Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study.

OBJECTIVE: The aim of the study was to assess different outcome measures in a cohort of ambulant boys with Duchenne muscular dystrophy (DMD) over 12 months in order to establish the spectrum of possible changes in relation to age and steroid treatment. METHODS: The study is a longitudinal multicentric cohort study. A total of 106 ambulant patients with DMD were assessed using the 6-minute walk test (6MWT) and North Star Ambulatory Assessment (NSAA) at baseline and 12 months. Clinical data including age and steroid treatment were collected. RESULTS: During the 12 months of the study, we observed a mean decline of 25.8 meters in the 6MWT with a SD of 74.3 meters. On NSAA, the mean decline was 2.2 points with a SD of 3.7. Not all the boys with DMD in our cohort showed a decline over the 12 months, with young boys showing some improvement in their 6MWT and NSAA scores up to the age of 7. NSAA and the 6MWT had the highest correlation (r = 0.52, p < 0.001). CONCLUSIONS: This study provides longitudinal data of NSAA and 6MWT over a 12-month period. These data can be useful when designing a clinical trial.

Systolic anterior motion causing hemodynamic instability and pulmonary edema during bleeding.

Systolic anterior motion (SAM) of mitral valve is the prolapse of a mitral leaflet into the left ventricle outflow tract (LVOT) during systole, causing LVOT obstruction and mitral valve regurgitation. We report the case of a patient who developed SAM-induced hemodynamic instability during bleeding with a clinical picture resembling pulmonary edema. A 77-year-old woman was admitted to our emergency room for abdominal bleeding in polycystic renal disease. Upon arrival, she was normotensive, despite being anuric and acidotic. After infusion of fluids and packed red blood cells (total 3 680 mL in 6 hours) she developed atrial fibrillation and clinical and radiological signs of pulmonary edema. Sedation and non-invasive ventilation brought to immediate severe hypotension. A transesophageal echocardiogram showed an "empty" hypertrophic hypercontractile left ventricle, SAM with LVOT obstruction (intraventricular gradient 154 mmHg) and moderate-to-severe mitral regurgitation. With further fluid infusion hemodynamic stability and sinus rhythm were recovered. SAM, LVOT obstruction and mitral regurgitation disappeared. SAM is a rare but dangerous cause of hemodynamic instability. It has been described in patients with and without left ventricular hypertrophy, in presence of hypovolemia and sympathetic stimulation. In our case it presented with a misleading clinical picture of pulmonary edema simulating fluid overload in an actually hypovolemic patient. In fact, SAM-associated mitral regurgitation together with diastolic dysfunction and tachycardia induced a pulmonary edema whose treatment worsened hypovolemia and precipitated LVOT obstruction and hypotension. Further fluid infusion was resolutive. Echocardiography was fundamental for diagnosis and treatment.

Diurnal and nocturnal shifts do not influence non-invasive ventilation outcome.

AIM: The aim of this study was to assess if diurnal or nocturnal shifts were independent risk factors for non-invasive ventilation (NIV) failure. METHODS: This was an observational study carried out on 18 patients of the general Intensive Care Unit in Rome. A total number of 189 consecutive patients needing mechanical ventilation for respiratory failure were prospectively enrolled: 82 were treated with NIV as a first line intervention. Of the 107 patients who were initially intubated, 59 patients were extubated; once extubation failed they were treated with NIV. NIV failure was assessed during both the day (between 7 am and 10 pm) and night shifts (between 10 pm and 7 am). RESULTS: Of the 141 total patients who received NIV, 51 experienced failure during the day shifts and 18 during the night shifts. No difference in the median day and night shift TISS-28 values were observed in any patients who failed NIV during both day and night shifts. Causes of NIV failure were similar during both diurnal and nocturnal shifts. The inability to correct gas exchanges was the main reason for failure. CONCLUSION: In a center with NIV expertise, notwithstanding nurse understaffing, diurnal and nocturnal shifts did not affect the rate of NIV failure.

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

The aim of this study was to investigate the suitability of the North Star Ambulatory Assessment as a possible outcome measure in multicentric clinical trials. More specifically we wished to investigate the level of training needed for achieving a good interobserver reliability in a multicentric setting. The scale was specifically designed for ambulant children with Duchenne Muscular Dystrophy and includes 17 items that are relevant for this cohort. Thirteen Italian centers participated in the study. In the first phase of the study we provided two training videos and an example of the scale performed on a child. After the first session of training, all the 13 examiners were asked to send a video with an assessment performed in their centre and to score all the videos collected. There were no difficulties in performing the items and in obtaining adequate videos with a hand held camera but the results showed a poor interobserver reliability (<.5). After a second training session with review and discussion of the videos previously scored, the same examiners were asked to score three new videos. The results of this session had an excellent interobserver reliability (.995). The level of agreement was maintained even when the same videos were rescored after a month, showing a significant intra-observer reliability (.95). Our results suggest that the NSAA is a test that can be easily performed, completed in 10 min and can be used in a multicentric setting, providing that adequate training is administered.

Good neurological recovery after cardiopulmonary resuscitation and thrombolysis in two old patients with pulmonary embolism.

The use of thrombolysis as an emergency treatment for cardiac arrest (CA) due to massive pulmonary embolism (MPE) has been described. However, there are no reports of successful treatment of MPE-associated CA in patients over 77 years of age. We report two cases of successful cardiopulmonary resuscitation for an MPE-associated CA in two very old women (87 and 86 years of age). In both cases, typical signs of MPE were documented using emergency echocardiography, which showed an acute right ventricle enlargement and a paradoxical movement of the interventricular septum. Emergency thrombolysis was administered during resuscitation, which lasted 45 and 21 min, respectively. Despite old age and prolonged resuscitation efforts, both patients had good neurological recovery and one of them was alive and neurologically intact 1 year later. Thrombolysis is a potentially useful therapy in MPE-associated CA. A good neurological outcome can be obtained even in very old patients and after prolonged resuscitation.

