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1.
Immunity ; 54(1): 164-175.e6, 2021 01 12.
Artigo em Inglês | MEDLINE | ID: mdl-33382973

RESUMO

Patients suffering from Coronavirus disease 2019 (COVID-19) can develop neurological sequelae, such as headache and neuroinflammatory or cerebrovascular disease. These conditions-termed here as Neuro-COVID-are more frequent in patients with severe COVID-19. To understand the etiology of these neurological sequelae, we utilized single-cell sequencing and examined the immune cell profiles from the cerebrospinal fluid (CSF) of Neuro-COVID patients compared with patients with non-inflammatory and autoimmune neurological diseases or with viral encephalitis. The CSF of Neuro-COVID patients exhibited an expansion of dedifferentiated monocytes and of exhausted CD4+ T cells. Neuro-COVID CSF leukocytes featured an enriched interferon signature; however, this was less pronounced than in viral encephalitis. Repertoire analysis revealed broad clonal T cell expansion and curtailed interferon response in severe compared with mild Neuro-COVID patients. Collectively, our findings document the CSF immune compartment in Neuro-COVID patients and suggest compromised antiviral responses in this setting.


Assuntos
COVID-19/imunologia , Monócitos/imunologia , Doenças do Sistema Nervoso/imunologia , Linfócitos T/imunologia , COVID-19/líquido cefalorraquidiano , COVID-19/complicações , COVID-19/patologia , Diferenciação Celular , Líquido Cefalorraquidiano/imunologia , Encefalite Viral/líquido cefalorraquidiano , Encefalite Viral/imunologia , Perfilação da Expressão Gênica , Humanos , Interferons/genética , Interferons/imunologia , Leucócitos/imunologia , Ativação Linfocitária , Doenças do Sistema Nervoso/líquido cefalorraquidiano , Doenças do Sistema Nervoso/etiologia , Doenças do Sistema Nervoso/patologia , Receptores de Antígenos de Linfócitos T/genética , Receptores de Antígenos de Linfócitos T/metabolismo , SARS-CoV-2/imunologia , Análise de Célula Única
2.
Rheumatology (Oxford) ; 63(1): 85-92, 2024 Jan 04.
Artigo em Inglês | MEDLINE | ID: mdl-37094184

RESUMO

OBJECTIVE: The current analysis of the MAXIMISE trial was conducted to investigate the presence of post-inflammatory and degenerative spinal changes and inflammatory changes in spinal processes identified in baseline MRIs and their potential for predicting differential treatment effects in a cohort of PsA patients with axial manifestations. METHODS: Baseline spinal MRIs from the MAXIMISE trial were re-read to identify additional inflammatory (spinal process), post-inflammatory, and degenerative changes, and investigate the differential treatment effect of these imaging features using logistic regression modelling. RESULTS: In addition to bone marrow oedema assessed at primary analysis, spinal process inflammation and post-inflammatory changes evaluated by FAt Spondyloarthritis Spine Score were documented in 11.1% and 20.2% patients, respectively. At least one type of degenerative change was noted in 64% patients, with Pfirrmann grade ≥3 (51.1%) being the most common. Combining primary and re-read MRI findings, 67.1% of patients presented with inflammatory or post-inflammatory changes while 21.2% had degenerative changes alone. Although not statistically significant, post-inflammatory changes were associated with a trend for better efficacy outcomes in terms of ASAS20, ASAS40 and BASDAI50 responses; a trend for worse outcomes was observed in the presence of degenerative changes. CONCLUSION: The current analysis revealed the occurrence of additional inflammatory and post-inflammatory changes suggestive of axial PsA (axPsA) and a trend for better clinical outcomes for patients treated with secukinumab. These results elucidate the imaging characteristics and improve our current understanding of axPsA thereby supporting the interpretation of future trials. TRIAL REGISTRATION: ClinicalTrials.gov, NCT02721966.


Assuntos
Artrite Psoriásica , Espondilartrite , Humanos , Artrite Psoriásica/diagnóstico por imagem , Artrite Psoriásica/tratamento farmacológico , Artrite Psoriásica/complicações , Inflamação/complicações , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/patologia , Espondilartrite/diagnóstico por imagem , Espondilartrite/tratamento farmacológico , Espondilartrite/complicações , Imageamento por Ressonância Magnética/métodos
3.
Rheumatology (Oxford) ; 63(3): 891-900, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37382568

