Distal humeral septic non-union treated with debridement and vascularized fibular transfer: case report and review of the literature.

Clinical management of a septic non-union of the distal humerus is challenging and is complicated by the diversity of potential treatments which are variably successful. We report a novel and very successful treatment of a 58-year-old man presenting an infected non-union of the right distal humerus, secondary to a closed fracture initially treated with two anatomic plates. After hardware removal, a two-stage reconstruction was performed. Bone and soft-tissue debridement was performed, followed by vascularized fibular transfer and free iliac bone crest chips fixed with plates and screws. Consolidation was achieved within three months, and a very good elbow function was presented two years thereafter. This technique shows great promise for improved management of large segmental infected bone defects of complete articular distal humeral fractures, above many currently recognized treatments.

Preoperative magnetic resonance and intraoperative ultrasound fusion imaging for real-time neuronavigation in brain tumor surgery.

PURPOSE: Brain shift and tissue deformation during surgery for intracranial lesions are the main actual limitations of neuro-navigation (NN), which currently relies mainly on preoperative imaging. Ultrasound (US), being a real-time imaging modality, is becoming progressively more widespread during neurosurgical procedures, but most neurosurgeons, trained on axial computed tomography (CT) and magnetic resonance imaging (MRI) slices, lack specific US training and have difficulties recognizing anatomic structures with the same confidence as in preoperative imaging. Therefore real-time intraoperative fusion imaging (FI) between preoperative imaging and intraoperative ultrasound (ioUS) for virtual navigation (VN) is highly desirable. We describe our procedure for real-time navigation during surgery for different cerebral lesions. MATERIALS AND METHODS: We performed fusion imaging with virtual navigation for patients undergoing surgery for brain lesion removal using an ultrasound-based real-time neuro-navigation system that fuses intraoperative cerebral ultrasound with preoperative MRI and simultaneously displays an MRI slice coplanar to an ioUS image. RESULTS: 58 patients underwent surgery at our institution for intracranial lesion removal with image guidance using a US system equipped with fusion imaging for neuro-navigation. In all cases the initial (external) registration error obtained by the corresponding anatomical landmark procedure was below 2 mm and the craniotomy was correctly placed. The transdural window gave satisfactory US image quality and the lesion was always detectable and measurable on both axes. Brain shift/deformation correction has been successfully employed in 42 cases to restore the co-registration during surgery. The accuracy of ioUS/MRI fusion/overlapping was confirmed intraoperatively under direct visualization of anatomic landmarks and the error was < 3 mm in all cases (100 %). CONCLUSION: Neuro-navigation using intraoperative US integrated with preoperative MRI is reliable, accurate and user-friendly. Moreover, the adjustments are very helpful in correcting brain shift and tissue distortion. This integrated system allows true real-time feedback during surgery and is less expensive and time-consuming than other intraoperative imaging techniques, offering high precision and orientation.

Contralateral spinal accessory nerve: a suitable "new" donor nerve for heterotopic nerve transfer in total brachial plexus palsy.

Patients with complete brachial plexus palsy with avulsion of 4-5 roots often have a paucity of suitable donor nerves to provide for a proper functional recovery of the upper extremity. The spinal accessory nerve is routinely employed ipsilaterally for nerve transfer to the suprascapular nerve. The purpose of this paper is to describe the clinical use of the contralateral spinal accessory nerve as a donor nerve for brachial plexus surgery. Since 2005 the contralateral spinal accessory nerve has been used for neurotization of the axillary nerve in selected cases of total brachial plexus injuries. In this paper total plexus palsy surgical strategies, technical details and preliminary functional outcomes of a group of 6 consecutive patients with a minimum follow-up of 30 months (76-31, average 55) are described. The preliminary results are encouraging: the functional outcome of the deltoid muscle, evaluated according to the British Medical Research Council grading system, was M4 in 1 patient, M3 in 1 patient, M2 in 2 patients, M1 in 1 patient, and M0 in 1 patient. In conclusion, the use of the contralateral spinal accessory nerve shows good results in terms of functional recovery and the simplicity of the procedure.

Efficiency of Hyaloglide in the prevention of the recurrence of adhesions after tenolysis of flexor tendons in zone II: a randomized, controlled, multicentre clinical trial.

Hyaloglide is a hyaluronan-based gel based on a novel auto-crosslinked technology designed to reduce postsurgical adhesions. Its efficacy was assessed in a multicentred randomized controlled trial comparing the results of flexor tenolysis in zone 2 following failed flexor tendon repairs. In the control group a standard release was performed. In the treated group, Hyaloglide was applied into the flexor sheath and around the site of tenolysis. Forty-five patients, 19 controls and 26 treated with Hyaloglide, were enrolled in 13 centres. All the patients were evaluated at 30, 60, 90 and 180 days after surgery by testing Total Active Motion, Quick-DASH questionnaire and number of working days lost after surgery. Patients in the Hyaloglide group had a statistically better recovery of finger motion at all time intervals and returned earlier to work and daily activities. The use of Hyaloglide did not appear to increase the complication rate.

