RESUMO
Hydrogen sulfide (H2S) is a gasotransmitter implied in metabolic diseases, insulin resistance, obesity, and type 2 Diabetes Mellitus. This study aimed to determine the effect of chronic administration of sodium hydrosulfide (NaHS; inorganic H2S donor), L-Cysteine (L-Cys; substrate of H2S producing enzymes) and DL-Propargylglycine (DL-PAG; cystathionine-gamma-lyase inhibitor) on the vascular dysfunction induced by insulin resistance in rat thoracic aorta. For this purpose, 72 animals were divided into two main sets that received: 1) tap water (control group; n = 12); and 2) fructose 15% w/v in drinking water [insulin resistance group (IR); n = 60] for 20 weeks. After 16 weeks, the group 2 was divided into five subgroups (n = 12 each), which received daily i. p. injections during 4 weeks of: 1) non-treatment (control); 2) vehicle (phosphate buffer saline; PBS, 1 ml/kg); 3) NaHS (5.6 mg/kg); 4) L-Cys (300 mg/kg); and (5) DL-PAG (10 mg/kg). Hemodynamic variables, metabolic variables, vascular function, ROS levels and the expression of p-eNOS and eNOS were determined. IR induced: 1) hyperinsulinemia; 2) increased HOMA-index; 3) decreased Matsuda index; 4) hypertension, vascular dysfunction, increased ROS levels; 5) increased iNOS, and 6) decreased CSE, p-eNOS and eNOS expression. Furthermore, IR did not affect contractile responses to norepinephrine. Interestingly, NaHS and L-Cys treatment, reversed IR-induced impairments and DL-PAG treatment decreased and increased the HOMA and Matsuda index, respectively. Taken together, these results suggest that NaHS and L-Cys decrease the metabolic and vascular alterations induced by insulin resistance by reducing oxidative stress and activating eNOS. Thus, hydrogen sulfide may have a therapeutic application.
Assuntos
Diabetes Mellitus Tipo 2 , Sulfeto de Hidrogênio , Hipertensão , Resistência à Insulina , Animais , Ratos , Cistationina gama-Liase/antagonistas & inibidores , Cistationina gama-Liase/metabolismo , Cisteína/farmacologia , Cisteína/uso terapêutico , Cisteína/metabolismo , Diabetes Mellitus Tipo 2/complicações , Sulfeto de Hidrogênio/farmacologia , Sulfeto de Hidrogênio/uso terapêutico , Sulfeto de Hidrogênio/metabolismo , Hipertensão/tratamento farmacológico , Hipertensão/metabolismo , Resistência à Insulina/fisiologia , Óxido Nítrico Sintase Tipo III/metabolismo , Estresse Oxidativo/efeitos dos fármacos , Espécies Reativas de OxigênioRESUMO
INTRODUCTION AND IMPORTANCE: Portal biliopathy (PB) is an abnormality of the biliary tree wall due to extrahepatic portal hypertension. Among the complications of portal biliopathy are digestive bleeding, jaundice, and cholangitis. Surgical treatment is an exception when medical management is not possible. CASE PRESENTATION: This is a case series study of four patients with severe PB complications requiring surgical management in our center from 2005 to 2016. Two of them had previous surgical procedures related to portal hypertension. All presented with severe biliary stenosis and recurrent cholangitis, and two also had massive upper gastrointestinal bleeding. Because of endoscopic management failure, a Roux-en-Y hepaticojejunostomy was performed in all cases. Two patients presented morbidity Clavien-Dindo>IIIA, requiring reoperation. During follow-up, no one developed other complications related to PB. DISCUSSION: Surgical treatment for PB complications is a challenge and mainly implies a portosystemic shunt as a first step. When it fails, an alternative is perform a biliodigestive anastomoses, with high risk of bleeding given the prominent collaterals present in the hepatoduodenal pedicle secondary to portal cavernomatosis. CONCLUSION: Our patients after YRGB didn't present new complications due to PB. The surgery could be a definite solution for PB complications. It has only been made for selective cases because it implies high complexity and risk.
