ABSTRACT
Early life over-nutrition, as experienced in maternal obesity, is a risk factor for developing cardiorespiratory and metabolic diseases. Here we investigated the effects of high-fat diet (HFD) consumption on the breathing pattern and sympathetic discharge to blood vessels in juvenile offspring from dams fed with HFD (O-HFD). Adult female Holtzman rats were given a standard diet (SD) or HFD from 6 wk before gestation to weaning. At weaning (P21), the male offspring from SD dams (O-SD) and O-HFD received SD until the experimental day (P28-P45). Nerve recordings performed in decerebrated in situ preparations demonstrated that O-HFD animals presented abdominal expiratory hyperactivity under resting conditions and higher vasoconstrictor sympathetic activity levels. The latter was associated with blunted respiratory-related oscillations in sympathetic activity, especially in control animals. When exposed to elevated hypercapnia or hypoxia levels, the O-HFD animals mounted similar ventilatory and respiratory motor responses as the control animals. Hypercapnia and hypoxia exposure also increased sympathetic activity in both groups but did not reinstate the respiratory-sympathetic coupling in the O-HFD rats. In freely behaving conditions, O-HFD animals exhibited higher resting pulmonary ventilation and larger variability of arterial pressure levels than the O-SD animals due to augmented sympathetic modulation of blood vessel diameter. Maternal obesity modified the functioning of cardiorespiratory systems in offspring at a young age, inducing active expiration and sympathetic overactivity under resting conditions. These observations represent new evidence about pregnancy-related complications that lead to the development of respiratory distress and hypertension in children of obese mothers.NEW & NOTEWORTHY Maternal obesity is a risk factor for developing cardiorespiratory and metabolic diseases. This study highlights the changes on the breathing pattern and sympathetic discharge to blood vessels in juvenile offspring from dams fed with HFD. Maternal obesity modified the functioning of cardiorespiratory systems in offspring, inducing active expiration and sympathetic overactivity. These observations represent new evidence about pregnancy-related complications that lead to the development of respiratory distress and hypertension in children of obese mothers.
Subject(s)
Hypertension , Metabolic Diseases , Obesity, Maternal , Prenatal Exposure Delayed Effects , Respiratory Distress Syndrome , Humans , Child , Rats , Animals , Male , Female , Pregnancy , Diet, High-Fat/adverse effects , Obesity, Maternal/complications , Hypercapnia , Respiration , Obesity , Rats, Sprague-Dawley , Hypoxia/complications , Metabolic Diseases/complications , Respiratory Distress Syndrome/complications , Prenatal Exposure Delayed Effects/metabolismABSTRACT
Conocer la asociación específica de las enfermedades metabólicas en la mortalidad por COVID-19, ocurrida en México durante el año crítico de la pandemia de marzo 2020 a marzo 2021. Método. Se utilizó la base nacional de COVID-19 de la Dirección General de Epidemiología. Se analizaron los casos positivos que presentaron las enfermedades metabólicas: cardiovasculares, hipertensión, diabetes y obesidad. Se realizó un análisis descriptivo para conocer la distribución de los casos fallecidos y no fallecidos. Se empleó la prueba de ji cuadrada para la diferencia de las proporciones. Se utilizaron análisis de regresión logística para conocer la asociación entre las enfermedades metabólicas y la mortalidad por COVID-19 en personas positivas al virus SARS-CoV-2. Los datos fueron ajustados por edad y sexo. Resultados. Se observó la asociación de las enfermedades metabólicas en la mortalidad. La diabetes tuvo mayor porcentaje de letalidad 18,4%. Cuando se conjuntaron las enfermedades cardiovasculares y diabetes el porcentaje de letalidad subió a 31,5%; la conjunción de las enfermedades cardiovasculares, con hipertensión y diabetes fue la de mayor porcentaje de letalidad 38,7%. La obesidad fue la que tuvo menor incidencia. Conclusiones. Las enfermedades metabólicas en México son un problema de salud pública que afectó la mortalidad por covid-19. Es prioritario atender con políticas públicas preventivas y efectivas en favor de un modelo de consumo alimentario sano, acorde con las necesidades nutrimentales de la población(AU)
