Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing.

Maturation of αβ lineage T cells in the thymus relies on the formation and cell surface expression of a pre-T cell receptor (TCR) complex, composed of TCRβ chain and pre-TCRα (pTCRα) chain heterodimers, giving rise to a diverse T cell repertoire. Genetic aberrations in key molecules involved in T cell development lead to profound T cell immunodeficiency. Definitive genetic diagnosis guides treatment choices and counseling.

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/likely pathogenic (P/LP) variants and 58 of 327 (17.

Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs.

Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)-Cas nucleases and human induced pluripotent stem cell (iPSC) technology can reveal deep insight into the genetic and molecular bases of human biology and disease. Undesired editing outcomes, both on-target (at the edited locus) and off-target (at other genomic loci) hinder the application of CRISPR-Cas nucleases. We developed Off-flow, a Nextflow-coded bioinformatic workflow that takes a specific guide sequence and Cas protein input to call four separate off-target prediction programs (CHOPCHOP, Cas-Offinder, CRISPRitz, CRISPR-Offinder) to output a comprehensive list of predicted off-target sites.

Antigen presentation in vertebrates: Structural and functional aspects.

Antigen presentation is a key process of the immune system and is responsible for the activation of T cells. The main characters are the major histocompatibility complex class I (MHC-I) and class II (MHC-II) molecules, and accessory proteins that act as chaperones for these glycoproteins. Current knowledge of this process and also the elucidation of the structural features of these proteins, has been extensively reviewed in humans.

Generalist nematodes dominate the nemabiome of roe deer in sympatry with sheep at a regional level.

The growth of livestock farming and the recent expansion of wild ungulate populations in Europe favor opportunities for direct and/or indirect cross-transmission of pathogens. Comparatively few studies have investigated the epidemiology of gastro-intestinal nematode parasites, an ubiquitous and important community of parasites of ungulates, at the wildlife/livestock interface. In this study, we aimed to assess the influence of livestock proximity on the gastrointestinal nematode community of roe deer in a rural landscape located in southern France.

Metabarcoding in two isolated populations of wild roe deer (Capreolus capreolus) reveals variation in gastrointestinal nematode community composition between regions and among age classes.

Background: Gastrointestinal nematodes are ubiquitous for both domestic and wild ungulates and have varying consequences for health and fitness. They exist as complex communities of multiple co-infecting species, and we have a limited understanding of how these communities vary in different hosts, regions and circumstances or of how this affects their impacts.

Methods: We have undertaken ITS2 rDNA nemabiome metabarcoding with next-generation sequencing on populations of nematode larvae isolated from 149 fecal samples of roe deer of different sex and age classes in the two isolated populations of Chizé and Trois Fontaines in France not co-grazing with any domestic ungulate species.

A database for ITS2 sequences from nematodes.

Background: Marker gene surveys have a wide variety of applications in species identification, population genetics, and molecular epidemiology. As these methods expand to new types of organisms and additional markers beyond 16S and 18S rRNA genes, comprehensive databases are a critical requirement for proper analysis of these data.

Results: Here we present an ITS2 rDNA database for marker gene surveys of both free-living and parasitic nematode populations and the software used to build the database.

Lessons learned from applying adaptation pathways in flood risk management and challenges for the further development of this approach.

Worldwide, an increase in flood damage is observed. Governments are looking for effective ways to protect lives, buildings, and infrastructure. At the same time, a large investment gap seems to exist-a big difference between what should necessarily be done to curb the increase in damage and what is actually being done.

Predictors of acute postoperative pain after elective surgery.

Objectives: Objectives:Despite efforts to improve acute postoperative pain management, a substantial number of patients still experience moderate to severe pain during the immediate postoperative days. The purpose of the present study was to identify predictors of moderate to severe acute postoperative pain.

Methods: Methods: A total of 1490 patients undergoing heterogeneous surgical procedures recorded their pain 3 times a day on a 100-mm visual analog scale from the day before the operation until 5 days postoperation.

Quality of life and non-pain symptoms in patients with cancer.

To measure the prevalence of non-pain physical symptoms and psychological symptoms in patients with cancer, to investigate the impact of physical and psychological symptoms on their quality of life (QoL), and to inquire whether treatment had been received for the complaints/symptoms, a representative sample of 1,429 cancer patients were recruited and classified according to tumor type and treatment status [i.e., (1a) curative treatment >6 months ago, (1b) curative treatment View Article and Find Full Text PDF

Predictive factors of postoperative pain after day-case surgery.

Objectives: Despite the growing number of ambulatory operations knowledge of predictive factors of postoperative pain after ambulatory surgery is limited. Therefore, the aim of this study was to identify predictive factors of postoperative pain after ambulatory surgery.

Methods: In this cross-sectional study, 648 patients were included.

Concerns of former breast cancer patients about disease recurrence: a validation and prevalence study.

