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Cardiovascular involvement in multisystem inflammatory syndrome in children and midterm follow-up from a pediatric tertiary center in India
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作者 Poovazhagi Varadarajan Ritchie Sharon Solomon +3 位作者 Seenivasan Subramani Ramesh Subramanian Gomathy Srividya Elilarasi Raghunathan 《World Journal of Clinical Pediatrics》 2025年第1期127-138,共12页
BACKGROUND In multisystem inflammatory syndrome in children(MIS-C)with coronavirus disease 2019,there was paucity of data from low-income and middle-income countries on cardiovascular involvement and its longitudinal ... BACKGROUND In multisystem inflammatory syndrome in children(MIS-C)with coronavirus disease 2019,there was paucity of data from low-income and middle-income countries on cardiovascular involvement and its longitudinal outcomes.We planned to estimate the pattern of cardiovascular involvement among children with MIS-C and its mid-term outcomes.AIM To determine association between cardiovascular abnormalities and clinical and laboratory parameters.To study the time-line for resolution of various abnormalities.METHODS In this prospective study done in a tertiary care hospital,270 were recruited from June 2020 to January 2022.Baseline demographic data and clinical presentation were recorded.Laboratory parameters and echocardiography were done at admission.Follow-up was done at 2 weeks,3 months,6 months and 1 year after diagnosis.Descriptive statistics were used for parametric and non-parametric data.Risk factors were identified by multivariate regression analysis.RESULTS The 211(78.2%)had cardiac involvement and 102 needed intensive care unit(ICU)admission.Cardiovascular abnormalities observed were shock 123(45.6%),coronary dilatation 28(10.4%),coronary aneurysm 77(28.5%),left ventricular(LV)dysfunction 78(29.3%),mitral regurgitation(MR)77(28.5%)and pericardial effusion 98(36.3%).Coronary artery aneurysm/dilatation during follow-up at 2 weeks and 1 year were 25.7%and 0.9%respectively.Multivariate regression analysis revealed breathlessness[odds ratio(OR)=3.91,95%CI:1.25-12.21,P=0.019]and hi-flow nasal cannula(HFNC)support(OR=8.5,95%CI:1.06-68.38,P=0.044)as predictors of cardiovascular involvement.Higher mean age(OR=1.16,95%CI:1.02-1.32,P=0.026),breathlessness(OR=4.99,95%CI:2.05-12.20,P<0.001),gallop(OR=4.45,95%CI:0.41-2.52,P=0.016),MR(OR=3.61,95%CI:1.53-8.53,P=0.004)and invasive ventilation(OR=4.01,95%CI:1.28-12.58,P=0.017)were predictive of LV dysfunction.Altered sensorium(OR=4.96,95%CI:2.23-11.02,P<0.001),headache(OR=6.61,95%CI:1.46-29.92,P=0.014),HFNC(OR=7.03,95%CI:2.04-24.29,P=0.002),non-rebreathing mask usage(OR=21.13,95%CI:9.00-49.61,P<0.001)and invasive ventilation(OR=5.64,95%CI:1.42-22.45,P=0.014)were risk factors for shock.Anemia was a risk factor for coronary involvement(OR=3.09,95%CI:1.79-5.34,P<0.001).CONCLUSION Significant number of children with MIS-C had cardiovascular involvement contributing to higher ICU management.Although shock resolved quickly,resolution of ventricular function and coronary abnormalities were slower,and hence warrants a structured long-term follow-up protocol. 展开更多
关键词 multisystem inflammatory syndrome in children Cardiovascular Midterm follow-up Coronary artery aneurysm Shock Left ventricular dysfunction
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Glucagon-like peptide-1 receptor agonists:Exploring the mechanisms from glycemic control to treatment of multisystemic diseases 被引量:1
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作者 Mo-Wei Kong Yang Yu +2 位作者 Ying Wan Yu Gao Chun-Xiang Zhang 《World Journal of Gastroenterology》 SCIE CAS 2024年第36期4036-4043,共8页
This editorial takes a deeper look at the insights provided by Soresi and Giannitrapani,which examined the therapeutic potential of glucagon-like peptide-1 receptor agonists(GLP-1RAs)for metabolic dysfunction-associat... This editorial takes a deeper look at the insights provided by Soresi and Giannitrapani,which examined the therapeutic potential of glucagon-like peptide-1 receptor agonists(GLP-1RAs)for metabolic dysfunction-associated fatty liver disease.We provide supplementary insights to their research,highlighting the broader systemic implications of GLP-1RAs,synthesizing the current understanding of their mechanisms and the trajectory of research in this field.GLP-1RAs are revolutionizing the treatment of type 2 diabetes mellitus and beyond.Beyond glycemic control,GLP-1RAs demonstrate cardiovascular and renal protective effects,offering potential in managing diabetic kidney disease alongside renin–angiotensin–aldosterone system inhibitors.Their role in bone metabolism hints at benefits for diabetic osteoporosis,while the neuroprotective properties of GLP-1RAs show promise in Alzheimer's disease treatment by modulating neuronal insulin signaling.Additionally,they improve hormonal and metabolic profiles in polycystic ovary syndrome.This editorial highlights the multifaceted mechanisms of GLP-1RAs,emphasizing the need for ongoing research to fully realize their therapeutic potential across a range of multisystemic diseases. 展开更多
关键词 Glucagon-like peptide-1 receptor agonists Glycemic control multisystem diseases Mechanism of action Cardiovascular protection Renal disease Bone metabolism Non-alcoholic fatty liver disease NEUROPROTECTION Polycystic ovary syndrome
