, 95% CI: 0.07– 2.82%) and ST2 (0.2%, 95% CI: 0– 1.11%). In addition, ST1 subtype infection was found to correlate with anemia (OR = 4.66, 95% CI: 1.631– 14.314). Conclusions: There is a high prevalence of Blastocystis infections among general populations in Yunnan province, southwestern China, and toilet type, anemia and type of daily drinking water are risk factors of Blastocystis infections. ST3 is the dominant subtype of Blastocystis sp. characterized, and ST1 correlates with anemia. Improving hygiene conditions, developing healthy lifestyles and intensifying health education programs are strongly recommended to reduce the prevalence and transmission potential of Blastocystis infections. [ABSTRACT FROM AUTHOR]

A retrospective analysis of the phenotypic characteristics, clinical manifestations, investigations and interleukin-10 receptor (IL-10R) status of inflammatory bowel disease (IBD) in infants and children under 2 years of age in Liaoning Province, China between January 2015 and October 2016 is described. Six patients without a family history of IBD were diagnosed with Crohn disease, and IL-10R mutations were detected in five of them. Compound heterozygous patients with IL-10R mutations had severe clinical manifestations, were resistant to standard medication for IBD and had a poor prognosis as haematopoietic stem cell transplantation (HSCT) was not undertaken. Two of these patients died of suspected septicaemia. IBD in infants and children under 2 years of age is life-threatening when patients with IL-10R mutations do not receive allogeneic HSCT. [ABSTRACT FROM AUTHOR]

BACKGROUND: Tracheobronchopathia osteochondroplastica (TO) consists of benign lesions of tracheal and bronchial mucosa with multiple nodular hyperplasia of bone or cartilage protruding into the lumen. METHODS: We diagnosed 73 subjects with TO with the use of bronchoscopy in the Department of Respiratory and Critical Care Medicine of Xiangya Hospital between January 2000 and April 2017. Clinical manifestations, radiographic characteristics, bronchoscopic manifestations, histopathological findings, and treatments were analyzed retrospectively. RESULTS: Subjects included 30 women and 43 men (mean age, 52.8 ± 11.7 y). Twenty-seven subjects were diagnosed with other diseases, including tuberculosis in 11 subjects, carcinoma in 13, bronchiectasis in 2, and pulmonary hamartomas in 1 subject. The most common symptom was cough (n = 34). Other initial manifestations included hemoptysis (n = 17), expectoration (n = 15), and chest pain (n = 8). Of those who underwent a computed tomography scan in our hospital, 28 of 32 subjects had noted calcification of the tracheal wall, with 4 of 32 subjects appearing normal. Bronchoscopy revealed typical accumulation of diffuse cartilaginous and osseous nodules of TO, and 9 had observable tracheal stenosis. Histopathologic results included the presence of chronic inflammation (n = 47), ossification (n = 38), and cartilage formation (n = 10). Most subjects received symptomatic treatment, although 3 subjects with severe airway obstruction received bronchoscopic treatment. CONCLUSION: The results indicated that TO lacks clinical specificity, which means that special therapy and bronchoscopy with histopathological and radiographic assistance is important for its diagnosis. The treating physicians' awareness about this condition is also important to its diagnosis and management. [ABSTRACT FROM AUTHOR]

Objectives: This study aims to describe the clinical manifestations, laboratory abnormalities, and therapeutic responses of neuropsychiatric systemic lupus erythematosus (NPSLE) among Chinese population. Patients and methods: We retrospectively reviewed the medical records of 1,772 patients, who suffered from systemic lupus erythematosus (SLE) admitted to the Department of Rheumatology of Shanghai Renji Hospital between January 1999 and December 2011. Seventy-six patients were diagnosed with NPSLE. Demographic characteristics of the patients and clinical manifestations were analyzed and laboratory abnormalities were recorded. Results: These patients had not only common SLE symptoms, but also 14 types of neuropsychiatric (NP) presentations. Proteinuria (61%), fever (55%), and infection (47%) were frequent SLE-related symptoms, while seizure (47%), delirium (26%), and headache (18%) were frequently seen NP presentations. These patients also presented abnormal laboratory tests, including positive antinuclear antibodies (78%), low levels of serum complement-3 (76%), abnormal erythrocyte sedimentation rate (68%), and higher levels of serum immunoglobulin G (59%) as well as abnormal cranial magnetic resonance imaging findings (58%). Following treatment with corticosteroids, immunosuppressants, anti-epileptics, and antipsychotics, 53 patients survived and most of them had no NP-related sequels. Conclusion: Patients with NPSLE may display various clinical manifestations and laboratory abnormalities. These patients can be effectively treated with corticosteroids and immunosuppressants. [ABSTRACT FROM AUTHOR]

