-
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...
-
Chapter
Newborns with Congenital Malformations
Congenital malformations are one of the main causes of the global burden of disease. Congenital malformations may result in disabilities that may be physical, intellectual, or developmental. These may be diagn...
-
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...
-
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...
-
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...
-
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...
-
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...
-
Article
A concave optimization-based approach for sparse multiobjective programming
The paper is concerned with multiobjective sparse optimization problems, i.e. the problem of simultaneously optimizing several objective functions and where one of these functions is the number of the non-zero...
-
Article
Open AccessClinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
Beckwith–Wiedemann syndrome is an overgrowth disorder characterized by variable clinical phenotypes and a complex molecular aetiology. This Consensus Statement summarizes recommendations for clinical indicatio...
-
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...
-
Article
Open AccessDecreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
ATRX is a severe X-linked disorder characterized by mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassemia. The disease is caused by mutations in ATRX gene, which encodes a prot...
-
Article
Open AccessPrevalence of hypospadias in Italy according to severity, gestational age and birthweight: an epidemiological study
Hypospadias is a congenital displacement of the urethral meatus in male newborns, being either an isolated defect at birth or a sign of sexual development disorders. The aim of this study was to assess the pre...
-
Article
Urinary tract abnormalities (UTA) and associated malformations: Data of the Emilia-Romagna Registry
An epidemiological study on the urinary tract anomalies (UTA) associated with other congenital malformations or syndromes ascertained by the Emilia-Romagna Registry on Congenital Malformations (IMER) among 209...
-
Article
Cerebrospinal fluid shunt infections in infants
Infection remains a major cause of morbidity and mortality following CSF shunt procedures. In this study 191 shunt procedures carried out from January 1981 to December 1992 in a series of 81 infants (less than...
