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Complex Patients (complex + patient)
Selected AbstractsDistinct clinical characteristics of Tuberous Sclerosis Complex patients with no mutation identifiedANNALS OF HUMAN GENETICS, Issue 2 2009S. E. Camposano Summary Tuberous Sclerosis Complex (TSC) is a multi-system disorder that is highly variable in its clinical presentation. Current molecular diagnostic methods permit identification of mutations in either TSC1 or TSC2 in 75,85% of TSC patients. Here we examine the clinical characteristics of those TSC patients who have no mutation identified (NMI). A retrospective review of our patient population that had comprehensive testing for mutations in TSC1/TSC2 identified 23/157 (15%) that were NMI. NMI patients had a lower incidence of brain findings on imaging studies, neurological features, and renal findings than those with TSC2 mutations. In contrast, NMI patients had a lower incidence of seizures than TSC patients with TSC1 mutations, but had a higher incidence of both renal angiomyolipomas and pulmonary lymphangioleiomyomatosis. This distinct constellation of findings suggest that NMI patients may have a unique molecular pathogenesis, different from that seen in TSC patients with the usual mutations in TSC1 and TSC2. We suggest that the mechanisms of disease in these patients include both mosaicism for a TSC2 mutation, and unusual non-coding region mutations in TSC2. [source] Rhythm Management in Pediatric Heart FailureCONGENITAL HEART DISEASE, Issue 4 2006Charles I. Berul MD ABSTRACT There are several options now available for the management of arrhythmias and ventricular dysfunction in pediatric patients with heart failure. A hybrid approach that combines the expertise of heart failure and electrophysiology specialists may be well suited for the optimal management of these complex patients. Medical and device therapies may be synergistic in decreasing the morbidity and mortality in pediatric heart failure. Pediatric electrophysiology can now potentially offer therapies that can help prevent both arrhythmic and pump failure deaths, as well as improve functional capacity and quality of life. These therapies and the available supporting data relevant to pediatrics will be the focus of this review. [source] Experienced and Less-Experienced Nurses Diagnostic Reasoning: Implications for Fostering Students' Critical ThinkingINTERNATIONAL JOURNAL OF NURSING TERMINOLOGIES AND CLASSIFICATION, Issue 2 2003Catherine G. Ferrario DNSc PURPOSE. To compare the use of mental representations (heuristics) in diagnostic reasoning of expert (,5 years' experience) and novice (<5 years' experience) emergency nurses. METHODS. Clinical simulations were completed by a nationwide randomly selected sample of 173 experienced and 46 less-experienced emergency nurses (N =229). FINDINGS. Experienced nurses used the heuristic, Judging by Causal Systems (diagnostic inferences deduced from systems of causal factors) significantly more did than less-experienced nurses. PRACTICE IMPLICATIONS. Standardized nursing diagnoses may cut short the time needed to develop representational thinking and spare cognitive reserves for reasoning needed for complex patients. Faculty need to promote students' cognitive development through strategies that promote active, reflective, and integrative learning. Search terms: Clinical experience, diagnostic reasoning [source] Mechanical Support for Postcardiotomy Cardiogenic Shock: Has Progress Been Made?JOURNAL OF CARDIAC SURGERY, Issue 4 2010Erik A. Sylvin M.D. A previous review of this topic by our group suggested that regardless of device, only 25% of patients survived to hospital discharge. In the interim, newer technologies have entered the clinical arena. Additional contributions have been made to the literature and new databases are collecting data that are likely to provide more robust guidance for the management of these very complex patients. In this review, we update the experience of mechanical support in the PCCS patient and provide a strategy to maximize survival for a patient who develops PCCS in the community cardiac surgery center. (J Card Surg 2010;25:442-454) [source] Overexpression of MLH-1 and psoriasin genes in cutaneous angiofibromas from tuberous sclerosis complex patientsJOURNAL OF CUTANEOUS PATHOLOGY, Issue 9 2006Michelangelo La Placa Background:, Tuberous sclerosis complex (TSC) is associated with mutations in two likely tumor-suppressor genes (TSC1 and TSC2) and characterized by the development of tumor-like growths (angiofibromas) in a variety of tissues and organs, particularly brain and skin. Methods:, Employing a DNA-microarray assay, able to detect mRNA production from 1176 different basic genes, we analyzed the gene-expression levels in a cutaneous hamartoma sample from a TSC patient. Altered gene expressions detected by microarray technology were further checked by quantitative reverse-transcriptase polymerase chain reaction (RT-PCR) in the same material and in cutaneous hamartoma samples obtained from five other TSC patients. Results:, The results obtained by the microarray technology in one hamartoma specimen, confirmed