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1.
Rev. Hosp. Ital. B. Aires (2004) ; 40(2): 53-55, jun. 2020. ilus
Artigo em Espanhol | LILACS (Américas) | ID: biblio-1102484

RESUMO

Una de las características de la afección pulmonar por enfermedad por coronavirus (COVID-19) es la disociación entre la gravedad de la hipoxemia y el mantenimiento de una mecánica respiratoria relativamente conservada. En este contexto se ha establecido una teoría en relación con dos fenotipos de pacientes con síndrome de distrés respiratorio del adulto (SDRA): un fenotipo Low, caracterizado por baja elastancia y baja reclutabilidad, y un fenotipo High, con características de alta elastancia y alta reclutabilidad. Presentamos el caso de un paciente que cursó internación en la Unidad de Terapia Intensiva de Adultos de nuestro hospital, con clínica, mecánica ventilatoria y patrón tomográfico compatible con el fenotipo Low de SDRA por COVID-19. (AU)


Dissociation between severity of hypoxemia and relative preserved respiratory mechanics is a characteristic observed in lung impairment due to coronavirus disease (COVID-19). Patients with COVID-19 that present adult respiratory distress syndrome (ARDS) are identified for one of two phenotypes according to a theory recently established. The Low phenotype is distinguished by low elastance and low recruitability; and the High phenotype, by high elastance and high recruitability. The case describes a patient admitted in the adult Intensive Care Unit of Hospital Italiano de Buenos Aires with observed symptoms, ventilatory mechanics and tomographic pattern that are compatible with Low phenotype of ARDS due to COVID-19. (AU)


Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Síndrome do Desconforto Respiratório do Adulto/microbiologia , Infecções por Coronavirus/terapia , Fenótipo , Síndrome do Desconforto Respiratório do Adulto/genética , Mecânica Respiratória , Infecções por Coronavirus/diagnóstico , Infecções por Coronavirus/fisiopatologia , Tosse/etiologia , Dispneia/etiologia , Febre/etiologia , Hipertensão/complicações , Unidades de Terapia Intensiva , Hipóxia/fisiopatologia , Obesidade/complicações
2.
Braz. j. biol ; 80(1): 142-146, Feb. 2020. tab, graf
Artigo em Inglês | LILACS (Américas) | ID: biblio-1089280

RESUMO

Abstract The objective of this study was to investigate genetic variances and covariances among features of the male Japanese quail advertisement call. Duration of the first, second and third syllable, the length of interval 1 (between the first and the second syllable), interval 2 (between the second and the third syllable) and damping (extension of the third syllable) were measured as temporal properties of the call. Spectral properties were peak frequencies of each syllable and the damping component. In this study, 1730 calls were recorded from 488 male Japanese quail. The restricted maximum likelihood procedure for repeated measurements was applied to estimate (co)variance components and genetic parameters for the examined traits. Heritability estimates of call parameters of the male Japanese quail ranged from low to high values (0.04-0.65) and they were generally higher for temporal properties than for spectral properties. Among the temporal properties of the call, the highest genetic correlation was between the first and the second syllable (0.96±0.251) while the lowest genetic correlation was between the first and the third syllable (0.03±0.231). Significant genetic correlations were generally high and positive among peak frequencies of the syllables. Despite the lack of apparent pattern, interval lengths tended to have positive correlation with spectral properties of the call, but the correlation of syllable lengths with spectral properties of the call was negative.


Resumo O objetivo deste estudo foi investigar as variâncias e covariâncias genéticas entre as características do canto de anúncio de codornas japonesas. A duração da primeira, segunda e terceira sílaba, o comprimento do intervalo 1 (entre a primeira e a segunda sílaba), o intervalo 2 (entre a segunda e a terceira sílaba) e o amortecimento (extensão da terceira sílaba) foram medidos como propriedades temporais da chamada. As propriedades espectrais foram as frequências de pico de cada sílaba e o componente de amortecimento. Neste estudo, 1730 chamadas foram registradas de 488 codornas japonesas masculinas. O procedimento de máxima verossimilhança restrita para medidas repetidas foi aplicado para estimar componentes de (co) variância e parâmetros genéticos para as características examinadas. As estimativas de herdabilidade dos parâmetros de chamada das codornas japonesas masculinas variaram entre valores baixos e altos (0,04-0,65) e foram geralmente mais elevadas para as propriedades temporais do que para as propriedades espectrais. Dentre as propriedades temporais da chamada, a maior correlação genética foi entre a primeira e a segunda sílaba (0,96 ± 0,251), enquanto a menor correlação genética foi entre a primeira e a terceira sílaba (0,03 ± 0,231). Correlações genéticas significativas foram geralmente altas e positivas entre as frequências de pico das sílabas. Apesar da falta de padrão aparente, os comprimentos de intervalo tenderam a ter uma correlação positiva com as propriedades espectrais da chamada, mas a correlação dos comprimentos das sílabas com as propriedades espectrais da chamada foi negativa.


