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1.
Int. j. morphol ; 38(1): 120-125, Feb. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1056408

ABSTRACT

En el mundo la obesidad es considerada una pandemia que provoca grandes cambios metabólicos, responsables de las llamadas enfermedades crónicas no transmisibles (ECNT), las cuales presentan un 60 % de mortalidad, según la Organización Mundial de la Salud (2016). En Chile el 75 % de la población adulta y el 50,9 % de la población estudiantil, muestran índices de masa corporal de sobrepeso y obesidad, con un nivel de sedentarismo general de 66,2 %. Los objetivos de este trabajo fueron determinar los perfiles antropométricos, riesgo metabólico y niveles de actividad física en profesores de enseñanza básica en un colegio particular subvencionado de Arica-Chile. El total de los profesores, 12 varones y 29 mujeres, fueron evaluados según: peso, talla, perímetro de cintura, índice cintura-talla (ICT), índice de masa corporal (IMC), masa grasa (MG), masa grasa visceral (MGV) y masa muscular (MM). A todos ellos se les calculó el riesgo metabólico según protocolos de Ashwell & Gibson (2016) y el IMC según fórmula de Quetelet. Para determinar los porcentajes de MG, MM y MGV, se utilizó instrumento de bioimpedancia eléctrica, Omron HBF-514C. Posteriormente se les aplicó una encuesta sobre nivel de actividad física (IPAQ). Los datos fueron analizados en estadístico IBM SPSS para tendencia central, dispersión, conteos y porcentajes. Para correlación se usó test de Pearson (r>0,5). Los resultados muestran que un 68,3 % de los profesores presenta sobrepeso y obesidad. El IMC y porcentaje de MGV son significativamente más alto en varones que en mujeres (30,6 ±7,0 / 26,9±4,6 y 11,2±5,6 / 7,6±2,5 respectivamente). El riesgo metabólico general de la población en estudio fue de 58,5 % (75 % y 51,7 % varones y mujeres respectivamente). Se observa una alta correlación entre IMC-MGV (0,84), IMC-ICT (0,84) y MM-MG (0,85). Respecto al nivel de actividad física, solo el 19,5 % de los profesores muestra un nivel de actividad física alto. Se concluye que los profesores presentan valores antropométricos alterados que indican altos índices de riesgos metabólicos y con bajos niveles de actividad física. Independientemente, las mujeres presentan mejores índices morfométricos en todos los parámetros en estudio respecto a los profesores varones. Existe una alta correlación (r) entre el índice de masa corporal y los porcentajes de masa de grasa visceral y el índice de de cintura talla. Se sugiere enfocar las intervenciones educativas según sello de vida saludable, incentivando la actividad física y mejorar los hábitos alimenticios en los profesores.


Obesity is considered a global pandemic that causes major metabolic changes. It is responsible for the so-called noncommunicable chronic diseases (NCDs), which report a 60 % mortality rate (WHO, 2017). In Chile, 63 % of the population shows body mass indexes (BMI) of overweight and obesity, with a sedentary level of 86.7 %. The objectives of this work were to determine the anthropometric profiles, metabolic risk, and physical activity levels in primary school teachers, in a subsidized school in Arica, Chile. The teachers (n=41), 12 men, and 29 women were evaluated according to weight, height, waist circumference (WC), waist-to-height index (WHI), BMI, Fat Mass (FM), Visceral Fat Mass (VFM) and Muscle Mass (MM). All of them were calculated for metabolic risk, according to Ashwell & Gibson protocols and BMI according to Quetelet's formula. To determine the percentages of FM, MM, and VFM, an electric bioimpedance instrument, Omron HBF-514C, was used. Subsequently, a survey of physical activity level (IPAQ) was applied. The data were analyzed in the IBM SPSS statistic for central tendency, dispersion, counts, and percentages. For correlation, Pearson's test (r> 0.5) was used. The results show that 68.3 % of teachers are overweight and obese. BMI and percentage of VFM are significantly higher in men than in women (30.6 ± 7.0 / 26.9 ± 4.6 and 11.2 ± 5.6 / 7.6 ± 2.5 respectively). The overall metabolic risk of the study population was 58.5 % (75 % and 51.7 % men and women, respectively). There is a high correlation between BMIVFM (0.84), BMI-WHI (0.84), MM-FM (0.85). Regarding the level of physical activity, only 19.5 % of teachers show a high level of physical activity. It is concluded that teachers have altered anthropometric values that indicate high rates of metabolic risks and low levels of physical activity. Regardless, women have better morphometric indexes in all parameters under study, compared to male teachers. There is a high correlation (r) between body mass index and percentages of visceral fat mass and waist height index. It is suggested to focus on educational interventions according to the healthy life seal, promoting physical activity, and improving eating habits in teachers.