Objective: The present study has three aims: first, to evaluate the psychometric properties of the Dutch version of the CARS (CARS-DLV). Second, to measure the prevalence of concerns about disease recurrence in former breast cancer patients and identify potential predictors and third, to establish how fear of recurrence was effecting quality of life.

Methods: A prospective study was carried out on breast cancer patients (n=136) who had undergone curative treatment.

The prevalence of postoperative pain in a sample of 1490 surgical inpatients.

Background And Objective: To measure the prevalence of postoperative pain, an assessment was made of 1490 surgical inpatients who were receiving postoperative pain treatment according to an acute pain protocol.

Methods: Measurements of pain (scores from 0 to 100 on a visual analogue scale) were obtained three times a day on the day before surgery and on days 0-4 postoperatively; mean pain intensity scores were calculated. Patients were classified as having no pain (score 0-5), mild pain (score 6-40), moderate pain (score 41-74) or severe pain (score 75-100).

High prevalence of pain in patients with cancer in a large population-based study in The Netherlands.

Unlabelled: At present, no definite conclusions can be drawn about the real extent of the pain suffered by cancer patients. A population-based study was conducted to obtain reliable information about the prevalence and severity of pain in cancer patients (all phases) and about predictors of pain. A representative sample of cancer patients was recruited in the area from a cancer registry.

The prevalence of postoperative pain in a cross-sectional group of patients after day-case surgery in a university hospital.

Objectives: Although a great variety of surgical procedures are performed on an ambulatory basis, little is known about postoperative pain experience at home after ambulatory surgery. This study was performed to assess the prevalence and course of postoperative pain in the early postoperative period after ambulatory surgery.

Methods: Over a period of 4 months, 648 patients who underwent day-case surgery were included in our study.

Somatic and psychologic predictors of long-term unfavorable outcome after surgical intervention.

Objective: To identify somatic and psychologic predictors of pain, functional limitations, global perceived recovery, and quality of life 6 months after surgical intervention.

Summary Background Data: Recent studies have indicated that chronic pain after surgical intervention is more common than previously assumed. Several demographic and somatic predictors of long-term unfavorable outcome have been identified, but little is known about the contribution of psychologic risk factors.

Prevalence of pain in patients with cancer: a systematic review of the past 40 years.

Background: Despite the abundant literature on this topic, accurate prevalence estimates of pain in cancer patients are not available. We investigated the prevalence of pain in cancer patients according to the different disease stages and types of cancer.

Patients And Methods: A systematic review of the literature was conducted.

Influence of age, comorbidity and performance status on the choice of treatment for patients with non-small cell lung cancer; results of a population-based study.

Background: In the Netherlands in 1997, 43% of patients with newly diagnosed lung cancer were over 70. Large age-specific differences in treatment exist. We examined whether age, comorbidity, performance status and pulmonary function influenced treatment.

Age-specific differences in treatment and survival of patients with cervical cancer in the southeast of The Netherlands, 1986-1996.

Age at diagnosis has been proven to be an important determinant of the choice of initial treatment for several sites of cancer. Elderly patients are more likely to receive no treatment or less intensive treatment modalities. This study analysed the influence of age on treatment choice and survival in patients diagnosed with cervical cancer.

Rising incidence of breast cancer after completion of the first prevalent round of the breast cancer screening programme.

Objectives: After completion of the prevalent screening round of the breast cancer screening programme in Limburg, The Netherlands, incidences started rising once again. This increase was contrary to expectations, which had predicted a slightly higher, but stable, incidence after the first screening round. The trends in incidence were studied to find explanations for the observed rise in incidence.

Cancer in the very elderly Dutch population.

Background: Cancer incidence and mortality rates rarely are studied in people age > 85 years. Usually, patients ages 65 years, 75 years, and 85 years of age are combined into 1 group because of small numbers. The number of people age > or = 85 years in the Netherlands increased from 99,000 in 1976 to 203,000 in 1995 (an increase of 105%).

A blind review and an informed review of interval breast cancer cases in the Limburg screening programme, the Netherlands.

Objective: To investigate the proportion of interval breast cancers that could have been detected at the previous screening examination, and to gain more insight into the characteristics of these tumours.

Setting: Breast cancer screening programme in mid- and southern Limburg, the Netherlands.

Method: Firstly, previous screening mammograms of 92 interval cancer cases were blindly reread by the radiologists from two different units as part of their daily screening workload.

Evaluation of the effect of breast cancer screening by record linkage with the cancer registry, The Netherlands.

Objective: To evaluate the effect of a breast cancer screening programme by record linkage with the cancer registry.

Setting: Breast cancer screening programme in mid- and southern Limburg, the Netherlands.

Methods: The data files of the breast cancer screening programme and the Maastricht Cancer Registry were linked in order to evaluate the effect of breast cancer screening.