Objective: To observe the clinical characteristics of mild and common COVID-19 patients infected with the Omicron variant, and to analyze related factors affecting the time to negative conversion of viral nucleic acid detection., Methods: Clinical data of 1781 patients with coronavirus disease 2019 (COVID-19) admitted to a cabin hospital in Shanghai from April 12 to May 26, 2022, were retrospectively analyzed, including age, gender, height, weight, clinical symptoms, comorbid diseases, COVID-19 vaccination, treatment, and nucleic acid negative conversion time. Univariate and multivariate logistic regression analyses were used to analyze the influencing factors of nucleic acid negative conversion time., Results: Among the 1781 patients, 995 were male and 786 were female, with a median age of 39 (30, 52) years. There were 727 patients (40.8%) with overweight and obesity [body mass index (BMI) > 24 kg/cm 2 ) and 413 patients (23.2%) had comorbid diseases. 205 cases (11.5%) were not vaccinated while 1576 cases were vaccinated. There were 1233 cases (69.2%) with one or more symptoms. The main clinical symptoms were cough (60.3%), expectoration (50.4%) and fever (36.9%). 1444 cases (81.0%) were treated with Chinese medicine, 78 cases (4.4%) were treated with western medicine, 14 cases (0.8%) were treated with integrated Chinese and western medicine, and 245 cases (13.8%) did not receive any medical treatment. All patients improved and were discharged. The median nucleic acid negative conversion time was 10.3 (7.4, 12.4) d. Univariate and multivariate analysis showed that, age ≥ 60 years ( OR ＝1.537, 95% CI : 1.116 - 2.115, P <0.01), BMI > 24 kg/cm 2 ( OR ＝1.344, 95% CI : 1.106 - 1.634, P <0.01 ) and hypertension ( OR ＝1.518, 95% CI : 1.094 - 2.106, P <0.05) were independent risk factors for prolonged nucleic acid negative conversion. COVID-19 vaccination ( OR =0.548, 95% CI : 0.398 - 0.755, P <0.01) was a protective factor, that is, vaccination shortened the time for the nucleic acid test to become negative., Conclusions: The symptoms of the Omicron variant infection were relatively mild and occult. Age ≥ 60 years old, comorbid hypertension, no vaccination and BMI > 24 kg/cm 2 are independent influencing factors for prolonged nucleic acid negative conversion.

Purpose: Alström Syndrome (AS) is an autosomal recessive hereditary disease with the characteristics of multiorgan dysfunction. Due to the heterogeneity of clinical manifestations of AS, genetic testing is crucial for the diagnosis of AS. Herein, we used whole-exome sequencing (WES) to determine the genetic causes and characterize the clinical features of three affected patients in two Chinese families with Alström Syndrome., Materials and Methods: Three affected patients (initially diagnosed as achromatopsia). and five asymptomatic members were recruited for both genetic and clinical tests. The complete ophthalmic examinations and systemic examinations were performed on all participants. Whole exome sequencing (WES) was performed for mutation detection. The silico analysis was also applied to predict the pathogenesis of identified pathogenic variants., Results: In family 1, the proband showed low vision, hyperopia, photophobia, nystagmus, and total color blindness. DNA analysis revealed that she carried a compound heterozygote with two novel pathogenic variants in the ALMS1 gene NM&#95;015120.4:c.10379del (NP&#95;055935.4:p.(Asp2252Tyr)) and NM&#95;015120.4:c.11641&#95;11642del (NP&#95;055935.4:p.(Val3881ThrfsTer11)). Further systemic examinations showed short stature, acanthosis nigricans, and sensorineural hearing loss. In family 2, two affected siblings presented the low vision, hyperopia, photophobia, nystagmus, and total color blindness. DNA analysis revealed that they carried a same compound heterozygote with two novel pathogenic variants in the ALMS1 gene NM&#95;015120.4:c.10379del (NP&#95;055935.4:p.(Asn3460IlefsTer49)), NM&#95;015120.4:c.10819C > T (NP&#95;055935.4:p.(Arg3607Trp)). Further systemic examinations showed obesity and mild abnormalities of lipid metabolism. According to the genetic testing results and further systemic analysis, the three affected patients were finally diagnosed as Alström Syndrome (AS)., Conclusions: We found two new compound heterozygous pathogenic variants of the ALMS1 gene and determined the diagnosis as Alström Syndrome in three patients of two Chinese families. Our study extends the genotypic and phenotypic spectrums for ALMS1 -AS and emphasizes the importance of gene testing in assisting the clinical diagnosis for cases with phenotypic diversities, which would help the AS patients with early diagnosis and treatment to reduce future systemic damage., (© 2022. The Author(s).)

Infantile pertussis is clear evidence for the persistent transmission of pertussis in communities. Infants are the most vulnerable population for pertussis infection and are also important nodes in pertussis transmission networks in communities, and therefore, the prevention of infantile pertussis is the core of prevention and control measures against pertussis including vaccine immunization. Although the cases of pertussis reported in China are mainly infants with pertussis, the actual number of infants with pertussis might be higher than the reported number. It is necessary in clinical practice to improve the awareness of this disease and promote related laboratory tests. On the basis of emphasizing the identification of pertussis in infants, timely diagnosis and treatment, follow-up visits, and standard management of the close contacts of infants with pertussis should be performed to reduce and block the community transmission of pertussis.

