简介：AbstractObjective:Scoping review of published literature to establish clinical characteristics and audiologic outcomes in patients diagnosed with Susac’s Syndrome(SS) who have undergone cochlear implantation (CI).Data sources:All published studies of CI in SS and contribution of two of our own patients who have not been reported previously.Methods:A comprehensive search of MEDLINE (via PubMed) was carried out in March 2020 using the following keywords and related entry terms: Susac’s Syndrome, Cochlear Implantation. Results: Our search identified a total of five case reports of CI in SS. With the addition of our two patients reported here, we analyzed characteristics and outcomes in seven patients. Mean age at implantation was 30 years old (range 19-46), with six women and one man implanted. Mean time from onset of hearing loss to implantation was 17 months (range three months to four years). Best reported postoperative speech understanding was reported via different metrics, with six of seven patients achieving open set speech scores of 90% or better, and one subject performing at 68%. Vestibular symptoms were present preoperatively in four of seven patients (57%), with vestibular testing reported in two patients, and showing vestibulopathy in one patient. No complications were reported following cochlear implantation.Conclusion:Cochlear implantation is a viable option for hearing rehabilitation in patients with SS, with levels of attainment of open set speech comparable to other populations of CI candidates.

简介：摘要目的对已发表的文献进行综述，以明确接受人工耳蜗植入术的Susac综合征患者的临床特征和听力学结果。资料来源所有已发表的关于Susac综合征人工耳蜗植入的研究，以及我们之前尚未报道的2例患者。方法在2020年3月，通过PubMed综合检索MEDLINE数据库，检索关键词为：Susac综合征、人工耳蜗植入。结果本研究共发现5例经人工耳蜗植入治疗Susac综合征的报道，加上本文报道的2例患者，我们共分析了7例患者的临床特征和结果。人工耳蜗植入时的平均年龄为30(19~46）岁，其中有6名女性和1名男性。自听力下降起病至人工耳蜗植入的平均时间为17个月（3个月~4年）。报道的病例中，不同患者术后最佳言语理解是通过不同的听力学方法进行评估的。7例患者中有6例获得了90%或更高的开放式言语得分，1名受试者的得分为68%。7例患者中有4例（57%）在手术前出现前庭症状，2例患者做过前庭检查，1例患者有前庭病变。人工耳蜗植入术后未出现并发症。结论人工耳蜗植入是Susac综合征患者听力康复的一种可行选择，术后可达到与其他人工耳蜗植入人群相当的开放式言语水平。

简介：AbstractIntroduction:Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder characterized by a diffuse palmoplantar hyperkeratosis and early periodontal destruction. Only a few PLS cases are reported by dermatological clinicians due to its rarity.Here, we reported a 16-year-old Chinese boy presented with diffuse transgradient palmoplantar hyperkeratosis since 4 years of age.Case presentation:The patient had also experienced recurrent episodes of swollen gums with premature loss of teeth. He is treated with multidisciplinary approaches. On follow-up, he continued to have recurrent gingival inflammation.Discussion:The etiopathogenesis of PLS is obscure and its management presents a special challenge, which call for in-depth studies that will reveal the complex interactions of genetic, immunologic, and microbiological factors involved in pathogenesis of PLS.Conclusion:PLS is a very rare genodermatosis with characterized palmoplantar hyperkeratosis. Dermatological clinicians should be aware of this rare clinical entity to promote its early diagnosis.

简介：AbstractAcute respiratory distress syndrome (ARDS) is one of the most common severe diseases seen in the clinical setting. With the continuous exploration of ARDS in recent decades, the understanding of ARDS has improved. ARDS is not a simple lung disease but a clinical syndrome with various etiologies and pathophysiological changes. However, in the intensive care unit, ARDS often occurs a few days after primary lung injury or after a few days of treatment for other severe extrapulmonary diseases. Under such conditions, ARDS often progresses rapidly to severe ARDS and is difficult to treat. The occurrence and development of ARDS in these circumstances are thus not related to primary lung injury; the real cause of ARDS may be the "second hit" caused by inappropriate treatment. In view of the limited effective treatments for ARDS, the strategic focus has shifted to identifying potential or high-risk ARDS patients during the early stages of the disease and implementing treatment strategies aimed at reducing ARDS and related organ failure. Future research should focus on the prevention of ARDS.