Subject(s)
Humans , Male , Female , Adult , Body Composition , Risk Assessment , School Teachers , Metabolic Diseases/diagnosis , Body Mass Index , Chile , Adipose Tissue , Waist-Height Ratio
3.
Nutrire Rev. Soc. Bras. Aliment. Nutr ; 43: 1-8, Mar. 2018. tab
Article in English | LILACS | ID: biblio-881667

ABSTRACT

Background:The evidence that cardiovascular disease begins in childhood and adolescence, especially in the presence of excess weight, is associated with dysfunction on adipokine pro-inflammatory secretion. These affect glucose metabolism and lead to other complications related to insulin resistance and cardiovascular disease. This study assessed the association of anthropometric and metabolic parameters related to obesity, cardiovascular risk,and insulin resistance with concentrations of resistin and visfatin, in children. Methods: A cross-sectional study was developed with 178 children of 6­10 years old enrolled in public city schools. Anthropometric data, composition body, clinical, and biochemical were measured according to standard procedures. We used multiple regression models by stepwise method to evaluate the associations of resistin and visfatin with variables of interest.RESULTS: In healthy weight children, resistin was associated with LDL cholesterol, visfatin, atherogenic index, andwaist-to-height ratio, whereas in obese children resistin was associated with visfatin and interaction between conicity index and HOMA-AD. Furthermore, in healthy weight children, visfatin was associated to resistin and triceps skinfold thickness and negatively associated to HOMA-AD, while in obese ones visfatin was associated with waist-to-height ratio, atherogenic index, resistin, and interaction between trunk adiposity index and adiponectin and wasnegatively associated with the HOMA-IR index.CONCLUSIONS:Our study shows an association between anthropometric and biochemical variables related tovisceral fat and inflammation. These results suggest the resistin and visfatin as good pro-inflammatory markers. In addition, both adipokines are strongly related to central obesity, in children. In addition, both adipokines are strongly related to central obesity, in children.


Subject(s)
Humans , Male , Female , Child , Insulin Resistance , Metabolic Diseases/diagnosis , Nicotinamide Phosphoribosyltransferase/analysis , Obesity, Abdominal , Resistin/analysis
4.
Arq. bras. cardiol ; 109(3): 191-198, Sept. 2017. tab
Article in English | LILACS | ID: biblio-887922

ABSTRACT

Abstract Background: Little has been studied on heart rate and its relationship with metabolic disorders. Objective: To identify possible association between heart rate (HR) and metabolic disorders in children and adolescents. Methods: This cross-sectional study evaluated 2.098 subjects, aged between 7 and 17 years. The variables evaluated were: HR, systolic (SBP) and diastolic blood pressure (DBP), pulse pressure (PP), double-product (DP), myocardial oxygen consumption (mVO2), lipids, glucose and uric acid levels, body mass index (BMI) and waist circumference (WC). The values of HR at rest and effort were divided into quartiles. The association between continuous values of HR and cardiometabolic indicators was tested by linear regression. Results: LDL cholesterol presented a significantly higher mean (p = 0.003) in schoolchildren with resting HR greater or equal to 91 bpm, compared to students with less than 75 bpm. Compared with the quartiles of effort HR, SBP, DBP, glucose and uric acid presented high values when HR was greater or equal than 185 bpm. SBP, glucose and HDL cholesterol demonstrated a significant association with resting HR. Uric acid was observed as a predictor of increased effort HR. Conclusion: Schoolchildren with a higher resting HR have higher mean of LDL cholesterol. For effort HR, there was an increase in blood pressure, glucose and uric acid levels. Uric acid has been shown to be a predictor of elevated effort HR.


Resumo Fundamento: Pouco se tem estudado sobre frequência cardíaca e suas relações com alterações metabólicas. Objetivo: Verificar se existe associação entre frequência cardíaca e disfunções metabólicas em crianças e adolescentes. Método: Estudo transversal com 2.098 escolares, com idade entre 7 e 17 anos. As variáveis avaliadas foram: frequência cardíaca (FC), pressão arterial sistólica (PAS), diastólica (PAD) e de pulso (PP), duplo-produto (DP), consumo de oxigênio pelo miocárdio (mVO2), perfil lipídico e glicêmico, níveis de ácido úrico, índice de massa corporal (IMC) e circunferência da cintura (CC). Os valores de FC de repouso e esforço foram divididos em quartis. A associação entre os valores contínuos de FC com indicadores cardiometabólicos foi testada por meio da regressão linear. Resultados: O colesterol LDL apresentou média significativamente superior (p = 0,003) nos escolares com FC de repouso maior ou igual a 91 bpm, em comparação aos escolares que apresentaram menos de 75 bpm. Comparados com os quartis da FC de esforço, a PAS, PAD, glicose e ácido úrico apresentaram valores elevados quando a FC foi igual ou superior a 185 bpm. A PAS, a glicose e o colesterol HDL demonstraram associação significativa com a FC de repouso. Observou-se o ácido úrico como um preditor do aumento da FC de esforço. Conclusão: Escolares com FC de repouso mais elevada apresentam médias superiores de colesterol LDL. Para FC de esforço, observou-se elevação na pressão arterial, nos níveis de glicose e de ácido úrico. O ácido úrico demonstrou ser preditor da elevação da FC de esforço.