Assuntos
Animais , Masculino , Publicidade , Coturnix , Fenótipo
3.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-762473

RESUMO

BACKGROUND: Although the incidence of tuberculosis (TB) is decreasing, cases of multidrug-resistant (MDR) TB and extensively drug-resistant (XDR) TB continue to increase. As conventional phenotype drug susceptibility testing (pDST) takes six to eight weeks, molecular assays are widely used to determine drug resistance. we developed QuantaMatrix Multiplexed Assay Platform (QMAP) MDR/XDR assay (QuantaMatrix Inc., Seoul, Korea) that can simultaneously detect mutations related to both first- and second-line drug resistance (rifampin, isoniazid, ethambutol, fluoroquinolones, second-line injectable drugs, and streptomycin). METHODS: We used 190 clinical Mycobacterium tuberculosis (MTB) strains isolated from Myanmar, compared QMAP and pDST results, and determined concordance rates. Additionally, we performed sequence analyses for discordant results. RESULTS: QMAP results were 87.9% (167/190) concordant with pDST results. In the 23 isolates with discordant results, the QMAP and DNA sequencing results completely matched. CONCLUSIONS: The QMAP MDR/XDR assay can detect all known DNA mutations associated with drug resistance for both MDR- and XDR-MTB strains. It can be used for molecular diagnosis of MDR- and XDR-TB to rapidly initiate appropriate anti-TB drug therapy.


Assuntos
Diagnóstico , DNA , Resistência a Medicamentos , Tratamento Farmacológico , Etambutol , Tuberculose Extensivamente Resistente a Medicamentos , Fluoroquinolonas , Incidência , Isoniazida , Mianmar , Mycobacterium tuberculosis , Fenótipo , Seul , Análise de Sequência , Análise de Sequência de DNA , Tuberculose , Tuberculose Resistente a Múltiplos Medicamentos
5.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-762182

RESUMO

PURPOSE: Data are lacking on the association between the allergic rhinitis (AR) phenotype and sensitization to specific allergens or bronchial hyperresponsiveness (BHR) in children. We here investigated risk factors and comorbidities, including sensitization to specific allergens and BHR, for the AR phenotype by AR and its Impact on Asthma (ARIA) classification in a general population-based birth cohort study. METHODS: We enrolled 606 children aged 7 years from the Panel Study of Korean Children. The AR phenotype was assigned in accordance with the ARIA classification in children. Skin prick tests and Provocholine provocation test were performed. Risk factors and comorbidities for AR phenotypes were then analyzed. RESULTS: The prevalence of mild and moderate to severe AR in our study cohort was 37.2% and 8.8%, respectively. Recent use of analgesics or antipyretics and current cat ownership were associated with the risk of mild persistent AR. Sensitizations to Dermatophagoides Pteronyssinus (Der p), Japanese hop and cat were associated with moderate to severe persistent AR. Children with moderate to severe AR had a higher risk of current asthma and BHR compared to mild AR cases (adjusted odds ratio [aOR], 5.26; 95% confidence interval [CI], 1.77–15.62). Moderate to severe AR with allergic sensitization was associated with the highest risk of BHR (aOR, 11.77; 95% CI, 3.40–40.74). CONCLUSIONS: Moderate to severe-persistent AR is more closely related to respiratory comorbidities and sensitizations than mild AR. Stratifying the AR phenotype by ARIA classification may assist in disease management.


