Integrative taxonomy reveals a new species of Cyphocharax (Characiformes: Curimatidae) from the Upper Paraíba do Sul River basin, Brazil

A new species of Cyphocharax is described from the Upper Paraíba do Sul River basin, São Paulo, Brazil based on integrated morphological and molecular delimitation criteria. It is morphologically distinguished from its congeners by the presence of a round, dark blotch at the midlength of the caudal peduncle not extending to the proximal portions of the median caudal-fin rays, 19-20 circumpeduncular scales, 34-41 perforated lateral-line scales, 6-7 longitudinal scale rows above and below the lateral line, greatest body depth corresponding to 34.7-39.9% of standard length (SL), and the caudal peduncle depth corresponding to 13.3-15.2% of SL. The lowest genetic distances between the new species and other congeners are: 2.5% from C. gilbert, followed by 3.0% from C. santacatarinae, and 3.2% from C. aff. gilbert. All species delimitation criteria employed herein corroborated the recognition of the new species. In addition, comments on its conservation status are provided.(AU)

Uma nova espécie de Cyphocharax é descrita do alto rio Paraíba do Sul, São Paulo, Brasil, baseada em dados morfológicos e moleculares integrados. A espécie se distingue morfologicamente de seus congêneres por: apresentar uma mancha escura arredondada na porção média do pedúnculo caudal, não se estendendo à porção proximal dos raios medianos da nadadeira caudal, 19-20 escamas circunpedunculares, 34-41 escamas perfuradas na linha lateral, 6-7 escamas acima e abaixo da linha lateral, altura do corpo correspondendo à 34,7-39,9% do comprimento padrão (CP), e a altura do pedúnculo caudal correspondendo a 13,3-15,2% do CP. As menores distâncias genéticas entre a espécie nova e outras congêneres são: 2,5% de C gilbert, seguida de 3,0% de C. santacatarinae, e 3,2% de C. aff. gilbert. Todos os critérios de delimitação de espécies aqui empregados corroboraram o reconhecimento da nova espécie. Adicionalmente, comentários sobre seu estado de conservação são fornecidos.(AU)

Integrative taxonomy reveals a new species of Cyphocharax (Characiformes: Curimatidae) from the Upper Paraíba do Sul River basin, Brazil

A new species of Cyphocharax is described from the Upper Paraíba do Sul River basin, São Paulo, Brazil based on integrated morphological and molecular delimitation criteria. It is morphologically distinguished from its congeners by the presence of a round, dark blotch at the midlength of the caudal peduncle not extending to the proximal portions of the median caudal-fin rays, 19­20 circumpeduncular scales, 34­41 perforated lateral-line scales, 6­7 longitudinal scale rows above and below the lateral line, greatest body depth corresponding to 34.7­39.9% of standard length (SL), and the caudal peduncle depth corresponding to 13.3­15.2% of SL. The lowest genetic distances between the new species and other congeners are: 2.5% from C. gilbert, followed by 3.0% from C. santacatarinae, and 3.2% from C. aff. gilbert. All species delimitation criteria employed herein corroborated the recognition of the new species. In addition, comments on its conservation status are provided.(AU)

Uma nova espécie de Cyphocharax é descrita do alto rio Paraíba do Sul, São Paulo, Brasil, baseada em dados morfológicos e moleculares integrados. A espécie se distingue morfologicamente de seus congêneres por: apresentar uma mancha escura arredondada na porção média do pedúnculo caudal, não se estendendo à porção proximal dos raios medianos da nadadeira caudal, 19­20 escamas circunpedunculares, 34­41 escamas perfuradas na linha lateral, 6­7 escamas acima e abaixo da linha lateral, altura do corpo correspondendo à 34,7­39,9% do comprimento padrão (CP), e a altura do pedúnculo caudal correspondendo a 13,3­15,2% do CP. As menores distâncias genéticas entre a espécie nova e outras congêneres são: 2,5% de C gilbert, seguida de 3,0% de C. santacatarinae, e 3,2% de C. aff. gilbert. Todos os critérios de delimitação de espécies aqui empregados corroboraram o reconhecimento da nova espécie. Adicionalmente, comentários sobre seu estado de conservação são fornecidos.(AU)

Associations between Gilbert's syndrome and personality characteristics

Abstract Objective Gilbert's syndrome (GS) is a benign genetic disorder that is characterized by intermittent mild jaundice in which the liver doesn't process bilirubin properly. The aim of this study was to determine whether GS patients have a different personality structure and if there are associations between properties of temperament and character and total bilirubin levels. Methods A total of 1665 young male individuals aged from 19 to 30 who were admitted for occupational examinations were included in this study. Careful patient history was taken, a detailed physical examination was conducted, and hematologic and biochemical tests and abdominal ultrasonography were performed. The Turkish version of the Temperament and Character Inventory (TCI) was administered to all participants. 81 patients diagnosed with GS and 150 randomly chosen healthy individuals (control group) were investigated with comparison and correlation analyses. Results GS patients had higher scores than healthy controls for disorderliness (NS4) (p = 0.018), sentimentality (RD1) (p = 0.042), and fatigability (HA4) (p = 0.03). Moreover, Gilbert syndrome patients scored lower than controls for empathy (C2) (p = 0.041) and transpersonal identification (ST2) (p = 0.044). Bilirubin levels were positively associated with disorderliness (NS4) (r = 0.141, p = 0.032) and fatigability (HA4) (r = 0.14, p = 0.033). Conclusions GS patients may have some different personality characteristics from healthy individuals. This study is an initial exploration of the personality structure of GS patients and the findings should be interpreted with caution. Further prospective studies are needed to identify the relationship between Gilbert disease and personality characteristics.

