Assessment of Cholinesterase inhibition activity of birds inhabiting pesticide exposed croplands and protected area in hot semi-arid region of Pakistan / Avaliação da atividade de inibição da colinesterase de pássaros que habitam áreas cultivadas e áreas protegidas expostas a pesticidas na região semiárida quente do Paquistão

Acetylcholinesterase (AChE) activity levels can be used as an indicator for AChE inhibition due to pesticide poisoning in bird species. We assessed the comparative brain cholinesterase (AChE) activity level of five bird species inhabiting pesticide exposed croplands and Protected Area i.e. Deva Vatala National Park (DVNP), Bhimber by using a spectrophotometric method. AChE activity levels ranged from 56.3 to 85.9 µmol/min/g of brain tissue of birds representing DVNP. However, AChE activity levels ranged from 27.6 to 79.9 µmol/min/g of brain tissue of birds representing croplands. AChE activity levels observed in Jungle babbler, Common babbler, and Red-vented bulbul showed significant differences (P 0.05). Maximum inhibition was recorded in Jungle babbler (53%) followed by Common babbler (35%), Red-vented bulbul (18%), White wagtail (15%), and Black drongo (7%). The brain cholinesterase inhibition levels under-protected ecosystems (DVNP, Bhimber) and agricultural landscape suggest insecticidal contamination and its impact on avifauna diversity. The study also emphasizes on the importance of pesticide-free zones to protect the biodiversity of birds.

Os níveis de atividade da acetilcolinesterase (AChE) podem ser usados como um indicador para a inibição da AChE devido ao envenenamento por pesticidas em espécies de aves. Avaliamos o nível de atividade comparativa da colinesterase cerebral (AChE) de cinco espécies de aves que habitam áreas cultivadas expostas a pesticidas e Área Protegida, ou seja, Deva Vatala National Park (DVNP), Bhimber, usando um método espectrofotométrico. Os níveis de atividade da AChE variaram de 56,3 a 85,9 µmol / min / g de tecido cerebral de aves representando DVNP. No entanto, os níveis de atividade da AChE variaram de 27,6 a 79,9 µmol / min / g de tecido cerebral de aves representando áreas de cultivo. Os níveis de atividade de AChE observados no tagarela da selva, tagarela comum e bulbul vermelho exalado mostraram diferenças significativas (P 0,05). A inibição máxima foi registrada no tagarela da selva (53%), seguido pelo tagarela comum (35%), bulbul vermelho (18%), alvéola branca (15%) e drongo preto (7%). Os níveis de inibição da colinesterase cerebral nos ecossistemas subprotegidos (DVNP, Bhimber) e na paisagem agrícola sugerem contaminação por inseticida e seu impacto na diversidade da avifauna. O estudo também enfatiza a importância das zonas livres de pesticidas para proteger a biodiversidade das aves.

Hemidistonía y hemicorea en un paciente pediátrico con déficit del transportador de glucosa de tipo 1 / Hemidystonia and hemichorea in a pediatric patient with glucose transporter type 1 deficiency

El síndrome de deficiencia del transportador de glucosa cerebral de tipo 1 es una enfermedad neurometabólica rara en pediatría. Existe un fenotípico clásico (85 %) y otro no clásico (15 %). Ambos fenotipos se asocian con hipoglucorraquia. Se identifican múltiples mutaciones en el gen SLC2A1. El tratamiento es la terapia cetogénica. Se presenta un varón que comenzó a los cuatro años con hemicorea y hemidistonía medicado con anticonvulsivantes sin respuesta clínica, por lo que consultó nuevamente a los seis años. Con sospecha diagnóstica de síndrome de déficit de glut-1 atípico se realizó punción lumbar; el diagnóstico se confirmó por la presencia de hipoglucorraquia. Inmediatamente después de iniciar la dieta cetogénica, el paciente no presentó más movimientos anormales durante los siguientes 8 años hasta la actualidad, ya cumplidos los 14 años.

Glucose transporter type 1 deficiency syndrome is a rare pediatric neurometabolic disorder. There are two phenotypes: the classical phenotype (85%) and the non-classic (15%). Both phenotypes are associated with hypoglycorrhachia. Multiple mutations are described in the SCL2A1 gene. The treatment is the ketogenic diet. We report a case of a four-year-old male patient who started with hemichorea and hemidystonia and was medicated with drugs for seizures without clinical response, that's why his parents made another pediatric consultation at his six-year-old. With the suggestive clinical findings of glucose transporter type 1 deficiency syndrome the lumbar puncture was made confirming the diagnosis. Immediately after starting the ketogenic diet the patient stopped making abnormal movements up to the moment when he is fourteen years old, eight years after.

