Differences in presenting features and clinical outcomes by smoking status were examined using Student t tests and Fisher exact tests, and summary statistics are presented as mean ± SD and ...percentages. Because no significant differences among clinical outcomes stratified by current versus former smoking existed, the groups were combined. Of note, therapeutic interventions for non-FMD indications were excluded from analysis, and the arteries on which therapeutic interventions were performed were consistent with the arterial beds with FMD involvement. ...atherosclerosis is not the driver of therapeutic interventions in smokers with FMD.
Smoking and Adverse Outcomes in Fibromuscular Dysplasia O’Connor, Sarah, MD; Gornik, Heather L., MD, MHS; Froehlich, James B., MD, MPH ...
Journal of the American College of Cardiology,
04/2016, Letnik:
67, Številka:
14
Journal Article
Specifics of this registry are described in detail elsewhere (1). Since the publication of the first registry report (1), one additional clinical center has been added and an additional 168 patients ...have been enrolled as of September 11, 2012. ...there are important sex-related differences in the family history, presentation, and arterial involvement of FMD.
Abstract Background Alternative treatment of dehydration is needed when intravenous (IV) or oral rehydration therapy fails. Subcutaneous (SC) hydration facilitated by recombinant human hyaluronidase ...offers an alternative treatment for dehydration. This clinical trial is the first to compare recombinant human hyaluronidase-facilitated SC (rHFSC) rehydration with standard IV rehydration for use in dehydrated children. Objective This Phase IV noninferiority trial evaluated whether rHFSC fluid administration can be given safely and effectively, with volumes similar to those delivered intravenously, to children who have mild to moderate dehydration. Methods The study included mild to moderately dehydrated children (Gorelick dehydration score) aged 1 month to 10 years. They were randomized to receive 20 mL/kg of isotonic fluids using rHFSC or IV therapy over 1 hour and then as needed until clinically rehydrated. The primary outcome was total volume of fluid administered (emergency department ED plus inpatient hospitalization). Secondary outcomes included mean volume infused in the ED alone, postinfusion dehydration scores and weight changes, line placement success and time, safety, and provider and parent/guardian questionnaire. Results 148 patients (mean age, 2.3 1.91 years; white, 53.4%; black, 31.8%) were enrolled in the intention-to-treat population (73 rHFSC; 75 IV). The primary outcome, mean total volume infused, was 365.0 (324.6) mL in the rHFSC group over 3.1 hours versus 455.8 (597.4) mL in the IV group over 6.6 hours ( P = 0.51). The secondary outcome of mean volume infused in the ED alone was 334.3 (226.40) mL in the rHFSC group versus 299.6 (252.33) mL in the IV group ( P = 0.03). Dehydration scores and weight changes postinfusion were similar. Successful line placement occurred in all 73 rHFSC-treated patients and 59 of 75 (78.7%) IV-treated patients ( P < 0.0001). All IV failures occurred in patients aged <3 years; rHFSC rescue was successful in all patients in whom it was attempted. Both treatments were well tolerated. Clinicians rated fluid administration as easy to perform in 94.5% (69 of 73) of the rHFSC group versus 65.3% (49 of 75) of the IV group ( P < 0.001). Parents/caregivers were satisfied or very satisfied with fluid administration in 94.5% (69 of 73) of rHFSC-treated patients and 73.3% (55 of 75) of IV-treated patients. Conclusions In mild to moderately dehydrated children, rHFSC was inferior to IV hydration for the primary outcome measure. However, rHFSC was noninferior in the ED phase of hydration. Additional benefits of rHFSC included time and success of line placement, ease of use, and satisfaction. SC hydration facilitated with recombinant human hyaluronidase represents a reasonable addition to the treatment options for children who have mild to moderate dehydration, especially those with difficult IV access. ClinicalTrials.gov identifier: NCT00773175.
Haploinsufficiency of the hematopoietic transcription factor GATA2 underlies monocytopenia and mycobacterial infections; dendritic cell, monocyte, B, and natural killer (NK) lymphoid deficiency; ...familial myelodysplastic syndromes (MDS)/acute myeloid leukemia (AML); and Emberger syndrome (primary lymphedema with MDS). A comprehensive examination of the clinical features of GATA2 deficiency is currently lacking. We reviewed the medical records of 57 patients with GATA2 deficiency evaluated at the National Institutes of Health from January 1, 1992, to March 1, 2013, and categorized mutations as missense, null, or regulatory to identify genotype-phenotype associations. We identified a broad spectrum of disease: hematologic (MDS 84%, AML 14%, chronic myelomonocytic leukemia 8%), infectious (severe viral 70%, disseminated mycobacterial 53%, and invasive fungal infections 16%), pulmonary (diffusion 79% and ventilatory defects 63%, pulmonary alveolar proteinosis 18%, pulmonary arterial hypertension 9%), dermatologic (warts 53%, panniculitis 30%), neoplastic (human papillomavirus+ tumors 35%, Epstein-Barr virus+ tumors 4%), vascular/lymphatic (venous thrombosis 25%, lymphedema 11%), sensorineural hearing loss 76%, miscarriage 33%, and hypothyroidism 14%. Viral infections and lymphedema were more common in individuals with null mutations (P = .038 and P = .006, respectively). Monocytopenia, B, NK, and CD4 lymphocytopenia correlated with the presence of disease (P < .001). GATA2 deficiency unites susceptibility to MDS/AML, immunodeficiency, pulmonary disease, and vascular/lymphatic dysfunction. Early genetic diagnosis is critical to direct clinical management, preventive care, and family screening.