Associations between Gilbert's syndrome and personality characteristics.

OBJECTIVE: Gilbert's syndrome (GS) is a benign genetic disorder that is characterized by intermittent mild jaundice in which the liver doesn't process bilirubin properly. The aim of this study was to determine whether GS patients have a different personality structure and if there are associations between properties of temperament and character and total bilirubin levels. METHODS: A total of 1665 young male individuals aged from 19 to 30 who were admitted for occupational examinations were included in this study. Careful patient history was taken, a detailed physical examination was conducted, and hematologic and biochemical tests and abdominal ultrasonography were performed. The Turkish version of the Temperament and Character Inventory (TCI) was administered to all participants. 81 patients diagnosed with GS and 150 randomly chosen healthy individuals (control group) were investigated with comparison and correlation analyses. RESULTS: GS patients had higher scores than healthy controls for disorderliness (NS4) (p = 0.018), sentimentality (RD1) (p = 0.042), and fatigability (HA4) (p = 0.03). Moreover, Gilbert syndrome patients scored lower than controls for empathy (C2) (p = 0.041) and transpersonal identification (ST2) (p = 0.044). Bilirubin levels were positively associated with disorderliness (NS4) (r = 0.141, p = 0.032) and fatigability (HA4) (r = 0.14, p = 0.033). CONCLUSIONS: GS patients may have some different personality characteristics from healthy individuals. This study is an initial exploration of the personality structure of GS patients and the findings should be interpreted with caution. Further prospective studies are needed to identify the relationship between Gilbert disease and personality characteristics.

Influence of UGT1A1 promoter polymorphism, α-thalassemia and ßs haplotype in bilirubin levels and cholelithiasis in a large sickle cell anemia cohort.

Hyperbilirubinemia in patients with sickle cell anemia (SCA) as a result of enhanced erythrocyte destruction, lead to cholelithiasis development in a subset of patients. Evidence suggests that hyperbilirubinemia may be related to genetic variations, such as the UGT1A1 gene promoter polymorphism, which causes Gilbert syndrome (GS). Here, we aimed to determine the frequencies of UGT1A1 promoter alleles, alpha thalassemia, and ßS haplotypes and analyze their association with cholelithiasis and bilirubin levels. The UGT1A1 alleles, -3.7 kb alpha thalassemia deletion and ßS haplotypes were determined using DNA sequencing and PCR-based assays in 913 patients with SCA. The mean of total and unconjugated bilirubin and the frequency of cholelithiasis in GS patients were higher when compared to those without this condition, regardless of age (P < 0.05). Cumulative analysis demonstrated an early age-at-onset for cholelithiasis in GS genotypes (P < 0.05). Low fetal hemoglobin (HbF) levels and normal alpha thalassemia genotype were related to cholelithiasis development (P > 0.05). However, not cholelithiasis but total and unconjugated bilirubin levels were associated with ßS haplotype. These findings confirm in a large cohort that the UGT1A1 polymorphism influences cholelithiasis and hyperbilirubinemia in SCA. HbF and alpha thalassemia also appear as modulators for cholelithiasis risk.

Tyrosine kinase inhibitor resistance: a case report on chronic myeloid leukemia and Gilbert's syndrome.

Although tyrosine kinase inhibitors (TKI) are commonly used as targeted treatment options for chronic myeloid leukemia (CML), its use is associated to UGT1A1 polymorphisms and, consequently, are related to a higher risk of manifesting Gilbert's syndrome, a genetic disorder associated to hyperbilirubinemia. The report of concomitant condition of CML and Gilbert's Syndrome is uncommon. Therefore, the aim of this study was to report the clinical case of a patient diagnosed with CML and subsequently, with Gilbert's Syndrome. A 34-year-old female was diagnosed with CML. On physical examination, spleen and liver were palpable, indicating hepatosplenomegaly. Laboratory findings of peripheral blood showed leukocytosis (165,190/mm3), 6% of blasts and a bone marrow biopsy showed hypercellularity by granulocytic series with moderate maturation delay. After diagnosis, the patient immediately started chemotherapy with the TKI Imatinib. One year after treatment, due to the partial response, the therapy was changed to Nilotinib, resulting in a complete response. Despite the absence of hyperbilirubinemia, a genetic study by polymerase chain reaction (PCR) verified a positivity for Gilbert's Syndrome. TKIs are also inhibitors of the enzyme UDPGT1, leading to deficient glucuronidation, causing manifestation of Gilbert's Syndrome. This report demonstrates the case of a patient that, besides having two coexisting conditions that could cause hyperbilirubinemia, did not have bilirubin alterations and it highlights the importance of having genetic investigations in cancer patients, in order to identify secondary diseases that could worsen the course of treatment.

Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening.

BACKGROUND: Glucose-6-phosphate dehydrogenase deficiency (G6PDd) newborn screening is still a matter of debate due to its highly heterogeneous birth prevalence and clinical expression, as well as, the lack of enough knowledge on its natural history. Herein, we describe the early natural clinical course and the underlying GDPD genotypes in infants with G6PDd detected by newborn screening and later studied in a single follow-up center. G6PDd newborns were categorized into three groups: group 1: hospitalized with or without neonatal jaundice (NNJ); group 2: non-hospitalized with NNJ; and group 3: asymptomatic. Frequencies of homozygous UGT1A1*28 (rs34983651) genotypes among G6PDd patients with or without NNJ were also explored. RESULTS: A total of 81 newborns (80 males, one female) were included. Most individuals (46.9%) had NNJ without other symptoms, followed by asymptomatic (42.0%) and hospitalized (11.1%) patients, although the hospitalization of only 3 of these patients was related to G6PDd, including NNJ or acute hemolytic anemia (AHA). Nine different G6PDd genotypes were found; the G6PD A-202A/376G genotype was the most frequent (60.5%), followed by the G6PD A-376G/968C (22.2%) and the Union-Maewo (rs398123546, 7.4%) genotypes. These genotypes produce a wide range of clinical and biochemical phenotypes with significant overlapping residual enzymatic activity values among class I, II or III variants. Some G6PD A-202A/376G individuals had enzymatic values that were close to the cutoff value (5.3 U/g Hb, 4.6 and 4.8 U/g Hb in the groups with and without NNJ, respectively), while others showed extremely low enzymatic values (1.1 U/g Hb and 1.4 U/g Hb in the groups with and without NNJ, respectively). Homozygosity for UGT1A1*28 among G6PDd patients with (11.9%, N = 5/42) or without (10.3%, N = 4/39) NNJ did not shown significant statistical difference (p = 0.611). CONCLUSION: Wide variability in residual enzymatic activity was noted in G6PDd individuals with the same G6PD genotype. This feature, along with a documented heterogeneous mutational spectrum, makes it difficult to categorize G6PD variants according to current WHO classification and precludes the prediction of complications such as AHA, which can occur even with > 10% of residual enzymatic activity and/or be associated with the common and mild G6PD A-376G/968C and G6PD A-202A/376G haplotypes.

Bioética global, individuación y concretización técnica como aproximaciones a una "supervivencia aceptable" para la humanidad

Propósito/Contexto. Este artículo tiene como propósito establecer una relación de complementariedad entre la propuesta o intuición del bioquímico norteamericano Van Rensselaer Potter en torno a la Bioética Global y la teoría de la individuación del filósofo francés Gilbert Simondon, con el fin de entender el papel de los objetos técnicos en la individuación humana. Metodología/Enfoque. El enfoque parte de las "categorías" de concretización y de juicio técnico como puntos clave para mostrar que el proceso de concretización técnica es fundamental para el desarrollo de la intuición bioética potteriana. Es decir, la relación entre la intuición bioética y la teoría de la individuación nos puede posibilitar una nueva relación con la cultura técnica y con la cultura natural de cara a la "supervivencia aceptable" de la especie humana en el planeta. Resultados/Hallazgos. La concretización técnica y el juicio técnico permiten la comprensión de los sistemas a partir de su dinamismo interno y no desde categorías externas, de modo que el juicio técnico no juzga ni valora un sistema, sino que lo organiza para evitar su obsolescencia o, en palabras de V.R. Potter, da lugar a nuevas formas de relacionarnos con los sistemas bióticos y abióticos. Discusión/Conclusiones/Contribuciones. La contribución principal del artículo es destacar la relevancia de una adecuada relación con la técnica y el modo como esta contribuye a nuestra individuación y supervivencia.

Purpose/Context. This article aims to establish a complementary relationship between American biochemist Van Rensselaer Potter's global bioethics proposal or intuition and French philosopher Gilbert Simondon's theory of individuation to understand the role of technical objects in human individuation. Methods/Approach. The approach starts from the "categories" of concretization and technical judgment as critical points to show that the process of technical concretization is fundamental for the development of Potter's bioethical intuition. In other words, the relationship between bioethical intuition and the theory of individuation enables a new relationship with technical culture and natural culture vis-á-vis the "acceptable survival" of the human species on the planet. Results/Findings. Technical concretization and technical judgment allow understanding systems from their internal dynamism and not from external categories; therefore, the technical judgment does not judge or assess a system, but organizes it to avoid its obsolescence or, in Potter's words, gives rise to new ways of relating to biotic and abiotic systems. Discussion/Conclusions/Contributions. The article highlights the relevance of a good relationship with technique and its contribution to our individuation and survival.

