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1.
Biol Trace Elem Res ; 2024 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-38739259

RESUMO

Zinc is a vital trace element, yet its deficiency is common in various populations. This study addresses the gap in understanding zinc intake and its relationship with key nutritional parameters in a Colombian population. We analyzed data from 12,987 individuals, focusing on the daily intake of zinc, phytate, protein, and calcium, and used the phytate/zinc molar ratio as an input parameter in the Miller et al. (2013) model. This model was employed to estimate the total absorbed zinc (TAZ) and the fractional absorption of zinc (FAZ). Our findings highlight a general trend towards insufficient intake compared to the standards of the Institute of Medicine (IOM) and Colombia, with a significant percentage of the population falling below the estimated average requirement (EAR) and recommended daily allowance (RDA) for zinc, underscoring the need for targeted nutritional strategies. Our study contributes to a broader understanding of zinc nutrition and public health implications in Colombia, providing a basis for future dietary guidelines and health interventions.

2.
Res Vet Sci ; 164: 105017, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37696108

RESUMO

Equine piroplasmosis is a parasitic illness caused by various protozoa of the Babesia and Theileria genera, which parasitize within red blood cells. The transmission of these pathogens occurs through certain genus of ticks, including Amblyomma, Haemaphysalis, Hyalomma, and Rhipicephalus. In recent times, an increase in the identification of new Theileria species and genotypes has been observed. This is further complicated by the presence of mixed Theileria infections in both mammals and tick vectors, particularly in regions where wildlife and livestock share habitats and vectors. Therefore, the objective of this study is to document the occurrence of Theileria cervi in a non-typical host. A total of 88 horses (Equus caballus) and 10 donkeys (Equus asinus) were sampled in three municipalities in Veracruz, Mexico. Molecular techniques were employed to identify Babesia/Theileria through the amplification of a segment of the 18S-rDNA and hsp70 genes. The phylogenetic reconstruction grouped the obtained sequences into a monophyletic cluster alongside sequences of T. cervi. This work represents the first documented occurrence of T. cervi in equids. These findings have significant implications from an epidemiological point of view. In addition, further studies are needed to determine the distribution and pathogenicity of this species for domestic animals and to develop effective control strategies.


Assuntos
Babesia , Babesiose , Doenças dos Bovinos , Coinfecção , Doenças dos Cavalos , Ixodidae , Rhipicephalus , Theileria , Theileriose , Infestações por Carrapato , Animais , Cavalos , Bovinos , Theileria/genética , Filogenia , México/epidemiologia , Infestações por Carrapato/veterinária , Babesia/genética , Theileriose/epidemiologia , Equidae , Mamíferos , Coinfecção/veterinária , Babesiose/epidemiologia , Babesiose/parasitologia , Doenças dos Bovinos/parasitologia , Doenças dos Cavalos/epidemiologia
3.
Mil Med ; 188(3-4): e584-e590, 2023 03 20.
Artigo em Inglês | MEDLINE | ID: mdl-34591089

RESUMO

INTRODUCTION: As the combat operational tempo of the military conflicts in Iraq and Afghanistan has declined over the last decade, there has been a decrease in the number of patients requiring acute limb salvage. In their place, a growing population of patients with persistent functional deficits, pain, and inadequate soft tissue coverage stemming from prior limb salvage strategies have returned to our institution seeking revision surgery. Herein, we examine our institution's evolving surgical approach to extremity reconstruction from 2011 through 2019, culminating in the development of our limb restoration concept. We also discuss the impact of this orthoplastic approach on the acute management of complex extremity trauma and its role in providing sustained surgical readiness during interwar years. MATERIALS AND METHODS: We retrospectively reviewed all limb reconstructive procedures performed at our tertiary care military treatment facility between September 1, 2011 to December 31, 2019 to characterize the trends in extremity reconstruction procedures performed at our institution. Cases were identified as limb restoration procedures if they involved secondary/revision reconstructive procedures designed to optimize function, treat pain, or improve the durability of the injured extremity following initial reconstruction efforts. RESULTS: Nearly 500 limb restoration procedures were performed during the study period. These procedures steadily increased since 2011, reaching a maximum of 120 in 2018. Orthoplastic procedures such as osseointegration, targeted muscle reinnervation, regenerative peripheral nerve interface, agonist-antagonist myoneural interface, and soft tissue resurfacing flap reconstruction accounted for the rise in secondary/revision reconstruction performed during this time period. CONCLUSION: Limb restoration is a collaborative orthoplastic approach that utilizes state-of-the-art surgical techniques for treating complex extremity trauma. Although limb restoration originally developed in response to managing the long-term sequelae of combat extremity trauma, the concept can be adapted to the acute management setting. Moreover, limb restoration provides military surgeons with a means for maintaining critical war-time surgical skills during the current low casualty rate era. Level of Evidence: V, therapeutic.