简介：AbstractIntroduction:Nicolau syndrome is a rare complication following intramuscular injections of various drugs. It is characterized by severe pain, skin and sometimes muscle necrosis after drug injection. However the pathogenesis of Nicolau syndrome remains unclear.Here, we report a case of Nicolau syndrome following metamizole injection.Case presentation:A 35-year-old female presented with an painful necrotic ulcer who developed Nicolau syndrome after an intramuscular injection of metamizole in her right thigh due to reccurent episodes of back pain. This reaction is typical for Nicolau syndrome.Discussion:The most common finding of Nicolau syndrome in the early period was severe pain at the injection site. Other common findings were skin discoloration, tenderness, and swelling; indurated livedoid plaques; and erythematous, ecchymotic and purpuric patches. The histopathological results of the case with Nicolau syndrome showed formation of ulceration and fat necrosis.Conclusion:Although Nicolau syndrome is an uncommon cutaneous adverse reaction, clinicians should be aware of this complication to prevent or minimize the severity of Nicolau syndrome.

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简介：AbstractFat embolism syndrome (FES) is a serious life-threatening manifestation of the fat embolism phenomenon characterized by Bergman’s triad of dyspnea, petechiae and mental confusion. While fat embolization into systemic circulation is common, FES occurs in a meagre 0.05%-3% of patients having isolated long bone fractures. Though visual symptoms are commonly attributed to fat embolism retinopathy and is a later occurrence, it may not always be the case. Cortical blindness has been seldom reported in association with FES, and less so as a presenting complaint. Furthermore, no previous literature has described the same in context of an isolated tibia fracture. We report a 20-year-old gentleman with an isolated right tibia shaft fracture who developed sudden onset diminution of vision in both eyes less than 24 h following trauma with no other complaints. Lack of any remarkable ophthalmoscopic findings or other symptoms left us with a diagnostic conundrum. He later went on to develop altered mentation, hypoxia and generalized tonic-clonic seizures with subsequent MRI revealing multiple cerebral fat emboli also involving both occipital lobes. Supportive measures were instituted and his general condition as well as vision gradually improved following which he underwent plate fixation of the fracture under spinal anaesthesia. The perioperative period was uneventful and he was discharged following staple removal. At one month of follow-up, the patient had no residual visual field defects or neurological deficits. Though FES is rare among isolated tibia fractures, this clinical catastrophe may strike in any unsuspected setting thereby warranting a high index of suspicion to ensure early diagnosis and improved patient outcomes.

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简介：AbstractIrritable bowel syndrome (IBS) is a common functional gastrointestinal disease worldwide. Current guidelines of IBS are mostly based on the western populations and expected to vary in different communities. China has a large population and a vast literature is available on IBS. Due to linguistic variations in the literature, the studies are not widely known and their conclusions thus remain largely obscured to the western medical literature. In this article, we reviewed the published literatures on the investigations of IBS epidemiology, diagnosis, and management in the Chinese population and emphasized the different findings gleaned from the western publications. The detailed literature review will benefit understanding of and promote future study on IBS.

简介：摘要ObjectiveTo investigate a 5-generation Chinese Han family with PRKAG2 cardiac syndrome resulting from mutations in the PRKAG2 gene encoding the AMP-activated protein kinase (AMPK) gamma 2 subunit and the treatment of myocardial hypertrophy in patients with PRKAG2 cardiac syndrome.MethodIn this study, a 5-generation Chinese Han family (n = 40) with complete atrioventricular block and asymmetric interventricular septal hypertrophy was taken as the research object, and the DNA were obtained from 30 of them (6 patients and 24 normal persons). Objective gene capture combined with high-throughput sequencing technique was used to detect the genes of family members. After the gene diagnosis was confirmed, the cardiac data of patients taking beta-blockers in this family were analyzed retrospectively with the average annual increase in thickness of interventricular septum (expressed in mm/year) as an index.ResultsA total of 6 family members were associated with PRKAG2 (c.905G>A; pR302Q) heterozygous variation. The phenotype of pedigree patients is characterized by complete atrioventricular block and asymmetric interventricular septal hypertrophy, which has high homogeneity. No syncope occurs after implantation of permanent pacemaker, but atrial flutter and atrial fibrillation occur. The 5 patients with PRKAG2 cardiac syndrome in the family took beta-blockers for a long time, and the progress of cardiac hypertrophy was significantly delayed.ConclusionsOur results suggest that the possibility of PRKAG2 mutations should be considered in patients with complete atrioventricular block and asymmetric interventricular septal hypertrophy, and that prompt implantation of pacemakers and long-term use of beta blockers may improve the prognosis of PRKAG2 cardiac syndrome patients.