Objetivo/Contexto. Este artigo tem como propósito estabelecer uma relação de complementaridade entre a proposta ou intuição do bioquímico norte-americano Van Rensselaer Potter em torno da Bioética Global e a teoria da individuação do filósofo francés Gilbert Simondon, a fim de compreender o papel dos objetos técnicos na individualização humana. Metodologia/Abordagem. O enfoque parte das "categorias" de concretização e de juízo técnico como pontos-chave para mostrar que o processo de concretização técnica é fundamental para o desenvolvimento da intuição bioética potteriana. Ou seja, a relação entre a intuição bioética e a teoria da individuação pode possibilitar-nos uma nova relação com a cultura técnica e com a cultura natural de face á "sobrevivéncia aceitável" da espécie humana no planeta. Resultados/Descobertas. A concretização técnica e o juízo técnico permitem a compreensáo dos sistemas a partir do seu dinamismo interno e náo a partir de categorias externas, de modo que o juízo técnico náo julga nem valoriza um sistema, mas organiza-o para evitar a sua obsolescencia ou, nas palavras de V.R. Potter, dá lugar para novas formas de nos relacionarmos com os sistemas bióticos e abióticos. Discussão/Conclusões/Contribuições. A contribuição principal do artigo é destacar a relevancia de uma adequada relação com a técnica e o modo como esta contribui para a nossa individuação e sobrevivéncia.

Hiperbilirrubinemias hereditarias: un diagnóstico diferencial a considerar en ictericia / Hereditary hiperbilirrubinemias: a differential diagnosis to considerer in icterus

Las hiperbilirrubinemias hereditarias (HBH) son patologías originadas por defectos en las enzimas y proteínas que participan del metabolismo de la bilirrubina. El clearence de bilirrubina incluye captación y almacenamiento en hepatocitos, conjugación, excreción hacia la bilis y recaptura de su forma conjugada por hepatocitos. Las HBH varían de acuerdo a su patogenia, presentación clínica, niveles de bilirrubinemia y tratamientos disponibles. En general son poco frecuentes, a excepción del Síndrome de Gilbert. Están las que son de predominio indirecto, como el Síndrome de Gilbert y el de Crigler-Najjar, y las de predominio directo, como el Síndrome de Dubin-Johnson y el de Rotor. En general no requieren tratamiento específico y tienen curso benigno, a excepción del Síndrome de Crigler-Najjar para el cual existen medidas terapéuticas específicas a considerar, teniendo un pronóstico reservado para algunas de sus formas de presentación. Es importante el conocimiento de estos síndromes dado el alto índice de sospecha requerido para su diagnóstico y para su diferenciación de otras patologías hepatobiliares de mayor riesgo y severidad.

Hereditary hiperbilirrubinemias (HBH) are pathologies originated from the defect of the enzymes and proteins involved in the metabolism of bilirubin. The bilirubin clearance includes uptake and storage in hepatocytes, conjugation, excretion into bile and recapture of its conjugated form by hepatocytes. HBH vary according to their pathogenesis, clinical presentation, levels of bilirubin and available treatments. Generally they are infrequent, except for Gilbert Syndrome. There are those with indirect bilirubin predominance, such as Gilbert and Crigler-Najjar syndromes, and those with direct bilirubin predominance, including Dubin-Johnson and Rotor syndromes. In general, they do not require specific treatment and have a benign course, with the exception of the Crigler-Najjar Syndrome, for which there are specific therapeutic measures to consider, as well as a reserved prognosis for some of their forms of presentation. The knowledge of these syndromes is important 2 given the high index of suspicion required for its diagnosis and for its differentiation from other hepatobiliary pathologies of greater risk and severity.

Ultrastructural morphology and phylogeny of Henneguya gilbert n. sp. (Myxozoa) infecting the teleostean Cyphocharax gilbert (Characiformes: Curimatidae) from Brazil.

This paper describes light and ultrastructural observations and molecular analysis of a fish-infecting myxosporean, Henneguya gilbert n. sp., which was found infecting the gill epithelium of the commercially important freshwater teleost fish Cyphocharax gilbert (Curimatidae) collected in the estuarine region of Guandu River, Rio de Janeiro State, Brazil. The parasite occurs in the gills, forming whitish spherical to ellipsoidal polysporic cysts measuring up to ~ 750 µm, and displaying asynchronous development. Mature myxospores are ellipsoidal with a bifurcated caudal process. The length, width and thickness of the body of the myxospore are 12.0 × 5.3 × 3.6 µm, respectively; two equal caudal processes are 16.8 µm long, and the total length of the myxospore is 27.2 µm. There are two unequal polar capsules: the larger measures 5.5 µm length × 1.3 µm width and has a polar filament with 9-10 coils; the smaller is 4.0 µm long × 1.3 µm wide and has a polar filament with 7-8 coils. The sporoplasm is binucleated and presents a spherical vacuole surrounded by numerous globular sporoplasmosomes. Phylogenetic analysis, based on the small subunit rRNA sequencing, using maximum likelihood method reveals the parasite clustering together with other myxobolids that are histozoic and parasitize freshwater fish of the order Characiformes, thereby strengthening the contention that the host phylogenetic relationships and aquatic environment are the strongest evolutionary signals for myxosporeans of the family Myxobolidae.