Subject(s)
Humans , Male , Female , Child , Adolescent , Rest/physiology , Physical Exertion/physiology , Metabolic Diseases/diagnosis , Uric Acid/blood , Blood Pressure/physiology , Biomarkers/blood , Cross-Sectional Studies , Glycemic Index/physiology , Heart Rate/physiology , Lipids/blood , Metabolic Diseases/physiopathology , Metabolic Diseases/blood
5.
Rev. bras. ter. intensiva ; 29(1): 111-114, jan.-mar. 2017.
Article in Portuguese | LILACS | ID: biblio-844278

ABSTRACT

RESUMO A rabdomiólise é um processo de destruição muscular com manifestações clínicas variáveis. Em pacientes pediátricos, tem como principal etiologia as doenças infecciosas. Apresentamos o caso de uma adolescente previamente saudável, que foi admitida ao nosso pronto-socorro com histórico de 4 dias com mialgia, fraqueza muscular e urina escura. Na avaliação inicial, apresentava-se desidratada. Os exames de sangue revelaram insuficiência renal aguda e aumento de enzimas musculares. A paciente foi transferida para nossa unidade de terapia intensiva pediátrica. Foi realizado tratamento clínico para correção da desidratação e das consequências iônicas e metabólicas da insuficiência renal. Em razão da oligúria, deu-se início à terapia de substituição renal. A investigação etiológica revelou um defeito da betaoxidação. Sabe-se que doenças metabólicas podem provocar rabdomiólise. A destruição muscular deve ser identificada precocemente, para evitar suas potenciais consequências. Em geral, o tratamento da rabdomiólise é conservador, embora em algumas situações seja necessária uma abordagem mais invasiva.


ABSTRACT Rhabdomyolysis is a process of muscle destruction that can present with varying clinical manifestations. In pediatric patients, its main etiology is infectious diseases. We present a previously healthy adolescent who was admitted to our emergency department with a four-day history of myalgia, muscle weakness and dark urine. At presentation, she was dehydrated. Blood analysis revealed acute renal failure and increased muscular enzymes. She was transferred to our pediatric intensive care unit. Medical therapies for correction of dehydration and the ionic and metabolic consequences of renal failure were performed. Due to oliguria, renal replacement therapy was initiated. An etiological investigation revealed a beta-oxidation defect. Metabolic diseases are a known cause of rhabdomyolysis. Muscular destruction should be diagnosed early in order to avoid its potential consequences. Generally, the treatment of rhabdomyolysis is conservative, although in some situations, a more invasive approach is needed.


Subject(s)
Humans , Female , Adolescent , Rhabdomyolysis/etiology , Acute Kidney Injury/diagnosis , Metabolic Diseases/diagnosis , Oliguria/etiology , Oliguria/therapy , Rhabdomyolysis/diagnosis , Renal Replacement Therapy , Acute Kidney Injury/therapy , Metabolic Diseases/complications
6.
Rev. latinoam. enferm. (Online) ; 25: e2885, 2017. tab, graf
Article in English | LILACS, BDENF | ID: biblio-845323

ABSTRACT

ABSTRACT Objective: to evaluate the usefulness of capnography for the detection of metabolic changes in spontaneous breathing patients, in the emergency and intensive care settings. Methods: in-depth and structured bibliographical search in the databases EBSCOhost, Virtual Health Library, PubMed, Cochrane Library, among others, identifying studies that assessed the relationship between capnography values and the variables involved in blood acid-base balance. Results: 19 studies were found, two were reviews and 17 were observational studies. In nine studies, capnography values were correlated with carbon dioxide (CO2), eight with bicarbonate (HCO3), three with lactate, and four with blood pH. Conclusions: most studies have found a good correlation between capnography values and blood biomarkers, suggesting the usefulness of this parameter to detect patients at risk of severe metabolic change, in a fast, economical and accurate way.


RESUMO Objetivo: avaliar a utilidade da capnografia para a detecção de alterações metabólicas em pacientes com respiração espontânea, no contexto das emergências e dos cuidados intensivos. Método: pesquisa bibliográfica estruturada aprofundada, nas bases de dados EBSCOhost, Biblioteca Virtual em Saúde, PubMed, Cochrane Library, entre outras, identificando estudos que avaliavam a relação entre os valores da capnografia e as variáveis envolvidas no equilíbrio ácido-base sanguíneo. Resultados: foram levantados 19 estudos, dois eram revisões e 17 eram estudos observacionais. Em nove estudos, os valores capnográficos foram correlacionados com o dióxido de carbono (CO2), em oito com o bicarbonato (HCO3), em três com o lactato, e em quatro com o pH sanguíneo. Conclusões: na maioria dos estudos foi observada uma correlação adequada entre os valores capnográficos e os biomarcadores sanguíneos, sugerindo a utilidade deste parâmetro para a identificação de pacientes com risco de sofrer uma alteração metabólica grave, de uma forma rápida, econômica e precisa.