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COVID-19 and cardiac complications:Myocarditis and multisystem inflammatory syndrome in children
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作者 Muhammed Gunes Oner Ozdemir 《World Journal of Cardiology》 2024年第5期260-268,共9页
Coronavirus is an important pathogen causing disease in humans and animals.At the end of 2019,an investigation into an increase in pneumonia cases in Wuhan,Hubei Province,China,found that the cause was a new coronavir... Coronavirus is an important pathogen causing disease in humans and animals.At the end of 2019,an investigation into an increase in pneumonia cases in Wuhan,Hubei Province,China,found that the cause was a new coronavirus.This disease,which spread rapidly across China and caused an outbreak worldwide,resulted in a pandemic.Although this virus has previously been referred to as 2019-nCoV,which causes coronavirus disease 2019(COVID-19),later it was named severe acute respiratory syndrome coronavirus 2.Children were usually asymptomatic and rarely severely affected.In April 2020,reports from the United Kingdom indicated that children may have Kawasaki disease or a clinical condition similar to toxic shock syndrome.This clinical picture was later defined as multisystem inflammatory syndrome in children.Since then,similarly affected children as well as cases with other cardiac complications have been reported in other parts of the world.In this review,we aimed to evaluate COVID-19 in terms of cardiac involvement by reviewing the literature. 展开更多
关键词 COVID-19 Cardiac complication MYOCARDITIS multisystem inflammatory syndrome in children SARS-CoV-2
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Esophageal ulcer and multisystem inflammatory syndrome after COVID-19:A case report
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作者 Ni Yang Zhen Liu +6 位作者 Tong Jin Hai-Wei Xin Li Gu Yue Zheng Hui-Xing Zhou Ning Li Xin-Juan Liu 《World Journal of Gastrointestinal Endoscopy》 2024年第8期483-488,共6页
BACKGROUND Multisystem inflammatory syndrome in adults(MIS-A)is a rare but severe disease occurring several weeks after severe acute respiratory syndrome coronavirus 2 infection.It develops in adults with inflammation... BACKGROUND Multisystem inflammatory syndrome in adults(MIS-A)is a rare but severe disease occurring several weeks after severe acute respiratory syndrome coronavirus 2 infection.It develops in adults with inflammation of different organs including the gastrointestinal tract,heart,kidneys,skin and hematopoietic system.CASE SUMMARY We present a 58-year-old Chinese man diagnosed with MIS-A.His chief complaints were fever,generalized fatigue and anorexia,accompanied with rashes on his back.Further examination showed cardiac,renal and liver injury.He had melena and gastroscopy indicated esophageal ulcer and severe esophagitis.Repeated blood and sputum culture did not show growth of bacteria or fungi.Antibiotic treatment was stopped due to unsatisfactory performance.His condition improved after prednisone and other supportive treatment.CONCLUSION Gastrointestinal involvement in MIS-A is not uncommon.Intestinal involvement predominates,and esophageal involvement is rarely reported.Esophageal ulcer with bleeding could also be a manifestation of MIS-A. 展开更多
关键词 multisystem inflammatory syndrome Esophageal ulcer SARS-CoV-2 Gastrointestinal bleeding Case report
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Pediatric multisystem inflammatory syndrome associated with COVID-19: Insights in pathogenesis and clinical management
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作者 Marcel Silva Luz Fabian Fellipe Bueno Lemos +5 位作者 Samuel Luca Rocha Pinheiro Hanna Santos Marques Luís Guilherme de Oliveira Silva Mariana Santos Calmon Karolaine da Costa Evangelista Fabrício Freire de Melo 《World Journal of Virology》 2023年第3期193-203,共11页
The pandemic caused by severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)infection has been a major challenge to be faced in recent years.While adults suffered the highest morbidity and mortality rates of cor... The pandemic caused by severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)infection has been a major challenge to be faced in recent years.While adults suffered the highest morbidity and mortality rates of coronavirus disease 2019,children were thought to be exclusively asymptomatic or to present with mild conditions.However,around April 2020,there was an outbreak of a new clinical syndrome related to SARS-CoV-2 in children-multisystemic inflam-matory syndrome in children(MIS-C)-which comprises a severe and uncon-trolled hyperinflammatory response with multiorgan involvement.The Centers for Disease Control and Prevention considers a suspected case of MIS-C an individual aged<21 years presenting with fever,high inflammatory markers levels,and evidence of clinically severe illness,with multisystem(>2)organ involvement,no alternative plausible diagnoses,and positive for recent SARS-CoV-2 infection.Despite its severity,there are no definitive disease management guidelines for this condition.Conversely,the complex pathogenesis of MIS-C is still not completely understood,although it seems to rely upon immune dysregu-lation.Hence,in this study,we aim to bring together current evidence regarding the pathogenic mechanisms of MIS-C,clinical picture and management,in order to provide insights for clinical practice and implications for future research directions. 展开更多
