RESUMO
INTRODUCTION: Selective serotonin reuptake inhibitors (SSRI) are the most common antidepressants prescribed for elderly people. Although they are generally better tolerated than other antidepressant treatment classes, they can be responsible for potentially life-threatening hyponatremia, related to syndrome of inappropriate antidiuretic hormone secretion (SIADH). OBSERVATION: A 64 years-old woman was hospitalized for cognitive function alteration and vomiting after introduction of paroxetine for depressive symptoms. Serum investigations revealed hyponatremia (121 mmol/l) with low plasma osmolarity and normal natriuria consistent with diagnosis of SIADH. Hyponatremia was reversible after paroxetine withdrawal. DISCUSSION: Hyponatremia induced by SIADH is a serious but underestimated complication of SSRI treatment. This complication occurs in the elderly people within the first month of treatment. Monitoring of the serum sodium concentration during the first month of treatment is recommended for older patients.
Assuntos
Hiponatremia/induzido quimicamente , Síndrome de Secreção Inadequada de HAD/diagnóstico , Paroxetina/efeitos adversos , Inibidores Seletivos de Recaptação de Serotonina/efeitos adversos , Transtornos Cognitivos/etiologia , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant disorder caused by mutations in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. Until now, molecular data concerning FH in Morocco is still limited. To gain more information in this field and to assess the contribution of these three genes in the cause of FH determinism, we analyzed six unrelated Moroccan probands and twenty-five of their family's members. METHODS: After LDLR and APOB genotype analysis, we screened the LDLR gene for mutations using southern blot and PCR-sequencing analysis. We also screened the APOB gene for the two common mutations R3500Q and R3531C by PCR-mediated site-directed mutagenesis. The PCSK9 gene was analyzed by direct sequencing. RESULTS: We identified three novel mutations (C25X, IVS3+5G>T, D558A) and two mutations previously described (D151N, A480E) in the LDLR gene. The R3500Q and R3531C mutations are absent in our probands and for 1 proband, the implication of LDLR, APOB and PCSK9 genes was excluded, supporting the implication of a fourth gene in the determination of FH. CONCLUSION: These data are in agreement with our previous study that suggests a heterogeneous mutational spectrum of FH in Morocco.
Assuntos
Heterogeneidade Genética , Hipercolesterolemia/genética , Receptores de LDL/genética , Adolescente , Adulto , Idoso , Apolipoproteínas B/genética , Criança , Análise Mutacional de DNA/métodos , Saúde da Família , Feminino , Testes Genéticos , Genótipo , Humanos , Hipercolesterolemia/epidemiologia , Masculino , Pessoa de Meia-Idade , Marrocos/epidemiologia , Mutação , Linhagem , Reação em Cadeia da Polimerase/métodos , Pró-Proteína Convertase 9 , Pró-Proteína Convertases , Sensibilidade e Especificidade , Serina Endopeptidases/genéticaRESUMO
We report the case of a 46 year-old woman presenting an acquired angioedema. Angioedema is an C1 inhibitor deficiency. Patients present recurrent non inflammatory swelling of the head and extremities and recurrent attacks of severe abdominal pain. This clinical presentation is non specific : investigation of complement is useful for diagnosis. Laboratory testing show low serum levels of C4 with normal levels of C3. Low C1 esterase inhibitor confirm the diagnosis. If acquired angioedema, a cause must be searched.
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Angioedema/diagnóstico , Angioedema/etiologia , Proteína Inibidora do Complemento C1/fisiologia , Feminino , Humanos , Pessoa de Meia-IdadeRESUMO
Tuberculosis may affect several organs and its prevalence is continuously increasing. Laboratory diagnosis still remains difficult. Adenosine deaminase (Ada) is an enzyme which contributes to purine metabolism and its presence in lymphocyte, monocyte and macrophage cells is associated with T cells mediated immunity. Many studies have shown the usefulness of Ada determination in various biological fluids for the diagnosis of tuberculosis. In pleural fluid, cutoff vary from 33 to 48 U/L, with sensitivity higher than 80% and specificity near 100%. In peritoneal fluid the cutoff value is 30 U/L. In cerebrospinal fluid, the value of 7 U/L can make discriminate negative and positive cases with a good sensitivity and specificity. The data from the literature show that 50 U/L in pericardic fluid is a reliable threshold for tuberculosis diagnosis. Ada determination in serum is not as relevant as in others fluids because of its low specificity. Ada measurement in biological fluids, easy and not expensive, may be add to other biological tests for tuberculosis diagnosis.