Prevalence of depressive disorders and change over time in late-stage ALS.

OBJECTIVE: To determine the prevalence of depressive disorders and symptoms in patients with late-stage ALS, to identify possible risk and protective factors associated with depression, and to determine whether depression increases as death approaches. METHODS: Semistructured interviews were conducted monthly with hospice-eligible patients with ALS and caregivers until the study endpoints of death or tracheostomy. Standardized measures were administered to assess depressive disorders and symptoms, hopelessness, spiritual beliefs, attitudes toward hastened death, quality of life, and related constructs. RESULTS: Sixty-three percent of eligible patients were enrolled. Of the 80 participants, 17 were seen only once; the number of monthly assessments for the others ranged from 2 to 18. For the 53 patients who died, median interval between last assessment and death was 30 days. At study baseline, 81% had no depressive disorder, 10% had minor depression, and 9% had symptoms consistent with major depression. Diagnoses of depression were made on 16% of 369 monthly assessments. Fifty-seven percent of patients never had a depression diagnosis at any visit, and 8% were depressed at all visits. There was no trend toward increasing depression as death approached. Presumed protective factors including spiritual beliefs, spouse as care partner, financial situation, depression in caregiver, and hospice participation did not distinguish between those who were depressed and those who were not. CONCLUSIONS: Results of multiple measures of depression and distress converged to indicate that major depression in people with late-stage ALS is rare, although transient depressive symptoms may occur, and depression does not generally increase as death approaches.

Wish to die in end-stage ALS.

BACKGROUND: In retrospective studies, estimates of hastened dying among seriously ill patients range from <2% in one national survey to as much as 20% in end-stage disease cohorts. OBJECTIVE: To examine, in prospective studies, dying patients in the months before death, in order to understand the wish to die. METHODS: Patients with advanced ALS with a high likelihood of death or need for tracheostomy within 6 months were identified. Patients were assessed monthly with an extensive psychosocial interview, including a diagnostic interview for depression. Family caregivers were interviewed on the same schedule and also after patient deaths. RESULTS: Eighty patients with ALS were enrolled, 63% of eligible patients; 53 died over follow-up. Ten (18.9%) of the 53 expressed the wish to die, and 3 (5.7%) hastened dying. Patients expressing the wish to die did not differ in sociodemographic features, ALS severity, or perceived burden of family caregivers. They were more likely to meet criteria for depression, but differences were smaller when suicidality was excluded from the depression interview. Patients who expressed the wish to die reported less optimism, less comfort in religion, and greater hopelessness. Compared with patients unable to act on the wish to die, patients who hastened dying reported reduction in suffering and increased perception of control over the disease in the final weeks of life. CONCLUSION: These findings suggest caution in concluding that the desire to hasten dying in end-stage disease is simply a feature of depression.

Objective tests for upper motor neuron involvement in amyotrophic lateral sclerosis (ALS).

OBJECTIVE: To develop objective markers for upper motor neuron (UMN) involvement in ALS, the value of single-voxel MR spectroscopy (MRS) and transcranial magnetic stimulation (TMS) was studied. METHODS: Test results of 164 ALS patients who had MRS only (n = 91), TMS only (n = 13), or both (n = 60) were analyzed; also, 11 autopsy examinations were evaluated. RESULTS: Abnormal test results consistent with UMN involvement were found in 134 patients with clinical UMN signs: 86% on MRS, 77% on TMS, and 70% on MRS and TMS together. Among 30 patients with solely LMN signs (progressive muscular atrophy), UMN results were found in 63% on MRS, 63% on TMS, and 46% on both tests together. There was a significant association of the degree of abnormal N-acetyl aspartate/creatine ratios with UMN signs (p = 0.01). The sensitivity to detect UMN involvement was 0.86 for MRS (specificity 0.37) and 0.77 for TMS (specificity 0.38). At autopsy, all 11 patients had pathologic UMN abnormalities, including 4 with normal MRS and 1 with normal TMS in life. CONCLUSIONS: MRS is highly sensitive, somewhat more than TMS, and shows good correlation with clinical UMN signs. Combining MRS and TMS results in the same patient with further refinement may help in the early diagnosis of ALS.

Disparities in perceptions of distress and burden in ALS patients and family caregivers.