关键词 Pediatric multisystem inflammatory disease COVID-19 related multisystem inflammatory syndrome in children COVID-19 SARS-CoV-2 ETIOLOGY Disease management
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Nonalcoholic fatty liver disease-A multisystem disease? 被引量:40
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作者 Ivana Mikolasevic Sandra Milic +5 位作者 Tamara Turk Wensveen Ivana Grgic Ivan Jakopcic Davor Stimac Felix Wensveen Lidija Orlic 《World Journal of Gastroenterology》 SCIE CAS 2016年第43期9488-9505,共18页
Non-alcoholic fatty liver disease(NAFLD) is one of the most common comorbidities associated with overweight and metabolic syndrome(Met S). Importantly, NAFLD is one of its most dangerous complications because it can l... Non-alcoholic fatty liver disease(NAFLD) is one of the most common comorbidities associated with overweight and metabolic syndrome(Met S). Importantly, NAFLD is one of its most dangerous complications because it can lead to severe liver pathologies, including fibrosis, cirrhosis and hepatic cellular carcinoma. Given the increasing worldwide prevalence of obesity, NAFLD has become the most common cause of chronic liver disease and therefore is a major global health problem. Currently, NAFLD is predominantly regarded as a hepatic manifestation of Met S. However, accumulating evidence indicates that the effects of NAFLD extend beyond the liver and are negatively associated with a range of chronic diseases, most notably cardiovascular disease(CVD), diabetes mellitus type 2(T2DM) and chronic kidney disease(CKD). It is becoming increasingly clear that these diseases are the result of the same underlying pathophysiological processes associated with Met S, such as insulin resistance, chronic systemic inflammation and dyslipidemia. As a result, they have been shown to be independent reciprocal risk factors. In addition, recent data have shown that NAFLD actively contributes to aggravation of the pathophysiology of CVD, T2 DM, and CKD, as well as several other pathologies. Thus, NAFLD is a direct cause of many chronic diseases associated with MetS, and better detection and treatment of fatty liver disease is therefore urgently needed. As non-invasive screening methods for liver disease become increasingly available, detection and treatment of NAFLD in patients with MetS should therefore be considered by both(sub-) specialists and primary care physicians. 展开更多
关键词 Nonalcoholic fatty liver disease Metabolic syndrome Diabetes mellitus type 2 Cardiovascular disease Chronic kidney disease multisystem disease
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Multisystem smooth muscle dysfunction syndrome in a Chinese girl:A case report and review of the literature 被引量:2
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作者 Sai-Nan Chen Yu-Qing Wang +4 位作者 Chuang-Li Hao Yan-Hong Lu Wu-Jun Jiang Chun-Yan Gao Min Wu 《World Journal of Clinical Cases》 SCIE 2019年第24期4355-4365,共11页
BACKGROUND Multisystemic smooth muscle dysfunction syndrome(MSMDS) is a rare genetic disease worldwide. The main mutation is the actin alpha 2(ACTA2) gene p.R179 H. In this paper, we report a Chinese MSMDS patient and... BACKGROUND Multisystemic smooth muscle dysfunction syndrome(MSMDS) is a rare genetic disease worldwide. The main mutation is the actin alpha 2(ACTA2) gene p.R179 H. In this paper, we report a Chinese MSMDS patient and systematically review the previous literature.CASE SUMMARY Here, we report a 9.6-month-old Chinese girl who was diagnosed with MSMDS based on her history and symptoms, such as recurrent cough, wheezing, and complications with congenital fixed dilated pupils. Chest high-resolution computed tomography revealed inhomogeneous lung transparency, obvious exudative lesions, and some lung fissures that were markedly thickened. Cranial magnetic resonance imaging excluded bleeding and infarction but showed abnormal signals in the centrum ovale majus and bilateral periventricular regions. Echocardiography only showed patent foramen ovale, and no patent ductus arteriosus, pulmonary artery dilatation, or pulmonary hypertension was found. Bronchoscopy indicated moderate bronchial malacia. These examinations in conjunction with the typical eye abnormality suggested a diagnosis of MSMDS, and sequencing of exon 6 of the ACTA2 gene demonstrated the heterozygous mutation c.536 G>A, p.R179 H. However, her parents' gene analyses were normal.CONCLUSION MSMDS is a rare genetic disease mainly caused by the mutation of the ACTA2 gene p.R179 H. Early genetic diagnosis should be performed for children presenting with congenital fixed dilated pupils and patent ductus arteriosus.During the process of diagnosis and treatment, clinicians should be on high alert for cerebrovascular, cardiovascular, and pulmonary complications. 展开更多
关键词 multisystem smooth muscle dysfunction syndrome Gene mutation Congenital mydriasis Patent ductus arteriosus Case report
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Age-adjusted NT-proBNP could help in the early identification and follow-up of children at risk for severe multisystem inflammatory syndrome associated with COVID-19(MIS-C)