Síndrome Lucey-Driscoll - Reporte de caso / Lucey-Driscoll Syndrome - Case Report

La hiperbilirrubinemia no conjugada es una condición producida por una alteración en el proceso de conjugación y excreción de la bilirrubina. La glucoronosiltransferasa uridin difosfato es la responsable en la conjugación de la bilirrubina, es codificada por el gen de UGT1A1 localizado en el brazo q del cromosoma 2 locus 37.1. La variación genética del UGT1A1 puede producir diferentes fenotipos desde el más severo llamado Sindrome Crigler-Najjar Tipo I y II, pasando por el Sindrome de Gilbert; hasta una hiperbilirrubinemia transitoria neonatal o síndrome LUCEY-DRISCOLL (HBLRTFN) fenotipo OMIM 237900 con producción de kernicterus y parálisis cerebral pero con resolución espontánea, todos ellos de herencia autosómica recesiva causada por mutación homocigota o heterocigota en el gen UGT1A1. En este reporte se presenta un caso en un recién nacido que a los 7 días presenta hiperbilirrubinemia severa con kernicterus, y la prueba genética muestra mutación heterocigota del *28 del gen UGT1A1

Unconjugated hyperbilirubinemia is produced by alteration in conjugation and excretion process of bilirubin. Glucoronosiltransferasa Uridine diphosphate enzyme is involved in bilirubin conjugation. Is encoded by the UGT1A1 gene located in chromosome 2q locus 37.1. UGT1A1 genetic variation can produce different phenotypes Crigler-Najjar Syndrome Type I and II, Gilbert Syndrome, and hyperbilirubinemia transited familial LUCEY-DRISCOLL (HBLRTFN) syndrome with kernicterus production but with spontaneous resolution, all autosomal recessive. We present here a case of newborn 7 days old with severe hyperbilirubinemia , kernicterus, and genetic testing shows heterozygous mutation of the UGT1A1 * 28 gene

Emoções: fundamentos conceituais dosfenômenos psicológicos / Emotions: conceptual foundations of psychological phenomena / Emociones: fundamentos conceptuales de los fenómenos psicológicos

Este estudo tem por objetivo apresentar a análise de Gilbert Ryle (1949/2009)do funcionamento lógico dos conceitos relacionados à emoção, incluindo sentimentos, inclinações, agitações e estados de ânimo. Ryle não propõe uma nova teoria das emoções, e sim uma análise de como os conceitos funcionam em seu “lar original”. Por meio desta leitura guiada da análise de Ryle, busca-se oferecer um exemplo concreto e desfazer confusões frequentes sobre o papel desse tipo de elucidação conceitual, mostrando que ela é condição prévia para o estabelecimento das condições de sentido de perguntas empíricas. Antes de fazer parte de teorias psicológicas, os conceitos de emoção nascem e se transformam nos contextos das interações cotidianas, dos quais é inseparável o entendimento das regras lógicas para seu uso. Quando nos esquecemos disso, há o risco de formular revisões conceituais inadvertidas que levam a confusões na teorização e a perguntas de pesquisa que não podem, logicamente, ser respondidas empiricamente.(AU)

We present Gilbert Ryle’s analysis (1949/2009) of the logical operation of concepts related to emotions, including feelings, inclinations, agitations and moods. Ryle does not propose a new theory of emotions, but an analysis of how these concepts work in their “original home”, which is ordinary language. Through this guided reading of Ryle analysis, we seek to offer a concrete example and undo frequent confusion about the role of this kind of conceptual clarification, by showing that it is a prerequisite for establishing the conditions of sense of empirical questions. Before becoming part of psychological theories, emotion concepts are born and transformed in the contexts of human interaction which establish criteria for their use. When we forget this, we risk inadvertently revising concepts which may lead to confusion in theorizing and research questions that cannot logically be answered empirically.(AU)

Se presenta el análisis de Gilbert Ryle (1949/2009) de la operación lógica de los conceptos relacionados con las emociones , incluyendo sentimientos, inclinaciones , agitaciones y estados de ánimo. Ryle no propone una nueva teoría de las emociones , pero un análisis de cómo funcionan estos conceptos en su “lugar de origen” , que es el lenguaje ordinario. A través de esta lectura guiada de análisis de Ryle, buscamos ofrecer un ejemplo concreto y deshacer frecuente confusión sobre el papel de este tipo de clarificación conceptual, demostrando que se trata de un requisito previo para el establecimiento de las condiciones de sentido de cuestiones empíricas. Antes de convertirse en parte de las teorías psicológicas, conceptos de emoción nacen y se transforman en los contextos de interacción humana, los cuales establecen criterios para su uso. Cuando nos olvidamos de esto, corremos el riesgo de adoptar cambios conceptuales inadvertidos, lo que puede dar lugar a confusiones en la teorización y a preguntas de investigación que no pueden lógicamente ser solucionadas de forma empírica.(AU)