RESUMO

OBJECTIVE: This study investigates the positivity and relevance of non-criteria aPLs with clinical phenotypes in patients highly suspected of or diagnosed with APS. METHODS: Outpatient cases were included from a prospectively maintained database, and patients were grouped into APS (n = 168), seronegative APS (SNAPS, n = 9), those meeting the diagnostic criteria for clinical events without laboratory results (only-event, n = 15), those that had aPL positivity without clinical manifestations (asymptomatic APA, n = 39), and healthy controls (n = 88). Criteria aPL results and APS-related clinical features were extracted. Sixteen non-criteria aPLs were tested and analysed. RESULTS: LA, aCL and anti-ß2 glycoprotein-I were positive in 84.5%, 61.3% and 74.4% of APS patients, and 61.5%, 59.0% and 74.4% of asymptomatic APA patients, respectively. In patients negative for criteria serological tests, 23 out of 24 were positive for at least one non-criteria aPL. Triple-positive patients also had significantly higher tests of some aPLs in comparison with other groups. Stroke was associated with anti-phosphatidyl-inositol (aPI) IgG and anti-phosphatidyl-glycerol (aPG) IgG. Late embryonic loss correlated with aPI IgM, and premature birth/eclampsia was associated with aPI IgG and aPG IgG. There were also positive associations between heart valve lesions and anti-phosphatidylserine-prothrombin (aPS/PT) IgM, APS nephropathy and anti-phosphatidyl-choline IgG or aPS/PT IgG, and livedo reticularis and anti-phosphatidyl-ethanolamine IgM. CONCLUSION: The prevalence of non-criteria aPLs differed from diagnostic biomarkers in patients diagnosed with or suspected of APS. Detection of aPLs provided additive value in the evaluation of APS-related clinical manifestations.


Assuntos
Anticorpos Antifosfolipídeos , Síndrome Antifosfolipídica , Feminino , Gravidez , Humanos , Síndrome Antifosfolipídica/complicações , Relevância Clínica , Protrombina , Imunoglobulina G , Imunoglobulina M
4.
Rheumatology (Oxford) ; 63(3): 809-816, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37267146

RESUMO

OBJECTIVES: Anti-melanoma differentiation-associated gene 5 antibody-positive (anti-MDA5+) DM complicated by rapidly progressive interstitial lung disease (RP-ILD) has a high incidence and poor prognosis. The objective of this study was to establish a model for the prediction and early diagnosis of anti-MDA5+ DM-associated RP-ILD based on clinical manifestations and imaging features. METHODS: A total of 103 patients with anti-MDA5+ DM were included. The patients were randomly split into training and testing sets of 72 and 31 patients, respectively. After image analysis, we collected clinical, imaging and radiomics features from each patient. Feature selection was performed first with the minimum redundancy and maximum relevance algorithm and then with the best subset selection method. The final remaining features comprised the radscore. A clinical model and imaging model were then constructed with the selected independent risk factors for the prediction of non-RP-ILD and RP-ILD. We also combined these models in different ways and compared their predictive abilities. A nomogram was also established. The predictive performances of the models were assessed based on receiver operating characteristics curves, calibration curves, discriminability and clinical utility. RESULTS: The analyses showed that two clinical factors, dyspnoea (P = 0.000) and duration of illness in months (P = 0.001), and three radiomics features (P = 0.001, 0.044 and 0.008, separately) were independent predictors of non-RP-ILD and RP-ILD. However, no imaging features were significantly different between the two groups. The radiomics model built with the three radiomics features performed worse than the clinical model and showed areas under the curve (AUCs) of 0.805 and 0.754 in the training and test sets, respectively. The clinical model demonstrated a good predictive ability for RP-ILD in MDA5+ DM patients, with an AUC, sensitivity, specificity and accuracy of 0.954, 0.931, 0.837 and 0.847 in the training set and 0.890, 0.875, 0.800 and 0.774 in the testing set, respectively. The combination model built with clinical and radiomics features performed slightly better than the clinical model, with an AUC, sensitivity, specificity and accuracy of 0.994, 0.966, 0.977 and 0.931 in the training set and 0.890, 0.812, 1.000 and 0.839 in the testing set, respectively. The calibration curve and decision curve analyses showed satisfactory consistency and clinical utility of the nomogram. CONCLUSION: Our results suggest that the combination model built with clinical and radiomics features could reliably predict the occurrence of RP-ILD in MDA5+ DM patients.


Assuntos
Doenças Pulmonares Intersticiais , Radiômica , Humanos , Nomogramas , Algoritmos , Doenças Pulmonares Intersticiais/diagnóstico por imagem , Doenças Pulmonares Intersticiais/etiologia , Tomografia Computadorizada por Raios X
5.
Artigo em Inglês | MEDLINE | ID: mdl-39110542