Dietas vegetarianas en niños, niñas y adolescentes: revisión bibliográfica / Vegetarian diets in children and adolescents: a literature review / Dietas vegetarianas em crianças e adolescentes: revisão bibliográfica

Las dietas vegetarianas han alcanzado en los últimos tiempos un gran protagonismo como modalidad de alimentación de nuestra población, incluyendo la población pediátrica. Constituyen una opción de alimentación válida si se planifican adecuadamente. Los padres que optan ofrecer a sus hijos este tipo de dietas deben conocer sus riesgos y potenciales beneficios. El médico del primer nivel de atención que asiste a niños, niñas y adolescentes (NNA) tiene una formación limitada sobre nutrición, sin embargo debe supervisar que la alimentación de esta población sea la adecuada. Es necesario conocer los alimentos que integran las dietas vegetarianas, así como las necesidades calóricas, de nutrientes críticos y suplementación de estos NNA según su edad. Realizar una adecuada planificación, es el gold standard para mantener un adecuado estado nutricional, crecimiento y desarrollo. El objetivo de esta publicación es revisar los principios de este tipo de dietas, sus beneficios y riesgos, y se establecen algunas consideraciones y recomendaciones prácticas para su abordaje desde la Atención Primaria de la Salud.

Vegetarian diets have recently reached a great protagonism as a way of feeding our population, including the pediatric population. They are a valid feeding option if properly planned. Parents who choose to offer their children this type of diet should know its risks and potential benefits. The primary care physician who assists children and adolescents (NNA) has limited training in nutrition; however, you must supervise that the diet of this population is adequate. It is necessary to know the foods that make up vegetarian diets, as well as the caloric needs, of critical nutrients and supplementation of these children according to their age. Carrying out adequate planning is the gold standard to maintain adequate nutritional, growth and development status. The objective of this publication is to review the principles of this type of diet, its benefits and risks, and establish some practical considerations and recommendations for its approach from Primary Health Care.

A alimentação vegetariana tem atingido recentemente um grande protagonismo como forma de alimentação de nossa população, inclusive a pediátrica. Ela é uma opção de alimentação válida se devidamente planejada. Os pais que optam por oferecer a seus filhos esse tipo de dieta devem estar conscientes de seus riscos e potenciais benefícios. O médico de atenção primária que assiste crianças e adolescentes (NNA) tem treinamento limitado em nutrição; no entanto, deve-se supervisionar se a alimentação dessa população é adequada. É necessário conhecer os alimentos que compõem a dieta vegetariana, bem como as necessidades calóricas, de nutrientes críticos e de suplementação dessas crianças de acordo com a sua idade. Realizar um planejamento adequado é fundamental para manter o estado nutricional, de crescimento e de desenvolvimento adequado. O objetivo deste paper é revisar os princípios desse tipo de dieta, seus benefícios e riscos, e estabelecer algumas considerações práticas e recomendações para sua abordagem desde a perspectiva da Atenção Primária à Saúde.

The importance of optimal 25-hydroxyvitamin D levels in the glycemic control of older adults with type 2 Diabetes Mellitus: Data from the study on aging and longevity EELO

INTRODUCTION: Optimal serum levels of vitamin D are of great importance, especially in populations with comorbidities such as Diabetes Mellitus (DM). OBJECTIVE: The study evaluated the relationship between hypovitaminosis D and glycemic control in older adults with type 2 DM. METHODS: Cross-sectional and prospective study, part of the EELO project (Study on Aging and Longevity), conducted in Southern Brazil. Glycated hemoglobin (diabetes ≥6.5%) and serum levels of vitamin D (25(OH)D) were evaluated. Hypovitaminosis D was determined using cutoff points <20 and <30 ng/mL). Multivariate logistic regression was used to assess the risk of having uncontrolled DM. RESULTS: Of the 120 older adults included in the study, aged between 60 and 87 years, 74.2% were women, 66.7% used hypoglycemic medications and 75.8% exhibited uncontrolled diabetes. An inverse correlation was observed between the levels of 25(OH) D and glycated hemoglobin (rS=-0.19, p=0.037), suggesting that low levels of vitamin D are associated with poor glycemic control in diabetic individuals. The prevalence of hypovitaminosis D when using the cutoff points of <20 and <30 ng/mL were 34.2% and 75.0%, respectively. The odds ratio (OR) analysis showed that individuals with 25(OH)D<20ng/mL have almost 4 times more risk of having uncontrolled DM (OR:3.94; CI95%:1.25-12.46, p=0.02) when compared to the older adults with sufficient levels of vitamin D. CONCLUSION: The results indicate that the optimal serum levels currently recommended for 25(OH)D should preferably be 30 ng/mL or higher to contribute to better glycemic control in older adults with type 2 DM.