Anestesia en un paciente con Síndrome de Gilbert: a propósito de un casoANESTESIA EN UN PACIENTE CON SÍNDROME DE GILBERT: A PROPÓSITO DE UN CASO / Anesthesia in a patient with Gilbert's syndrome: a case report

El síndrome de Gilbert es una enfermedad benigna y hereditaria causada por la deficiencia relativa de la enzima glucuronil transferasa que es la causa más común de hiperbilirrubinemia congénita y que manifiesta clínicamente con ictericia, que puede aparecer antes, durante o después de la anestesia. Presentamos el manejo anestésico del caso de un paciente joven con síndrome de Gilbert que fue intervenido de amigdalectomía bajo anestesia general. Los fármacos y medicamentos anestésicos que utilizan esta enzima para su metabolismo o excreción deben ser evitados para minimizar el estrés hepático durante el período perioperatorio y permitir una conducción segura de la anestesia y evitar la icteria en estos pacientes.

Gilbert syndrome is a benign and hereditary disease caused by the relative deficiency of the enzyme glucuronyl transferase which is the most common cause of congenital hyperbilirubinemia and which manifests clinically with jaundice, which may appear before, during or after anesthesia. We present the anesthetic management of the case of a young patient with Gilbert's syndrome who underwent laparoscopic cholecystectomy under general anesthesia. Anesthetic drugs and drugs that use this enzyme for its metabolism or excretion should be avoided to minimize hepatic stress during the perioperative period and allow safe conduction of anesthesia and avoid jaundice in these patients.

Pyrimidine-5'-nucleotidase Campinas, a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5'-nucleotidase type I deficiency and influence of Gilbert's Syndrome on clinical expression.

Pyrimidine-5'-nucleotidase type I (P5'NI) deficiency is an autosomal recessive condition that causes nonspherocytic hemolytic anemia, characterized by marked basophilic stippling and pyrimidine nucleotide accumulation in erythrocytes. We herein present two African descendant patients, father and daughter, with P5'N deficiency, both born from first cousins. Investigation of the promoter polymorphism of the uridine diphospho glucuronosyl transferase 1A (UGT1A) gene revealed that the father was homozygous for the allele (TA7) and the daughter heterozygous (TA6/TA7). P5'NI gene (NT5C3) gene sequencing revealed a further change in homozygosity at amino acid position 56 (p.R56G), located in a highly conserved region. Both patients developed gallstones; however the father, who had undergone surgery for the removal of stones, had extremely severe intrahepatic cholestasis and, liver biopsy revealed fibrosis and siderosis grade III, leading us to believe that the homozygosity of the UGT1A polymorphism was responsible for the more severe clinical features in the father. Moreover, our results show how the clinical expression of hemolytic anemia is influenced by epistatic factors and we describe a new mutation in the P5'N gene associated with enzyme deficiency, iron overload, and severe gallstone formation. To our knowledge, this is the first description of P5'N deficiency in South Americans.

La bioética y el pensamiento sistémico. El diagrama de la vida desde las perspectivas de Gilbert Simondon y Gilles Deleuze

El presente artículo reflexiona en torno a la idea de vida (Bios) conforme a constituciones de carácter o comportamiento (Ethos) hasta determinar escenarios de actividad vital (entornos) que garantizan la expansión a las construcciones simbólicas desde las que nos reconocemos como humanos. Nuestro marco de acción será, pues, una evaluación de contextos de carácter filosófico-científico en los que la preocupación bioética es latente, siguiendo las dinámicas reveladoras del pensamiento sistémico que ha ido estableciéndose en la academia desde hace más de 50 años, haciendo frente a los modelos mecanicistas que sobreviven a gran escala, gracias a los intereses tecno-económicos de la actualidad. El modelo sistémico nos será útil para revisar la idea de lo vivo (Bios) en consonancia con el carácter de apropiación del entorno según un perímetro de acción que define a un tiempo el comportamiento (ethos) y el territorio (topos/oikos), con lo cual puede definirse el ecosistema. Para ello recorreremos las tesis sobre la individuación, de Gilbert Simondon, y sobre el agenciamiento de Gilles Deleuze.

This article reflects about the idea of life (Bios) according to character or behavior constitutions (Ethos) determining vital activity scenarios (environments) that guarantee the expansion of the symbolic contstructions from which we recognize ourselves as humans. Our action framework will be, then, an evaluation of phylosofical-scientific contexts in which the bioethical concern is latent, following the dynamics that reveal the systemic thinking that has been being established in the academic scenarios for more than 50 years, facing the mechanist models that survive at a big scale thanks to the current techno-economic interests. The systemic model will be useful to revise the idea of the living (Bios) in consonance with the character of environment appropriation according to an action perimeter that defines, simultaneously, the behavior (ethos) and the territory (topos/oikos) with which the eciosystem can be defined. For this exercise, we will travel throughout the theses about individuation, by Gilbert Simondon, and about agencement, by Gilles Deleuze.