Assuntos
Alérgenos , Analgésicos , Animais , Antipiréticos , Grupo com Ancestrais do Continente Asiático , Asma , Hiper-Reatividade Brônquica , Gatos , Criança , Classificação , Estudos de Coortes , Comorbidade , Dermatophagoides pteronyssinus , Gerenciamento Clínico , Humanos , Cloreto de Metacolina , Razão de Chances , Propriedade , Parto , Fenótipo , Prevalência , Rinite Alérgica , Fatores de Risco , Pele
6.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-762177

RESUMO

PURPOSE: Alterations in the intestinal microbiota in early life affects the development of atopic dermatitis (AD) in humans. This study aimed to further investigate the effects of gut dysbiosis in early life in an ovalbumin (OVA)-induced mouse model of AD. METHODS: The AD mouse model was developed by serial OVA sensitization and mice were treated with an antibiotic cocktail in their drinking water for 2 weeks before primary sensitization. Probiotics (Lactobacillus rhamnosus, 1 × 10⁹ CFU) or 100 µL of fresh fecal supernatant were orally administered daily from 1 week before the first sensitization until the end of the study. RESULTS: The AD mice which received antibiotics had significantly aggravated phenotypes, including clinical score, transepidermal water loss, and histopathology, compared to those treated with healthy feces or probiotics. Total systemic immunoglobulin E production and skin interleukin (IL) 4 levels were significantly increased in the antibiotic-treated mice compared to the other groups. Antibiotic treatment also increased the levels of IL17 and group 3 innate lymphoid cells (ILC3) in the gut and significantly suppressed the production of short-chain fatty acids (SCFAs) and decreased the number FOXP3⁺ cells. CONCLUSIONS: Our results suggest that the status of the gut microbiota in early life in the mouse may play a crucial role in AD development through intestinal SCFA production through regulate the numbers of CD4⁺IL17⁺/CD4⁺FOXP3⁺ regulatory T cells and ILC3s.


Assuntos
Animais , Antibacterianos , Citocinas , Dermatite Atópica , Água Potável , Disbiose , Ácidos Graxos , Ácidos Graxos Voláteis , Fezes , Microbioma Gastrointestinal , Humanos , Imunoglobulina E , Imunoglobulinas , Interleucinas , Intestinos , Linfócitos , Camundongos , Microbiota , Ovalbumina , Óvulo , Fenótipo , Probióticos , Pele , Linfócitos T Reguladores , Água
7.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-786080

RESUMO

Cell-proliferation potency is limited, as cells cannot proceed through the cell cycle continually. Instead, they eventually show an irreversible arrest of proliferation, commonly referred to as cellular senescence. Following the initial discovery of this phenomenon by Hayflick et al., studies have indicated that cells are also destined to undergo aging. In addition to the irreversible termination of proliferation, senescent cells are characterized by a flattened and enlarged morphology. Senescent cells become pro-inflammatory and contribute to the initiation and maintenance of sustained chronic sterile inflammation. Aging is associated with the accumulation of senescent cells in the cardiovascular system, and in general these cells are considered to be pathogenic because they mediate vascular remodeling. Recently, genetic and pharmacological approaches have enabled researchers to eliminate senescent cells both in vitro and in vivo. The term “senolysis” is now used to refer to the depletion of senescent cells, and evidence indicates that senolysis contributes to the reversal of age-related pathogenic phenotypes without the risk of tumorigenesis. The concept of senolysis has opened new avenues in research on aging, and senolysis may be a promising therapeutic approach for combating age-related disorders, including arterial diseases.


Assuntos
Envelhecimento , Carcinogênese , Sistema Cardiovascular , Senescência Celular , Ciclo Celular , Técnicas In Vitro , Inflamação , Fenótipo , Remodelação Vascular
8.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-786077

RESUMO

Vascular smooth muscle cells (VSMCs) play a pivotal role in the stability and tonic regulation of vascular homeostasis. VSMCs can switch back and forth between highly proliferative (synthetic) and fully differentiated (contractile) phenotypes in response to changes in the vessel environment. Abnormal phenotypic switching of VSMCs is a distinctive characteristic of vascular disorders, including atherosclerosis, pulmonary hypertension, stroke, and peripheral artery disease; however, how the control of VSMC phenotypic switching is dysregulated under pathological conditions remains obscure. Canonical transient receptor potential (TRPC) channels have attracted attention as a key regulator of pathological phenotype switching in VSMCs. Several TRPC subfamily member proteins—especially TRPC1 and TRPC6—are upregulated in pathological VSMCs, and pharmacological inhibition of TRPC channel activity has been reported to improve hypertensive vascular remodeling in rodents. This review summarizes the current understanding of the role of TRPC channels in cardiovascular plasticity, including our recent finding that TRPC6 participates in aberrant VSMC phenotype switching under ischemic conditions, and discusses the therapeutic potential of TRPC channels.