RESUMO

OBJECTIVES: Rheumatoid arthritis (RA) is sometimes complicated by interstitial lung disease (ILD) with a poor prognosis. A single nucleotide variant (SNV) in MUC5B was associated with ILD in European RA patients. However, associations of this SNV were not found in Japanese RA patients, because its frequency in Japanese populations is very low. We investigated the associations of candidate SNVs including the MUC5B variant with ILD in Japanese RA. METHODS: Genotyping of MUC5B rs35705950, MUC2 rs7934606, MAD1L1 rs12699415, and PPFIBP2 rs6578890 in Japanese RA patients was conducted for association analyses. RESULTS: MUC5B rs35705950 was associated with usual interstitial pneumonia (UIP) (p = 0.0039, Pc = 0.0156, odds ratio [OR] 10.66, 95% confidence interval [CI] 2.05-55.37) or ILD (p = 0.0071, Pc = 0.0284, OR 7.33, 95%CI 1.52-35.44) in Japanese RA under the allele model. MUC2 rs7934606 was associated with UIP (p = 0.0072, Pc = 0.0288, OR 29.55, 95%CI 1.52-574.57) or ILD (p = 0.0037, Pc = 0.0148, OR 22.95, 95%CI 1.27-416.13) in RA. Haplotype analyses suggested the primary association of MUC5B rs35705950 with UIP in Japanese RA. No significant association of MAD1L1 rs12699415 or PPFIBP2 rs6578890 with UIP, nonspecific interstitial pneumonia, or ILD in RA was observed. CONCLUSIONS: MUC5B rs35705950 is associated with, and might be involved in the pathogenesis of ILD, especially UIP, in Japanese RA.

6.
Connect Tissue Res ; 65(3): 214-225, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38602424

RESUMO

PURPOSE: Congenital contractural arachnodactyly (CCA) is an extremely rare autosomal dominant connective tissue genetic disorder caused by pathogenic variants in FBN2. CCA is characterized by arachnodactyly, camptodactyly, contracture of major joints, scoliosis, pectus deformities, and crumpled ears, but rarely with lethal cardiovascular manifestations as in Marfan syndrome. It is imperative to conduct a comprehensive analysis and review of the pathogenesis of CCA resulting from pathogenic variants in FBN2 gene. MATERIALS AND METHODS: Using whole-exome sequencing and Sanger sequencing, we identified a novel pathogenic splice-altering variant (c.4472-3C>A) in intron 34 of FBN2 gene in a CCA pedigree. The transcriptional result of the splicing-altering variant was analyzed by RNA sequencing. We systematically analyzed the clinical manifestations of all reported cases of CCA caused by splicing-altering pathogenic variants and focused on all the pathogenic variants in FBN2 gene that are associated with severe cardiovascular manifestations. RESULTS: The splice-altering variant (c.4472-3C>A) in FBN2 was demonstrated to result in the exon 35 skipping and cause an in-frame deletion. Furthermore, we identified exons 31 to 35 may be a hotspot region in FBN2 gene associated with severe cardiovascular phenotype. CONCLUSIONS: This study enriched the pathogenic spectrum of CCA and identified a hotspot region in FBN2 gene associated with severe cardiovascular manifestations. We recommend that patients carrying pathogenic variants in exons 31 to 35 of FBN2 pay more attention to cardiac evaluation.


Assuntos
Aracnodactilia , Contratura , Fibrilina-2 , Fibrilina-2/genética , Humanos , Aracnodactilia/genética , Aracnodactilia/patologia , Contratura/genética , Contratura/patologia , Masculino , Feminino , Linhagem , Mutação
7.
Rev Med Virol ; 33(3): e2432, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36807958

RESUMO

According to the World Health Organisation, as of October 2022, there have been 55,560,329 reported cases of SARS-COV-2 in patients under 19 years old. It is estimated that about 0.06% of these patients may develop MIS-C, representing more than 2 million children worldwide. This systematic review and meta-analysis examined the pooled prevalence of cardiovascular manifestation and cardiac complications in children hospitalised with MIS-C. The PROSPERO register number is CRD42022327212. We included case-report studies, case-control studies, cohort studies, and cross-sectional studies, as well as clinical trials or studies describing cardiac manifestations of MIS-C and its sequelae in a paediatric population. Initially, 285 studies were selected, but there were 154 duplicates, and 81 were excluded because they did not fit the eligibility criteria. Thus, 50 studies were selected for review, and 30 were included in the meta-analysis. A total sample size of 1445 children was included. The combined prevalence of myocarditis or pericarditis was 34.3% (95% CI: 25.0%-44.2%). The combined prevalence for echocardiogram anomalies was 40.8% (95% CI: 30.5%-51.5%), that of Kawasaki disease presentation was 14.8% (95% CI: 7.5%-23.7%), and that of coronary dilation was 15.2% (95% CI: 11.0%-19.8%). The rate of electrocardiogram anomalies was 5.3% (95% CI: 0.8%-12.3%), and the mortality rate was 0.5% (CI 95%: 0%-1.2%). Furthermore, 186 children still had complications at discharge, with a combined prevalence of such long-lasting manifestations of 9.3% (95% CI: 5.6%-13.7%). Studies that assess whether these children will have an increased cardiovascular risk with a greater chance of acute myocardial infarction, arrhythmias, or thrombosis will be essential for healthcare planning.