O presente artigo reflexiona em torno da ideia de vida (Bios) conforme a constituições de caráter ou comportamento (Ethos) até determinar palcos de atividade vital (entorno) que garantem a expansão às construções simbólicas desde as que nos reconhecemos como humanos. Nosso marco de ação será, pois, uma avaliação de contextos de caráter filosófico-cientista nos que a preocupação bioética é latente, seguindo as dinâmicas reveladoras do pensamento sistémico que foi estabelecendo-se na academia desde faz mais de 50 anos, defrontando aos modelos mecanicistas que sobrevivem a grande escala, graças aos interesses tecno-econômicos da atualidade. O modelo sistémico nos será útil para revisar a ideia do vivo (Bios) em consonância com o caráter de apropriação do meio segundo um perímetro de ação que define a um tempo o comporta-mento (ethos) e o território (topos/oikos), com o qual pode definir-se o ecossistema. Para isso percorreremos as teses sobre a individuação, de Gilbert Simondon, e sobre o agenciamento de Gilles Deleuze.

La bioética: sus principios y propósitos, para un mundo tecnocientífico, multicultural y diverso / Bioethics: its principles and purposes, for a techno-scientific, multicultural and diverse world / Bioética: seus princípios e propósitos, para um mundo tecno-científico, multicultural e diversificado

Este artículo hace una reflexión sobre la investigación ¿Qué es la bioética?1, de Gilbert Hottois2. Destaca su propuesta de bioética y su tesis central: la bioética, a diferencia de la ética, explica la vida en sociedades tecnológicas y multiculturales complejas caracterizadas por ser individualistas, pluralistas e integradas por grupos con los más diversos intereses. A partir de esa tesis de Hottois, y con fundamento en los recursos de la filosofía moral utilizados por la bioética, este artículo de reflexión hace énfasis en cuatro aspectos: 1. El principialismo, recurso contemporáneo cargado de orientaciones, para la toma de decisiones, 2. La ética kantiana, con sus imperativos categóricos que fundamentan el respeto de la dignidad humana al considerar al ser como un fin en sí mismo. 3. Los derechos humanos, como imperativo legal y moral para la supervivencia y 4. Los propósitos de la bioética.

This article reflects on the research: What is Bioethics? By Gilbert Hottois. Emphasizes his bioethical proposal and his central thesis: Bioethics, unlike Ethics, explains life in complex, multicultural and technological societies, characterized for being individualistic, pluralistic and integrated by groups with the more diverse interests. From this Hottois thesis, and based on the resources of moral philosophy used by the Bioethics, this reflection article emphasizes in four aspects: 1. The Principialism, contemporary resource loaded with guiding principles of decisions. 2. Kantian ethics, with its categorical imperatives which are the foundation of respect for human dignity, considering the being as an end in itself. 3. The Human Rights, legal and moral imperative for survival and 4.The purpose of bioethics.

Este artigo faz uma reflexão sobre a pesquisa ‘O que é bioética?’, escrita pelo belga Hottois Gilbert. Destaca sua proposta de bioética e sua tese central: a bioética, ao contrário da ética, explica a vida em sociedades tecnológicas e multiculturais complexas caraterizadas por ser individualistas, pluralistas e integradas por grupos com os mais diversos interesses. A partir desta tese do Hottois, e com base nos recursos da filosofía moral utilizados pela bioética, este artigo de reflexão enfatiza quatro aspectos: 1. O principialismo, recurso contemporâneo carregado de diretrizes para a tomada de decisões. 2. A ética kantiana, com seus imperativos categóricos que fundamentam o respeito pela dignidade humana ao considerar o ser como um fim em si mesmo. 3. Os direitos humanos como um imperativo legal e moral para a sobrevivência e 4. Os objetivos da bioética.

Prevalencia de síndrome de Gilbert y sus determinantes genéticas en población chilena / Prevalence of Gilbert syndrome and its genetic determinants in Chile