RESUMEN Objetivo: explorar la utilidad de la capnografía para la detección de alteraciones metabólicas ante pacientes en respiración espontánea, en el ámbito de las emergencias y los cuidados críticos. Método: búsqueda bibliográfica estructurada en profundidad, en bases de datos EBSCOhost, Biblioteca Virtual de la Salud, PubMed, Cochrane Library, entre otras, identificando estudios que evaluaban la relación entre valores de la capnografía y variables implicadas en el equilibrio ácido-base sanguíneo. Resultados: se recopilaron 19 estudios, dos eran revisiones y 17 observacionales. En nueve estudios, se correlacionaron los valores capnográficos junto al dióxido de carbono (CO2), en ocho con el bicarbonato (HCO3), tres con el lactato, y cuatro con el pH sanguíneo. Conclusiones: la mayoría de estudios han obtenido una correlación adecuada entre los valores capnográficos y biomarcadores sanguíneos, sugiriendo la utilidad de este parámetro para la detección de pacientes en riesgo de padecer una alteración metabólica grave, de forma rápida, económica y precisa.


Subject(s)
Humans , Metabolic Diseases/diagnosis , Capnography/instrumentation , Emergency Treatment , Equipment Design
7.
Rev. Soc. Cardiol. Estado de Säo Paulo ; 26(3): 174-179, jul.-set. 2016. tab
Article in Portuguese | LILACS, SES-SP, SESSP-IDPCPROD, SES-SP | ID: biblio-832394

ABSTRACT

A hipercolesterolemia familiar (HF) é doença metabólica muito comum, mas não reconhecida e tratada adequadamente. Sua forma homozigótica, mais rara, leva a aumentos muito importantes do LDL-colesterol e à evolução dramática da aterosclerose e suas complicações em fases muito precoces da vida. Na sua forma mais branda, muito mais comum, a heterozigótica, o aparecimento de manifestações ateroscleróticas costuma ser mais tardio, dependendo da intensidade das alterações do perfil lipídico e dos outros fatores de risco eventualmente presentes. Os recursos terapêuticos para controle da HF vão desde as mudanças do estilo de vida até os medicamentos de uso comum como estatinas potentes em altas doses, na maioria das vezes combinadas à ezetimiba e/ou resina, niacina e fibratos. Novos produtos foram aprovados para uso em outros países, como a lomitapida e o mipomersen, mas apenas para a HF na forma homozigótica. Os inibidores da PCSK9 são importante esperança no controle desses pacientes. As pesquisas com os inibidores da CETP têm sido marcadas por decepções, mas um estudo clínico envolvendo um deles ainda está em andamento. Nosso país não dispõe da LDL-aférese, recurso que se tem mostrado fundamental para a melhora do prognóstico dos portadores das formas graves da HF


Familial hypercholesterolemia (FH) is a common metabolic disease, although not adequately recognized and treated. Its rarer, homozygous form leads to a significant increase in LDL-cholesterol and marked development of atherosclerosis and its complications in very early phases of life. In its milder, much more common, heterozygous form, the appearance of clinical manifestations usually occurs later, depending on the intensity of the changes in lipid profile and the presence of other risk factors. Therapeutic resources for FH control range from changes in lifestyle to medications commonly used as high potency statins in high dosages, in most cases combined with ezetimibe and/or resins, niacin and fibrates. New products have recently been approved for use in other countries such as lomitapide and mipomersen, but only for homozygous FH. PCSK9 inhibitors are an important hope for the control of these patients.Research with CETP inhibitors has failed to demonstrate clinical benefits to date, but a clinical study evaluating one of them is still ongoing. Our country does not have availability of LDL-apheresis, a resource that has proven fundamental for improving the prognosis of patients with more severe forms of FH


Subject(s)
Humans , Male , Female , Therapeutics/methods , Hyperlipoproteinemia Type II , Hypolipidemic Agents/therapeutic use , Primary Prevention/methods , Cardiovascular Diseases/prevention & control , Risk Factors , Drug Therapy/methods , Drug Therapy, Combination/methods , Life Style , Cholesterol, LDL/analysis , Cholesterol, LDL/blood , Metabolic Diseases/complications , Metabolic Diseases/diagnosis
8.
Article in English | WPRIM | ID: wpr-200500

ABSTRACT

BACKGROUND: A newborn screening (NBS) program has been utilized to detect asymptomatic newborns with inherited metabolic diseases (IMDs). There have been some bottlenecks such as false-positives and imprecision in the current NBS tests. To overcome these issues, we developed a multigene panel for IMD testing and investigated the utility of our integrated screening model in a routine NBS environment. We also evaluated the genetic epidemiologic characteristics of IMDs in a Korean population. METHODS: In total, 269 dried blood spots with positive results from current NBS tests were collected from 120,700 consecutive newborns. We screened 97 genes related to NBS in Korea and detected IMDs, using an integrated screening model based on biochemical tests and next-generation sequencing (NGS) called NewbornSeq. Haplotype analysis was conducted to detect founder effects. RESULTS: The overall positive rate of IMDs was 20%. We identified 10 additional newborns with preventable IMDs that would not have been detected prior to the implementation of our NGS-based platform NewbornSeq. The incidence of IMDs was approximately 1 in 2,235 births. Haplotype analysis demonstrated founder effects in p.Y138X in DUOXA2, p.R885Q in DUOX2, p.Y439C in PCCB, p.R285Pfs*2 in SLC25A13, and p.R224Q in GALT. CONCLUSIONS: Through a population-based study in the NBS environment, we highlight the screening and epidemiological implications of NGS. The integrated screening model will effectively contribute to public health by enabling faster and more accurate IMD detection through NBS. This study suggested founder mutations as an explanation for recurrent IMD-causing mutations in the Korean population.


