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1.
Vet Sci ; 11(6)2024 May 29.
Artigo em Inglês | MEDLINE | ID: mdl-38921992

RESUMO

(1) Background: This study assessed the efficacy of hydroxychloride sources of zinc (Zn), manganese (Mn), and copper (Cu) compared with organic sources in the rearing diets of Lohmann brown pullets, focusing on pullet performance, tibia quality, egg production, and eggshell quality. (2) Methods: A total of 120 birds (six replications and 10 birds each) received diets with Mn, Zn, and Cu from organic or hydroxychloride sources during the rearing phase. After the onset of lay, birds were fed diets containing oxide/sulfate sources up to 50 weeks of age. (3) Results: no significant differences were observed in growth performance and tibia quality during the rearing phase (p > 0.05). From 18 to 24 weeks of age, no carryover effect on egg production performance was observed. However, from 25-50 weeks, pullets fed hydroxychloride sources showed lower feed intake and egg mass compared to the organic group (p < 0.05), whereas egg production and eggshell quality remained similar between groups (p > 0.05). (4) Conclusions: These findings suggest the potential of hydroxychloride sources in rearing diets without compromising overall growth in the pullet phase and feed efficiency in the laying cycle.

2.
Poult Sci ; 103(3): 103447, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38271758

RESUMO

Bioelectrical impedance analysis (BIA) was performed in males and females of 2 different broiler strains from 0 to 42 d of age to develop and validate equations to predict body composition (BC). A total of 528 birds, 132 birds per sex and strain (Ross 308 and Cobb 500) were used in the experiment. Birds were fed ad libitum following CVB recommendations with a common starter (0-14 d), grower (15-29 d), and finisher diet (30-42 d). Bioelectrical impedance analysis was measured weekly from 0 to 42 d. Birds were euthanized, frozen and ground for sample collection. Each sample was analyzed through proximate analysis for dry matter (DM), protein, fat, ash, and energy content. Water (%), protein and ash (% DM) decreased with age (77.5-67.5, 69.1-52.2, and 8.12-7.29, respectively; P < 0.0001); whereas fat (% DM) and energy (cal/g DM) increased with the age (20.7-36.4 and 5,421-6151, respectively; P < 0.0001). Males had significantly higher water (%) and protein (% DM) contents, and lower lipid (% DM) deposits than females (70.5, 55.5, and 32.6 vs. 69.6, 54.6, and 33.7, respectively; P < 0.0001). Cobb 500 had a higher fat and lower protein (% DM) and water (%) content than Ross (34.6, 54.0, and 69.7 vs. 31.7, 56.1, and 70.4, respectively; P < 0.0001). A multiple linear regression analysis was carried out to select the equation model to predict BC using the relative mean prediction error (RMPE, %) to evaluate the accuracy. The coefficients of determination (R2) to estimate water (%), protein, fat, ash (% DM) and energy content (cal/g DM) were 0.909, 0.825, 0.795, 0.493, and 0.838, respectively, and the RMPE were 1.26, 3.46, 7.73, 8.85, and 1.86%, respectively. A t test analysis was run, observing no differences in any of the parameters under study between the analyzed and estimated values. Based on these results, we can conclude that BIA can be used as a valid non-invasive technique to estimate in vivo BC in broilers.


Assuntos
Galinhas , Dieta , Animais , Masculino , Feminino , Impedância Elétrica , Dieta/veterinária , Composição Corporal , Proteínas/metabolismo , Água/metabolismo
4.
Poult Sci ; 102(9): 102860, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37406436

RESUMO

Modifying dietary amino acids has been proposed as a strategy to improve eggshell quality by slowing down increases in egg weight (EW). This study aimed to investigate the effects of different levels of digestible lysine (dLYS) and ratios of digestible sulfur amino acids (dTSAA) to dLYS on performance and eggshell quality in ISA brown hens. A total of 288 hens were individually housed and assigned to 8 treatments, which combined 2 levels of dLYS (5.9 and 5.5 g/kg) with 4 ratios of dTSAA:dLYS (90, 85, 80, and 75) in a factorial arrangement. The study lasted 12 wk, starting at 62 wk of age. The number of eggs was not affected by the interaction between dLYS and dTSAA:dLYS or their main effect. However, the interaction between dLYS and dTSAA:dLYS showed that reducing the dTSAA:dLYS ratio from 85 to 75 when hens were fed 5.5 g/kg of dLYS resulted in a lower EW. Conversely, when hens were fed 5.9 g/kg of dLYS, no significant difference was found in EW among the different ratios of dTSAA:dLYS. Although there was no interaction between the levels of dLYS and dTSAA:dLYS on eggshell quality, reducing the dLYS level from 5.9 to 5.5 slowed down the deterioration in eggshell-breaking strength and eggshell thickness, regardless of the dTSAA:dLYS ratio. These findings suggest that adjusting dietary dLYS while maintaining the dTSAA:dLYS ratio of no less than 85 may be an effective strategy for decelerating the deterioration of eggshell quality in laying hen operations without impacting the egg production rate.


