An obese 86 year old female is bought to ED by private car with a 5-6 day history of progressive dyspnoea and fevers. Whilst we commence fluid resuscitation, IV antibiotics & early goal-directed therapy, we decide to trial non-invasive ventilation as a temporizing measure.
Her pathology [?pneumonia ??ARDS] is not easily reversible & will take time to resolve. Essentially, we make a conscious decision to commit to a delayed sequence intubation …. For my mate Alex & I, it served as a brilliant display of the powerful influence that online learning, podcasts and FOAM can have on our everyday practice.
Click the blog post title to navigate to the original article and blog; Click the author name or blog name in the credits to navigate to all archived posts on FOAMEM. This site showcases the best of global FOAM and gives the reader an opportunity to read, find and locate new sources of high quality medical education. ABSTRACT:Spinal Muscular Atrophy (SMA) refers to a disorder characterized by muscular atrophy secondary to degeneration of the spinal motor neurons. The term spinal muscular atrophy (SMA) implies a condition involving muscle atrophy secondary to the damage of the spinal motoneuron. Classification encounters numerous difficulties, as spinal muscular atrophy is a clinically variable and genetically heterogeneous disorder. Classic types I, II, III of proximal recessive SMAs in children are defined in terms of age of onset and severity of symptoms and will be detailed below. Attempts to achieve a single classification based on age of onset, pattern of transmission and the distribution of the muscular deficit has led to overlapping.
Given the new clinical studies and case reports, another type of SMA has been proposed – antenatal SMA type or form.
In 1960s, in an effort to evaluate the prognosis, Byers and Banker classified SMAs into categories based on the severity of symptoms and on the onset age. Taking into consideration that laboratory examinations are the same for all types while the clinical aspects are different, I will start with the describtion of different types of SMAs in terms of clinical manifestations, and I will describe the laboratory examinations later. A hypotonic newborn patient was described in specialist literature with multiple joint contractures, multiple fractures and respiratory failure, which had homozygous deletion of SMN1 gene and one single copy of SMN2. It is a disease with onset before the age of 6 months (under the age of 3 months), by decreasing motility at the proximal level of the limbs, much stronger at the level of the lower limbs.
Osteo-tendon reflexes are abolished early in the disease, helping to differentiate from other causes of central hypotonic syndrome. Swallowing disorders occur quite late, there are no sphincter or sensitivity disturbances (15). Cognitive functions are normal and are certified by the lively look and the normal mental acquisitions.
Pseudohipertrofia of the gastrocnemius muscle may occur, together with skeletal deformities and respiratory insufficiency. The initial period of installation of the deficit, that usually extends over a period of 6-8 weeks, is followed by period in which the clinical picture remains stable, even allowing for the resumption of acquisitions (sitting position at 2-4 years, walking a fewstweps alone at 5 years old). Patients with SMA type III are characterized by slowly progressive proximal muscular deficit. At clinical examination, patients present muscle deficit at the level of pelvic girdle, much more severe than at the scapular belt level, with positive Gowers and waddle. OTR are reduced (the Achillian ones may be present until later in the course of the disease). Pseudohypertrophy of the calf muscles may be present, but most obvious are the atrophies of the affected muscles. Several studies have shown that scoliosis is a major problem in half of patients with SMA type III. Lung diseases are a major cause of morbidity and mortality in patients with SMA type I and II but in a low proportion of patients with SMA type III (14). The electromyographic characteristics of the disease show features of denervation and decreased motor action potential.
Muscle biopsy may be necessary to distinguish spinal muscular atrophies from other neuromuscular diseases where genetic testing is not relevant.
Legend: Motor commands generated in the cerebral cortex are transmitted to the alpha motor neurons of the spinal cord.
Undoubtedly, there are clear examples of borderline patients who are at the boundary of different types.
In SMA type II, affected patients acquire the ability to sit without support but they are never able to stand and therefore have a severe disability. Life span ranges from 2 years to the 3rd decade of life, death is the result of respiratory infections in most cases. In a large number of clinical series of SMA type III, SMA is defined by unassisted walking as maximum acquisition, although ambulation is then lost in many patients. Korinthenberg R, Sauer M, Ketelsen UP, Hanemann CO, Stoll G, Graf M, Baborie A, Volk B, Wirth B, Rudnik- Schoneborn S, Zerres K. Meeting Report, International Sma Consortium Meeting, 26-28 June, Bonn, Germany Neuromusc Disord.Vol. Zerres K, Rudnik-Schoneborn S, Forrest E, Lusakowska A, Borkowska J, Hausmanowa-Petrusewicz I.
A study of patients with type II respiratory failure put on non-invasive positive pressure ventilation. However, the use of artificial airways may lead to infectious complications and injury to the airways. Complications and consequences of endotracheal intubation and tracheotomy: A prospective study of 150 critically ill adult patients. Reversal of acute exacerbations of chronic obstructive lung disease by inspiratory assistance with a face mask. Noninvasive face mask mechanical ventilation in patients with acute hypercapnic respiratory failure. Non-invasive modalities of positive pressure ventilation improve the outcome of acute exacerbations in COLD patients.
