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1.
Abdollahpour H Appaswamy G Kotlarz D Diestelhorst J Beier R Schäffer AA Gertz EM Schambach A Kreipe HH Pfeifer D Engelhardt KR Rezaei N Grimbacher B Lohrmann S Sherkat R Klein C 《Blood》2012,119(15):3450-3457
We describe a novel clinical phenotype associating T- and B-cell lymphopenia, intermittent neutropenia, and atrial septal defects in 3 members of a consanguineous kindred. Their clinical histories included recurrent bacterial infections, viral infections, mucocutaneous candidiasis, cutaneous warts, and skin abscesses. Homozygosity mapping and candidate gene sequencing revealed a homozygous premature termination mutation in the gene STK4 (serine threonine kinase 4, formerly having the symbol MST1). STK4 is the human ortholog of Drosophila Hippo, the central constituent of a highly conserved pathway controlling cell growth and apoptosis. STK4-deficient lymphocytes and neutrophils exhibit enhanced loss of mitochondrial membrane potential and increased susceptibility to apoptosis. STK4 deficiency is a novel human primary immunodeficiency syndrome. 相似文献
2.
Hengameh Abdollahpour Malik Alawi Fanny Kortüm Michael Beckstette Eva Seemanova Vladimír Komárek Georg Rosenberger Kerstin Kutsche 《European journal of human genetics : EJHG》2015,23(2):256-259
The recently proposed adaptor protein 4 (AP-4) deficiency syndrome comprises a group of congenital neurological disorders characterized by severe intellectual disability (ID), delayed or absent speech, hereditary spastic paraplegia, and growth retardation. AP-4 is a heterotetrameric protein complex with important functions in vesicle trafficking. Mutations in genes affecting different subunits of AP-4, including AP4B1, AP4E1, AP4S1, and AP4M1, have been reported in patients with the AP-4 deficiency phenotype. We describe two siblings from a non-consanguineous couple who presented with severe ID, absent speech, microcephaly, growth retardation, and progressive spastic tetraplegia. Whole-exome sequencing in the two patients identified the novel homozygous 2-bp deletion c.1160_1161delCA (p.(Thr387Argfs*30)) in AP4B1. Sanger sequencing confirmed the mutation in the siblings and revealed it in the heterozygous state in both parents. The AP4B1-associated phenotype has previously been assigned to spastic paraplegia-47. Identification of a novel AP4B1 alteration in two patients with clinical manifestations highly similar to other individuals with mutations affecting one of the four AP-4 subunits further supports the observation that loss of AP-4 assembly or functionality underlies the common clinical features in these patients and underscores the existence of the clinically recognizable AP-4 deficiency syndrome. 相似文献
3.
Zeiger RS Mauger D Bacharier LB Guilbert TW Martinez FD Lemanske RF Strunk RC Covar R Szefler SJ Boehmer S Jackson DJ Sorkness CA Gern JE Kelly HW Friedman NJ Mellon MH Schatz M Morgan WJ Chinchilli VM Raissy HH Bade E Malka-Rais J Beigelman A Taussig LM;CARE Network of the National Heart Lung Blood Institute 《The New England journal of medicine》2011,365(21):1990-2001
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In this study, the researchers aimed to design, plan and implement a Science, Technology, Engineering and Math (STEM) model to support Pre-K children’s skills and knowledge in STEM as well as to improve Pre-K teachers’ attitudes and professional skills to plan and integrate STEM concepts in their daily classroom activities. Four classrooms from a Head Start programme in an Eastern North Carolina County participated in the study. A quasi-experimental, pre–post-intervention design was adopted to implement the steps of the project. Data were collected through multiple, convergent methods in which the research team utilized both quantitative and qualitative measures to document the participants’ progress and gains. The research outcomes proved that children attending preschool can attain higher levels of understanding in STEM when they are specifically supported through well-planned, stimulating and developmentally appropriate activities. 相似文献
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Gharagozlou M Abdollahpour H Moinfar Z Bemanian MH Sedaghat M 《Iranian journal of allergy, asthma, and immunology》2008,7(2):85-90
Asthma is one of the most common acute and chronic conditions in children, and the pediatricians are expected to provide an important role for asthma care in this age group, however there is no published information describing the different aspects of their practices about children asthma in Iran. This study was done to characterize the knowledge of the Iranian pediatricians about the diagnosis, treatment and education of asthma in children. Validated questionnaires were completed by 193 pediatricians from different parts of Iran during the International Congress of Pediatrics in Tehran. A total of 193 returned questionnaires (96.5%) were eligible for the survey and analysis. About 49% of the respondents were male and 18% were sub-specialists. Wheezing was the most common mentioned symptoms in taking asthma into consideration. About 40% of these physicians had no plan for doing spirometry in eligible children and 35.2% of them did not have familiarity with peak flowmeter. Also about 17.6% of them paid no regular visits to their asthmatic patients. Only 29% of the respondents indicated that they would prescribe inhaled corticosteroids for a 6-year-old child with moderate persistent asthma and 73.3% of them would prescribe inhaled bronchodilator (Salbutamol) for an acute asthmatic attack as the first drug, while 17.1% of them used epinephrine injection for this purpose. About 42.2% of the respondents did not consider any education or action plan for their patients and only 60.6% of them had access to standard guidelines and educational programs. The results show that there are numerous aspects of children asthma management in Iran which are not consistent with standardized guidelines and recommendations. This survey and the attained information suggest areas for interventions to improve the pediatricians' knowledge about asthma and the disease management. 相似文献