Assuntos
COVID-19 , Miocardite , Adulto , Criança , Humanos , Adulto Jovem , COVID-19/complicações , Miocardite/complicações , SARS-CoV-2
8.
Transfus Apher Sci ; 63(3): 103921, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38614915

RESUMO

INTRODUCTION: Due to their low frequency, there is little information on the molecular pathologies of rare bleeding disorders (RBD). Therefore, this study aimed to analyze the molecular and clinical profiles of patients with RBD. METHODS: A retrospective single-center study was conducted among patients with factor (F) II, FVII, FX, and FXIII deficiencies between March 20, 2000, and June 31, 2023. Data on patient demographics, genetic analysis, and laboratory results were documented for all patients. The disease severity was classified according to the clotting factor activity (except FXIII) as follows: >5%: mild, 1-5%: moderate, and <1%: severe. RESULTS: A total of 79 patients were enrolled in this study. Three of the cases had FII (3.7%), 40 had FVII (50.6%), 20 had FX (25.3%), and 16 had FXIII deficiency (20.2%). The median age of the patients at the time of diagnosis was six months for FII, 6.5 years for FVII, five months for FX, and 5.75 months for FXIII deficiencies, respectively. The major clinical manifestations were bruising, epistaxis, oral cavity bleeding, ecchymosis, and hemarthrosis. Consanguinity was present in 60 (76%) of patients. The majority of the patients had missense mutations. FVII mutations occurred primarily in exon 6, FX mutations affected mainly exons 2 and 7, and the majority of FXIII mutations occurred in exons 3 and 4. CONCLUSION: The diagnosis of the causative mutations in patients with RBD provides an insight into the underlying molecular basis of these disorders and probably explains their variable clinical manifestations.


Assuntos
Doenças Raras , Humanos , Estudos Retrospectivos , Masculino , Feminino , Criança , Lactente , Pré-Escolar , Adolescente
9.
BMC Womens Health ; 24(1): 265, 2024 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-38678281

RESUMO

BACKGROUND: Enterobius vermicularis (E. vermicularis), also referred to as pinworm, is a widespread human intestinal parasite which predominantly occurs in young children, making their caretakers a population at risk for the transmission of this helminth. It can occasionally affect extraintestinal organs and tissues, including the female genital tract. Infestation can be asymptomatic or manifest as different kinds of gynaecological disorders, such as pelvic inflammation mimicking tumours, abnormal uterine bleeding, or vaginitis. Diagnosis is made by identifying ova in the sample collected from the perineal skin using a transparent adhesive tape or microscopic examination of resected tissue. Mebendazole is the first-line medication and should also be administered to all household members. CASE PRESENTATION: We present a case of a patient who had undergone surgery for invasive cervical cancer with an accidental finding of E. vermicularis eggs in the cervix. CONCLUSIONS: Although not very common, infestation with E. vermicularis should be considered in differential diagnoses of various gynaecological disorders accompanied by histological findings of granulomatous inflammation.


Assuntos
Enterobíase , Enterobius , Neoplasias do Colo do Útero , Humanos , Feminino , Enterobíase/diagnóstico , Enterobíase/complicações , Neoplasias do Colo do Útero/diagnóstico , Neoplasias do Colo do Útero/cirurgia , Enterobius/isolamento & purificação , Animais , Mebendazol/uso terapêutico , Colo do Útero/parasitologia , Colo do Útero/patologia , Diagnóstico Diferencial , Pessoa de Meia-Idade , Adulto
10.
Rheumatol Int ; 2024 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-39167172

RESUMO

OBJECTIVES: This cross-sectional study aimed to determine the prevalence, manifestation, and risk factors of pulmonary involvement in newly diagnosed, untreated rheumatoid arthritis (RA) and psoriatic arthritis (PsA) patients, and to evaluate the efficacy of various diagnostic tools in screening for pulmonary involvement. METHODS: Untreated, newly diagnosed patients with RA and PsA underwent an extensive multimodal diagnostic approach including clinical and laboratory assessment, pulmonary function tests, and chest radiography. RESULTS: We recruited 50 arthritis patients (26 RA, 24 PsA) and 26 control subjects. Respiratory symptoms were found in 36.0 % of arthritis patients and 11.5 % of controls (p = 0.031). Pathologically reduced breathing width (< 3.0 cm) was significantly more common in arthritis patients (64.0 %) than in controls (23.1 %) (p < 0.001). Pulmonary function test results did not differ significantly between groups. Chest radiography revealed pulmonary involvement in 37.0 % of arthritis patients, higher in RA (50.0 %) than in PsA (22.7 %). Notably, only 35.3 % of arthritis patients with radiographic pulmonary involvement were symptomatic, with 64.7 % being asymptomatic. Radiographic pulmonary involvement was associated with advanced age (p = 0.002) and increased rheumatoid factor levels (p = 0.024). CONCLUSION: Our research underscores the significant prevalence of largely asymptomatic pulmonary involvement in newly diagnosed RA and PsA patients. These findings highlight the importance of an early, multidisciplinary screening approach, particularly for high-risk individuals. Further large-scale studies are needed to develop comprehensive screening protocols to improve early detection and treatment of pulmonary involvement in arthritis.

