Discordant repeat size and phenotype in Kennedy syndrome

Previous reports in the literature have described correlation of increasing repeat length with severity of the phenotype, in Kennedy syndrome. We describe male siblings with different repeat lengths, with lack of expression of the phenotype in the sibling with the longer repeat length. The phenotype was identical to motor neurone disease. There is variability of expression in Kennedy syndrome and repeat length even in siblings cannot be taken as a conclusive indicator of severity. CAG repeat length cannot be used to predict the natural history of Kennedy disease. The diagnosis of Kennedy syndrome should be considered in male patients presenting with atypical motor neurone disease.     

Surgical critical care: from old boundaries to new frontiers.

The surgical specialty of critical care has evolved into a field where the surgeon manages complex medical and surgical problems in critically ill patients. As a specialty, surgical critical care began when acutely ill surgical patients were placed in a designated area within a hospital to facilitate the delivery of medical care. As technology evolved to allow for development of increasingly intricate and sophisticated adjuncts to care, there has been recognition of the importance of physician availability and continuity of care as key factors in improving patient outcomes. Guidelines and protocols have been established to ensure quality improvement and are essential to licensing by state and national agencies. The modern ICU team provides continuous daily care to the patient in close communication with the primary operating physician. While the ultimate responsibility befalls the primary physician who performed the preoperative evaluation and operative procedure, the intensivist is expected to establish and enforce protocols, guidelines and patient care pathways for the critical care unit. It is difficult to imagine modern surgical ICU care without the surgical critical care specialist at the helm.     

Imaging spectrum in disseminated histoplasmosis: Case report and brief review

The clinical manifestations of chronic disseminated histoplasmosis are non-specific and resemble those of other chronic infections and malignancies. We report the radiographic, sonographic and contrast-enhanced CT appearances of histoplasmosis in an adult male with non-insulin dependent diabetes mellitus, who was HIV negative and presented with weight loss and pyrexia. Imaging studies simulated tuberculosis with mediastinal lymphadenopathy, bilateral fibrotic lung lesions, hepatomegaly and bilateral hypoattenuating adrenal enlargement, without clinical or laboratory evidence of hypoadrenalism. Computed tomography-guided fine-needle aspiration biopsy of adrenal glands revealed Histoplasma capsulatum. We report our experience to increase awareness of the imaging spectrum of disseminated histoplasmosis and its similarity to tuberculosis as, with increasing incidence of AIDS, the chances of these infections are likely to increase. Moreover, awareness of this entity is important because it is known that untreated disseminated histoplasmosis is fatal.     

Defining the learning curve for the Focused Abdominal Sonogram for Trauma (FAST) examination: implications for credentialing

Focused Abdominal Sonogram for Trauma (FAST) examination is being used increasingly for the torso evaluation of injured patients. In a controlled setting using peritoneal dialysis patients as models for injured patients with free fluid we hypothesized that more experienced providers would perform FAST with greater accuracy. Twelve fellow or attending level trauma surgeons, two radiologists, and one ultrasound technician were studied for their ability to detect intraperitoneal fluid (0-1600 cm3) in nine peritoneal dialysis patients with two different volumes of dialysate/patient. FAST experience with injured patients was defined as minimal (<30 patients examinations), moderate (30-100), or extensive (>100). All surgeons had participated in a didactic/practical course before the study. Test results were reported as "+" or "-" by the participant; "+" results were further quantified by volume. The sensitivity of those in the minimal-, moderate-, and extensive-experience to detect <1 L was 45, 87, and 100 per cent, respectively; the accuracy in detecting dialysate volume within 250 cm3 was 38, 63, and 90 per cent, respectively. In this controlled setting the accuracy of FAST particularly in diagnosing smaller volumes, as well as the ability to quantify volume, improves with experience. The learning curve for FAST starts to flatten out at 30 to 100 examinations. Training and credentialing policies should consider these findings to optimize patient care.     