OBJECTIVES: To examine agreement between end-stage ALS patients and their family caregivers on indicators of physical and psychological status at the end of life. METHODS: Patient-caregiver pairs completed monthly interviews in patient homes. Patients were asked to rate their current pain, energy, suffering, depression, control over ALS, optimism, interest in hastened death, weariness from ALS, will to live, and how burdened they thought caregivers were on Visual Analogue Scales. Caregivers completed identical ratings of patients as well as a measure of their own burden. Both independently completed the ALS Functional Rating Scale-Rev. (ALSFRS-R), a measure of patient disability and physical function. RESULTS: A total of 69 patient-caregiver pairs participated. For measures of physical function, kappa ranged from 0.49 to 0.83, indicating moderate to excellent agreement. Patient and caregiver composite ALSFRS-R scores were highly correlated (r = 0.92, p < 0.001). Agreement between patients and caregivers was high for ratings of patient pain, control over ALS, optimism, and will to live, and this level of agreement remained high over multiple assessments. In pairwise analyses, caregivers rated patients as having less energy, greater suffering, and greater weariness than patients indicated for themselves, whereas patients rated caregivers as more burdened than caregivers reported for themselves. CONCLUSIONS: Caregivers can accurately report information about a patient's physical function at the end of life. However, patients and caregivers each overestimated the psychosocial impact of the disease on the other.

Identification of a novel mutation in Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis.

We report a new missense mutation (Ala140Gly) in exon 5 of the Cu/Zn superoxide dismutase (SOD-1) gene in a 73-year-old man with familial amyotrophic lateral sclerosis (FALS). The enzymatic activity of mutated SOD-1 measured in erythrocyte lysate was 70% of control. This heterozygote mutation, which is associated with the late onset of the disease, is located in the active site of the enzyme.

Incidence and predictors of PEG placement in ALS/MND.

In the Project on Death in America ALS cohort, 121 patients were followed to examine the timing of key milestones in the course of the disease, such as tracheostomy and PEG placement. During the 2- to 4-year follow-up period, 26.5% of patients received PEG, yielding a cumulative incidence of 48%. PEG placement occurred, on average, 16 months after patients received confirmation of the diagnosis at our Center. Patients who received PEG were more likely to have tracheostomies than patients not using PEG (p<0.01). In multivariate proportional hazard models that included both sociodemographic and disease indicators, the strongest predictor of PEG use was a patient's baseline preference for PEG: 57.1% of patients "absolutely in favor" went on to have PEG, compared to only 9.3% of those "absolutely against" (p<0.01). PEG users were more likely to have initiated health care proxies. These findings suggest that patients who use PEG may be consistently proactive in the face of the disease.

The ALS Patient Care Database: insights into end-of-life care in ALS.

OBJECTIVE: To study clinical practices and patient outcomes near the end of life in amyotrophic lateral sclerosis (ALS). BACKGROUND: Patients, families, and healthcare providers face several dilemmas in selecting and delivering care near the end of life in ALS. Published data on clinical practices and their benefits during end-of-life care for ALS patients consist of anecdotal reports based on small case series or individual case reports. METHODS: Data were obtained from 1014 American and Canadian patients with ALS who died while participating in a large observational registry (the ALS Patient Care Database) during the past four years. Following death, a caregiver or family member provided data for each patient using a standard questionnaire. Data were principally generated through American and Canadian ALS multidisciplinary centers of excellence. RESULTS: Most patients died peacefully (90.7%) and 62.4% died in a hospice-supported environment. Advance directives were in place for 88.9% of patients and were followed in 96.8%. Among the 67 patients who exhibited distress in the dying process, symptoms included breathing difficulties (82.1%), fear/anxiety (55.2%), pain (23.9%), insomnia (14.9%), and choking (14.93%). Oxygen was given to 52.6% of patients, and pain medications were given to 74%. CONCLUSION: These data suggest that palliative care at the end of life was relatively well managed for most patients with ALS who participated in this study; nevertheless, several opportunities for improvement were identified.

Impact of spirituality and religiousness on outcomes in patients with ALS.

The Project of Death in America Study at Columbia Presbyterian Medical Center enrolled 121 patients with ALS from 1996 through 1997, 46 of whom participated in a study assessing the effects of religiousness and spirituality (attachment to life, mental health, support group, health care proxy, and attitudes toward death) on outcomes (technology and death). Spirituality or religion influenced use of percutaneous endoscopic gastrostomy, noninvasive assisted ventilation, tracheotomy, and attitudes toward the dying process.

Resilience and distress among amyotrophic lateral sclerosis patients and caregivers.