INTRODUÇÃO: Os níveis séricos ideais de vitamina D são de grande importância, especialmente na população com comorbidades como o Diabetes Mellitus (DM). OBJETIVO: O estudo avaliou a relação entre hipovitaminose D e controle glicêmico em idosos com DM tipo 2. MÉTODOS: Estudo transversal e prospectivo, parte do projeto EELO (Estudo sobre Envelhecimento e Longevidade), no Sul do Brasil. A hemoglobina glicada (diabetes ≥6,5%) e os níveis séricos de vitamina D (25(OH)D) foram avaliados. Hipovitaminose D foi determinada usando ponto de corte <20 e <30 ng/mL. Regressão logística multivariada foi utilizada para avaliar o risco de ter DM descompensado. RESULTADOS: Dos 120 idosos incluídos no estudo, idade entre 60 a 87 anos, 74,2% eram mulheres, 66,7% faziam uso de medicamentos hipoglicemiantes e 75,8% apresentavam diabetes descompensada. Uma correlação inversa foi observada entre os níveis de 25(OH)D e hemoglobina glicada (rS=-0,19; p=0.037), sugerindo que baixos níveis de vitamina D está associado a um pior controle glicêmico em diabéticos. A prevalência de hipovitaminose D quando se utiliza ponto de corte <20 e <30 ng/mL foi de 34,2% e 75,0%, respectivamente. A análise Odds ratio (OR) mostrou que indivíduos com 25(OH)D<20 ng/mL tem quase 4 vezes mais risco de ter DM descompensado (OR:3,94; IC95%:1,25­12,46; p=0,02) quando comparado aos idosos com níveis suficientes de vitamina D. CONCLUSÃO: Os resultados indicam que os níveis sérios ideais atualmente recomendados para 25(OH)D maior ou igual a 30 ng/ml contribuem para o melhor controle glicêmico na população idosa com DM tipo 2.

Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation

Abstract Isolated left ventricular apical hypoplasia is a rare cardiomyopathy, with a broad range of clinical presentations. Since this entity was already described in association with osteomuscular diseases, mutation in the Lamin A/C gene has been regarded as a possible cause of this disease. This study describes the case of an asymptomatic teenager with isolated left ventricular apical hypoplasia and arthrogriposis but with no mutations in the entire Lamin A/C gene.

HFE hemochromatosis: an overview about therapeutic recommendations

Abstract Hemochromatosis is currently characterized by the iron overload caused by hepcidin deficiency. Large advances in the knowledge on the hemochromatosis pathophysiology have occurred due to a better understanding of the protein of the iron metabolism, the genetic basis of hemochromatosis and of other iron overload diseases or conditions which can lead to this phenotype. In the present review, the main aims are to show updates on hemochromatosis and to report a practical set of therapeutic recommendations for the human factors engineering protein (HFE) hemochromatosis for the p.Cys282Tyr (C282Y/C282Y) homozygous genotype, elaborated by the Haemochromatosis International Taskforce.

Avaliação dos níveis da citocina pró-inflamatória fator de necrose tumoral-α em pacientes com diabetes tipo 2 e sua relação com variações genéticas de enzimas antioxidantes e obesidade / Evaluation of proinflammatory cytokine tumor necrosis factor-α levels in obese vs nonobese patients with type 2 diabetes and their relationship to CAT C-262T polymorphism

Introdução: Diabetes tipo 2 (DM2) é um distúrbio multifatorial caracterizado pelo aumento dos níveis de radicais livres. Tanto o estresse oxidativo quanto a obesidade contribuem para um estado inflamatório da doença, principalmente pelo aumento da citocina TNF-α. Sabendo-se que a genética individual pode contribuir para o estresse oxidativo, o estudo avaliou o impacto das variações genéticas de enzimas antioxidantes C262T no gene CAT e polimorfismos nulos dos genes GSTM1 e GSTT1 nos níveis de TNF-α, assim como, avaliou se as variantes genéticas atuariam sinergicamente com a obesidade aumentando os níveis da citocina em diabéticos da Grande Vitória/ES, Brasil.Métodos: O polimorfismo no gene CAT foi avaliado pela técnica PCR/RFLP e nos genes GSTM1 e GSTT1 por PCR multiplex, em 56 pacientes, sendo 28 obesos e 28 não obesos. Níveis de TNF-α foram medidos pela técnica de ELISA sanduíche.Resultados: Frequências das variantes nulas de GSTM1 e GSTT1 foram 44,6% e 17,9%, respectivamente. As frequências genotípicas C262T-CAT foram 73,2%, 25% e 1,8% para homozigoto normal, heterozigoto e homozigoto polimórfico, respectivamente. Não houve associação entre genótipos polimórficos e aumento dos níveis de TNF-α, assim como, não foi demonstrado aumento significante da citocina quando avaliado o sinergismo entre obesidade e genética individual do paciente.Conclusão: Níveis de TNF-α não se elevam em diabéticos tipo 2 na presença dos polimorfismos nos genes CAT, GSTM1 e GSTT1, e a obesidade não atua no aumento dessa citocina na população estudada, separadamente ou em conjunto com a genética individual de variantes nos genes CAT, GSTM1 e GSTT1.