HIV-associated neurocognitive disorders (HAND), characterized by cognitive, motor, and behavioral abnormalities, are common among people living with HIV and AIDS. In combined antiretroviral therapy era in Western countries, nearly 40% of HIV-infected patients continue to suffer from HAND, mainly with mild or asymptomatic cognitive impairment. However, the prevalence and the clinical features of HAND in China are still not well known. In this study, a multi-center cross-sectional study was performed to determine the prevalence and clinical features of HAND in 134 HIV-1 infected patients in China. The International HIV Dementia Scale and a neuropsychological test battery were administered for screening and diagnosis HAND. Subjective complaints, CD4 count and viral loads in both blood plasma and cerebrospinal fluid were correlated with diagnosis of HAND. The results showed that the prevalence of HAND was approximately 37% in these patients. CD4 counts at time of sampling were significant lower in the HAND group than in the non-HAND group. But the distribution of the HAND severity did not differ by CD4 count or viral load. The presence of HAND was associated with cognitive and behavior disorder complaints (4.9- and 4.1-fold higher than those without HAND, respectively). The present data suggest that CD4 count and viral load cannot predict the severity of HAND, although the prevalence of HAND is similar to previous report in these patients. Cognitive and behavioral disorder is major complaint rather than cognitive and motor impairment. A larger prospective study is needed to obtain better estimates of HAND in China. [ABSTRACT FROM AUTHOR]

Dystonia is defined as the presence of sustained involuntary muscle contractions, often leading to abnormal posture and movement. DYT1 is caused by a mutation in the TOR1A gene, whilst mutations in THAP1 gene have been identified as responsible for DYT6. The relative frequency and phenotype differences between DYT1 and DYT6 amongst Chinese primary dystonia patients have not been well-characterized. One hundred eleven unrelated Chinese patients with primary dystonia were screened for mutations in TOR1A and THAP1 genes, and correlate this with clinical presentation. Exon 5 of TOR1A and all three exons and exon-intron conjunctions in THAP1 were screened by direct sequencing. Three subjects were found to have the GAG deletion in the TOR1A gene, and two patients were detected with THAP1 gene mutations/variations (c.224A>T, c.449A>C). The overall mutation frequency was 4.5% in this cohort with TOR1A mutations found in 2.7% and THAP1 mutations found in 1.8%. No mutations were detected in the controls composed of 100 normal Chinese subjects. The clinical presentations of the DYT1 cases included onset in the limbs that could progress to the generalized dystonia within several years but without cranial involvement. Whilst in the DYT6 cases, the onset was cranial or cervical and progresses very slowly. The major clinical differences between DYT1 and DYT6 dystonia in China were the cranial involvement in DYT6 and progress to general dystonia within several years in DYT1. [ABSTRACT FROM AUTHOR]

Abstract: Objective: To compare the prevalence, the clinical manifestations, familial aggregation and heritability of Kashin–Beck disease (KBD) and Sayiwak disease (SD) in China. Methods: 10,823 people from 1361 families in 14 villages in Linyou County, Shaanxi Province, were examined for KBD, and 2264 people from 552 families in Sayiwak village, Kashi city, Xinjiang, were examined for SD. The investigation included documentation of individual information and clinical manifestations. Patients were subject to radiographic imaging of the right hand. t-Tests and chi-square tests were used to examine correlations of the diseases with age and gender in each of the two groups. Analysis of familial aggregation was conducted with the chi-square distribution analysis of goodness of fit using the SAS8.0 program. The Li–Mantel–Gart method was employed for the segregation analysis. The Falconer regression method11 was employed to estimate heritability (h 2). Results: The prevalence of KBD in Linyou County was 10.90%, and of SD in Sayiwak village was 0.57%. Of the 21 clinical signs examined, KBD cases exhibited 19 signs (90.48%) and SD cases exhibited 18 signs (85.71%), which indicate similarities between the two diseases. However, different clinical signs were evident between the KBD and SD cases, with different impairment rates among joints of limbs in KBD and similar rates in SD. A comparison of radiological features of limb arthropathy between the two diseases showed differences in several characteristics between the two diseases. In addition, measurements of stature and sitting height showed significant differences in bone development between the two diseases. For KBD cases, the values of h 2 in the first-degree and the second-degree relatives were 41.76% and 37.20% (P <0.05). The CI of h 2 was 31.17–52.38 and 19.86–54.55, with a segregation ratio of P =0.12, SE(P)=0.014, 95%CI 0.09–0.15, less than 0.25(χ 2 =42.36, df =1, P <0.001). For SD cases, the values of h 2 were 155.61%, 273.63% and 236.83%. The 95% CIs of h 2 were 133.20–178.12, 229.83–317.42 and 145.83–327.81, respectively, with a segregation ratio of P =0.34, SE(P)=0.059, and CIs between 0.22 and 0.45(χ 2 =4.9817, df =1, P >0.05). Conclusion: The results indicate both similarities and differences in the clinical manifestations of KBD and SD. However, environmental factors appear to play a major role in KBD, while hereditability is a major factor in SD. [Copyright &y& Elsevier]