Assuntos
Aminoácidos Sulfúricos , Lisina , Animais , Feminino , Lisina/análise , Aminoácidos Sulfúricos/farmacologia , Galinhas , Casca de Ovo , Ração Animal/análise , Óvulo , Dieta/veterinária , Suplementos Nutricionais
5.
Poult Sci ; 102(6): 102684, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37116283

RESUMO

Reducing the dependency on soybean meal (SBM) is necessary to improve the sustainability of the poultry industry. Moreover, the recommendations for minimum contents of dietary Gly+Ser require further research. Two parallel studies were executed to determine the effects of replacing SBM with crystalline amino acids (CAA) to meet the amino acid requirements and to determine whether a minimum content of Gly+Ser is necessary for broiler diets. In study 1, 1,860 one-day-old male chicks were fed a common starter phase diet (22.8% CP). During the grower-1, grower-2, and finisher phases, the control CP content was reduced (up to 2.1%) with the stepwise addition of CAA (treatments 1-5). Within each feeding phase, AME, standardized ileal digestible Lys, and the minimum Met, Thr, Val, Gly+Ser, Ile, Arg, and Trp to Lys ratios were similar. In study 2, 1,488 male chickens were used in a 2 × 2 factorial design with the Gly+Ser content and feed ingredients used as main factors. Performance was monitored during 41 d in both studies. Reduction in CP content linearly increased (P < 0.05) BW, ADG, and ADFI in the grower-1, grower-2, and finisher phases. When the overall FCR was adjusted considering the BW differences (FCRadj); FCRadj linearly decreased with the weighted average CP (WACP) content (P < 0.001). In the lowest CP treatment, estimated dietary N utilization efficiency was improved by 10%, and the overall N excretion was reduced by 16% compared with the control (P < 0.001). The overall SBM and soybean oil intakes were linearly reduced relative to WACP (-12.0 and -20.2% in control vs. treatment 5, respectively; P < 0.001). Formulating with a minimum Gly+Ser content in the starter phase improved the FCR (P < 0.05) only in the corn-SBM-based diet. In grower-1, increasing Gly+Ser content improved the FCR independent of the feed ingredients used (P < 0.05). Crystalline amino acids can be used to partially replace intact protein reducing the dependency on SBM. Young birds may not synthesize enough Gly endogenously and a minimum content should be provided in the early phases.


Assuntos
Aminoácidos , Glicina , Animais , Masculino , Aminoácidos/metabolismo , Serina , Galinhas/metabolismo , Suplementos Nutricionais , Dieta/veterinária , Proteínas Alimentares/metabolismo , Glycine max/metabolismo , Ração Animal/análise , Fenômenos Fisiológicos da Nutrição Animal
6.
Animals (Basel) ; 12(21)2022 Oct 25.
Artigo em Inglês | MEDLINE | ID: mdl-36359050

RESUMO

The aim of this study was to assess and validate, using independent data, the prediction equations obtained to estimate in vivo carcass composition using bioelectrical impedance analysis (BIA) to determine the nutrient retention and overall energy and nitrogen retention efficiencies of growing rabbits. Seventy-five rabbits grouped into five different ages (25, 35, 49, 63 and 77 days) were used in the study. A four-terminal body-composition analyzer was applied to obtain resistance (Rs, Ω) and reactance (Xc, Ω) values. All the animals were stunned and bled at each selected age, and the chilled carcasses were analyzed to determine water, fat, crude protein (CP), ash and gross energy (GE). Multiple linear regression analysis was conducted to determine the equations, using body weight, length and impedance data as independent variables. The coefficients of determination (R2) to estimate the content of water, protein, fat and ash in grams, and energy in Mega Jules(MJ), were: 0.99, 0.99, 0.95, 0.96 and 0.98, respectively, and the relative mean prediction errors (RMPE) were: 4.20, 5.48, 21.9, 9.10 and 6.77%, respectively. Carcass yield (%) estimation had values of 0.50 and 10.0 for R2 and RMPE, respectively. When water content was expressed as a percentage, the R2 and RMPE were 0.79 and 1.62%, respectively. When the protein, fat and ash were expressed as a percentage of dry matter (%DM) and the energy content as kJ/100 g DM, the R2 values were 0.68, 0.76, 0.66 and 0.82, respectively, and the RMPEs were 3.22, 10.5, 5.82 and 2.54%, respectively. Energy Retention Efficiency was 20.4 ± 7.29%, 21.0 ± 4.18% and 20.8 ± 2.79% from 35 to 49, from 49 to 63 and from 35 to 63 d, respectively. Nitrogen Retention Efficiency was 46.9 ± 11.7%, 34.5 ± 7.32% and 39.1 ± 3.23% for the same periods. Energy was retained in body tissues for growth with an efficiency of approximately 52.5%, and the energy efficiency for protein and fat retention was 33.3 and 69.9%, respectively. This work shows that BIA is a non-invasive and good method to estimate in vivo carcass composition and to determine the nutrient retention of growing rabbits from 25 to 77 days of age.