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Introducción: es conocida la actividad del aceite esencial de tomillo como promotor de crecimiento en pollos de engorde, pero su aplicación directa en producción se dificulta debido a su inestabilidad asociada a su alta volatilización. Objetivo: desarrollar un microencapsulado que incluya al aceite esencial de tomillo y se evalúe su desempeño en campo. Metodología: la técnica empleada para la microencapsula-ción fue la de secado por aspersión, utilizando como biopolímeros goma arábiga (GA), maltodextrina (M) o almidón de ñame succinatado (AÑS). Se establecieron las condiciones de emulsificación (paso previo a la microencapsulación), así como las condiciones para la obtención de las micropartículas, mediante la aplicación de un diseño estadístico experimental (DEE). Adicionalmente, se caracterizó la morfología, estabilidad, comportamiento de liberación y desempeño en campo de la formulación obtenida bajo las condiciones definidas. Resultados: se seleccionaron las matrices de los biopolímeros GA/M y GA/M/AÑS que conformaron el material de recubrimiento de las micropartículas. La eficiencia de encapsulación fue de 87,5 %, su tamaño de partícula de 74,5 µm, su índice de dispersión de 2,4 y tuvo un rendimiento de 48,5%. El ensayo de estabilidad demostró que la cubierta polimèrica ejerce cierta protección a la pérdida del aceite esencial. Los estudios de liberación evidenciaron la modulación de la liberación del activo. El estudio en campo demostró que el sistema microparticulado presenta un comportamiento estadísticamente similar al producto comercial que sirvió de comparador. Conclusión: este microencapsulado podría ser empleado como promotor de crecimiento en la producción de pollos de engorde.
SUMMARY Introduction: The biological activity of the thyme essential oil is known to work as growth promoter on broilers, but its direct applicability on production is difficult due to its instability associated to its volatilization. Aim: To develop a micro-encapsulated thyme essential oil and its performance in diets for broiler chickens. Methodology: The technique used for the microencapsulation was the spray drying process, using the Gum Arabic (GA), Maltodextrin (M) or Starch Yam succinate (SYS) as biopolymers. The emulsification conditions (previous step to the micro-encapsulation) and the conditions to obtain the microparticles were stablished, through the implementation of a statistical experimental design (SED) The formulation obtained under defined conditions is additionally characterized in terms of morphology, stability, release behavior and field performance. Results: The biopolymer matrixes GA/M and GA/M/SYS were selected for the covering material of the microparticles. The encapsulation efficacy was 87.5 %, its particle size was 74.5 [zm, the dispersity index 2.4 and a yield of 48,5%. The stability test proved that polymeric cover exerts some protection to the loss of the essential oil. The release studies demonstrated the release modulation of the active ingredient. The field study proved that the microparticulate system presents a statistical behavior like the commercial product used as comparator. Conclusion: This approach suggests that this microencapsulation method could be used as a growth promoter in the production of broiler chickens.
Introdução: a atividade do óleo essencial de tomilho como promotor de crescimento em frangos de corte é conhecida, mas sua aplicação direta na produção é difícil devido à sua instabilidade associada à sua alta volatilização. Objetivo: desenvolver um microencapsulado que inclua óleo essencial de tomilho e avaliar seu desempenho em campo. Metodologia: a técnica utilizada para microencapsulação foi a secagem por spray dryer, utilizando como biopolímeros goma arábica (GA), maltodextrina (M) ou amido succinato de inhame (ASI). As condições de emulsificação (etapa anterior à microencapsulação) foram estabelecidas, bem como as condições de obtenção das micropartículas, através da aplicação de um desenho estatístico experimental (DEE). Adicionalmente, foram caracterizados a morfologia, estabilidade, comportamento de liberação e desempenho em campo da formulação obtida nas condições definidas. Resultados: foram selecionadas as matrizes biopoliméricas GA/M e GA/M/AÑS que formaram o material de revestimento das micropartículas. A eficiência de encapsulamento foi de 87,5 %, seu tamanho de partícula foi de 74,5 [zm, seu índice de dispersão foi de 2,4 e teve um rendimento de 48,5%. O teste de estabilidade mostrou que a cobertura polimérica exerce alguma proteção contra a perda de óleo essencial. Os estudos de liberação evidenciaram a modulação da liberação do princípio ativo. O estudo de campo mostrou que o sistema microparticulado apresenta comportamento estatisticamente semelhante ao produto comercial que serviu de comparador. Conclusão: este microencapsulado pode ser utilizado como promotor de crescimento na produção de frangos de corte.
