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1.
Am J Med Genet A ; 167(6): 1294-9, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25899236

RESUMO

Warfarin is a synthetic oral anticoagulant that crosses the placenta and can lead to a number of congenital abnormalities known as fetal warfarin syndrome. Our aim is to report on the follow-up from birth to age 8 years of a patient with fetal warfarin syndrome. He presented significant respiratory dysfunction, as well as dental and speech and language complications. The patient was the second child of a mother who took warfarin during pregnancy due to a metallic heart valve. The patient had respiratory dysfunction at birth. On physical examination, he had a hypoplastic nose, pectus excavatum, and clubbing of the fingers. Nasal fibrobronchoscopy showed upper airway obstruction due to narrowing of the nasal cavities. He underwent surgical correction with Max Pereira graft, zetaplasty, and osteotomies for the piriform aperture. At dental evaluation, he had caries and delayed eruption of the upper incisors. Speech and language assessment revealed high palate, mouth breathing, little nasal patency, and shortened upper lip. Auditory long latency and cognitive-related potential to auditory stimuli demonstrated functional changes in the cortical auditory pathways. We believe that the frequency of certain findings observed in our patient may be higher in fetal warfarin syndrome than is appreciated, since a significant number result in abortions, stillbirths, or children evaluated in the first year of life without a follow-up. Thus, a multidisciplinary approach and long-term monitoring of these patients may be necessary.


Assuntos
Anormalidades Induzidas por Medicamentos/patologia , Transtornos da Percepção Auditiva/patologia , Osso Nasal/anormalidades , Obstrução Nasal/patologia , Efeitos Tardios da Exposição Pré-Natal/patologia , Anormalidades Dentárias/patologia , Varfarina/efeitos adversos , Anormalidades Induzidas por Medicamentos/genética , Anormalidades Induzidas por Medicamentos/cirurgia , Transtornos da Percepção Auditiva/induzido quimicamente , Transtornos da Percepção Auditiva/genética , Transtornos da Percepção Auditiva/cirurgia , Criança , Feminino , Feto , Seguimentos , Humanos , Masculino , Mães , Osso Nasal/patologia , Osso Nasal/cirurgia , Obstrução Nasal/induzido quimicamente , Obstrução Nasal/genética , Obstrução Nasal/cirurgia , Osteotomia , Gravidez , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Efeitos Tardios da Exposição Pré-Natal/genética , Efeitos Tardios da Exposição Pré-Natal/cirurgia , Anormalidades Dentárias/induzido quimicamente , Anormalidades Dentárias/genética , Anormalidades Dentárias/cirurgia
2.
Immunol Invest ; 38(8): 797-811, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19860589

RESUMO

In order to analyze the effect of the two different versions of the cluster of differentiation 14 (CD14) receptor recognizing gene on survival, we determined the -260C>T single nucleotide polymorphism (SNP) frequencies in 514 critically ill patients. We compared the -260TT homozygotes with -260C allele carriers (-260CC and -260CT genotypes) and we demonstrated--260TT patients had the highest survival rate (82% vs 64%; p < 0.001; OR = 2.52, 95% CI = 1.43-4.46). We performed binary logistic regression, incorporating both -260C>T genotype groups and the main clinical predictors to exclude other risk factors that could influence the outcome from critical illness: higher age, APACHE II score, and length of stay at hospital, and the occurrence of sepsis and septic shock were risk factors to Intensive Care Unit (ICU) patient's mortality, but the -260TT genotype was protective factor toward survival (p = 0.001; OR = 3.08 95%CI = 1.54-5.98). Among septic and septic shock patients, -260TT genotype was also protective factor toward survival (p = 0.001; OR = 3.11 95%CI = 1.63-6.66 to septic patients, and p = 0.001; OR = 3.80 95%CI = 1.68-8.58 to patients with septic shock). Our results and our hypothesis suggest that the higher -260TT genotype frequency in ICU survivor patients is possibly explained by a beneficial effect on innate immunity signaling.


Assuntos
Estado Terminal/mortalidade , Receptores de Lipopolissacarídeos/genética , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Frequência do Gene , Genótipo , Homozigoto , Humanos , Imunidade Inata , Unidades de Terapia Intensiva , Masculino , Pessoa de Meia-Idade , Análise de Sobrevida
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