Subject(s)
Computational Biology , DNA/chemistry , Dried Blood Spot Testing , Galactokinase , Genomics , Haplotypes , High-Throughput Nucleotide Sequencing , Humans , Incidence , Infant, Newborn , Membrane Proteins/genetics , Metabolic Diseases/diagnosis , Metabolism, Inborn Errors/diagnosis , Mitochondrial Membrane Transport Proteins/genetics , Neonatal Screening , Polymorphism, Genetic , Republic of Korea/epidemiology , Sequence Analysis, DNA
9.
Arq. neuropsiquiatr ; 73(4): 304-308, 04/2015. tab, graf
Article in English | LILACS | ID: lil-745749

ABSTRACT

Objective To describe the clinical activities at the Neuroimmunology Clinic of the Universidade Federal de São Paulo (UNIFESP) from 1994 to 2013. Method The final diagnosis of all patients that attended the center was reviewed and established upon specific guidelines for each disease. The number of total appointments and extra clinical activities (reports and prescriptions) were also analyzed, as are part of routine activities. Results 1,599 patients attended the Clinic from 1994 to 2013: 816 with multiple sclerosis (MS), 172 with clinical isolated syndromes, 178 with neuromyelitis optica (NMO), 216 with other demyelinating disease, 20 with metabolic disorder, 42 with a vascular disease and 155 with other or undetermined diagnosis. A mean 219 outpatient visits and 65 extra clinical activities were performed monthly. Conclusion We identified that 15% of patients seen have NMO. As patients with NMO have a more severe disease than MS, this data may be important for planning local health care policies. .


Objetivo Descrever a casuística de pacientes atendidos no setor de Neuroimunologia da Universidade Federal de São Paulo (UNIFESP) de 1994 a 2013. Método Analisamos o diagnóstico final de todos os pacientes atendidos de 1999 a 2013, sendo o diagnóstico revisado na última consulta e estabelecido de acordo com os critérios específicos para cada doença. O volume de atendimentos clínicos e não clínicos (relatórios e receitas) foram contabilizados para avaliar a carga de trabalho da equipe. Resultados 1.599 pacientes foram avaliados: 816 com esclerose múltipla (EM), 172 com síndromes clínicas isoladas, 178 com neuromielite óptica (NMO), 216 com outras doenças desmielinizantes, 20 com doenças metabólicas, 42 com doenças vasculares e 155 com outros diagnósticos ou diagnósticos indefinidos. Identificamos uma média de 219 consultas e 65 solicitações de relatórios por mês. Conclusão Identificamos que 15% dos pacientes atendidos tem NMO. Por ser uma doença mais incapacitante que a EM estes dados podem ser importantes para o planejamento de políticas de saúde locais. .


Subject(s)
Humans , Multiple Sclerosis/epidemiology , Neuromyelitis Optica/epidemiology , Age of Onset , Brazil/epidemiology , Cross-Sectional Studies , Demyelinating Diseases/diagnosis , Demyelinating Diseases/epidemiology , Hospitals, University/statistics & numerical data , Metabolic Diseases/diagnosis , Metabolic Diseases/epidemiology , Multiple Sclerosis/diagnosis , Neuromyelitis Optica/diagnosis , Time Factors , Vascular Diseases/diagnosis , Vascular Diseases/epidemiology
10.
Article in English | IMSEAR | ID: sea-159392

ABSTRACT

The mouth is a unique site, due to the presence of hard and soft tissues in close approximation. It serves in various purposes of speech, mastication and digestion. It is an important entry point for many pathogens in the body. Many systemic diseases manifest in the oral cavity and mouth can show early signs or the only signs of a disease process at a site elsewhere. As the mouth is an easily accessible site, the indicators it shows of various diseases should not be overlooked. A dentist thus can frequently be exposed to such conditions and play a key role in the diagnostic procedure of various systemic diseases. Appropriate knowledge of these oral manifestations is essential for early diagnosis, treatment and referral of cases.