Abstract: Background: Human rhinoviruses (HRVs) are among the most common causes of community-acquired pneumonia (CAP) in children. However, the differential roles of the three HRV species HRV-A, HRV-B, and HRV-C in pediatric CAP are not fully understood. Objective: To determine the distribution of HRV species and their roles in children hospitalized with CAP in Beijing, China. Study design: Nasopharyngeal aspirates were collected between April 2007 and March 2008 from 554 children with a primary diagnosis of CAP. HRVs in the clinical samples were detected by RT-PCR and by sequencing. Infections with other respiratory viruses were identified by PCR. Results: HRVs were detected in 99 patients (17.87%). Among these patients, 51.52% tested positive for HRV-A, 38.38% for HRV-C, and 10.10% for HRV-B. HRVs were detected throughout the study period. The monthly distribution of HRV infections varied with HRV species. Median age, gender, symptoms, severity, and duration of hospitalization for single HRV-C infections were similar to those observed for single HRV-A infections. Co-infections with other respiratory viruses were detected in 57.58% of the HRV-positive children. HRV/RSV dual infections were correlated with a higher frequency of shortness of breath (HRV-A group, P 2tail =0.01; HRV-C group, P 2tail =0.015) and lower median ages (HRV-A group, P 2tail =0.049; HRV-C group, P 2tail =0.009). Conclusion: Our study shows that HRV-C strains circulate at a prevalence intermediate between HRV-A and HRV-B. The severity of clinical manifestations for HRV-C is comparable to that for HRV-A in children with CAP. These findings point to an important role of both HRV-A and HRV-C in pediatric CAP. [ABSTRACT FROM AUTHOR]

To evaluate the prevalence of clinical findings in Behçet’s disease (BD) in Chinese population. The clinical data of 170 consecutive BD patients were, retrospectively, analyzed and compared with previous reports. The mean age at onset was 34.4 years (range 6–72) and the mean age of diagnosis was 39.1 years (range 8–72). Mean delay in diagnosis was 5.7 years. The male to female ratio was 1.3:1. Recurrent aphthous ulceration (64.7%), skin lesion (18.2%), and genital ulceration (8.2%) were the commonest onset-presentations of the disease. During the disease course, the commonest presenting features were oral ulcer (100%), cutaneous involvement (68.2%), genital ulcer (63.5%), arthritis (37.1%), and ocular lesion (14.1%). As for the minor clinical manifestations, gastrointestinal lesion (10.0%), vascular lesion (8.8%), and cardiac lesion (4.7%) occurred occasionally. The pathergy skin test showed positive in 63.5% of the patients and revealed a higher positive rate in the females (76.7%) than in the males (53.6%). Less ocular lesion and genital ulcer were present in Chinese BD patients. [ABSTRACT FROM AUTHOR]

Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disease mainly affecting the skeletal and skin. Two genes involved in prostaglandin degradation are known to be responsible for PHO: HPGD and SLCO2A1. HPGD gene mutation can cause PHO autosomal recessive 1 (PHOAR1). The purpose of the present study is to analyze the clinical and biochemical characteristics and HPGD gene mutations of 12 Chinese PHOAR1 patients. Twelve PHOAR1 patients from eleven families, including eleven males and one female, were enrolled in this study. Digital clubbing and periostosis came out to be the most common features, which always occur in the early childhood. We performed HPGD gene analysis and identified six novel (c.1A>G, c.34G>T, c.317T>A, c.475G>T, c.548C>T and c.421+1G>T) and one known (c.310&#95;311delCT) HPGD mutations. The recurrent mutation c.310&#95;311delCT were found in all eleven patients, suggesting it is a hotspot mutation. PHOAR1 patients are considered to have an autosomal recessive inheritance pattern. Here, in addition to nine compound heterozygous patients and two homozygous patients, we found one heterozygous patient and reviewed two heterozygous patients reported in other studies. In terms of biochemical characteristics, our PHOAR1 patients have elevated urinary prostaglandin E2 (PGE2) levels (P<0.001) and decreased urinary prostaglandin E metabolite (PGE-M) levels (P=0.04) compared with healthy controls. The patients' PGE2/PGE-M (E/M) ratio came out to be lower than normal subjects (P<0.001). This study provides a comprehensive description of the clinical phenotypes of Chinese PHOAR1 patients and expands the genotypic spectrum of the disease., Competing Interests: Competing Interests: The authors have declared that no competing interest exists., (© The author(s).)

