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1.
Ann Biol Clin (Paris) ; 69(4): 459-64, 2011.
Artigo em Francês | MEDLINE | ID: mdl-21896412

RESUMO

We report the case of an asymptomatic patient presenting a severe chronic renal hypokalaemia. Once being sure of no diuretics use, two hypothesis can be mentioned for a normotensive patient presenting an hypokalaemia associated with a metabolic alcalosis: Bartter syndrome or Gitelman syndrome. The highlighting of low magnesaemia and hypocalciuria strongly concentrates the diagnosis on Gitelman syndrome. First, this has been strengthened by the results of renal function tests and later it has confirmed by molecular diagnosis with the identification of a known homozygous mutation on SLC12A3 gene. In the patient family, the same chromosomal abnormality has been found in the young sister. For these two patients the treatment ordered is an antikaliuretic diuretic, magnesium and potassium supplements. This case shows the difficulty to diagnose Gitelman syndrome: it is frequently mistaken for Bartter syndrome. The main differences between these two syndromes are magnesaemia and calciuria. Furthemore , patients with Gitelman syndrome are often asymptomatic, this explains why prevalence of this illness is probably underestimated.


Assuntos
Síndrome de Bartter/diagnóstico , Síndrome de Gitelman/diagnóstico , Hipopotassemia/genética , Receptores de Droga/genética , Simportadores/genética , Adulto , Alcalose/genética , Doença Crônica , Diagnóstico Diferencial , Diuréticos/administração & dosagem , Feminino , Síndrome de Gitelman/tratamento farmacológico , Síndrome de Gitelman/genética , Humanos , Magnésio/administração & dosagem , Mutação , Potássio/administração & dosagem , Irmãos , Membro 3 da Família 12 de Carreador de Soluto , Espironolactona/administração & dosagem , Resultado do Tratamento
2.
Forensic Sci Int ; 207(1-3): e16-8, 2011 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-21193274

RESUMO

We reported on the death by poisoning of a one-month-old baby that had followed the death of one of her sister (due to cyamemazine overdose). Exhumation of the corpse was done 8 months after burial and revealed the presence of amitriptyline. Parent drug and its metabolite were analysed by HPLC-MS/MS in positive ionisation mode on a C(18) analytical column using a gradient of acetonitrile and 2mM formate buffer at pH=3. Quantification is based on the main ion m/z=233, the common product ion of nortriptyline (MH(+), m/z 264), amitriptyline (MH(+), m/z 278) and nortriptyline D3 used as internal standard (MH(+), m/z 267). Amitriptyline and nortriptyline in the liver were measured at a concentration of 29.8 and 3.6 µg/g, respectively. Hair analyses revealed the presence of amitriptyline and nortriptyline at concentrations of 1811 and 43 pg/mg, respectively, while complementary analyses showed the presence of bromazepam in the hair at a concentration of 740 pg/mg, thus documenting previous administrations. The mother confessed later having used the drinkable form of the pharmaceutical LAROXYL(®) by pouring the content of a 20 ml bottle (at 40 mg/ml) into the feeding-bottle of her child. The milk was sweet but still bitter and following the testimony of a close relative, the whole family helped to feed the crying baby.


Assuntos
Amitriptilina/análise , Antidepressivos Tricíclicos/análise , Homicídio , Intoxicação/diagnóstico , Amitriptilina/intoxicação , Ansiolíticos/análise , Ansiolíticos/intoxicação , Antidepressivos Tricíclicos/intoxicação , Bromazepam/análise , Bromazepam/intoxicação , Cromatografia Líquida , Exumação , Feminino , Toxicologia Forense , Cabelo/química , Humanos , Recém-Nascido , Fígado/química , Espectrometria de Massas , Nortriptilina/análise , Nortriptilina/intoxicação
3.
J Ethnopharmacol ; 106(2): 198-202, 2006 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-16455218

RESUMO

This paper is the first thorough analysis of takini, a hallucinogen used by the shamans of several peoples in Suriname, French Guiana, and the region east of the Para in Brazil. The drug is contained in the latex of the Brosimum acutifolium tree, and until now, its psychotropic properties appeared inconsistent with the more general medicinal uses of the tree in the surrounding region. Our chemical and botanical studies reveal that the active ingredient of takini is bufotenine; and that this compound is only contained in the subspecies Brosimum acutifolium Huber subsp. acutifolium C.C. Berg that is found in the same area of the eastern Guianas.


Assuntos
Bufotenina/análise , Alucinógenos/química , Látex , Moraceae , Xamanismo , Etnobotânica , Guiana Francesa , Humanos , Látex/química
4.
Int J Legal Med ; 120(4): 241-5, 2006 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-16059710

RESUMO

The purpose of this investigation was to determine the cause of death of a 13-year-old girl, where none was immediately evident. Our analysis showed it to be a very unusual case of a drug-facilitated sexual assault (DFSA), which led to the tragic death of the young rape victim and then to the suicide of the rapist. The incapacitating agent used was chloroform. The post-mortem analysis revealed a blood concentration of 833.9 mg/l for the girl, whereas the quantitation of chloroform in various fluids and viscera of the rapist proved that he had recently been handling the solvent (with concentrations in fat tissues 20 times higher than in his blood). This case draws attention to the need for broad searches for volatile substances in such investigations.


Assuntos
Clorofórmio/farmacocinética , Clorofórmio/intoxicação , Estupro , Solventes/farmacocinética , Solventes/intoxicação , Adolescente , Adulto , Clorofórmio/análise , Feminino , Toxicologia Forense , Cromatografia Gasosa-Espectrometria de Massas , Humanos , Masculino , Solventes/análise , Suicídio , Distribuição Tecidual
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