Metabolic assessment in children with neuromuscular disorders shows risk of liver enlargement, steatosis and fibrosis.

AIM: The aim of this study was to conduct a metabolic and nutritional assessment of children with neuromuscular disorders, including the investigation of the liver and bone mineral density. METHODS: In this observational study, we included 44 children with neuromuscular disorders. The nutritional status, bone health and liver were assessed by ultrasound, transient elastography, dual X-ray absorptiometry scan, blood samples, anthropometric measurements and 3-day diet registration. RESULTS: Liver involvement was found in 31.0%: liver enlargement in 7.1%, steatosis in 4.8%, fibrosis in 14.3% and liver enlargement together with steatosis or fibrosis was found in 4.8%. These changes were found in 9/23 patients with Duchenne muscular dystrophy, 4/9 patients with spinal muscular atrophy type II and 0/12 patients with other neuromuscular diagnoses. Low bone mineral density was found in 44.0% of the patients, though the majority used daily vitamin D and calcium supplements. Vitamin D insufficiency or deficiency was found in 22.6%. CONCLUSION: The metabolic assessment in children with neuromuscular disorders shows an increased risk of liver enlargement, steatosis and fibrosis. Possible causes are obesity, decreased mobility, low skeletal muscle mass and for a subgroup the use of glucocorticoids. The findings suggest that monitoring liver function should be part of the nutritional assessment in patients with neuromuscular disorders.

Intermittent Abdominal Pressure Ventilation: An Alternative for Respiratory Support.

Intermittent abdominal pressure ventilation is a positive pressure ventilation technique that works with abdominal compressions. It has been known since 1938; however, for many years, it was out of production. In recent years, a new device has been produced that has captured the attention to this old respiratory support technique. We considered eight patients with respiratory failure secondary to a neuromuscular disease (congenital myopathy, Duchenne dystrophy, and amyotrophic lateral sclerosis) intolerant to daytime noninvasive ventilation (NIV). IAPV was proposed as an alternative to NIV. We performed baseline and post-IAPV respiratory function assessment. All patients, two years later, are still using intermittent abdominal ventilation. Intermittent positive abdominal mechanical ventilation can be a valid alternative to noninvasive mechanical ventilation with a nasal or face mask. It improves gas exchange, symptoms, and quality of life, decreases the incidence of pneumonia, and can avert the need for intubation and tracheotomy.

Growth and nutrition in pediatric neuromuscular disorders.

BACKGROUND & AIMS: Little is currently known about the nutrition and growth outcomes in children with neuromuscular disorders (NMDs), and these are likely disease dependent. The aim of this study was to describe the range of nutritional issues in pediatric NMDs and identify similarities and differences in growth outcomes and nutritional needs in children with a variety of NMDs at different ages, with the goal of informing future services. METHODS: In this cross-sectional study we collected data on growth, dietetic interventions and nutrition-related issues in 160 children who attended a multidisciplinary clinic in a tertiary children's hospital, from February to December 2019. Children with significant weakness affecting mobility before the age of 3 years were clinically grouped into 'early-onset NMDs'. RESULTS: Across our clinic, 42.5% children had a history of chronic gastrointestinal issues, and 34.4% received dietetic care on the day of clinical visit. Children with early-onset NMDs had significantly higher prevalence of swallowing issues, gastroesophageal reflux, and vomiting, as well as higher frequency of dietetic consultations, high energy diet, swallowing assessment and tube-feeding, compared to later-onset NMDs (p < 0.05). In total, 49.2% children with NMDs had an abnormal weight, in which the prevalence of underweight (n = 24, 19.2%) was significantly higher compared to normal Australian children (8.2%) (p < 0.05). In Duchenne muscular dystrophy, over 50% children were overweight/obese. CONCLUSION: Among children with NMDs, there were many disease-specific nutrition-related symptoms, growth issues, and dietetic practices that were tailored to individual needs. Future studies should focus on measuring the impact of specific dietetic practices on growth and nutritional outcomes, as well as developing a precision medicine approach tailored to the individual nutritional needs of children with NMDs.

Taste disorder in facial onset sensory and motor neuronopathy: a case report.

