Genetic and metabolic urgencies in the neonatal intensive care unit: maple syrup urine disease [PDF]
, 2015 La enfermedad de la orina con olor a jarabe de arce (EOJA) es un trastorno hereditario del metabolismo de aminoácidos ramificados causada por mutaciones en el complejo mitocondrial Deshidrogenasa de Cetoácidos de Cadena Ramificada (BCKDH).
Grupo de Nutrición, Genética y Metabolismo, +2 more
core +1 more source
In Vivo Assessment of Hypertensive Nephrosclerosis Using Ultrasound Localization Microscopy [PDF]
, 2021 Purpose: As a typical chronic kidney disease (CKD), hypertensive nephrosclerosis (HN) is a common syndrome of hypertension, characterized by chronic kidney microvascular damage. Early diagnosis of microvascular damage using conventional ultrasound imaging encounters challenges in sensitivity and specificity owing to the inherent diffraction limit ...
arxiv +1 more source
Ataxia in children: early recognition and clinical evaluation [PDF]
, 2017 Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele +6 more
core +1 more source
Branched-Chain Amino Acid Negatively Regulates KLF15 Expression via PI3K-AKT Pathway. [PDF]
, 2017 Recent studies have linked branched-chain amino acid (BCAA) with numerous metabolic diseases. However, the molecular basis of BCAA's roles in metabolic regulation remains to be established.
Dong, Weibing +5 more
core +2 more sources
Urine Microscopic Image Dataset [PDF]
arXiv, 2021 Urinalysis is a standard diagnostic test to detect urinary system related problems. The automation of urinalysis will reduce the overall diagnostic time. Recent studies used urine microscopic datasets for designing deep learning based algorithms to classify and detect urine cells. But these datasets are not publicly available for further research.
arxiv
Maple syrup urine disease: Role of diffusion-weighted magnetic resonance imaging [PDF]
Maple syrup urine disease (MSUD)/leucine encephalopathy is an inborn error of amino acid metabolism resulting in neurotransmitter depletion, disrupted brain growth and development.
Narra, Ramakrishna +3 more
core +2 more sources
Branched-chain alpha-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes [PDF]
, 2020 Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain alpha-ketoacid dehydrogenase activity, and here delineate essential clinical and biochemical aspects of the maple syrup urine disease (MSUD ...
Strauss, Kevin A.
core +1 more source
New developments in the treatment of hyperammonemia: emerging use of carglumic acid [PDF]
, 2011 Hyperammonemia is a true neonatal emergency with high toxicity for the central nervous system and developmental delay. The causes of neonatal hyperammonemia are genetic defects of urea cycle enzymes, organic acidemias, lysinuric protein intolerance ...
Daniotti, Marta +3 more
core +3 more sources
Applied Sciences, 2020 Metabolic errors are inherited diseases, where genetic defects prevent a metabolic path, ending up in enzyme malfunction. In correspondence to its remaining or plenitude fall of enzymatic potency, there is an amassment of dangerous metabolites near the ...
Sophia Karastogianni, S. Girousi
semanticscholar +1 more source
Lens free holographic imaging for urinary tract infection screening [PDF]
arXiv, 2022 Urinary tract infections (UTIs) are a common condition that can lead to serious complications including kidney injury, altered mental status, sepsis, and death. Laboratory tests such as urinalysis and urine culture are the mainstays of UTI diagnosis, whereby a urine specimen is collected and processed to reveal its cellular and chemical composition ...
arxiv