To know the specific association of metabolic disease on COVID-19 mortality, occurred during the critical year of the pandemic, from march 2020 to march 2021. Method: The Covid-19 national base of the General Directorate of Epidemiology was used. Positive cases of metabolic diseases were analyzed: cardiovascular disease, hypertension, diabetes and obesity. A descriptive analysis was carried out to find out the distribution of deceased and non-deceased cases. The chi-square test was used for the difference in proportions. Logistic regression analysis was used to understand the association between metabolic diseases and COVID 19 mortality in people who tested positive for the SARS-CoV-2 virus. The data were adjusted for age and gender. Results: The association of metabolic diseases on mortality was observed. Diabetes had a higher percentage of lethality 18,4%. When cardiovascular disease and diabetes were combined, the fatality rate rose to 31,5%; the combination of cardiovascular diseases, with hypertension and diabetes was the highest percentage of lethality 38,7%. Obesity had the least incidence. Conclusions: Metabolic diseases in México are a public health problem that affected COVID-19 mortality. It is a priority to deal with preventive and effective public policies in favor of a healthy food consumption model, in line with the nutritional needs of the population(AU)
Subject(s)
Humans , Male , Female , Cardiovascular Diseases/etiology , Diabetes Mellitus , Eating , COVID-19/mortality , Metabolic Diseases/complications , Metabolic Diseases/mortality , Obesity/physiopathology , Dietary Fats, Unsaturated , Epidemiology , Industrialized Foods , Pandemics , HypertensionABSTRACT
SHORT syndrome is a rare developmental disorder frequently associated with growth failure and insulin resistant diabetes mellitus (IRDM). Since GH has a diabetogenic effect, GH therapy has been regarded as a contraindication. We observed a Brazilian girl with SHORT syndrome who received GH therapy from 4 6/12 years of age for SGA short stature. GH dosage was increased from 0.23 to 0.36 mg/kg/week, but statural response to GH therapy remained poor. Her blood HbA1c level, though it remained 5.5-6.0% in childhood, began to elevate with puberty and increased to 9.2% at 10 6/12 years of age, despite the discontinuation of GH therapy at 9 11/12 years of age. Laboratory studies indicated antibody-negative IRDM. She was treated with metformin and canagliflozin (a sodium glucose co-transporter 2 (SGLT2) inhibitor), which ameliorated overt diurnal hyperglycemia and mild nocturnal hypoglycemia and reduced her blood HbA1c around 7%. Whole exome sequencing revealed a de novo heterozygous pathogenic variant (c.1945C>T:p.(Arg649Trp)) in PIK3R1 known as the sole causative gene for SHORT syndrome. Subsequent literature review for patients with molecularly confirmed SHORT syndrome revealed the development of IRDM in 10 of 15 GH-untreated patients aged ≥12 years but in none of three GH-treated and six GH-untreated patients aged ≤10 years. These findings imply a critical role of pubertal development and/or advanced age rather than GH therapy in the development of IRDM, and a usefulness of SGLT2 inhibitor in the treatment of IRDM.
Subject(s)
Diabetes Mellitus/diagnosis , Growth Disorders/complications , Hypercalcemia/complications , Insulin Resistance/physiology , Metabolic Diseases/complications , Nephrocalcinosis/complications , Brazil , Canagliflozin/administration & dosage , Child , Diabetes Complications/diagnosis , Diabetes Complications/drug therapy , Diabetes Mellitus/drug therapy , Diabetes Mellitus/metabolism , Drug Therapy, Combination , Female , Growth Disorders/diagnosis , Growth Disorders/drug therapy , Growth Disorders/metabolism , Human Growth Hormone/administration & dosage , Humans , Hypercalcemia/diagnosis , Hypercalcemia/drug therapy , Hypercalcemia/metabolism , Metabolic Diseases/diagnosis , Metabolic Diseases/drug therapy , Metabolic Diseases/metabolism , Metformin/administration & dosage , Nephrocalcinosis/diagnosis , Nephrocalcinosis/drug therapy , Nephrocalcinosis/metabolism , Puberty/drug effects , Puberty/metabolism , Sodium-Glucose Transporter 2 Inhibitors/administration & dosageABSTRACT
INTRODUCTION: Non-alcoholic fatty liver disease (NAFLD) affects ~25% of world population and cases have increased in recent decades. These anomalies have several etiologies; however, obesity and metabolic dysfunctions are the most relevant causes. Despite being considered a public health problem, no effective therapeutic approach to treat NAFLD is available. For that, a deep understanding of metabolic routes that support hepatic diseases is needed. AREAS COVERED: This review covers aspects of the onset of NAFLD. Thereby, biochemistry routes as well as cellular and metabolic effects of the gut microbiota in body's homeostasis and epigenetics are contextualized. EXPERT OPINION: Recently, the development of biological sciences has generated innovative knowledge, bringing new insights and perspectives to clarify the systems biology of liver diseases. A detailed comprehension of epigenetics mechanisms will offer possibilities to develop new therapeutic and diagnostic strategies for NAFLD. Different epigenetic processes have been reported that are modulated by the environment such as gut microbiota, suggesting strong interplays between cellular behavior and pathology. Thus, a more complete description of such mechanisms in hepatic diseases will help to clarify how to control the establishment of fatty liver, and precisely describe molecular interplays that potentially control NAFLD.