Randomised controlled trial of nasal ventilation in acute ventilatory failure due to chronic obstructive airways disease. Early use of non-invasive ventilation for acute exacerbations of chronic obstructive pulmonary disease on general respiratory wards: A multicentre randomised controlled trial. An evaluation of the role of noninvasive positive pressure ventilation in the management of acute respiratory failure in a developing country.
Does noninvasive positive pressure ventilation improve outcome in acute hypoxemic respiratory failure? Non-invasive positive pressure ventilation for treatment of respiratory failure due to exacerbations of chronic obstructive pulmonary disease. Efficacy of noninvasive pressure ventilation for the management of COPD with acute or acute on chronic respiratory failure: A randomized controlled trial. Outcome predictors for non-invasive positive pressure ventilation in acute respiratory failure. Ventilatory and hemodynamic effects of continuous positive airway pressure in left heart failure. Non-invasive ventilation in acute exacerbations of chronic obstructive pulmonary disease: Long term survival and predictors of in-hospital outcome. Effect of non-invasive positive pressure ventilation (NIPPV) on mortality in patients with acute cardiogenic pulmonary oedema: A meta-analysis. She is promptly rushed into the resus bay in extremis with cyanosis & poor respiratory effort.
Neither of us had had formal teaching on such a scenario, but the application of various lessons (EGDT, DSI, apnoeic oxygenation) served us well on the night & truly made a difference to this patients outcome !!
Taken in this sense, it includes a large number of heterogeneous clinical syndromes, most of them, but not all, being transmitted genetically.
Although substantial progress has been made in research on recessive SMAs localized on chromosome 5 (5q SMA), there are currently very limited data available in relation to non-5q entities in terms of molecular diagnosis and phenotype frequencies. These are caused by deletions or mutations in the SMN (survival motor neuron) gene in the SMA 5q region. Today we may speak of the following clinical types of SMAs that have mutations on chromosome 5 (see Table 2) (17). A number of population studies suggest that, in Réunion Island and in Karaite community in Israel, they can be isolated genetically and that SMA may have a different genetic basis in black people from South Africa (18). The two scientists have carried out biopsies on their patients and found severe atrophy of the earlier roots of the spinal cord. Their system became the basis for the most recognized classification system currently used for classifying the SMA (14). Antenatal onset may lead to the existence of joint retractions (equine foot, elbow bent, fingers and knees without a real change in the axis, usually reducible by mobilizing physiotherapy); they have nothing to do with arthrogryposis appearing in other neonatal neuropathies. These cases show that the presence of atypical symptoms in the neonatal period should not preclude a form of SMA 5q (6).
The deficit becomes generalized in a few weeks, thus there is a symmetric flaccid quadriparesis, too.
The paralysis of intercostals muscles is common and constant, the baby breathes only with the diaphragm, which causes a paradoxical depression in the chest during inspiration while the belly expands (paradoxical breathing).
Although the decreased muscle tone may be present since birth or since the first months of life, patients with SMA type II may develop motor acquisitions slowly. The rotulian osteo-tendon reflexes (OTR) are always abolished, the Achillean and upper limb OTRs can be preserved, but they disappear afterwards. Patients often complain of symptoms associated with muscular deficit of the extensor and abductor muscles of the thigh and describe the difficulties when climbing the stairs or standing up from a sitting position. Fasciculations may be present on the tongue level or at the level of the scapular girdle muscles (especially after muscle strength testing). However, this is less common in patients with SMA type III than in those with type II and it is not so severe.
Patients often report daytime fatigue that can result from sleep apnea or nocturnal hypoventilation, which can be solved by using continuous non-invasive nocturnal ventilation.
Spontaneous activity of the positive sharp wave type, of fibrillation and occasionally fasciculation, occurs most frequently in SMA type I and occasionally in SMA type II, but not in SMA type III. The selection of the muscle for biopsy should be based upon clinically affected muscles but their degeneration should not be so advanced as to make interpretation irrelevant. The region of the anterior motor horn shows the absence of motor neurons in a patient (B) when compared to a healthy subject (A).
In children with SMA type I, mothers occasionally describe a sudden interruption of foetal movements in the third quarter, which may suggest that in severe cases the process of motoneuron loss can begin in utero. Patients with SMA type III who have never climbed stairs without support lose their ability to walk in the middle of adolescence. In this article we have detailed the proximal recessive SMAs caused by mutations on chromosome 5 (5q SMA), at the level of SMN gene.
Attempts to provide a unique classification based on age of onset, pattern of transmission and distribution of muscular deficit has led to overlapping.