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作者 Moises Rodriguez-Gonzalez Ana Castellano-Martinez 《World Journal of Clinical Cases》 SCIE 2022年第29期10435-10450,共16页
BACKGROUND Multisystem inflammatory syndrome in children(MIS-C) has emerged as a new disease associated with COVID-19 that presents in acute critically ill children with acute cardiovascular dysfunction.AIM To determi... BACKGROUND Multisystem inflammatory syndrome in children(MIS-C) has emerged as a new disease associated with COVID-19 that presents in acute critically ill children with acute cardiovascular dysfunction.AIM To determine whether the age-adjusted N-terminal pro-brain natriuretic peptide(NT-proBNP) value(Z-log-NT-proBNP) is associated with severe MIS-C and myocardial dysfunction.METHODS A retrospective study was conducted which included children with MIS-C managed at our institution between April 1,2020,and February 28,2022.We divided the population into groups depending on severity based on pediatric intensive care unit(PICU) admission.We compared Z-log-NT-proBNP values across these groups and analyzed Z-log-NT-proBNP dynamics during the onemonth follow-up.RESULTS We included 17 participants [median age 3(2-9) years] and seven(41%) required PICU admission.All(100%) of these cases presented very high(Z-log > 4) levels of NT-proBNP at the time of admission compared to only 5(50%) patients with non-severe MIS-C(P = 0.025).NT-proBNP was significantly correlated with highsensitive Troponin I levels(P = 0.045),Ross modified score(P = 0.003) and left ventricle ejection fraction(P = 0.021).CONCLUSION Raised NT-proBNP,specifically very high values(Z-log-NT-proBNP > 4) could help in the early identification of MIS-C patients with myocardial dysfunction requiring inotropic support and PICU admission. 展开更多
关键词 multisystem inflammatory syndrome associated with COVID-19 COVID-19 SARS-CoV-2 NT-PROBNP ECHOCARDIOGRAPHY Myocardial dysfunction Children
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Multisystem Inflammatory Syndrome-Neonate: Biochemical Parameters as Early Marker of Adverse Neurodevelopmental Outcome
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作者 Perumalsathya Sankaranarayanan Harshitha Shanmuganathan +2 位作者 Devika Sanil Kumar Lal Devayani Vasudevan Nair Santosh Kamalakannan 《Open Journal of Pediatrics》 CAS 2022年第5期767-782,共16页
Background: Pregnant women and newborns are highly susceptible to Covid-19, manifesting as multisystem inflammatory syndrome-New-born (MISC-N) in many babies born to Covid positive mothers. The relationship between Co... Background: Pregnant women and newborns are highly susceptible to Covid-19, manifesting as multisystem inflammatory syndrome-New-born (MISC-N) in many babies born to Covid positive mothers. The relationship between Covid-19 infection during pregnancy and neonatal neurodevelopmental outcome, if any, is unclear necessitating a follow-up study in this aspect. Methods: 16 babies with MIS-N, born to symptomatic Covid antibody positive mothers were enrolled. Demographic profile, treatment details and biochemical parameters were analyzed with neurodevelopmental follow-up. Results: 25% mothers received 2 doses of Covid vaccine;50% had oligohydramnios and 75% received antenatal steroids. 87.5% were preterm of which 62.5% required surfactant with ventilator support and 75% required ionotropic support. Significant association was found between the antibody level and D-dimer levels with the ferritin and LDH levels of the baby (p 0.05);gestational age with LDH and D-dimer levels (p 0.05) and Covid antibody level of the baby vs the duration of ventilator requirement (P-value-0.0009). D-dimer values of babies were positively associated with both maternal antibody and D-dimer levels. Neurodevelopmental follow-up done at 6 months of corrected gestational age showed 37.5% were normal, 37.5% hypertonic and 25% hypotonic. HINE score was below 60 in 62.5%. Development assessment using Bayley-III showed a delay in the motor domain (62.5%), cognitive domain (56.25%) and language domain (62.5%). Conclusion: Neurodevelopmental problems occur in babies born to Covid positive mothers and should be stratified as “high risk”. Anticipatory guidance to prospective mothers for preterm care should be given. Covid antibody titre and D-dimer levels may help to predict the NICU stay, ventilator requirement and the adverse neurodevelopmental outcomes in these babies. 展开更多
关键词 NEURODEVELOPMENT Covid-19 Pregnancy multisystem Inflammatory Syndrome Biochemical Markers D-DIMER HINE Score
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Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children
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作者 Danyel Lee 《四川生理科学杂志》 2022年第12期2223-2223,共1页
Multisystem inflammatory syndrome in children(MIS-C)is a rare and severe condition that follows benign COVID-19.We report autosomal recessive deficiencies of OAS1,OAS2,or RNASEL in five unrelated children with MIS-C.T... Multisystem inflammatory syndrome in children(MIS-C)is a rare and severe condition that follows benign COVID-19.We report autosomal recessive deficiencies of OAS1,OAS2,or RNASEL in five unrelated children with MIS-C.The cytosolic dsRNA-sensing OAS1 and OAS2 generate 2'-5'-linked oligoadenylates(2-5A)that activate the ssRNA-degrading RNase L. 展开更多
