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2.
Rev. lab. clín ; 10(4): 221-226, oct.-dic. 2017. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-166855

RESUMO

La recertificación consiste en certificar la renovación de las competencias específicas de los profesionales titulados referidos en la ley de ordenación de las profesiones sanitarias. El objetivo es certificar que el profesional esté cualificado para realizar un ejercicio profesional con el fin de garantizar una asistencia sanitaria de calidad. Las organizaciones colegiales profesionales y las sociedades científicas deben contribuir a facilitar el camino del desarrollo profesional y a la Administración sanitaria le corresponde ser valedora y garante en todo el proceso (AU)


Re-accreditation consists in certifying the renewal of specific competencies of qualified professionals as mentioned in the health profession management law. The objective is to certify that the professional is qualified to perform a professional exercise in order to guarantee quality healthcare. The professional bodies and scientific societies should contribute by facilitating the continuing professional development, and the Health Administration should be responsible for guaranteeing the whole process (AU)


Assuntos
Humanos , Certificação/organização & administração , Certificação/normas , Técnicas de Laboratório Clínico/normas , Bioquímica/normas , Serviços de Laboratório Clínico/normas , Bioquímica/organização & administração , Testes de Química Clínica/normas
3.
Rev Neurol ; 59(2): 71-6, 2014 Jul 16.
Artigo em Espanhol | MEDLINE | ID: mdl-25005318

RESUMO

INTRODUCTION: The cri du chat syndrome (CDCS) come from a partial or total deletion of the short arm of chromosome 5, being one of the most common deletion syndromes in human beings. The great majority of patients are diagnosed between the first month and first year of life, but herein we report a finding of a CDCS in a woman with a suspect of spinocerebellar ataxia, and a family medical record of ataxia and bipolar disorder. We pay special attention to the clinical features as well as the diagnostics tests, used to identify the CDCS. CASE REPORT: We report a case of a 46 years-old woman showing a borderline intelligence and bilateral cataract surgery at the age of 43. Beginning of symptoms in childhood included hypoacusia, ataxia, dysarthria, dysphagia, depression, cognitive impairment and bipolar disorder. Physical examination showed microcephaly, micrognathia, talipes equinovarus and ataxia. Karyotype and array-CGH were carried out on peripheral blood. The patient showed a rearrangement involving chromosomes 5 and 15, as well as an inversion of chromosome 9: 45,XX,inv9(p11q13);t(5,15)(p15.33;q11.2). Array comparative genomic hybridization was performed showing a 2.91 Mb deletion at 5p15.33, genomic formula arr 5p15.33 (151537-3057771)x1. The deletion involved 20 genes, including TERT gene. CONCLUSIONS: The multiple gene deletions confirmed the CDCS diagnosis, being responsible for the patient phenotype. It has been showed up the importance of using the correct diagnosis techniques (array-CGH, peripheral blood karyotype) as well as their appropriate choice.


Assuntos
Hibridização Genômica Comparativa , Síndrome do Miado do Gato/diagnóstico , Adolescente , Adulto , Atrofia , Transtorno Bipolar/diagnóstico , Transtorno Bipolar/genética , Encéfalo/patologia , Catarata/genética , Ataxia Cerebelar/genética , Deleção Cromossômica , Cromossomos Humanos Par 5/ultraestrutura , Transtornos Cognitivos/genética , Síndrome do Miado do Gato/genética , Síndrome do Miado do Gato/patologia , Diagnóstico Tardio , Disartria/genética , Saúde da Família , Feminino , Perda Auditiva/genética , Humanos , Achados Incidentais , Masculino , Pessoa de Meia-Idade , Fenótipo
4.
Rev. neurol. (Ed. impr.) ; 59(2): 71-76, 16 jul., 2014. tab, ilus
Artigo em Espanhol | IBECS | ID: ibc-127117