11.
Mycoses ; 67(1): e13652, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37605217

RESUMO

Fusarium species are an emerging cause of onychomycosis, and the number of cases has dramatically increased in recent decades worldwide. This review presents an overview of the onychomycosis cases caused by Fusarium species and diagnosis and treatment that have been reported in the literature. The most common causative agent of onychomycosis is F. solani species complex, which accounts for 11.68% of the cases of Fusarium onychomycosis, followed by the F. oxysporum species complex (164 out of 1669), which is accounted for 9.83% of the total. F. fujikuroi species complex (42 out of 1669) and F. dimerum species complex (7 out of 1669) are responsible for 2.52% and 0.42 cases, respectively. Fusarium nail infections were reported in patients aged range 1-98, accounting for 5.55% (1669 out of 30082) of all cases. Asia has the highest species diversity of Fusarium onychomycosis (31.51%). South America accounts for 21.09%, and the most common causative agent is F. solani (19.32%), followed by F. oxysporum species complex (15.63%). Europe accounts for 4.90% of cases caused by F. oxysporum, followed by F. solani. Africa accounts for 23.87% of the cases due to the F. solani species complex, followed by F. oxysporum and F. fujikuroi. Distal and lateral subungual onychomycosis was the most common clinical symptom accounting for 58.7% (135 out of 230) of the cases. Data analysis relieved that terbinafine and itraconazole are active treatments for Fusarium onychomycosis. For a definitive diagnosis, combining of direct examination, culture and sequencing of the elongation factor of translation 1α are recommended. Accurate identification of the causative agents of onychomycosis due to Fusarium species and antifungal susceptibility testing is essential in patient management.


Assuntos
Fusariose , Fusarium , Onicomicose , Humanos , Lactente , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Onicomicose/diagnóstico , Onicomicose/tratamento farmacológico , Onicomicose/epidemiologia , Antifúngicos/uso terapêutico , Itraconazol/uso terapêutico , Fusariose/diagnóstico , Fusariose/tratamento farmacológico , Fusariose/epidemiologia
12.
BMC Public Health ; 24(1): 1975, 2024 Jul 23.
Artigo em Inglês | MEDLINE | ID: mdl-39044209

RESUMO

INTRODUCTION: Identifying clinical factors that increase the risk of mortality in COVID-19 patients is crucial. This enables targeted screening, optimizing treatment, and prevention of severe complications, ultimately reducing death rates. This study aimed to develop prediction models for the death of patients (i.e., survival or death) during the COVID-19 pandemic in Shiraz, exploring the main influencing factors. METHOD: We conducted a retrospective cohort study using hospital-based records of 1030 individuals diagnosed with COVID-19, who were hospitalized for treatment between March 21, 2021, and March 21, 2022, in Shiraz, Iran. Variables related to the final outcome were selected based on criteria and univariate logistic regression. Hierarchical multiple logistic regression and classification and regression tree (CART) models were utilized to explore the relationships between potential influencing factors and the final outcome. Additionally, methods were employed to identify the high-risk population for increased mortality rates during COVID-19. Finally, accuracy was evaluated the performance of the models, with the area under the receiver operator characteristic curve(AUC), sensitivity, and specificity metrics. RESULTS: In this study, 558 (54.2%) individuals infected with COVID-19 died. The final model showed that the type of medicine antiviral (OR: 11.10, p = 0.038) than reference (antiviral and corticosteroid), and discharge oxygen saturation(O2) (OR: 1.10, p < 0.001) had a positive association with the chance of survival, but other variables were not considered as predictive variables. Predictive models for the final outcome(death) achieved accuracies ranging from 81 to 87% for hierarchical multiple logistic regression and from 87 to 94% for the CART model. Therefore, the CART model performed better than the hirerical multiple logistic regression model. CONCLUSION: These findings firstly elucidate the incidence and associated factors of the outcome (death) among patients in Shiraz, Iran. Furthermore, we demonstrated that antiviral medication alone (without corticosteroids) and high O2 increase the survival chances of COVID patients.


