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Article
Open AccessStructural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children
Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sl...
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Article
Open AccessAldosterone-progesterone relationship in sexually intact Chihuahua bitches
Aldosterone represents an important target of heart failure therapy and may be a valuable indicator of the renin-angiotensin-aldosterone system activity. However, its assessment might be challenging because of...
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Article
Open AccessDown Syndrome: how to communicate the diagnosis
Communicating the diagnosis of Down Syndrome to a couple of parents is never easy, whether before or after birth. As doctors, we must certainly rely on our own relational skills, but it is also necessary to be...
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Chapter and Conference Paper
Usability Evaluation of Mixed Reality Applications in VET Training
This paper presents a usability study of wearable and handheld Mixed Reality and hypervideo technologies to support procedural learning in the vocational education and training context. As a case study an appl...
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Article
Open AccessPartial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association
Down syndrome (DS) is caused by the presence of an extra copy of full or partial human chromosome 21 (Hsa21). Partial (segmental) trisomy 21 (PT21) is the duplication of only a delimited region of Hsa21 and ca...
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Article
Database development and survival analysis in a clinical and historical cohort of dogs affected by myxomatous mitral valve disease treated or not with pimobendan using causal inference techniques
The aim of this work was to retrospectively evaluate the influence of pimobendan on the survival time (ST) of dogs with myxomatous mitral valve disease at different stages using an Inverse Probability Weightin...
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Article
Open AccessA reassessment of Jackson’s checklist and identification of two Down syndrome sub-phenotypes
Down syndrome (DS) is characterised by several clinical features including intellectual disability (ID) and craniofacial dysmorphisms. In 1976, Jackson and coll. identified a checklist of signs for clinical di...
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Article
Open AccessCognitive profiles in children and adolescents with Down syndrome
The Down syndrome (DS) phenotype is usually characterized by relative strengths in non-verbal skills and deficits in verbal processing, but high interindividual variability has been registered in the syndrome....
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Article
Open AccessDiagnostic challenges of an incidental finding: case report of definitely-congenital glioblastoma multiforme in a very preterm infant
Congenital brain tumors are extremely rare in the neonatal population, and often associated with a poor prognosis. The diagnostic suspicion is often aroused at antenatal scans or postnatally, if clinical signs...
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Article
Open AccessThe transcriptome profile of human trisomy 21 blood cells
Trisomy 21 (T21) is a genetic alteration characterised by the presence of an extra full or partial human chromosome 21 (Hsa21) leading to Down syndrome (DS), the most common form of intellectual disability (ID...
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Article
Open AccessOne-carbon pathway and cognitive skills in children with Down syndrome
This work investigates the role of metabolite levels in the intellectual impairment of subjects with Down syndrome (DS). Homocysteine, folate, vitamin B12, uric acid (UA), creatinine levels and MTHFR C677T genoty...
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Article
Open AccessFactors affecting the urinary aldosterone-to-creatinine ratio in healthy dogs and dogs with naturally occurring myxomatous mitral valve disease
Chronic renin-angiotensin-aldosterone system (RAAS) activation in course of heart diseases contributes to cardiac remodeling and heart failure. Myxomatous mitral valve disease (MMVD) is characterized by differ...
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Article
Open AccessPlasma metabolome and cognitive skills in Down syndrome
Trisomy 21 (Down syndrome, DS) is the main human genetic cause of intellectual disability (ID). Lejeune hypothesized that DS could be considered a metabolic disease, and we found that subjects with DS have a s...
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Article
Open AccessPlasma and urinary metabolomic profiles of Down syndrome correlate with alteration of mitochondrial metabolism
Down syndrome (DS) is caused by the presence of a supernumerary copy of the human chromosome 21 (Hsa21) and is the most frequent genetic cause of intellectual disability (ID). Key traits of DS are the distinct...
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Article
Open AccessSerum proteomic profiles in CKCS with Mitral valve disease
Myxomatous mitral valve disease (MVD) is the most common acquired heart disease in dogs, and the Cavalier King Charles Spaniel (CKCS) is the most studied breed because of the high prevalence, early onset and h...
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Article
Is urinary neutrophil gelatinase-associated lipocalin able to predict acute kidney injury episodes in very low birth weight infants in clinical settings?
We evaluated the potential utility of elevated urinary neutrophil gelatinase-associated lipocalin (UNGAL) concentration as a screening test for early identification of acute kidney injury (AKI) in very low bir...
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Article
Open AccessSerum creatinine concentration in very-low-birth-weight infants from birth to 34–36 wk postmenstrual age
Serum creatinine (s[Cr]) reference ranges for very-low-birth-weight (VLBW) infants must account for physiologic changes in the first months of life.
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Chapter
Trattamento dell’empiema
L’empiema viene definito come un accumulo di liquido infetto in una cavità pleurica.
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Article
Lower gastrointestinal bleeding in a newborn caused by isolated intestinal vascular malformation
We report a 3-week-old neonate with an intestinal vascular malformation. The usual investigations performed for the examination of lower gastrointestinal bleeding had negative results, but ultrasound revealed...