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Mycetoma is a chronic human infectious disease that produces severe deformation frequently in the lower extremities. Etiological agents include fungi (eumycetoma) and bacteria (actinomycetoma) that produce similar clinical and microscopic changes. The clinical appearance includes swelling, abscesses, ulcers, scars and sinuses that drain purulent material with microbe microcolonies. The pathogenesis of actinomycetoma has been studied mainly in rodents. Using this approach, it was found that Nocardia brasiliensis produces proteases that may play a role in tissue damage, as well as immunosuppressive molecules, such as brasilicardin A. Nitric oxide (NO) is a molecule with biological activities depending on its local concentration. Its effect on killing intracellular bacteria such as Mycobacterium tuberculosis has been known for decades. NO plays an important role in innate and adaptive immunity. It can promote or suppress some biological activities despite its short half-ife. NO is produced by three different nitric oxide synthases (NOS). We used the genetic blockade of eNOS in C57BL/6 mice to demonstrate the role of NO in actinomycetoma development. Inflammation and actinomycetoma were prevented in genetically modified mice infected with N. brasiliensis. T cell proliferation was increased in these rodents, and antibody production, IL-6 and IL-10 expression were similar and TNF-α was lower.
Assuntos
Micetoma/imunologia , Óxido Nítrico Sintase Tipo III/genética , Óxido Nítrico/imunologia , Nocardia , Animais , Citocinas/imunologia , Feminino , Ativação Linfocitária , Camundongos Endogâmicos C57BL , Camundongos Knockout , Micetoma/microbiologia , Linfócitos T/imunologiaRESUMO
Vasculobiliary injuries (VBI) caused by cholecystectomies are infrequent but extremely serious. We report a case of a severe VBI successfully treated at our center. A 22-year-old woman underwent an open cholecystectomy as treatment for acute cholecystitis and bile duct stones. She was transferred to our center on postoperative Day 4 because of progressive jaundice and encephalopathy. After a proper investigation, we found an extreme VBI with infarction of the right hepatic lobe associated with complete interruption of the portal vein and proper hepatic artery flows and full section of the common hepatic duct. Right hepatectomy with portal-Rex shunt revascularization of the left hepatic lobe and Roux-en-Y hepaticojejunostomy to the left hepatic duct was done. The patient was discharged on the 60th postoperative day. Discussion: This case shows the successful surgical treatment of a severe cholecystectomy's VBI, avoiding an emergency liver transplant.