The 2005 European Guidelines for cardiopulmonary resuscitation: major changes and rationale.

During the 2005 International Consensus Conference on Cardiopulmonary Resuscitation (CPR) and Emergency Cardiovascular Care Science, a rigorous evidence-based evaluation process was conducted. The consensus reached during that Conference constituted the basis of the current CPR guidelines of the European Resuscitation Council (ERC), published in December 2005. Those guidelines included many important changes, made on the basis of emerging evidence. For example, the compression-ventilation ratio for CPR in non-intubated patients was increased from 15:2 to 30:2 and a strong recommendation to minimize interruptions in chest compression was issued in order to maximise organ perfusion. Energy levels for monophasic defibrillation were increased and specific energy levels for biphasic defibrillation have been recommended, in order to maximise the efficacy of the first shock. New timing of defibrillation shocks is now advised: the three-stacked shock sequence has been replaced by high-energy single shocks followed by two-minute cycles of CPR, in order to reduce CPR interruptions. Timing for administration of drugs has been adapted to the new shock sequence and the advanced life support (ALS) universal algorithm has been modified. Some controversial topics are still a matter of investigation and debate, including the use of therapeutic hypothermia in non-shockable cardiac arrests, the efficacy of a period of CPR before defibrillation in long-lasting cardiac arrests, and the chest-compression-only CPR for first responders of out-of-hospital cardiac arrests.

Functional hemodynamic monitoring and dynamic indices of fluid responsiveness.

Knowing whether or not a fluid infusion can improve cardiac output (fluid responsiveness) is crucial when treating hemodynamically unstable patients. Generally, cardiac filling pressures (central venous pressure, pulmonary artery occlusion [''wedge''] pressure) and volumes (end-diastolic left and right ventricular volume) are used, although they are not reliable predictors of fluid responsiveness. For this reason, new indices, the so-called dynamic indices of fluid responsiveness, have been recently introduced in clinical use. If stroke volume, or stroke volume-derived parameters (pulse pressure and aortic flow) show wide variation during mechanical ventilation, a good response to fluid therapy can be predicted. As these indices are based upon the effects of controlled mechanical ventilation on stroke volume, they can be used in deeply sedated or apneic patients whose cardiac rhythm is regular. To overcome these limitations, new dynamic indices have been introduced. Among them, variation of cardiac output induced by passive leg raising (PLR) has raised particular interest since it can identify fluid responders even among spontaneously breathing and non-sinus rhythm patients. Although promising, the dynamic indices of fluid responsiveness have been studied only retrospectively in a relatively small number of patients and evidence that clinical use of these indices can improve outcome is still limited. Further investigations are needed to confirm their clinical validity.

Imagery of different sensory modalities: hypnotizability and body sway.

Postural control in subjects with high (Highs) and low (Lows) susceptibility to hypnosis is differentially affected by changes in visual and neck tactile/proprioceptive input. The aim of the present experiment was to investigate whether imagery of the visual and tactile sensory modalities also induces different modulation of postural control in Highs and Lows. Fourteen Highs and 16 Lows were included in the study; they were recorded while standing upright with eyes closed during visual and tactile imagery tasks and during mental computation. Their posture and movement were recorded with an Elite System and their experience was assessed after each task in a structured interview. Visual imagery was judged "easier" than tactile imagery by Lows, while Highs performed both tasks easily and judged the tactile imagery less effortful and more vivid than Lows. No difference was observed for the mental computation. The Highs' body sway was not affected by the cognitive tasks, while Lows showed a task-related modulation of body sway. The results are in line with the hypothesis of lower vulnerability of Highs to the effects of tasks interfering with postural control and of different sensory-motor integration in Highs and Lows.

Enoximone in cardiac arrest caused by propranolol: two case reports.

We report two clinical cases of cardiac arrest, the former due to an adverse effect of intravenous (i.v.) propranolol in a patient with systemic sclerosis, the latter from a propranolol suicidal overdose. In both cases, conventional advanced life support (ALS) was ineffective but both patients eventually responded to the administration of enoximone, a phosphodiesterase III (PDE III) inhibitor. After the arrest, both patients regained consciousness and were discharged home. The chronotropic and inotropic effects of PDE III inhibitors are due to inhibition of intracellular PDEIII and are therefore unaffected by beta-blockers. These cases suggest that PDEIII inhibitors may be useful in restoring spontaneous circulation in cardiac arrest associated with beta-blocker administration when standard ALS is ineffective.

Successful treatment with enoximone for severe poisoning with atenolol and verapamil: a case report.

Combined poisoning with calcium channel blockers (CCBs) and beta-blockers is usually associated with severe hypotension and heart failure. Due to the block of the beta receptors, treatment with adrenergic agonists, even at high doses, can be insufficient, and beta-independent inotropes, such as glucagon, may be required. Phosphodiesterase III (PDEIII) inhibitors represent a possible alternative to glucagon in these cases as they have an inotropic effect which is not mediated by a beta receptor.

[An unusual case of orbital cellulitis and perforating scleromalacia]. / Cas insolite de cellulite orbitaire et scléromalacie perforante.

We report the case of a diabetic patient with refractory anemia with excess blasts (RAEB) who developed bladder infection followed by orbital cellulitis and nodular skin lesions. After a short remission, the clinical aspect was complicated by corneal ulceration, scleromalacia, bulbar perforation and lens luxation.