The results of our study further contribute to the assessment of risk factors for complications related to ERCP/ES. It is crucial to identify high risk patients to reduce complications of the procedures.
We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 × 10(-11)). This excess was attributable to known and novel (i.e., not present in any database or in the literature) genomic disorders. All together, 55/522 (10.5%) RHD cases harbored 34 distinct known genomic disorders, which were detected in only 0.2% of 13,839 population controls (p = 1.2 × 10(-58)). Another 32 (6.1%) RHD cases harbored large gene-disrupting CNVs that were absent from or extremely rare in the 13,839 population controls, identifying 38 potential novel or rare genomic disorders for this trait. Deletions at the HNF1B locus and the DiGeorge/velocardiofacial locus were most frequent. However, the majority of disorders were detected in a single individual. Genomic disorders were detected in 22.5% of individuals with multiple malformations and 14.5% of individuals with isolated urinary-tract defects; 14 individuals harbored two or more diagnostic or rare CNVs. Strikingly, the majority of the known CNV disorders detected in the RHD cohort have previous associations with developmental delay or neuropsychiatric diseases. Up to 16.6% of individuals with kidney malformations had a molecular diagnosis attributable to a copy-number disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances. A search for pathogenic CNVs should be considered in this population for the diagnosis of their specific genomic disorders and for the evaluation of the potential for developmental delay.
Experiences of social exclusion, including ostracism and rejection, can last anywhere from a few seconds to many years. Most research focused on short-term social exclusion, whereas virtually no empirical work has investigated the experiences of long-term social exclusion. Williams theorized that prolonged experiences of social exclusion (i.e., ostracism) would cause individuals to pass from the reflexive and reflective stages to the resignation stage characterized by the inability to recover threatened psychological needs and feelings of alienation, unworthiness, helplessness, and depression. Across two studies, we explored this prediction-and, in light of pain overlap theories, considered the possibility that chronic exclusion and chronic pain induce common psychological responses. Study 1 consisted of a quasi-experimental study involving five groups of participants: (1) those with chronic experiences of social exclusion (n ¼ 82), (2) those with chronic physical pain (n ¼ 82), (3) those with chronic hypertension (n ¼ 69), (4) those with chronic kidney disease (n ¼ 60), and (5) a group of healthy people (n ¼ 83). Participants filled out a questionnaire including measures of need threat, negative emotions, and the four key outcomes linked to the resignation stage (i.e., alienation, unworthiness, helplessness, and depression). Although our data showed little evidence to support the psychological overlap between chronic exclusion and chronic
This meta-analysis provides a clear basis for planning pharmacological studies or studies of new endoscopic techniques in patients at high risk of developing post-ERCP pancreatitis. Knowing which patients are most at risk may also make it easier to decide who should be considered unsuitable for same-day discharge.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.