BACKGROUND: Taste disorder is a common symptom in the general population. Several studies have shown that patients with neurological disorders, such as amyotrophic lateral sclerosis and Parkinson's disease, develop taste disturbance. Facial onset sensory and motor neuronopathy (FOSMN) is a rare disease characterized by sensory disturbance and weakness spreading from the face to the limbs caudally. We describe a patient with FOSMN who showed taste disorder as the sole initial symptom. CASE PRESENTATION: A 49-year-old man who smoked cigarettes developed taste disturbance. Despite using zinc supplements, an herbal medication, and an ointment, his taste disorder worsened. 4 years later, a tingling feeling emerged at the tip of his tongue and gradually spread to his entire lips. At 55 years of age, he showed difficulty in swallowing, followed by facial paresthesia, muscle atrophy, and weakness in the face and upper limbs without apparent upper motor neuron sign. Cessation of smoking did not improve his taste disturbance, and he was unable to discriminate different tastes on the entire tongue. In an electrogustometric study, electrical stimulation did not induce any type of taste sensation. Blink reflex showed delayed or diminished R2 responses. Needle electromyography revealed severe chronic neurogenic changes in the tongue and masseter muscles. Mild chronic neurogenic changes were also observed in the limbs. In the thoracic paraspinal muscles, active neurogenic changes were detected. Findings of hematological and cerebrospinal fluid analyses, and magnetic resonance images of the brain and spinal cord were unremarkable. One cycle of intravenous immunoglobulin therapy did not improve his symptoms. We diagnosed him as having FOSMN with the sole initial symptom of taste disorder. Nine years after the onset of taste disorder, he developed impaired sensation of touch in the right upper limb and required tube feeding and ventilator support. CONCLUSION: Taste disorder can be the initial manifestation of FOSMN and might involve the solitary nucleus.

Soporte ventilatorio no invasivo en insuficiencia ventilatoria aguda severa en adolescentes con enfermedad neuromuscular y obesidad: estudio de casos / Non-invasive ventilatory support in severe acute ventilatory failure in adolescents with neuromuscular disease and obesity: study of cases

Noninvasive ventilatory support (NIVS) combined with mechanical cough assist (MI-E) is an effective tool to treat patients with acute ventilatory failure due to neuromuscular disorders (NMD). Airway respiratory infection could be lethal or with risk of endotraqueal intubation, especially when vital capacity (VC) is less than 15 ml/k. We report 2 obese adolescents, aged 11 and 14 years old, with myasthenic crisis (MC) and Duchenne muscular dystrophy (DMD). The last one with a severe cifoescoliosis treated with nocturnal noninvasive ventilation at home. MC girl has been treated with pyridostigmine, prednisolone and mycophenolate. They were admitted for thymectomy and spinal surgery arthrodesis respectively. After admission they developed airway respiratory infection triggering by Methaneumovirus and were treated with oxygen therapy, non-invasive ventilation with low-pressure support and EV immunoglobulin for the MC girl. After 48 h both patients developed severe respiratory failure, Sa/FiO2 < 200, atelectasis of lower lobes and difficulty to swallow, a peak cough flow (PFT)

El soporte ventilatorio no invasivo (SVNI) y la rehabilitación respiratoria con apilamiento de aire más tos asistida manual o mecánica, son efectivas para tratar la insuficiencia ventilatoria aguda en pacientes con enfermedades neuromusculares (ENM) y deterioro progresivo de la bomba respiratoria. Las agudizaciones gatilladas por infecciones respiratorias causan insuficiencia ventilatoria aguda potencialmente mortal y con alto riesgo de intubación, en especial cuando la capacidad vital (CV) es < de 15ml/k. Se reportan 2 adolescentes obesos con ENM de 11 y 14 años con miastenia gravis y distrofia muscular de Duchenne (DMD) con asistencia ventilatoria no invasiva nocturna con baja presión de soporte (AVNI), ingresados para timectomía y artrodesis de columna respectivamente. Una vez ingresados evolucionan con insuficiencia ventilatoria aguda secundaria a una infección respiratoria por Metaneumovirus. Inicialmente fueron manejados con oxigenoterapia, AVNI y gamaglobulina endovenosa en el caso de la paciente con crisis miasténica (CM). A las 48h presentan dificultad respiratoria severa, Sa/FiO2 < 200, atelectasias bibasales y disfagia, CV de 800ml (11ml/k) en el paciente con CM y de 200 ml (2,5ml/k) en el paciente con DMD y un pico flujo tosido (PFT) < 100 l/m. Se cambia a SVNI con equipo Trilogy® y BipapA40®, en modalidad S/T (espontáneo/tiempo) y AVAPS (volumen promedio asegurado en presión de soporte) con altos parámetros ventilatorios; suspendiendo rápidamente la oxigenoterapia, al combinar tos mecánicamente asistida con in-exsufflator (MI-E) en forma intensiva. Ambos pacientes presentan mejoría clínica sostenida, de la CV, PFT y pico flujo exuflado máximo con MI-E (PFE-MI-E). El SVNI más la aplicación sistemática del MI-E hasta lograr SaO2 de al menos 95% con oxígeno ambiental evita la intubación endotraqueal en ENM, a diferencia del agravamiento producido por AVNI y oxigenoterapia con criterios clásicos.