RESUMO

Introducción. El síndrome cri du chat (SCDC) tiene su origen en una deleción parcial o total del brazo corto del cromosoma 5, y es uno de los síndromes de deleción cromosómica más frecuentes en humanos. La mayoría de los pacientes se diagnostica entre el primer mes y el primer año de vida, si bien aquí se describe el hallazgo de un SCDC en una mujer con sospecha de ataxia espinocerebelar y antecedentes familiares de trastorno bipolar y ataxia, con especial atención a las características clínicas y las técnicas diagnósticas que permitieron su identificación. Caso clínico. Mujer de 46 años que presentaba una inteligencia límite, intervenida a los 43 años de faquectomía bilateral. El inicio de la sintomatología fue durante la infancia, e incluía hipoacusia, ataxia, disartria, disfagia, depresión, deterioro cognitivo y trastorno bipolar. La exploración física reveló microcefalia, micrognatia, pies equinos y ataxia. Se realizó cariotipo y array-CGH en sangre periférica. La paciente presentaba una traslocación que involucraba los cromosomas 5 y 15, y una inversión del cromosoma 9: 45,XX,inv9(p11q13);t(5,15)(p15.33;q11.2). El array-CGH mostró una deleción de 2,91 Mb en 5p15.33, fórmula genómica arr 5p15.33 (151537-3057771)x1, que involucraba 20 genes, incluyendo el gen TERT. Conclusiones. La deleción de múltiples genes confirmó el diagnóstico de SCDC y es la responsable del fenotipo de la paciente. Se pone de manifiesto la importancia de utilizar técnicas adecuadas de diagnóstico (array-CGH, cariotipo en sangre periférica) y la correcta elección de éstas (AU)


Introduction. The cri du chat syndrome (CDCS) come from a partial or total deletion of the short arm of chromosome 5, being one of the most common deletion syndromes in human beings. The great majority of patients are diagnosed between the first month and first year of life, but herein we report a finding of a CDCS in a woman with a suspect of spinocerebellar ataxia, and a family medical record of ataxia and bipolar disorder. We pay special attention to the clinical features as well as the diagnostics tests, used to identify the CDCS. Case report. We report a case of a 46 years-old woman showing a borderline intelligence and bilateral cataract surgery at the age of 43. Beginning of symptoms in childhood included hypoacusia, ataxia, dysarthria, dysphagia, depression, cognitive impairment and bipolar disorder. Physical examination showed microcephaly, micrognathia, talipes equinovarus and ataxia Karyotype and array-CGH were carried out on peripheral blood. The patient showed a rearrangement involving chromosomes 5 and 15, as well as an inversion of chromosome 9: 45,XX,inv9(p11q13);t(5,15)(p15.33;q11.2). Array comparative genomic hybridization was performed showing a 2.91 Mb deletion at 5p15.33, genomic formula arr 5p15.33 (151537-3057771)x1. The deletion involved 20 genes, including TERT gene. Conclusions. The multiple gene deletions confirmed the CDCS diagnosis, being responsible for the patient phenotype. It has been showed up the importance of using the correct diagnosis techniques (array-CGH, peripheral blood karyotype) as well as their appropriate choice (AU)


Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Síndrome do Miado do Gato/diagnóstico , Testes Genéticos/métodos , Monossomia/genética , Achados Incidentais , Deleção Cromossômica , Cariotipagem
5.
Inorg Chem ; 50(8): 3772-84, 2011 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-21413756

RESUMO

Herein we report a detailed investigation of the complexation properties of the macrocyclic decadentate receptor N,N'-Bis[(6-carboxy-2-pyridil)methyl]-4,13-diaza-18-crown-6 (H(2)bp18c6) toward different divalent metal ions [Zn(II), Cd(II), Pb(II), Sr(II), and Ca(II)] in aqueous solution. We have found that this ligand is especially suited for the complexation of large metal ions such as Sr(II) and Pb(II), which results in very high Pb(II)/Ca(II) and Pb(II)/Zn(II) selectivities (in fact, higher than those found for ligands widely used for the treatment of lead poisoning such as ethylenediaminetetraacetic acid (edta)), as well as in the highest Sr(II)/Ca(II) selectivity reported so far. These results have been rationalized on the basis of the structure of the complexes. X-ray crystal diffraction, (1)H and (13)C NMR spectroscopy, as well as theoretical calculations at the density functional theory (B3LYP) level have been performed. Our results indicate that for large metal ions such as Pb(II) and Sr(II) the most stable conformation is Δ(δλδ)(δλδ), while for Ca(II) our calculations predict the Δ(λδλ)(λδλ) form being the most stable one. The selectivity that bp18c6(2-) shows for Sr(II) over Ca(II) can be attributed to a better fit between the large Sr(II) ions and the relatively large crown fragment of the ligand. The X-ray crystal structure of the Pb(II) complex shows that the Δ(δλδ)(δλδ) conformation observed in solution is also maintained in the solid state. The Pb(II) ion is endocyclically coordinated, being directly bound to the 10 donor atoms of the ligand. The bond distances to the donor atoms of the pendant arms (2.55-2.60 Å) are substantially shorter than those between the metal ion and the donor atoms of the crown moiety (2.92-3.04 Å). This is a typical situation observed for the so-called hemidirected compounds, in which the Pb(II) lone pair is stereochemically active. The X-ray structures of the Zn(II) and Cd(II) complexes show that these metal ions are exocyclically coordinated by the ligand, which explains the high Pb(II)/Cd(II) and Pb(II)/Zn(II) selectivities. Our receptor bp18c6(2-) shows promise for application in chelation treatment of metal intoxication by Pb(II) and (90)Sr(II).