Subject(s)
Endocrine System Diseases/diagnosis , Gastrointestinal Diseases/diagnosis , Hematologic Diseases/diagnosis , Humans , Metabolic Diseases/diagnosis , Mouth/pathology , Nutritional and Metabolic Diseases/diagnosis , Oral Manifestations/diagnosis , Oral Manifestations/epidemiology , Oral Manifestations/etiology , Rheumatic Heart Disease/diagnosis
11.
Article in English | WPRIM | ID: wpr-42468

ABSTRACT

Owing to the worldwide obesity epidemic and the sedentary lifestyle in industrialized countries, the number of people with metabolic diseases is explosively increasing. Magnetic resonance spectroscopy (MRS), which is fundamentally similar to magnetic resonance imaging, can detect metabolic changes in vivo noninvasively. With its noninvasive nature, 1H, 13C and 31P MRS are being actively utilized in clinical and biomedical metabolic studies to detect lipids and important metabolites without ionizing radiation. 1H MRS can quantify lipid content in liver and muscle and can detect other metabolites, such as 2-hydroxyglutarate, in vivo. Of interest, many studies have indicated that hepatic and intramyocellular lipid content is inversely correlated with insulin sensitivity in humans. Thus, lipid content can be utilized as an in vivo biomarker for detecting early insulin resistance. Employing 13C MRS, hepatic glycogen synthesis and breakdown can be directly detected, whereas 31P MRS provides in vivo adenosine triphosphate (ATP) synthesis rates by saturation transfer methods in addition to ATP content. These in vivo data can be very difficult to assess by other methods and offer a critical piece of metabolic information. To aid the reader in understanding these new methods, fundamentals of MRS are described in this review in addition to promising future applications of MRS and its limitations.


Subject(s)
Carbon-13 Magnetic Resonance Spectroscopy , Humans , Magnetic Resonance Imaging/methods , Magnetic Resonance Spectroscopy/methods , Metabolic Diseases/diagnosis , Phosphorus Isotopes , Protons
12.
Arch. argent. pediatr ; 112(4): 369-374, ago. 2014. tab
Article in Spanish | LILACS, BINACIS | ID: biblio-1159620

ABSTRACT

El aumento de las cifras de transaminasas séricas puede observarse en diferentes escenarios de la consulta médica cada vez con mayor frecuencia. Esto supone un desafío complejo para el pediatra dada la escasa información bibliográfica que existe sobre este tema. Desde el paciente completamente asintomático hasta el niño con signos de cronicidad, el espectro es muy variado y obliga a orientar rápida y eficientemente la investigación a fin de evitar costos y sufrimientos innecesarios para el paciente y su familia. El trabajo coordinado con el hepatólogo es recomendable en la mayoría de los casos.


The raising of serum transaminases is seen with increasing frequency in different scenarios from daily practice. This poses a complex challenge to the pediatrician owing to the scarcity of bibliographic information available on this topic. From the completely asymptomatic patient to the child with signs of chronic liver disease, the full spectrum is highly varied, compelling to guide the investigation efficiently, in order to avoid unnecessary costs and suffering to the patient and their family. Coordinated work with the hepatologist is advisable in most instances.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Transaminases/blood , Metabolic Diseases/diagnosis , Metabolic Diseases/enzymology , Metabolic Diseases/blood
14.
Indian J Biochem Biophys ; 2013 Oct; 50(5): 345-356
Article in English | IMSEAR | ID: sea-150244

ABSTRACT

Adenosine deaminase deficiency accounts for ~15-20% of severe combined immunodeficiency in humans. The gene for adenosine deaminase is located on chromosome 20q12-q13.11 and codes for an aminohydrolase that catalyzes the deamination of adenosine and deoxyadenosine to inosine and deoxyinosine, respectively. Absence of the enzyme causes a build-up of the substrates in addition to excess deoxyadenosine triphosphate, thereby compromising the regenerative capacity of the immune system. Due to underlying allelic heterogeneity, the disorder manifests as a spectrum, ranging from neonatal onset severe combined immunodeficiency to apparently normal partial adenosine deaminase deficiency. Tandem mass spectrometry coupled with high efficiency separation systems enables postnatal diagnosis of the disorder, while prenatal diagnosis relies on assaying enzyme activity in cultured amniotic fibroblasts or chorionic villi sampling. Screening of adenosine deaminase deficiency for relatives-at-risk may reduce costs of treatment and ensure timely medical intervention as applicable. This article reviews the genetic, biochemical and clinical aspects of adenosine deaminase deficiency.


Subject(s)
Adenosine Deaminase/deficiency , Genetic Heterogeneity , Humans , Metabolic Diseases/diagnosis , Metabolic Diseases/genetics , Metabolic Diseases/metabolism , Metabolic Diseases/therapy
15.
Rev. bras. cardiol. (Impr.) ; 25(5): 418-427, set.-out. 2012. tab
Article in Portuguese | LILACS | ID: lil-666578

ABSTRACT

Diversos estudos investigaram os efeitos do treinamento contínuo moderado em pacientes com insuficiência cardíaca (IC). Por sua vez, o treinamento intermitente(TI) tem se mostrado eficaz no tratamento desses sujeitos,uma vez que permite intensidades mais altas de exercício.No entanto, a intensidade ideal para se obter os melhores benefícios de um programa de treinamento ainda não está estabelecida. Nesse sentido, o objetivo do presente estudo foi revisar na literatura estudos que utilizaram oTI em pacientes com IC, resumir os achados desses estudos e identificar áreas para investigações futuras.Foram encontrados e analisados sete ensaios clínicos randomizados (ECR), envolvendo 417 pacientes (347homens). Todos os ECR indicaram melhoras em virtude do TI no programa de reabilitação dos pacientes com IC, e nenhum evento cardíaco foi registrado durante arealização dos exercícios. Apesar da grande variação encontrada no modelo de prescrição da intensidade do exercício, o TI parece ser uma estratégia interessante no processo de reabilitação dessa população. Mais investigações são necessárias para padronizar o modelo de prescrição e identificar qual, ou quais as intensidades mais adequadas para a prescrição de programa de treinamento físico ideal para pacientes com IC.