Assuntos
Procedimentos de Cirurgia Plástica , Lesões dos Tecidos Moles , Humanos , Salvamento de Membro/métodos , Estudos Retrospectivos , Extremidades/cirurgia , Extremidades/lesões , Lesões dos Tecidos Moles/cirurgia , Resultado do Tratamento
4.
Rev Bras Parasitol Vet ; 31(3): e005622, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35946612

RESUMO

The objectives of the present study were: (1) to determine the prevalence of Eimeria spp. sporulated oocysts in calves from 26 Municipalities in the Central Zone of the State of Veracruz, Mexico, (2) to identify the Eimeria spp. infecting calves, and (3) to identify the risk factors associated with the presence of Eimeria spp. in tropical cattle. A total of 930 individual fecal samples were analyzed by using the McMaster technique; then, oocysts were maintained in 2.5% potassium dichromate to allow sporulation. The general prevalence of calves with Eimeria spp. oocysts was 39.7% (370/930). Of a total of 10 identified species, Eimeria canadensis was the most observed, followed by Eimeria bovis and Eimeria zuernii. The statistical analysis showed an association between the age of the calves (5 to 9 months), the presence of other animals, the physiographic regions and the restricted type of husbandry with the presence of Eimeria spp. in calves (P<0.05). Protective risk factors, such as: routine coprological analysis was also associated with a decrease in infection. These data demonstrate the presence of coccidia in cattle from the State of Veracruz, additionally to the necessary measures that must be taken to control this parasitosis.


Assuntos
Doenças dos Bovinos , Coccidiose , Eimeria , Animais , Bovinos , Doenças dos Bovinos/epidemiologia , Doenças dos Bovinos/parasitologia , Coccidiose/epidemiologia , Coccidiose/parasitologia , Coccidiose/veterinária , Fezes/parasitologia , México/epidemiologia , Oocistos , Prevalência , Fatores de Risco
5.
Rev Bras Parasitol Vet ; 31(3): e006622, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35946613

RESUMO

A dog that shared habitat with domestic animals in a cattle farm and that was exposed to wildlife was taken to a private practitioner for clinical examination. The analyses conducted on the patient revealed the presence of Babesia bigemina by a molecular test. Clinical signs such as lethargy, anorexia and hyperthermia > 39 °C, pale mucous membranes and blood urine were observed in the patient. The animal was treated with imidocarb dipropionate (two doses each 0.5 ml/10 kg b.w. at an interval of 14 days). On treatment day 7, the clinical signs were mostly reduced. On day 30, PCR was carried out to assess the efficacy of the treatment, with a negative result. This case represents the first report of babesiosis due to B. bigemina in a dog living on a cattle farm in Mexico. It indicates the lower host specify of these pathogens and that dogs can play a role as sentinels of vector-borne parasites in livestock animals.


Assuntos
Babesia , Babesiose , Doenças dos Bovinos , Doenças do Cão , Animais , Babesia/genética , Babesiose/diagnóstico , Babesiose/tratamento farmacológico , Babesiose/parasitologia , Bovinos , Doenças dos Bovinos/parasitologia , Doenças do Cão/diagnóstico , Doenças do Cão/tratamento farmacológico , Cães , México , Reação em Cadeia da Polimerase/veterinária
6.
Sensors (Basel) ; 22(12)2022 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-35746397

RESUMO

There is a group of users within the vehicular traffic ecosystem known as Vulnerable Road Users (VRUs). VRUs include pedestrians, cyclists, motorcyclists, among others. On the other hand, connected autonomous vehicles (CAVs) are a set of technologies that combines, on the one hand, communication technologies to stay always ubiquitous connected, and on the other hand, automated technologies to assist or replace the human driver during the driving process. Autonomous vehicles are being visualized as a viable alternative to solve road accidents providing a general safe environment for all the users on the road specifically to the most vulnerable. One of the problems facing autonomous vehicles is to generate mechanisms that facilitate their integration not only within the mobility environment, but also into the road society in a safe and efficient way. In this paper, we analyze and discuss how this integration can take place, reviewing the work that has been developed in recent years in each of the stages of the vehicle-human interaction, analyzing the challenges of vulnerable users and proposing solutions that contribute to solving these challenges.