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Mehdi Tabrizizadeh Mahnaz Kazemipoor Mahdi Hakimian Mojdeh Maleksabet Maryam Kazemipoor Hengameh Zandi Fatemeh Pourrajab Chun‐tao Che Geoffrey A. Cordell 《Phytotherapy research : PTR》2018,32(4):672-677
The aim of this study was to determine the antimicrobial capacity, minimum inhibitory concentration (MIC), and cytotoxic effects of a Peganum harmala seed extract in comparison to 5.25% sodium hypochlorite (NaOCl). The oral pathogen Enterococcus faecalis was used to evaluate the antimicrobial capacity, and the MIC values were determined through serial dilution. Inhibition zones were measured in millimeter, and the data were analyzed statistically by analysis of variance and the Tukey HSD test. For cytotoxicity testing, P. harmala seed extract and 5.25% NaOCl solution were incubated with L929 fibroblast cells. After 1, 24, and 72 hr of incubation, cells were stained and the optical density determined with an enzyme‐linked immunosorbent assay (ELISA) reader. Data were analyzed with Chi‐Square statistical test. The significance level was set at p < .05. There was no significant difference between the antimicrobial capacity of 5.25% NaOCl and the P. harmala extract (p > .05; MIC 4 μg/ml). The Microculture Tetrazolium (MTT) assay test showed that the cytotoxic effects of the P. harmala extract were significantly lower than 5.25% NaOCl (p < .05). The results show that 5.25% NaOCl and P. harmala seed extract have similar antimicrobial activity against Enterococcus faecalis; but P. harmala, which shows reduced cytotoxicity, should be considered for further investigation as a safe, phytotherapeutic, intracanal irrigant. 相似文献
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Background: Chronic Obstructive Pulmonary Disease (COPD) is the third leading cause of death in the United States and costs approximately $50 billion in annual healthcare costs. Certain interventions such as COPD inpatient education programs have demonstrated effectiveness in reducing healthcare utilization and reducing healthcare associated costs.Purpose: To assess the effectiveness of chronic obstructive pulmonary disease (COPD) inpatient education using existing respiratory therapy staff in an academic health system.Methodology/Approach: This retrospective observational study employed a matched case-control design. Inpatients admitted with a COPD related condition in this study received self-management interventions from Registered Respiratory Therapists (RTs). The sample includes retrospective administrative and medical record data on 84 inpatients with a diagnosis of COPD admitted in 2016 through 2017. Patients received self-management interventions at the bedside by trained RTs while admitted to acute care areas, progressive care units and intermediate care units. Effectiveness of inpatient education was compared before and after the interventions. Hospitalization costs and length of stay (LOS) are the primary outcome measures.Results: Statistical analyses revealed that inpatient COPD education appears to reduce hospital length of stay and associated costs. Post hoc regression analyses revealed that age, gender, marital status, and number of visits were significantly associated with LOS; whereas, smoking, LOS, and number of visits were significantly associated with hospitalization costs.Practice Implications: COPD patient education may be an effective strategy at reducing hospital costs and healthcare utilization overall. Empowering patients to take responsibility for their own health outcomes by improving self-efficacy has proven to demonstrate value. 相似文献
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Dr. Hengameh Hosseini Ph.D 《Hospital topics》2020,98(2):51-58
AbstractThe US healthcare systems is struggling to keep pace with increasing demand, as the burden faced by providers and healthcare organizations expands. While care delivery models continue to evolve in the post-reform era, many barriers stemming from capacity constraints, regulation, shortages of manpower and, misallocation of resources persist. In this paper, we provide an analysis of unmet demand in the US system healthcare system. We contribute a deep dive of the literature to elucidate the reasons for which imbalanced and unmet demand, including the heavy use of the emergency department for non-emergent conditions, continues to burden healthcare organizations. We use these findings to motivate recommendations about how to address critical shortcomings in order to better address the needs of patients with both emergent and non-emergent conditions. 相似文献