A5088010151- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
- Attention Deficit Hyperactivity Disorder
- RNA regulation and disease
- Peroxisome Proliferator-Activated Receptors
- Muscle Physiology and Disorders
- Bipolar Disorder and Treatment
- Renal and Vascular Pathologies
- RNA modifications and cancer
- Ion Transport and Channel Regulation
- Viral Infections and Immunology Research
- Amoebic Infections and Treatments
- Neurological diseases and metabolism
- Infectious Encephalopathies and Encephalitis
- Sirtuins and Resveratrol in Medicine
- Genetic Neurodegenerative Diseases
- RNA and protein synthesis mechanisms
- Renal Diseases and Glomerulopathies
- Hereditary Neurological Disorders
- interferon and immune responses
- Electrolyte and hormonal disorders
- Neuroendocrine regulation and behavior
- Neuroblastoma Research and Treatments
- Adipose Tissue and Metabolism
Hospital Universitario Ramón y Cajal
1993-2018
Instituto Ramón y Cajal de Investigación Sanitaria
2016
Instituto Cajal
2004
Abstract Plasma carnitine “insufficiency,” (plasma esterified to free ratio above 0.25) was found in 21 48 (43.8%) patients with mitochondrial myopathy, of whom 4 also showed both total and deficiencies plasma. In addition, plasma levels SCAC LCAC were higher myopathy than controls ( P < 0.001 <0.01, respectively). Patients diagnosed as having insufficiency or deficiency treated L‐carnitine (50–200 mg/kg per day four daily doses). Muscle weakness improved 19 20 patients, failure thrive...
Objectives/Goals: The identification of the cascade molecular and cellular events occurring during progression focal segmental glomerulosclerosis in human kidney biopsies from transplant (KTx) recipients (KTR) with normal function or recurrent FSGS to determine potential targets intervention therapy. Methods/Study Population: In this study, we evaluate associated primary both native kidneys. We collected biopsy samples (nNK, n = 3), functioning allografts (NKTx, (nFSGS, 1), (KTxFSGS, 5)....
ABSTRACT Background Pantothenate kinase‐associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design pilot‐test disease‐specific clinical rating scale for the assessment patients with pantothenate neurodegeneration. Methods In international cross‐sectional study, were examined at referral centers following standardized protocol. motor examination filmed, allowing 3 independent specialists movement...
We studied a patient with mitochondrial encephalomyopathy characterized by the presence of all cardinal features both myoclonic epilepsy and ragged-red fibers (MERRF) encephalomyopathy, lactic acidosis, strokelike episodes (MELAS) syndromes. Muscle biopsy showed (RRF). Some RRF were cytochrome c oxidase (COX)-negative while some others stained positive for COX. biochemistry revealed defects complexes I IV respiratory chain. Both muscle blood DNA from mutation at nucleotide position 3243 in...
Abstract Abnormal carnitine distribution in muscle was found 22 of 77 patients (29%), with mitochondrial myopathy. Furthermore, total (TC) and free (FC) levels were lower than controls ( P < 0.01). Muscle long‐chain acylcarnitines (LCAC) significantly increased these deficiency 31.5% lipid storage myopathy (LSM) 25.6% ragged‐red fibers (RRF). Therefore, can be even the absence LSM. TC FC respiratory chain defects those normal In contrast, LCAC 0.05). Carnitine did not differ...
Abscess formation in the prevesical or retropubic space is a rare condition. Secondary abscesses this area have been described adults after corrective surgical procedures done for urinary incontinence 1 and Mycobacterium tuberculosis infection. 2 To our knowledge only one case of spontaneous abscess associated with urachus cyst infection has reported. 3 Here, we describe 12-year-old girl. Case report. A girl was admitted to hospital 5-day history fever (39–40°C) malaise. The remarkable...
Introduccion. Existen numerosas evidencias geneticas y de neuroimagen que apoyan la presencia una alteracion neurobiologica en el trastorno por deficit atencion/hiperactividad (TDAH). Los transportadores vesiculares monoaminas (VMAT) son proteinas localizadas las vesiculas sinapticas, se encargan introducir aminas biogenas desde citoplasma celular al interior dichas vesiculas, para posteriormente poder ser liberadas. Desarrollo. Se han identificado clonado dos isoformas este transportador,...
We studied a patient with mitochondrial encephalomyopathy characterized by the presence of all cardinal features both myoclonic epilepsy and ragged-red fibers (MERRF) encephalomyopathy, lactic acidosis, strokelike episodes (MELAS) syndromes. Muscle biopsy showed (RRF). Some RRF were cytochrome c oxidase (COX)-negative, while some others stained positive for COX. biochemistry revealed defects complexes I IV respiratory chain. Both muscle blood DNA from mutation at nucleotide position 3243 in...