7 research outputs found
Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation.
No full textBackground: In GSDIa, glucose 6-phosphate (G6P) accumulates in the endoplasmic reticulum (ER); in GSDIb, G6P levels are reduced in ER. G6P availability directly modulates the activity of 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1), an ER-bound enzyme playing a key role in the development of the metabolic syndrome (MS). Objective: To evaluate the prevalence of MS and Insulin Resistance (IR) in GSDIa and GSDIb patients. Patients and Methods: This was a prospective study. All the enrolled patients were followed at the Department of Pediatrics "Federico II" University of Naples for 10 years. Clinical and biochemical parameters of MS and the presence of IR were recorded. The results were correlated with the biochemical parameters of GSDI-related metabolic control. 10 GSDIa patient (median age 12.10 ± 1.50), 7 GSDIb patients (median age 14.90 ± 2.20 were enrolled in the study. They were compared to 20 and 14 age and sex matched controls, respectively. 10 GSDIa patients (median age 24.60 ± 1.50) and 6 GSDIb patients (median age 25.10 ± 2.00) completed the 10-year-follow-up. At the end of the study the patients' data were compared to 10 and 6 age and sex matched controls, respectively. Results: At study entry, 20 % GSDIa patients had MS and 80 % showed 2 criteria for MS. GSDIa patients showed higher HOMA-IR than controls and GSDIb patients (p < 0.001, p < 0.05), respectively. Baseline ISI was lower in GSDIa than controls (p < 0.001). QUICKI was significantly lower in GSDIa than in controls (p < 0.001). At the end of the study 70 % of GSDIa patients had MS and 30 % showed 2 criteria for MS. HOMA-IR was higher in GSDIa than controls (p < 0.01). Baseline ISI was higher in GSDIb than controls (p < 0.005) and GSD1a (p < 0.05). QUICKI was lower in GSD1a patients than in controls (p < 0.03). VAI was higher in GSDIa patients than controls (p < 0.001) and GSDIb patients (p = 0.002). Conclusions: Our data showed high prevalence of IR and MS in GSDIa patients. We speculate a possible role of 11βHSD1 modulation by G6P availability. We suggest a routine metabolic assessment in GSDIa patients
Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance
No full textHereditary fructose intolerance (HFI) is a rare genetic disorder of fructose metabolism due to aldolase B enzyme deficiency. Treatment consists of fructose, sorbitol, and sucrose (FSS)-free diet. We explore possible correlations between daily fructose traces intake and liver injury biomarkers on a long-term period, in a cohort of young patients affected by HFI
Analysis of the Fecal Metabolomic Profile in Breast vs. Different Formula Milk Feeding in Late Preterm Infants
No full textHuman milk is the gold standard for infant nutrition, but when it is not available or insufficient to satisfy the needs of the infant, formula milk is proposed as an effective substitute. A prospective observational cohort study was conducted on late preterm infants fed with breast and two different formula milks. On this basis, they were divided into three groups: group FMPB (fed with formula + postbiotic), group FM (fed with standard formula), and group BM (breastfed). Stool samples for a metabolomic study were collected at T0 (5–7 days after birth), T1 (30 days of life), and T2 (90 days of life), giving rise to 74 samples analyzed via liquid chromatography coupled with high-resolution mass spectrometry. The T0, T1, and T2 LC-MS raw data were processed for Partial Least Square Discriminant Analysis (PLS-DA), followed by a statistical analysis. This preliminary study highlighted a good overlapping between the fecal metabolome of breast and substitute feeding systems, confirming the efficacy of the formula preparations as breast milk substitutes. Moreover, several similarities were also detected between the FMPB and BM metabolome, highlighting that the addition of a postbiotic to standard formula milk could be more effective and considered a better alternative to breast milk
A complicated association between two different genetic rare disorders: Cystic Fibrosis and Spinal Muscular Atrophy
No full textOvarian imaging radiomics quality score assessment: an EuSoMII radiomics auditing group initiative
No full textObjective
To evaluate the methodological rigor of radiomics-based studies using noninvasive imaging in ovarian setting.
Methods
Multiple medical literature archives (PubMed, Web of Science, and Scopus) were searched to retrieve original studies focused on computed tomography (CT), magnetic resonance imaging (MRI), ultrasound (US), or positron emission tomography (PET) radiomics for ovarian disorders’ assessment. Two researchers in consensus evaluated each investigation using the radiomics quality score (RQS). Subgroup analyses were performed to assess whether the total RQS varied according to first author category, study aim and topic, imaging modality, and journal quartile.
Results
From a total of 531 items, 63 investigations were finally included in the analysis. The studies were greatly focused (94%) on the field of oncology, with CT representing the most used imaging technique (41%). Overall, the papers achieved a median total RQS 6 (IQR, −0.5 to 11), corresponding to a percentage of 16.7% of the maximum score (IQR, 0–30.6%). The scoring was low especially due to the lack of prospective design and formal validation of the results. At subgroup analysis, the 4 studies not focused on oncological topic showed significantly lower quality scores than the others.
Conclusions
The overall methodological rigor of radiomics studies in the ovarian field is still not ideal, limiting the reproducibility of results and potential translation to clinical setting. More efforts towards a standardized methodology in the workflow are needed to allow radiomics to become a viable tool for clinical decision-making