7.
Poult Sci ; 101(11): 102132, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36088817

RESUMO

Formulating diets with high AME, especially in the grower and finisher phases, hinders the inclusion of alternative ingredients that are usually cheaper and have lower AME. Moreover, as the chicken grows the feed intake capacity is greater and may be able to maintain BW over a wide range of AME. The objective of this study was to evaluate the performance of chickens fed diets with progressive AME reductions, at constant or increased standardized ileal digestible (SID) lysine:AME ratio (Lys:AME). Treatment 1 (control) was formulated following the SID lysine and AME recommendations for a 4-phase feeding program. Treatment 5 was formulated with -4, -8, and -12% AME in the grower-1, grower-2, and finisher phases, respectively, and with the same Lys:AME compared with the control. Treatment 9 had the same AME as treatment 5 but higher SID lysine, increasing the Lys:AME by 1.5, 3.5, and 5.0% compared with treatment 5. In the grower-1, grower-2, and finisher phases, the final 9 dietary treatments were prepared by mixing the control diet with either treatment 5 or 9 at different proportions (75:25, 50:50, or 25:75). All birds were fed the same starter control diet. Treatments were replicated in 10 pens with 31 male chickens each, and the growth performance of birds was monitored for 42 d. Final BW linearly decreased (P < 0.05) when lowering dietary AME, but it followed a positive quadratic response with higher Lys:AME (P < 0.05). Feed intake increased (P < 0.05) with low AME, independently of the Lys:AME; but the linear regression in the feed conversion ratio (FCR) had a lower slope when the Lys:AME increased. At the end of the study, there were no differences in carcass or breast meat yield (P > 0.10). Progressively reducing AME in the last feeding phases may be a viable nutritional strategy to increase the inclusion of alternative ingredients and potentially reduce feeding costs, despite increments in feed intake and FCR. Adjusting the Lys:AME in low AME diets may help maintain the final BW of birds.


Assuntos
Lisina , Animais , Masculino , Ração Animal/análise , Fenômenos Fisiológicos da Nutrição Animal , Composição Corporal , Galinhas , Dieta/veterinária , Suplementos Nutricionais , Lisina/metabolismo
8.
Enferm. nefrol ; 25(3): 258-262, julio 2022. ilus
Artigo em Espanhol | IBECS | ID: ibc-210103

RESUMO

Introducción: La fístula arteriovenosa es considerada el acce-so de elección para los pacientes en hemodiálisis; en los últi-mos años emerge una alternativa a la creación quirúrgica de esta: la fístula arteriovenosa endovascular. Esta nueva tecno-logía conlleva un método menos agresivo y sin cirugía. Objetivo: Describir los datos preliminares de nuestra unidad tras la implantación de este sistema novedoso, así como su implicación para enfermería.Material y Método: Análisis descriptivo retrospectivo de las FAV-endovasculares realizadas a cinco pacientes mediante técnica percutánea. Se consideraron las características de los pacientes, de las FAV-endovasculares realizadas y la dificultad para su punción (escala EVA).Resultados: La edad media fue de 63 (47-77) años, 100% hom-bres, dializándose con catéter tunelizado, a 4 de los pacientes se les había realizado al menos una fístula arteriovenosa qui-rúrgica sin éxito. La creación de la FAV-endovascular fue exito-sa en 4 de los 5 pacientes, todas con localización radio-radial. No hubo complicaciones durante el procedimiento. De las 4 FAV-endovasculares 3 precisaron intervención endovascular posterior para su maduración. La media de tiempo de madu-ración 4,5 (4-5) meses; las 4 continuaron permeables al año. Puntuada por 9 enfermeras experimentadas, la mediana de di-ficultad fue: punción inicial: 7, a partir del mes: 5 y comparada con las FAV quirúrgicas: 5.Conclusiones: La FAV-endovascular supuso un procedimiento mínimamente invasivo con menor impacto para los pacientes, elevado éxito inicial, pero precisó intervención endovascular posterior para su maduración. La dificultad para la punción fue más elevada inicialmente. La ausencia de cicatriz como refe-rencia supuso realizar una exploración más exhaustiva. (AU)