Assuntos
COVID-19 , Humanos , COVID-19/mortalidade , COVID-19/epidemiologia , Masculino , Feminino , Irã (Geográfico)/epidemiologia , Estudos Retrospectivos , Pessoa de Meia-Idade , Adulto , Idoso , Fatores de Risco , Modelos Logísticos , Análise de Regressão , SARS-CoV-2 , Pandemias
13.
BMC Pediatr ; 24(1): 532, 2024 Aug 20.
Artigo em Inglês | MEDLINE | ID: mdl-39164659

RESUMO

BACKGROUND: Alagille syndrome (ALGS) is a multisystem genetic disorder frequently characterized by hepatic manifestations. This study analyzed the clinical, pathological, and molecular genetic features of ALGS to improve the efficiency of clinical diagnosis. METHODS: We retrospectively analyzed the clinical manifestations, pathological examination findings, and genetic testing results of 17 children diagnosed with ALGS based on the revised criteria and hospitalized at our center from January 2012 to January 2022. RESULTS: The clinical manifestations are as follows: Cholestasis (16/17, 94%), characteristic facies (15/17, 88%), heart disease (12/16, 75%), butterfly vertebrae (12/17, 71%) and posterior embryotoxon (7/12, 58%). Among the 15 patients who underwent liver pathology examination, 13 (87%) were found to have varying degrees of bile duct paucity. Genetic testing was performed on 15 children, and pathogenic variants of the jagged canonical Notch ligand 1 (JAG1) gene were identified in 13 individuals, including 4 novel variants. No pathogenic variant in the notch homolog 2 (NOTCH2) gene were identified, and 2 children exhibited none of the aforementioned gene pathogenic variants. The median follow-up duration was 7 years. Of the remaining 15 patients (excluding 2 lost to follow-up), 11 remained stable, 4 deteriorated, and no patient died during the follow-up period. CONCLUSIONS: Among children diagnosed with ALGS, cholestasis stands as the most common feature. To minimize the risk of misdiagnosis, genetic testing should be performed on children exhibiting cholestasis, followed by the application of the revised diagnostic criteria for ALGS. While pharmacological therapy has shown effectiveness for ALGS patients, liver transplantation may be considered in instances of severe pruritus.


Assuntos
Síndrome de Alagille , Testes Genéticos , Proteína Jagged-1 , Humanos , Síndrome de Alagille/genética , Síndrome de Alagille/diagnóstico , Masculino , Feminino , Estudos Retrospectivos , Pré-Escolar , Lactente , Proteína Jagged-1/genética , Criança , Colestase/genética
14.
Public Health ; 229: 57-62, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38401193

RESUMO

OBJECTIVE: The present study aims to explore the effect of COVID-19 infection on pregnant women in plateau regions. STUDY DESIGN: Data from 381 pregnant women infected with COVID-19 who underwent prenatal examination or treatment at Women and Children's Hospital of Tibet Autonomous Region between January 2020 and December 2022 and 314 pregnant women not infected with COVID-19 were retrospectively collected. METHODS: The study participants were divided into an infected and non-infected group according to whether they were infected with COVID-19. Basic information (ethnicity, age, body mass index and gestational age [GA]), vaccination status, intensive care unit (ICU) admission and delivery outcomes were compared. Binary logistic regression was used to analyse the influencing factors of ICU admission. RESULTS: The results revealed significant differences in the GA, vaccination rate, blood pressure, partial pressure of oxygen, white blood cell (WBC) count, ICU admission rate, preeclampsia rate, forearm presentation rate, thrombocytopenia rate, syphilis infection rate and placental abruption rate between the two groups (P < 0.05). A univariate analysis showed that COVID-19 infection, hepatitis B virus infection, the WBC count and hypoproteinaemia were risk factors for ICU admission. The results of the multivariate analysis of the ICU admission of pregnant women showed that COVID-19 infection (odds ratio [OR] = 4.271, 95 % confidence interval [CI]: 3.572-5.820, P < 0.05) was a risk factor for ICU admission and the WBC count (OR = 0.935, 95 % CI: 0.874-0.947, P < 0.05) was a protective factor for ICU admission. CONCLUSION: Pregnant women are vulnerable to the adverse consequences of COVID-19 infection, and public health measures such as vaccination are needed to protect this population subgroup.