Objective: To explore the clinical manifestations, pathological features and treatment of small cell neuroendocrine carcinoma of the prostate (SCPCa)., Methods: We reported 1 case of SCPCa treated in Jinan People's Hospital and analyzed the clinical data on another 57 cases reported in China., Results: Of the total number of cases, 52 (91.2%) had urinary tract symptoms, including 40 cases of urinary tract obstruction symptoms and 53 (91.2%) had abnormal prostatic nodules on digital rectal examination, 17 (29.8%) with PSA > 4 μg/L. The clinical data on 43 (75.4%) of the cases were valuable for the assessment of clinical stages, including 30 cases with confirmed metastases and another 20 with lymph node and distant metastases. Thirty-seven of the cases (64.9%) were reported with immunohistochemical results, 30 (52.6%) with follow-up data (followed up for 1－24 months, with median survival time of 8 months, and a 1-year survival rate of 16.7%), and another 26 with therapeutic information, 14 treated by chemotherapy, with a median survival time of 11 months and a 1-year survival rate of 28.6%, significantly higher than in the non-chemotherapy groups (P<0.01)., Conclusions: Small cell carcinoma of the prostate is highly malignant with poor prognosis. Its clinical symptoms mainly include urinary tract obstruction, its definite diagnosis chiefly depends on histopathology and immunohistochemistry, and its treatment recommended is chemotherapy-based comprehensive protocol.

Introduction: Behcet's syndrome (BS) is a complex, heterogeneous disorder. However, classification of its subgroups is still debated. The purpose of this study was to investigate the clinical features and aggregation of patients with BS in China, based on manifestations and organ involvements., Methods: This was a cross-sectional study of BS patients in Huadong Hospital of Fudan University between September 2012 and January 2020. We calculated relative risks (RRs) of clinical variables according to sex. Moreover, we conducted a hierarchical cluster analysis applied according to eighteen variables to determine subgroups of patients., Results: A total of 860 BS patients were included. Male sex was associated with ocular involvement (RR 2.32, 95% CI 1.67, 3.22, P < 0.0001), vascular involvement (RR 2.00, 95% CI 1.23, 3.23, P = 0.004), cardiac lesion (RR 5.46, 95% CI 2.33, 12.77, P < 0.0001), and central nervous system involvement (RR 2.95, 95% CI 1.07, 6.78, P = 0.007) and was negatively associated with genital ulcers (RR 0.84, 95% CI 0.79, 0.91, P < 0.0001). Five clusters (C1-C5) were observed. C1 (n = 307) showed the skin and mucosa type. In C2 (n = 124), all had articular involvement, barely having major organ involvement except for 18 cases with intestinal lesions. In C3 (n = 156), the gastrointestinal type, 144 patients presented with intestinal involvement, and 36 patients with esophageal ulcers. In C4 (n = 142), all subjects presented with uveitis. C5 (n = 131) consisted of 44 patients with cardiac lesions, 58 with vascular involvement, and 26 cases having central nervous system involvement., Conclusion: Our analysis confirmed sex differences in phenotypes of BS. Cluster analysis identified gastrointestinal, uveitis, and cardiovascular involvement cluster separately in different subsets, which represents the most commonly involved organs. Further research is required to replicate and clarify the patterns of phenotype in BS.

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare, incurable, and fatal neurodegenerative disorder. The objective of this study was to describe the clinical features and survival time of Chinese sCJD patients, and to explore the associations between clinical data and survival. In this study, we analysed the clinical data of 21 sCJD patients in a tertiary care hospital and used all Chinese case material available from 152 patients with sCJD in literatures between 2008 and 2018. The mean age of onset of all 173 deceased patients was 61.44 year-olds (y), with the highest incidence in the population of 60 to 69 y. The most common manifestation at disease onset was progressive dementia. With the progression of the disease, the four main clinical symptoms and signs were developed, including myoclonus, visual or cerebella disturbance, pyramidal or extrapyramidal dysfunction, and akinetic mutism. Extrapyramidal symptoms were more frequently observed. The mean survival time was 7.34 months, and 82.10% of cases died within 1 year after disease onset. The follow-up showed that the survival time was longer and the myoclonus sign was more frequently presented in younger-onset sCJD patients. Patients with abnormalities only in cortical regions had a higher frequency of pyramidal dysfunction than patients having lesions in both cortex and basal ganglia. The findings of this study might provide some insight into the clinical characteristics of sCJD patients in China, but further studies could examine the presences of clinical features and survival time in patients with early age of onset in a prospective manner.