The invisible trauma patient: emergency department discharges

BACKGROUND: As the malpractice and financial environment has changed, injured patients evaluated by the trauma team and discharged from the emergency department (ED) are now commonplace. The evaluation, care, and disposition of this population has become a significant workload component but is not reported to accrediting organizations and is relatively invisible to hospital administrators. Our objective was to quantify and begin to qualify the evolving picture of the trauma ED discharge population as a work component of trauma service function in an urban, Level I trauma center with an aeromedical program. METHODS: Trauma registry (contacts, mechanism, transport, injuries, and disposition) and hospital databases (ED closure, occupancy rates) were queried for a 5-year period (1999-2003). Trend analysis provided statistical comparisons for questions of interest. RESULTS: During the 5-year study period, the total number of trauma contacts rose by 18.1% (2,220 in 1999 vs. 2,622 in 2003; trend p < 0.05). This increase in total contacts was not a manifestation of an increase in admissions (1,672 in 1999 vs. 1,544 in 2003) but rather a reflection of a marked increase in patients seen primarily by the trauma team and discharged from the ED (473 in 1999 vs. 1,000 in 2003; trend p < 0.05). These ED discharge patients were increasingly transported by helicopter (12.3% in 1999 vs. 29.2% in 2003; trend p < 0.05) and less frequently from urban areas (57.1% in 1999 vs. 48.1% in 2003; trend p < 0.05) over the course of the study period. Average injury severity of this group increased over the study period (Injury Severity Score of 2.7 +/- 0.1 in 1999 vs. 3.3 +/- 0.1 in 2003; trend p < 0.05). ED length of stay for this group increased 19.8% over the study period (trend p < 0.05), averaging nearly 5 hours in 2003. CONCLUSION: The total number, relative percentage, and injury severity of patients evaluated by the trauma team and discharged from the ED has significantly increased over the last 5 years, representing nearly 5,000 patient care hours in 2003. Systems to care for these patients in a cost- and resource-efficient fashion should be put in place. The impact of this growing population of patients on the workload of the trauma center should be recognized by accrediting agencies, hospital administration, and Emergency Medical Services.     

Use of goniometry to predict inadequate flexion-extension roentgenograms: a preliminary study

BACKGROUND: Flexion-extension roentgenograms (FER) of the cervical spine are often inadequate because of limited range of motion (ROM). The purpose of this study was to determine the utility of goniometry to predict a patient's ability to achieve sufficient ROM to obtain adequate FER. METHODS: We evaluated 65 consecutive blunt trauma patients undergoing evaluation by FER in the emergency department. Patients were evaluated by goniometry before performing FER. Adequate ROM was defined as flexion and extension of >30 degrees from neutral. RESULTS: Seventy-five percent of patients had adequate FER. All of these patients were predicted to have sufficient ROM by goniometry. Goniometry predicted limited ROM in 69% of patients who had inadequate FER. The positive predicative value of goniometry in predicting inadequate FER was 100%. The incidence of cervical spine injuries was 44% in patients with inadequate ROM by goniometry and 23.0% in patients with inadequate FER (versus 7.69% in patients with adequate FER). CONCLUSION: Goniometry accurately predicted those patients who were unable to achieve sufficient ROM for adequate FER. Patients with inadequate FER were at a higher risk for cervical spine injury compared with patients with adequate FER (23.0 versus 7.69%). Early identification of these patients will help limit the number of inadequate studies obtained and expedite evaluation of high-risk patients.     

The inefficiency of plain radiography to evaluate the cervical spine after blunt trauma

BACKGROUND: Controversy persists regarding the most efficient and effective method of cervical spine evaluation after blunt trauma. Historic guidelines for patients undergoing computed tomography (CT) of the head advocate imaging the occiput-C2 as part of that study. For the remaining cervical spine, plain cervical spine radiographs (CSR) with supplemental CT are recommended. Many patients who require head CT also undergo supplemental cervical spine CT after plain CSR, which leads to separate, discontinuous cervical spine CT scans. We sought to determine the incidence of this in our population. We hypothesized that plain CSR alone often proves inadequate to evaluate the cervical spine in patients who require head CT. METHODS: The Eastern Association for the Surgery of Trauma (EAST) guidelines for cervical spine evaluation after blunt trauma were previously adopted and followed during the study period from December 1, 2002 to July 1, 2003. Our protocol included cross-table lateral and anteroposterior CSR with the occiput-C2 imaged with the head CT. We used segmental cervical spine CT to supplement those regions inadequately visualized by plain films. The electronic charts of 848 consecutive blunt trauma victims were retrospectively reviewed. The data abstracted included demographics, injury severity score, and the use and results of head CT and radiographic evaluation of the cervical spine. RESULTS: Of 848 consecutive blunt trauma patients, 716 (84.4%) underwent head CT. Average age was 44 years old, and average Injury Severity Score was 9. Seventy-six patients (11.6%) had clinical cervical spine examination alone, whereas 640 (89.4%) underwent plain CSR. In 178 patients (27.8%), plain two-view CSR visualized the entire cervical spine. Plain CSR were inadequate to visualize the complete cervical spine in 462 patients (72.2%). Of these patients, segmental CT was performed in 400 (87.6%). The remaining 62 (13.4%) patients did not have radiologic completion of their cervical spine evaluation before clinical examination. Nineteen patients (3.0%) had cervical spine fractures diagnosed on CT, of which only 6 (31.6%) were seen on plain CSR. The sensitivity and specificity of CSR to detect fractures was 31.6 and 99.2%, respectively. CONCLUSION: Plain CSR are inadequate to fully evaluate the cervical spine after blunt trauma, and supplemental CT is commonly required. Complete cervical spine CT is available, efficient, and accurate. Our findings support a growing body of literature that suggests that this modality should be used for blunt trauma patients who require radiographic evaluation of the cervical spine. Plain cervical spine radiographs need not be obtained. The EAST guidelines for cervical spine evaluation after blunt trauma should be updated to reflect this evolving practice pattern.     