关键词 INFLAMMATORY CHILDREN multisystem
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Treatment of multisystem inflammatory syndrome in children
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作者 Tong Tong Yi-Hua Jin +1 位作者 Min Wang Fang-Qi Gong 《World Journal of Pediatrics》 SCIE CSCD 2024年第4期325-339,共15页
Background Multisystem inflammatory syndrome in children(MIS-C),a relatively uncommon but severe pediatric complication,is associated with coronavirus disease 2019(COVID-19).A variety of treatment approaches,including... Background Multisystem inflammatory syndrome in children(MIS-C),a relatively uncommon but severe pediatric complication,is associated with coronavirus disease 2019(COVID-19).A variety of treatment approaches,including intravenous immunoglobulins(IVIGs),glucocorticoids(GCs)and biologic agents,such as anakinra and infliximab,have been described for the management of COVID-19-related MIS-C.Anticoagulant therapy is also important.However,a well-developed treatment system has not been established,and many issues remain controversial.Several recently published articles related to the treatment of MIS-C have been released.Hence,in this review,we identified relevant articles published recently and summarized the treatment of MIS-C more comprehensively and systematically.Data sources We reviewed the literature on the treatment of MIS-C through 20 September 2023.The PubMed/Medline,Web of Science,EMBASE,and Cochrane Library databases were searched with the combination of the terms"multisystem inflammatory syndrome","MIS-C","PIMS-TS","therapy","treatment","drug","IVIG","GCs","intravenous immunoglobulin","corticosteroids","biological agent",and"aspirin".Results The severity of MIS-C varies,and different treatment schemes should be used according to the specific condition.Ongoing research and data collection are vital to better understand the pathophysiology and optimal management of MIS-C.Conclusions MIS-Cis a disease involving multiple systems and has great heterogeneity.With the accumulation of additional experience,we have garnered fresh insights into its treatment strategies.However,there remains a critical need for greater standardization in treatment protocols,alongside the pressing necessity for more robust and meticulously conducted studies to deepen our understanding of these protocols. 展开更多
关键词 Coronavirus disease 2019-Corticosteroids Intravenous immunoglobulin multisystem inflammatory syndrome in children-Treatment
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Clinical practice guidelines in multisystem inflammatory syndrome(MIS-C)related to COVID-19:a critical review and recommendations 被引量:7
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作者 Alanood S.Algarni Njoud M.Alamri +3 位作者 Noor Z.Khayat Raghad A.Alabdali Rawabi S.Alsubhi Shahad H.Alghamdi 《World Journal of Pediatrics》 SCIE CAS CSCD 2022年第2期83-90,共8页
Background Multisystem inflammatory syndrome in children(MIS-C)is a serious health condition that develops from and is linked to coronavirus disease 2019.MIS-C is considered a multi-organ dysfunction involving cardiac... Background Multisystem inflammatory syndrome in children(MIS-C)is a serious health condition that develops from and is linked to coronavirus disease 2019.MIS-C is considered a multi-organ dysfunction involving cardiac,renal,respiratory,hematologic,gastrointestinal and neurological symptoms and groups of signs and symptoms such as rash or bilateral non-purulent conjunctivitis,hypotension or shock and acute gastrointestinal problems,which require immediate therapeutic intervention to prevent the aggravation of the patient’s health condition.MIS-C is relatively new in the field of evidence-based medicine;however,there are several clinical guidelines for good clinical practice.For every disorder,the guidelines have different suggestions.Hence,based on the current status of the evidence,recommendations have been combined to form a unified guideline for therapeutic management.Methods This paper compares and evaluates the current MIS-C-specific clinical practice guidelines(namely,American Academy of Pediatrics,American College of Rheumatology,Helen DeVos Children’s Hospital Foundation,Children’s Hospital of The King’s Daughters,and the Infectious Diseases Society of America).The compiled literature was then assessed by the authors separately,and an algorithm was proposed for each disorder,taking into consideration the various guidelines proposed for the management of the disorder.Results The features of MIS-C patients are unified;this is very helpful in managing its symptoms and decreasing mortality rates.In addition,recommendations for pharmacological treatment for MIS-C symptoms are formulated after cross-comparison across five different guidelines.Conclusions This study provides a general interpretation of the results in the context of other evidence and implications for future research.It proposes a unified guideline based on the current evidence,with the best potential to maintain suitable clinical standards in the Saudi Arabian Ministry of Health. 展开更多
关键词 Coronavirus disease 2019 multisystem inflammatory syndrome Pediatric multisystem inflammatory syndrome
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Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients:a rare occurrence?