Assuntos
Antineoplásicos , Tumores do Estroma Gastrointestinal , Neoplasias Hepáticas , Transplante de Fígado , Antineoplásicos/uso terapêutico , Tumores do Estroma Gastrointestinal/tratamento farmacológico , Tumores do Estroma Gastrointestinal/cirurgia , Humanos , Mesilato de Imatinib/uso terapêutico , Neoplasias Hepáticas/tratamento farmacológico , Neoplasias Hepáticas/cirurgia , Doadores VivosRESUMO
INTRODUCTION AND AIM: The Balance of Risk (BAR) Score, a simple scoring system that combines six independent donor and recipient variables to predict outcome after liver transplantation (LT), was validated in a large U.S./European cohort of patients. This study aims to assess the performance of the BAR score to predict survival after liver transplantation and determine the factors associated with short and long-term survival in Latin-American patients. MATERIAL AND METHODS: A retrospective cohort study was performed in 194 patients [112 (55.4%) males; mean age 52±14 years] who underwent 202 LT during the period 2003-2015. Demographic, clinical, pathological and surgical variables, as well as mortality and survival rates, were analyzed. The BAR score was investigated through a receiver operating characteristics (ROC) curve with the calculation of the area under the curve (AUC) to evaluate the predictive score power for 3-month, 1 and 5-year mortality in a matched donor-recipient cohort. Youden index was calculated to identify optimal cutoff points. RESULTS: The AUC of BAR score in predicting 3-month, 1-year and 5-year mortality were 0.755 (CI95% 0.689-0.812), 0.702 (CI95% 0.634-0.764) and 0.610 (CI95% 0.539-0.678) respectively. The best cut-off point was a BAR score ≥15 points. In the multivariate analysis BAR score <15 was associated with higher survival rates at 3 months and 1 and 5-years. CONCLUSIONS: BAR score <15 points is an independent predictor of better short and long-term survival in Latin-American patients undergoing LT. The BAR scoring system has an adequate diagnostic capacity allowing to predict 3 and 12-month mortality.
Assuntos
Técnicas de Apoio para a Decisão , Transplante de Fígado , Adulto , Idoso , Chile , Feminino , Humanos , Transplante de Fígado/efeitos adversos , Transplante de Fígado/mortalidade , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Fatores de Tempo , Resultado do TratamentoRESUMO
RESUMEN En el presente estudio se realizó la validación de una metodología analítica por cromatografía líquida de alta eficiencia con detector de arreglo de diodos (HPLC-DAD) para la cuantificación del ácido benzoico en complejos polielectrolíticos, obtenidos con Eudragit® E100. Para ello se evaluaron las características de desempeño determinando que la metodología es selectiva; lineal en el rango de concentraciones de 2 a 10 fíg/mL; precisa con un RSD inferior a un 2%; exacta con un porcentaje de recuperación de un 98,7% y se establecieron límites de cuantificación (LOQ) de 0,72 y de 1,56 (g/mL para el sistema y método respectivamente. De acuerdo a estos resultados, la metodología analítica es adecuada para evaluar la permeación in vitro, del ácido benzoico incluido en los complejos polielectrolíticos a través de piel porcina, empleando celdas de Franz.
SUMMARY This paper presents the studies carried out about the validation of an analytical methodology by high performance liquid chromatography with diode array detector (HPLC-DAD) for the quantification of benzoic acid in polyelectrolyte complexes obtained with Eudragit® E100. Performance characteristics of the methodology were evaluated, finding that this is selective; linear in the concentration range of 2 to 10 (g / mL; accurate with a RSD of less than 2%, exact with a recovery percentage of 98.7% and quantification limits of 0.72 and 1.56 fig / mL were established for the system and method respectively. According with this results, the analytical methodology is adequate to evaluate the in vitro permeation of benzoic acid, in polyelectrolyte complexes, through porcine skin in Franz cells.
RESUMO
RESUMEN En este artículo se presentan los resultados del desarrollo y validación de una metodología analítica por cromatografía líquida de alta eficiencia con detector de arreglo de diodos (HPLC-DAD) para la cuantificación de cafeína; se utilizó una columna C18 con detección UV a 273 nm y una fase móvil compuesta por agua/acetonitrilo (80:20 v/v) de modo isocrático. Las características de desempeño evaluadas permitieron comprobar que existe una adecuada selectividad, una linealidad entre 0,5 y 50 ug/mL, con una precisión expresada como RSD menor a 2%, un porcentaje de recuperación del 99,9% y unos límites de detección y cuantificación para el método de 2,99 y 2,69 ng/mL, respectivamente. El método propuesto es útil para determinar el perfil de permeación bucal de la cafeína mediante un estudio in vitro con celdas de Franz empleando membrana bucal porcina.
