Characterizing the face in facioscapulohumeral muscular dystrophy.

OBJECTIVE: To evaluate facial weakness in patients with FSHD to better define clinical signs, and pilot a facial weakness severity score. METHODS: 87 FSHD patients and 55 controls were video recorded while performing seven facial tasks. The videos were assessed by three independent examiners to compile an overview of signs of facial weakness. Next, videos were semi-quantitatively assessed using a newly developed 4-point facial weakness score (FWS). This score was evaluated and correlated to other FSHD disease characteristics. RESULTS: Patients had lower scores on the total FWS than controls (mean score 43 ± 28, range 4-118, vs 14 ± 9, range 0-35, p < 0.001) and on all seven individual facial tasks (all p < 0.001). 54% of patients had FWS scores outside the range of controls. Patients had more asymmetry between the left and right side of the face than controls. About 10% of the patients had very mild facial weakness. These were mostly males (89%) with longer D4Z4 repeat sizes of 7-9 units. More severe facial weakness correlated to more severe overall disease severity and shorter D4Z4 repeat size, but not to disease duration. Interobserver agreement for the FWS between three raters was low with a Fleiss Kappa of 0.437. CONCLUSION: This study provides an overview of the clinical spectrum of facial weakness and its relation to other disease characteristics. The 4-point scale we introduced to grade the severity of facial weakness enables correlation of facial weakness to disease characteristics, but is not suited as clinical outcome measure for longitudinal studies.

Program on high value cost-conscious education in intensive care: Educational program on prediction of outcome and cost awareness on Intensive Care admission.

BACKGROUND: Intensive Care (ICU) involves extended and long lasting support of vital functions and organs. However, current training programs of ICU residents mainly focus on extended support of vital functions and barely involve training on cost-awareness and outcome. We incorporated an educational program on high-value cost-conscious care for residents and fellows on our ICU and measured the effect of education. METHODS: A cohort study with factorial survey design, in which ICU residents and fellows were asked to evaluate clinical vignettes, was performed on the mixed surgical-medical ICU of the Amsterdam University Medical Centre. Residents were offered an educational program focusing on outcome and costs of ICU care. Before and after the program they filled out a questionnaire, which consisted of 23 vignettes, in which known predictors of outcome of community acquired pneumonia (CAP), pancreatitis, acute respiratory distress syndrome (ARDS) and cardiac arrest were presented, together with varying patient factors (age, body mass index (BMI), acute kidney failure (AKI) and haemato-oncological malignancy). Participants were asked to either admit the patient or estimate mortality. RESULTS: BMI, haemato-oncological malignancy and severity of pancreatitis were discriminative for admission to ICU in clinical vignettes on pancreatitis and CAP. After education, only severity of pancreatitis was judged as discriminative. Before the intervention only location of cardiac arrest (in- vs out of hospital) was distinctive for mortality, afterwards this changed to presence of haemato-oncological malignancy. CONCLUSION: We incorporated an educational program on high-value cost-conscious care in the training of ICU physicians. Based on our vignette study, we conclude that the improvement of knowledge of costs and prognosis after this program was limited.

The efficacy of lymphaticovenular anastomosis in breast cancer-related lymphedema.

INTRODUCTION: Lymphedema can be a debilitating condition, causing a great decrease in a person's quality of life (QoL). Treatment with lymphaticovenular anastomosis (LVA), in which an anastomosis is created between the lymphatic and venous system, may attenuate lymphedema symptoms and reduce swelling. In this study, we share the results using LVA to treat breast cancer-related lymphedema (BCRL) at our institution. MATERIALS AND METHODS: Patients were eligible for inclusion if they suffered from unilateral BCRL, if functional lymphatics were available, if compression therapy was used for at least 6 months, and if the follow-up was 12 months at minimum. Lymph vessel functionality was assessed preoperatively using indocyanine green (ICG). During surgery, 1-3 anastomoses were created and shunt patency was confirmed using ICG. Arm volumes were measured before surgery and at 6- and 12-month follow-up. QoL was measured before surgery and at 6-month follow-up. Arm volume differences between the healthy arm and affected arm were compared between the time points. RESULTS: Twenty-nine consecutive female patients with unilateral BCRL were included. The preoperative mean difference in arm volumes was 701 ± 435 ml (36.9%). This was reduced to 496 ± 302 ml (24.7%) at 6-month follow-up (p = 0.00). At 12-month follow-up, the mean difference in arm volume was 467 ± 303 ml (23.5%) (p = 0.02). The overall perceived QoL was increased from 5.8 ± 1.1 to 7.4 ± 0.7 (p = 0.00). The functionality score decreased from 2.2 to 1.8 (p = 0.00), the appearance score decreased from 2.6 to 1.9 (p = 0.00), the symptoms score decreased from 2.8 to 1.8 (p = 0.00), and the mood score decreased from 2.7 to 1.5 (p = 0.00). Fifteen patients (53.6%) were able to discontinue the use of compression garment. CONCLUSION: Treatment with LVAs is effective in reducing arm volume difference in patients suffering from BCRL. Although no complete reduction of the edema was achieved at 12-month follow-up, the procedure significantly increased the patients' QoL.

