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1.
Transl Psychiatry ; 12(1): 15, 2022 01 10.
Artigo em Inglês | MEDLINE | ID: mdl-35013117

RESUMO

Up until now, no study has looked specifically at epigenomic landscapes throughout twin samples, discordant for Anorexia nervosa (AN). Our goal was to find evidence to confirm the hypothesis that epigenetic variations play a key role in the aetiology of AN. In this study, we quantified genome-wide patterns of DNA methylation using the Infinium Human DNA Methylation EPIC BeadChip array ("850 K") in DNA samples isolated from whole blood collected from a group of 7 monozygotic twin pairs discordant for AN. Results were then validated performing a genome-wide DNA methylation profiling using DNA extracted from whole blood of a group of non-family-related AN patients and a group of healthy controls. Our first analysis using the twin sample revealed 9 CpGs associated to a gene. The validation analysis showed two statistically significant CpGs with the rank regression method related to two genes associated to metabolic traits, PPP2R2C and CHST1. When doing beta regression, 6 of them showed statistically significant differences, including 3 CpGs associated to genes JAM3, UBAP2L and SYNJ2. Finally, the overall pattern of results shows genetic links to phenotypes which the literature has constantly related to AN, including metabolic and psychological traits. The genes PPP2R2C and CHST1 have both been linked to the metabolic traits type 2 diabetes through GWAS studies. The genes UBAP2L and SYNJ2 have been related to other psychiatric comorbidity.


Assuntos
Anorexia Nervosa , Diabetes Mellitus Tipo 2 , Anorexia Nervosa/genética , Proteínas de Transporte , Metilação de DNA , Epigênese Genética , Humanos , Gêmeos Monozigóticos/genética
2.
Allergol. immunopatol ; 45(2): 169-174, mar.-abr. 2017. tab, graf
Artigo em Inglês | IBECS | ID: ibc-160522

RESUMO

OBJECTIVE: To measure lung function by impulse oscillometry (IOS) and spirometry in recurrent wheezer pre-schoolers according to their asthma predictive index (API) condition. METHODS: We performed a case-control study enrolling all pre-schoolers with recurrent wheezing episodes (>3 episodes confirmed by physician) who presented at a paediatric pulmonology clinic. The population was divided according to stringent API criteria into positive or negative. RESULTS: In the nine-month period, 109 pre-schoolers were enrolled. After excluding one patient (due to lung function technique problems) 108 pre-schoolers (56 males, age range from 24 to 72 months) completed the study; 50 belong to positive API and 58 to negative API group. There were no differences in demographics between groups. More use of ICS was found in those with positive API than with negative API (62% vs. 12%, respectively, p = 0.001). No differences in basal lung function and post-bronchodilator response to salbutamol (by IOS or spirometry) were found between positive and negative API pre-schoolers. However, those positive API pre-schoolers with ICS had significantly higher central basal airway resistance (RA at 20Hz) and higher post-BD response (% change in FEF25-75 and in FEV0.5) than those positive API without ICS. CONCLUSION: Recurrent wheezer pre-schoolers with positive API and ICS used may have airway dysfunction. More studies are needed to confirm this finding


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Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Asma/diagnóstico , Asma/epidemiologia , Espirometria/instrumentação , Espirometria/métodos , Sons Respiratórios/imunologia , Espirometria , Sons Respiratórios/diagnóstico , Sons Respiratórios/etiologia , Albuterol/uso terapêutico , Estudos Prospectivos , Combinação Fluticasona-Salmeterol , Inquéritos e Questionários , Estudos de Casos e Controles
3.
Allergol Immunopathol (Madr) ; 45(2): 169-174, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27717725

RESUMO

OBJECTIVE: To measure lung function by impulse oscillometry (IOS) and spirometry in recurrent wheezer pre-schoolers according to their asthma predictive index (API) condition. METHODS: We performed a case-control study enrolling all pre-schoolers with recurrent wheezing episodes (>3 episodes confirmed by physician) who presented at a paediatric pulmonology clinic. The population was divided according to stringent API criteria into positive or negative. RESULTS: In the nine-month period, 109 pre-schoolers were enrolled. After excluding one patient (due to lung function technique problems) 108 pre-schoolers (56 males, age range from 24 to 72 months) completed the study; 50 belong to positive API and 58 to negative API group. There were no differences in demographics between groups. More use of ICS was found in those with positive API than with negative API (62% vs. 12%, respectively, p=0.001). No differences in basal lung function and post-bronchodilator response to salbutamol (by IOS or spirometry) were found between positive and negative API pre-schoolers. However, those positive API pre-schoolers with ICS had significantly higher central basal airway resistance (RA at 20Hz) and higher post-BD response (% change in FEF25-75 and in FEV0.5) than those positive API without ICS. CONCLUSION: Recurrent wheezer pre-schoolers with positive API and ICS used may have airway dysfunction. More studies are needed to confirm this finding.


