ABSTRACT
Mutations in the epsilon-sarcoglycan gene (SGCE) are associated with familial myoclonus dystonia, but the full spectrum of the phenotype may not be fully defined. We screened 58 individuals with a range of myoclonic/dystonic syndromes for SGCE mutations. We found mutations (three of them novel) in six (21%) of the 29 patients with essential myoclonus and myoclonic dystonia, but did not find mutations in the 29 patients with other phenotypes.
Subject(s)
Dystonic Disorders/genetics , Mutation, Missense , Myoclonus/genetics , Point Mutation , RNA Splice Sites/genetics , Sarcoglycans/genetics , Sequence Deletion , Age of Onset , Amino Acid Substitution , Child , Child, Preschool , Cohort Studies , Dystonic Disorders/epidemiology , Exons/genetics , Female , Follow-Up Studies , Genes, Dominant , Genetic Testing , Genotype , Humans , Infant , Male , Myoclonus/epidemiology , Phenotype , Sarcoglycans/physiologyABSTRACT
To date, several diagnostic tools allow an accurate non-invasive evaluation of coronary artery disease; this is due to the great progress in echocardiographic and nuclear imaging techniques in the last 10 years. The large availability of different stress imaging techniques allows to choose the most appropriate technique for each patient according to the clinical characteristics. This paper presents the state of the art of echocardiographic and nuclear stress imaging for the diagnosis of coronary artery disease and for the prognostic stratification of infarcted patients. Advantages and limits of the different techniques are described rather than putting in competition echo and nuclear cardiology as has often been done in the past. Cardiologists should select among the various techniques on the basis of clinical characteristics of single patients, center's experience and an objective evaluation of economical aspects.
Subject(s)
Coronary Disease/diagnostic imaging , Echocardiography, Stress , Tomography, Emission-Computed, Single-Photon , Tomography, Emission-Computed , Coronary Disease/economics , Dobutamine , Echocardiography, Stress/economics , Electrocardiography , Exercise Test , Humans , Prognosis , Research , Thallium Radioisotopes , Tomography, Emission-Computed/methods , Tomography, Emission-Computed, Single-Photon/methodsABSTRACT
BACKGROUND: Aim of the study was to evaluate the prognostic and decision making value of Holter detected myocardial ischemia after acute myocardial infarction in comparison with clinically detected postinfarction angina and exercise test. METHODS: To this aim the patients consecutively admitted to our coronary care unit with acute myocardial infarction during one year were retrospectively evaluated. One hundred and eighty-nine patients (age 70+/-11 years, 137 male and 51 female) had a 24 hour Holter monitoring. One-year follow up of these patients was obtained. RESULTS: Myocardial ischemia was detected by Holter monitoring in 21 patients (11%), 4 with and 17 without angina. Symptom limited exercise test was obtained before discharge in 116 patients (62%): 45% were positive, 42% non-diagnostic and 13 negative for myocardial ischemia. Post infarction angina was present in 15 patients (9%). Patients with Holter detected myocardial ischemia were older (73+/-10 vs 66+/-11 years, p<0.05) and had higher prevalence of both angina and positive exercise test (p<0.01). One-year follow up was obtained in 186 patients. Holter detected myocardial ischemia positive predictive value for death or reinfarction was 15%, negative predictive value was 90%, similar to the absence of angina (90%) and the absence of positive exercise test (93%). Angina and exercise test identified 62% of patients with Holter detected myocardial ischemia. Residual myocardial ischemia was exclusively observed by Holter monitoring in 4% of the population, particularly in 1 patients with and 7 without exercise test. CONCLUSIONS: The additive contribution of Holter detected myocardial ischemia in the prognosis and decision making of post infarction patients is rather scanty.
Subject(s)
Electrocardiography, Ambulatory , Myocardial Infarction/physiopathology , Myocardial Ischemia/diagnosis , Myocardial Ischemia/physiopathology , Aged , Aged, 80 and over , Decision Making , Female , Humans , Male , Middle Aged , Myocardial Infarction/complications , Myocardial Ischemia/etiology , Myocardial Ischemia/therapy , Myocardial Revascularization , Predictive Value of Tests , Prognosis , RecurrenceABSTRACT
OBJECTIVE: To determine whether physical and psychiatric illness, functional status, and treatment history distinguish older primary care patients who committed suicide from those who did not. DESIGN: A case-control study using data collected by psychological autopsies of suicides and prospective patient interviews for controls. SETTING: Primary care practices in Monroe County, NY. PARTICIPANTS: Forty-two suicides aged 60 years and older who visited a primary care provider within 30 days of death and 196 patients aged 60 years and older from a group practice of general internal medicine (n = 115) or family medicine (n = 81). MEASUREMENTS: Psychiatric diagnosis; depressive symptom severity; physical health and function; psychiatric treatment history. RESULTS: Completed suicides had more depressive illness (P = .001), physical illness burden (P = .0002), and functional limitations (P = .0001) than controls and were more likely to be prescribed antidepressants (P = .004), anxiolytic agents (P = .0001), and narcotic analgesics (P = .022). Among depressed subjects, affective symptom severity (P< .0001) and emotional dysfunction (P<.0001) distinguished suicide completers. However, physical health, overall function, and treatments received did not differ between groups. CONCLUSIONS: The primary care setting is an important venue for late life suicide prevention. Primary care providers should be well prepared to diagnose and treat depression in their older patients. Additional research is needed concerning the interactions of physical health, functional status, and depressive symptoms in determining suicide risk.
