Children and adults affected by Cri du Chat syndrome: Care's recommendations

Our objective is to collect data and information for a better care and follow up in Cri du Chat patients. We conducted a literature review in August 2017 and then discuss the outcomes within the ABC (Associazione Bambini Cri du Chat, Italian CdC families support group). A proposal for clinical, laboratory and imaging work up should be performed at various ages in CdC patients. Follow up and rehabilitation should continue lifelong as some improvements can be obtained also in older ages and not to lose acquired skills

Intervertebral disc and endplate cell characterisation highlights annulus fibrosus cells as the most promising for tissue-specific disc degeneration therapy

Degenerative processes of the intervertebral disc (IVD) and cartilaginous endplate lead to chronic spine pathologies. Several studies speculated on the intrinsic regenerative capacity of degenerated IVD related to the presence of local mesenchymal progenitors. However, a complete characterisation of the resident IVD cell populations, particularly that isolated from the endplate, is lacking. The purpose of the present study was to characterise the gene expression profiles of human nucleus pulposus (NPCs), annulus fibrosus (AFCs) and endplate (EPCs) cells, setting the basis for future studies aimed at identifying the most promising cells for regenerative purposes. Cells isolated from NP, AF and EP were analysed after in vitro expansion for their stemness ability, immunophenotype and gene profiles by large-scale microarray analysis. The three cell populations shared a similar clonogenic, adipogenic and osteogenic potential, as well as an immunophenotype with a pattern resembling that of mesenchymal stem cells. NPCs maintained the greatest chondrogenic potential and shared with EPCs the loss of proliferation capability during expansion. The largest number of selectively highly expressed stemness, chondrogenic/tissue-specific and surface genes was found in AFCs, thus representing the most promising source of tissue-specific expanded cells for the treatment of IVD degeneration

A Rare Case of Deletion in 2q24.1: Clinical Features and Response to Gh Hormone Treatment

Background: Chromosomal imbalances are often due to sub microscopic deletions or duplications not evidenced by conventional cytogenetic methods. Objective and hypotheses: CGH array can help in the diagnosis of severe short stature, associated with mental retardation and dysmorphisms. Method: We describe the clinical case of a 13.1-year-old girl, born at 35 weeks, from a triplets pregnancy. She was 127.5 cm (!K5 SDS), 33 kg (! K3 SDS); SPAN: 122 cm; PH2B2, bone age: 11 years; mild psychomotor delay, facial dysmorphism (malformed years with a low-set, microcephaly) and feet malformations (flexion deformities, broad halluces). Born SGA, with a growth velocity ! K3 SDS, a severe short stature she was a candidate to GH treatment. She started GH at the dosage of 0.035 mg/kg per day with a significant improvement of growth velocity. She had FSH, LH, TSH, fT4: in the normal range; low IGF-1 levels: 139 ng/ml (n.v. for age: 183–850). Results: CGH array evidenced a microdeletion of chromosome 2 (2q24.1), interesting genes UPP2, CCDC148, CCDC148-AS1, partially gene PKP4. MRI of CNS and pituitary revealed a small hypophysis with an intrasellar arachnoid cyst. After 11 months of GH treatment she was 134.8 cm (K3SDS), 37 kg; PH3B2. Conclusion: A few cases of deletion of 2q24 are reported in literature, and the association of low birth weight, growth delay, mental retardation, facial dysmorphism, cardiac malformations, feet and hands deformities is specific of this deletion. The mild phenotype of our patient could be explained by the small deletion (2q24.1). For this reason, it could be considered a continuous gene syndrome. At our knowledge this is the first case reported in the literature treated with GH and showing a satisfactory growth

The crucial role of FBXO28 in the pathogenesis of the 1q41q42 microdeletion syndrome

no abstract availabl

Genome-wide scan reveals genetic divergence in Italian Holstein cows bred within PDO cheese production chains

Abstract Dairy cattle breeds have been exposed to intense artificial selection for milk production traits over the last fifty years. In Italy, where over 80% of milk is processed into cheese, selection has also focused on cheese-making traits. Due to a deep-rooted tradition in cheese-making, currently fifty Italian cheeses are marked with the Protected Designation of Origin (PDO) label as they proved traditional land of origin and procedures for milk transformation. This study aimed to explore from a genetic point of view if the presence of such diverse productive contexts in Italy have shaped in a different manner the genome of animals originally belonging to a same breed. We analyzed high density genotype data from 1000 Italian Holstein cows born between 2014 and 2018. Those animals were either farmed in one of four Italian PDO consortia or used for drinkable milk production only. Runs of Homozygosity, Bayesian Information Criterion and Discriminant Analysis of Principal Components were used to evaluate potential signs of genetic divergence within the breed. We showed that the analyzed Italian Holstein cows have genomic inbreeding level above 5% in all subgroups, reflecting the presence of ongoing artificial selection in the breed. Our study provided a comprehensive representation of the genetic structure of the Italian Holstein breed, highlighting the presence of potential genetic subgroups due to divergent dairy farming systems. This study can be used to further investigate genetic variants underlying adaptation traits in these subgroups, which in turn might be used to design more specialized breeding programs