•GATA2 deficiency has a broad phenotype encompassing immunodeficiency, MDS/AML, pulmonary disease, and vascular/lymphatic dysfunction.•Early genetic diagnosis is critical to direct clinical management, prophylaxis, transplantation, and family screening.
To determine whether the 2009 U.S. Preventive Services Task Force (USPSTF) guidelines for breast cancer mammography screening were followed by changes in screening utilization in the state of ...Vermont.
This retrospective study was HIPAA compliant and approved by the institutional review board, with waiver of informed consent. Trends in screening mammography utilization during 1997-2011 were examined among approximately 150,000 women aged 40 years and older in the state of Vermont using statewide mammography registry data.
The percentage of Vermont women aged 40 years and older screened in the past year declined from 45.3% in 2009% to 41.6% in 2011 (an absolute decrease of -3.7 percentage points; 95% confidence interval CI: -3.3, -4.1). The largest decline in utilization was among women aged 40-49 years (-4.8 percentage points; 95% CI: -4.1, -5.4), although substantial declines were also observed among women aged 50-74 years (-3.0 percentage points; 95% CI: -2.6, -3.5) and women aged 75 years and older (-3.1 percentage points; 95% CI: -2.3, -4.0). The percentage of women aged 50-74 years screened within the past 2 years declined by -3.4 percentage points (95% CI: -3.0, -3.9) from 65.4% in 2009 to 61.9% in 2011.
After years of increasing screening mammography utilization in Vermont, there was a decline in screening, which coincided with the release of the 2009 USPSTF recommendations. The age-specific patterns in utilization were generally consistent with the USPSTF recommendations, although there was also evidence that the percentage of women aged 50-74 years screened in the past 2 years declined since 2009.
The prevalence of intracranial aneurysm in patients with fibromuscular dysplasia (FMD) is uncertain.
To examine the prevalence of intracranial aneurysm in women diagnosed with FMD.
This ...cross-sectional study included 669 women with intracranial imaging registered in the US Registry for Fibromuscular Dysplasia, an observational disease-based registry of patients with FMD confirmed by vascular imaging and currently enrolling at 14 participating US academic centers. Registry enrollment began in 2008, and data were abstracted in September 2015. Patients younger than 18 years at the time of FMD diagnosis were excluded. Imaging reports of all patients with reported internal carotid, vertebral, or suspected intracranial artery aneurysms were reviewed. Only saccular or broad-based aneurysms 2 mm or larger in greatest dimension were included. Extradural aneurysms in the internal carotid artery were included; fusiform aneurysms, infundibulae, and vascular segments with uncertainty were excluded.
Percentage of women with FMD with intracranial imaging who had an intracranial aneurysm.
Of 1112 female patients in the registry, 669 (60.2%) had undergone intracranial imaging at the time of enrollment (mean SD age at enrollment, 55.6 10.9 years). Of the 669 patients included in the analysis, 86 (12.9%; 95% CI, 10.3%-15.9%) had at least 1 intracranial aneurysm. Of these 86 patients, 25 (53.8%) had more than 1 intracranial aneurysm. Intracranial aneurysms 5 mm or larger occurred in 32 of 74 patients (43.2%), and 24 of 128 intracranial aneurysms (18.8%) were in the posterior communicating or posterior arteries. The presence of intracranial aneurysm did not vary with location of extracranial FMD involvement. A history of smoking was significantly associated with intracranial aneurysm: 42 of 78 patients with intracranial aneurysm (53.8%) had a smoking history vs 163 of 564 patients without intracranial aneurysm (28.9%; P < .001).
The prevalence of intracranial aneurysm in women diagnosed with FMD is significantly higher than reported in the general population. Although the clinical benefit of screening for intracranial aneurysm in patients with FMD has yet to be proven, these data lend support to the recommendation that all patients with FMD undergo intracranial imaging if not already performed.
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