简介：AbstractPeriodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is the most common periodic fever condition in children, with most cases appearing by the age of 5. Although PFAPA is generally a self-limited condition, it can have a major impact on a child’s quality of life, as well as that of their family. Recent research has continued to shed light on the genetic and immunologic factors that play a role in the pathogenesis of PFAPA. There also exists significant heterogeneity in treatment strategies, and progress has been made to develop evidence-based management strategies and establish a standard of care. This review will outline current knowledge regarding the pathogenesis of PFAPA, as well as treatment strategies and our clinical experience.

简介：AbstractImportance:Scimitar syndrome (SS) is a rare type of congenital heart disease characterized by total or partial anomalous venous drainage of the right lung to the inferior vena cava. However, the surgical repair techniques for SS vary according to patients’ anatomical and pathological features.Objective:This study was performed to analyze the mid-term results of a less invasive surgical correction technique for SS in children.Methods:Eleven patients with SS who underwent surgical repair from January 2012 to March 2020 were retrospectively analyzed. The anomalous scimitar vein (SV) was directly reimplanted to the left atrium, and the concomitant atrial septal defect was simultaneously repaired with cardiopulmonary bypass.Results:Three male and eight female patients were included in the study. Their mean age was 3.1 ± 1.3 years, and their mean body weight was 12.8 ± 3.0 kg. Most patients had symptoms, such as upper respiratory tract infection, dyspnea, and recurrent pneumonia, and two patients had pulmonary hypertension. None of the 11 patients who underwent direct SV reimplantation by right thoracotomy developed bleeding, arrhythmia, heart failure, or perioperative death, and no patients required reoperation during a mean follow-up period of 36.6 ± 15.2 months. Postoperative echocardiography revealed no restenosis or obstruction of the anastomosis in any patients.Interpretation:Surgical repair for SS by right thoracotomy and direct anastomosis of the SV to the posterior wall of the left atrium is safe and effective, with good long-term patency of the reimplanted SV and a low mortality rate.

简介：AbstractBackground:The ongoing transmission of the Middle East respiratory syndrome coronavirus (MERS-CoV) in the Middle East and its expansion to other regions are raising concerns of a potential pandemic. An in-depth analysis about both population and molecular epidemiology of this pathogen is needed.Methods:MERS cases reported globally as of June 2020 were collected mainly from World Health Organization official reports, supplemented by other reliable sources. Determinants for case fatality and spatial diffusion of MERS were assessed with Logistic regressions and Cox proportional hazard models, respectively. Phylogenetic and phylogeographic analyses were performed to examine the evolution and migration history of MERS-CoV.Results:A total of 2562 confirmed MERS cases with 150 case clusters were reported with a case fatality rate of 32.7% (95% CI: 30.9-34.6%). Saudi Arabia accounted for 83.6% of the cases. Age of ≥ 65 years old, underlying conditions and ≥ 5 days delay in diagnosis were independent risk factors for death. However, a history of animal contact was associated with a higher risk (adjusted OR = 2.97, 95% CI: 1.10-7.98) among female cases < 65 years but with a lower risk (adjusted OR = 0.31, 95% CI: 0.18-0.51) among male cases ≥ 65 years old. Diffusion of the disease was fastest from its origin in Saudi Arabia to the east, and was primarily driven by the transportation network. The most recent subclade C5.1 (since 2013) was associated with non-synonymous mutations and a higher mortality rate. Phylogeographic analyses pointed to Riyadh of Saudi Arabia and Abu Dhabi of the United Arab Emirates as the hubs for both local and international spread of MERS-CoV.Conclusions:MERS-CoV remains primarily locally transmitted in the Middle East, with opportunistic exportation to other continents and a potential of causing transmission clusters of human cases. Animal contact is associated with a higher risk of death, but the association differs by age and sex. Transportation network is the leading driver for the spatial diffusion of the disease. These findings how this pathogen spread are helpful for targeting public health surveillance and interventions to control endemics and to prevent a potential pandemic.