SUMMARY This paper presents the results of the development and validation of an analytical methodology through high performance liquid chromatography with a diode array detector (HPLC-DAD) for the quantification of caffeine, using a C18 reverse phase column with UV detection at 273 nm and a mobile phase consisting exclusively of water/acetonitrile (80:20 v/v). The evaluated performance characteristics allowed to verify that there is an adequate selectivity, a linearity between 0.5 and 50 /µg/mL, with precision expressed as RSD in less than 2%, a recovery rate of 99.9%, and limits of detection and quantification for the method of2.99 and 2.69 ng/mL respectively. The proposed method is useful for determining the oral permeation profile of caffeine by an in vitro study with Franz cells using porcine buccal membrane.
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OBJECTIVE: To generate an immunogenic chimeric protein containing the Entamoeba histolytica LC3 fragment fused to the retrograde delivery domains of exotoxin A of Pseudomonas aeruginosa and KDEL3 for use as an effective vaccine. RESULTS: A codon-optimized synthetic gene encoding the PEΔIII-LC3-KDEL3 fusion construct was designed for expression in Pichia pastoris. This transgene was subcloned into the plasmid pPIC9 for methanol-inducible expression. After transformation and selection of positive-transformed clones by PCR, the expression of the recombinant protein PEΔIII-LC3-KDEL3 was elicited. SDS-PAGE, protein glycosylation staining and western blot assays demonstrated a 67 kDa protein in the medium culture supernatant. The recombinant protein was detected with a polyclonal anti-6X His tag antibody and a polyclonal E. histolytica-specific antibody. A specific antibody response was induced in hamsters after immunization with this protein. CONCLUSIONS: We report for the first time the design and expression of the recombinant E. histolytica LC3 protein fused to PEΔIII and KDEL3, with potential application as an immunogen.
Assuntos
ADP Ribose Transferases/genética , Toxinas Bacterianas/genética , Entamoeba histolytica/genética , Exotoxinas/genética , Proteínas Recombinantes de Fusão/genética , Vacinas , Fatores de Virulência/genética , ADP Ribose Transferases/imunologia , Animais , Toxinas Bacterianas/imunologia , Entamoeba histolytica/imunologia , Exotoxinas/imunologia , Pichia/genética , Proteínas Recombinantes de Fusão/imunologia , Fatores de Virulência/imunologia , Exotoxina A de Pseudomonas aeruginosaRESUMO
Due to the emergence of multi-drug resistant strains, development of novel antibiotics has become a critical issue. One promising approach is the use of transition metals, since they exhibit rapid and significant toxicity, at low concentrations, in prokaryotic cells. Nevertheless, one main drawback of transition metals is their toxicity in eukaryotic cells. Here, we show that the barriers to use them as therapeutic agents could be mitigated by combining them with silver. We demonstrate that synergism of combinatorial treatments (Silver/transition metals, including Zn, Co, Cd, Ni, and Cu) increases up to 8-fold their antimicrobial effect, when compared to their individual effects, against E. coli and B. subtilis. We find that most combinatorial treatments exhibit synergistic antimicrobial effects at low/non-toxic concentrations to human keratinocyte cells, blast and melanoma rat cell lines. Moreover, we show that silver/(Cu, Ni, and Zn) increase prokaryotic cell permeability at sub-inhibitory concentrations, demonstrating this to be a possible mechanism of the synergistic behavior. Together, these results suggest that these combinatorial treatments will play an important role in the future development of antimicrobial agents and treatments against infections. In specific, the cytotoxicity experiments show that the combinations have great potential in the treatment of topical infections.