Introduction: Arteriovenous fistula is considered the priority access for hemodialysis patients. In recent years, an alternati-ve to the surgical creation of an arteriovenous fistula has been chosen, such as the endovascular arteriovenous fistula. This new technology involves a less aggressive and non-surgical approach. Objective: To describe the preliminary data from our unit af-ter the implementation of this novel system, as well as the nurse involvement.Material and Method:Retrospective descriptive analysis of the endovascular AVFs performed in five patients using the percutaneous technique. The characteristics of the patients, the endovascular AVFs performed and the difficulty of punc-ture (VAS scale) were considered. Results:Mean age was 63(47-77) years, 100% male, dialy-sing with a tunneled catheter, 4 of the patients had at least one unsuccessful surgical arteriovenous fistula. Endovascular AVF creation was successful in 4 of the 5 patients, all with radio-radial location. There were no complications during the procedure. Of the 4 endovascular AVFs 3 required subse-quent endovascular intervention for maturation. The median maturation time was 4.5 (4-5) months; all 4 remained permea-ble at 1 year. The median difficulty score by 9 experienced nurses was for initial puncture: 7; after 1 month: 5 and compared to surgical AVFs: 5. Conclusions: Endovascular AVF was a minimally invasive pro-cedure with lower patient impact, high initial success, but re-quired subsequent endovascular intervention for maturation. Difficulty of puncture was higher initially. The absence of scar as a baseline meant a more thorough exploration. (AU)


Assuntos
Humanos , Diálise Renal , Enfermagem , Fístula Arteriovenosa , Pacientes , Dispositivos de Acesso Vascular , Cicatriz
9.
Rev. esp. cardiol. (Ed. impr.) ; 74(5): 402-413, may. 2021. tab, graf
Artigo em Inglês, Espanhol | IBECS | ID: ibc-232552

RESUMO

Introducción y objetivos La muerte súbita (MS) de personas jóvenes suele tener una causa genética, por lo cual la «autopsia molecular» puede tener implicaciones importantes para los familiares. El objetivo del estudio es evaluar el rendimiento diagnóstico de un programa de autopsia molecular mediante secuenciación masiva. Métodos Estudio prospectivo de una cohorte de pacientes consecutivos de edad ≤ 50 años y fallecidos por MS no violenta, a los que se realizó autopsia molecular mediante paneles amplios por secuenciación masiva, con posterior cribado familiar clínico y genético. Se analizan datos demográficos, clínicos, toxicológicos y genéticos. Resultados Se estudiaron 123 casos consecutivos de MS a edades ≤ 50 años. La incidencia de MS fue de 5,8 casos/100.000 individuos/año, a una media de edad de 36,15±12,7 años; 95 (77%) eran varones. La causa fue cardiaca en el 53%; MS inexplicada en el 24%, tóxicos en el 10,6% y MS del lactante en el 4%. De las cardiacas, el 38% por cardiopatía isquémica, el 7% por miocardiopatía arritmogénica, el 5% por miocardiopatía hipertrófica y el 11% por hipertrofia ventricular izquierda idiopática. Se indicó análisis genético en 62 casos (50,4%). Se hallaron variantes genéticas en 42 (67,7%), con una media de 3,4±4 variantes/paciente, que se consideraron patogénicas o probablemente patogénicas en el 30,6%. De las MS inexplicadas, hasta el 70% presentó alguna variante genética. El estudio familiar permitió detectar a 21 portadores o afectos, 5 de ellos estaban en riesgo, por lo que se indicó implante de desfibrilador. Conclusiones El estudio protocolizado y exhaustivo de la MS cardiaca de personas jóvenes es factible y necesario. En un alto porcentaje la causa es genética y, por lo tanto, existen familiares en riesgo que pueden beneficiarse de un diagnóstico y un tratamiento precoces para evitar complicaciones. (AU)


