Type 1 diabetes mellitus and Graves' disease in Down's syndrome--a rare combination.

BACKGROUND: Autoimmune diseases including thyroid. disorders, type 1 diabetes and celiac disease are commoner in persons with Down's syndrome compared with the general population. Coexistent type 1 diabetes and hyperthyroidism in Down's syndrome is however not commonly reported in literature. OBJECTIVE: To report a case of a lady presenting with Graves' disease and type 1 diabetes at the same time. CLINICAL PRESENTATION: We report the case of a 22- year-old lady with Down's syndrome who presented with weight loss, polyuria and polydipsia. Physical examination revealed typical dysmorphicfacies of Down's syndrome and a goitre. Laboratory data revealed hyperglycaemia (random plasma glucose-331 mg/dl). She also had biochemical evidence in keeping with hyperthyroidism and markedly elevated thyroid peroxidase antibodies (>1087.0 IU/ml). She improved after rehydration, insulin therapy and antithyroid drugs. CONCLUSION: Coexisting autoimmune diseases may present in patients with Down's syndrome. We advocate for routine screening for diabetes and thyroid dysfunction in ersons with Down's syndrome.

Serum testosterone in Nigerian men with type 2 diabetes mellitus and its relationship with insulin sensitivity and glycemic control.

BACKGROUND: There is increasing evidence that testosterone deficiency has key associations with insulin sensitivity and glycemic control. Its presence may therefore contribute to and/or exacerbate clinical disease in men with type 2 diabetes mellitus (T2DM). This study sought to determine the frequency of low free testosterone and explore its relationship with, insulin sensitivity and glycemic control among Nigerian men with T2DM. METHODS: One hundred and four men with type 2 DM and one hundred and one apparently healthy non-diabetic men matched for age, were recruited into the study Socio-demographic data, anthropometric measurements and blood samples were obtained for measurement of serum total testosterone (TT), sex hormone binding globulin (SHBG), fasting plasma insulin, fasting plasma glucose (FPG), glycated hemoglobin (HbA1c) and fasting lipid profile in all the subjects. Insulin sensitivity (%IS) and free testosterone (CFT) were then calculated. RESULTS: The median CFT for men with T2DM was significantly lower than that of non-diabetic controls (0.17 nmol/L vs 0.58 nmol/L respectively; P < 0.001). 52.9% of men with T2DM had low CFT, as compared with 21.4% amongst the non-diabetic controls; P < 0.001. Among men with T2DM, those with lower CFT had significantly lower median % S and higher mean HbA1c than those with normal CFT (37.0% versus 63.0%; P = 0.021 and 7.79 (2.03) % versus 7.02 (1.94) %; P = 0.038 respectively]. HbA1c had significant negative correlations with both CFT (correlation coefficient: -0.239 (P < 0.05) and TT (correlation coefficient: 0.354; P < 0.01. There was no significant difference in serum lipids when T2DM men with low serum CFT were compared with T2DM men with normal serum CFT levels. CONCLUSION: We conclude that low serum testosterone is common among men with T2DM and has a significant association with glycemic control (HbA1c) and insulin sensitivity.

Hepatitis B vaccine knowledge and self-reported vaccination status among healthcare workers in a conflict region in northeastern Nigeria.

BACKGROUND: Hepatitis B virus (HBV) infection is highly endemic in Nigeria. The primary objective of this study is to describe the knowledge, self-reported vaccination status, and intention of healthcare workers to receive hepatitis B vaccine at a tertiary referral center in conflict-ravaged northeastern Nigeria. METHODS: This was cross-sectional analytical study among medical practitioners, nurses, laboratory workers, health attendants, pharmacists, and radiographers working at Federal Medical Center Nguru, Yobe State. Written informed consent was obtained from all study participants. Data were obtained using questionnaires and entered into a Microsoft Excel spreadsheet, cleaned and analyzed using JMP Pro software. RESULTS: Of the 182 participants, we found that 151 (82.97%), 81 (44.51%), 85 (46.70%), and 33 (18.13%) had good knowledge of HBV, good knowledge of hepatitis B vaccine, were vaccinated against HBV by the least dose, and had a complete hepatitis B vaccination status, respectively. The lack of availability of the vaccine was the main reason for not receiving the vaccine among the unvaccinated 36/91 (39.56%), followed by not knowing where to access the vaccine 19/91 (20.88%). CONCLUSION: The study highlights the need for strategies to ensure the availability of hepatitis B vaccine in conflict settings and need for vaccinology training given the suboptimal level of awareness and uptake of the hepatitis B vaccine among the healthcare workers.

Enfermedad por almacenamiento de glucógeno de tipo III en pacientes colombianos: caracterización clínica y molecular / Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease

Resumen Introducción. La enfermedad por almacenamiento de glucógeno de tipo III es una alteración autosómica recesiva, en la cual las mutaciones del gen AGL causan una deficiencia en la enzima desramificadora de glucógeno. Se caracteriza por hipoglucemia, hepatomegalia y miopatías progresivas. El análisis molecular del gen AGL ha evidenciado mutaciones que difieren según la población estudiada. En la actualidad, no existen reportes que describan mutaciones en el AGL de pacientes colombianos con esta condición. Objetivo. Describir las características clínicas y moleculares de diez pacientes colombianos con enfermedad por almacenamiento del glucógeno de tipo III. Materiales y métodos. Se analizaron diez pacientes pediátricos colombianos con la enfermedad y se hizo su estudio genético mediante la secuenciación de las regiones que codifican y las intrónicas circundantes del gen AGL con el método de Sanger. Resultados. Todos los pacientes tenían el fenotipo clásico de la enfermedad. El estudio genético reveló la mutación p.Arg910X en dos pacientes. Uno presentó la mutación p.Glu1072AspfsX36 y otro resultó heterocigoto compuesto con las mutaciones p.Arg910X y p.Glu1072AspfsX36. Asimismo, en tres pacientes se detectó la deleción de los exones 4, 5 y 6 del gen AGL. Los estudios de simulación computacional predijeron que estos defectos eran patogénicos. En tres pacientes no se encontraron mutaciones en las regiones amplificadas. Conclusión. Se encontraron mutaciones y deleciones que explican el fenotipo clínico de los pacientes. Este es el primer reporte en el que se describe el fenotipo clínico y el espectro de mutaciones en el gen AGL de pacientes colombianos, lo cual es importante para ofrecer un apropiado pronóstico, y asesoría genética al paciente y a su familia.

Abstract Introduction: Type III glycogen storage disease (GSD III) is an autosomal recessive disorder in which a mutation in the AGL gene causes deficiency of the glycogen debranching enzyme. The disease is characterized by fasting hypoglycemia, hepatomegaly and progressive myopathy. Molecular analyses of AGL have indicated heterogeneity depending on ethnic groups. The full spectrum of AGL mutations in Colombia remains unclear. Objective: To describe the clinical and molecular characteristics of ten Colombian patients diagnosed with GSD III. Materials and methods: We recruited ten Colombian children with a clinical and biochemical diagnosis of GSD III to undergo genetic testing. The full coding exons and the relevant exon-intron boundaries of the AGL underwent Sanger sequencing to identify mutation. Results: All patients had the classic phenotype of the GSD III. Genetic analysis revealed a mutation p.Arg910X in two patients. One patient had the mutation p.Glu1072AspfsX36, and one case showed a compound heterozygosity with p.Arg910X and p.Glu1072AspfsX36 mutations. We also detected the deletion of AGL gene 3, 4, 5, and 6 exons in three patients. The in silico studies predicted that these defects are pathogenic. No mutations were detected in the amplified regions in three patients. Conclusion: We found mutations and deletions that explain the clinical phenotype of GSDIII patients. This is the first report with a description of the clinical phenotype and the spectrum of AGLmutations in Colombian patients. This is importantto provide appropriate prognosis and genetic counseling to the patient and their relatives.

Aristotelia chilensis, rutin and quercetin amielorates acute vascular endothelial dysfunction in rat thoracic aorta exposed to oxidative stress / Aristotelia chilensis, rutina y quercetina alivia la disfunción endothelial aguda en aorta torácica de rata expuesta a estrés oxidativo

The role of endothelial dysfunction (ED) and excessive oxidative stress in the development of cardiovascular diseases has recently been highlighted. The present study examined the effect of a hydro-ethanolic extract of a Chilean berry Aristotelia chilensis (folk name “maqui), and its flavonoids antioxidants rutin (RT) and quercetin (QC), on the responsivity of blood vessels exposed to oxidative stress. For functional relaxation studies, the isolated rat aortic rings (RARs) of male Wistar rats were used. To model acute oxidative stress in vitro, RARs were incubated in Krebs' solution containing either high glucose (46 mM) or the O2- generator pyrogallol (50 uM). RARs exposed to either glucose or pyrogallol displayed attenuated maximum vasorelaxation responses to the endothelium-dependent vasodilator acetylcholine (Ach), and reduced nitric oxide (NO) bioavailability. These effects were fully suppressed by pre-incubation of the vessels with the maqui berry extract (MBE), RT and QC. Both, removal of the endothelium and the addition of nitric oxide synthase (NOS) inhibitor, NG-Nitro-L-Arginine Methyl Ester (L-NAME) increased the phenylephrine (Phe) response. These observation suggest that MBE, QC and RT may protect against high glucose and pyrogallol-induced endothelial dysfunction via enhanced the generation and bioavailability of NO...

Últimamente, el rol de la disfunción endotelial y el estrés oxidativo en el desarrollo de enfermedades cardiovasculares ha adquirido un importante foco de atención. El presente estudio examinó el efecto de un extracto hidroalcohólico de frutos de Aristotelia chilensis (nombre vulgar: maqui) y su flavonoides antioxidantes rutina y quercetina sobre la capacidad de respuesta de los vasos sanguíneos expuestos a estrés oxidativo. Para este estudio se utilizaron anillos de aorta aislados de ratas Wistar macho. Los anillos se incubaron en solución Krebs con alta glucosa (46 mM) o con el generador de radical superóxido pirogalol (50 uM) para generar el estrés oxidativo agudo in vitro. Aortas expuestas a glucosa o pirogalol exhibieron una significativa disminución de la respuesta vasorelajante dependiente del endotelio cuando se estimulan con acetilcolina, reduciendo significativamente la biodisponibilidad de óxido nítrico. Dicho fenómeno fue revertido cuando los anillos se pre-incubaron tanto, con el extracto como con los flavonoides rutina y quercetina. La eliminación del endotelio y la presencia de inhibidor de la óxido nítrico sintasa (NG - nitro-L - arginina metil éster, L-NAME) aumentó la respuesta de la fenilefrina. Los hallazgos en este estudio sugieren que el extracto de maqui, quercetina y rutina pueden evitar la disfunción endotelial generada por alta glucosa y pirogalol posiblemente debido a su potente capacidad antioxidante que permite una mayor producción o biodisponibilidad de óxido nítrico...