Somatosensory processing in a German family with PINK1 mutations: its potential role in Parkinson disease.

BACKGROUND: It is unclear whether sensory symptoms in Parkinson disease (PD) are of primary or of secondary origin attributable to motor symptoms such as rigidity and bradykinesia. OBJECTIVE: The aim of this study was to elucidate whether sensory abnormalities are present and may precede motor symptoms in familial parkinsonism by characterizing sensory function in symptomatic and asymptomatic PINK1 mutation carriers. METHODS: Fourteen family members with PINK1 mutation and 14 healthy controls were examined clinically, with nerve conduction studies and quantitative sensory testing (QST). RESULTS: Thresholds for mechanical detection, mechanical pain and pressure pain were higher in PINK1 mutation carriers compared to controls. Higher thresholds for mechanical detection, mechanical pain and pressure pain were even found in asymptomatic, clinically not or only mildly affected PINK1 mutation carriers. CONCLUSIONS: Data suggest that PINK1-associated PD is associated with a primary hypofunction of nociceptive and non-nociceptive afferent systems that can already be found at the time when motor signs of PD are only subtle. As nerve conduction studies did not reveal differences between PINK1 mutation carriers and controls, we propose that the somatosensory impairment is related to abnormal central somatosensory processing.

Misleading terms in Anderson-Fabry disease.

BACKGROUND: Signs and symptoms of classic Fabry disease manifest itself on the skin (angiokeratoma), the nervous system (acroparaesthesia), the heart (restrictive cardiomyopathy) and a variety of other organs. MATERIALS AND METHODS: Diagnosis of Fabry disease was confirmed by genetic tests in a cohort of 100 patients and a standardized examination programme was performed in all patients. We were puzzled when applying well-established and textbook-anchored signs and symptoms to our patients. RESULTS: Among the 47 male and 53 female patients (mean age 41 +/- 16 years) with genetically proven disease, the Fabry-type vascular skin lesions were without hyperkeratotic aspect and keratomas were virtually absent. The peripheral neuropathic pain found in all male patients was not compatible with the wording 'acro' and 'paraesthesia', suggesting a different pathophysiological mechanism. Upon echocardiographic examination, patients mainly revealed diastolic relaxation abnormalities of the heart and only one patient had a restrictive cardiac pattern. CONCLUSIONS: Our findings suggest that some terms used to describe signs and symptoms of Fabry disease are historically derived and do not comply with state-of-the-art examination. We propose to replace the term 'angiokeratoma' with 'angioma', the term 'acroparaesthesia' with 'neuropathic pain' and the term 'restrictive cardiomyopathy' with 'cardiac hypertrophic storage disease'. As most of the physicians are not familiar with Fabry disease, terms used in the past might prevent the correct diagnosis of a potentially treatable disease.

False-negative and false-positive errors in abdominal pain evaluation: failure to diagnose acute appendicitis and unnecessary surgery.