Assuntos
Aterosclerose , Plasticidade Celular , Homeostase , Hipertensão Pulmonar , Músculo Liso Vascular , Doença Arterial Periférica , Fenótipo , Plásticos , Roedores , Acidente Vascular Cerebral , Canais de Receptores Transientes de Potencial , Remodelação Vascular
9.
Asia Pacific Allergy ; (4): 4-2020.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-785461

RESUMO

BACKGROUND: Banana fruit has been recognized as an important food allergen source. Nowadays banana hypersensitivity had been reported more frequently with various presentations from oral allergy syndrome to anaphylaxis.OBJECTIVE: This study aims to describe the pattern of banana hypersensitivity and the sensitivity of diagnostic test.METHODS: Six patients who experienced banana hypersensitivity were recruited from adult allergy clinic, Ramathibodi Hospital, Mahidol University between 2015–2018. Demographic data, pattern of banana allergy consisted of the onset of reaction, symptoms, severity, cross-reactivity to kiwi, avocado, latex including type and amount of banana were collected. Skin test, serum specific IgE to banana and open-label food challenge test had been applied.RESULTS: All patients experienced multiple episodes of banana anaphylaxis. Regarding the diagnostic investigation, prick-to-prick skin test had higher sensitivity (sensitivity, 100%; 95% confidence interval [CI], 54.07%–100%) than the commercial banana extract (sensitivity, 83.33%; 95% CI, 35.88%–99.58%) and serum specific IgE to banana (sensitivity, 50%; 95% CI, 11.81%–88.19%). The discordance between skin prick test using commercial banana extract and skin test was reported. The cross-reactivity between the species of banana, kiwi, the avocado was documented in all patients. Latex skin prick test and application test were applied with negative results. From the oral food challenge test, a case of banana anaphylaxis patient can tolerate heated banana.CONCLUSION: The various phenotypes of banana hypersensitivity were identified. The prick-to-prick test showed the highest sensitivity for diagnosis of banana allergy. However, component resolved diagnostics might be needed for conclusive diagnosis.


Assuntos
Adulto , Anafilaxia , Diagnóstico , Testes Diagnósticos de Rotina , Hipersensibilidade Alimentar , Frutas , Temperatura Alta , Humanos , Hipersensibilidade , Hipersensibilidade Imediata , Imunoglobulina E , Látex , Musa , Persea , Fenótipo , Pele , Testes Cutâneos , Tailândia
10.
Asia Pacific Allergy ; (4): 8-2020.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-785457

RESUMO

There are geographical, regional, and ethnic differences in the phenotypes and endotypes of patients with drug hypersensitivity reactions (DHRs) in different parts of the world. In Asia, aspects of drug hypersensitivity of regional importance include IgE-mediated allergies and T-cell-mediated reactions, including severe cutaneous adverse reactions (SCARs), to beta-lactam antibiotics, antituberculous drugs, nonsteroidal anti-inflammatory drugs (NSAIDs) and radiocontrast agents. Delabeling of low-risk penicillin allergy using direct oral provocation tests without skin tests have been found to be useful where the drug plausibility of the index reaction is low. Genetic risk associations of relevance to Asia include human leucocyte antigen (HLA)-B*1502 with carbamazepine SCAR, and HLA-B*5801 with allopurinol SCAR in some Asian ethnic groups. There remains a lack of safe and accurate diagnostic tests for antituberculous drug allergy, other than relatively high-risk desensitization regimes to first-line antituberculous therapy. NSAID hypersensitivity is common among both adults and children in Asia, with regional differences in phenotype especially among adults. Low dose aspirin desensitization is an important therapeutic modality in individuals with cross-reactive NSAID hypersensitivity and coronary artery disease following percutaneous coronary intervention. Skin testing allows patients with radiocontrast media hypersensitivity to confirm the suspected agent and test for alternatives, especially when contrasted scans are needed for future monitoring of disease relapse or progression, especially cancers.


Assuntos
Adulto , Alopurinol , Anafilaxia , Antibacterianos , Ásia , Grupo com Ancestrais do Continente Asiático , Aspirina , Asma , Carbamazepina , Criança , Cicatriz , Meios de Contraste , Doença da Artéria Coronariana , Testes Diagnósticos de Rotina , Hipersensibilidade a Drogas , Grupos Étnicos , Humanos , Hipersensibilidade , Penicilinas , Intervenção Coronária Percutânea , Fenótipo , Recidiva , Testes Cutâneos
11.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-785401