Subject(s)
Lipid Metabolism/physiology , Liver/physiopathology , Metabolic Diseases/physiopathology , Non-alcoholic Fatty Liver Disease/physiopathology , Epigenomics , Gastrointestinal Microbiome/physiology , Humans , Metabolic Diseases/complications , Non-alcoholic Fatty Liver Disease/etiology , Non-alcoholic Fatty Liver Disease/genetics , Obesity/complications , Obesity/physiopathologyABSTRACT
PURPOSE: Knowledge of adolescent and adult phenotypes of women with polycystic ovary syndrome (PCOS) might drive opportune management. The aim of this study was to compare metabolic and obesity biomarkers between adolescent and adult women with PCOS. METHODS: This observational study compared biomarkers of obesity and metabolism derangements between adolescent (n = 62) and adult (n = 248) women with PCOS. Predictors of metabolic syndrome (MS) were investigated using univariate and multivariate binary logistic regression analysis. RESULTS: The postmenarcheal age of adolescents was 4.9 ± 0.03 years. Systolic blood pressure was lower in adolescents than in adults (112.3 mmHg vs 117.0 mmHg, p = 0.001) Diastolic blood pressure was also lower in adolescents (70.7 mmHg vs 75.8 mmHg, p < 0.001). Glucose intolerance (12.0% vs 19.3%) and insulin resistance (18.2% vs 17.7%) were similar in both groups (p > 0.05, for comparisons). Impaired fasting glucose was lower in adolescents (1.8% vs 11.6%, p = 0.015). Total cholesterol and low-density lipoprotein cholesterol were lower in adolescents (p < 0.001). MS in adolescents and adults were found in 10.3% and 27.8%, respectively (p = 0.005). Visceral adiposity index (VAI) was a good predictor of MS in both adolescents (OR = 12.2), and adults (OR = 9.7). CONCLUSIONS: Most biomarkers of glucose metabolism abnormalities were similar in adolescents and adults with PCOS. The prevalence of MS was lower in adolescents. VAI was a strong predictor of metabolic syndrome, both in adolescent and adult women with PCOS.
Subject(s)
Blood Glucose/metabolism , Metabolic Diseases/complications , Metabolic Syndrome/etiology , Obesity/complications , Polycystic Ovary Syndrome/complications , Adolescent , Adult , Biomarkers/blood , Body Mass Index , Cholesterol, LDL/blood , Female , Glucose Intolerance , Glucose Tolerance Test , Humans , Insulin/blood , Insulin Resistance , Metabolic Diseases/blood , Metabolic Diseases/epidemiology , Metabolic Syndrome/blood , Metabolic Syndrome/epidemiology , Obesity/blood , Obesity/epidemiology , Polycystic Ovary Syndrome/blood , Polycystic Ovary Syndrome/epidemiology , Young AdultABSTRACT
Abstract Background Patient self-report is the most common diagnostic tool in the literature to detect HIV/HAART-associated lipodystrophy. However, data on the association of cardiovascular risk factors with HIV/HAART-associated lipodystrophy assessed by self-report are still missing. Objectives To determine the prevalence of self-reported HIV/HAART-associated lipodystrophy and to identify independent associations between traditional modifiable cardiovascular risk factors and self-reported lipodystrophy. Methods We conducted a retrospective observational study at an outpatient infectious disease clinic in the Central-West of Brazil to identify the association between traditional modifiable cardiovascular risk factors and self-reported lipodystrophy. Sedentary lifestyle, smoking status, family history of cardiovascular disease, hypertension, diabetes, dyslipidemia, increased waist circumference and overweight were the cardiovascular risk factors assessed. Self-reported HIV/HART-associated lipodystrophy was categorized as: mild (noticeable by patients' close inspection), moderate (easily noticeable by patient and physician) or severe (readily noticeable by a casual observer). Prevalence ratio (PR) and 95% confidence interval (CI95%) were calculated. Multivariate Poisson's regression was used to analyze factors associated to HIV/HAART-associated lipodystrophy assessed by self-report considering a significance level of 5%. Results A total of 183 patients were included, with a mean age of 39.3±10.9 years. Most of the sample were male (77.6%), non-white (50.8%) and single (53.0%). The overall prevalence of HIV/HAART-associated lipodystrophy was 52.5% (95% CI 44.96 - 59.88). Severe lipodystrophy was observed in more than half patients (55.2%). No traditional modifiable cardiovascular risk factor was independently associated with lipodystrophy. Female sex (PR 1.49; 95% CI 1.15 - 1.95; p =0.003), time of HIV infection diagnosis of 1-3 years (PR 1.83; 95% CI 1.09 - 3.08; p =0.002) and a positive family history of CVD (PR 1.62; 95% CI 1.11 - 2.36; p <0.001) were independently associated with lipodystrophy. Conclusion HIV/HAART-associated lipodystrophy assessed by patient self-report was not associated with traditional modifiable cardiovascular risk factors. Int J Cardiovasc Sci. 2020; [online].ahead print, PP.0-0
