Identification of the novel HLA-A*02:01:189 allele.

HLA-A*02:01:189 differs from HLA-A*02:01:01:01 by one nucleotide substitution in Exon 3, codon 101 TGC > TGT.

Identification of the novel HLA-B*27:276 allele by next-generation sequencing.

The novel HLA-B*27:276 allele differs from HLA-B*27:05:02:05 by one nucleotide substitution in exon 1.

Identification of the novel HLA-A*30:221 allele by next-generation sequencing.

The novel HLA-A*30:221 allele differs from HLA-A*30:01:01:01 by one nucleotide substitution in Exon 7.

Identification of the novel HLA-DPA1*02:110:02 allele by next-generation sequencing.

The novel HLA-DPA1*02:110:02 allele differs from HLA-DPA1*02:01:01:06 by one nucleotide substitution in exon 4.

Identification of the novel HLA-DPA1*01:130 allele by next-generation sequencing.

The novel HLA-DPA1*01:130 allele differs from HLA-DPA1*01:03:01:03 by one nucleotide substitution in Exon 3.

Identification of the novel HLA-DPB1*1328:01 allele by next-generation sequencing.

The novel HLA-DPB1*1328:01 allele differs from HLA-DPB1*04:01:01:01 by one nucleotide substitution in exon 4.

Identification of the novel HLA-DPA1*01:88 allele by next-generation sequencing.

The novel HLA-DPA1*01:88 allele differs from HLA-DPA1*01:03:01:05 by one nucleotide substitution in Exon 3.

Systemic Catheter-Related Venous Thromboembolism in Children: Data From the Italian Registry of Pediatric Thrombosis.

Background: Central venous catheters (CVCs) represent one of the main risk factors for venous thrombotic events (VTEs) in children.

Methods: We studied the Italian Registry of Pediatric Thrombosis (RITI) with regard to systemic radiologically confirmed CVC-related VTEs (CVC-VTEs) occurred during 6.5 years in children aged 29 days to 18 years.

Identification of the novel HLA-B allele, HLA-B*44:532 by next-generation sequencing.

The novel HLA-B*44:532 allele differs from HLA-B*44:02:01:01 by one nucleotide substitution in Exon 3.

A new HLA-B allele, HLA-B*07:422.

The novel allele HLA-B*07:422 differs from HLA-B*07:02:01:01 by one nucleotide substitution in exon 4.

Identification of the novel HLA-DPA1 allele, DPA1*02:53 by next-generation sequencing.

The novel HLA-DPA1*02:53 allele differs from HLA-DPA1*02:01:01:02 by one nucleotide substitution in exon 3.

Identification of the novel HLA-DPA1, DPA1*01:56 by next-generation sequencing.

The novel HLA-DPA1*01:56 allele differs from HLA-DPA1*01:03:01:04 by one nucleotide substitution in Exon 3.

Identification of the novel HLA-DRB1*03:01:32 in an Italian patient.

The novel HLA-DRB1*03:01:32 allele differs from HLA-DRB1*03:01:01:01 by one nucleotide substitution in exon 4.

and other HLA-C alleles, as well as and genetic variants associate with optimal response to anti-IL-17A treatment in patients with psoriasis.

: Our pharmacogenomic study evaluated the influence of the presence/absence of genetic variants of psoriasis-risk loci on the clinical response to secukinumab. Differences in the single-nucleotide polymorphism (SNP) pattern characterizing HLA-Cw6 or HLA-Cw6 patient subpopulations, showing high or low responses to secukinumab, were also analyzed. : 417 SNPs were analyzed by Next-Generation Sequencing technology, in a cohort of 62 psoriatic patients and undergone secukinumab treatment.

Trends of anterior cruciate ligament reconstruction in children and young adolescents in Italy show a constant increase in the last 15 years.

Purpose: The aim of this 15-year nationwide study was to investigate the trend in ACL reconstructive surgeries in patients younger than 15 years old in Italy, as well as their social and economic impact.

Materials And Methods: The National Hospital Discharge records (SDO) collected by the Italian Ministry of Health in the 15-year period between 2001 and 2015 were analyzed. This contains anonymous data including patients' age, gender, ICD-9-CM codes for diagnosis and intervention, census region, region of hospitalization, length of the hospitalization, and public or private reimbursement.

Identification of the novel HLA-A*01:289 allele in an Italian patient.

The new allele HLA-A*01:289 differs from HLA-A*01:95 by one nucleotide substitution in exon 2.

The role of imaging in the skeletal involvement of mucopolysaccharidoses.

This article discusses the role of imaging modalities including radiography, multi-detector computed tomography, magnetic resonance imaging, and ultrasound in diagnosing and monitoring skeletal abnormalities in mucopolysaccharidoses (MPS). The advantages and disadvantages of these different imaging tools will be discussed, along with their feasibility in this class of patients. As the musculoskeletal involvement is common to all MPS and is one of the main reasons for seeking medical attention, an increased awareness among paediatricians, rheumatologists, orthopaedists, radiologists, and other musculoskeletal specialists on the possible spectrum of abnormalities observed could facilitate a timely diagnosis, an appropriate severity evaluation, and better management.

Are there any relations among transplant centre volume, surgical technique and anatomy for donor graft selection? Ten-year multicentric Italian experience on mini-invasive living donor nephrectomy.

Background: Selection of the right or left living donor kidney for transplantation is influenced by many variables. In the present multi centric study including 21 Italian transplant centres, we evaluated whether centre volume or surgical technique may influence the selection process.

Methods: Intra- and perioperative donor data, donor kidney function, and recipient and graft survival were collected among 693 mini-invasive living donor nephrectomies performed from 2002 to 2014.

Complement gene variants determine the risk of immunoglobulin-associated MPGN and C3 glomerulopathy and predict long-term renal outcome.

Background: Membranoproliferative glomerulonephritis (MPGN) is an uncommon cause of chronic nephropathy recently reclassified into immunoglobulin-associated MPGN (Ig-MPGN) and C3 glomerulopathy (C3G). In this study we aimed: (1) to evaluate the complement genetic and biochemical profile in patients with Ig-MPGN/C3G; (2) to investigate whether genetic variants and different patterns of complement activation (i.e.

Clinical Data of Neonatal Systemic Thrombosis.

Objective: To evaluate clinical data and associated risk conditions of noncerebral systemic venous thromboembolism (VT), arterial thromboembolism (AT), and intracardiac thromboembolism (ICT) in neonates.

Study Design: Data analysis of first systemic thromboembolism occurring in 75 live neonates (0-28 days), enrolled in the Italian Registry of Pediatric Thrombosis from neonatology centers between January 2007 and July 2013.

Results: Among 75 events, 41 (55%) were VT, 22 (29%) AT, and 12 (16%) ICT; males represented 65%, and 71% were preterm.