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-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.

The new HLA-DQB1*05:304 allele identified in an Italian patient.

DQB1*05:304 allele was identical to DQB1*05:02:01 except for a single nucleotide substitution.

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-A*30:181 allele by next-generation sequencing.

HLA-A*30:181 differs from HLA-A*30:01:01 by one nucleotide substitution in Exon 4832 G to A.

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.

A new HLA-DQA1 allele, HLA-DQA1*01:26.

The novel allele HLA-DQA1*01:26 differs from HLA-DQA1*01:01:01:01 by one nucleotide substitution in exon 2.

Characterization of the novel HLA-DQA1*01:27 allele by sequencing-based typing.

HLA-DQA1*01:27 differs from HLA-DQA1*01:01:01:01 by one nucleotide substitution in codon 221 in exon 4.

Automatic detection of cataplexy.

Objective: Although being the most specific symptom of narcolepsy type 1 (NT1), cataplexy is currently investigated by clinical interview only, with potential diagnostic pitfalls. Our study aimed at testing the accuracy of an automatic video detection of cataplexy in NT1 patients vs. non-cataplectic subjects undergoing a standardized test with emotional stimulation.

Team Reading (Peer Review) of Suspicious/Positive Slides for Continuous Quality Improvement in Cervical-Vaginal Cytology: A Comparison between Methods and Indicators.

Aim: In 2013, the Local Health Unit Roma 2 ex C screening laboratory introduced a new set of indicators for quality assurance. We compare 2 sets of indicators based on routine multiple readings (peer review) for their ability to identify problems in single-reader accuracy.

Methods: All suspect slides were blindly reviewed by all the cytologists of the laboratory.

A nucleotide insertion in Exon 2 is responsible for a new HLA-DRB1 null allele, HLA-DRB1*14:166N.

DRB1*14 is identical to DRB1*14:54:01 except for a single nucleotide insertion of A in position 175 in Exon 2.

Sequence-based typing characterization of the novel HLA-DRB3*01:16 allele, identified in an Italian family.

The novel DRB1*01:16 allele differs for G to T substitution at position 595 from DRB3*01:01P.

Characterization of a novel HLA-DQB1*06 allele, HLA-DQB1*06:04:04.

The novel allele human leukocyte antigen(HLA)-DQB1*06:04:04 differs from HLA-DQB1*06:04:01 by a silent nucleotide substitution at codon 75 (TTG → CTG).

The novel HLA-A*03:143 allele, identified by sequence-based typing in an Italian family.

HLA-A*03:143 has one nucleotide change from A*03:01: 01:01 at nt 406 from G to C, resulting in an amino acid change at codon 112 of exon 3 from Gly to Arg.

The novel HLA-C*06:58 allele, identified by sequence-based typing in an Italian family.

The novel HLA-C allele C*06:58 shows one nucleotide change from C*06:02:01:01 at nt 366 from G to A, resulting in an amino acid change at codon 98 of exon 3 from Met to Ile.

Does the term 'trophic' actually mean anti-amyloidogenic? The case of NGF.

The term trophic is widely used to indicate a general pro-survival action exerted on target cells by different classes of extracellular messengers, including neurotrophins (NTs), a family of low-molecular-weight proteins whose archetypal member is the nerve growth factor (NGF). The pro-survival action exerted by NTs results from a coordinated activation of multiple metabolic pathways, some of which have only recently come to light. NGF has been shown to exert a number of different, experimentally distinguishable effects on neurons, such as survival, differentiation of target neurons, growth of nerve fibers and their guidance (tropism) toward the source of its production.

B vitamin deficiency promotes tau phosphorylation through regulation of GSK3beta and PP2A.

Neurofibrillary tangles (NFTs), composed of intracellular filamentous aggregates of hyperphosphorylated protein tau, are one of the pathological hallmarks of Alzheimer's disease (AD). Tau phosphorylation is regulated by the equilibrium between activities of its protein kinases and phosphatases; unbalance of these activities is proposed to be a reasonable causative factor to the disease process. Glycogen synthase kinase 3beta (GSK3beta) is one of the most important protein kinase in regulating tau phosphorylation; overexpression of active GSK3beta causes ADlike hyperphosphorylation of tau.

Activation of the amyloidogenic route by NGF deprivation induces apoptotic death in PC12 cells.

Nerve growth factor (NGF) exerts a trophic, antiapoptotic action on several neuronal targets, including the clonal cell line PC12. In the current study, we demonstrate that withdrawal of this neurotrophin from PC12 differentiated cells causes overproduction of amyloid-beta (Abeta) peptides, which are the most toxic protein fragments directly implicated in the development of Alzheimer disease (AD), concomitantly with cell death by apoptosis. Abeta production and apoptotic death, occurring after withdrawal from NGF-differentiated PC12 cells, are completely inhibited by beta- and gamma-secretase inhibitors and by antibodies directed against Abeta peptides, favouring maintenance of PC12 morphology and neuritic network.

Autoantibodies in patients with monoclonal gammopathies.

Although autoantibody activities are rather often associated to monoclonal gammopathies, only monoclonal immunoglobulins of the IgM isotype are really directed against autoantigens that are often polysaccharides or are formed by highly repetitive structures. This strict association is frequently revealed also by clinical manifestations of the autoimmune response generated by the monoclonal macroglobulin. Most monoclonal immunoglobulins of non-IgM isotype are instead totally inactive toward self-antigens, the autoantibody activity being instead associated, if present, to polyclonal immunoglobulins.

Granule neuron DNA damage following deafferentation in adult rats cerebellar cortex: a lesion model.

Neuronal programmed cell death is regulated by a neurotrophic supply from targets and afferent inputs. The relative contribution of each component varies according to neuronal type and age. We have previously reported that primary cultures of cerebellar granule cells undergo apoptosis when deprived of depolarising KCl concentrations, suggesting a significant role of afferent inputs in the control of cerebellar granule cells survival.

Neuroantibodies: ectopic expression of a recombinant anti-substance P antibody in the central nervous system of transgenic mice.

Recombinant antibodies are efficiently secreted by cells of the nervous system. Thus, their local expression in the CNS of transgenic mice could be used to perturb the function of the corresponding antigen. As a first application of this approach, we have generated transgenic mice that express antibodies against the neuropeptide substance P, under the transcriptional control of the promoter of the neuronal gene vgf.

A recombinant cell line expressing a form of the Y13-259 anti-p21ras antibody which binds protein A and may be produced as ascites.

We have recently reported the molecular cloning of the immunoglobulin genes encoding the variable regions of the rat anti-p21ras antibody, Y13-259. These genes were reassembled into expression vectors supplying DNA sequences encoding human gamma 1 and kappa constant domains, as well as the leader sequence for antibody secretion, thus yielding Hu-Y13-259, a secretory anti-p21ras antibody containing human constant regions. We now report the creation of a recombinant cell line, NS0/Hu-Y13-259/B6, secreting high levels of the Hu-Y13-259 Ig.