Subject(s)
Humans , Male , Female , Adult , Middle Aged , HIV-Associated Lipodystrophy Syndrome/complications , Heart Disease Risk Factors , Cardiovascular Diseases/complications , Prevalence , Retrospective Studies , Acquired Immunodeficiency Syndrome/complications , Antiretroviral Therapy, Highly Active/adverse effects , HIV-Associated Lipodystrophy Syndrome/epidemiology , Metabolic Diseases/complicationsABSTRACT
Leukotrienes (LTs) are potent lipid mediators that exert a variety of functions, ranging from maintaining the tone of the homeostatic immune response to exerting potent proinflammatory effects. Therefore, LTs are essential elements in the development and maintenance of different chronic diseases, such as asthma, arthritis, and atherosclerosis. Due to the pleiotropic effects of LTs in the pathogenesis of inflammatory diseases, studies are needed to discover potent and specific LT synthesis inhibitors and LT receptor antagonists. Even though most clinical trials using LT inhibitors or antagonists have failed due to low efficacy and/or toxicity, new drug development strategies are driving the discovery for LT inhibitors to prevent inflammatory diseases. A newly important detrimental role for LTs in comorbidities associated with metabolic stress has emerged in the last few years and managing LT production and/or actions could represent an exciting new strategy to prevent or treat inflammatory diseases associated with metabolic disorders. This review is intended to shed light on the synthesis and actions of leukotrienes, the most common drugs used in clinical trials, and discuss the therapeutic potential of preventing LT function in obesity, diabetes, and hyperlipidemia.
Subject(s)
Comorbidity , Leukotriene Antagonists/therapeutic use , Leukotrienes/metabolism , Metabolic Diseases/complications , Metabolic Diseases/prevention & control , Stress, Physiological , Asthma , Atherosclerosis , HumansABSTRACT
Early hospital readmission (EHR), defined as all readmissions within 30 days of initial hospital discharge, is a health care quality measure. It is influenced by the demographic characteristics of the population at risk, the multidisciplinary approach for hospital discharge, the access, coverage, and comprehensiveness of the health care system, and reimbursement policies. EHR is associated with higher morbidity, mortality, and increased health care costs. Monitoring EHR enables the identification of hospital and outpatient healthcare weaknesses and the implementation of corrective interventions. Among kidney transplant recipients in the USA, EHR ranges between 18 and 47%, and is associated with one-year increased mortality and graft loss. One study in Brazil showed an incidence of 19.8% of EHR. The main causes of readmission were infections and surgical and metabolic complications. Strategies to reduce early hospital readmission are therefore essential and should consider the local factors, including socio-economic conditions, epidemiology and endemic diseases, and mobility.
Subject(s)
Kidney Transplantation/adverse effects , Kidney Transplantation/mortality , Kidney Transplantation/statistics & numerical data , Patient Readmission/statistics & numerical data , Adult , Brazil/epidemiology , Delivery of Health Care/economics , Female , Follow-Up Studies , Graft Survival , Humans , Incidence , Infections/complications , Infections/epidemiology , Insurance, Health, Reimbursement/legislation & jurisprudence , Interdisciplinary Communication , Kidney Transplantation/economics , Male , Metabolic Diseases/complications , Metabolic Diseases/epidemiology , Middle Aged , Patient Discharge , Patient Readmission/economics , Patient Readmission/trends , Postoperative Complications/epidemiology , Risk Factors , Transplant Recipients/statistics & numerical dataABSTRACT
OBJECTIVE: To verify the association of obesity and infertility related to anovulatory issues. METHODS: This case-control study was carried out with 52 women, aged 20 to 38 years, divided into two groups (infertile - cases - and fertile - control), seen at outpatient clinics, in the period from April to December, 2017. RESULTS: We found significant evidence that obesity negatively affects women's fertility (p=0.017). The group of infertile women was 7.5-fold more likely to be obese than fertile women. CONCLUSION: Strategies that encourage weight control are indicated for women with chronic anovulation, due to hight metabolic activity of adipose tissue.