Assuntos
COVID-19 , Complicações Infecciosas na Gravidez , Criança , Feminino , Gravidez , Humanos , COVID-19/epidemiologia , Gestantes , Estudos Retrospectivos , Placenta , Complicações Infecciosas na Gravidez/epidemiologia
15.
J Sports Sci ; 42(8): 655-664, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38794799

RESUMO

Climbing is a physically demanding discipline, placing significant loads on the finger flexors. Notwithstanding the documented greater endurance capacity of experienced climbers, the mechanisms explaining these training-induced adaptations remain unknown. We therefore investigate whether two non-competing strategies - muscle adaptation and alternate muscle recruitment - may explain the disparity in endurance capacity in participants with different climbing experience. We analysed high-density surface electromyograms (EMGs) from 38 Advanced and Intermediate climbers, during suspension exercises over three different depths (15, 20, 30 mm) using a half-crimp grip position. From the spatial distribution of changes in MeDian Frequency and Root Mean Square values until failure, we assessed how much and how diffusely the myoelectric manifestations of fatigue took place. Advanced climbers exhibited greater endurance, as evidenced by significantly longer failure time (p < 0.009) and lower changes in MDF values (p < 0.013) for the three grip depths. These changes were confined to a small skin region (nearly 25% of the grid size), centred at variable locations across participants. Moreover, lower MDF changes were significantly associated with longer suspension times. Collectively, our results suggest that muscle adaptation rather than load sharing between and within muscles is more likely to explain the improved endurance in experienced climbers.


Assuntos
Adaptação Fisiológica , Eletromiografia , Dedos , Força da Mão , Montanhismo , Fadiga Muscular , Músculo Esquelético , Resistência Física , Humanos , Resistência Física/fisiologia , Fadiga Muscular/fisiologia , Montanhismo/fisiologia , Músculo Esquelético/fisiologia , Masculino , Adulto , Força da Mão/fisiologia , Dedos/fisiologia , Adulto Jovem , Feminino
16.
Clin Oral Investig ; 28(9): 490, 2024 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-39153027

RESUMO

OBJECTIVES: To conduct a systematic review and meta-analysis to assess the effectiveness of ozone therapy in oral ulcers healing when compared to placebo or active treatments. MATERIALS AND METHODS: The search was carried out using PubMed, EMBASE, Scopus, and Lilacs databases. Clinical trials involving human participants were included. The Risk Ratio (RR) and the standardized mean difference (SMD) with 95%CI (confidence interval) were calculated. The ROBINS-I (risk of bias in non-randomized studies of interventions) and RoB2 (risk of bias tool for randomized trials) assessment tool was used to detect bias. RESULTS: After the selection process, 12 studies were included. The meta-analysis showed that ozone therapy helps to reduce the size of the traumatic and autoimmune ulcers (RR=-0.44; 95% CI -0.71,-0.17; I2=0%) in comparison to placebo. Regarding pain reduction, ozone was superior to placebo (RR = 1.29, 95% CI -1.6 to -0.95); I2=0%), and equivalent to topical corticosteroid and laser photobiomodulation (RR = 0.26, 95% CI -0.27,0.78, p = 0.34). CONCLUSION: Ozone therapy is an alternative for accelerating healing and reducing pain for both traumatic and autoimmune ulcers. However, the quality of evidence is limited. CLINICAL RELEVANCE: Oral ulcerations are usually painful and impact quality of life requiring different approaches to boost wound healing and reduce symptoms. For this purpose, ozone therapy is a promising strategy.


Assuntos
Ozônio , Cicatrização , Ozônio/uso terapêutico , Humanos , Cicatrização/efeitos dos fármacos , Úlceras Orais/tratamento farmacológico , Úlceras Orais/terapia , Mucosa Bucal/efeitos dos fármacos
17.
Clin Oral Investig ; 28(3): 169, 2024 Feb 24.
Artigo em Inglês | MEDLINE | ID: mdl-38396299

RESUMO

OBJECTIVE: Craniofacial and oral manifestations of Osteogenesis Imperfecta (OI) can affect the functioning of the stomatognathic system and impact the patient's quality of life. The objective of the study was to evaluate the relationship between craniofacial and oral manifestations and the Oral Health-related Quality of Life (OHRQoL) of OI children and adolescents. MATERIAL AND METHODS: A total of 30 OI patients aged eight to fourteen years old followed up at the Oral Care Center for Inherited Diseases were enrolled in the research. OHRQoL was assessed using the short form of the Child Perceptions Questionnaire (CPQ) for eight to ten-year-olds (CPQ8-10) and 11 to 14-year-olds (CPQ11-14). The relationship between the OHRQoL index and its assessment domains, OI types, and the presence of dentinogenesis imperfecta (DI), class III malocclusion, and dental agenesis were evaluated. RESULTS: The median CPQ score of patients was 5, and there was no significant difference in OHRQoL between children and adolescents, nor associated with the disease severity or the presence of DI. The oral manifestations evaluated did not directly impact the patients' OHRQoL. CONCLUSIONS: The study demonstrated that the perception of OHRQoL is similar for both adolescents and children. The oral symptom was the most relevant domain for the index among patients aged eight to fourteen years while the emotional well-being was the most impacted. CLINICAL RELEVANCE: this study makes contributions by indicating that addressing dental care for children and adolescents with OI is important in clinical management and better OHRQoL for this population.


