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        Hereditary kidney diseases associated with hypomagnesemia

        ( Felix Claverie-martin ),( Ana Perdomo-ramirez ),( Victor Garcia-nieto ) 대한신장학회 2021 Kidney Research and Clinical Practice Vol.40 No.4

        In the kidney, a set of proteins expressed in the epithelial cells of the thick ascending loop of Henle and the distal convoluted tubule directly or indirectly play important roles in the regulation of serum magnesium levels. Magnesium reabsorption in the thick ascending loop of Henle occurs through a passive paracellular pathway, while in the distal convoluted tubule, the final magnesium concentration is established through an active transcellular pathway. The players involved in magnesium reabsorption include proteins with diverse functions including tight junction proteins, cation and anion channels, sodium chloride cotransporter, calcium-sensing receptor, epidermal growth factor, cyclin M2, sodium potassium adenosine triphosphatase subunits, transcription factors, a serine protease, and proteins involved in mitochondrial function. Mutations in the genes that encode these proteins impair their function and cause different rare diseases associated with hypomagnesemia, which may lead to muscle cramps, fatigue, epileptic seizures, intellectual disability, cardiac arrhythmias, and chronic kidney disease. The purpose of this review is to describe the clinical and genetic characteristics of these hereditary kidney diseases and the current research findings on the pathophysiological basis of these diseases.

      • KCI등재

        Magnetic Resonance Myocardial Feature Tracking in Transfusion-Dependent Myelodysplastic Syndrome

        Marta Alonso-Fernandez-Gatta,Ana Martin-Garcia,Maria Diez-Campelo,Agustin C. Martin-Garcia,Manuel Barreiro-Pérez,Félix Lopez-Cadenas,Elena Diaz-Pelaez,Pedro L. Sanchez 한국심초음파학회 2021 Journal of Cardiovascular Imaging (J Cardiovasc Im Vol.29 No.4

        BACKGROUND: Myocardial deformation with echocardiography allows early detection of systolic dysfunction and is related to myocardial iron overload (MIO) determined by T2* in hereditary anemias under transfusion support. Our aim was to analyze the diagnostic and prognostic usefulness of magnetic resonance feature tracking (MR-FT) myocardial strain in low-risk myelodysplastic syndromes (LR-MDS) patients. METHODS: Prospective study in transfusion-dependent LR-MDS patients and healthy controls who underwent a cardiac MR-FT. We analyzed the relationships between strain MR-FT and iron overload parameters and its prognostic impact in cardiovascular events and/or death. RESULTS: Thirty-one patients and thirteen controls were included. MIO (T2* < 20 ms) was detected in 9.7% of patients. Left ventricular global longitudinal strain (LV-GLS) by MR-FT was pathological (> −19.3%) in 32.3% of patients. Less negative strain values correlated with lower T2* (R = −0.37, p = 0.033) and native myocardial T1 (R = −0.39, p = 0.031) times. LV-GLS by MR-FT was significantly associated with higher incidence of the combined cardiovascular events and/or all-cause death (p = 0.047), with a cut-off value of −17.7% for predicting them (63% sensitivity and 81% specificity, area under the curve = 0.69). After adjusting analysis including demographic, biomarkers and imaging variables, a higher LV-GLS value by MR-FT remained as predictor of combined event in transfusion-dependent LR-MDS patients (hazard ratio, 0.4; confidence interval, 0.15–0.98; p = 0.045). CONCLUSIONS: Longitudinal myocardial strain by MR-FT in LR-MDS patients is associated to MIO and correlates with adverse events in the follow-up, what could serve as a prognostic tool.

      • KCI등재

        Impact of Cassia acutifolia Infusion on Glucose Levels in Obesity and Diabetes Rat Model

        Raffoul-Orozco, Abdel Kerim,Avila-Gonzalez, Ana Elisa,Barajas-Vega, Jessica Lucia,Rodriguez-Razon, Christian Martin,Garcia-Cobian, Teresa Arcelia,Ramirez-Lizardo, Ernesto Javier,Rubio Arellano, Edy Da KOREAN PHARMACOPUNCTURE INSTITUTE 2017 Journal of pharmacopuncture Vol.20 No.3

        Objectives: The aim of this study was to investigate the effects of Cassia acutifolia on the obesity and the glucose levels in a rat model of obesity and diabetes. Methods: By random selection, 36 Wistar male rats were divided in two control groups, the positive and the negative control groups, and into four experimental groups receiving different infusions of Cassia acutifolia in water ad libitum. Results: The results revealed a statistically significant anti-obesogenic effect (P = 0.02), although this was not considered clinically significant. Additionally, Cassia acutifolia lowered the glucose levels by 30 mg/dL to 90 mg/dL (P = 0.05). However, we observed adverse effects in the liver, a two-fold increase in transaminase levels (P = 0.002), and in the kidneys, decreased creatinine levels (P = 0.001), and these adverse effects had no viable explanation. Conclusion: Cassia acutifolia has anti-hyperglycemic effects in obese diabetic rats. However, Cassia acutifolia also has adverse effects, so it should not be administered to patients.

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