Introduction and objectives Sudden cardiac death (SCD) in young people often has a genetic cause. Consequently, the results of “molecular autopsy” may have important implications for their relatives. Our objective was to evaluate the diagnostic yield of a molecular autopsy program using next-generation sequencing. Methods We performed a prospective study of a cohort of consecutive patients who died from nonviolent SCD, aged ≤ 50 years, and who underwent molecular autopsy using large panels of next-generation sequencing, with subsequent clinical and genetic family screening. We analyzed demographic, clinical, toxicological, and genetic data. Results We studied 123 consecutive cases of SCD in persons aged ≤ 50 years. The incidence of SCD was 5.8 cases/100 000 individuals/y, mean age was 36.15±12.7 years, and 95 were men (77%). The cause was cardiac in 53%, unexplained SCD in 24%, toxic in 10.6%, and infant SCD in 4%. Among cardiac causes, ischemic heart disease accounted for 38% of deaths, arrhythmogenic cardiomyopathy for 7%, hypertrophic cardiomyopathy for 5%, and idiopathic left ventricular hypertrophy for 11%. Genetic analysis was performed in 62 cases (50.4%). Genetic variants were found in 42 cases (67.7%), with a mean of 3.4±4 genetic variants/patient, and the variant found was considered to be pathogenic or probably pathogenic in 30.6%. In unexplained SCD, 70% showed some genetic variant. Family screening diagnosed 21 carriers or affected individuals, 5 of whom were at risk, indicating an implantable cardiac defibrillator. Conclusions Protocol-based and exhaustive study of SCD from cardiac causes in persons aged ≤ 50 years is feasible and necessary. In a high percentage of cases, the cause is genetic, indicating the existence of relatives at risk who could benefit from early diagnosis and treatment to avoid complications. (AU)


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Adulto , Morte Súbita Cardíaca , Autopsia , Cardiomiopatias , Canalopatias , Genética , Estudos Prospectivos , Sequenciamento de Nucleotídeos em Larga Escala
10.
J Oleo Sci ; 70(4): 459-469, 2021 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-33692234

RESUMO

Nowadays the consumption of essential carotenoids is reduced due to the lower intake of fruits and vegetables, being humans not capable of synthesizing these molecules. ß-carotene is one of the most important carotenoids possessing anti-oxidation, anti-inflammation and anti-cancer properties. The aim of this work consists of preparing virgin olive oils enriched in ß-carotene from fungi at different concentrations (0.041 and 0.082 mg/mL) in order to obtain new functional foods. Values of quality parameters (free acidity, peroxide value, coefficients of specific extinction and p-anisidine) have been obtained, showing that quality of olive oils was improved. Furthermore, the effect of ß-carotene was evaluated as possible oxidative stabilizer during microwave heating and ultra violet-light exposure of the oils. As expected, the enrichment process brought changes in olive oils color, turning them orange-reddish. The use of natural antioxidants, in particular ß-carotene could be an effective way to protect virgin olive oils from degradation and is a good strategy also to enhance the consumption of bioactive compounds improving olive oils shelf-life and nutritional value.


Assuntos
Antioxidantes , Aditivos Alimentares , Alimentos Fortificados , Alimento Funcional , Fungos/química , Azeite de Oliva/química , beta Caroteno , Antioxidantes/isolamento & purificação , Fenômenos Químicos , Aditivos Alimentares/isolamento & purificação , Qualidade dos Alimentos , Armazenamento de Alimentos , Valor Nutritivo , beta Caroteno/isolamento & purificação
11.
J Anim Sci Biotechnol ; 12(1): 38, 2021 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-33685507

RESUMO

BACKGROUND: The objective was to study the effect of hydroxychloride trace minerals (HTM) on growth performance, carcass quality and gut microbiota of broiler chickens in comparison to sulphate trace minerals (STM). In total 1440 male Ross 308 day-old chicks were divided into 12 replicate pens with 30 birds each per treatment. Four different treatments were tested according to a 2 × 2 factorial study design, where the animals received a three phase diet containing either inorganic Zn from sulphates or Zn from HTM in high (80 mg/kg Zn) or low Zn dosage (20 mg/kg Zn). In all treatments 15 mg/kg Cu was added from the same mineral source as the Zn. Body weight and feed intake were measured on day 0, 10, 27 and 34, while carcass and breast meat yields were measured at the end of the study (day 34). In addition, high-throughput sequencing analysis was performed in digesta samples from ileum and cecum to study the gut microbiome (day 34). RESULTS: The results showed an improved (P < 0.05) body weight of broiler chickens fed HTM, regardless of Zn level, on day 27, while on day 34 this effect remained as a tendency (P = 0.0542). In the overall study period, birds fed HTM had a higher (P < 0.05) average daily gain and average daily feed intake when compared to birds fed STM. The mineral source did not affect the carcass characteristics, however, feeding 80 mg/kg Zn resulted in a significantly higher (P = 0.0171) breast meat yield, regardless of source. High-throughput sequencing analysis of the microbiota revealed a higher microbial diversity in the ileum and cecum of HTM fed birds compared to STM fed birds. Taxonomical differences were mainly found in the cecum, specifically between the group fed high and low Zn levels from HTM. This correlated with the mineral contents observed in the cecal digesta. Comparing both groups fed 80 mg/kg Zn, the HTM group had more Streptococcaceae, Streptococcus, Clostridia, Weissella and Leuconostocaceae compared to the STM group. CONCLUSIONS: HTM improved growth performance of broiler chickens; and the source and level of Zn modulated the gut microbiota communities in broilers differentially.