Exercise adherence in patients with trismus due to head and neck oncology: a qualitative study into the use of the Therabite.

Trismus is a common problem after treatment of head and neck cancer. The Therabite is an effective treatment for trismus. To explore the factors that may influence Therabite exercise adherence, how these interrelate and to provide aims for interventions to increase adherence, the authors conducted a multi-centre, formal-evaluative qualitative retrospective study. 21 patients treated for head-neck cancer were interviewed in semi-structured, in-depth interviews. Internal motivation to exercise, the perceived effect, self-discipline and having a clear exercise goal influenced Therabite exercise adherence positively. Perceiving no effect, limitation in Therabite opening range and reaching the exercise goal or a plateau in mouth opening were negative influences. Pain, anxiety and the physiotherapist could influence adherence both positively and negatively. Based on the results, a model for Therabite exercise adherence was proposed. It is important to signal and assess the factors negatively influencing Therabite adherence, specifically before there is a perceived effect. Research is needed to examine why some patients do not achieve results despite high exercise adherence, to identify effective exercise regimens and to assess proposed interventions aimed to increase Therabite exercise adherence.

Contralateral reinnervation of midline muscles in facial paralysis.

We report on a patient with recovery of activity of the left orbicularis oris and nasalis muscles 3 months after a complete left facial palsy. Stimulation of the affected facial nerve evoked no responses, whereas contralateral facial nerve stimulation showed polyphasic responses with very long latencies in the nasalis and orbicularis oris muscles. Needle electromyography (EMG) revealed abnormal spontaneous activity in the left orbicularis oris muscle. The motor unit action potentials on the left side of the face could be recruited only during marked contraction of the corresponding muscles on the right and were of low voltage and polyphasic ("nascent potentials"). Contralateral reinnervation is probably due to sprouting of terminal branches crossing the midline of the face and innervating bundles of muscle fibers on the affected side. This phenomenon seems unfamiliar to most clinicians. Whether the activity is due to conduction along nerve fibers or muscle fibers crossing the midline is discussed.

Reanimation of the paralyzed face by indirect hypoglossal-facial nerve anastomosis.

BACKGROUND: The results of indirect hypoglossal facial nerve anastomosis with interposition of a free nerve graft, end-to-end to the periferal facial nerve stump, and end-to-side to the hypoglossal nerve are prospectively evaluated. This technique is supposed to overcome loss of hypoglossal function. METHODS: Tongue function in 39 consecutive patients and facial reanimation in 29 patients who completed 24 months follow-up were assessed. Facial nerve function was judged using the House-Brackmann (HB) grading system. RESULTS: Tongue movements were normal in all operated on patients. Initial facial movements occurred on average 7.5 months postoperatively. The results were graded HB II in 6 (20.9%), HB III in 13 (44.6%), HB IV in 7 (24.1%), HB V in 2 (6.8%) patients, and HB VI in 1 (3.4%) patient. The results were significantly better in young patients and when a short time interval between paralysis and surgery existed. CONCLUSIONS: Indirect hypoglossal-facial anastomosis is the preferred technique in most patients for whom the classical direct hypoglossofacial anastomosis is indicated.

[Successful reanimation of facial paralysis with an indirect anastomosis between hypoglossal nerve and facial nerve, without loss of function of the tongue]. / Goede behandeling van de aangezichtsverlamming met een indirecte anastomose tussen de N. hypoglossus en de N. facialis, zonder functieverlies van de tong.

OBJECTIVE: To describe the surgical procedure and the results of the indirect hypoglossal-facial nerve anastomosis using a free nerve graft in patients with facial nerve paralysis. This technique leaves the tongue function intact. DESIGN: Prospective study. METHODS: Tongue function was assessed in 39 consecutive patients who underwent this procedure and facial reanimation was assessed in 29 of these patients who had completed at least 24 months follow-up. Facial nerve function was judged using the House-Brackmann (HB) facial nerve grading system. RESULTS: Tongue movements were normal in all operated patients; one patient had mild homolateral atrophy. Initial facial movements occurred on average 7.5 months postoperatively (range 4 to 18 months) in all but one patient. The results were graded HB II in 6 patients (20.9%), HB III in 13 (44.6%), HB IV in 7 (24.1%), HB V in 2 (6.8%) and HB VI in 1 patient (3.4%). Hemifacial synkineses were noticeable but no mass movements or gross hypertonia were observed (as are often present in direct hypoglossal-facial anastomosis). The results of facial reanimation were significantly better in young patients and when a short time interval between paralysis and surgery existed. HB grade II was achieved only if the duration of paralysis was less than 12 months. CONCLUSION: Indirect hypoglossal-facial anastomosis with interposition of a nerve graft allows preservation of tongue function together with good overall facial reanimation, and is therefore to be preferred to the classical direct hypoglossal-facial anastomosis.