RESUMO

BACKGROUND: Waldenström macroglobulinemia (WM) is a subset of lymphoplasmacytic lymphoma (LPL) with bone marrow (BM) involvement and an IgM monoclonal gammopathy of any level. We aimed to identify the clinical, laboratory, and BM findings of patients with WM and to evaluate the usefulness of CD154 for the diagnosis and prognosis of WM.METHODS: We reviewed the medical records and BM studies and/or flow cytometric immunotyping of 31 patients with untreated WM. Semiquantitative immunohistochemistry (CD20, CD138, tryptase, and CD154) of BM was performed.RESULTS: Only six patients presented with symptoms of hyperviscosity syndrome. Eleven patients had solid cancer and/or another hematologic malignancy. Mast cells (MC) increased in all samples, with some in close contact with tumor cells. Tryptase-positive MC (17.1/ high-power fields [HPF], 1.2–72.0/HPF) and CD154-positive MC (8.6/HPF, 0.1–31.1/HPF) were observed. The high CD154-positive MC (≥8.6/HPF) group showed a lower overall five-year survival rate than the low CD154-positive MC (<8.6/HPF) group (71.9% vs. 100.0%; P=0.012). Flow cytometric immunophenotyping of BM aspirates showed increased B lymphocytes and plasma cells with a normal phenotype (CD138⁺/CD38⁺/CD19⁺/CD45⁺/CD56⁻).CONCLUSIONS: Approximately one third of WM patients showed other malignancies and all patients had increased MC. Immunohistochemistry and flow cytometric immunophenotyping are useful for diagnosing WM, and increased CD154-positive MC can indicate poor prognosis.


Assuntos
Linfócitos B , Medula Óssea , Diagnóstico , Neoplasias Hematológicas , Humanos , Imunoglobulina M , Imuno-Histoquímica , Imunofenotipagem , Linfoma , Mastócitos , Registros Médicos , Paraproteinemias , Fenótipo , Plasmócitos , Prognóstico , Taxa de Sobrevida , Triptases , Macroglobulinemia de Waldenstrom
12.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-785397

RESUMO

BACKGROUND: Pathogenic variants of USH1C, encoding a PDZ-domain-containing protein called harmonin, have been known to cause autosomal recessive syndromic or nonsyndromic hearing loss (NSHL). We identified a causative gene in a large Korean family with NSHL showing a typical pattern of autosomal dominant (AD) inheritance.METHODS: Exome sequencing was performed for five affected and three unaffected individuals in this family. Following identification of a candidate gene variant, segregation analysis and functional studies, including circular dichroism and biolayer interferometry experiments, were performed.RESULTS: A novel USH1C heterozygous missense variant (c.667G>T;p.Gly223Cys) was shown to segregate with the NSHL phenotype in this family. This variant affects an amino acid residue located in the highly conserved carboxylate-binding loop of the harmonin PDZ2 domain and is predicted to disturb the interaction with cadherin-related 23 (cdh23). The affinity of the variant PDZ2 domain for a biotinylated synthetic peptide containing the PDZ-binding motif of cdh23 was approximately 16-fold lower than that of the wild-type PDZ2 domain and that this inaccessibility of the binding site was caused by a conformational change in the variant PDZ2 domain.CONCLUSIONS: A heterozygous variant of USH1C that interferes with the interaction between cdh23 and harmonin causes novel AD-NSHL.


Assuntos
Sítios de Ligação , Dicroísmo Circular , Exoma , Perda Auditiva , Audição , Humanos , Interferometria , Fenótipo , Testamentos
13.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-785353

RESUMO

Atopic dermatitis (AD) is the most common chronic inflammatory skin disease, characterized by a complex pathophysiology and a variety of clinical phenotypes. However, heterogeneous clinical phenotypes are generally not considered in treating AD. To date, phenotypes and endotypes have been proposed to classify AD mainly based on differences in age, IgE, severity, race, skin barrier dysfunction, immune (Th2/Th17/Th22) polarization, and skin microbiome. Various biologics to target polarized immune pathways, including dupilumab, have been newly developed for the personalized treatment of moderate-to-severe AD. Further understanding of AD pathophysiology and identification of novel biomarkers will not only allow clinically useful stratification of AD and but also achieve precision medicine for the prevention and treatment of AD.