12.
Animals (Basel) ; 11(3)2021 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-33652961

RESUMO

(1) Background: Nowadays the industry aims to improve lay persistency for extended cycles (100 weeks or longer) to make egg production more sustainable. However, intensive egg production challenges hen health, inducing severe osteoporosis and the incidence of bone fractures. In this study, the relationship between bone quality and egg production, and/or eggshell quality, was evaluated at the end of an extended laying cycle of 100 weeks, comparing groups of hens with different production and eggshell quality parameters; (2) Methods: Quality parameters of egg (as weight, egg white height), eggshell (as thickness, weight, breaking strength, elasticity and microstructure) and tibiae bone (weight, diameter, cortical thickness, ash weight, breaking strength, medullary bone) were determined; (3) Results: Hens from groups with a high egg production and good eggshell quality have poorer bone quality (lower ash weight and lesser amount of medullary bone). However, Pearson's correlation analysis shows no clear relationship between bone and egg/eggshell parameters. (4) Conclusions: Bone and egg production/eggshell quality are independent and can be improved separately. Medullary bone has an important contribution to bone mechanical properties, being important to accumulate enough bone medullary bone early in life to maintain skeletal integrity and eggshell quality in old hens.

13.
Rev Esp Cardiol (Engl Ed) ; 74(5): 402-413, 2021 May.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-32917565

RESUMO

INTRODUCTION AND OBJECTIVES: Sudden cardiac death (SCD) in young people often has a genetic cause. Consequently, the results of "molecular autopsy" may have important implications for their relatives. Our objective was to evaluate the diagnostic yield of a molecular autopsy program using next-generation sequencing. METHODS: We performed a prospective study of a cohort of consecutive patients who died from nonviolent SCD, aged ≤ 50 years, and who underwent molecular autopsy using large panels of next-generation sequencing, with subsequent clinical and genetic family screening. We analyzed demographic, clinical, toxicological, and genetic data. RESULTS: We studied 123 consecutive cases of SCD in persons aged ≤ 50 years. The incidence of SCD was 5.8 cases/100 000 individuals/y, mean age was 36.15±12.7 years, and 95 were men (77%). The cause was cardiac in 53%, unexplained SCD in 24%, toxic in 10.6%, and infant SCD in 4%. Among cardiac causes, ischemic heart disease accounted for 38% of deaths, arrhythmogenic cardiomyopathy for 7%, hypertrophic cardiomyopathy for 5%, and idiopathic left ventricular hypertrophy for 11%. Genetic analysis was performed in 62 cases (50.4%). Genetic variants were found in 42 cases (67.7%), with a mean of 3.4±4 genetic variants/patient, and the variant found was considered to be pathogenic or probably pathogenic in 30.6%. In unexplained SCD, 70% showed some genetic variant. Family screening diagnosed 21 carriers or affected individuals, 5 of whom were at risk, indicating an implantable cardiac defibrillator. CONCLUSIONS: Protocol-based and exhaustive study of SCD from cardiac causes in persons aged ≤ 50 years is feasible and necessary. In a high percentage of cases, the cause is genetic, indicating the existence of relatives at risk who could benefit from early diagnosis and treatment to avoid complications.


Assuntos
Cardiomiopatia Hipertrófica , Morte Súbita Cardíaca , Adolescente , Adulto , Autopsia , Cardiomiopatia Hipertrófica/genética , Morte Súbita Cardíaca/epidemiologia , Morte Súbita Cardíaca/etiologia , Feminino , Testes Genéticos , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Adulto Jovem
14.
Nutr. hosp ; 37(6): 1285-1288, nov.-dic. 2020. ilus
Artigo em Espanhol | IBECS | ID: ibc-198319

RESUMO

INTRODUCCIÓN: la vitamina cobalamina es esencial para el buen funcionamiento del SNC, la hematopoyesis y la síntesis de ADN. Su déficit es frecuentemente secundario a la anemia perniciosa o a las dietas vegetarianas estrictas. CASO CLÍNICO: lactante varón de 18 meses con disminución del nivel de conciencia y trastorno del movimiento (temblor y movimientos coreiformes) de horas de duración. Como antecedentes, presenta retraso de la adquisición de los hitos motores (no bipedestación, lenguaje monosilábico) y pérdida progresiva de los mismos en las últimas semanas (sostén cefálico y sedestación). Alimentado mediante lactancia materna desde el nacimiento. La familia sigue una alimentación vegetariana. En las pruebas de neuroimagen, la TC y la RM craneales muestran atrofia supratentorial generalizada de ambas sustancias y de los ganglios basales. Se inicia tratamiento con vitamina B12 intramuscular, aumentando sus niveles. Posteriormente se procede a la diversificación alimentaria y la administración de cianocobalamina oral, con normalización clínica al cabo de 6 meses y radiológica al cabo de 7 meses. DISCUSIÓN: recalcamos la importancia de la suplementación con B12 durante el embarazo y la lactancia tanto en la mujer como en el lactante