Introduction: Type 2 diabetes is a multifactorial disorder characterized by increased levels of free radicals. Both oxidative stress and obesity contribute to an inflammatory state of the disease, mainly by increasing the levels of the proinflammatory cytokine tumor necrosis factor-α (TNF-α). Considering that personal genetics may contribute to oxidative stress, this study assessed the impact of CAT C-262T polymorphism and GSTM1 and GSTT1 null polymorphisms on TNF-α levels in patients with type 2. diabetes. The study also evaluated whether the genetic variants act synergistically with obesity to increase TNF-α levels in patients with diabetes from Grande Vitória, Brazil.Methods: Fifty-six patients were included, of whom 28 were obese and 28 were nonobese. The CAT gene polymorphism was assessed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method, whereas GSTM1 and GSTT1 polymorphisms were assessed using multiplex PCR. TNF-α levels were measured using the sandwich ELISA technique.Results: Frequencies of GSTM1 and GSTT1 null polymorphisms were 44.6% and 17.9%, respectively. The genotype frequencies of CATC-262T polymorphism were 73.2%, 25.0%, and 1.8% for normal homozygote, heterozygote, and polymorphic homozygote, respectively. Polymorphic genotypes were not associated with increased TNF-α levels, and there was no significant increase in TNF-α levels when evaluating the synergism between obesity and personal genetics.Conclusion: The presence of CAT, GSTM1, and GSTT1 gene polymorphisms was not associated with increased TNF-α levels in patients with type 2 diabetes. Obesity alone or combined with personal genetics of CAT, GSTM1, and GSTT1gene polymorphisms did not promote increased TNF-α levels in the study population.

Atendendo mulheres com cariótipo 46, XY / Attending women with 46, XY karyotype

As diferenças ou distúrbios do desenvolvimento sexual (DDS) compreendem um grupo heterogêneo de condições congênitas que resultam na discordância entre os cromossomos sexuais, as gônadas e/ou o sexo anatômico de um indivíduo. A classificação desses distúrbios é baseada no cariótipo conforme o Consenso de Chicago de 2006 e substitui os termos pseudo-hermafroditismo, hermafroditismo e intersexo. O objetivo desta revisão é fornecer ao ginecologista conhecimentos básicos sobre a etiologia, fisiopatologia e orientações das principais anormalidades de DDS para uma avaliação diagnóstica e terapêutica no atendimento de mulheres na infância, adolescência e em idade adulta com cariótipo 46,XY. O diagnóstico deve ser realizado pela interação entre o exame clínico as dosagens hormonais, os exames de imagem e a análise genética, desde o cariótipo até o estudo de alterações dos genes por técnicas de biologia molecular. O tratamento é realizado de acordo com a etiologia e inclui intervenções cirúrgicas como a gonadectomia e plásticas sobre a genitália externa, terapia de reposição hormonal e apoio psicológico. São necessárias a individualização dos casos e uma equipe interdisciplinar, para um atendimento adequado às mulheres com cariótipo 46,XY.(AU)

Differences or disorders of sexual development (DSDs) comprise a heterogeneous group of congenital conditions that result in the disagreement between an individual's sex chromosomes, gonads and/or anatomic sex. The classification of these disorders is based on the karyotype according to the 2006 Chicago Consensus and replaces the terms pseudohermaphroditism, hermaphroditism and intersex. The aim of this review is to provide the gynecologist with basic knowledge about the etiology, pathophysiology and guidelines of the main abnormalities of DDS for a diagnostic and therapeutic evaluation in the care of women in childhood, adolescence and adulthood with a karyotype 46,XY. The diagnosis must be made by the interaction between clinical examination hormonal measurements, imaging and genetic analysis from the karyotype to the study of gene alterations by molecular biology techniques. Treatment is carried out according to the etiology and includes surgical interventions such as gonadectomy and plastic surgery on the external genitalia, hormone replacement therapy and psychological support. Individualization of cases and an interdisciplinary team are required to provide adequate care for women 46,XY karyotype.(AU)

Liver structural injury in leptin-deficient (ob/ob) mice: lipogenesis, fibrogenesis, inflammation, and apoptosis / Lesión estructural del hígado en ratones con deficiencia de leptina (ob/ob): lipogénesis, fibrogénesis, inflamación y apoptosis

