Publications by authors named "Ana I Vega"

Sclerosing bone disorders encompass a range of genetic and acquired diseases. The potential for bone metastases is often a significant concern, especially when multiple discrete lesions are present. Several non-malignant disorders can also produce similar patterns of bone abnormalities.

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Background: Bone tissue homeostasis relies on the coordinated activity of the bone-forming osteoblasts and bone-resorbing osteoclasts. Osteomesopyknosis is considered a distinctive rare sclerosing skeletal disorder of unelucidated pathophysiology and presumably autosomal dominant transmission. However, the causal genes are unknown.

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  • Chronic hypophosphatemia can be caused by various acquired disorders and genetic factors, but there is a lack of awareness regarding genetic causes in adults.
  • A study reviewed lab data from over 800,000 phosphorus analyses, focusing on patients aged 17-55 with low serum phosphorus, confirming hypophosphatemia in 39 individuals after excluding other causes.
  • The researchers found 14 patients with genetic variants linked to phosphate metabolism, with X-linked hypophosphatemia (XLH) being the most prevalent genetic cause, often presenting with noticeable skeletal issues.
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  • Low serum alkaline phosphatase levels indicate hypophosphatasia, but some patients have low levels without detectable genetic mutations, prompting a study on their quality of life.
  • Researchers assessed 35 patients with low alkaline phosphatase levels and 35 controls using questionnaires focusing on body pain, physical disability, and overall health-related quality of life.
  • Results showed that patients reported significantly higher body pain and worse health-related quality of life, with no differences between those with genetic mutations and those without.
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  • Alport syndrome (AS) is a genetic disorder with varying severity, categorized into X-linked, autosomal recessive, and autosomal dominant forms, each showing different clinical traits and progression.
  • This study analyzed 317 patients with autosomal dominant AS (ADAS) carrying mutations in COL4A3/4, revealing that most patients showed early symptoms like urinalysis changes before age 40, with adverse kidney events common between ages 30-70.
  • Findings indicate significant sex differences in the onset of end-stage kidney disease (ESKD), with males experiencing deterioration earlier than females, underscoring the need for consistent monitoring of patients with these mutations.
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Unlabelled: We present a family with a rare mutation of the LRP6 gene and for the first time provide evidence for its association with low bone mineral density.

Introduction: The Wnt pathway plays a critical role in bone homeostasis. Pathogenic variants of the Wnt co-receptor LRP6 have been associated with abnormal skeletal phenotypes or increased risk of cardiovascular events.

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Congenital lactic acidosis (CLA) is a rare condition in most instances due to a range of inborn errors of metabolism that result in defective mitochondrial function. Even though the implementation of next generation sequencing has been rapid, the diagnosis rate for this highly heterogeneous allelic condition remains low. The present work reports our group's experience of using a clinical/biochemical analysis system in conjunction with genetic findings that facilitates the taking of timely clinical decisions with minimum need for invasive procedures.

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Purpose: We report a patient with a human cationic amino acid transporter 2 (CAT-2) defect discovered due to a suspected arginase 1 deficiency observed in newborn screening (NBS).

Methods: A NBS sample was analyzed using tandem mass spectrometry. Screen results were confirmed by plasma and urine amino acid quantification.

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  • - The study emphasizes the importance of genetic analysis as a follow-up to suspected metabolic disorders found in newborns during screening in Spain, by utilizing advanced sequencing techniques like next-generation sequencing.
  • - Out of 141 DNA samples tested, 59% confirmed the suspected metabolic diseases, while other cases either showed single variants or no variants, and 11 false positives were recorded.
  • - The findings suggest that combining genetic analysis with biochemical tests enhances the diagnosis accuracy for metabolic disorders in newborns, potentially confirming more cases than traditional methods alone.
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Pathogenic mutations in DPAGT1 are manifested as two possible phenotypes: congenital disorder of glycosylation DPAGT1-CDG (also known as CDG-Ij), and limb-girdle congenital myasthenic syndrome (CMS) with tubular aggregates. UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosamine phosphotransferase (GPT), the protein encoded by DPAGT1, is an endoplasmic reticulum (ER)-resident protein involved in an initial step in the N-glycosylation pathway. The aim of the present study was to examine the effect of six variants in DPAGT1 detected in patients with DPAGT1-CDG, and the role of endoplasmic reticulum stress, as part of the search for therapeutic strategies to use against DPAGT1-CDG.

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  • Glycogen storage disease (GSD) encompasses a group of 23 genetic disorders affecting glycogen metabolism, with challenging diagnosis due to overlapping symptoms and lack of specific biomarkers, leading to reliance on costly and labor-intensive Sanger sequencing.
  • This study presents the effectiveness of massive parallel sequencing (targeted exome or clinical exome) for diagnosing GSD in patients, correlating genetic variants with their biochemical and clinical features.
  • The use of next-generation sequencing identified pathogenic mutations in 23 patients, including novel mutations in GSD-related genes and additional mutations in other genes linked to similar health issues, highlighting a more efficient approach to genetic diagnosis.
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Deficiency of phosphomannomutase (PMM2, MIM#601785) is the most common congenital disorder of glycosylation. Herein we report the genetic analysis of 22 Spanish PMM2 deficient patients and the functional analysis of 14 nucleotide changes in a prokaryotic expression system in order to elucidate their molecular pathogenesis. PMM2 activity assay revealed the presence of six protein changes with no enzymatic activities (p.

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The congenital disorders of glycosylation (CDG) are a group of diseases caused by genetic defects affecting N-glycosylation. The most prevalent form of CDG-type Ia-is caused by defects in the PMM2 gene. This work reports the study of two new nucleotide changes (c.

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Congenital disorders of glycosylation (CDG) comprise a family of inherited multisystemic disorders resulting from the deficiency of glycosylation pathways. N-glycosylation defects are classified as two biochemical and genetic established types, of which CDG-Ia is the most frequent. We performed 2-DE proteomic analysis on serum from two functional hemizygous CDG-Ia patients bearing T237M and D65Y missense changes.

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  • The study focuses on diagnosing congenital disorders of glycosylation (CDG) in children using serum percentage of carbohydrate-deficient transferrin (%CDT) along with IEF analysis of transferrin and alpha(1)-antitrypsin.
  • Researchers conducted around 8000 %CDT tests and set a threshold of 2.5% for identifying CDG cases, revealing a variety of specific CDG types among the patients tested.
  • The findings emphasize that using a combination of %CDT immunoassay and IEF is effective as an initial screening method for CDG, but further genetic analysis is needed for precise diagnosis.
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