INTRODUCTION: the vitamin cobalamin is essential for a proper functioning of the CNS, hematopoiesis, and DNA synthesis. Its deficiency is frequently secondary to pernicious anemia or strict vegetarian diets. CASE REPORT: an 18-month-old male infant presented with a decreased level of consciousness and movement disorder (tremor and choreiform movements) of several hours' standing. He had a history of delayed acquisition of motor milestones (not standing, monosyllabic language), and progressive loss of these over the last few weeks (head support and sitting). He had been breastfed from birth. His family has a vegetarian diet. In neuroimages, cranial CT and MRI scans showed generalized supratentorial atrophy involving both matters and the basal ganglia. Treatment was started with intramuscular vitamin B12, which increased its levels. Subsequently, the patient was subjected to dietary diversification and oral cyanocobalamin, with clinical normalization after 6 months and radiological normalization after 7 months. DISCUSSION: we emphasize the importance of vitamin B12 supplementation during pregnancy and lactation in vegetarian mothers and their infants


Assuntos
Humanos , Masculino , Lactente , Encefalopatias/diagnóstico por imagem , Encefalopatias/tratamento farmacológico , Deficiência de Vitamina B 12/terapia , Terapia Nutricional/métodos , Vitamina B 12/administração & dosagem , Terapia Nutricional/efeitos adversos , Transtornos da Consciência/complicações , Tremor/complicações , Neuroimagem , Tomografia Computadorizada por Raios X
15.
Nutr Hosp ; 37(6): 1285-1288, 2020 Dec 16.
Artigo em Espanhol | MEDLINE | ID: mdl-33241939

RESUMO

INTRODUCTION: Introduction: the vitamin cobalamin is essential for a proper functioning of the CNS, hematopoiesis, and DNA synthesis. Its deficiency is frequently secondary to pernicious anemia or strict vegetarian diets. Case report: an 18-month-old male infant presented with a decreased level of consciousness and movement disorder (tremor and choreiform movements) of several hours' standing. He had a history of delayed acquisition of motor milestones (not standing, monosyllabic language), and progressive loss of these over the last few weeks (head support and sitting). He had been breastfed from birth. His family has a vegetarian diet. In neuroimages, cranial CT and MRI scans showed generalized supratentorial atrophy involving both matters and the basal ganglia. Treatment was started with intramuscular vitamin B12, which increased its levels. Subsequently, the patient was subjected to dietary diversification and oral cyanocobalamin, with clinical normalization after 6 months and radiological normalization after 7 months. Conclusions: we emphasize the importance of vitamin B12 supplementation during pregnancy and lactation in vegetarina mothers and their infants.


INTRODUCCIÓN: Introducción: la vitamina cobalamina es esencial para el buen funcionamiento del SNC, la hematopoyesis y la síntesis de ADN. Su déficit es frecuentemente secundario a la anemia perniciosa o a las dietas vegetarianas estrictas. Caso clínico: lactante varón de 18 meses con disminución del nivel de conciencia y trastorno del movimiento (temblor y movimientos coreiformes) de horas de duración. Como antecedentes, presenta retraso de adquisición de hitos motores (no bipedestación, lenguaje monosilábico) y pérdida progresiva de los mismos en lúltimas semanas (sostén cefálico y sedestación). Alimentado mediante lactancia materna desde el nacimiento. La familia sigue una alimentación vegetariana. En las pruebas de neuroimagen, la TC y la RM craneales muestran atrofia supratentorial generalizada de ambas sustancias y de los ganglios basales. Se inicia tratamiento con vitamina B12 intramuscular, aumentando sus niveles. Posteriormente se procede a la diversificación alimentaria y la administración de cianocobalamina oral, con normalización clínica al cabo de 6 meses y radiológica al cabo de 7 meses. Conclusiones: recalcamos la importancia de la suplementación con B12 durante el embarazo y lactancia tanto en la mujer como en el lactante.


