24 documents found, page 1 of 3

Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants an...

Niemann-Pick type C (NPC, ORPHA: 646) is a neuro-visceral, psychiatric disease caused predominantly by pathogenic variants in the NPC1 gene or seldom in NPC2. The rarity of the disease, and its wide range of clinical phenotypes and ages of onset, turn the diagnosis into a significant challenge. Other than the detailed clinical history, the typical diagnostic work-up for NPC includes the quantification of pathog...

Exosomal microRNAs as possible biomarkers for a rare disease affecting lipids

Exosomes mediate the communication between cells and the characterization of their content can provide important insights into health and disease. Their cargo includes proteins, lipids and nucleic acids (including microRNAs (miRNAs)). miRNAs regulate many cellular processes, including metabolism. (...)

Congenital disorders of glycosylation

Congenital disorders of glycosylation are a highly variable, rapidly expanding family of genetic diseases that result from defects in the synthesis of glycans. The vast majority of these monogenic diseases are inherited in an autosomal recessive way, but some types follow an autosomal dominant or X-linked inheritance. The present work aimed to review the state of the art of congenital disorders of glycosylation...

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein ...

Background: Niemann-Pick type C (NPC, MIM #257220) is a neuro-visceral disease, caused predominantly by pathogenic variants in the NPC1 gene. Here we studied patients with clinical diagnosis of NPC but inconclusive results regarding the molecular analysis. Methods: We used a Next-Generation Sequencing (NGS)-panel followed by cDNA analysis. Latter, we used massively parallel single-cell RNA-seq (MARS-Seq) to add...

Transcriptomics profiling of Niemann-Pick type C patients: activation of the un...

Background: Niemann-Pick type C (NP-C) is a neurodegenerative Lysosomal Storage Disease (LSD) with a heterogeneous clinical presentation secondary to abnormal intracellular accumulation of cholesterol. We have studied a patient with clinical diagnosis of NP-C but presenting inconclusive results regarding biomarkers testing and molecular analysis. To better characterize this patient, we have performed NGS-based ...

Genomics and transcriptomics approach - diagnosis of a challenging case of Niem...

NP-C is a neurodegenerative Inherited Metabolic Disease with a heterogeneous clinical presentation, and due to mutations in either the NPC1 or NPC2 genes.We have studied a patient with clinical diagnosis of NP-C but presenting inconclusive results regarding molecular analysis.To better characterize this patient, we have performed NGS-based technologies (targeted DNA sequencing and single cell-RNA sequencing).Fo...

Assessing Niemann-Pick Type C (NP-C) through a multi-omics approach genomic and...

Niemann-Pick type C (NP-C) is a neurodegenerative Inherited Metabolic Disease with a heterogeneous clinical presentation, due to mutations in either the NPC1 or NPC2 genes. We studied patients with clinical diagnosis of NP-C but presenting inconclusive results regarding biomarkers testing and molecular analysis. Using NGS- targeted DNA sequencing we have identified some novel putative mutations and subsequent c...

FABRY DISEASE IN PORTUGAL – INSIGHTS FROM THE MALE PATIENTS

PORTUGUESE CASUISTIC OF MUCOPOLYSACCHARIDOSES WITH CARDIAC MANIFESTATIONS

Síndrome dismórfico em recém-nascido com hipocolesterolemia

Introdução: São diversas as patologias causadas por erros na biossíntese do colesterol, sendo a síndrome de Smith-Lemli-Opitz a mais frequente. Caso Clínico: Lactente, sexo masculino internado aos 31 dias de vida por dificuldades alimentares e má progressão ponderal. Apresentava síndrome dismórfica (anomalias esqueléticas pós-axiais), hipotonia axial, movimentos espontâneos e reflexos débeis Do estudo realizado...