by the RT-PCR results obtained in the same material and in five other hamartoma specimens, demonstrated that TSC-related angiofibromas exhibit significant mRNA overexpression of two genes, represented by MLH-1 and psoriasin. Conclusions:, The overexpression of MLH-1, which codes for a DNA mismatch repair protein, and psoriasin, which codes for a specific chemoattractant factor for CD4+ T cells, implicated in the pathogenesis of inflammatory skin disease, and expressed in excess during abnormal pathways of cell growth, may shed light on the pathogenesis of the proliferative skin lesion. [source] Provider-perceived barriers and facilitators for ischaemic heart disease (IHD) guideline adherenceJOURNAL OF EVALUATION IN CLINICAL PRACTICE, Issue 2 2004Gail M. Powell-Cope PhD ARNP Abstract Rationale, aims and objectives, Clinical practice guidelines have become a standard way of implementing evidence-based practice, yet research has shown that clinicians do not always follow guidelines. Method, As part of a larger study to test the effects of an intervention on provider adherence to ischaemic heart disease (IHD) guidelines, we conducted five focus groups at three Veterans Administration Medical Centers with 32 primary care providers, cardiologists, and internists to identify key barriers and facilitators to adherence of the guidelines. Using content analysis, responses were grouped into categories. Results, The main perceived advantages of using the IHD guidelines were improvements in quality and the cost of care. Perceived barriers were the lack of ability of guidelines to manage the care of any one individual patient, the difficulty of accessing guidelines, and high workloads with many complex patients. While providers agreed on the benefits of aspirin, beta-blockers and angiotensin converting enzyme inhibitors, barriers for use of these medications were lack of consensus about contraindications, difficulty in providing follow-up during medication titration, and lack of patient adherence. Sources of influence for guideline use were: professional cardiology organizations, colleagues, mainly cardiologists, and key cardiology journals. However, most providers acknowledged that following guidelines was a personal practice decision. Conclusions, While results validated the influences of using clinical practice guidelines, our results highlight the importance of ascertaining guideline-specific barriers for building effective interventions to improve provider adherence. An advisory panel reviewed results and, using a modified nominal group process, chose implementation strategies targeting key barriers. [source] Fibromyalgia,Management of a misunderstood disorderJOURNAL OF THE AMERICAN ACADEMY OF NURSE PRACTITIONERS, Issue 7 2007Education & Training Flight Commander), Erin L. Peterson RN, FNP (Major; Family Nurse Practitioner Abstract Purpose: The purpose of this article is to review (a) what is currently known about the pathophysiology of fibromyalgia (FM), (b) how to identify patients who are susceptible to this disorder, and (c) the recommended pharmacological and nonpharmacological treatment options. Data sources: Data sources include reviews and original research from scholarly journals and Internet sites. Conclusions: There are approximately 6 million individuals in the United States diagnosed with FM, making it the third most prevalent rheumatologic disorder in this country. Failure to identify a specific causal mechanism for FM has resulted in a shift in the focus of research from etiology to treatment (Baumstark & Buckelew, 2002). Based on the literature, the most successful interventions for reduction of chronic symptoms in the FM patient is a combination of education, psychological assistance, and exercise, along with medications. It is essential that nurse practitioners (NPs) understand the issues and concerns of patients afflicted with this complex disorder. Although the organic etiology of FM syndrome remains unclear, the goals of treatment are to control pain and improve adjustment, well-being, and daily functioning of these patients to the maximum extent possible. Implications for practice: NPs are in a unique position to help identify patients who may be suffering from FM or those diagnosed with FM reporting inadequate relief of symptoms. The incomplete understanding of the biological underpinnings, as well as the multiple symptoms that characterize FM syndrome, make it a challenging disorder to diagnose and treat. It takes time and patience to care for FM patients, and there are no "quick fixes." Diagnosis is made by a combination of patient history, physical examination, laboratory evaluations, and exclusion of other causes of symptoms confused with FM. Understanding the symptomology and recommended treatments will allow NPs to give appropriate care that may include making referrals for multidisciplinary treatment of these complex patients. [source] Cyanobacterial neurotoxin BMAA in ALS and Alzheimer's diseaseACTA NEUROLOGICA SCANDINAVICA, Issue 4 2009J. Pablo Objective,,, The aim of this study was to screen for and quantify the neurotoxic amino acid ,- N -methylamino- l -alanine (BMAA) in