Assuntos
Encefalopatias/etiologia , Dieta Vegana/efeitos adversos , Deficiência de Vitamina B 12/complicações , Vitamina B 12/uso terapêutico , Complexo Vitamínico B/uso terapêutico , Encefalopatias/diagnóstico por imagem , Encefalopatias/terapia , Humanos , Lactente , Masculino , Veganos , Deficiência de Vitamina B 12/terapia
16.
Poult Sci ; 99(10): 4904-4913, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32988527

RESUMO

During the incubation period, the Ca-to-P weight (mg/mg) ratio in the yolk increases from 0.26 on day 0 to 0.92 on day 17.5 and to 2.9 at hatch. Moreover, the absolute Ca content in the yolk increases by 41%, whereas P content decreases by 87%, from day 0 to the day of hatching. Thus, at hatch and during the first days after hatching, there are high reserves of Ca relative to P in the residual egg yolk, risking hypercalcemia and hypophosphatemia. A growth performance study was conducted to explore the effects of reducing dietary Ca content in the prestarter phase (0-4 D) on BW and bone mineral deposition during the first days after hatch and at market weight (day 37). Four prestarter (0-4 D) diets were formulated to have 0.4, 0.6, 0.8, and 1.0% Ca content. After the prestarter phase, all birds were fed with the same commercial diets based on a 3-phase feeding program (starter, grower, and finisher). Growth performance (BW, ADG, ADFI, and feed conversion ratio [FCR]) was monitored throughout the study, and blood and tibia bone samples were collected on specific days. On day 4, BW and ADG decreased with dietary Ca contents higher than 0.6% (P < 0.05), but there were no differences in BW on day 14 onward (P > 0.10). For the overall study (0-37 D), there were no differences in ADG and ADFI, but the FCR decreased with lower Ca contents (P < 0.05). On day 4, there were no differences in blood plasma Ca concentration, but P concentration increased in the group treated with diet containing 0.4% Ca compared with the groups treated with diets containing 0.6 and 0.8% Ca (P < 0.05). Tibia ash content decreased in the group treated with diet containing 0.4% Ca (P < 0.05) compared with all other treatments at the end of the prestarter phase. Tibia ash content and tibia breaking strength, on day 37, were not different among the treatments (P > 0.10). In conclusion, during the prestarter phase, BW increased with dietary Ca contents lower than 0.6%, most likely improving Ca-P balance; bone mineral deposition was reduced in this period. On feeding with a diet containing higher Ca content, bone mineral content was rapidly recovered.


Assuntos
6-Fitase , Cálcio da Dieta , Cálcio , Fósforo , Tíbia , Ração Animal/análise , Fenômenos Fisiológicos da Nutrição Animal/efeitos dos fármacos , Animais , Análise Química do Sangue , Cálcio/sangue , Cálcio da Dieta/farmacologia , Galinhas/crescimento & desenvolvimento , Dieta/veterinária , Fósforo/sangue , Tíbia/efeitos dos fármacos
17.
Poult Sci ; 98(11): 5215-5225, 2019 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-31265108

RESUMO

Broiler chickens have an extreme physiology (rapid growth rates) that challenges the correct bone mineralization, being an interesting animal model for studying the development of bone pathologies. This work studies in detail how the mineralization, chemistry, and structural organization of tibiae bone in broiler chickens change with age during the first 5 wk (37 D) from hatching until acquiring the final weight for slaughter. During the early growth phase (first 2 wk), the rapid addition of bone tissue does not allow for bone organic matrix to fully mineralize and mature, and seems to be a critical period for bone development at which bone mineralization cannot keep pace with the rapid growth of bones. The low degree of bone mineralization and large porosity of cortical bone at this period might be responsible of leg deformation and/or other skeletal abnormalities commonly observed in these birds. Later, cortical bone porosity gradually decreases and the cortical bone became fully mineralized (65%) at 37 D of age. At the same time, bone mineral acquires the composition of mature bone tissue (decreased amount of carbonate, higher crystallinity, Ca/P = 1.68). However, the mineral part was still poorly organized even at 37 D. The oriented fraction was about 0.45 which means that more than half of apatite crystals within the mineral are randomly oriented. Mineral organization (crystal orientation) had an important contribution to bone-breaking strength. Nevertheless, locally determined (at tibia mid-shaft) bone properties (i.e., cortical thickness, crystal orientation) has only a moderate correlation (R2 = 0.33) with bone breaking strength probably due to large and highly heterogeneous porosity of bone that acts as structural defects. On the other hand, the total amount of mineral (a global property) measured by total ash content was the best predictor for breaking strength (R2 = 0.49). Knowledge acquired in this study could help in designing strategies to improve bone quality and reduce the incidence of skeletal problems in broiler chickens that have important welfare and economic implications.


Assuntos
Calcificação Fisiológica , Galinhas/fisiologia , Tíbia/fisiologia , Fatores Etários , Animais , Galinhas/crescimento & desenvolvimento , Masculino
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