Antenatal description of large 4q13.2q21.23 deletion and outcomes.

Background: 4q21 microdeletion syndrome is an emergent non-recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech. Deletions occur in clusters along 4q interstitial or terminal regions. 4q chromosomal aberrations are variable in type, size, and breakpoint.

A series of 7 cases of patients with narcolepsy with hypocretin deficiency without the HLA DQB1*06:02 allele.

Study Objectives: We report data collected from 2 reference European sleep centers on a series of patients with narcolepsy with hypocretin-1 deficiency and absence of the human leukocyte antigens (HLA) DQB1*06:02 allele.

Methods: Clinical data, HLA DQ markers, and cerebrospinal fluid assessments were collected retrospectively from Caucasian patients with a diagnosis of narcolepsy type 1 with cerebrospinal fluid hypocretin-1 deficiency (< 110 pg/ml) and absence of the HLA DQB1*06:02 allele, with follow-up with at least 1 visit within the last 4 years, consecutively admitted to 2 European sleep centers (Lugano, Switzerland and Montpellier, France).

Results: Seven patients (3 of 29 patients in Lugano and 4 of 328 in Montpellier) were diagnosed with narcolepsy with hypocretin-1 deficiency and absence of HLA DQB1*06:02 (ie, 2% of patients with narcolepsy type 1).

Functional representativeness and distinctiveness of reintroduced birds and mammals in Europe.

Reintroduction, the human-mediated movement of organisms to re-establish locally extinct populations, has become a popular conservation tool. However, because reintroductions often focus on local or national conservation issues, their contribution to the conservation of biodiversity at large scale remains unclear. While taxonomic biases have already been identified in reintroduction programs at regional scales, studies have stressed the need to account for other facets of biodiversity when assessing the relevance of the allocation of conservation efforts.

Impact of calcineurin inhibitor-free immunosuppression on de novo donor-specific antibody formation in liver transplant recipients.

Background & Aims: Low calcineurin inhibitor (CNI) levels expose liver transplant recipients to rejection episodes and potentially to antibody-mediated rejection. There are little data on the impact of CNI-free immunosuppression on de novo donor-specific HLA antibody (dnDSA) development. Here we evaluated the prevalence of dnDSA in liver transplant recipients on CNI-free maintenance regimens and their associations with histopathological abnormalities of allografts.

Characterization of the novel HLA-A*24:564 allele by sequencing-based typing.

HLA-A*24:564 differs from HLA-A*24:02:01:01 by one nucleotide substitution in codon 240 in exon 4.

[Biobanking in a histocompatibility laboratory. Guidelines from the Francophone Society of Histocompatibility and Immunogenetics (SFHI)].

Histocompatibility laboratories perform the biological analyses linked related to organ transplant, hematopoietic stem cells transplant, some immune dysfunction diseases and immuno-allergy after therapeutic treatment. Most of these analyses are prospectively or retrospectively performed on sera and DNA. The Société Francophone d'Histocompatibilité et d'Immunogénétique (SFHI) has made some recommendations in order to define storage conditions and storage lifetime of the samples required in a histocompatibility laboratory.

Predictive value of HLAMatchmaker and PIRCHE-II scores for de novo donor-specific antibody formation after adult and pediatric liver transplantation.

Production of de novo DSA (dnDSA) is associated with an increased risk of antibody mediated rejection after liver transplantation. Antibodies not only recognize the entire antigen but are able to bind specific functional epitopes present on the HLA molecule surface. The HLAMatchmaker and the PIRCHE-II (predicted indirectly recognizable HLA epitopes) algorithms are able to determine predictive epitope mismatches scores and de novo DSA (dnDSA) synthesis based on alloreactive eplets' identification.

Exploring predicted indirectly recognizable HLA epitopes (PIRCHE-II) in liver transplant recipients on calcineurin inhibitor-free maintenance immunosuppression. A retrospective single center study.

The PIRCHE (Predicted Indirectly ReCognizable HLA Epitopes) score is an HLA epitope matching algorithm. PIRCHE algorithm estimates the level of presence of T-cell epitopes in mismatched HLA. The PIRCHE-II numbers associate with de novo donor-specific antibody (dnDSA) formation following liver transplantation and kidney allograft survival following renal transplantation.

Setting up home noninvasive ventilation.