Objective: To evaluate the association between blood test parameters and intensity of Plasmodium falciparum infections among imported falciparum malaria cases in Tianjin City from 2015 to 2019, so as to provide insights into the early diagnosis of imported P. falciparum malaria., Methods: The epidemiological data of 37 imported cases with confirmed diagnosis of P. falciparum malaria in Tianjin City from 2015 to 2019 were collected, and the epidemiological features and clinical manifestations were retrospectively analyzed. In addition, the association between blood test parameters and intensity of P. falciparum infections was evaluated among the imported P. falciparum malaria cases., Results: Among the 31 imported P. falciparum malaria cases, there were 31 cases (83.8%) with a reduction in platelet (PLT) counts, 16 cases (43.2%) with a reduction in red blood cell (RBC) counts, 16 cases (43.2%) with a reduction in hemoglobin (Hb) concentrations, 23 cases (62.2%) with a rise in neutrophil percentage (NEUT%), 32 cases (86.5%) with a rise in total bilirubin (TBIL) concentrations, 29 cases (78.4%) with a rise in alanine aminotransferase (ALT) concentrations, 28 cases (75.7%) with a rise in aspartate transaminase (AST) concentrations, and 23 cases (62.2%) with a rise in gamma-glutamyl transpetidase (GGT) concentrations. The PLT count and Hb concentration correlated negatively with the intensity of P. falciparum infections (Goodman-Kruskal γ = -0.568 and -0.521, both P values < 0.05) and the TBIL concentration and NEUT% correlated positively with the intensity of P. falciparum infections (Goodman-Kruskal γ = 0.496 and 0.610, both P values < 0.05) among imported falciparum malaria cases; however, there were no associations of ALT, AST, GGT levels or RBC count with the intensity of P. falciparum infections among the imported falciparum malaria cases (Goodman-Kruskal γ = 0.370, 0.497, 0.314 and -0.434, all P values > 0.05)., Conclusions: PLT, Hb, TBIL and NEUT% may serve as markers for early auxiliary diagnosis of imported P. falciparum malaria, and PLT and TBIL may provide valuable information for the diagnosis of severe imported P. falciparum malaria.

The objective of this study was to evaluate whether combination antiretroviral therapy (cART) has an effect on the clinical manifestations, radiological characteristics, and disease severity of human immunodeficiency virus (HIV)-associated Talaromyces marneffei infection. The clinical manifestations, chest computed tomography (CT) images, and disease severity were compared between 14 patients with culture-confirmed T. marneffei infections who received cART and 38 patients who did not receive cART. Clinical manifestations included high fever (>38°C), cough, shortness of breath, chills, and skin rash. Chest CT scans were evaluated for the presence of ground-glass opacities, consolidation, miliary nodules, nodules, masses, cavitation, pericardial effusion, pleural effusion, mediastinal lymphadenitis, and the distribution of parenchymal abnormalities. Disease severity was estimated by clinical manifestations and chest CT findings. Fever (>38°C), cough, shortness of breath, and chills were significantly less frequent in patients who received cART than in those who did not receive cART (P < 0.05). The frequencies of miliary nodules, mediastinal lymphadenitis, and the proportion of diffuse lesions were significantly lower in patients who received cART than in those who did not receive cART (P < 0.05). The disease severity was significantly decreased in patients who received cART compared with patients who did not receive cART (P < 0.001). T. marneffei -infected patients who received cART had fewer clinical manifestations and decreased disease severity compared with those who did not receive this treatment. The use of cART is associated with modified chest CT characteristics in HIV-associated T. marneffei infections.

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) epidemic has become a major challenge to public health in China and other countries, considering its pathogenicity across all age groups. Pregnancy is a unique physiological condition, and is characterized by altered immunity and elevated hormone levels to actively tolerate the semi-allogeneic fetus, which undergoes a sudden and substantial fluctuation during the immediate postpartum period. Changes in clinical features, laboratory characteristics, and imaging features of pregnant women during the pre-partum and post-partum periods require further elucidation. Here, we retrospectively analyzed the clinical features, laboratory characteristics, and imaging features of eight pregnant cases of SARS-CoV-2 infection during the pre-partum and post-partum periods. Our results showed that four of the eight pregnant women were asymptomatic before delivery but became symptomatic post-partum. Correspondingly, white blood cell (WBC) counts increased and lymphocyte (LYMPH) counts decreased. C-reactive protein (CRP) levels in the serum also increased to a higher level than those in general pregnancy. Therefore, it is imperative to closely monitor laboratory parameters including the WBC count, LYMPH count, and CRP, along with other imaging features in chest CT scans, to promptly prevent, diagnose, and treat a SARS-CoV-2 infection during pregnancy.

Background: Fibrodysplasia ossificans progressiva (FOP) is a rare and disabling heritable connective tissue disease that is difficult to treat. This study seeks to explore the clinical characteristics, clinical manifestations, treatment and prognosis of FOP to provide a clinical basis for its early diagnosis and treatment., Methods: Twenty-six children with FOP were retrospectively analyzed in terms of their onset, clinical manifestations, auxiliary examinations and treatment., Results: Among the 26 cases, the youngest age of manifestation of mass was 8 days after birth, and the average age was 3 years and 2 months. The peak age was 2-5 years old. Inflammatory mass and toe-finger deformity are the main early clinical manifestations of the disease. These inflammatory masses often lead to hard osteogenic deposits that initially mainly involve the central axis, such as the neck (22/26, 84.6%), back (20/26, 76.9%), and head (13/26, 50%). Toe-finger deformity mainly manifests as symmetrical great toe deformity, or short and deformed thumb and little finger. The diagnosis of FOP requires typical clinical manifestations or ACVR1 gene detection. The main therapeutic drugs for FOP include glucocorticoids and non-steroidal anti-inflammatory drugs. Although not compliant with the recommended medical management of FOP, in our clinical practice children with uncontrollable illness could be treated using a variety of immunosuppressive agents in combination., Conclusions: FOP is a rare autosomal dominant heritable disease. The main clinical manifestations observed in this study were recurrent inflammatory mass and toe-finger deformity. If the diagnosis and treatment are not performed in a timely manner, serious complications are likely to affect the prognosis. Therefore, early diagnosis and active treatment should be performed.

