Background Mutations in DOCK8 cause a combined immunodeficiency (CID) also classified as autosomal-recessive hyper-IgE syndrome (HIES). Recognizing patients with CID / HIES is of clinical importance due to a difference in prognosis and management. Objectives Define the clinical features that distinguish DOCK8 deficiency from other forms of HIES and CIDs; study the mutational spectrum of DOCK8 deficiency; and report on the frequency of specific clinical findings. Methods Eighty-two patients from 60 families with CID and the phenotype of autosomal-recessive HIES with (64 patients) and without (18 patients) DOCK8 mutations were studied. Support vector machines were used to compare clinical data from 35 patients with DOCK8 deficiency with 10 AR-HIES patients without a DOCK8 mutation and 64 patients with STAT3 mutations. Results DOCK8-deficient patients had a median IgE of 5,201 IU, high eosinophil levels of usually at least 800/µl (92% of patients), and low levels of IgM (62%). About 20% of patients were lymphopenic, mainly due to low CD4+ and CD8+ T cells. Fewer than half of the patients tested produced normal specific antibody responses to recall antigens. Bacterial (84%), viral (78%), and fungal (70%) infections were frequently observed. Skin abscesses (60%) and allergies (73%) were common clinical problems. In contrast to STAT3 deficiency, there were few pneumatoceles, bone fractures, and teething problems. Mortality was high (34%). A combination of five clinical features was helpful in distinguishing patients with DOCK8 mutations from those with STAT3 mutations. Conclusions DOCK8 deficiency is likely in patients with severe viral infections, allergies, and/or low IgM levels, who have a diagnosis of HIES plus hypereosinophilia and upper respiratory tract infections in the absence of parenchymal lung abnormalities, retained primary teeth, and minimal trauma fractures.
Summary• The consequences of increasing atmospheric carbon dioxide for long-term adaptation of forest ecosystems remain uncertain, with virtually no studies undertaken at the genetic level. A global analysis using cDNA microarrays was conducted following 6 yr exposure of Populus × euramericana (clone I-214) to elevated [CO 2 ] in a FACE (free-air CO 2 enrichment) experiment.• Gene expression was sensitive to elevated [CO 2 ] but the response depended on the developmental age of the leaves, and < 50 transcripts differed significantly between different CO 2 environments. For young leaves most differentially expressed genes were upregulated in elevated [CO 2 ], while in semimature leaves most were downregulated in elevated [CO 2 ].• For transcripts related only to the small subunit of Rubisco, upregulation in LPI 3 and downregulation in LPI 6 leaves in elevated CO 2 was confirmed by ANOVA . Similar patterns of gene expression for young leaves were also confirmed independently across year 3 and year 6 microarray data, and using real-time RT-PCR.• This study provides the first clues to the long-term genetic expression changes that may occur during long-term plant response to elevated CO 2 .
Thematic motives for eudaimonic growth were more closely tied to well-being than were affective evaluations of either changes from bad to good (redemption) or one's becoming better (self-improvement).
We developed a chronic obstructive pulmonary disease (COPD) patient-reported experience measure (PREM-C9). 174 patients with COPD (86 [49%] with a confirmed diagnosis and 88 [51%] with a self-reported diagnosis of COPD) completed a 38-item list, COPD Assessment Test (CAT) and Hospital Anxiety and Depression Scale (HADS). Hierarchical and Rasch analysis produced a 9-item list (PREM-C9). It demonstrated fit to the Rasch model (χ² p=0.33) and correlated moderately with CAT (r=0.42), HAD-anxiety (r=0.30) and HAD-depression (r=0.41) (p<0.05). A substudy confirmed its ability to detect change prepulmonary and postpulmonary rehabilitation. The PREM-C9 is a simple, valid measure of experience of patients living with COPD, validated in this study population with mild to very severe disease; it may be a useful measure in research and clinical audits.