Assuntos
Cárie Dentária , Má Oclusão Classe III de Angle , Osteogênese Imperfeita , Criança , Humanos , Adolescente , Saúde Bucal , Osteogênese Imperfeita/complicações , Qualidade de Vida/psicologia , Estudos Transversais , Inquéritos e Questionários , Cárie Dentária/epidemiologia
18.
BMC Oral Health ; 24(1): 192, 2024 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-38321523

RESUMO

BACKGROUND: Moebius syndrome (MS) is a rare, non-progressive, neuromuscular, congenic disease involving the oral maxillofacial region. The present study aimed to describe the oral and extraoral findings in MS patients and their comprehensive dental management. METHODS: A digital search was carried out in PubMed/MEDLINE, Scopus, Web of Science, and Google Scholar, restricted to articles in English from Jan 01, 2000, to Apr 02, 2023, following PRISMA guidelines. The methodological quality of the studies was evaluated following the JBI guidelines. Qualitative analysis was carried out on the overall result, extraoral and intraoral manifestations, considering dental management as appropriate. RESULTS: Twenty-three studies were included, and a total of 124 cases of patients with MS were analyzed. The 82% of patients with MS were younger than 15 years of age. The most frequent extraoral manifestations were blinking and visual problems (78,22%), malformations of the upper and lower limbs (58,22%), bilateral facial paralysis (12,90%), lack of facial expression (12.09%), and unilateral facial paralysis (6,45%). On the other hand, the most frequent oral manifestations were tongue deformities (78,22%), micrognathia (37,90%), labial incompetence (36,29%), cleft palate (22,87%), gothic palate (16,12%), microstomia (15,32%), anterior open bite (15,32%), dental caries (8,87%), and periodontal disease (8,06%). The majority of MS patients were treated by pediatric dentistry (60,86%), using a surgical approach (56,52%), and orthodontic and orthopedic maxillary (43,47%) followed by restorative (39,13%), and periodontal treatments (21,73%). CONCLUSIONS: This systematic review demonstrates that patients with MS present a wide variety of oral and extraoral manifestations, for which dental treatments are planned and tailored to each patient in accordance with oral manifestations. These treatments encompass problem resolution and oral health maintenance, incorporating recent techniques in managing and treating patients with MS.


Assuntos
Fissura Palatina , Cárie Dentária , Paralisia Facial , Síndrome de Möbius , Criança , Humanos , Assistência Odontológica
19.
Medicina (Kaunas) ; 60(3)2024 Mar 16.
Artigo em Inglês | MEDLINE | ID: mdl-38541215

RESUMO

Neurocysticercosis, a parasitic infection of the central nervous system (CNS), is a significant public health issue globally, including in Brazil. This article presents a case report of a 44-year-old male patient residing in the rural area of Roraima, the northernmost region of Brazil within the Amazon Forest. The patient, with chronic HIV infection, acquired the Taenia solium helminth, resulting in neurocysticercosis development. Remarkably, the diagnosis of neurocysticercosis was not initially apparent but emerged through meticulous analysis following a motorcycle accident. The absence of seizures, a common clinical manifestation, complicated the diagnostic process, making it an uncommon case of NCC, which may be related to co-infection. As the patient's condition progressed, multiple complications arose, requiring additional medical attention and interventions. This case underscores the immense challenges faced by healthcare teams in managing neurocysticercosis effectively. It emphasizes the critical need for a comprehensive, multidisciplinary approach to provide optimal care for such complex cases. The study's findings underscore the importance of raising awareness and implementing improved strategies for tackling neurocysticercosis, particularly in regions where it remains a prevalent concern.


Assuntos
Infecções por HIV , Neurocisticercose , Taenia solium , Masculino , Animais , Humanos , Adulto , Neurocisticercose/complicações , Neurocisticercose/diagnóstico , Neurocisticercose/parasitologia , Brasil , Infecções por HIV/complicações , Sistema Nervoso Central
20.
Zhongguo Dang Dai Er Ke Za Zhi ; 26(1): 81-85, 2024 Jan 15.
Artigo em Chinês | MEDLINE | ID: mdl-38269464

RESUMO

Neonatal lupus erythematosus (NLE) is caused by the transmission of maternal anti-Ro/SSA antibodies, anti-La/SSB antibodies, and other autoantibodies to the fetus through the placenta. Usually, with the disappearance of autoantibodies in the children's body, abnormal changes in the mucocutaneous, blood system, and digestive system can spontaneously subside, but the damage to various systems caused by autoantibodies may persist for a long time. This article provides a comprehensive review of the manifestations and prognosis of NLE in various systems, including mucocutaneous, blood system, circulatory system, nervous system, digestive system, respiratory system, aiming to provide reference for clinical work.


Assuntos
Lúpus Eritematoso Sistêmico , Criança , Recém-Nascido , Feminino , Gravidez , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Prognóstico , Autoanticorpos , Família
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