Assuntos
Anti-Infecciosos/toxicidade , Metais Pesados/toxicidade , Elementos de Transição/toxicidade , Animais , Anti-Infecciosos/farmacologia , Bacillus subtilis/efeitos dos fármacos , Linhagem Celular , Linhagem Celular Tumoral , Sinergismo Farmacológico , Escherichia coli/efeitos dos fármacos , Humanos , Queratinócitos/efeitos dos fármacos , Melanócitos/efeitos dos fármacos , Metais Pesados/farmacologia , Camundongos , Mioblastos/efeitos dos fármacos , Ratos , Elementos de Transição/farmacologiaRESUMO
La (±)-3,4-metilendioxipirovalerona (MDPV) y la (±)-3,4-metilenedioximetilcatinona (metilona) son algunos de los derivados sintéticos de catinonas más frecuentemente encontrados en productos que se comercializan como "sales de baño", los cuales hoy en día se emplean como drogas de abuso. Los reportes de casos fatales por consumo de estas sustancias aumentan cada día, y aunque existen algunos estudios farmacológicos y toxicológicos, no son claros los mecanismos de acción y los efectos causados por su consumo recreativo. La implementación de sistemas que permitan conocer el metabolismo de estas drogas en humanos y el diseño de métodos analíticos para su detección son ahora objeto de investigación. Este artículo presenta una revisión bibliográfica acerca de los estudios de biotransformación para MDPV y metilona empleando modelos in vitro con microsomas hepáticos humanos, fracciones celulares S9 y modelos in vivo con animales de experimentación, así como un posterior análisis de los metabolitos que hay hasta la fecha. Las técnicas analíticas utilizadas para el análisis de metabolitos incluyen cromatografía líquida acoplada a detector selectivo de masas (LC-MS o LC-MS/MS), o la formación de derivados acetilados o sililados para su posterior análisis por cromatografía de gases acoplada a detector selectivo de masas (GC-MS). Además, se incluye una propuesta para el estudio del metabolismo para metilona y MDPV a través de hongos del género Cunninghamella.
(±)-3,4-methylenedioxypyrovalerone (MDPV) and 3,4-methylendioxymethylcathi-none (methylone) are some of the most frequent synthetic derivatives of cathinones found in commercial products known as "Bath salts" and which today are used as drugs of abuse. Reports on fatal cases involving the consumption of these substances are raising and although there are some pharmacological and toxicological studies, their action mechanisms and effects due recreational consumption are not very well understood. The implementation of systems that allows the understanding of the metabolism of these drugs in humans and the design of analytical methods for their detection is now the subject of research. This paper shows a bibliographical review of the studies conducted on the biotransformation of methylone and MDPV using in vitro models with human hepatic microsomes, cell fractions S9 and in vivo models in animals with posterior analysis of the obtained metabolites. The analytical techniques used for the analysis of the metabolites include liquid chromatography coupled with mass spectrometry (LC-MS or LC-MS/MS) or the formation of acetylated or dimethyl silylated derivatives for their posterior analysis by gas chromatography (GC-MS). A proposal for the study of the metabolisms of methylone and MDPV through the fungus of the genera Cunninghamella is also included.
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The combination of Turner syndrome with other genetic disorders such as congenital cataract has been reported, but its association with a congenital form with autosomal dominant inheritance and incomplete penetrance has not been previously reported in the literature. There are no reports on its presentations with rearrangements on chromosome 17. We report the exceptional case of a 20 months old girl with a constellation of major and minor anomalies, diagnosed with mosaic Turner syndrome by isochromosome Xq associated with a microduplication 17p13.3p13.2, who also had bilateral congenital nuclear cataract autosomal dominant with incomplete penetrance. We reviewed in the literature the origin and cause of these genetic alterations and we provided an approach to the hypothesis of the pathogenesis of the association of two of these genetic disorders in the same patient.