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作者 Ilaria Martinelli Jessica Mandrioli +5 位作者 Andrea Ghezzi Elisabetta Zucchi Giulia Gianferrari Cecilia Simonini Francesco Cavallieri Franco Valzania 《Neural Regeneration Research》 SCIE CAS 2025年第1期130-138,共9页
Amyotrophic lateral sclerosis(ALS)is a neuromuscular condition resulting from the progressive degeneration of motor neurons in the cortex,brainstem,and spinal cord.While the typical clinical phenotype of ALS involves ... Amyotrophic lateral sclerosis(ALS)is a neuromuscular condition resulting from the progressive degeneration of motor neurons in the cortex,brainstem,and spinal cord.While the typical clinical phenotype of ALS involves both upper and lower motor neurons,human and animal studies over the years have highlighted the potential spread to other motor and non-motor regions,expanding the phenotype of ALS.Although superoxide dismutase 1(SOD1)mutations represent a minority of ALS cases,the SOD1 gene remains a milestone in ALS research as it represents the first genetic target for personalized therapies.Despite numerous single case reports or case series exhibiting extramotor symptoms in patients with ALS mutations in SOD1(SOD1-ALS),no studies have comprehensively explored the full spectrum of extramotor neurological manifestations in this subpopulation.In this narrative review,we analyze and discuss the available literature on extrapyramidal and non-motor features during SOD1-ALS.The multifaceted expression of SOD1 could deepen our understanding of the pathogenic mechanisms,pointing towards a multidisciplinary approach for affected patients in light of new therapeutic strategies for SOD1-ALS. 展开更多
关键词 amyotrophic lateral sclerosis(ALS) AUTONOMIC extramotor GENOTYPE-PHENOTYPE multisystem involvement Parkinson’s disease sensory SOD1 superoxide dismutase 1 URINARY vocal cord palsy
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Predictors of lethal outcome in patients with immunoinflammatory diseases hospitalized in the intensive care unit
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作者 Natalia N Abramova Ilia S Avrusin +6 位作者 Olga P Kozlova Liudmila A Firsova Anastasia G Kuleshova Gleb V Kondratiev Dmitry O Ivanov Yury S Aleksandrovich Mikhail M Kostik 《World Journal of Critical Care Medicine》 2025年第3期147-157,共11页
BACKGROUND Systemic immunoinflammatory diseases can affect multiple systems and organs.They have a severe course and severe complications,causing multiple organ failure and death.Quite often these patients are require... BACKGROUND Systemic immunoinflammatory diseases can affect multiple systems and organs.They have a severe course and severe complications,causing multiple organ failure and death.Quite often these patients are required to be hospitalized in the intensive care unit(ICU).Approximately 50% of patients with multisystem inflammatory syndrome associated with coronavirus disease 2019 in children and systemic lupus erythematosus need admission to the ICU.AIM To find early predictors of death in patients with immunoinflammatory diseases who are hospitalized in the ICU.METHODS The retrospective continuous cohort study included 51 patients(23 males,28 females)with immunoinflammatory diseases,including multisystem inflammatory syndrome associated with coronavirus disease 2019(n=18),systemic rheumatic diseases(n=24),and generalized infections(n=9).The patients ranged in age from 7 months to 17 years old and were admitted to the ICU of the clinic of Saint Petersburg State Pediatric Medical University from 2007 to 2023.RESULTS Thirteen patients(25.5%)died within 39(17;62)days after ICU admission.Patients with an unfavorable outcome were significantly older and were admitted to the ICU later than patients who survived(30 days vs 7 days,P=0.013)and had a longer stay in the ICU(30 days vs 6 days,P=0.003).The main predictors of the fatal outcome were age>162 months[odds ratio(OR)=10.7;95%confidence interval(CI):2.4-47.2,P=0.0006],time to ICU admission>26 days from the disease onset(OR=12.0;95%CI:2.6-55.3,P=0.008),preceding immune suppression treatment(OR=6.2;95%CI:1.6-24.0,P=0.013),invasive mycosis during the ICU stay(OR=18.8;95%CI:1.9-184.1,P=0.0005),systemic rheumatic diseases(OR=7.2;95%CI:1.7-31.1,P=0.004),and ICU stay over 15 days(OR=19.1;95%CI:4.0-91.8,P=0.00003).Multiple regression analysis(r^(2)=0.422,P<0.000002)identified two predictors of the fatal outcomes:Systemic rheumatic diseases(P=0.015)and ICU stay over 15 days(P=0.00002).CONCLUSION Identifying patients at high risk of an unfavorable outcome is the subject of the most careful monitoring and appropriate treatment program.Avoiding ICU stays for patients with systemic rheumatic diseases,close monitoring,and preventing invasive mycosis might improve the outcome in children with systemic immunemediated diseases. 展开更多