This study sought to evaluate clinical features, treatment patterns, and outcomes of patients with idiopathic inflammatory myopathy (IIM) complicated by heart failure (HF). Thirty-two patients with IIM-HF admitted to the Peking Union Medical College Hospital between January 1999 and January 2018 were retrospectively reviewed, including 14 patients with polymyositis, 11 with dermatomyositis, and 7 with overlap syndrome. Survivors and no-survivors were compared on clinical characteristics and treatment. Although systemic symptoms were variable, all patients presented with elevated troponin I. Rapid atrial arrhythmia was the most frequent arrhythmia. Systolic dysfunction and restrictive diastolic dysfunction were typical presentations in echocardiography. Twenty-nine patients were followed up for a median of 2.8 years (0.1 month to 11 years). We recorded 13 deaths of cardiogenic cause, 1 of serious IIM, and 3 of infective complications. The median survival time from diagnosis of IIM-HF to all-cause mortality was 8.4 months (range from 1 month to 5 years). Both all-cause deaths and cardiogenic deaths were more reported in the methotrexate-alone group than in the combination therapy group (6/7 versus 3/10, P = 0.050; 5/6 versus 2/9, P = 0.041). Combination therapy including methotrexate (HR = 0.188, 95%CI 0.040-0.871, P = 0.033) and taking β-receptor blockers (HR = 0.249, 95%CI 0.086-0.719, P = 0.010) was associated with reduced risk of all-cause deaths. In conclusion, elevated troponin I, atrial arrhythmia, and systolic and restrictive diastolic dysfunction are typical characteristics of IIM-HF. Combined immunosuppression that includes methotrexate and β-receptor blockers seems to be important to improve survival.

High rates of misdiagnosis and delayed intervention in neonatal PWS are leading to poor prognoses. To determine the clinical and image characteristics of newborns with Prader-Willi syndrome (PWS). A total of 102 cases of newborns definitively diagnosed with PWS at the Children's Hospital of Fudan University from 02/2014 to 12/2017 were retrospectively analyzed. We analyzed the modulated voxel-based morphology (VBM) of gray matter in PWS by T2 weighted imaging. Of 102 cases, 75 (73.5%) have paternal deletion of 15q11.2-q13, whereas 27 (26.5%) have maternal uniparental disomy (UPD). Of the 75 deletion cases, 75 (100%) week crying, 71 (94.7%) hypotonia, 70 (93.3%) poor feeding, 46 (61.3%) hypopigmentation, 43 (57.3%) male cryptorchidism, 10 (13.3%) female labia minora, 48 (64%) characteristic facial features. Of 27 UPD cases, 27 (100%) week crying and hypotonia, 25 (92.6%) hypophagia, 20 (74.1%) male cryptorchidism, 1 (3.7%) female labia minora, 19 (70.4%) characteristic facial features, 12 (44.4%) hypopigmentation. The modulated VBM analysis shows that the middle frontal gyrus, orbitofrontal cortex (middle), and inferior frontal gyrus are the most variable brain regions that determine the endo-phenotype difference between the two genotypes. Hypotonia, hypophagia, and maldevelopment of sexual organs are general characteristics of newborns with PWS in Chinese population. In UPD cases, the proportions of premature newborns, elderly parturient women and congenital malformations were higher than for paternal deletion cases. The differences in the gray matter volume of these three regions between the two genotypes may explain the differences in maladaptive behaviors and emotions.

Objective: To analyse epidemiological, clinical characteristics and laboratory examination results of 245 occupational brucellosis form 2008 to 2018, which providing theoretical basis for prevention and control of occupational brucellosis. Methods: Based on the China Center for Disease Control and Prevention Information System, a database of occupational brucellosis cases in HunlunBuir from January 2008 to July 2018 was established. The Epidemiological characteristics, Clinical manifestation, laboratory examination of 245 occupational brucellosis and 359 without occupational brucellosis were comparatively analyzed about the same period. Results: Among the 245 patients, 219 were males, 254 in 359, malese were significantly higher than control group (χ(2)=21.331, P <0.05) . Fever, fatigue, hyperhidrosis and splenomegaly are common in patients with occupational brucellosis and non occupational brucellosis. Arthralgia (54.3%/44.8%) and CRP (81.2%/71.3%) were significantly also higher than control group (χ(2)=5.193, P <0.05; χ(2)=7.704, P <0.05) Fever, hyperhidrosis, fatigue and splenomegaly were common clinical manifestation and signs in the two groups. Brucellosis can cause a variety of complications, including osteoarticular hematological system and hepatic involvement, some patients with multiple system damage. Conclusion: The incidence of occupational brucellosis in HulunBuir is concentrated in agriculture and animal husbandry. Veterinarians are the main occupational groups, Occupational health interventions should be strengthened for key occupational hazards, regular occupational health examination, avoid chronic brucellosis and protect the health of key occupational groups.