Subject(s)
Anovulation/etiology , Infertility, Female/etiology , Obesity/complications , Adult , Anovulation/metabolism , Anovulation/physiopathology , Anthropometry , Case-Control Studies , Exercise/physiology , Female , Humans , Infertility, Female/metabolism , Infertility, Female/physiopathology , Metabolic Diseases/complications , Metabolic Diseases/physiopathology , Obesity/metabolism , Obesity/physiopathology , Risk Factors , Sedentary Behavior , Surveys and Questionnaires , Young AdultABSTRACT
In recent years, the vascular endothelium has gained attention as a key player in the initiation and development of pregnancy disorders. Endothelium acts as an endocrine organ that preserves the homeostatic balance by responding to changes in metabolic status. However, in metabolic disorders, endothelial cells adopt a dysfunctional function, losing their normal responsiveness. During pregnancy, several metabolic changes occur, in which endothelial function decisively participates. Similarly, when pregnancy metabolic disorders occur, endothelial dysfunction plays a key role in pathogenesis. This review outlines the main findings regarding endothelial dysfunction in three main metabolic pathological conditions observed during pregnancy: gestational diabetes, hypertensive disorders, and obesity and hyperlipidemia. Organ, histological and cellular characteristics were thoroughly described. Also, we focused in discussing the underlying molecular mechanisms involved in the cellular signaling pathways that mediate responses in these pathological conditions.
Subject(s)
Endothelial Cells/metabolism , Endothelium, Vascular/metabolism , Metabolic Diseases/metabolism , Pregnancy Complications/metabolism , Animals , Diabetes, Gestational/metabolism , Eclampsia/metabolism , Endothelial Cells/pathology , Endothelium, Vascular/pathology , Female , Homeostasis , Humans , Hyperlipidemias/complications , Hyperlipidemias/metabolism , Hypertension, Pregnancy-Induced/metabolism , Lipids/blood , Metabolic Diseases/complications , Metabolic Diseases/genetics , Obesity, Maternal/complications , Obesity, Maternal/metabolism , Pre-Eclampsia/metabolism , Pregnancy , Pregnancy Complications/genetics , Pregnancy Complications/pathology , Signal TransductionABSTRACT
ABSTRACT Objective To verify the association of obesity and infertility related to anovulatory issues. Methods This case-control study was carried out with 52 women, aged 20 to 38 years, divided into two groups (infertile − cases − and fertile − control), seen at outpatient clinics, in the period from April to December, 2017. Results We found significant evidence that obesity negatively affects women's fertility (p=0.017). The group of infertile women was 7.5-fold more likely to be obese than fertile women. Conclusion Strategies that encourage weight control are indicated for women with chronic anovulation, due to hight metabolic activity of adipose tissue.
RESUMO Objetivo Verificar em mulheres a associação entre obesidade e infertilidade relacionada a questões anovulatórias. Métodos Estudo de caso-controle com 52 mulheres, de 20 a 38 anos, divididas em dois grupos (mulheres inférteis − casos − e férteis − controles), atendidas em ambulatórios, no período de abril a dezembro de 2017. Resultados Verificou-se evidência significativa de que a obesidade afeta negativamente na fertilidade das mulheres (p=0,017). O grupo de mulheres inférteis teve 7,5 vezes mais chances de serem obesas quando comparadas às mulheres férteis. Conclusão Estratégias que estimulem o controle do peso são indicadas para mulheres com anovulação crônica devido à elevada atividade metabólica do tecido adiposo.
Subject(s)
Humans , Female , Adult , Young Adult , Infertility, Female/etiology , Anovulation/etiology , Obesity/complications , Exercise/physiology , Case-Control Studies , Anthropometry , Surveys and Questionnaires , Risk Factors , Sedentary Behavior , Infertility, Female/physiopathology , Infertility, Female/metabolism , Anovulation/physiopathology , Anovulation/metabolism , Metabolic Diseases/complications , Metabolic Diseases/physiopathology , Obesity/physiopathology , Obesity/metabolismABSTRACT
Neurometabolic diseases that manifest seizures and epilepsy are a large group of inherited disorders. They can present at any age from the neonatal period to adolescence. The epileptic manifestations can be very varied and, in general, they are epilepsies refractory to antiepileptic drugs. Epileptic phenomenology does not contribute to the diagnosis. The inborn errors of metabolism that respond to the use of cofactors should be known. In acute decompensation, it is essential to provide nutritional, hydroelectrolytic and respiratory support. It is possible that in a few years we can detect the metabolomic profile of these diseases, thus knowing better the diagnosis non-invasively and offering greater therapeutic possibilities for their epilepsy and especially for the underlying disease. We must not forget the transitory metabolic disorders and the electrolyte imbalances within the causes of seizures, especially in the neonatal period, and must be identified and treated early to avoid major damages.