OBJECTIVES: To test the hypothesis that physician errors (failure to diagnose appendicitis at initial evaluation) correlate with adverse outcome. The authors also postulated that physician errors would correlate with delays in surgery, delays in surgery would correlate with adverse outcomes, and physician errors would occur on patients with atypical presentations. METHODS: This was a retrospective two-arm observational cohort study at 12 acute care hospitals: 1) consecutive patients who had an appendectomy for appendicitis and 2) consecutive emergency department abdominal pain patients. Outcome measures were adverse events (perforation, abscess) and physician diagnostic performance (false-positive decisions, false-negative decisions). RESULTS: The appendectomy arm of the study included 1, 026 patients with 110 (10.5%) false-positive decisions (range by hospital 4.7% to 19.5%). Of the 916 patients with appendicitis, 170 (18.6%) false-negative decisions were made (range by hospital 10.6% to 27.8%). Patients who had false-negative decisions had increased risks of perforation (r = 0.59, p = 0.058) and of abscess formation (r = 0.81, p = 0.002). For admitted patients, when the inhospital delay before surgery was >20 hours, the risk of perforation was increased [2.9 odds ratio (OR) 95% CI = 1.8 to 4.8]. The amount of delay from initial physician evaluation until surgery varied with physician diagnostic performance: 7.0 hours (95% CI = 6.7 to 7.4) if the initial physician made the diagnosis, 72.4 hours (95% CI = 51.2 to 93.7) if the initial office physician missed the diagnosis, and 63.1 hours (95% CI = 47.9 to 78.4) if the initial emergency physician missed the diagnosis. Patients whose diagnosis was initially missed by the physician had fewer signs and symptoms of appendicitis than patients whose diagnosis was made initially [appendicitis score 2.0 (95% CI = 1.6 to 2.3) vs 6.5 (95% CI = 6.4 to 6.7)]. Older patients (>41 years old) had more false-negative decisions and a higher risk of perforation or abscess (3.5 OR 95% CI = 2.4 to 5.1). False-positive decisions were made for patients who had signs and symptoms similar to those of appendicitis patients [appendicitis score 5.7 (95% CI = 5.2 to 6.1) vs 6.5 (95% CI = 6.4 to 6.7)]. Female patients had an increased risk of false-positive surgery (2.3 OR 95% CI = 1.5 to 3.4). The abdominal pain arm of the study included 1,118 consecutive patients submitted by eight hospitals, with 44 patients having appendicitis. Hospitals with observation units compared with hospitals without observation units had a higher "rule out appendicitis" evaluation rate [33.7% (95% CI = 27 to 38) vs 24.7% (95% CI = 23 to 27)] and a similar hospital admission rate (27.6% vs 24.7%, p = NS). There was a lower miss-diagnosis rate (15.1% vs 19.4%, p = NS power 0.02), lower perforation rate (19.0% vs 20.6%, p = NS power 0.05), and lower abscess rate (5.6% vs 6.9%, p = NS power 0.06), but these did not reach statistical significance. CONCLUSIONS: Errors in physician diagnostic decisions correlated with patient clinical findings, i.e., the missed diagnoses were on appendicitis patients with few clinical findings and unnecessary surgeries were on non-appendicitis patients with clinical findings similar to those of patients with appendicitis. Adverse events (perforation, abscess formation) correlated with physician false-negative decisions.

Implementing emergency department observation units within a multihospital network.

BACKGROUND: The proportion of emergency department (ED) chest pain patients who undergo an extended "rule out MI (myocardial infarction)" evaluation beyond the ED determines both the quality and cost of patient care. The higher an organization's rate of such evaluations, the lower the average miss rate for MI. Five of the 13 hospitals in the Voluntary Hospital Association Northeast multihospital network implemented ED observation units by June 1997 for outpatient rule out MI evaluations. RESULTS: Compared with historical and case controls, the five hospitals with ED observation units had a higher observation rate (16% versus 0% [p < .001] and 2% [p < .001]) and a higher rule out MI evaluation rate (61% versus 46% [p < .01] and 45% [p < .01]), without a significantly higher admission rate (47% versus 46% and 45%). For the three hospitals with observation units that collected charge data during 1997 on a consecutive series of chest pain patients who had negative rule out MI evaluations, charges for patient services were lower for patients evaluated in the ED observation unit ($2,214.80 +/- $80.40) than in the hospital ($5,464.30 +/- $393.60). CONCLUSIONS: ED observation units represent a cost-effective restructuring of the diagnostic approach to patients with acute chest pain. In an improvement of quality of patient care, a larger proportion of ED chest pain patients receive an extended evaluation than is possible with hospital admission as the only ED disposition option.

Correlation of the Agency for Health Care Policy and Research congestive heart failure admission guideline with mortality: peer review organization voluntary hospital association initiative to decrease events (PROVIDE) for congestive heart failure.