Home noninvasive ventilation (NIV) is widely used to correct nocturnal alveolar hypoventilation in patients with chronic respiratory failure of various etiologies. The most commonly used ventilation mode is pressure support with a backup respiratory rate. This mode requires six main settings, as well as some additional settings that should be adjusted according to the individual patient.

Impact of leaks and ventilation parameters on the efficacy of humidifiers during home ventilation for tracheostomized patients: a bench study.

Background: During invasive ventilation, the upper airway is bypassed and no longer participates in humidification of inspired gases, which is essential to avoid harmful consequences such as endotracheal tube occlusion. In the case of increased air flow, especially in the presence of leaks (intentional or unintentional), the humidification provided by humidifiers may become ineffective. The objective of this bench study was to evaluate the quality of humidification provided by heated humidifiers under various home ventilation conditions.

Reintroductions of birds and mammals involve evolutionarily distinct species at the regional scale.

Reintroductions offer a powerful tool for reversing the effects of species extirpation and have been increasingly used over recent decades. However, this species-centered conservation approach has been criticized for its strong biases toward charismatic birds and mammals. Here, we investigated whether reintroduced species can be representative of the phylogenetic diversity within these two groups at a continental scale (i.

An in silico analysis of oxygen uptake of a mild COPD patient during rest and exercise using a portable oxygen concentrator.

Oxygen treatment based on intermittent-flow devices with pulse delivery modes available from portable oxygen concentrators (POCs) depends on the characteristics of the delivered pulse such as volume, pulse width (the time of the pulse to be delivered), and pulse delay (the time for the pulse to be initiated from the start of inhalation) as well as a patient's breathing characteristics, disease state, and respiratory morphology. This article presents a physiological-based analysis of the performance, in terms of blood oxygenation, of a commercial POC at different settings using an in silico model of a COPD patient at rest and during exercise. The analysis encompasses experimental measurements of pulse volume, width, and time delay of the POC at three different settings and two breathing rates related to rest and exercise.

Misleading de novo detection of serum anti-HLA-A3 antibodies in kidney recipients having received ATG before transplantation.

Anti-HLA antibody (Ab) monitoring is essential for the follow-up of transplant patients. However, it can be affected by drugs, especially Ab infused as a conditioning regimen for transplantation. ATG Fresenius, commonly used in this setting, is a polyclonal rabbit Ab raised against the Jurkat human T cell line (HLA-A3, 32; B7, 35).

Hyperacute rejection after lung transplantation caused by undetected low-titer anti-HLA antibodies.

Hyperacute rejection is an early complication of transplantation, caused by the presence in the recipient of pre-formed donor-directed antibodies (Ab). We report a case of fatal early graft dysfunction after lung transplantation in a female recipient with no anti-HLA Ab detected before transplantation. Further immunologic studies revealed the presence, in the pre-transplant serum, of low-titer anti-HLA Ab directed against the donor's HLA, detectable only by flow-cytometry screening for panel-reactive antibodies.

Flow cytometric evaluation of pregnancy-induced anti-HLA immunization and blood transfusion-induced reactivation.

Background: Pregnancy-induced alloimmunization (PIA) may decrease to a level that becomes undetectable by complement-dependent cytotoxicity (CDC). Nevertheless, such alloimmunization may provoke acute rejections after kidney transplantation and lead to broad-spectrum immunizations after transfusion. Flow-cytometry (FC) was used to estimate the frequency of low-level PIA and to evaluate its influence on posttransfusion alloimmunization profiles.

Flow-PRA evaluation for antibody screening in patients awaiting kidney transplantation.

Flow-PRA is a flow cytometric method for both anti-HLA class I and class II antibody (Ab) detection. We evaluated this technique for Ab screening in patients awaiting kidney transplantation. After having established a rigorous threshold for positivity, a three-dilution difference in sensitivity between Flow-PRA and complement-dependent cytotoxicity (CDC) persisted.

Early function of Pax5 (BSAP) before the pre-B cell receptor stage of B lymphopoiesis.

The formation of the pre-B cell receptor (BCR) corresponds to an important checkpoint in B cell development that selects pro-B (pre-BI) cells expressing a functionally rearranged immunoglobulin mu (Igmu) heavy chain protein to undergo the transition to the pre-B (pre-BII) cell stage. The pre-BCR contains, in addition to Igmu, the surrogate light chains lambda5 and VpreB and the signal transducing proteins Igalpha and Igbeta. The absence of one of these pre-BCR components is known to arrest B cell development at the pre-BI cell stage.