Natural history in proximal spinal muscular atrophy—clinical analysis of 445 patients and suggestions for a modification of existing classifications. A collaborative study on the natural history of childhood and juvenile onset proximal spinal muscular atrophy (type II and III SMA): 569 patients. Given the recent progress in molecular medicine, the term spinal muscular atrophy or spinal amyotrophy came to have two separate meanings: one for a specific monogenic disease and another as the descriptive term for a group of alleged genetic diseases of the motor neuron. They also found histological signs suggestive of motoneuron loss in the previous horn cells of this region. Some patients may describe a light and occasional tremor, painful muscle cramps, difficulty inwalking or running.
Skeletal muscle of a patient shows hypertrophic fibers surrounded by atrophic fibres in a patient with SMA (D) compared with healthy fibers with uniform morphology (C). Most cases of classic Werdnig Hoffmann disease become manifest in the first six months of life as severe muscle deficit requiring intubation at birth or the patients do not acquire head control. As a precise term, spinal muscular atrophy (SMA) is used for diseases caused by mutations in the SMN gene (on chromosome 5). On the other hand, various SMA entities of can be defined as having atypical features that are not caused by mutations on chromosome 5q. Usually patients have respiratory insufficiency and sucking deficiency and swallowing disorders cause the necessity of gavage. Parents of the younger patients tell about a delay in motor acquisitions or about decreased sports skills of their children.
Histopathologically, the spinal cord shows a severe loss of motor neurons in the anterior horn region (see Figure 3).
Despite the atrophy of muscle fibers in the SMA, muscle spindles are not affected and they become more evident (D). Patients with normal motor acquisitions of walking before the emergence of the deficit can keep walking until 3rd or 4th decade of life. Shaheen Egyptian Journal of Chest Diseases and Tuberculosis.
Mostafa Egyptian Journal of Chest Diseases and Tuberculosis.
As a generic term, it applies to quite diverse affections, some of them better, others less well characterized, where the degeneration of motor neurons of the spinal cord and of the brainstem is the predominant feature (3).
Thus, areas of interest are currently focused on the discovery of other genes responsible for the degeneration of the anterior horn cells. New babies who are hypotone both in utero and at birth may have difficulties adapting to life outside the womb and have postnatal asphyxia and encephalopathy. Of those who meet this criterion, most die from respiratory failure in the first two years of life. Based on the clinical description of the transmission pattern, some authors have developed a classification that includes clinically recognised syndromes with several known genetic mutations. When NVC is slightly lower, it may accompany a severe axonal motor loss due to motor fibres that are fast conductors (15). Although there are cases that have a prolonged survival with invasive ventilatory support, non-inva sive measures such as intermittent ventilation with positive pressure did not improve the unfavourable evolution of these patients (21). If such treatments could be successful in reducing the requirements of invasive mechanical ventilation (IMV) in patients with respiratory failure, it could have a potentially favorable impact on the allocation of the sparse health resources to other reversible causes of respiratory failure.Three recent publications from India suggested that non-invasive positive pressure ventilation (NIPPV) was beneficial in cohorts of patients presenting with chronic obstructive pulmonary disease (COPD) as well as respiratory failure of varied etiology.
However, there is a large number of syndromes with uncertain nosology that have not been included (18) (Table 1). The initial expiratory positive airway pressure (EPAP) was set at 4 cm H 2 O and was not altered unless clinically indicated. Bronchodilators and corticosteroids as nebulisers and antibiotic agents were given where clinically indicated.Previous studies have suggested that clinical and oximetric improvements at 1 hour portend a favorable response. During the weaning phase, the IPAP was decreased in gradations of 2-3 cm until the IPAP was 7-10 cm.
The ventilator serves as the energy source for inspiration, replacing the muscles of the diaphragm and chest wall. Expiration is passive, driven by the recoil of the lungs and chest wall; at the completion of inspiration, internal ventilator circuitry vents the airway to atmospheric pressure or a specified level of positive end expiratory pressure (PEEP).
Clinical conditions associated with hypercarbic respiratory failure include neuromuscular diseases, such as myasthenia gravis, ascending polyradiculopathy, and myopathies, and diseases that cause respiratory muscle fatigue due to increased workload, such as asthma, chronic obstructive pulmonary disease, and restrictive lung disease. The positive nature of the pressure causes the gas to flow into the lungs until the ventilator breath is terminated. As the airway pressure drops to zero, elastic recoil of the chest accomplishes passive exhalation by pushing the tidal volume out.
The physiological effects of CPAP include augmentation of cardiac output and oxygen delivery, improved functional residual capacity, respiratory mechanics, reduced effort in breathing,  and decreased left ventricular afterload. It can be double-barreled or single-barreled with an expiratory valve.Interface (nasal or full face mask, nasal pillows, or less commonly a lip-seal mouthpiece) provides the connection to the user's airway. The interfaces can be removed intermittently to permit patient's meals and medications Flexible chin straps help in maintaining a closed pressure system, velcro-type adjustments allow quick sizing. Care and maintenance Proper maintenance is essential for proper functioning, long unit life, and patient comfort. A relatively small number of patients, 10% and 6% respectively, also had fever and chest pain on presentation, which was clinically diagnosed as pneumonia.
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