Abstract: Introduction: Danon syndrome was first described by Danon MJ in 1981. This rare disease is a triad consisting of dilated cardiomyopathy, myopathy and mental retardation. The etiology of the disease is associated with mutations in the LAMP2 gene on chromosome X. To date, only mutations in the ...
La displasia fibrosa ósea es un trastorno no hereditario del desarrollo esquelético caracterizado por una proliferación anormal de fibroblastos y diferenciación deficiente de osteoblastos que conduce a un reemplazo del tejido óseo esponjoso por tejido conectivo fibroso. Es producida por una mutació...
Anomalías Congénitas,
Calcio/uso terapéutico,
Células Madre Mesenquimatosas/patología,
Diagnóstico Diferencial,
Difosfonatos/administración & dosificación,
Difosfonatos/efectos adversos,
Displasia Fibrosa Craneofacial/etiología,
Displasia Fibrosa Ósea/diagnóstico por imagen,
Displasia Fibrosa Ósea/etiología,
Displasia Fibrosa Ósea/genética,
Displasia Fibrosa Ósea/sangre,
Displasia Fibrosa Poliostótica/diagnóstico por imagen,
Displasia Fibrosa Ósea/tratamiento farmacológico,
Displasia Fibrosa Monostótica/etiología,
Displasia Fibrosa Poliostótica/etiología,
Fracturas Óseas/patología,
Hipofosfatemia/sangre,
Manejo del Dolor,
Mutación/genética,
Osteogénesis/genética,
Osteosarcoma/etiología,
Osteomalacia/complicaciones,
Quistes Óseos Aneurismáticos/etiología,
Vitamina D/uso terapéutico
A recent study showed that infectivity of Zika virus (ZIKV) Asian genotype was enhanced by an alanine-to-valine amino acid substitution at residue 188 of the NS1 protein, but the precise time and location of origin of this mutation were not formally estimated. Here, we applied a Bayesian coalescent-based...
BACKGROUND Mycobacterium abscessus complex (MABC) includes species with high resistance rates among mycobacterial pathogens. In fact, MABC infections may not respond to clarithromycin treatment, which has historically been very effective against MABC infection. Molecular markers have been proposed to det...
Antibacterianos/farmacología,
Antibacterianos/farmacología,
Claritromicina/farmacología,
Claritromicina/farmacología,
Farmacorresistencia Bacteriana/efectos de los fármacos,
Farmacorresistencia Bacteriana/efectos de los fármacos,
Farmacorresistencia Bacteriana/genética,
Farmacorresistencia Bacteriana/genética,
Genes Bacterianos,
Genes Bacterianos,
Pruebas de Sensibilidad Microbiana,
Pruebas de Sensibilidad Microbiana,
Mutación/genética,
Mutación/genética,
Mycobacterium/efectos de los fármacos,
Mycobacterium/efectos de los fármacos,
Mycobacterium/genética,
Mycobacterium/genética
Abstract Infection by hepatitis B virus (HBV) is a worldwide public health problem. Chronic HBV infection with high viral replication may lead to cirrhosis and/or hepatocellular carcinoma. Mutant HBV strains, such as the HBV A1762T/G1764A double mutant, have been associated with poor prognosis and higher...
Maturity-Onset Diabetes of the Young (MODY) refers to a heterogeneous group of monogenic diabetes. Unlike other types of MODY characterized by genetic defects in transcription factors, MODY 2 is triggered by metabolic alterations caused by mutations of glucokinase (GCK), the first enzyme of the glycolyti...
ABSTRACT Objective To verify the incidence of the G679A mutation in exon 2 of the gene inhibin alpha (INHA), in women with secondary amenorrhea and diagnosis of premature ovarian insufficiency, and in controls. Methods A 5mL sample of peripheral blood was collected from all study participants in an E...
Frontotemporal Dementia (FTD) and Motor Neuron Disease (MND) may share similar pathogenic mechanisms. An abnormal hexanucleotide expansion in C9orf72 gene is the most common genetic abnormality of these conditions and explains their concurrence in the same family. We report a 77-year-old female presentin...
Burguêz, Daniela;
Oliveira, Camila Maria de;
Rockenbach, Marcio Aloísio Bezerra Cavalcanti;
Fussiger, Helena;
Vedolin, Leonardo Modesti;
Winckler, Pablo Brea;
Maestri, Marcelo Krieger;
Finkelsztejn, Alessandro;
Santorelli, Filippo Maria;
Jardim, Laura Bannach;
Saute, Jonas Alex Morales.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset, neurodegenerative disorder caused by mutations in SACS, firstly reported in Quebec, Canada. The disorder is typically characterized by childhood onset ataxia, spasticity, neuropathy and retinal hypermyelination...
Brasil,
Proteínas de Choque Térmico/genética,
Imagen por Resonancia Magnética,
Espasticidad Muscular/diagnóstico por imagen,
Espasticidad Muscular/genética,
Mutación/genética,
Linaje,
Fenotipo,
Ataxias Espinocerebelosas/congénito,
Ataxias Espinocerebelosas/diagnóstico por imagen,
Ataxias Espinocerebelosas/genética
ABSTRACT Progressive Familial Intrahepatic Cholestasis type 2 (PFIC2) is a rare cholestatic disorder diagnosed in infancy or childhood that can lead to severe hepatic fibrosis and liver failure. Mutations in the ABCB11 gene result in a deficiency of the bile salt export protein (BSEP) and accumulation of...