OBJECTIVES: The objectives of this study were to assess the prevalence of depressive disorders and symptoms and their correlates in patients with amyotrophic lateral sclerosis (ALS) and caregiver spouses and to identify dimensions of resilience as well as distress. METHODS: Fifty-six patients with ALS and 31 caregivers were interviewed on one occasion, and 20 patients were subsequently reinterviewed during a scheduled medical visit at an ALS center. Major measures included the Structured Clinical Interview for DSM-IV, the Beck Depression Inventory, the Schedule of Attitudes Toward Hastened Death, quality of life, spirituality, and degree of hopelessness. The ALS Functional Rating Scale, spirometry measures of forced vital capacity, and the Karnofsky Performance Index were used to assess physical status. RESULTS: Neither patients nor caregivers displayed significant psychopathology with respect to either current depressive disorders or scores on symptom scales. Depressive symptoms and psychological distress were not related to time since diagnosis, degree of disability, or illness progression during the period of observation. More interest in hastened death was associated with greater distress, but willingness to consider assisted suicide was not. Among caregivers, perceived caregiver burden was significantly associated with finding positive meaning in caregiving. Concordance between patient and caregiver distress was high, suggesting that attention to the mental health needs of caregivers may alleviate the patient's distress as well. CONCLUSIONS: Clinical depression or significant depressive symptomatology is not an inevitable or common outcome of life-threatening illness, even in the presence of major disability.

Improving the quality of life for people with ALS: the challenge ahead.

In tandem with recent progress in basic and clinical research in amyotrophic lateral sclerosis (ALS), clinical care and management has improved substantially. Key processes and practices have been established and are specified in current ALS Practice Parameters; the international ALS databases identify the current status of care and management given by physicians. A number of prospective clinical management research studies are now well underway to establish the effective utility of enteral feeding, assistive ventilatory device, and exercise in patients with ALS. One of the main research objectives in the clinical management of ALS is to improve patients' quality of life. For patients with ALS, only comprehensive multidisciplinary care can effectively improve their overall quality of life from diagnosis to death. This paper will briefly review a number of factors that must be considered if we are to improve the quality of life for these patients, including comprehensive medical management, patient education, the importance of hope, the role of the health care professional, and the patients themselves.

Mother with amyotrophic lateral sclerosis and daughter with Creutzfeldt-Jakob disease.

OBJECTIVE: To describe a mother who had autopsy-proved amyotrophic lateral sclerosis and her daughter who had clinically diagnosed Creutzfeldt-Jakob disease. DESIGN: Case reports with molecular genetic analyses. SETTING: A tertiary care center. PATIENTS: The mother had progressive upper and lower motor neuron symptoms and signs starting at the age of 54 years. Electrophysiological testing supported the diagnosis of amyotrophic lateral sclerosis. Autopsy results confirmed the diagnosis. Her daughter had received injections of human growth hormone prepared from pooled human pituitary glands as a child. At the age of 31 years, she experienced the onset of gait ataxia and dysarthria. Cerebrospinal fluid showed the 14-3-3 protein. Cognitive difficulties ensued. She progressed to a nearly akinetic and mute state. She had overt visible fasciculations and muscle atrophy in the legs. MAIN OUTCOME MEASURES AND RESULTS: Neither patient carried a mutation in the prion protein gene. Both were homozygous for methionine at the polymorphic codon 129. Neither patient carried a deletion of the 5 exons of the superoxide dismutase 1 gene. CONCLUSIONS: It is uncertain whether the 2 cases occurred in the same family by chance or whether the patients shared genetic risk factors for the 2 diseases. The possibility that homozygosity at codon 129 is a risk factor for amyotrophic lateral sclerosis is being tested in a case-control study.

Prospective study of palliative care in ALS: choice, timing, outcomes.

To understand palliative care choices among people with ALS, it is important to follow a group of recently diagnosed patients and record when patients reach well-defined palliative care milestones. We began following such a cohort prospectively in 1996, when 121 ALS patients were enrolled from a tertiary care clinic. These patients are assessed every 4 months to determine their experience with ameliorative and palliative care. Domains include adjuvant therapies (e.g. speech therapy), adaptive aids (e.g. wheelchair use, augmentative communication), home health care, PEG placement, pulmonary support, health care directives, psychosocial care (e.g. participation in support group, pastoral counseling), and hospitalization. The median follow-up time for the cohort, to date, was 12 months. In the group that entered the cohort within 1 year of their diagnosis (n=93), 53.8% have died, 22.6% have had PEG, 19.4% have used Bi-PaP, and 4.3% have had a tracheostomy. Many patients did not take advantage of palliative care options before death; for example, 36.6% used hospice, 48% had signed a power of attorney form, and 18% had 'do not resuscitate' orders in their medical charts. Examining time to such endpoints captures important features of patient and family experience with the disease.