Las enfermedades neurometabólicas que manifiestan convulsiones y epilepsia constituyen un amplio grupo de trastornos hereditarios. Se pueden presentar a cualquier edad desde el período neonatal hasta la adolescencia. Las manifestaciones epilépticas pueden ser muy variadas y, en general, se trata de epilepsias refractarias a los fármacos antiepilépticos. La fenomenología epiléptica no contribuye al diagnóstico. Se deben conocer los errores innatos del metabolismo que responden al empleo de cofactores. En descompensaciones agudas es fundamental dar soporte nutricional, hidroelectrolítico y respiratorio. Es muy posible que en pocos años se pueda conocer el perfil metabolómico de estas enfermedades y así profundizar en el diagnóstico no invasivo y ofrecer mayores posibilidades terapéuticas para la epilepsia y especialmente para la enfermedad de base. No debemos olvidar los desórdenes metabólicos transitorios y los desequilibrios hidroelectrolíticos dentro de las causas de las convulsiones, en especial en el período neonatal, que se deben identificar y tratar precozmente para evitar daños mayores.
Subject(s)
Epilepsy/etiology , Metabolic Diseases/complications , Electroencephalography , Epilepsy/diagnosis , Epilepsy/therapy , Humans , Infant, Newborn , Seizures/classification , Seizures/etiology , Seizures/therapyABSTRACT
Las enfermedades neurometabólicas que manifiestan convulsiones y epilepsia constituyen un amplio grupo de trastornos hereditarios. Se pueden presentar a cualquier edad desde el período neonatal hasta la adolescencia. Las manifestaciones epilépticas pueden ser muy variadas y, en general, se trata de epilepsias refractarias a los fármacos antiepilépticos. La fenomenología epiléptica no contribuye al diagnóstico. Se deben conocer los errores innatos del metabolismo que responden al empleo de cofactores. En descompensaciones agudas es fundamental dar soporte nutricional, hidroelectrolítico y respiratorio. Es muy posible que en pocos años se pueda conocer el perfil metabolómico de estas enfermedades y así profundizar en el diagnóstico no invasivo y ofrecer mayores posibilidades terapéuticas para la epilepsia y especialmente para la enfermedad de base. No debemos olvidar los desórdenes metabólicos transitorios y los desequilibrios hidroelectrolíticos dentro de las causas de las convulsiones, en especial en el período neonatal, que se deben identificar y tratar precozmente para evitar daños mayores.
Neurometabolic diseases that manifest seizures and epilepsy are a large group of inherited disorders. They can present at any age from the neonatal period to adolescence. The epileptic manifestations can be very varied and, in general, they are epilepsies refractory to antiepileptic drugs. Epileptic phenomenology does not contribute to the diagnosis. The inborn errors of metabolism that respond to the use of cofactors should be known. In acute decompensation, it is essential to provide nutritional, hydroelectrolytic and respiratory support. It is possible that in a few years we can detect the metabolomic profile of these diseases, thus knowing better the diagnosis non-invasively and offering greater therapeutic possibilities for their epilepsy and especially for the underlying disease. We must not forget the transitory metabolic disorders and the electrolyte imbalances within the causes of seizures, especially in the neonatal period, and must be identified and treated early to avoid major damages.
Subject(s)
Humans , Infant, Newborn , Epilepsy/etiology , Metabolic Diseases/complications , Seizures/classification , Seizures/etiology , Seizures/therapy , Electroencephalography , Epilepsy/diagnosis , Epilepsy/therapyABSTRACT
Indications for liver transplantation (LT) in metabolic disease are evolving. We reviewed the US experience with primary LT for metabolic disease in the Scientific Registry for Transplant Recipients (October 1987 to June 2017) to determine the following: temporal changes in indications, longterm outcomes, and factors predicting survival. Patients were grouped by the presence of structural liver disease (SLD) and whether the defect was confined to the liver. There were 5996 patients who underwent LT for metabolic disease, 2354 (39.3%) being children. LT for metabolic disease increased in children but not in adults. Children experienced a 6-fold increase in LT for metabolic disease without SLD. Indications for LT remained stable in adults. Living donor liver transplantation increased between era 1 and era 3 from 5.6% to 7.6% in children and 0% to 4.5% in adults. Patient and graft survival improved with time. The latest 5-year patient survival rates were 94.5% and 81.5% in children and adults, respectively. Outcomes were worse in adults and in those with extrahepatic disease (P < 0.01), whereas SLD did not affect outcomes. Survival improved with younger age at LT until age <2 years. On multivariate analysis, diagnostic category, inpatient status, age at LT, and transplant era significantly predicted outcomes in all ages with male sex predicting survival in childhood only. Children without structural disease were less likely to die awaiting LT and had improved post-LT survival compared with children with chronic liver disease. In conclusion, LT for metabolic disease is increasingly used for phenotypic correction in children; extrahepatic manifestations significantly impact survival at all ages; where indicated, transplantation should not be unnecessarily delayed; and the development of new allocation models may be required.