Objective: To provide scientific evidence for Prevention and control measures of Occupational Forest Encephalitis (OFE) by analyzing the Epidemiological and occupational characteristics, clinical manifestation of OFE cases reported in HunlunBuir city during 2008~2017. Methods: Based on the China Center for Disease Control and Prevention Information System, a database of OFE cases in HunlunBuir from 2008~2017 was established. The Epidemiological characteristics of OFE were analyzed including three distributions, the available information includes 291 cases of population, geographical, periods, occupational distribution, clinical manifestations and laboratory examinations. Results: There were 291 OFE cases in HunlunBuir from 2008 to 2017, including 287 cases of mild OFE, Moderate, Serve in1, 3 cases, 282 male. In the temporal distribution, the most cases were 48 cases in 2011, 119 casesin June. 33.7% of the cases (98) were reported in Yakeshi, following 29.2% and 21.3% inroqen Autonomous Banner (85) , Genhe (62) . Of 291 cases, male were in 282.The high incidence of OFE mainly existed in Forest management 112 (38.5%) . The most clinical manifestation were headache in 195 (67%) , fever in 168 (57.7%) . Conclusion: The distribution of Occupational Forest Encephalitis cases in diverse regions and months in HunlunBuir are quite different. The occupational safety precautions of the forest workers and tick-borne encephalitis vaccines should be strengthened to reduce the occurrence of Occupational Forest Encephalitis.

Background: Limb-girdle muscular dystrophy (LGMD) is a commonly diagnosed hereditary muscular disorder, characterized by the progressive weakness of the limb-girdle muscles. Although the condition has been well-characterized, clinical and genetic heterogeneity can be observed in patients with LGMD. Here, we aimed to describe the clinical manifestations and genetic variability among a cohort of patients with LGMD in South China., Results: We analyzed the clinical information, muscle magnetic resonance imaging (MRI) findings, and genetic results obtained from 30 patients (24 families) with clinically suspected LGMD. In 24 probands, 38 variants were found in total, of which 18 were shown to be novel. Among the 30 patients, the most common subtypes were dysferlinopathy in eight (26.67%), sarcoglycanopathies in eight [26.67%; LGMD 2C in three (10.00%), LGMD 2D in three (10.00%), and LGMD 2F in two (6.67%)], LGMD 2A in seven (23.33%), followed by LGMD 1B in three (10.00%), LGMD 2I in three (10.00%), and early onset recessive Emery-Dreifuss-like phenotype without cardiomyopathy in one (3.33%). Furthermore, we also observed novel clinical presentations for LGMD 1B, 2F, and 2I patients with hypermobility of the joints in the upper limbs, a LGMD 2F patient with delayed language development, and other manifestations. Moreover, distinct distributions of fatty infiltration in patients with LGMD 2A, dysferlinopathy, and the early onset recessive Emery-Dreifuss-like phenotype without cardiomyopathy were also observed based on muscle MRI results., Conclusions: In this study, we expanded the clinical spectrum and genetic variability found in patients with LGMD, which provided additional insights into genotype and phenotype correlations in this disease.

Mutations in PCDH19, which encodes protocadherin 19, have been identified in epilepsy, mainly in affected females. We summarized the clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. We screened for PCDH19 mutations in 75 girls diagnosed with Dravet syndrome (DS) without a SCN1A mutation and 29 girls with fever-sensitive and cluster seizures. We identified 11 novel and 7 reported mutations in 21 of 104 probands (20.2%), including 6 (6/75, 8%) DS girls and 15 (15/29, 51.7%) girls with fever-sensitive epilepsy. The mutations were inherited in 9 probands, de novo in 11, and undetermined in the remaining patient. Shared clinical features included early onset seizures (5-18 months), seizures sensitive to fever, focal seizures or generalized tonic-clonic seizures in clusters and brief seizures. Mental retardation was present in 17 probands. Three patients had autistic features. Two of the nine probands with inherited mutations had no family history of epilepsy, one inherited the mutation from her transmitting father and the other inherited from her asymptomatic mother. Our results confirmed that the clinical spectrum of PCDH19 mutations includes female DS patients, epilepsy and mental retardation limited to females, epilepsy with normal development and asymptomatic female carriers., (© 2016 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)