SUMMARY To confirm reports of increased absenteeism after worksite hypertension screening, we performed a three-stage blood pressure screening among 5888 self-selected heterogeneous workers at 11 electronics plants using standardized screening and labeling procedures. A total of 296 subjects with mean systolic blood pressure of 140 mm Hg or greater or diastolic blood pressure of 90 mm Hg or greater on all three occasions were considered to have sustained hypertension. From the untreated normotensive subjects matched for eight sociodemographic and occupational variables, we prospectively selected one to three controls for each sustained hypertensive subject. Uncorrected absenteeism rates for sustained hypertensive subjects increased 22% from baseline in the postscreening year. Correction by logarithmic transformation for skewed distributions and by rates for matched controls for temporal trends reduced these changes to statistical insignificance with high statistical power. Several subgroups exhibited trends to increased absenteeism. At 12-month follow-up, the blood pressure of the sustained hypertensive subjects showed mean decreases of 12.6/6.7 mm Hg (p<0.0001) after the majority had received pharmacological antihypertensive treatment. These results suggest that worksite hypertension screening and labeling produce insignificant absenteeism change overall among self-selected heterogeneous work force populations. (Hypertension 10: 425-436, 1987) KEY WORDS • absenteeism • hypertension screening • labeling H YPERTENSION is the most common principal diagnosis cited by U.S. physicians during office visits, accounting for nearly 24 million visits annually, or 5% of the total.1 Despite substantial improvement in the proportion of Americans newly diagnosed as hypertensive and brought to treatment, major problems remain. By recently revised criteria, about 46% of hypertensive Americans are still undiagnosed, especially younger adults with mild disease. In nearly 21% hypertension is diagnosed but untreated, and in 22% it is treated but still uncon-
No abstract
he Intermittent Exotropia Questionnaire (IXTQ) is a patientderived, intermittent exotropia-specific instrument designed to evaluate health-related quality of life (HRQOL) in children with intermittent exotropia and their parents. 1,2 The IXTQ consists of 3 parts: the 12-item child IXTQ (completed by the child to assess the child's HRQOL), the 12-item proxy IXTQ (completed by the parent to assess the child's HRQOL), and the 17-item parent IXTQ (completed by the parent regarding his or her own HRQOL). 1 The child and proxy questionnaires each have a single subscale. The parent questionnaire contains 3 subscales: psychosocial, function, and surgery. The IXTQ is reliable and valid for assessing HRQOL in children with intermittent exotropia. [1][2][3] It is available for download free of charge at http://pedig.jaeb.org/.The IXTQ was originally developed using classical test theory. Rasch analysis may be used to modify and improve existing HRQOL instruments. [4][5][6][7][8][9] In the present study, Rasch analysis was used to refine the existing IXTQ, removing items that do not contribute meaningful information to the instrument and ensuring that response options are properly interpreted. Methods Patient CohortParents gave written informed consent, and children gave written assent when required. The protocol was approved by the institutional review boards of the Mayo Clinic, Jaeb Center for Health Research, and other local sites involved in the study. Data were collected and analyzed in accordance with the Health Insurance Portability and Accountability Act guidelines. The IXTQ was completed by 575 parents of 575 children aged 1 through 16 years with intermittent exotropia at the time of their child's clinic examination, enrolled from May 15, 2008, through July 24, 2013. The 295 children aged 5 years or older completed the age-appropriate child IXTQ. Parents and children completed the IXTQ as part of routine care in the strabismus practice of one of the authors (J.M.H., n = 110) or at the enrollment examination for 1 of 2 ongoing randomized clinical trials being conducted by the Pediatric Eye Disease Investigator Group (NCT 01032603 [n = 69] and NCT 01032330 [n = 396]). Child questionnaires were administered to children aged 5 through 7 years by study personnel. All 8-to 17-year-old child, proxy, and parent questionnaires were self-administered. Patient demographics are reported in eTable 1 in the Supplement. Statistical AnalysisBefore Rasch analysis, items with floor and ceiling effects on the child, proxy, and parent IXTQs were eliminated as described in the eMethods in the Supplement. Rasch analysis was performed on each of the 4 IXTQs using the analytic methods that we have applied previously (eMethods in the Supplement). 9 The performance and structure of the Rasch-IMPORTANCE The Intermittent Exotropia Questionnaire (IXTQ) is a patient, proxy, and parental report of quality of life specific to children with intermittent exotropia. We refine the IXTQ using Rasch analysis to improve reliability and validity.OBSERVATI...
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.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.