Assuntos
Acidentes de Trânsito , Pedestres , Acidentes de Trânsito/prevenção & controle , Veículos Autônomos , Ciclismo , Ecossistema , Humanos
7.
Rev. chil. nutr ; 49(2)abr. 2022.
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1388593

RESUMO

RESUMEN La población universitaria presenta cambios en su estilo de vida, que se refleja en su composición corporal, y alteraciones metabólicas. Los estudiantes del área de la salud son futuros promotores de estilos de vida saludables. El objetivo de este trabajo fue identificar la frecuencia del Síndrome metabólico (SM) y sus componentes en los estudiantes del programa de Nutrición y Dietética. Noventa estudiantes de 18 a 25 años, en quienes se evaluaron los componentes del SM, la actividad física por acelerometría, el consumo de alcohol mediante el cuestionario Audit, tabaquismo y horas de sueño por el método Pittsburgh. Las prevalencias encontradas fueron: SM 1,1%, circunferencia de cintura elevada 4,5%, triglicéridos altos 11%, HDL bajos 32%, presión arterial elevada 1,1%. Se encontró que 73% cumplían con las recomendaciones de actividad física recomendadas por la OMS. Sin embargo, el 100% de los estudiantes pasaron más de 9 horas sedentarias por día, el 6,7% presentaron un consumo de alcohol catalogado como perjudicial, 19% estuvieron expuestos al humo o eran fumadores, y el 63,3% se consideraron como malos dormidores. No hubo asociación entre las variables del estilo de vida con los componentes del SM. En conclusión, los triglicéridos altos y las HDL bajas, el sedentarismo y la baja calidad de sueño son variables importantes para tener en consideración en programas de intervención con la finalidad de ser nutricionistas coherentes con la profesión.


ABSTRACT Changes to body composition and metabolic functions occur in the university population due to lifestyle choices. Students in the health programs are expected to fulfill a fundamental role in promoting healthy lifestyles. The objective of this work was to identify the frequency of Metabolic Syndrome (MS) and its components among students of a Nutrition and Dietetics program. Ninety students between 18 and 21 years old were evaluated for each of the components of the MS, physical activity by accelerometry, alcohol consumption by Audit questionnaire, smoking, and hours of sleep by Pittsburgh method. The prevalence found were: MS 1.1%, high waist circumference 4.5%, high triglycerides 11%, low HDL 32%, high blood pressure 1.1%. Regarding variables related to lifestyle habits, 73% complied with physical activity recommendations recommended by the WHO. However, 100% of the students were sedentary more than 9 hours per day, 6.7% had alcohol consumption classified as harmful, 19% were exposed to smoke or were smokers, and 63.3% were considered bad sleepers. There was no association between lifestyle variables and the MS components. In conclusion, high triglycerides, low HDL, sedentary lifestyle, and low sleep quality are crucial variables to consider in intervention programs aimed at training nutritionist, in keeping with the profession.

8.
Pensar mov ; 19(2)dic. 2021.
Artigo em Espanhol | SaludCR, LILACS | ID: biblio-1386769

RESUMO

Resumen Ortega Muñoz, A., Fumero Pérez, S. y Solano López, A.L. (2021). Autoeficacia, percepción de barreras y beneficios de la actividad física en estudiantes universitarios costarricenses. PENSAR EN MOVIMIENTO: Revista de Ciencias del Ejercicio y la Salud, 19(2), 1-17. Según la Teoría de Promoción de la Salud, aspectos como autoeficacia, percepción de beneficios y barreras podrían estar influyendo en la actividad física. En Costa Rica, se ha investigado poco este fenómeno en estudiantes universitarios de enfermería, por lo que el objetivo del estudio fue determinar la relación entre autoeficacia y percepción beneficios y barreras de la actividad física en estudiantes de Enfermería de la Universidad de Costa Rica. Esta investigación es un estudio de caso grupal, correlacional descriptivo. La muestra estuvo conformada por 42 estudiantes de segundo año de Enfermería. Los instrumentos utilizados fueron la Escala de Beneficios/Barreras para el ejercicio y la Escala de Autoeficacia para la actividad física. El análisis de datos se realizó mediante estadística descriptiva y la correlación de Pearson. Dentro de los resultados resalta que caminar obtuvo mayor autoeficacia, seguido de actividades de la vida diaria y, por último, el ejercicio físico programado. El estudiantado identifica más los beneficios de la actividad física que las barreras. Existe una asociación entre la autoeficacia total para la actividad física y la percepción de beneficios del ejercicio y la autoeficacia para el ejercicio programado y las barreras del ejercicio. Se debe trabajar en potenciar los beneficios de la actividad física, así como en crear intervenciones que ayuden a la población estudiantil de enfermería a superar las barreras por medio del fortalecimiento de la autoeficacia para la actividad física independientemente de su intensidad.