Background: In Europeans the TATA box TA7 repeat promoter variant in the UGT1A1 gene (UGT1A1*28) is the major determinant of bilirubin levels. Aim: To study the prevalence of Gilbert Syndrome (GS) and its genetic determinants in Chile. Material and Methods: Three different studies were conducted. The prevalence of GS in Chile was assessed in 991 subjects with normal liver tests (ALT and GGT) from the 2nd National Health Survey. We defined GS as a total bilirubin (TB) between 1.4-5mg/dL. The second study assessed the genotype prevalence of SNP rs6742078 (in LD with UGT1A1*28) and rs4149056 in 500 DNA samples of non-related Hispanics. Finally, a case-control study was designed to assess the phenotype-genotype correlation. UGT1A1*28 and rs4149056 variants were determined by direct sequencing and allelic discrimination assays (TaqMan), respectively. Results: Prevalence of GS in the general Chilean population was 2.6% (4.5% in males and 0.5% in female). No correlation with age, educational level or home location was found. Genotypes for UGT1A1*28 (TA6/6 50.5%, TA6/7 37.8%, TA7/7 11.7%) and rs4149056 (TT 74.1%, CT 22.8%, and CC 3.1%) variants were similar to Europeans. In the case-control study, most patients with GS were homozygotes for UGT1A1*28 (TA7/7, 74%). Of note, 44% of patients with intermediate TB levels were also TA7/7, compared to 7% in normal subjects. SLCO1B1 genotype was not correlated with TB levels. Conclusions: While the prevalence of GS was lower in Chile compared to Europeans (~5%), the prevalence of UGT1A1*28 homozygotes was similar (~12%). In Chilean Hispanics, the UGT1A1*28 variant explain 75% of GS phenotype.

Pruebas de laboratorio en el síndrome de Gilbert consecutivo a hepatitis / Laboratory tests in Gilbert's syndrome subsequent to hepatitis

Se efectuó un estudio descriptivo y transversal de 40 pacientes con síndrome de Gilbert consecutivo a hepatitis viral aguda, admitidos en el Servicio de Medicina Interna del Hospital Provincial Docente Clinicoquirúrgico Saturnino Lora Torres de Santiago de Cuba o en la consulta especializada de Hepatología del Policlínico de Especialidades de esta institución, desde junio del 2011 hasta igual mes del 2012, a fin de determinar las características clínico humorales y la respuesta al tratamiento médico en estos. En la casuística se evaluaron las medias, medianas y desviaciones estándares, y entre los resultados se observaron una mayor representación de los hombres menores de 36 años (90,0 por ciento del total), así como un predominio de las manifestaciones de somnolencia, seguida de la astenia, ictericia leve y ausencia de síntomas; asimismo, se confirmó la elevación de la bilirrubina indirecta y su posterior disminución al aplicar la terapia con un inductor enzimático, en este caso el fenobarbital, con el cual se obtuvo, finalmente, mejoría clínica y humoral de los afectados

A descriptive and cross-sectional study was carried out in 40 patients with Gilbert's syndrome subsequent to viral hepatitis, admitted to the Internal Medicine Department of Saturnino Lora Torres Provincial Clinical Surgical Teaching Hospital of Santiago de Cuba or to the specialized hepatology service of the Polyclinic of Specialties in this institution, from June 2011 to the same month of 2012, to determine the clinical and humoral characteristics and the response to medical treatment in them. Means, medians and standard deviations were evaluated in the case material, and among the results was a greater representation of males younger than 36 years (90.0 percent of the total), and a prevalence of manifestations of drowsiness, followed by sleepiness, mild jaundice and absence of symptoms was observed. Also, the elevation of indirect bilirrubin and its subsequent reduction when applying therapy with an enzyme inducer, phenobarbital in this case, were confirmed, eventually obtaining clinical and humoral improvement of patients

Síntese e metabolismo da bilirrubina e fisiopatologia da hiperbilirrubinemia associados à Síndrome de Gilbert: revisão de literatura / Bilirubin synthesis and metabolism, and hyperbilirubinemia associated with Gilbert’s Syndrome: A review of the literature

A icterícia é sinal clínico comum a várias condições patológicas, podendo ser evidenciada em vários locais do organismo devido à grande capacidade de impregnação do pigmento biliar. A icterícia torna-se evidente quando a concentração plasmática encontra-se acima de 2,5 a 3,0 mg/dL. O presente trabalho retrata o metabolismo fisiológico dos pigmentos biliares concomitantemente com a síntese e metabolismo de bilirrubina, assim como processos fisiopatológicos causados pelo aumento da bilirrubina plasmática (hiperbilirrubinemia), como ocorre na síndrome de Gilbert, caracterizada pela deficiência enzimática, que se manifesta clinicamente como icterícia. Compreender os passos da formação e excreção da bilirrubina é fundamental para a compreensão das manifestações clínicas e que ocorrem na icterícia, facilitando o entendimento dos mecanismos fisiopatológicos da hiperbilirrubinemia, como ocorrem na síndrome de Gilbert.

Jaundice is a common clinical manifestation of several pathological conditions. It can be found in several parts of the body because of the high impregnation capacity of the bile pigment. Jaundice is evident when plasmatic concentration is higher than 2.5 ? 3.0 mg/dL. This paper describes the physiological metabolism of bile pigments concomitantly with bilirubin synthesis and metabolism, as well as the pathophysiological processes derived from increased plasmatic bilirubin (hyperbilirubinemia). This is a circumstance typical of the Gilbert?s syndrome, which causes enzymatic deficiency that is clinically manifested as jaundice. Knowledge of the steps of bilirubin formation and excretion is crucial to shed light into the clinical manifestations of jaundice and thus gain more understanding of the physiological mechanisms of hyperbilirubinema associated with Gilbert?s syndrome.