Subject(s)
End Stage Liver Disease/surgery , Liver Transplantation/trends , Metabolic Diseases/surgery , Patient Selection , Adult , Age Factors , Child , Child, Preschool , End Stage Liver Disease/etiology , End Stage Liver Disease/mortality , Female , Graft Survival , Humans , Kaplan-Meier Estimate , Liver Transplantation/standards , Liver Transplantation/statistics & numerical data , Male , Metabolic Diseases/complications , Metabolic Diseases/mortality , Middle Aged , Registries/statistics & numerical data , Retrospective Studies , Survival Rate , Survivors/statistics & numerical data , Time Factors , Treatment Outcome , United States/epidemiologyABSTRACT
PURPOSE OF REVIEW: We provide a review of the movement disorders that complicate selected metabolic disorders, including the abnormal movements that may appear during or after their treatment. RECENT FINDINGS: Movement disorders may be underrecognized when arising in the context of a broad range of metabolic disorders. Abnormal movements may occur as the initial manifestation of a systemic disease, at any time during its course, or as a result of the medical interventions required for its management. Ascertaining movement phenomenology in acute and subacute presentations may assist in the determination of the specific underlying metabolic disorder. The management of movement disorders associated with metabolic disorders depends on the underlying pathophysiology.
Subject(s)
Metabolic Diseases/complications , Movement Disorders/etiology , Dyskinesias , HumansABSTRACT
Objectives To evaluate whether age at menarche and time to menstrual regularity were related to cardio-metabolic risk factors in Mexican women. Methods The study population comprised 54,921 women from the 2008-2010 wave of the Mexican Teacher's Cohort. A modified Poisson approach was used; exposures were age at menarche and time to menstrual regularity (< 1 year vs. ≥1 year), and outcomes were prevalent obesity, type 2 diabetes, high blood pressure, and high cholesterol. Results Mean (SD) age of women was 42.1 (7.6) years, and mean (SD) menarcheal age was 12.5 (1.5) years. Compared to women with menarche age 13 years, those with menarche < 9 years had a 65% (95% CI 43-90%); 27% (95% CI 4-55%); and 23% (95% CI 1-49%) higher prevalence of obesity, high blood pressure, and high cholesterol, respectively. For diabetes, there was a U-shaped association; compared to menarche age 13 years, those with menarche < 9 years had an 89% higher prevalence of diabetes (95% CI 39-156%), and those with menarche ≥ 17 years had a 65% higher prevalence (95% CI 16-134%). Among women with regular cycles (n = 43,113), a longer time to menstrual regularity was associated with diabetes (PR = 1.11 with 95% CI 1.02-1.22), high blood pressure (PR = 1.11 with 95% CI 1.06-1.17), and high cholesterol (PR = 1.09 with 95% CI 1.04-1.14). Conclusions for practice Mexican women with earlier and later ages at menarche and/or longer time to menstrual regularity may have higher risk of cardio-metabolic disease in adulthood.
Subject(s)
Heart Diseases/complications , Menarche/physiology , Metabolic Diseases/complications , Adult , Age Factors , Female , Heart Diseases/metabolism , Humans , Menarche/metabolism , Metabolic Diseases/metabolism , Mexico , Middle Aged , Odds Ratio , Poisson Distribution , Prospective Studies , Risk Factors , Surveys and QuestionnairesABSTRACT
Introduction: Menière's disease was described in 1861, but there are still uncertainties regarding its pathophysiology and treatment. Endolymphatic hydrops is recognized as a fundamental pathological characteristic of the disease, as a result of an inadequate absorption of the endolymph. A milder type of endolymphatic hydrops results from an altered chemical composition of the endolymph, due to disorders of the carbohydrate metabolism. Objective: To describe the association of both types of hydrops in patients with Menière disease. Methods: This was a retrospective study of 98 patients with Menière's disease, 62 of whom also presented disorders of the carbohydrate metabolism, and 5 patients with delayed endolymphatic hydrops, 2 of whom also presented disorders of the carbohydrate metabolism. Results: The follow-up of these patients showed that the correction of the metabolic disorders may help in the clinical treatment of Menière's disease and of delayed endolymphatic hydrops, but this does not happen in the more severe types of the diseases. Conclusion: Patients with Menière's disease may present simultaneous disorders of the carbohydratemetabolism, affecting the inner ear. The correction of these disorders helps the clinical treatment but does not preclude the progression of the more severe cases of Menière disease (AU)
Subject(s)
Humans , Male , Female , Carbohydrate Metabolism , Meniere Disease/complications , Metabolic Diseases/complications , Retrospective Studies , Endolymphatic Hydrops/complications , Endolymphatic Hydrops/physiopathology , Ear, Inner/physiopathology , Meniere Disease/etiology , Meniere Disease/physiopathology , Metabolic Diseases/physiopathologyABSTRACT
OBJECTIVE: to present a physical frailty prediction model for oldest old users of primary health care, according to clinical variables. METHOD: cross-sectional study with proportional stratified sample of 243 oldest old subjects. Data were collected through a structured clinical questionnaire, handgrip strength test, walking speed, weight loss, fatigue/exhaustion, and physical activity level. For the analysis of the data, univariate and multivariate analysis by logistic regression were used (p<0.05), which resulted in prediction models. The odds ratios (95% Confidence Interval) of the models were calculated. Each model was evaluated by deviance analysis, likelihood ratios, specificity and sensitivity, considering the most adequate. All ethical and legal precepts were followed. RESULTS: the prediction model elected was composed of metabolic diseases, dyslipidemias and hospitalization in the last 12 months. CONCLUSION: clinical variables interfere in the development of the physical frailty syndrome in oldest old users of basic health unit. The choice of a physical frailty regression model is the first step in the elaboration of clinical methods to evaluate the oldest old in primary care.