SUMMARY: Nonalcoholic fatty liver disease (NAFLD) might progress the steatosis to nonalcoholic steatohepatitis (NASH), reaching a cirrhosis state and possibly hepatocellular carcinoma. The liver of three-month-old C57BL/6J mice (wild-type, WT group, n=10) and leptin- deficient obese mice (ob/ob group, n=10) were studied, focusing on the mechanisms associated with the activation of the hepatic stellate cells (HSCs) and pro-fibrogenesis. The obese ob/ob animals' liver showed steatosis, increased lipogenesis gene expressions, inflammation, increased pro-inflammatory gene expressions, inflammatory infiltrate, and potential apoptosis linked to a high Caspase 3 expression. In ob/ob mice, liver sections were labeled in the fibrotic zones by anti-alpha-smooth muscle actin (alpha-SMA) and anti-Reelin, but not in the WT mice. Moreover, the alpha-SMA gene expression was higher in the ob/ob group's liver than the WT group. The pro-fibrogenic gene expressions were parallel to anti- alpha-SMA and anti-Reelin immunofluorescence, suggesting HSCs activation. In the ob/ob animals, there were increased gene expressions involved with lipogenesis (Peroxisome proliferator-activated receptor-gamma, Cell death-inducing DFFA-like effector-c, Sterol regulatory element-binding protein-1c, and Fatty acid synthase), pro-fibrogenesis (Transforming growth factor beta1, Smad proteins- 3, Yes-associated protein-1, Protein platelet-derived growth factor receptor beta), pro-inflammation (Tumor necrosis factor-alpha, and Interleukin-6), and apoptosis (Caspase 3). In conclusion, the results in obese ob/ob animals provide a clue to the events in humans. In a translational view, controlling these targets can help mitigate the hepatic effects of human obesity and NAFLD progression to NASH.

RESUMEN: La enfermedad del hígado graso no alcohólico (HGNA) puede progresar de la esteatosis a esteatohepatitis no alcohólica (ENA), alcanzando un estado de cirrosis y posiblemente carcinoma hepatocelular. Se estudió el hígado de ratones C57BL / 6J de tres meses de edad (tipo salvaje, grupo WT, n = 10) y ratones obesos con deficiencia de leptina (grupo ob/ob, n = 10), centrándose en los mecanismos asociados con la activación de las células estrelladas hepáticas (HSC) y profibrogénesis. El hígado de los animales obesos ob/ob mostró esteatosis, aumento de la expresión génica de la lipogénesis, inflamación, aumento de la expresión génica proinflamatoria, infiltrado inflamatorio y posible apoptosis ligada a una alta expresión de Caspasa 3. En ratones ob/ob, las sec- ciones de hígado se marcaron en las zonas fibróticas con anti-alfa- actina de músculo liso (alfa-SMA) y anti-Reelin, pero no en los ratones WT. Además, la expresión del gen alfa-SMA fue mayor en el hígado del grupo ob/ob que en el grupo WT. Las expresiones génicas profibrogénicas fueron paralelas a la inmunofluorescencia anti-alfa-SMA y anti-Reelin, lo que sugiere la activación de las HSC. En los animales ob/ob, hubo un aumento de las expresiones génicas involucradas con la lipogénesis (receptor activado por proliferador de peroxisoma gamma, efector c similar a DFFA inductor de muerte celular, proteína de unión al elemento regulador de esterol-1c y sintasa de ácidos grasos), pro-fibrogénesis (factor de crecimiento transformante beta 1, proteínas Smad-3, proteína-1 asociada a Yes, receptor beta del factor de crecimiento derivado de plaquetas de proteínas), proinflamación (factor de necrosis tumoral alfa e interleucina-6) y apoptosis (caspasa 3). ). En conclusión, los resultados en animales obesos ob/ob proporcionan una pista de los eventos en humanos. Desde un punto de vista traslacional, el control de estos objetivos puede ayudar a mitigar los efectos hepáticos de la obesidad humana y la progresión de HGNA a ENA.

Hypoadiponectinemia as a marker of increased cardiovascular risk in patients with non-alcoholic fatty liver disease: correlation with albumin/creatinine ratio