Abstract Ortega Muñoz, A., Fumero Pérez, S. & Solano López, A.L. (2021). Self-effectiveness and perception of barriers and benefits of physical activity in Costa Rican university students. PENSAR EN MOVIMIENTO: Revista de Ciencias del Ejercicio y la Salud, 19(2), 1-17. According to Health Promotion Theory, factors such as self-effectiveness and the perception of benefits and barriers might be impacting physical activity. Since this phenomenon has been scarcely researched among nursing students, the purpose of this study has been to determine the relationship between self-effectiveness and perceived benefits and barriers of physical activity among nursing students at Universidad de Costa Rica. This research is a correlational, descriptive group case study. The sample was made up by 42 second-year students of the School of Nursing. The instruments used were the Scale of Benefits/Barriers for Exercise and the Self-Effectiveness Scale for Physical Activity. Data analysis was carried out through descriptive statistics and Pearson's correlation. The most outstanding result was that walking showed higher self-effectiveness, followed by daily life activities and finally scheduled physical exercise. The student community identifies the benefits of physical activities more easily than the barriers. An association exists between total self-effectiveness for physical activity and the perception of benefits of exercise and self-effectiveness for scheduled exercise and the barriers of exercise. Efforts must be made in enhancing the benefits of physical activity, as well as in creating interventions that will help nursing students to overcome barriers by strengthening self-effectiveness for physical activity, regardless of its intensity.


Resumo Ortega Muñoz, A., Fumero Pérez, S. e Solano López, A.L. (2021). Autoeficácia, percepção de barreiras e benefícios da atividade física entre universitários costarriquenhos. PENSAR EN MOVIMIENTO: Revista de Ciencias del Ejercicio y la Salud, 19(2), 1-17. De acordo com a Teoria de Promoção da Saúde, aspectos como autoeficácia, percepção de benefícios e barreiras podem estar influenciando a atividade física. Na Costa Rica, pouca pesquisa tem sido feita em estudantes universitários de enfermagem, portanto, o objetivo do estudo foi determinar a relação entre a autoeficácia e a percepção dos benefícios e das barreiras da atividade física entre estudantes de enfermagem da Universidade da Costa Rica. Esta pesquisa é um estudo de caso em grupo correlacional descritivo. A amostra foi composta por 42 estudantes de enfermagem do segundo ano. Os instrumentos utilizados foram a Escala de Benefícios/Barreiras para o Exercício e a Escala de Autoeficácia para Atividade Física. A análise dos dados foi realizada por meio de estatística descritiva e correlação de Pearson. Dentre os resultados, destaca-se que a caminhada alcançou maior autoeficácia, seguida das atividades da vida diária e, por fim, exercício físico programado. Os estudantes identificam mais os benefícios da atividade física do que as barreiras. Existe uma associação entre a autoeficácia total para a atividade física e a percepção de benefícios do exercício e a autoeficácia para o exercício programado e as barreiras do exercício. Deve-se potencializar os benefícios da atividade física, bem como criar intervenções que ajudem a população estudantil de enfermagem a superar barreiras, fortalecendo a autoeficácia para a atividade física, independentemente da intensidade.


Assuntos
Humanos , Estudantes de Enfermagem , Exercício Físico , Autoeficácia , Costa Rica
9.
Sensors (Basel) ; 20(20)2020 Oct 17.
Artigo em Inglês | MEDLINE | ID: mdl-33080866

RESUMO

In recent years, research has focused on generating mechanisms to assess the levels of subjects' cognitive workload when performing various activities that demand high concentration levels, such as driving a vehicle. These mechanisms have implemented several tools for analyzing the cognitive workload, and electroencephalographic (EEG) signals have been most frequently used due to their high precision. However, one of the main challenges in implementing the EEG signals is finding appropriate information for identifying cognitive states. Here, we present a new feature selection model for pattern recognition using information from EEG signals based on machine learning techniques called GALoRIS. GALoRIS combines Genetic Algorithms and Logistic Regression to create a new fitness function that identifies and selects the critical EEG features that contribute to recognizing high and low cognitive workloads and structures a new dataset capable of optimizing the model's predictive process. We found that GALoRIS identifies data related to high and low cognitive workloads of subjects while driving a vehicle using information extracted from multiple EEG signals, reducing the original dataset by more than 50% and maximizing the model's predictive capacity, achieving a precision rate greater than 90%.