Assuntos
Cálcio/química , Chumbo/química , Compostos Macrocíclicos/química , Compostos Organometálicos/química , Estrôncio/química , Cristalografia por Raios X , Concentração de Íons de Hidrogênio , Ligantes , Modelos Moleculares , Estrutura Molecular , Compostos Organometálicos/síntese química , Teoria Quântica
6.
Inorg Chem ; 48(24): 11821-31, 2009 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-19911785

RESUMO

The thermodynamic stability of the Pb(II), Cd(II), Zn(II), and Ca(II) complexes with the dianionic macrocyclic ligand N,N'-bis[(6-carboxy-2-pyridyl)methyl]-1,7-diaza-12-crown-4 (H(2)bp12c4) has been investigated by pH-potentiometric titrations at 25 degrees C in 0.1 M KNO(3). The stability constants vary in the following order: Cd(II) > Zn(II) approximately Pb(II) > Ca(II). As a consequence, H(2)bp12c4 present an important Cd(II)/Ca(II) selectivity, as well as a certain selectivity for Cd(II) over Zn(II). To rationalize these results, a detailed investigation of the structure of these complexes has been carried out both in solid state and in aqueous solution. Furthermore, the [M(bp12c4)] complexes (M = Ca, Zn, Cd, or Pb) were characterized by means of density functional theory (DFT) calculations (B3LYP model) to obtain information on their solution structures and to investigate the possible stereochemical activity of the Pb(II) lone pair. Our results show that in all cases the metal ion is octacoordinated by the ligand, a situation that is particularly rare for Zn(II) complexes. The coordination polyhedra observed in the solid state for the [M(bp12c4)] complexes (M = Zn, Cd, or Ca) is closely related to the conformation adopted by the ligand in the corresponding complex: The Zn(II) complex adopts a Delta(lambdalambdalambdalambda) conformation in the solid state, which results in a square antiprismatic coordination, while the Delta(deltadeltadeltadelta) conformation observed for the Cd(II) and Ca(II) analogues yields inverted-square antiprismatic geometries. The X-ray crystal structure of the Pb(II) analogue shows that the metal ion is directly bound to the eight donor atoms of the ligand, but the bond distances of the metal coordination environment indicate an asymmetrical coordination of the cation by the ligand, which is attributed to the stereochemical activity of the Pb(II) lone pair. In aqueous solution the Ca(II), Zn(II), and Cd(II) complexes show rigid C(2) symmetries, while the Pb(II) analogue presents a more flexible structure.


Assuntos
Cádmio/química , Cálcio/química , Chumbo/química , Compostos Macrocíclicos/química , Compostos Organometálicos/síntese química , Zinco/química , Cristalografia por Raios X , Concentração de Íons de Hidrogênio , Ligantes , Modelos Moleculares , Estrutura Molecular , Compostos Organometálicos/química
7.
Inorg Chem ; 48(23): 10976-87, 2009 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-19877597