Effect of positive expiratory pressure mask physiotherapy (PEP) versus forced expiration technique (FET/PD) on regional lung clearance in chronic bronchitics.

On theoretical grounds it is assumed that positive expiratory pressure mask physiotherapy (PEP) as a means of promoting mucus clearance is especially effective in the more distal airways. In a randomized cross-over trial including a control measurement the effect of PEP and of the forced expiration technique combined with postural drainage (FET/PD) on regional lung clearance was evaluated in seven patients with chronic bronchitis and abundant sputum production (mean 32 g.day-1). PEP consisted of positive expiratory pressure mask breathing interspersed with breathing exercises, forced expiration manoeuvres (huffing) and, if necessary, coughing. FET consisted of breathing exercises, huffing and also, if necessary, coughing. FET was combined with PD. Following inhalation of a radio-aerosol regional lung clearance was estimated by means of gamma camera imaging. The results after PEP appeared to be not significantly different from control. The mean clearance in all three lung zones (peripheral, intermediate and inner) was largest after FET/PD as compared with PEP and control. Statistical significance (p less than 0.02) was reached only for clearance in the inner region. It is concluded that PEP has no demonstrable effect on regional lung clearance in these patients.

No effect of oral high frequency oscillation combined with forced expiration manoeuvres on tracheobronchial clearance in chronic bronchitis.

This study compared the effect of oral high frequency oscillation (OHFO) with the effect of the forced expiration technique (FET) on tracheobronchial clearance. Eight patients with chronic bronchitis were investigated (mean age 60 +/- 10 yrs, mean forced expiratory volume in one second (FEV1) 68 +/- 27% predicted, mean sputum production 33 +/- 9 g.day-1). OHFO was applied at the respiratory system resonant frequency of each patient (range 9.2-25 Hz) and combined with huffing. FET included breathing exercises, huffing and postural drainage. Duration of both OHFO and FET was 30 minutes. Tracheobronchial clearance was measured by means of a radio-aerosol technique. At 60 mins after start of the treatment mean tracheobronchial retention was 70 +/- 26% after OHFO, 54 +/- 26% after FET and 76 +/- 18% in the control run, which included huffing only. OHFO was not significantly different from control. FET was significantly different (p less than 0.02) from both OHFO and control. It is concluded that OHFO has no effect on tracheobronchial clearance in chronic bronchitis.

Conventional physiotherapy and forced expiration manoeuvres have similar effects on tracheobronchial clearance.

This study compared the effect of two forms of chest physiotherapy. In the "conventional" form of physiotherapy, postural drainage was combined with percussion and directed coughing. The other, relatively new form of physiotherapy, was the forced expiration technique, i.e. huffing combined with postural drainage, breathing exercises and, if necessary, coughing. Eight patients (six with cystic fibrosis, two with agammaglobulinaemia) took part in the study. No difference was found in tracheobronchial clearance, regional lung clearance, sputum production or lung function between the two forms of treatment. The forced expiration technique can be performed without an assistant. Therefore, it is concluded that in general the forced expiration technique is preferable.

The effect of positive expiratory pressure versus forced expiration technique on tracheobronchial clearance in chronic bronchitics.

In a randomized cross-over trial, including a control measurement the effect of positive expiratory pressure (PEP) and forced expiration technique (FET) on tracheobronchial clearance was evaluated in eight chronic bronchitics with abundant sputum production (mean, 32 g/day). PEP consisted of PEP-mask breathing interspersed with breathing exercises, huffing, and coughing. FET consisted of postural drainage, breathing exercises, huffing, and coughing. Clearance was measured with a radio-aerosol technique. At 40 min after the start of therapy the mean clearance, expressed as percentage of the amount of radioactivity present at the start of therapy, was 32% after PEP, 53% after FET, and 15% in the control run. The difference between PEP, FET, and control was statistically significant (p less than 0.02). Sputum production during PEP and FET was larger than during the equivalent period of time in the control run. It is concluded that FET is more effective than PEP in enhancing tracheobronchial clearance.