Assuntos
Catarata/congênito , Catarata/genética , Síndrome de Turner/genética , Catarata/complicações , Duplicação Cromossômica , Feminino , Humanos , Lactente , Isocromossomos/genética , Cariótipo , Linhagem , Fenótipo , Síndrome de Turner/complicaçõesRESUMO
La combinación del síndrome de Turner con otros trastornos genéticos, como la catarata congénita, ha sido reportada. Sin embargo, su asociación con una forma de catarata nuclear congénita con herencia autosómica dominante y penetrancia incompleta no ha sido reportada previamente en la literatura. Tampoco existen reportes de su presentación junto con rearreglos en el cromosoma 17. A continuación, presentamos el excepcional caso de una paciente con una constelación de anomalías mayores y menores, diagnosticada con síndrome de Turner en mosaico por isocromosoma Xq, asociado a una microduplicación 17p13.3p13.2, quien además presenta catarata nuclear congénita bilateral de herencia autosómica dominante con penetrancia incompleta. Se realiza una revisión acerca del origen y la causa de estas alteraciones genéticas y una aproximación a la hipótesis de la patogénesis de la asociación de dos de estos trastornos genéticos en una misma paciente.(AU)
The combination of Turner syndrome with other genetic disorders such as congenital cataract has been reported, but its association with a congenital form with autosomal dominant inheritance and incomplete penetrance has not been previously reported in the literature. There are no reports on its presentations with rearrangements on chromosome 17. We report the exceptional case of a 20 months old girl with a constellation of major and minor anomalies, diagnosed with mosaic Turner syndrome by isochromosome Xq associated with a microduplication 17p13.3p13.2, who also had bilateral congenital nuclear cataract autosomal dominant with incomplete penetrance. We reviewed in the literature the origin and cause of these genetic alterations and we provided an approach to the hypothesis of the pathogenesis of the association of two of these genetic disorders in the same patient.(AU)
RESUMO
La combinación del síndrome de Turner con otros trastornos genéticos, como la catarata congénita, ha sido reportada. Sin embargo, su asociación con una forma de catarata nuclear congénita con herencia autosómica dominante y penetrancia incompleta no ha sido reportada previamente en la literatura. Tampoco existen reportes de su presentación junto con rearreglos en el cromosoma 17. A continuación, presentamos el excepcional caso de una paciente con una constelación de anomalías mayores y menores, diagnosticada con síndrome de Turner en mosaico por isocromosoma Xq, asociado a una microduplicación 17p13.3p13.2, quien además presenta catarata nuclear congénita bilateral de herencia autosómica dominante con penetrancia incompleta. Se realiza una revisión acerca del origen y la causa de estas alteraciones genéticas y una aproximación a la hipótesis de la patogénesis de la asociación de dos de estos trastornos genéticos en una misma paciente.(AU)
The combination of Turner syndrome with other genetic disorders such as congenital cataract has been reported, but its association with a congenital form with autosomal dominant inheritance and incomplete penetrance has not been previously reported in the literature. There are no reports on its presentations with rearrangements on chromosome 17. We report the exceptional case of a 20 months old girl with a constellation of major and minor anomalies, diagnosed with mosaic Turner syndrome by isochromosome Xq associated with a microduplication 17p13.3p13.2, who also had bilateral congenital nuclear cataract autosomal dominant with incomplete penetrance. We reviewed in the literature the origin and cause of these genetic alterations and we provided an approach to the hypothesis of the pathogenesis of the association of two of these genetic disorders in the same patient.(AU)
RESUMO
La combinación del síndrome de Turner con otros trastornos genéticos, como la catarata congénita, ha sido reportada. Sin embargo, su asociación con una forma de catarata nuclear congénita con herencia autosómica dominante y penetrancia incompleta no ha sido reportada previamente en la literatura. Tampoco existen reportes de su presentación junto con rearreglos en el cromosoma 17. A continuación, presentamos el excepcional caso de una paciente con una constelación de anomalías mayores y menores, diagnosticada con síndrome de Turner en mosaico por isocromosoma Xq, asociado a una microduplicación 17p13.3p13.2, quien además presenta catarata nuclear congénita bilateral de herencia autosómica dominante con penetrancia incompleta. Se realiza una revisión acerca del origen y la causa de estas alteraciones genéticas y una aproximación a la hipótesis de la patogénesis de la asociación de dos de estos trastornos genéticos en una misma paciente.