Many studies have investigated the effects of moderate continuous training for patients with heart failure. Intermittent training has also proven effective in the treatment of these subjects, as it allows higher intensity exercise. However, the optimal intensity for obtaining the greatest benefits from a training program has not yet been established. In this context, the purpose of this paperis to review the literature on studies using intermittent training in patients with heart failure, summarizing their findings and identifying areas for future research. Seven randomized controlled trials were found and analyzed,involving 417 patients (347 men). All the trials showed improvements resulting from intermittent training in there habilitation programs of patients with heart failure,with no cardiac events recorded during the exercises. Despite the wide variation in the exercise intensity prescription models in the studies, intermittent training seems to be an interesting strategy for the rehabilitation of this population. Further investigation is needed to standardize the prescription model and identify the most appropriate intensities for physical training programs working with heart failure patients.


Subject(s)
Humans , Male , Female , Cardiovascular Diseases/complications , Cardiovascular Diseases/mortality , Metabolic Diseases/complications , Metabolic Diseases/diagnosis , Aging/physiology , Menopause/physiology , Rats
16.
Acta bioquím. clín. latinoam ; 46(2): 195-203, jun. 2012. ilus, tab
Article in Spanish | LILACS | ID: lil-657442

ABSTRACT

La aplicación de la espectrometría de masas en tandem en el diagnóstico de los errores innatos del metabolismo ofrece la posibilidad de ampliar el número de enfermedades que son tamizadas durante el periodo neonatal. Esta tecnología permite detectar, con gran sensibilidad, especificidad y rapidez, más de 30 enfermedades metabólicas en un mismo ensayo a partir de un único disco de sangre seca sobre papel de filtro. Para esto se realiza el análisis combinado del perfil de aminoácidos y acilcarnitinas sin requerir, generalmente, de sistemas de cromatografía adicionales. El procesamiento analítico que actualmente se utiliza en los diferentes laboratorios de tamiz es relativamente homogéneo.


The use of tandem mass spectrometry in the diagnosis of inborn errors of metabolism has the potential to expand newborn screening programmes to include many different diseases. This technique can quickly detect, with great specificity and sensibility, more than 30 diseases using the same punch of dried blood in filter paper through the combined analysis of acylcarnitines and amino acid mass spectra profile. The detection of a particular disease this way could be made without the need of a chromatographic system. The analytical analyses in current use by different screening laboratories are very similar.


A aplicação da espectrometria de massas em tandem no diagnóstico dos erros inatos do metabolismo oferece a possibilidade de ampliar os programas de screening neonatal para incluir maior número de doenças. Esta tecnologia permite detectar, com grande sensibilidade, especificidade e rapidez, mais de 30 doenças metabólicas em um mesmo ensaio a partir de um único disco de sangue seco sobre papel de filtro. Para isso é realizada a análise combinada do perfil de aminoácidos e acilcarnitinas sem precisar, geralmente, de sistemas de cromatografia adicionais. O processamento analítico que atualmente è utilizado nos diferentes laboratórios de screening é relativamente homogêneo.


Subject(s)
Humans , Male , Female , Infant, Newborn , Metabolic Diseases/blood , Metabolic Diseases/diagnosis , Tandem Mass Spectrometry/methods , Amino Acids/analysis , Metabolism, Inborn Errors
17.
Pediatr. mod ; 48(1)jan. 2012.
Article in Portuguese | LILACS | ID: lil-661195

ABSTRACT

Análise da síndrome metabólica na criança e no adolescente, patologia cuja prevalência vem aumentando e com repercussão na idade adulta, impondo sua prevenção e controle desde a infância. O trabalho caracteriza a síndrome e estuda o papel de seus diversos componentes, abordando aspectos diagnósticos e terapêuticos.


Subject(s)
Humans , Male , Female , Child , Adolescent , Metabolic Diseases/diagnosis
18.
Clinics ; 67(5): 457-461, 2012. tab
Article in English | LILACS | ID: lil-626341