Assuntos
Algoritmos , Condução de Veículo , Eletroencefalografia , Carga de Trabalho , Cognição , Humanos , Aprendizado de Máquina
10.
Parasit Vectors ; 13(1): 518, 2020 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-33059758

RESUMO

BACKGROUND: Nowadays, Ehrlichia canis receives increasing attention because of its great morbidity and mortality in animals. Dogs in the subclinical and chronic phases can be asymptomatic, and serological tests show cross-reactivity and fail to differentiate between current and past infections. Moreover, there could be low parasitaemia, and E. canis might be found only in target organs, hence causing results to be negative by polymerase chain reaction (PCR) on blood samples. METHODS: We evaluated by PCR the prevalence of E. canis in blood, liver, spleen, lymph node and bone marrow samples of 59 recently euthanised dogs that had ticks but were clinically healthy. RESULTS: In total, 52.55% of the blood PCRs for E. canis were negative, yet 61.30% yielded positive results from tissue biopsies and were as follows: 63.15% from bone marrow; 52.63% from liver; 47.36% from spleen; and 15.78% from lymph node. In addition, 33% had infection in three tissues (spleen, liver and bone marrow). CONCLUSIONS: Our results show the prevalence of E. canis from tissues of dogs that were negative by blood PCR. Ehrlichia canis DNA in tissue was 30% lower in dogs that tested negative in PCR of blood samples compared to those that were positive. However, it must be taken into account that some dogs with negative results were positive for E. canis in other tissues.


Assuntos
Ehrlichia canis , Ehrlichiose/diagnóstico , Animais , Biópsia , Sangue/microbiologia , Medula Óssea/microbiologia , DNA Bacteriano , Testes Diagnósticos de Rotina/veterinária , Doenças do Cão/diagnóstico , Cães , Ehrlichia canis/genética , Ehrlichia canis/isolamento & purificação , Ehrlichiose/veterinária , Fígado/microbiologia , Patologia Molecular/métodos , Reação em Cadeia da Polimerase/veterinária , Prevalência , Baço/microbiologia
11.
Mil Med ; 185(5-6): e825-e830, 2020 06 08.
Artigo em Inglês | MEDLINE | ID: mdl-31783405

RESUMO

INTRODUCTION: Peripheral nerve injuries are a leading cause of disability within the Military Health System (MHS) patient population. Many peripheral nerve injuries (PNIs) are amenable to therapeutic intervention but require a timely diagnosis and prompt referral to a specialty center capable of intervention, as functional outcomes are directly related to the duration between injury and intervention. Even when appropriately identified, PNI management in the MHS is often challenged by the lack of an established pathway for care coordination and a limited awareness of available diagnostic and therapeutic resources. To address these potential shortcomings, the Walter Reed National Military Medical Center Peripheral Nerve Program (WRNMMC PNP) in Bethesda, MD, has been established to provide comprehensive, multidisciplinary care to peripheral nerve-injured patients across the MHS. Additionally, the WRNMMC PNP provides graduate medical education training in PNI management for multiple residency and fellowship programs, and it facilitates critical peripheral nerve research to advance knowledge within the field. MATERIALS AND METHODS: A retrospective review of all patients evaluated by the WRNMMC PNP between December 2015 and April 2019 was conducted in order to identify pertinent patient demographic information, referral patterns, and PNI etiology data. RESULTS: The WRNMMC PNP evaluated 356 patients consisting of active duty, dependents, retirees, and Veterans Affairs patients during the designated study period. These patients were referred by providers from more than nine different specialties from 78 commands across eight countries. The majority of these patients (222 patients) were referred for traumatic PNI. The WRNMMC PNP has also evaluated and treated patients with PNIs stemming from congenital and compressive etiologies. One hundred and one patients referred during this period were treated with surgery, while the remainder were managed through nonoperative means. CONCLUSIONS: The WRNMMC PNP facilitates comprehensive, patient-centered care for PNI patients within the MHS. Moreover, the program helps to prepare the next generation of providers for evaluating and treating PNI patients through its involvement with graduate medical education training. It also conducts critical peripheral nerve research and lays the foundation for collaborations with other institutions involved with peripheral nerve research. In the years ahead, the WRNMMC PNP aims to expand its outreach and capabilities within the MHS through more expansive use of telemedicine consultation and the establishment of satellite peripheral nerve clinic sites.