Assuntos
Asma/diagnóstico , Sons Respiratórios/diagnóstico , Sistema Respiratório/metabolismo , Estudos de Casos e Controles , Pré-Escolar , Feminino , Humanos , Masculino , Valor Preditivo dos Testes , Prognóstico , Recidiva , Testes de Função Respiratória/métodos
4.
Eat Behav ; 16: 47-53, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25464067

RESUMO

BACKGROUND: How executive functioning affects delayed verbal recall in AN has never been tested. We investigated the influence of speed of information processing (SIP) and inhibition on delayed verbal recall in females with AN. METHODS: Measures of SIP and inhibition from 35 females with AN were analyzed using hierarchical multiple regression after controlling for age, depressive symptomatology and body mass index. Each predictor was evaluated using structure coefficients, common variance and dominance weights. RESULTS: The combination of measures of SIP and inhibition accounted for almost 80% of the variance on the delayed recall of the story recall task. When the rest of the variables were partialled out, SIP and inhibition accounted for more than 50% of the variance. CONCLUSIONS: As it occurs with visuospatial abilities in AN, basic cognitive abilities such as speed of information processing and cognitive inhibition may affect other cognitive functions such as delayed verbal memory regardless of immediate recall. These findings may help interpret performance on cognitive tests in future research.


Assuntos
Anorexia Nervosa/psicologia , Função Executiva/fisiologia , Inibição Psicológica , Rememoração Mental/fisiologia , Aprendizagem Verbal/fisiologia , Adolescente , Adulto , Cognição/fisiologia , Feminino , Humanos , Testes Neuropsicológicos , Adulto Jovem
5.
Arch Dermatol ; 136(11): 1347-52, 2000 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11074697

RESUMO

OBJECTIVE: To describe 10 patients with skin and soft tissue infection caused by rapidly growing mycobacteria after cosmetic liposuction and liposculpture. DESIGN: Case series. SETTINGS: Eight private geographically separate surgical facilities from a single metropolitan area. PATIENTS: Eight patients with definite and 2 with presumptive cases of skin and soft tissue infection caused by rapidly growing mycobacteria after cosmetic surgery procedures during a 24-month period. Microorganisms were isolated from the purulent drainage obtained from wounds or fistulas in 8 cases and were identified as Mycobacterium fortuitum (3 cases) and Mycobacterium abscessus (5 cases) by routine microbiologic techniques. Acid-fast bacilli were observed on Ziehl-Neelsen-stained smears in the 2 remaining cases, but these ultimately failed to grow. In 2 of the surgical units, no apparent environmental predisposing factors were identified after thorough microbiologic environmental investigation. Clinically, all patients exhibited signs of inflammation, microabscesses, and purulent wound drainage within 24 months of abdominal and/or thigh liposuction or homologous fat tissue injection. INTERVENTION: A combined therapeutic approach including surgical drainage, debridment, and prolonged (>3 months) treatment with combined antimicrobial agents including clarithromycin was used in all cases. RESULTS: Nine of 10 patients responded to the combined therapeutic approach, and no evidence of infection was present during at least 12 months of follow-up. CONCLUSION: To our knowledge, this is the first series of patients with rapidly growing mycobacterial infections to be described after liposuction and liposculpture. Rapidly growing mycobacteria should be included in the differential diagnosis of skin and soft tissue infection after cosmetic surgery.


Assuntos
Lipectomia/efeitos adversos , Infecções por Mycobacterium/diagnóstico , Infecção da Ferida Cirúrgica/diagnóstico , Abdome , Adulto , Antibacterianos/uso terapêutico , Nádegas , Terapia Combinada , Desbridamento , Diagnóstico Diferencial , Drenagem , Face , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mycobacterium/crescimento & desenvolvimento , Mycobacterium/isolamento & purificação , Infecções por Mycobacterium/etiologia , Infecções por Mycobacterium/patologia , Infecções por Mycobacterium/terapia , Infecção da Ferida Cirúrgica/etiologia , Infecção da Ferida Cirúrgica/patologia , Infecção da Ferida Cirúrgica/terapia
6.
Antibiot. infecc ; 5(1): 37-42, ene.-mar. 1997. tab
Artigo em Espanhol | LILACS | ID: lil-230670

RESUMO

Investigadores de 8 centros a nivel nacional evaluaron la eficacia y seguridad de la combinación sulbactan/cefoperazona (SBT/CPZ)m, en un estudio abierto en 51 pacientes hospitalizados (29 M, 22 F), con edades comprendidas entre 12-90 años con el diagnóstico (en base a historia clínica, hallazgos radiológicos y/o bacteriológicos) de neumonía nosocomial (NN). La combinación fue administrada como monoterapia en una dosis diaria de 4,76g (rango 39g) entre 1-14 días (X=9,94 días). De los 51 pacientes, 47 fueron evaluados para eficacia clínica; se obtuvo curación en 41 (87,2 por ciento), falla en 5 (10,6 por ciento) y recaída en 1(2 por ciento). Veintidos pacientes se incluyeron para evaluación de eficacia bacteriológica, ocurriendo erradicación en 19 (86 por ciento) y persistencia en 3 (14 por ciento) siendo estos: K.pneumoniae, P.aeruginosa + E.cloacae y P.aeruginosa + S.coagulasa negativa, los cuales respondieron al agregar amikacina. El 88 por ciento de los gérmenes aislados fueron Gram negativos. Como efecto adverso se reportó dispepsia en un paciente. Cinco pacientes muerieron, dos de ellos relacionados con la infección y tres por otras causas. Los resultados permiten concluir que la combinación SBT/CPZ usada como monoterapia constituye una alternativa apropiada para el tratamiento de neumonía nosocomial


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Cefoperazona/uso terapêutico , Infecção Hospitalar/mortalidade , Pneumonia/mortalidade , Pneumonia/terapia , Sulbactam/uso terapêutico
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