Assuntos
Produtos Biológicos , Biomarcadores , Grupos de Populações Continentais , Dermatite Atópica , Humanos , Imunoglobulina E , Microbiota , Fenótipo , Medicina de Precisão , Pele , Dermatopatias
14.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-785344

RESUMO

The current document is based on a consensus reached by a panel of experts from the Chinese Society of Allergy and the Chinese Society of Otorhinolaryngology-Head and Neck Surgery, Rhinology Group. Chronic rhinosinusitis (CRS) affects approximately 8% of Chinese adults. The inflammatory and remodeling mechanisms of CRS in the Chinese population differ from those observed in the populations of European descent. Recently, precision medicine has been used to treat inflammation by targeting key biomarkers that are involved in the process. However, there are no CRS guidelines or a consensus available from China that can be shared with the international academia. The guidelines presented in this paper cover the epidemiology, economic burden, genetics and epigenetics, mechanisms, phenotypes and endotypes, diagnosis and differential diagnosis, management, and the current status of CRS in China. These guidelines—with a focus on China—will improve the abilities of clinical and medical staff during the treatment of CRS. Additionally, they will help international agencies in improving the verification of CRS endotypes, mapping of eosinophilic shifts, the identification of suitable biomarkers for endotyping, and predicting responses to therapies. In conclusion, these guidelines will help select therapies, such as pharmacotherapy, surgical approaches and innovative biotherapeutics, which are tailored to each of the individual CRS endotypes.


Assuntos
Adulto , Grupo com Ancestrais do Continente Asiático , Biomarcadores , China , Consenso , Diagnóstico , Diagnóstico Diferencial , Tratamento Farmacológico , Eosinófilos , Epidemiologia , Epigenômica , Genética , Humanos , Hipersensibilidade , Inflamação , Agências Internacionais , Corpo Clínico , Pescoço , Fenótipo , Medicina de Precisão
15.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-785340

RESUMO

PURPOSE: While there is an urgent need for diagnosis and therapeutic intervention in patients with primary immunodeficiency diseases (PIDs), current genetic tests have drawbacks. We retrospectively reviewed the usefulness of flow cytometry (FCM) as a quick tool for immunophenotyping and functional assays in patients suspected to have PIDs at a single tertiary care institute.METHODS: Between January 2001 and June 2018, patients suspected of having PIDs were subjected to FCM tests, including lymphocyte subset analysis, detection of surface- or intracellular-target proteins, and functional analysis of immune cells, at Samsung Medical Center, Seoul, Korea. The genetic diagnosis was performed using Sanger or diagnostic exome sequencing.RESULTS: Of 60 patients diagnosed with definite or probable PID according to the European Society of Immune Deficiencies criteria, 24 patients were provided with useful information about immunological dysfunction after initial FCM testing. In 10 patients, the PID diagnosis was based on abnormal findings in FCM testing without genetic tests. The FCM findings provided strong evidence for the diagnosis of severe combined immunodeficiency (n = 6), X-linked chronic granulomatous diseases (CGD) (n = 6), leukocyte adhesion deficiency type 1 (n = 3), X-linked agammaglobulinemia (n = 11), autoimmune lymphoproliferative syndrome-FASLG (n = 1), and familial hemophagocytic lymphohistiocytosis type 2 (n = 1), and probable evidence for autosomal recessive-CGD (n = 2), autosomal dominant-hyper-immunoglobulin E (IgE)-syndrome (n = 1), and STAT1 gain-of-function mutation (n = 1). In PIDs derived from PIK3CD (n = 2), LRBA (n = 2), and CTLA4 mutations (n = 3), the FCM test provided useful evidence of immune abnormalities and a tool for treatment monitoring.CONCLUSIONS: The initial application of FCM, particularly with known protein targets on immune cells, would facilitate the timely diagnosis of PIDs and thus would support clinical decisions and improve the clinical outcome.


Assuntos
Agamaglobulinemia , Diagnóstico , Exoma , Citometria de Fluxo , Testes Genéticos , Doença Granulomatosa Crônica , Humanos , Imunofenotipagem , Coreia (Geográfico) , Leucócitos , Subpopulações de Linfócitos , Linfo-Histiocitose Hemofagocítica , Fenótipo , Estudos Retrospectivos , Seul , Imunodeficiência Combinada Severa , Atenção Terciária à Saúde
16.
Immune Network ; : 7-2020.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-811175

RESUMO

Cancer immunotherapy, in the form of vaccination, adoptive cellular transfer, or immune checkpoint inhibitors, has emerged as a promising practice within the field of oncology. However, despite the developing field's potential to revolutionize cancer treatment, the presence of immunotherapeutic-resistant tumor cells in many patients present a challenge and limitation to these immunotherapies. These cells not only indicate immunotherapeutic resistance, but also show multi-modal resistance to conventional therapies, abnormal metabolism, stemness, and metastasis. How can immunotherapeutic-resistant tumor cells render multi-malignant phenotypes? We reasoned that the immune-refractory phenotype could be associated with multi-malignant phenotypes and that these phenotypes are linked together by a factor that acts as the master regulator. In this review, we discussed the role of the embryonic transcription factor NANOG as a crucial master regulator we named “common factor” in multi-malignant phenotypes and presented strategies to overcome multi-malignancy in immunotherapeutic-resistant cancer by restraining the NANOG-mediated multi-malignant signaling axis. Strategies that blunt the NANOG axis could improve the clinical management of therapy-refractory cancer.