STUDY OBJECTIVE: We quantify patient risk as related to the presence or absence of the Agency for Health Care Policy and Research (AHCPR) congestive heart failure (CHF) hospital admission criteria. METHODS: This was a retrospective observational cohort study at 12 acute care hospitals examining consecutive patients with the final primary diagnosis of CHF. Trained record abstractors blinded to outcome extracted 386 data elements, including 6 AHCPR admission criteria: (1) pulmonary edema (determined by radiograph) or severe respiratory distress (respiration >40 breaths/min), (2) hypoxia (oxygen saturation <90%) not caused by pulmonary disease, (3) significant edema (>/=+2) or anasarca, (4) symptomatic hypotension (<90 mm Hg systolic blood pressure) or syncope, (5) CHF of recent onset, and (6) clinical evidence (chest pain) of myocardial ischemia. The association between admission criteria and mortality rate (30 days, 6 months, and 1 year) was quantified and risk adjusted by stepwise logistic regression analysis. RESULTS: Of the 1,674 patients with CHF, 1,340 (80%) were admitted to the hospital. Patients not admitted had a lower mortality rate than admitted patients (30-day mortality rate, 2.1% [95% confidence interval [CI] 0.6 to 3.6] versus 11.5% [95% CI 9.8 to 13.2]; odds ratio 0.20 [95% CI 0.09 to 0.45]). Two of the admission criteria did not correlate with a higher mortality rate: CHF of recent onset and myocardial ischemia. Excluding those 2 criteria, the number of admission criteria present correlated with the patient's probability of hospital admission (P <.001), length of hospital stay (P =.014), and 30-day mortality rate (P <.0001). When zero or 1 admission criteria was present, physician clinical judgment did distinguish patients less likely to die in the subsequent 30 days (1.5% [95% CI 0.2 to 2.8] sent home versus 10.2% [95% CI 8.5 to 11.9] admitted). When 2 or more admission criteria were present, physician clinical judgment did not distinguish patients less likely to die in the subsequent 30 days (18.2% [95% CI 0 to 42.0] sent home versus 19.4% [95% CI 13.6 to 25.2] admitted). CONCLUSION: Selected criteria of the AHCPR CHF admission guideline correlate with mortality rate. Combined with physician clinical judgment, they may be useful in the risk stratification of patients with CHF. Selected low-risk patients with CHF identified by the admission criteria who are presently managed in the acute care hospital may be candidates for outpatient management. [Graff L, Orledge J, Radford MJ, Wang Y, Petrillo M, Maag R: Correlation of the Agency for Health Care Policy and Research congestive heart failure admission guideline with mortality: Peer Review Organization Voluntary Hospital Association Initiative to Decrease Events (PROVIDE) for congestive heart failure.

Improving chest pain evaluation within a multihospital network by the use of emergency department observation units.

BACKGROUND: Since 1993 the 13 VHA Southern New England (VHA-SNE) hospitals have been engaged in a regionally sponsored initiative to analyze and improve selected clinical processes. Nine of these hospitals have chosen to participate in an initiative in which observation units were postulated to offer a tool for improving the care of patients with chest pain-the VHA initiative to Implement Chest Pain Treatment in Observation Units. THE FIVE PHASES: In phase 1 of the initiative, the VHA-SNE's Clinical Benchmarking Work Group reviewed the medical literature, which confirmed longstanding systemic and pervasive problems in the evaluation of chest pain patients. The work group's preferred practice was the outpatient "rule out myocardial infarction [MI] evaluation" program during monitored observation; serial testing can accurately diagnose low- and moderate-probability patients with MI. In Phase 2 the study group surveyed the emergency departments in the nine hospitals, discovering significant variation in admission rates and practice patterns. During phase 3 the work group identified a health care organization demonstrating best-practice performance--one of the few hospitals in the nation with an operational outpatient "rule out MI evaluation" program. A team site-visited that organization and recorded information about its structure and processes. VHA-SNE then published a monograph that identified its current performance, described the best-practice approach, offered strategies to implement the model program, and analyzed the financial implications and return on investment. In phase 4 a pilot hospital implemented the model program, which in phase 5 is being extended to the other hospitals represented in the work group. Information regarding protocols, lessons learned, and barriers to implementation was freely provided.