Subject(s)
Frail Elderly/statistics & numerical data , Frailty/epidemiology , Health Surveys/statistics & numerical data , Logistic Models , Primary Health Care/statistics & numerical data , Accidental Falls/statistics & numerical data , Aged, 80 and over , Cross-Sectional Studies , Dyslipidemias/complications , Female , Frailty/complications , Geriatric Assessment/statistics & numerical data , Hand Strength , Hospitalization/statistics & numerical data , Humans , Male , Metabolic Diseases/complications , Regression Analysis , Walking SpeedABSTRACT
Introducción: El mielomeningocele es un defecto congénito con cierre incompleto del tubo neural. Presenta alteraciones en la composición corporal y alta prevalencia de obesidad. Es difícil detectar el indicador más apropiado para diagnóstico nutricional por impresición de las medidas antropométricas. Objetivo: Describir en una población de pacientes con mielomeningocele seguidos en el "Hospital Garrahan", la composición corporal, gasto energético en reposo y trastornos metabólicos, comparando los pacientes con mielomeningocele obesos con una población control con obesidad multifactorial. Población y Métodos: Se realizó antropometría, impedanciometría, pliegues cutáneos, perímetro braquial, calorimetría indirecta y determinaciones bioquímicas a todos los pacientes con mielomeningocele entre junio/2013-abril/2014, previa firma del Consentimiento Informado. Resultados: Se evaluaron 131 pacientes de 0,718,6 años, clasificados según Score-Z de Índice de Masa Corporal en 15% bajo peso, 42% normopeso, 12% sobrepeso y 31% obesidad. Se encontró alta correlación (r²0,74) entre %masa grasa por impedanciometría vs calculado con pliegues cutaneos. Los pacientes con % masa grasa elevada vs %masa grasa normal tuvieron mayor score-Z de Indice de Masa Corporal (1,07 vs -0,27 p0,0001) aunque ambos valores se encontraban dentro de parámetros normales. Hubo menor gasto energético en reposo en los pacientes con mielomeningocele obesos comparado con el esperado y con obesos multifactoriales. Conclusiones: Se encontró alto porcentaje de sobrepeso/obesidad en la población con mielomeningocele. Los pliegues cutáneos serían más apropiados para detectar obesidad. Los pacientes con mielomeningocele obesos presentaron gasto energetico en reposo menor al esperado y a los controles. La indicación de energía debe ser personalizada.
Introduction. Myelomeningocele is a congenital defect that occurs when the neural tube fails to close completely. It causes body composition alterations and a high prevalence of obesity. It is difficult to detect the most adequate indicator for a nutritional diagnosis due to the impossibility of recording accurate anthropometric measurements. Objective. To describe body composition, resting energy expenditure and metabolic disorders in a population of patients with myelomeningocele managed at "Hospital Garrahan" by comparing obese patients with myelomeningocele and a control population with multifactorial obesity. Population and methods. An anthropometry, an impedance analysis, skinfold equations, arm circumference equations, indirect calorimetry, and biochemical determinations were done to all patients with myelomeningocele between June 2013 and April 2014, once the informed consent had been signed. Results. 131 patients aged 0.7-18.6 years were assessed; they were classified according to their body mass index Z-score into low weight (15%), normal weight (42%), overweight (12%), and obese (31%). A high correlation (r: 20.74) was observed between the fat mass % measured by impedance analysis versus that estimated using skinfolds. Patients with a high fat mass % had a higher body mass index Z-score than those with a normal fat mass % (1.07 versus -0.27, p: 0.0001) although both values were within normal parameters. A lower resting energy expenditure was observed among obese patients with myelomeningocele than predicted and in comparison with multifactorial obese controls. Conclusions. A high percentage of overweight/obesity was found in the population with myelomeningocele. Skinfold equations would be more adequate to detect obesity. Obese patients with myelomeningocele had a lower resting energy expenditure than predicted and in comparison with controls. Energy indication should be customized.