ABSTRACT Objective: We assessed plasma adiponectin and its correlation with carotid intima-media-thickness (CIMT), as a marker of atherosclerosis, and urine albumin/creatinine ratio (ACR) in patients with non-alcoholic fatty liver disease (NAFLD). Subjects and methods: The study included 100 Egyptian subjects (50 patients with NAFLD with no history of diabetes or hypertension and 50 age and sex-matched normal healthy control subjects). Urine albumin/creatinine ratio (ACR) was assessed in all participants and fasting plasma adiponectin was measured using ELISA technique. Ultrasonography was used to diagnose NAFLD. CIMT was assessed using high-resolution Doppler ultrasonography. Results: Mild albuminuria was detected in patients with NAFLD (mean urine ACR = 42 ± 30 mg/g). Plasma adiponectin was significantly lower and urine ACR and CIMT significantly higher in patients with NAFLD as compared with the control group (P < 0.001 for all). A significant negative correlation was found between plasma adiponectin and both urine ACR and CIMT in patients with NAFLD (P < 0.001 and < 0.05 respectively). A significant positive correlation was also found between CIMT and urine ACR in those patients (P < 0.05). Plasma adiponectin and urine ACR were independent determinants of CIMT in patients with NAFLD (P < 0.01 and < 0.05 respectively). Conclusion: Patients with NAFLD, without diabetes, have an increased risk of atherosclerosis and cardiovascular disease. Hypoadiponectinemia and low-grade albuminuria are important markers of that risk.

Malnutrition in Relation with Dietary, Geographical, and Socioeconomic Factors among Older Chinese / 生物医学与环境科学（英文）

Objective@#Nutrition is closely related to the health of the elderly population. This study aimed to provide a comprehensive picture of the nutrition status of elderly Chinese and its related dietary, geographical, and socioeconomic factors.@*Methods@#A total of 13,987 ≥ 60-year-old persons from the 2010-2013 Chinese National Nutrition and Health Survey were included to evaluate various aspects of malnutrition, including underweight, overweight or obesity, and micronutrient inadequacy.@*Results@#Overall, the prevalence of obesity, overweight, and underweight was 12.4%, 34.8%, and 5.7%, respectively, with disparities both geographically and socioeconomically. The prevalence of underweight was higher among the older old (≥ 75 years), rural residents and those with low income, with low education status, and residing in undeveloped West areas. More than 75% of the elderly do not meet the Dietary Reference Intakes for vitamins A, B @*Conclusions@#Obesity epidemic, inadequacy of micronutrient intake, and high prevalence of underweight and anemia in susceptible older people are the major nutrition challenges for the rapidly aging population in China.

Mucopolysacaridosis type iiib misdiagnosed as an autistic spectrum disorder: a case report and literature review / Mucopolissacaridose tipo iii b mal diagnosticada como transtorno de espectro autista: relato de caso e revisão de literatura

ABSTRACT Objective: To report a rare case of mucopolysaccharidosis IIIB in a pediatric patient, with emphasis on the description of the clinical manifestations and the early diagnosis. Case description: A 14-year-old male patient, who presented regression of neuropsychomotor development since his three years and six months old, with speech loss and frequent falls, evolving with behavioral changes, with agitation and aggressiveness. Although being diagnosed with autism, there was no response to the established treatment; he was subsequently submitted to metabolic investigation, which lead to the diagnosis of Mucopolysaccharidosis IIIB. Comments: Identifying a metabolic disorder requires connecting multiple signs and symptoms, as well as eliminating other apparent causes. MPS IIIB is a diagnostic challenge, particularly in the early stages and in the absence of a family history of the disease.

RESUMO Objetivo: Relatar o caso raro de um paciente pediátrico com mucopolissacaridose III B, com ênfase na descrição de manifestações clínicas. Descrição do caso: Paciente masculino de 14 anos que, a partir dos 3 anos e 6 meses de idade, apresentou regressão do desenvolvimento neuropsicomotor, com perda da fala e quedas frequentes, evoluindo com alterações comportamentais, agitação e agressividade. Diagnosticado como autista, não obteve resposta ao tratamento estabelecido, sendo posteriormente submetido à investigação metabólica, que evidenciou o diagnóstico de mucopolissacaridose III B. Comentários: A identificação de um distúrbio metabólico exige conectar vários sinais e sintomas, além de eliminar outras causas aparentes. A mucopolissacaridose III B é um desafio diagnóstico, particularmente nos estágios iniciais e na ausência de história familiar da doença.

Analysis of metabolic profile and genetic variants for newborns with primary carnitine deficiency from Guangxi / 中华医学遗传学杂志

OBJECTIVE@#To analyze the metabolic profile and genetic variants for newborns with primary carnitine deficiency (PCD) from Guangxi, China.@*METHODS@#From January 2014 to December 2019, 400 575 newborns from the jurisdiction of Guangxi Zhuang Autonomous Region Newborn Screening Center were subjected to tandem mass spectrometry (MS/MS) analysis. Newborns with positive results for PCD and their mothers were recalled for retesting. Those who were still positive were subjected to sequencing of the SLC22A5 gene.@*RESULTS@#Twenty-two newborns and 9 mothers were diagnosed with PCD, which gave a prevalence rate of 1/18 208. Sequencing of 18 newborns and 4 mothers have identified 14 types of SLC22A5 gene variants, with the common ones including c.51C>G (10/44, 22.7%), c.1195C>T (9/44, 20.5%) and c.1400C>G (7/44, 15.9%), The c.517delC(p.L173Cfs*3) and c.1031C>T(p.T344I) were unreported previously and predicted to be pathogenic (PVS1+PM2_supporting+PM3+PP4) and likely pathogenic (PM1+PM2_supporting+PM3+PP3+PP4) based on the American College of Medical Genetics and Genomics standards and guidelines.@*CONCLUSION@#c.51C>G, c.1195C>T and c.1400C>G are the most common variants underlying PCD in Guangxi.

