Publications by authors named "Sinziana Stanescu"
Sanfilippo syndrome, or mucopolysaccharidosis type III (MPS III), is a rare lysosomal disease caused by congenital enzymatic deficiencies in heparan sulfate (HS) degradation, leading to organ dysfunction. The most severe hallmark of MPS III comprises neurological alterations, although gastrointestinal symptoms (GISs) have also been shown to be relevant in many patients. Here, we explored the contribution of the gut microbiota to MPS III GISs.
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- - Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase, leading to glucosylceramide buildup, and it impacts women's health throughout different life stages, including delays in menarche and common issues like menorrhagia.
- - Pregnancy planning and genetic counseling are essential for patients to manage potential complications, such as organomegaly and bone or blood disorders, during and after pregnancy.
- - Women with Gaucher disease may experience early menopause, increasing the risk of osteopenia, and should be monitored closely for early signs of liver or renal neoplasms during routine screenings.
Article Synopsis
- Phenylketonuria (PKU) is a hereditary disorder that affects protein metabolism, first identified in newborn screenings, leading to earlier diagnosis and treatment for affected individuals.
- A case study focused on a 28-year-old woman with PKU highlights the complexities of her pregnancy, involving both her and her partner's PKU diagnoses, which have implications for the fetus.
- The findings stress the importance of careful pregnancy management and monitoring in women with PKU, suggesting the potential benefit of genetic studies in understanding fertility related to the condition.
This was a retrospective, multicenter study that aimed to report the characteristics of type 3 Gaucher disease (GD3) patients in Spain, including the genotype, phenotype, therapeutic options, and treatment responses. A total of 19 patients with GD3 from 10 Spanish hospitals were enrolled in the study (14 men, 5 women). The median age at disease onset and diagnosis was 1 and 1.
View Article and Find Full Text PDFImproving emergency department care of infants with acute bronchiolitis by reducing the use of unrecommended drugs: a quality-of-care initiative in a Spanish autonomous community.
Emergencias
February 2023
Article Synopsis
- The study evaluated a quality-of-care program in Spanish emergency departments aimed at reducing the use of unnecessary medications in infants with acute bronchiolitis.
- Data from two epidemic periods (2018 and 2019) showed a significant decrease in the use of treatments like salbutamol, epinephrine, and hypertonic saline after implementing the program.
- Despite the positive changes in treatment practices, variations between emergency departments indicate the need for ongoing training and assessment.
Objectives: We present the results of our experience in the diagnosis and follow up of the positive cases for propionic, methylmalonic acidemias and cobalamin deficiencies (PA/MMA/MMAHC) since the Expanded Newborn Screening was implemented in Madrid Region.
Methods: Dried blood samples were collected 48 h after birth. Amino acids and acylcarnitines were quantitated by MS/MS.
Article Synopsis
- Propionic acidaemia (PA) is a metabolic disorder caused by a lack of the enzyme propionyl-CoA carboxylase, leading to acute decompensation and potential long-term complications from mitochondrial dysfunction.
- A study involving seven PA patients aged 2.5 to 20 years examined the effects of Coenzyme Q10 (CoQ10) supplementation in the form of ubiquinol, showing that it corrected initially low plasma CoQ10 levels and was well tolerated.
- Supplementation resulted in significant increases in urinary citrate and the citrate/methylcitrate ratio, indicating potential improvements in mitochondrial function and anaplerosis, warranting further investigation for preventing chronic complications in PA.
Article Synopsis
- Hyperammonaemia is a serious metabolic issue that can lead to brain damage and death, often seen in small children due to genetic disorders but more commonly in adults as a result of liver disease, medications, or dehydration.
- The protocol aims to guide healthcare professionals on how to treat this condition effectively by emphasizing close monitoring, nutritional support, and timely use of medications and treatments.
- It recommends starting haemodialysis for ammonia levels above certain thresholds: >200−350 µmol/L for children under 18 months and >150−200 µmol/L for older patients.
Article Synopsis
- * A case study highlights a patient with severe metabolic acidosis, psychomotor delay, and a specific genetic mutation in the MCT1 gene (SLC16A1), suggesting mitochondrial dysfunction.
- * The condition not only causes ketoacidosis episodes but also includes lactic acidosis and neurologic delays, as seen through distinctive brain imaging findings like the absence of the corpus callosum.