Assuntos
Humanos , Imunoterapia , Metabolismo , Metástase Neoplásica , Fenótipo , Fatores de Transcrição , Vacinação
17.
Annals of Dermatology ; : 101-108, 2020.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-811089

RESUMO

BACKGROUND: Melasma is a chronic acquired focal hypermelanosis which pathogenesis has not been fully elucidated. Classical pathophysiologic studies have analysed the affected and perilesional areas, but little is known about the status of sun-protected skin, which is subjected to the same endogenous and genetic factors.OBJECTIVE: To assess the histological characteristics of melasma compared to adjacent and retroauricular skin.METHODS: Skin samples were collected from 10 female from: melasma, perilesional area and retroauricular. The samples were stained (haematoxylin-eosin, periodic acid-Schiff, Fontana-Masson, picrosirius red, toluidine blue and Verhoeff), immunolabelled for CD34 and Wnt1. The data from the skin sites were analysed simultaneously by a multivariate model.RESULTS: Melasma skin exhibited noteworthy stratum corneum compaction, greater collagen heterogeneity, solar elastosis, higher number of mast cells, basement membrane zone (BMZ) damage, Wnt1 expression, pendulum melanocytes, higher cellularity and vascular proliferation at the superficial dermis. Stratum corneum compaction, collagen heterogeneity and BMZ abnormalities were variables associated to melasma that not follow a continuum through retroauricular to adjacent skin. Mast cell count was the variable that disclosed correlation with the most other abnormalities as well as had the greater contribution in the multivariate model.CONCLUSION: In addition to melanocyte hyperactivity, melasma skin exhibits alterations in the epidermal barrier, upper dermis and BMZ, which differ from the adjacent sun-exposed skin and retroauricular skin, indicating a distinct phenotype, rather than a mere extension of photoageing or intrinsic ageing. Mast cells appear to play a central role in the physiopathology of melasma.


Assuntos
Membrana Basal , Colágeno , Derme , Epiderme , Feminino , Humanos , Hiperpigmentação , Mastócitos , Melanócitos , Melanose , Fenótipo , Características da População , Pele , Cloreto de Tolônio , Via de Sinalização Wnt
18.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-811071

RESUMO

Since the airways are constantly exposed to various pathogens and foreign antigens, various kinds of cells in the airways—including structural cells and immune cells—interact to form a precise defense system against pathogens and antigens that involve both innate immunity and acquired immunity. Accumulating evidence suggests that innate lymphoid cells (ILCs) play critical roles in the maintenance of tissue homeostasis, defense against pathogens and the pathogenesis of inflammatory diseases, especially at body surface mucosal sites such as the airways. ILCs are activated mainly by cytokines, lipid mediators and neuropeptides that are produced by surrounding cells, and they produce large amounts of cytokines that result in inflammation. In addition, ILCs can change their phenotype in response to stimuli from surrounding cells, which enables them to respond promptly to microenvironmental changes. ILCs exhibit substantial heterogeneity, with different phenotypes and functions depending on the organ and type of inflammation, presumably because of differences in microenvironments. Thus, ILCs may be a sensitive detector of microenvironmental changes, and analysis of their phenotype and function at local sites may enable us to better understand the microenvironment in airway diseases. In this review, we aimed to identify molecules that either positively or negatively influence the function and/or plasticity of ILCs and the sources of the molecules in the airways in order to examine the pathophysiology of airway inflammatory diseases and facilitate the issues to be solved.