a cohort of autopsy specimens taken from Alzheimer's disease (AD), amyotrophic lateral sclerosis (ALS), Huntington's disease (HD), and non-neurological controls. BMAA is produced by cyanobacteria found in a variety of freshwater, marine, and terrestrial habitats. The possibility of geographically broad human exposure to BMAA had been suggested by the discovery of BMAA in brain tissues of Chamorro patients with ALS/Parkinsonism dementia complex from Guam and more recently in AD patients from North America. These observations warranted an independent study of possible BMAA exposures outside of the Guam ecosystem. Methods,,, Postmortem brain specimens were taken from neuropathologically confirmed cases of 13 ALS, 12 AD, 8 HD patients, and 12 age-matched non-neurological controls. BMAA was quantified using a validated fluorescent HPLC method previously used to detect BMAA in patients from Guam. Tandem mass spectrometric (MS) analysis was carried out to confirm the identification of BMAA in neurological specimens. Results,,, We detected and quantified BMAA in neuroproteins from postmortem brain tissue of patients from the United States who died with sporadic AD and ALS but not HD. Incidental detections observed in two out of the 24 regions were analyzed from the controls. The concentrations of BMAA were below what had been reported previously in Chamarro ALS/ Parkinsonism dementia complex patients, but demonstrated a twofold range across disease and regional brain area comparisons. The presence of BMAA in these patients was confirmed by triple quadrupole liquid chromatography/mass spectrometry/mass spectrometry. Conclusions,,, The occurrence of BMAA in North American ALS and AD patients suggests the possibility of a gene/environment interaction, with BMAA triggering neurodegeneration in vulnerable individuals. [source] Overview of the 2006 Food and Drug Administration Circulatory System Devices Panel meeting on drug-eluting stent thrombosisCATHETERIZATION AND CARDIOVASCULAR INTERVENTIONS, Issue 7 2007Tina L. Pinto Slottow Abstract Drug-eluting stents (DES) seemed likely to mitigate the problem of restenosis and have become the predominant stent deployed during percutaneous coronary intervention (PCI). Sustained concerns about the rate of stent thrombosis (ST), particularly very late ST (>1 year following PCI) led to a meeting of the Circulatory System Devices Advisory Panel to address "on-label" and "off-label" use as well as appropriate duration of dual antiplatelet therapy following DES. Over 40 presentations by members of the FDA, industry personnel, and leaders in the field of interventional cardiology helped set forth the body of data available on DES. Standardized definitions of ST created by the Academic Research Consortium were applied to existing randomized trials and registries. At the end of the 2-day session, the consensus of the panel was that "on-label" DES use is not associated with increased incidence of death and myocardial infarction (MI), although it is associated with increased rates of very late ST. "Off-label" use is associated with increased risk of death or MI when compared with "on-label" use. Insufficient data exist to determine the duration of clopidogrel that would minimize ST and bleeding risk, but the panel agreed with the current ACC/AHA/SCAI guidelines regarding dual antiplatelet therapy for at least 12 months in patients at low risk for bleeding, especially with "off-label" use. More data from trials designed with better control arms and prespecified analyses of complex patients and lesions subsets over longer periods of follow-up are needed. © 2007 Wiley-Liss, Inc. [source] Getting to goal in complex patientsCLINICAL CARDIOLOGY, Issue S2 2003C. Venkata Abstract Traditionally, the term complex hypertension has been applied to patients who have clinical evidence of target organ damage. However, this definition can be expanded to include many hypertensive patients who either present without manifest disease but harbor silent concomitant organ damage, or belong to a high-risk group and are likely to develop such damage. Thus, the number of patients who deserve special consideration as complex patients is considerable. Various factors may contribute toward classifying a patient as having complex hypertension. These include severe hypertension; concomitant conditions such as diabetes, chronic renal insufficiency, coronary artery disease, or congestive heart failure; and high-risk populations such as the elderly and African Americans. Recent evidence demonstrates that aggressive goal blood pressure (BP)-lowering therapy is the key toward halting the progression of vascular disease. Although the choice of initial therapy seems less important than achieving goal B P, the drug selected must impart efficacy, organ protection, and tolerability. Combination therapy consisting of calcium-channel blockers and angiotensin-converting enzyme inhibitors seems to achieve these desirable effects. Several clinical trials have demonstrated these agents to have favorable effects on BP and organ protection even in complex hypertension, particularly when used in combination. [source] | ||||||||||