Un trastorno poco frecuente del ciclo de la urea en un recién nacido: deficiencia de N-acetilglutamato sintasa / A rare urea cycle disorder in a neonate: N-acetylglutamate synthetase deficiency

Los trastornos del ciclo de la urea (TCU) son enfermedades hereditarias con un posible desenlace desfavorable por hiperamoniemia grave. Se informa de una bebé con deficiencia de N-acetilglutamato sintasa (NAGS), quien tenía succión débil e hipotonicidad. Al examinarla, se observó hepatomegalia. El hemograma, los análisis y la gasometría eran normales, y las proteínas de la fase aguda, negativas. En los análisis, no se observaron cetonas en sangre, pero sí concentraciones elevadas de amoníaco. Las pruebas metabólicas no fueron concluyentes. Se inició el tratamiento de emergencia inmediatamente y recibió el alta el día 15 después del ingreso. Se confirmó deficiencia de NAGS mediante análisis de ADN. La paciente no tiene restricciones alimentarias ni toma medicamentos, excepto N-carbamil glutamato (NCG). La deficiencia de NAGS es el único TCU que puede tratarse específica y eficazmente con NCG. La detección temprana permite iniciar un tratamiento temprano y evitar los efectos devastadores de la hiperamoniemia

Urea cycle disorders (UCD), are genetically inherited diseases that may have a poor outcome due to to profound hyperammonemia. We report the case of a baby girl diagnosed as N-acetylglutamate synthase (NAGS) deficiency.The patient was evaluated due to diminished sucking and hypotonicity. Physical examination showed hepatomegaly. Complete blood count, biochemical values and blood gas analyses were normal, acute phase reactants were negative. Further laboratory analyses showed no ketones in blood and highly elevated ammonia. Metabolic tests were inconclusive. Emergency treatment was initiated immediately and she was discharged on the 15th day of admission. NAGS deficiency was confirmed by DNA-analysis. She is now without any dietary restriction or other medication, except N-carbamylglutamate (NCG).NAGS deficiency is the only UCD which can be specifically and effectively treated by NCG. Early recognition of disease will lead to early treatment that may prohibit devastating effects of hyperammonemia

Metabolomics as a potential tool for the diagnosis of growth hormone deficiency (GHD): a review

ABSTRACT Metabolomics uses several analytical tools to identify the chemical diversity of metabolites present in organisms. These metabolites are low molecular weight molecules (<1500 Da) classified as a final or intermediary product of metabolic processes. The application of this omics technology has become prominent in inferring physiological conditions through reporting on the phenotypic state; therefore, the introduction of metabolomics into clinical studies has been growing in recent years due to its efficiency in discriminating pathophysiological states. Regarding endocrine diseases, there is a great interest in verifying comprehensive and individualized physiological scenarios, in particular for growth hormone deficiency (GHD). The current GHD diagnostic tests are laborious and invasive and there is no exam with ideal reproducibility and sensitivity for diagnosis neither standard GH cut-off point. Therefore, this review was focussed on articles that applied metabolomics in the search for new biomarkers for GHD. The present work shows that the applications of metabolomics in GHD are still limited, since the little complementarily of analytical techniques, a low number of samples, GHD combined to other deficiencies, and idiopathic diagnosis shows a lack of progress. The results of the research are relevant and similar; however, their results do not provide an application for clinical practice due to the lack of multidisciplinary actions that would be needed to mediate the translation of the knowledge produced in the laboratory, if transferred to the medical setting.

Cobalt deficiency in cattle and its impact on production / Deficiência de cobalto em bovinos e seu impacto na produção