Assuntos
Imunidade Adaptativa , Microambiente Celular , Citocinas , Homeostase , Imunidade Inata , Inflamação , Linfócitos , Neuropeptídeos , Fenótipo , Plásticos , Características da População , Doenças Respiratórias
19.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-811069

RESUMO

PURPOSE: Different characteristics of airway microbiome in asthmatics may lead to differential immune responses, which in turn cause eosinophilic or neutrophilic airway inflammation. However, the relationships among these factors have yet to be fully elucidated.METHODS: Microbes in induced sputum samples were subjected to sequence analysis of 16S rRNA. Airway inflammatory phenotypes were defined as neutrophils (>60%) and eosinophils (>3%), and inflammation endotypes were defined by levels of T helper (Th) 1 (interferon-γ), Th2 (interleukin [IL]-5 and IL-13), Th-17 (IL-17), and innate Th2 (IL-25, IL-33, and thymic stromal lymphopoietin) cytokines, inflammasomes (IL-1β), epithelial activation markers (granulocyte-macrophage colony-stimulating factor and IL-8), and Inflammation (IL-6 and tumor necrosis factor-α) cytokines in sputum supernatants was assessed by enzyme-linked immunosorbent assay.RESULTS: The numbers of operational taxonomic units were significantly higher in the mixed (n = 21) and neutrophilic (n = 23) inflammation groups than in the paucigranulocytic inflammation group (n = 19; p < 0.05). At the species level, Granulicatella adiacens, Streptococcus parasanguinis, Streptococcus pneumoniae, Veillonella rogosae, Haemophilus parainfluenzae, and Neisseria perflava levels were significantly higher in the eosinophilic inflammation group (n = 20), whereas JYGU_s levels were significantly higher in the neutrophilic inflammation group compared to the other subtypes (P < 0.05). Additionally, IL-5 and IL-13 concentrations were correlated with the percentage of eosinophils (P < 0.05) and IL-13 levels were positively correlated with the read counts of Porphyromonas pasteri and V. rogosae (P < 0.05). IL-1β concentrations were correlated with the percentage of neutrophils (P < 0.05). had a tendency to be positively correlated with the read count of JYGU_s (P = 0.095), and was negatively correlated with that of S. pneumoniae (P < 0.05).CONCLUSIONS: Difference of microbial patterns in airways may induce distinctive endotypes of asthma, which is responsible for the neutrophilic or eosinophilic inflammation in asthma.


Assuntos
Asma , Fatores Estimuladores de Colônias , Citocinas , Ensaio de Imunoadsorção Enzimática , Eosinófilos , Haemophilus parainfluenzae , Inflamassomos , Inflamação , Interleucina-13 , Interleucina-33 , Interleucina-5 , Microbiota , Necrose , Neisseria , Neutrófilos , Fenótipo , Pneumonia , Porphyromonas , Análise de Sequência , Escarro , Streptococcus , Streptococcus pneumoniae , Veillonella
20.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-782523

RESUMO

The emergence of livestock-associated (LA)-methicillin-resistant Staphylococcus aureus (MRSA) in livestock animal has become a significant zoonotic concern. In the present study, we investigated nationwide prevalence of LA-MRSA across pork production chain including pig farms, slaughterhouses, and retail markets. A total of 40 MRSA strains were isolated during the investigation and the overall prevalence of MRSA was 3.4% (n = 37), 0.6% (n = 2), and 0.4% (n = 1) in pig farms, slaughterhouses, and retail markets, respectively. Multilocus sequence typing analyses revealed that the 2 most significant clonal lineages in pork production chain in Korea were ST398 (n = 25) and ST541 (n = 6). All of the 40 MRSA isolates were further characterized to investigate key genotypic and phenotypic correlates associated with the emergence and spread of clonal complex 398 (CC398; ST398, and ST541) LA-MRSA. Although the prevalence of swine-associated MRSA was still relatively low and mostly restricted to pig farms, multidrug-resistant CC398 LA-MRSA isolates with new spa types (t18102 and t18103) were identified as a major clonal lineage. The CC398 LA-MRSA strains tended to exhibit increased levels of multiple drug resistance (MDR) phenotype compared with non-CC398 MRSA strains. Of note, in comparison with non-CC398 MRSA isolates, CC398 LA-MRSA isolates exhibited significantly enhanced tetracycline (TET) and zinc resistance. These findings suggested that co-selection pressure associated with MDR phenotype, especially TET resistance, and zinc resistance may have played a significant role in the emergence and persistence of CC398 LA-MRSA in pig farms in Korea.


Assuntos
Matadouros , Agricultura , Animais , Resistência a Múltiplos Medicamentos , Fazendeiros , Coreia (Geográfico) , Gado , Resistência a Meticilina , Staphylococcus aureus Resistente à Meticilina , Tipagem de Sequências Multilocus , Fenótipo , Prevalência , Carne Vermelha , Staphylococcus aureus , Suínos , Tetraciclina , Zinco
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