Publications by authors named "A L Barbera"

Introduction: Fluid overload (FO), a state of pathologic positive cumulative fluid balance (CFB), is common in Pediatric Intensive Care Units (PICU) and associated with morbidity and mortality. Because different PICUs may have unique needs, barriers, and limitations to accurately report fluid balance (FB) and reduce FO, understanding the drivers of positive FB is needed. We hypothesize CFB >5% and >10% is common within initial days of PICU admission, but that reasons for high %CFB will vary across sites, as will barriers to accurate FB recording and opportunities to improve FB recording and management.

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Metabolic dysfunction-associated steatotic liver disease (MASLD) is the most common chronic liver disease worldwide and can progress to serious complications, including metabolic dysfunction-associated steatohepatitis (MASH), cirrhosis, end-stage liver disease, and hepatocellular carcinoma. Predisposing risk factors for MASH include obesity, type 2 diabetes, dyslipidemia, and metabolic syndrome. Patients with MASH often experience significant impairments in their health-related quality of life and other patient-reported outcomes (PROs), particularly in physical functioning domains, fatigue, and vitality.

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Introduction: Fetal growth restriction (FGR) affects about 3%-5% of term pregnancies. If prenatally detected and anterograde umbilical artery flow is preserved (stage I), it is recommended to deliver at term (≥ 37+0 weeks). In the absence of contraindications, the vaginal route is preferred, and labour induction is usually required.

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Article Synopsis
  • Biallelic mutations in the MME gene are linked to late-onset CMT2T, with recent findings suggesting heterozygous mutations may also contribute to varying degrees of axonal neuropathy severity.
  • The study involved 32 Italian patients, using neurological and genetic tests to assess the impact of MME variants, revealing that both biallelic and heterozygous patients experience similar symptoms but with biallelic patients showing earlier and more severe disease progression.
  • CM2T is characterized as a late-onset neuropathy primarily affecting older adults, with it being particularly relevant for those with biallelic mutations as they tend to show quick disease progression.
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Gestational diet has a long-dated effect not only on the disease risk in offspring but also on the occurrence of future neurological diseases. During ontogeny, changes in the epigenetic state that shape morphological and functional differentiation of several brain areas can affect embryonic fetal development. Many epigenetic mechanisms such as DNA methylation and hydroxymethylation, histone modifications, chromatin remodeling, and non-coding RNAs control brain gene expression, both in the course of neurodevelopment and in adult brain cognitive functions.

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