关键词 Intensive care unit Systemic inflammation Pediatric rheumatic diseases multisystem inflammatory syndrome associated with coronavirus disease 2019 Children Invasive mycosis Fatal outcomes DEATHS
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一个X连锁遗传性耳聋2型致病基因POU3F4新突变致多系统临床表现的研究
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作者 刘硕 齐心 +3 位作者 黄莎莎 戴朴 张帆 苏钰 《中华耳科学杂志》 北大核心 2025年第2期240-247,共8页
目的研究POU3F4基因新突变在不完全分隔Ⅲ型内耳畸形中的致病作用及与多系统功能障碍的关系。方法对先证者进行详细的病史采集、全面的体格检查、听力学评估、影像学检查、激素水平检测,以及全外显子测序和家系验证。结果该家系符合X连... 目的研究POU3F4基因新突变在不完全分隔Ⅲ型内耳畸形中的致病作用及与多系统功能障碍的关系。方法对先证者进行详细的病史采集、全面的体格检查、听力学评估、影像学检查、激素水平检测,以及全外显子测序和家系验证。结果该家系符合X连锁隐性遗传模式,先证者听力学表现为双侧极重度感音神经性聋,影像学显示典型的不完全分隔Ⅲ型内耳畸形,同时伴有生长发育迟缓、睾丸发育不全、垂体高度减小、注意力缺陷等内分泌和神经发育问题。实验室检查显示先证者下丘脑-垂体-内分泌轴的多项功能异常。全外显子测序发现了POU3F4基因的新突变c.401_404dup(p.Gln136Leufs*58),符合基因型与表型共分离。结论POU3F4基因变异可能导致多系统功能障碍,但POU3F4基因变异相关的综合征性听力损失的定义和治疗策略尚需要进一步研究和验证。 展开更多
关键词 X连锁遗传性耳聋2型 POU3F4基因 不完全分隔Ⅲ型内耳畸形 多系统临床症状
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Multisystem inflammatory syndrome in pediatric COVID-19 patients:a meta-analysis 被引量:4
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作者 Eman A.Toraih Mohammad H.Hussein +8 位作者 Rami M.Elshazli Adam Kline Ruhul Munshi Nasrin Sultana Sharven Taghavi Mary Killackey Juan Duchesne Manal S.Fawzy Emad Kandil 《World Journal of Pediatrics》 SCIE CAS CSCD 2021年第2期141-151,共11页
Background We aimed to systematically review the clinical and laboratory features of patients with the multisystem inflam-matory syndrome in pediatrics diagnosed during the COVID-19 pandemic.Data sources A literature ... Background We aimed to systematically review the clinical and laboratory features of patients with the multisystem inflam-matory syndrome in pediatrics diagnosed during the COVID-19 pandemic.Data sources A literature search in Web of Science,PubMed,Scopus,and Science Direct was made up to June 29,2020.Results Analysis of 15 articles(318 COVID-19 patients)revealed that although many patients presented with the typical multisystem inflammatory syndrome in pediatrics,Kawasaki-like features as fever(82.4%),polymorphous maculopapular exanthema(63.7%),oral mucosal changes(58.1%),conjunctival injections(56.0%),edematous extremities(40.7%),and cervical lymphadenopathy(28.5%),atypical gastrointestinal(79.4%)and neurocognitive symptoms(31.8%)were also com-mon.They had elevated serum lactic acid dehydrogenase,D-dimer,C-reactive protein,procalcitonin,interleukin-6,troponin I levels,and lymphopenia.Nearly 77.0%developed hypotension,and 68.1%went into shock,while 41.1%had acute kidney injury.Intensive care was needed in 73.7%of cases;13.2%were intubated,and 37.9%required mechanical ventilation.Intravenous immunoglobulins and steroids were given in 87.7%and 56.9%of the patients,respectively,and anticoagulants were utilized in 67.0%.Pediatric patients were discharged after a hospital stay of 6.77 days on average(95%CI 4.93-8.6).Conclusions Recognizing the typical and atypical presentation of the multisystem inflammatory syndrome in pediatric COVID-19 patients has important implications in identifying children at risk.Monitoring cardiac and renal decompensation and early interventions in patients with multisystem inflammatory syndrome is critical to prevent further morbidity. 展开更多
关键词 COVID-19 Kawasaki-like syndrome multisystem inflammatory syndrome in pediatrics SARS-CoV-2
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A simple, universal theory and method for computer plotting of stable equilibrium phase diagrams of a multisystem——SFM method 被引量:1
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作者 胡家文 殷辉安 唐明林 《Science China Chemistry》 SCIE EI CAS 2000年第2期215-224,共10页
A new easy method has been presented to calculate the variable intervals corresponding to the stable univariant curves and to discriminate the stabilities of invariant points. This method and the one reported previous... A new easy method has been presented to calculate the variable intervals corresponding to the stable univariant curves and to discriminate the stabilities of invariant points. This method and the one reported previously constitute a simple and universal theory for the computer-plotting of the equilibrium phase diagrams of a multisystem—sign function matrix (SFM) discrimination method. Its main steps are: determining the stable univariant scheme according to the derivative (or difference) of AIG m ; grouping the univariant curves by comparisons of the mutual relations among them; determining the existing intervals of the variables for the stable curves by comparisons of coordinate values of the curves about the invariant point; determining the stabilities of invariant points by comparisons of relations between the common curves and the invariant points. This method is suitable for any kind of phase diagram of closed or open systems in a phase diagram “space” with either 2 or more than 2 dimensions. 展开更多
关键词 multisystem computer-plotting of a phase DIAGRAM stability of INVARIANT point SIGN function DISCRIMINATION matrix.