Assuntos
Serviços de Saúde Militar , Militares , Traumatismos dos Nervos Periféricos , Educação de Pós-Graduação em Medicina , Humanos , Traumatismos dos Nervos Periféricos/diagnóstico , Traumatismos dos Nervos Periféricos/terapia , Estudos Retrospectivos
12.
Rev. méd. hered ; 30(3): 178-182, jul.-sept. 2019. ilus
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1144774

RESUMO

La hiperoxaluria primaria tipo 2 es una enfermedad rara caracterizada por sobreproducción de oxalato por una deficiencia enzimática intrahepática, lo que lleva a litiasis renal, nefrocalcinosis y daño renal crónico. Varón de 17 años con antecedentes de infecciones urinarias, y litiasis renal desde los 6 años. Desarrolló insuficiencia renal crónica terminal a los 11 años ingresando a terapia de diálisis peritoneal crónica ambulatoria. Durante su evolución presentó dolor a nivel de la columna vertebral y grandes articulaciones como tobillos, rodillas y hombros, deformación progresiva de las articulaciones distales de las manos. La resonancia magnética de columna reporto aplastamiento de cuerpos vertebrales en D8 y D9. La biopsia ósea de vértebra mostró depósito de cristales de oxalato de calcio. El estudio genético confirmó el diagnóstico de hiperoxaluria primaria tipo 2, esta enfermedad debe sospecharse en niños que forman cálculos a temprana edad, sería el primer caso reportado en Perú.


Primary hyperoxaluria type 2 is a rare disease characterized by over production of oxalate due to a deficiency of an intra hepatic enzyme leading to renal lithiasis, nephrocalcinosis and chronic kidney damage. We report the case of 17-year-old male patients with history of urinary tract infections and renal lithiasis since the age of 6 years. The patient developed end-stage kidney disease at the age of 11 years receiving chronic ambulatory peritoneal dialysis. He developed back pain and polyarthralgia of the ankles, knees, shoulders and progressive deformity of the hands. The magnetic resonance of the spine revealed flattening of D9-D9. Bone biopsy of the affected area showed presence of calcium oxalate. A genetic study confirmed the diagnosis of primary hyperoxaluria type 2. This entity should be suspected in children with renal stones at an early age, this may be the first case in Peru.

13.
Rev. méd. hered ; 30(1): 40-44, ene.-mar. 2019. ilus
Artigo em Espanhol | LIPECS, LILACS | ID: biblio-1014344

RESUMO

El síndrome de Frasier es una enfermedad rara producida por la mutación del gen WT1, caracterizado por pseudohermafroditismo masculino, disgenesia gonadal 46XY y enfermedad glomerular. Reportamos el caso de una mujer de 18 años, diagnosticada a los 12 años de síndrome nefrótico con desarrollo precoz de enfermedad renal crónica terminal y requerimiento de diálisis. A los 17 años se le detectó una tumoración abdominal. La laparotomía exploratoria reveló tumoración anexada a la trompa derecha que se extendía hasta la pared posterior del útero. Se le realizó histerectomía abdominal total con salpingo-ooforectomía bilateral. El diagnóstico anátomo-patológico fue disgerminoma. La paciente tenía amenorrea primaria y ausencia de caracteres sexuales secundarios. El estudio de corpúsculo de Barr de células de mucosa bucal fue negativo para cromatina sexual y el cariotipo fue 46, XY (Disgenesia Gonadal). El estudio genético reportó mutación heterocigótica en el intrón 9 del gen WT1. El cuadro es compatible con síndrome de Frasier, primer caso reportado en Perú. (AU)


Frasier´s syndrome is a rare disease caused by a mutation in the WT1 gene and is characterized by male pseudo hermaphroditism, gonadal dysgenesis 46XY and glomerular disease. We report the case of an 18-year-old female patient diagnosed at the age of 12 years of age of nephrotic syndrome who rapidly progressed to chronic failure needing dialysis. At the age of 17-years of age she presented an abdominal tumor, a laparotomy revealed a tumor attached to the right fallopian tube. An hysterectomy with bilateral fallopian tube extirpation, pathological findings revealed a dysgerminoma. The patient had a history of primary amenorrhea and absence of secondary sexual features. The study of Barr´s corpuscle of the oral mucosa was negative for sexual chromatin and the karyotype was 46 XY (gonadal dysgenesis). The genetic study revealed heterozygous mutation in the 9 gene WT1. The clinical presentation is compatible with Frasier´s syndrome, fist time reported in Peru. (AU)


Assuntos
Humanos , Feminino , Adolescente , Disgerminoma , Síndrome de Frasier , Falência Renal Crônica
14.
Acta otorrinolaringol. cir. cuello (En línea) ; 47(2): 114-118, 2019. ilus, graf
Artigo em Espanhol | COLNAL, LILACS | ID: biblio-1094893

