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Research provides first evidence for a possible cause of familial ALS

Amyotrophic lateral sclerosis (ALS) is a degenerative disease. The neurons responsible for movement begin to die and muscle control is progressively lost, leading to a fatal outcome.

Spain
Spanish
Oleksandra-sirozh
Vanesa-lafarga
Fernandez-capetillo
Francisco-luz
Ministry-of-science
Genomic-instability-group
Spanish-national-cancer-research-center
Caixa-foundation
Spanish-association-against-cancer
European-union

#VisualAbstract: Diagnosis of Arginine Vasopressin Deficiency using Hypertonic-Saline Stimulation versus Arginine Stimulation

Click here to read this study in NEJM. ©2023 2 Minute Medicine, Inc. All rights reserved. No works may be reproduced without expressed written consent from 2 Minute Medicine, Inc. Inquire about licensing here. No article should be construed as medical advice and is not intended as such by the authors or by 2 Minute Medicine, Inc.

Minute-medicine-inc
Arginine
Arginine-stimulation
Arginine-vasopressin-deficiency
Polydipsia
Polyuria
Polyuria-polydipsia-syndrome
Studygraphics

Hypertonic saline stimulation is superior to arginine for diagnosing AVP deficiency

1. In this prospective cohort study, hypertonic saline-stimulated copeptin was more accurate in diagnosing arginine vasopressin (AVP) deficiency than arginine-stimulated copeptin. 2. The diagnoses made by these tests were compared against final diagnoses by two independent endocrinologists. Evidence Rating Level: 1 (Excellent) Study Rundown: AVP deficiency, formerly known as central diabetes insipidus, is difficult to

Minute-medicine-inc
Rating-level
Confidence-interval
Arginine
Arginine-stimulated-copeptin
Avp-deficiency
Central-diabetes-insipidus
Chronic-disease
Endocrinology
Hypertonic-saline
Hypertonic-saline-stimulation

Genetic mutation in OXR1 gene linked to brain development issues

Study investigates the effects of a loss-of-function mutation in the OXR1 gene on neurodevelopment and cellular functions in the human brain. The research shows that OXR1 deficiency impairs neural differentiation, increases sensitivity to oxidative stress, and alters histone methylation, impacting brain development and potentially contributing to neurological disorders.

Kittyfly-shutterstock
Genome-biology
Oxidation-resistance
Arginine
Utation
Ntioxidant
Poptosis
Rain
Fell
Na
Dna-damage

Gene therapy could reverse symptoms of rare, hereditary DOOR syndrome

A lot of research has been done over many decades on diseases that are widespread in large parts of the population, such as cancer and heart disease. As a result, treatment methods have improved enormously thanks to long-term research efforts on diseases that affect many people.

Norway
Oslo
Canada
Norwegian
Department-of-clinical
Oslo-university-hospital
Norwegian-university-of-science
Norwegian-university
Middle-east
Arginine
Rain

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