ABSTRACT

OBJECTIVE: To assess the presence of metabolic disorders in elderly men with urolithiasis. METHODS: We performed a case-control study. The inclusion criteria were as follows: (1) men older than 60 years of age and either (2) antecedent renal colic or an incidental diagnosis of urinary lithiasis after age 60 (case arm) or (3) no antecedent renal colic or incidental diagnosis of urolithiasis (control arm). Each individual underwent an interview, and those who were selected underwent all clinical protocol examinations: serum levels of total and ionized calcium, uric acid, phosphorus, glucose, urea, creatinine and parathyroid hormone, urine culture, and analysis of 24-hour urine samples (levels of calcium, citrate, creatinine, uric acid and sodium, pH and urine volume). Each case arm patient underwent two complete metabolic urinary investigations, whereas each control arm individual underwent one examination. ClinicalTrials.gov: NCT01246531. RESULTS: A total of 51 subjects completed the clinical investigation: 25 in the case arm and 26 in the control arm. In total, 56% of the case arm patients had hypocitraturia (vs. 15.4% in the control arm; p = 0.002). Hypernatriuria was detected in 64% of the case arm patients and in 30.8% of the controls (p = 0.017). CONCLUSION: Hypocitraturia and hypernatriuria are the main metabolic disorders in elderly men with urolithiasis.


Subject(s)
Aged , Aged, 80 and over , Humans , Male , Citrates/urine , Metabolic Diseases/diagnosis , Sodium/urine , Urolithiasis/urine , Analysis of Variance , Case-Control Studies , Logistic Models , Urinary Calculi/urine , Urolithiasis/complications
19.
Ciênc. saúde coletiva ; 16(9): 3901-3908, set. 2011. tab
Article in Portuguese | LILACS | ID: lil-600756

ABSTRACT

O objetivo do presente trabalho foi avaliar qual indicador antropométrico apresenta maior relação com as anormalidades metabólicas em participantes de um programa de Mudança de Estilo de Vida. Tratou-se de uma pesquisa do tipo exploratória, transversal e analítica, na qual foram avaliados 273 adultos e idosos (idade superior a 40 anos) quanto ao Índice de Massa Corporal (IMC), circunferência cintura (CC), por cento gordura corporal (GT) e por cento massa muscular ( por centoMM). Foi colhida amostra de sangue em jejum para dosagem de colesterol total e frações, triacilglicerol e glicose. Foram realizadas análises estatísticas para diferenciação entre os grupos e determinação de associações. O nível de significância adotado foi de p<0,05. Ao avaliar as anormalidades metabólicas como variável dependente e IMC, CC, GT, por centoMM como variáveis independentes, observamos que a CC foi o indicador antropométrico que mostrou melhor associação com todas as anormalidades metabólicas (p<0,0001), seguida da por centoMM. Conclui-se que as anormalidades metabólicas comumente associadas à obesidade apresentam como principal marcador de risco antropométrico a CC e não o IMC. Dado um mesmo valor de CC, sobrepesos e obesos apresentaram riscos à saúde comparáveis aos indivíduos eutróficos.


The purpose of this study was to determine which anthropometric indicator has the greatest bearing on the metabolic abnormalities in participants of a Lifestyle Change Program. It consisted of an exploratory, transversal and analytical survey, which assessed the body mass index (BMI), waist circumference (WC), percentage of body fat ( percentBF) and of muscle mass ( percentMM) of 273 adults and elderly subjects (over 40 years of age). Blood samples after an 8-hour diet were obtained to assess total cholesterol, high-density cholesterol, low-density cholesterol, triacylglycerol and glucose. Statistical analyses for differentiation between the groups and determination of associations were conducted. The level of significance was set at p<0.05. When the metabolic abnormalities were assessed as a dependent variable and BMI, WC, percentBF, percentMM as independent variables, it was seen that WC was the anthropometric indicator that showed the closest association with all metabolic abnormalities (P<0,0001), followed by percentMM. The conclusion reached was that WC rather than BMI was the main marker of anthropometric risk for metabolic abnormalities frequently related to obesity. Given the same WC value, overweight and obese individuals had comparable health risks to eutrophic individuals.


Subject(s)
Female , Humans , Male , Middle Aged , Body Weights and Measures , Metabolic Diseases/blood , Metabolic Diseases/diagnosis , Cross-Sectional Studies , Risk Factors
20.
Rev. Méd. Clín. Condes ; 22(5): 665-676, sept. 2011.
Article in Spanish | LILACS | ID: lil-677272

ABSTRACT

Abordamos algunas de las emergencias oncológicas (complicaciones agudas en el curso evolutivo del cáncer), con acento principal en el diagnóstico. Se tratan las más características, entre estas, las emergencias cardiovasculares (síndrome de Vena Cava superior, taponamiento cardiaco), las emergencias metabólicas (hipercalcemia, lisis tumoral) emergencias neurológicas (compresión medular, hipertensión endocraneana).


We approach some of the oncologic emergencies (acute complications in the evolution of Cancer), with emphasis in diagnosis. This article deals with the most typical ones, including cardiovascular emergencies (Superior Vena Cava Syndrome, Cardiac Tamponade); metabolic emergencies(Hypercalcemia, Tumor Lysis Syndrome) and neurologic emergencies (Spinal Cord Compression, Intracranial Hypertension).


Subject(s)
Humans , Neoplasms/complications , Neoplasms/diagnosis , Emergencies , Cardiovascular Diseases/diagnosis , Nervous System Diseases/diagnosis , Hematologic Diseases/diagnosis , Metabolic Diseases/diagnosis
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