The determination of acylcarnitines (AC) in dried blood spots (DBS) by tandem mass spectrometry in newborn screening (NBS) programs has enabled medium-chain acyl-coA dehydrogenase deficiency (MCADD) to be identified in presymptomatic newborns. Nevertheless, different confirmatory tests must be performed to confirm the diagnosis. In this work, we have collected and analyzed the NBS results and confirmatory test results (plasma AC, molecular findings, and lymphocyte MCAD activity) of forty individuals, correlating them with clinical outcomes and treatment, with the aim of obtaining useful diagnostic information that could be applied in the follow-up of the patients.
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- The study analyzes the outcomes of diagnosing inborn errors of metabolism (IEM) in newborns following the implementation of Expanded Newborn Screening from 2011 to 2019, where over 592,000 children were screened.
- Among those screened, 902 had abnormal results, and 222 confirmed cases of IEM were identified, including various conditions like aminoacidopathies, fatty acid oxidation (FAO) defects, and organic acidurias.
- Only 8.5% of the affected infants showed symptoms at the time of the newborn screening, and genetic testing confirmed the diagnosis in all except two cases of hyperphenylalaninemia (HPA).
Article Synopsis
- - Propionic acidemia is a metabolic disorder caused by a deficiency in the enzyme propionyl-CoA carboxylase, leading to disturbances in metabolic pathways such as the urea cycle and issues with ammonia detoxification.
- - An observational study conducted at Hospital Ramón y Cajal analyzed the amino acid profiles of 10 patients over two years, comparing data from stable states to episodes of metabolic crises involving ketosis and hyperammonemia.
- - Results showed significant reductions in plasma glutamine and alanine during crises, indicating impaired anaplerosis and suggesting broader impacts on metabolic pathways related to ammonia detoxification and urea cycle amino acid synthesis.
GLUT1 and COVID-19 deficiency syndrome.
Endocrinol Diabetes Nutr (Engl Ed)
December 2021
Background: Propionic acidemia (PA), an inborn error of metabolism, is caused by a deficiency in propionyl-CoA carboxylase. Patients have to follow a diet restricted in the propiogenic amino acids isoleucine (Ile), valine (Val), methionine (Met) and threonine (Thr); proper adherence can prevent and treat acute decompensation and increase life expectancy. However, chronic complications occur in several organs even though metabolic control may be largely maintained.
View Article and Find Full Text PDFBackground: Propionic acidemia (PA) is an inherited disorder caused by deficiency of propionyl CoA carboxylase. Most patients with this disorder are diagnosed during the neonatal period because of severe metabolic acidosis and hyperammonemia. Patients are required to undergo blood and urine analysis at least 3 to 4 times per year, depending on age and metabolic control.
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- Tandem mass spectrometry (MS/MS) has been used since 2011 in the Community of Madrid for newborn screening, detecting metabolic disorders from dried blood samples, covering 13 conditions related to amino acids and fatty acids.
- Over 592,000 newborns were screened between 2011 and 2019, resulting in 901 positive cases, with 230 diagnosed with 30 different inborn errors of metabolism, leading to an overall positive predictive value of 25.6%.
- The screening program was successful in identifying 93% of cases in the presymptomatic stage, demonstrating its effectiveness as a public health initiative.
Article Synopsis
- - Multiple acyl-CoA dehydrogenase deficiency is a genetic disorder that affects how the body processes amino acids and fatty acids, leading to various severity levels from lethal neonatal cases to milder forms treated with riboflavin.
- - The severe neonatal form leads to serious health issues like metabolic acidosis and high ammonia levels, with no effective treatment available.
- - A case study highlights a child who experienced a typical neonatal onset but had a favorable long-term outcome, showing significant improvement in ammonia levels and effective management during other illnesses using N-carbamylglutamate treatment.
Article Synopsis
- Niemann-Pick type C (NPC) disease is a rare genetic condition characterized by neurodegeneration, caused by mutations in the NPC1 or NPC2 genes that disrupt cholesterol trafficking in cells.
- Diagnosis relies on clinical suspicion, biomarker levels, and genetic studies, which can be challenging due to various genetic variants with unclear implications.
- In a study of 22 infants suspected of having NPC, it was found that 31.8% were confirmed to have the disease, and four new genetic variants were identified, all leading to significant structural changes in the protein but lacking functional activity.
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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- - 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.
Article Synopsis
- An 85-year-old patient was diagnosed with hyperglycerolemia caused by glycerol kinase deficiency (GKD) after experiencing polydipsia, polyuria, and severe hypertriglyceridemia for 27 years without pancreatitis.
- Diagnosis was confirmed through specific lab results, including elevated glycerol levels in plasma and urine, and a novel deletion in the glycerol kinase gene.
- Dietary changes—frequent, complex carbohydrate-rich meals without medication—were effective in alleviating the patient's symptoms.