Enfermedad de Wilson: reporte de caso / Wilson ́s disease: a case report

La enfermedad de Wilson es una condición genética autosómica recesiva poco frecuente. Se ha identificado el gen ATP7B como el que codifica la proteína transportadora de cobre y su deficiencia lleva al acúmulo del metal en el cerebro, hígado y otros órganos vitales. Su diagnóstico clínico precoz es esencial para mejorar la calidad de vida del paciente. A continuación, se presenta el caso de un paciente de 20 años, masculino, con un cuadro clínico de 2 años de evolución de desinhibición, impulsividad, anartria y apraxia de la marcha, movimientos distónicos faciales y en 4 extremidades. Al examen físico se evidenció el anillo de Kayser Flescher a nivel ocular. En Resonancia Magnética Encefálica hiperintensidad en ganglios de la base y mesencéfalo en T2. Ceruloplasmina en suero 4.08 mg/dL. Cobre sérico 26.03ug/dL y cobre en orina de 24 horas 224.30ug/ 24h. Se confirma el diagnóstico de Enfermedad de Wilson, tratándose con D- Penicilamina, evidenciándose una evolución adecuada, con mejoría notable del cuadro neurológico. El tratamiento precoz permite una evolución favorable temprana del paciente, disminuyendo las secuelas neurológicas secundarias a la enfermedad; de ahí la importancia del reporte del presente caso.(AU)

BackgroundWilson's disease is a rare autosomal recessive genetic condition. The ATP7B gene has been identified as the one that encodes the copper transport protein and its deficiency leads to the accumulation of metal in the brain, liver and other vital organs. Your early clinical diagnosis is essential to improve the quality of life of the patient. Following we present the clinical case of a 20-year-old male patient who since 2 years ago, presented disinhibition, impulsivity, anartria and gait apraxia, facial dystonic movements and in extremities. To the physical exam, Kayser Flescher ring was present. In Brain Magnetic Resonance hyperintensity in Basal Ganglia and Midbrain. Serum Ceruloplasmin 4.08. Serum Copper 26.03. Urinary Cupper 224.30. The diagnosis of Wilson's disease is confirmed, treating with D-Penicillamine, evidencing an adequate evolution, with notable improvement of the neurological symptoms. Early treatment allows a favorable early evolution of the patient, reducing the neurological sequelae secondary to the disease; so that the importance of the report of this case.(AU)

Proteinograma sérico, com ênfase em proteínas de fase aguda, de bovinos sadios e bovinos portadores de enfermidade aguda de ocorrência natural / Serum proteinogram emphasizing acute phase proteins from healthy and acute naturally occurring diseased cattle

Nas últimas décadas, as proteínas de fase aguda (PFAs) tornaram-se biomarcadores de escolha em medicina humana para identificação e monitoração de doenças. Não há razão para imaginar que tais pesquisas clínicas não sejam igualmente úteis na medicina veterinária. Com o objetivo de verificar a importância das PFAs como biomarcadores de doenças inflamatórias em bovinos, determinou-se o proteinograma sérico, por meio da técnica de eletroforese SDS-PAGE, com interesse especial nas PFAs. Foram utilizados 30 animais, distribuídos em dois grupos: 15 bovinos sadios e 15 bovinos doentes (cinco com mastite estafilocócica, cinco com fotossensibilização e cinco com onfaloflebite). Os animais foram submetidos a colheitas diárias de sangue durante sete dias, enquanto internados no Hospital Veterinário da Unesp, Campus de Jaboticabal. Ceruloplasmina e haptoglobina apresentaram elevação significativa em animais acometidos por mastite, fotossensibilização e onfaloflebite (275,17% e 343,71%; 175,17% e 230,19%; 114,47% e 144,47%, respectivamente). A α1-glicoproteína ácida foi um bom biomarcador apenas em animais com mastite e fotossensibilização, elevando, respectivamente, suas concentrações séricas em 198,14% e 145,89%. Fibrinogênio mostrou-se um indicador confiável apenas em bovinos com mastite, com elevação de 146,5% em relação ao grupo sadio. Ficou clara a diferença na responsividade de distintas PFAs frente a diferentes estímulos inflamatórios. Ceruloplasmina e haptoglobina foram biomarcadores mais sensíveis e, portanto, mais confiáveis entre as PFAs estudadas nessa espécie.

Over the last few decades acute phase proteins (APP) have become the biomarkers of choice in human medicine to identify and monitor inflammation and infection. There is no reason to suppose that clinical investigations in veterinary medicine would not be equally assisted by APP assays. Aiming to verify the importance of APPs as biomarkers of inflammatory diseases in domestic cattle, serum protein profiles, especially APPs, were determined through the SDS-PAGE electrophoresis technique. Thirty animals were allotted in two groups: 15 healthy cattle and 15 clinically ill cattle (5 with staphylococcal mastitis, 5 with photosensitization and 5 with onphalophlebitis). All animals were submitted to daily blood sampling during 7 days, while interned in the Veterinarian Hospital from UNESP, Jaboticabal campus. Ceruloplasmin and haptoglobin were significantly elevated in animals with mastitis, photosensitization and onphalophlebitis (275.17% and 343.71%; 175.17% and 230.19%; 114.47% and 144.47%, respectively). α1-acid glycoprotein behaved as a good biomarker only in animals with mastitis and photosensitization, elevating respectively 198.14% and 145.89% of their serum levels. Fibrinogen was a reliable indicator only in animals undergoing mastitis, with a raise of 146.5%. The diverse responsiveness of different APP under distinct inflammatory stimuli was clear. Ceruloplasmin and haptoglobin were more sensible and, therefore, reliable biomarkers to the diseases studied in this species.

Status of a novel arginine carboxypeptidase generated during coagulation in rheumatoid arthritisIts relationship with fibronection, cerulolasmin and clinical status of the patients

A novel arginine carboxypeptidase which is generated from plasma components during coagulation and possibly during some inflammatory reactions was recently reported to be decreased in rheumatoid arthritis. To further clarify this point, serum and plasma arginine carboxypeptidase together with plasma fibronectin and serum ceruloplasmin were determined in 37 patients with rheumatoid arthritis and 16 healthy controls. The study revealed significantly decreased serum enzyme activity levels as well as serum/plasma enzyme ratio compared with control, while both ceruloplasmin and fibronectin levels were increased significantly. Increased consumption of this enzyme for metabolism of inflammatory peptides such as C3a, C5a and bradykinin may be responsible. Significant negative correlation existed between serum enzyme activity as well as serum/plasma enzyme ratio and both fibronectin and ceruloplasmin. The negative correlation with fibronectin could be due to involvement of the enzyme in removal of this molecule, while negative correlation with ceruloplasmin could be due to the anti-inflammatory function of ceruloplasmin as a metal binding protein. No obvious correlation could be observed between indices of clinical severity, a finding suggesting that arginine carboxypeptidase deficiency could be partly due to inherited or acquired inability to generate this enzyme which results in an accelerated onset of the disease