简介：AbstractSwine acute diarrhea syndrome coronavirus (SADS-CoV) is a recently discovered coronavirus that causes severe and acute diarrhea and rapid weight loss in piglets. SADS-CoV was reported to be capable of infecting cell lines derived from diverse species, including bats, mice, hamsters, rats, chickens, pigs, nonhuman primates, and humans, implying its high risk of cross-species infection. However, its receptor is still unknown. In this study, the receptor-binding domain of the SADS-CoV spike (S) protein was purified and then subjected to affinity purification (AP)-coupled mass spectrometry (MS)-based proteomic analysis to identify the interactors of the SADS-CoV S protein. Forty-three host proteins were identified, and a Gene Ontology analysis indicated that these interactors can be grouped into categories such as "cell-cell adhesion" , "translation" "viral transcription" , suggesting that these processes may participate in the SADS-CoV life cycles. RNA interference-based screening of these interactors indicated that PPIB and vimentin can affect SADS-CoV replication. Our study provides an overarching view into the host interactome of the SADS-CoV S protein and highlights potential targets for the development of therapeutics against SADS-CoV.

简介：AbstractPregnancy is rare and difficult in Sheehan syndrome patients. With the help of assisted reproductive technology, the patients even with panhypopituitarism can get pregnant again. Moreover, women with hypopituitarism have increased risk of pregnancy complications. Here we report a patient who suffered acute and severe Sheehan syndrome with panhypopituitarism and central diabetes insipidus got pregnant again by in vitro fertilization and embryo transfer. A regular and careful antenatal care was given by the cooperation between obstetricians and endocrinologists. Finally, she delivered a healthy female baby at 37+6weeks of gestation with Apgar scores of 10 and 10 at 1 and 5 minutes, respectively. The patient and her baby were doing well at postpartum follow-up. The related articles were also reviewed. This case report is aimed to help clinical practitioners to make better decisions on the management of Sheehan syndrome or other type of hypopituitarism during pregnancy.

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简介：AbstractSevere fever with thrombocytopenia syndrome (SFTS) was first detected in China in 2009. The incidence of SFTS increases year by year, and there is no effective treatment. Considering that the reported prevalence of SFTSV infection varies from region to region, we aimed to quantitatively evaluate the epidemic characteristics of SFTSV infection in China from 2010 to 2020, including the distribution differences in infectious season, sex, age, occupation, and region. A meta-analysis framework was used to search for the related published data with keywords in electronic databases (CNKI, WanFang, CBM, and PubMed). According to the PRISMA statement, the studies that included SFTS diagnosed in China were analyzed. Furthermore, we used Revman and Stata to merge statistical effects, and used I2 and P-values for heterogeneity test and quality assessment. Eleven studies containing 4,932 cases confirmed by SFTSV infection were included in this meta-analysis. The ratio of male-to-female is 1.04 to 1. Cases were concentrated between 40 and 80 years of age (MD = 92%, 95%CI: 91%-93%). Farmers are at the highest risk of SFTSV infection (MD = 84%, 95%CI: 77%-90%). The risk of infection for consecutive period of April-August was significantly higher than the sum of the remaining months (MD = 82%, 95%CI: 78%-85%). In addition, the patient has an extensive history of exposure, including living in the mountains, exposure to ticks, livestock, mouse and the patient. We came to the conclusion that SFTSV is transmitted primarily through tick bites in China, so middle-aged and older adults living in mountains regions are at the highest risk for SFTSV infection in April through August each year.

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