The combination of Turner syndrome with other genetic disorders such as congenital cataract has been reported, but its association with a congenital form with autosomal dominant inheritance and incomplete penetrance has not been previously reported in the literature. There are no reports on its presentations with rearrangements on chromosome 17. We report the exceptional case of a 20 months old girl with a constellation of major and minor anomalies, diagnosed with mosaic Turner syndrome by isochromosome Xq associated with a microduplication 17p13.3p13.2, who also had bilateral congenital nuclear cataract autosomal dominant with incomplete penetrance. We reviewed in the literature the origin and cause of these genetic alterations and we provided an approach to the hypothesis of the pathogenesis of the association of two of these genetic disorders in the same patient.
Assuntos
Feminino , Lactente , Síndrome de Turner , Catarata , Isocromossomos , MosaicismoRESUMO
BACKGROUND: Cryopreservation and global trading of P. vannamei sperm will become a potential and important biotechnological tool. Nevertheless, information of the possible transfer of bacteria in cryopreserved shrimp sperm has not been registered yet. OBJECTIVE: The objective of this work was to determine the type of bacteria that could be cryopreserved together with white shrimp sperm masses. MATERIALS AND METHODS: Sixteen sperm masses were cryopreserved in 10% DMSO and 0.5 M trehalose and sixteen fresh sperm masses were used for bacterial analysis. Bacterial colonies were isolated and selected for sequencing. RESULTS: Strains were seawater borne and facultative aerobic bacteria from the genera Bacillus, Micrococcus, Paracoccus, Ruegeria and Staphylococcus. Most of them have been related with benefits to its host. None were pathogenic for P. vannamei. CONCLUSION: Cryopreservation implies preserving pathogenic or beneficial bacteria together with the sample. Therefore, it is possible to enhance cryopreserved samples or disperse pathogenic bacteria, which needs to be prevented.
Assuntos
Bactérias/isolamento & purificação , Criopreservação , Penaeidae/microbiologia , Espermatozoides/microbiologia , Animais , Bactérias/classificação , Bactérias/genética , Masculino , RNA Ribossômico 16S/genética , RNA Ribossômico 16S/metabolismo , Análise de Sequência de DNARESUMO
The combination of Turner syndrome with other genetic disorders such as congenital cataract has been reported, but its association with a congenital form with autosomal dominant inheritance and incomplete penetrance has not been previously reported in the literature. There are no reports on its presentations with rearrangements on chromosome 17. We report the exceptional case of a 20 months old girl with a constellation of major and minor anomalies, diagnosed with mosaic Turner syndrome by isochromosome Xq associated with a microduplication 17p13.3p13.2, who also had bilateral congenital nuclear cataract autosomal dominant with incomplete penetrance. We reviewed in the literature the origin and cause of these genetic alterations and we provided an approach to the hypothesis of the pathogenesis of the association of two of these genetic disorders in the same patient.
RESUMO
En este trabajo se propone y se valida una metodología analítica por espectrofotometría UV aplicada al estudio de la solubilidad de algunas sulfonamidas en mezclas cosolventes. Los parámetros evaluados fueron: especificidad, linealidad, precisión y límites de detección y cuantificación, así como la estabilidad de los fármacos bajos las condiciones de análisis de solubilidad. El método propuesto es útil para determinar la solubilidad de estas sulfonamidas en función de la temperatura y la composición cosolvente.
An analytical method by UV-spectrophotometry has been proposed and validated to study the solubility of some sulfonamides in cosolvent mixtures. The parameters evaluated were specificity, linearity, precision, and detection and quantification limits, as well as the drug stability under the solubility analysis conditions. The developed method was useful to determine the solubility of these drugs as a function of temperature and cosolvent concentration.
Neste trabalho propomos é validamos uma metodologia analítica ultravioleta para o estudo da solubilidade de alguns sulfamidas em misturas dos solventes. Os parâmetros avaliados foram: especificidade, linearidade, precisão, exatidão e limites de detecção e quantificação, e a estabilidade dos fármacos nas condições de estúdio. O método proposto é útil para a determinação da solubilidade destes sulfamidas em função da temperatura e da composição do cosolvente.