Two outbreaks of cobalt deficiency in beef cattle were diagnosed in Midwestern Brazil. We discuss the clinical, epidemiological, pathological features, therapeutic measures, and impact aspects of the production system associated with these outbreaks occurring outbreaks in two farms of extensive cattle raising-system in the state of Mato Grosso do Sul. Seven affected cattle were euthanized and necropsied. Tissues for histopathology and microelements dosage were secured. At Farm A, 3100 cattle of all ages got sick, and 396 died; at Farm B, 148 were affected, and 110 died. In both farms, cattle were fed the same mineral supplement. The main clinical signs were weight loss and weakness, even though a good supply of forage was available in the paddocks. Many cattle stop grazing and chew at tree barks, wood chips from fence posts, and bones. In addition to the deaths, there was a compromised growth, and the reproductive rates fell sharply. The necropsied cattle were thin, with rough hair coat and pale mucous membranes. The liver was diffusely orange and showed a lobular pattern. The bone marrow was gelatinous and diffusely yellow. Histological changes included hemosiderosis in the liver and spleen, hepatocellular vacuolar degeneration, and myeloid and erythroid hypoplasia of the bone marrow. In the white matter of four cattle's brains, the myelin sheath was markedly distended (spongy degeneration). Proliferative parasitic abomasitis was observed in three cattle. The presumptive diagnosis was based on the association of the clinical picture, the necropsy findings, and the ruling out of other possible causes. The diagnosis was confirmed by the favorable response to treatment with cobalt and vitamin B12 orally and by mineral supplementation.(AU)

Dois surtos de deficiência de cobalto em bovinos de corte foram diagnosticados. Os aspectos clínicos, epidemiológicos, anatomopatológicos, terapêuticos e impactos no sistema de produção são descritos e discutidos. Os surtos ocorreram em duas fazendas de criação extensiva estado de Mato Grosso do Sul, Centro-Oeste brasileiro. Sete bovinos afetados foram eutanasiados e necropsiados. Na necropsia foram colhidas amostras para exames histopatológicos e dosagem de microelementos. Na Fazenda A, 3100 bovinos de todas as idades adoeceram e 396 morreram e na Fazenda B, 148 bovinos adoeceram e 110 morreram. Ambas as fazendas utilizavam o mesmo suplemento mineral. Os principais sinais clínicos observados foram emagrecimento e fraqueza, apesar da boa oferta de forragem nos piquetes, muitos bovinos deixaram de pastejar e comiam cascas de árvores, madeira das porteiras e ossos. Além das mortes, tiveram crescimento comprometido e os índices reprodutivos tiveram queda acentuada. Os bovinos necropsiados estavam magros, com os pelos arrepiados e mucosas pálidas. O fígado estava difusamente alaranjado e com evidenciação do padrão lobular. A medula óssea estava de consistência gelatinosa e difusamente amarelada. Alterações histológicas incluíam degeneração vacuolar hemossiderose que era moderada no fígado e marcada no baço. Hipoplasia mieloide e eritoide era vista na medula óssea. Na substância branca do encéfalo de quatro bovinos, a bainha de mielina estava marcadamente distendida (degeneração esponjosa). Abomasite parasitária proliferativa foi observada em três bovinos. O diagnóstico presuntivo baseou-se na associação do quadro clínico, nos achados de necropsia e na eliminação de outras possíveis causas. O diagnóstico foi confirmado pela resposta favorável ao tratamento com cobalto e vitamina B12 por via oral, e a suplementação mineral.(AU)

Caracterización clínico epidemiológica de la diabetes mellitus tipo 1 en pediatría, Hospital Mario Catarino Rivas / Epidemiological Clinical characterization of diabetes mellitus type 1 in pediatrics, Mario Catarino Rivas Hospital

Antecedentes: Diabetes Mellitus (DM) se consi- dera una enfermedad metabólica con hiperglu- cemia de forma crónica, causada por un déficit parcial o total en la secreción o acción de la in- sulina. El 70-90% de DM1 tienen base autoin- mune. Objetivo: Describir las características clí- nico- epidemiológicas de Diabetes Mellitus I en Pediatría del Hospital Mario Catarino Rivas, San Pedro Sula, Cortés, en el período comprendido entre junio de 2017 - junio de 2019. Pacientes y métodos: Estudio cuantitativo, descriptivo, observacional, realizado en pacientes menores de 18 años que reunieron criterios de inclusión. Los datos se recolectaron mediante encuesta. Re- sultados: El grupo de edad más frecuente fue el escolar de 6-12 años en 49%. Mas frecuente en mujeres en 51%, 29% de los pacientes estudiados presentaron sedentarismo, 17% dislipidemias y sobrepeso, diagnosticadas en el debut de la enfer- medad. Los síntomas más frecuentes fueron po- lifagia en 44%, poliuria en 21%. Conclusiones: Las características socio-demográficas del grupo poblacional estudiado fueron las siguientes, el sexo más afectado fue el femenino y el grupo de edad más frecuente los escolares que se encuen- tran cursando la primaria, la mayoría de los pa- cientes estudiados no presentaban enfermedades asociadas, mientras que solo unos pocos presen- taban sobrepeso y dislipidemias asociado a Dia- betes Mellitus tipo I, se observó un predominio del debut sintomático asociado con la triada de polifagia, polidipsia y poliuria, además visión borrosa y pérdida de peso...(AU)