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肌肉减少症与骨质疏松症关联情况的研究进展 被引量:2
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作者 廖芋霖(综述) 邢叔星(审校) 《临床骨科杂志》 2025年第1期146-151,共6页
肌肉减少症(简称肌少症)因可导致老年人跌倒、骨折、残疾甚至死亡等不良后果受到诸多研究者关注。骨质疏松症是老年人常见疾病,常因轻微活动就可诱发骨折,严重影响了老年人晚年生活质量,更有甚者可危及生命。肌少症与骨质疏松症之间有... 肌肉减少症(简称肌少症)因可导致老年人跌倒、骨折、残疾甚至死亡等不良后果受到诸多研究者关注。骨质疏松症是老年人常见疾病,常因轻微活动就可诱发骨折,严重影响了老年人晚年生活质量,更有甚者可危及生命。肌少症与骨质疏松症之间有着相似的致病因素和病理生理基础,常同时出现,并且与人体各个系统疾病都有一定程度的关联。该文从人体各系统出发,对肌少症和骨质疏松症在不同系统疾病背景下关联情况的研究进展进行综述,旨在为肌少-骨质疏松症的整体认识提供新思路。 展开更多
关键词 肌肉减少症 骨质疏松症 多系统疾病
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Severe acute respiratory syndrome coronavirus 2-induced multisystem inflammatory syndrome in children 被引量:3
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作者 Zhiguan Feng Yanmin Bao +2 位作者 Yonghong Yang Yuejie Zheng Kunling Shen 《Pediatric Investigation》 CSCD 2020年第4期257-262,共6页
Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)-induced multisystem inflammatory syndrome in children(MIS-C)is a life-threatening illness that has been reported in the United States and Europe.It affects m... Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)-induced multisystem inflammatory syndrome in children(MIS-C)is a life-threatening illness that has been reported in the United States and Europe.It affects multiple organ systems and often requires patient admission to an intensive care unit.Although some features of MIS-C overlap with Kawasaki disease,MIS-C is more common among older children and adolescents,more often affects cardiovascular and gastrointestinal systems,and more frequently presents with elevated inflammatory markers.Rapid and complete clinical recovery is possible in nearly all patients following immunomodulation therapy.Thus far,MIS-C pathophysiology and long-term prognosis are not sufficiently clear;further studies are needed. 展开更多
关键词 multisystem inflammatory syndrome in children Kawasaki-like disease COVID-19 SARS-CoV-2
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综合创伤一体化急救模式的临床应用研究 被引量:1
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作者 罗兆雄 李少霞 +2 位作者 钱景程 梁剑锋 张世魁 《同济大学学报(医学版)》 2025年第4期577-581,共5页
目的评估在严重创伤急救中应用综合创伤一体化急救模式的临床效果。方法回顾性分析2022年5月-2024年5月在广东省中西医结合医院急诊科就诊的104例严重创伤患者,按照实施综合创伤一体化急救模式的时间节点,将患者分为实施前组和实施后组... 目的评估在严重创伤急救中应用综合创伤一体化急救模式的临床效果。方法回顾性分析2022年5月-2024年5月在广东省中西医结合医院急诊科就诊的104例严重创伤患者,按照实施综合创伤一体化急救模式的时间节点,将患者分为实施前组和实施后组,每组各52例。实施前组采用常规治疗模式,实施后组采用综合创伤一体化急救模式。分别比较综合创伤一体化急救模式实施前后患者在抢救成功率、抢救时间、各种并发症的发生率、血清炎症因子的表达等方面的差异。结果综合创伤一体化急救模式实施后患者抢救成功率高于实施前(χ^(2)=15.145,P<0.05),抢救时间(t=3.879,P<0.05)、辅助检查时间(t=2.252,P<0.05)和急诊接诊到手术时间(t=2.807,P<0.05)均缩短,总并发症发生率(χ^(2)=15.592,P<0.05),包括感染(χ^(2)=4.300,P=0.038)、失血性休克(χ^(2)=6.190,P=0.013)、多器官功能障碍综合征(multiple organ dysfunction syndrome,MODS)(χ^(2)=0.153,P=0.696)发生率均低于综合创伤一体化急救模式实施前。该模式实施后,患者各种炎症因子如C反应蛋白(C-reactire protein,CRP)、降钙素原(procalcitonin,PCT)的水平在治疗后明显下降(P<0.05)。结论综合创伤一体化急救模式在严重创伤的急救中疗效显著,能够提高患者的抢救成功率,节约抢救时间,降低并发症的发生率,值得在临床急救中推广应用。 展开更多
关键词 创伤 急救模式 多系统损伤 并发症
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