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Adenosina Desaminase/análise , Líquidos Corporais/química , Tuberculose/diagnóstico , Humanos , Sensibilidade e Especificidade , Tuberculose/enzimologiaRESUMO
We report here the case of a young woman, who came by herself at the emergency department, presenting with a severe hyponatremia (106 mmol/L), as shown by her initial biological report. The biological comment leads us to review the hyponatremia considering on one hand osmolarity and on the other hand volemia. Patient's tests results showed hyponatremia with hypoosmolarity and isovolemia, due to her potomania. At last, the authors expose the main guidelines for the correction of hyponatremia.
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Hiponatremia/diagnóstico , Adulto , Árvores de Decisões , Feminino , Humanos , Hiponatremia/sangue , Índice de Gravidade de DoençaRESUMO
Takayasu arteritis, also called pulseless women disease, is a chronic vasculitis of unknown aetiology, which primarily involves the aorta, its branches and coronary and pulmonary arteries. It is an uncommon disease with a variety of presentations and most frequently found in Asia than in Europe. We report a case of a 52-year-old woman, suffering from Takayasu arteritis for 19 years. She was admitted to the hospital for diffuse pain and oedema. Biological tests pointed out proteinuria with renal failure, which was confirmed by a renal biopsy. The association of Takayasu arteritis and renal failure is unusual. This review focuses on the biological manifestations of Takayasu arteritis and on the link between this disease and the renal failure observed in this case.
Assuntos
Síndrome Nefrótica/etiologia , Proteinúria/etiologia , Insuficiência Renal/etiologia , Arterite de Takayasu/complicações , Biópsia , Eletroforese das Proteínas Sanguíneas , Proteína C-Reativa/metabolismo , Creatinina/sangue , Edema/etiologia , Evolução Fatal , Feminino , Fibrinogênio/metabolismo , Haptoglobinas/metabolismo , Humanos , Inflamação , Pessoa de Meia-Idade , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/metabolismo , Dor/etiologia , Proteinúria/diagnóstico , Proteinúria/metabolismo , Insuficiência Renal/diagnóstico , Insuficiência Renal/metabolismo , Choque Séptico/etiologia , Acidente Vascular Cerebral/etiologia , Ureia/sangue , alfa-Macroglobulinas/metabolismoRESUMO
A simple procedure for the determination of cotinine, major metabolite of nicotine in urine, is described. The assay involved a liquid-liquid extraction with dichloromethane in alkaline environment. The extract was dried at ambient temperature under a gentle stream of nitrogen. The residue was dissolved in 300 microl of mobile phase and 30 microl aliquot was injected via an automatic sampler into the liquid chromatograph and eluted with the mobile phase (10-9%, v/v methanol and acetonitrile, respectively in potassium dihydrogenphosphate buffer adjusted to pH 3.4) at a flow rate of 1 ml/min on a C8 Symmetry cartridge column (5 microm, 150 mm x 3.9 mm, Waters) at 25 degrees C. The eluate was detected at 260 nm. Internal standard was 2-phenylimidazole. Sensitive and specific, this technique was performed to test urine of diabetic patients (smokers and non-smokers) admitted in an endocrinology service. Urinary cotinine seems to be a better marker of smoking status than thiocyanates.
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Cromatografia Líquida de Alta Pressão/métodos , Cotinina/urina , Calibragem , Diabetes Mellitus/urina , Humanos , Sensibilidade e Especificidade , Fumar/urina , Espectrofotometria UltravioletaRESUMO
Cardio-vascular diseases are the most common cause of death in industrialized countries. A new marker has emerged among offending risk factors in the past few years: homocysteine. This sulphured amino-acid is an important intermediate in transsulphuration and remethylation reactions of methionine's metabolism. We proposed to evaluate a home made method of determination for this parameter by high performance liquid chromatography (HPLC) and to compare it to fluorescence polarization immunoassay technique (FPIA) and to gaz phase chromatography (CG-SM). This method associated with good sensibility and precision remain much less expensive than FPIA technique.