Reduced mortality rate in patients with severe traumatic brain injury treated with brain tissue oxygen monitoring

OBJECT: An intracranial pressure (ICP) monitor, from which cerebral perfusion pressure (CPP) is estimated, is recommended in the care of severe traumatic brain injury (TBI). Nevertheless, optimal ICP and CPP management may not always prevent cerebral ischemia, which adversely influences patient outcome. The authors therefore determined whether the addition of a brain tissue oxygen tension (PO2) monitor in the treatment of TBI was associated with an improved patient outcome. METHODS: Patients with severe TBI (Glasgow Coma Scale [GCS] score < 8) who had been admitted to a Level I trauma center were evaluated as part of a prospective observational database. Patients treated with ICP and brain tissue PO2 monitoring were compared with historical controls matched for age, pathological features, admission GCS score, and Injury Severity Score who had undergone ICP monitoring alone. Therapy in both patient groups was aimed at maintaining an ICP less than 20 mm Hg and a CPP greater than 60 mm Hg. Among patients whose brain tissue PO2 was monitored, oxygenation was maintained at levels greater than 25 mm Hg. Twenty-five patients with a mean age of 44 +/- 14 years were treated using an ICP monitor alone. Twenty-eight patients with a mean age of 38 +/- 18 years underwent brain tissue PO2-directed care. The mean daily ICP and CPP levels were similar in each group. The mortality rate in patients treated using conventional ICP and CPP management was 44%. Patients who also underwent brain tissue PO2 monitoring had a significantly reduced mortality rate of 25% (p < 0.05). CONCLUSIONS: The use of both ICP and brain tissue PO2 monitors and therapy directed at brain tissue PO2 is associated with reduced patient death following severe TBI.     

Cerebral cortical oxygenation: a pilot study

BACKGROUND: Cerebral hypoxia (cerebral cortical oxygenation [Pbro2] < 20 mm Hg) monitored by direct measurement has been shown in animal and small clinical studies to be associated with poor outcome. We present our preliminary results observing Pbro2 in patients with traumatic brain injury (TBI). METHODS: A prospective observational cohort study was performed. Institutional review board approval was obtained. All patients with TBI who required measurement of intracranial pressure (ICP), cerebral perfusion pressure (CPP), and Pbro2 because of a Glasgow Coma Scale score < 8 were enrolled. Data sets (ICP, CPP, Pbro2, positive end-expiratory pressure (PEEP), Pao2, and Paco2) were recorded during routine manipulation. Episodes of cerebral hypoxia were compared with episodes without. Results are displayed as mean +/- SEM; t test, chi2, and Fisher's exact test were used to answer questions of interest. RESULTS: One hundred eighty-one data sets were abstracted from 20 patients. Thirty-five episodes of regional cerebral hypoxia were identified in 14 patients. Compared with episodes of acceptable cerebral oxygenation, episodes of cerebral hypoxia were noted to be associated with a significantly lower mean Pao2 (144 +/- 14 vs. 165 +/- 8; p < 0.01) and higher mean PEEP (8.8 +/- 0.7 vs. 7.1 +/- 0.3; p < 0.01). Mean ICP and CPP measurements were similar between groups. In a univariate analysis, cerebral hypoxic episodes were associated with Pao2 < or = 100 mm Hg (p < 0.01) and PEEP > 5 cm H2O (p < 0.01), but not ICP > 20 mm Hg, CPP < or = 65 mm Hg, or Pac2 < or = 35 mm Hg. CONCLUSION: Cerebral oxymetry is confirmed safe in the patient with multiple injuries with TBI. Occult cerebral hypoxia is present in the traumatic brain injured patient despite normal traditional measurements of cerebral perfusion. Further research is necessary to determine whether management protocols aimed at the prevention of cerebral cortical hypoxia will affect outcome.