RESUMO

La Stenotrophomonas maltophilia es una bacteria oportunista que causa diversos tipos de infecciones asociadas con la atención sanitaria en pacientes debilitados, especialmente en aquellos que han recibido antimicrobianos de amplio espectro. La Stenotrophomonas maltophilia se posiciona hoy en día como un patógeno nosocomial de ámbito general, el cual se añade a otros multirresistentes como Staphylococcus aureus, Acinetobacter spp. y Pseudomonas aeruginosa. Presentamos este caso dado que es el primero que encontramos en nuestro servicio (el cual simula una infección recurrente por micobacterias) y con el objetivo de demostrar el protocolo utilizado para el diagnóstico y tratamiento. Este germen se reporta con poca frecuencia y todos los pacientes son inmunosuprimidos o con tratamiento antibiótico prolongado. Este agente infeccioso se debe considerar e incluir entre los diagnósticos diferenciales de conglomerados ganglionares abscedados. En pacientes con inmunosupresión sospechada o conocida es necesario descartar la presencia de microorganismos oportunistas, para poder proporcionarle un diagnóstico adecuado y un tratamiento específico.


Stenotrophomonas maltophilia is an opportunistic bacterium that can cause various types of infections associated with health care in debilitated patients, especially those who have previously received broad-spectrum antimicrobials. Stenotrophomonas maltophilia is positioned today as a nosocomial pathogen of general scope, such as adding other multiresistant Staphylococcus aureus, Acinetobacter spp. and Pseudomonas aeruginosa.We present this case because it is the first thing we find in our service (wich simulates a recurrent mycobacterial infection) and with the aim of demonstrating the protocol used in diagnosis and treatment. This germ is infrequently reported and all patients are immunosuppressed or with prolonged antibiotic treatment. This infectious agent should be considered and included in the differential diagnosis of lymph node abscessed conglomerates. In patients with suspected or known immunosuppression is necessary to rule out opportunistic organisms, to provide a proper diagnosis and specific treatment.


Assuntos
Humanos , Stenotrophomonas maltophilia , Hospedeiro Imunocomprometido , Linfonodos
16.
Rev. méd. hered ; 28(4): 254-257, oct.-dic. 2017. ilus
Artigo em Espanhol | LILACS, LIPECS | ID: biblio-991437

RESUMO

El nefroblastoma quístico parcialmente diferenciado, es una variante de tumor de Wilms, de presentación muy poco común, es quístico totalmente multilocular con tabicaciones finas que muestran en su interior cúmulos de elementos de blastema o epiteliales en diferenciación. Se manifiesta principalmente en menores de dos años. Se presenta el caso de un varón de 6 meses que desarrolló una tumoración renal derecha. Los hallazgos histopatológicos de la pieza extirpada por nefrectomía fueron: presentación de formaciones quísticas, con septos fibrovasculares que muestran tejido renal primitivo con presencia de túbulos y glomérulos en diferenciación sin efecto de masa. El diagnóstico final fue de nefroblastoma quístico parcialmente diferenciado. La evolución del paciente fue favorable. (AU)


Cystic partially differentiated nephroblastoma is a clinical variant presentation of Wilms tumor. It is very uncommon and it is composed of multiloculated cysts with fine trabecula containing epithelial cells in process of differentiation. It usually affects children below 2 years of age. We present the case of a 6-month male patient who presented with a right renal tumor. Pathological findings of the resected kidney showed cystic lesions with multiple fibro vascular septum that contained primitive tubular and glomerular kidney cells with no mass effect. The final diagnosis was cystic partially differentiated nephroblastoma. The clinical evolution was favorable. (AU)


Assuntos
Humanos , Masculino , Lactente , Tumor de Wilms , Cistos , Doenças Renais Císticas
17.
Genes Nutr ; 12: 19, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28690685

RESUMO

BACKGROUND: A polymorphism in a gene may exert its effects on multiple phenotypes. The aim of this study is to explore the association of 10 metabolic syndrome candidate genes with excess weight and adiposity and evaluate the effect of perinatal and socioeconomic factors on these associations. METHODS: The anthropometry, socioeconomic and perinatal conditions and 10 polymorphisms were evaluated in 1081 young people between 10 and 18 years old. Genotypic associations were calculated using logistic and linear models adjusted by age, gender, and pubertal maturation, and a genetic risk score (GRS) was calculated by summing the number of effect alleles. RESULTS: We found that AGT-rs699 and the IRS2-rs1805097 variants were significantly associated with excess weight, OR = 1.25 (CI 95% 1.01-1.54; p = 0.034); OR = 0.77 (CI 95% 0.62-0.96; p = 0.022), respectively. AGT-rs699 and FTO-rs17817449 variants were significantly and directly associated with body mass index (BMI) (p = 0.036 and p = 0.031), while IRS2-rs1805097 and UCP3-rs1800849 were significantly and negatively associated with BMI and waist circumference, correspondingly. Each additional effect allele in GRS was associated with an increase of 0.020 log(BMI) (p = 0.004). No effects from the socioeconomic and perinatal factors evaluated on the association of the candidate genes with the phenotypes were detected. CONCLUSIONS: Our observation suggests that AGT-rs699 and FTO-rs17817449 variants may contribute to the risk development of excess weight and an increase in the BMI, while IRS2-rs1805097 showed a protector effect; in addition, UCP3- rs1800849 showed a decreasing waist circumference. Socioeconomic and perinatal factors had no effect on the associations of the candidate gene.