RESUMO

Herein we report the coordination properties toward Cd(II), Pb(II), Ca(II), and Zn(II) of a new octadentate ligand (py-H(2)bcpe) based on a ethane-1,2-diamine unit containing two picolinate and two pyridyl pendants, which is structurally derived from the previous reported ligand bcpe. Potentiometric studies have been carried out to determine the protonation constants of the ligand and the stability constants of the complexes with these cations. The introduction of the pyridyl pendants in bcpe provokes a very important increase of the logK(ML) values obtained for the Pb(II) and Cd(II) complexes, while this effect is less important in the case of the Zn(II) analogue. As a result, py-bcpe shows a certain selectivity for Cd(II) and Pb(II) over Zn(II) while keeping good Pb(II)/Ca(II) and Cd(II)/Ca(II) selectivities, and the new receptor py-bcpe can be considered as a new structural framework for the design of novel Cd(II) and Pb(II) extracting agents. Likewise, the stabilities of the Cd(II) and Pb(II) complexes are higher than those of the corresponding EDTA analogues. The X-ray crystal structure of [Zn(py-bcpe)] shows hexadentate binding of the ligand to the metal ion, the coordination polyhedron being best described as a severely distorted octahedron. However, the X-ray crystal structure of the Pb(II) analogue shows octadentate binding of the ligand to the metal ion. A detailed investigation of the structure in aqueous solution of the complexes by using nuclear magnetic resonance (NMR) techniques and density functional theory (DFT) calculations (B3LYP) shows that while in the Zn(II) complex the metal ion is six-coordinated, in the Pb(II) and Ca(II) analogues the metal ions are eight-coordinated. For the Cd(II) complex, our results suggest that in solution the complex exists as a mixture of seven- and eight-coordinated species. DFT calculations performed both in the gas phase and in aqueous solution have been also used to investigate the role of the Pb(II) lone pair in the structure of the [Pb(py-bcpe)] complex.


Assuntos
Ácidos Carboxílicos/química , Quelantes/química , Compostos Organometálicos/química , Piridinas/química , Cádmio/química , Cálcio/química , Quelantes/síntese química , Cristalografia por Raios X , Concentração de Íons de Hidrogênio , Chumbo/química , Ligantes , Modelos Moleculares , Estrutura Molecular , Compostos Organometálicos/síntese química , Termodinâmica , Zinco/química
8.
Dalton Trans ; (42): 5754-65, 2008 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-18941663

RESUMO

Herein, we report the coordination properties towards Zn(ii), Cd(ii) and Pb(ii) of two hexadentate ligands containing pyridinecarboxylate groups with ethane-1,2-diamine (bcpe) or cyclohexane-1,2-diamine (bcpc) backbones. The X-ray crystal structures of [Zn(bcpe)], [Cd(bcpe)] and [Cd(bcpc)] show hexadentate binding of the ligand to the metal ions, with the coordination polyhedron being best described as a severely distorted octahedron. The X-ray crystal structure of the Pb(ii) analogue shows the presence of tetrameric structural units [Pb(4)(bcpe)(4)] in which the four Pb(ii) ions are bridged by carboxylate oxygen atoms. While in the Zn(ii) and Cd(ii) complexes the bcpe ligand adopts a twist-wrap (tw) conformation in which the ligand wraps around the metal ion by twisting the pyridyl units relative to each other, for the Pb(ii) complex a twist-fold (tf) conformation, where a slight twisting of the pyridyl units is accompanied by an overall folding of the two pyridine units relative to each other is observed. Theoretical calculations performed at the DFT (B3LYP) level on the [Pb(bcpe)] and [Pb(bcpc)] systems indicate that the tf conformation is more stable than the tw form both in the solid state and in aqueous solution. The analysis of the natural bond orbitals (NBOs) indicate that the Pb(ii) lone-pair is polarized by a substantial 6p contribution, which results in a hemi-directed coordination geometry around the metal ion. Potentiometric studies have been carried out to determine the protonation constants of the ligands and the stability constants of the complexes with Zn(ii), Cd(ii), Pb(ii) and Ca(ii). The replacement of the ethylene backbone of bcpe by a cyclohexylene ring causes a very important increase in the stability constant of the Pb(ii) complex (ca. 2.3 logK units), while this effect is less important for Cd(ii) (ca. 1.4 logK units). However, the introduction of the cyclohexylene ring does not substantially affect the stability of the Zn(ii) and Ca(ii) complexes. The ligand bcpc shows Pb/Ca and Cd/Ca selectivities [10(8.9) and 10(9.8), respectively] superior to those of extracting agents, such as EDTA, already used in Pb(ii) and Cd(ii) removal from contaminated water and soils.


Assuntos
Cádmio/química , Ácidos Carboxílicos/química , Chumbo/química , Piridinas/química , Zinco/química , Cálcio/química , Química/métodos , Cristalografia por Raios X , Íons , Cinética , Ligantes , Modelos Químicos , Modelos Teóricos , Conformação Molecular , Oxigênio/química
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