18.
Birth Defects Res ; 109(8): 564-573, 2017 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-28398657

RESUMO

BACKGROUND: This investigation determines the nutritional state of serum and red blood cell (RBC) folate concentration and their relation with intake of folate, B6 ,and B12 , with serum vitamin B12 , and with genetic variants after provision of 400 µg/day of folic acid for 3 months to a group of 34 Colombian women of reproductive age. METHODS: We evaluated nutrient intake using 24-hr recall, assessing the levels of serum folate, RBC folate, serum B12 , and homocysteine, as well as determining genetic variants of the enzyme MTHFR (C677T and A1298C) and CßS (844ins68pb). RESULTS: The results show that following intake of 400 µg/day of folic acid, the risk of folate deficiency as seen in regular dietary intake disappears and the nutritional status of this nutrient is increased (p < 0.001). With respect to vitamin B12, the risk of serum deficiency with folic acid consumption increased slightly, and those that were found to be B12 deficient after supplementation also had decreased levels of serum homocysteine. Genetic factors did not influence the nutritional status of folate, although an association was found between the intake of nutrients and biochemical indicators. CONCLUSION: Given the results of our study, subsequent studies evaluating folic acid supplementation should also consider evaluating the status of B12 and B6 , and serum and RBC folate, as they participate interdependently in the cycle of folate and methionine and in homocysteine metabolism.Birth Defects Research 109:564-573, 2017.© 2017 Wiley Periodicals, Inc.


Assuntos
Ácido Fólico/administração & dosagem , Ácido Fólico/sangue , Estado Nutricional/efeitos dos fármacos , Deficiência de Vitamina B 12/sangue , Deficiência de Vitamina B 12/dietoterapia , Adulto , Fatores Etários , Suplementos Nutricionais , Feminino , Deficiência de Ácido Fólico/sangue , Humanos , Reprodução/fisiologia , Adulto Jovem
20.
Rev. chil. nutr ; 43(4): 336-345, dic. 2016. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-844484

RESUMO

Folate is an essential nutrient because mammals lack biological activity to synthesize. It different factors generate folate deficiency. Recent studies have identified that the C677T variant of the enzyme methylene tetrahydrofolate reductase (MTHFR), can play a role in serum folate concentrations (SFC) and red cell folate (RCF). The aim of this rewiev was to actualice some generalities of folate metabolism, factors related to its deficiency biochemical indicators used to assess the nutritional status of folate and role of the C677T polymorphism of the MTHFR enzyme on the cycle of folate and methionine. It is necessary to design studies with representative samples corroborating the effect of polymorphisms on biochemical indicators of nutritional status of folate and determine the dose-response effect and contribute to modify the nutritional recommendations with the necessary scientific evidence.


El folato es un nutriente esencial porque los mamíferos carecen de actividad biológica para sintetizarlo. Diferentes factores generar deficiencia de folato. Estudios recientes han identificado que la variante C677T de la enzima metilen tetrahidrofolato reductasa (MTHFR), puede jugar un papel en las concentraciones de folato sérico (FS) y eritrocitario (FE). El objetivo de este trabajo fue revisar algunas generalidades del folato, su metabolismo, los factores relacionados con su deficiencia, los indicadores bioquímicos utilizados para evaluar el estado nutricional del folato y el papel del polimorfismo C677T de la enzima MTHFR sobre el ciclo del folato y de la metionina. Es necesario diseñar estudios con muestras representativas que corroboren el efecto de los polimorfismos sobre los indicadores bioquímicos del estado nutricional del folato y determinar el efecto dosis-respuesta y así contribuir con la evidencia científica necesaria para modificar las recomendaciones nutricionales.


Assuntos
Humanos , Vitamina B 12 , Alimentos , Metilenotetra-Hidrofolato Redutase (NADPH2) , Enzimas
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