Health and Economic Outcomes of Posterior Spinal Fusion for Children With Neuromuscular Scoliosis.

OBJECTIVES: Neuromuscular scoliosis (NMS) can result in severe disability. Nonoperative management minimally slows scoliosis progression, but operative management with posterior spinal fusion (PSF) carries high risks of morbidity and mortality. In this study, we compare health and economic outcomes of PSF to nonoperative management for children with NMS to identify opportunities to improve care. METHODS: We performed a cost-effectiveness analysis. Our decision analytic model included patients aged 5 to 20 years with NMS and a Cobb angle ≥50°, with a base case of 15-year-old patients. We estimated costs, life expectancy, quality-adjusted life-years (QALYs), and incremental cost-effectiveness from published literature and conducted sensitivity analyses on all model inputs. RESULTS: We estimated that PSF resulted in modestly decreased discounted life expectancy (10.8 years) but longer quality-adjusted life expectancy (4.84 QALYs) than nonoperative management (11.2 years; 3.21 QALYs). PSF costs $75 400 per patient. Under base-case assumptions, PSF costs $50 100 per QALY gained. Our findings were sensitive to quality of life (QoL) and life expectancy, with PSF favored if it significantly increased QoL. CONCLUSIONS: In patients with NMS, whether PSF is cost-effective depends strongly on the degree to which QoL improved, with larger improvements when NMS is the primary cause of debility, but limited data on QoL and life expectancy preclude a definitive assessment. Improved patient-centered outcome assessments are essential to understanding the effectiveness of NMS treatment alternatives. Because the degree to which PSF influences QoL substantially impacts health outcomes and varies by patient, clinicians should consider shared decision-making during PSF-related consultations.

Pediatric pulmonary rehabilitation program at a Chilean public hospital. / Programa de rehabilitación respiratoria infantil en un hospital público de Chile.

INTRODUCTION: Pediatric pulmonary rehabilitation is relevant in the management of chronic respiratory diseases. In Chile, it is provided only at certain hospitals. Objective. To describe the outcomes of a pediatric pulmonary rehabilitation program after 3 months of rehabilitation. METHODOLOGY: Retrospective study of patients with chronic lung disease, neuromuscular disease, and other chronic conditions admitted to the program between June 2011 and June 2017. Assessments included general physical and respiratory muscle examination, and spirometry. General physical training and respiratory muscle training were planned according to facilitybased, mixed and home protocols. RESULTS: A total of 156 patients (11.45 ± 3.55 years old) were included, 68 had chronic lung disease (11.56 ± 4.6 years old, 43.5 %); 45, neuromuscular disease (11.4 ± 3.7 years old, 28.8 %); and 43, various chronic conditions (11.31 ± 3.9 years old). Out of all patients, 102 (65.4 %) followed training protocols; targeted (n = 27), mixed (n = 23), and home (n = 50); compliance was 69 %, 87.5 %, and 70 %, respectively. Peak inspiratory pressure increased by 19.3 % (p = 0.001); peak expiratory pressure, 14.5 % (p = 0.001); forced vital capacity, 12.9 % (p = 0.001); forced expiratory volume in 1 second, 11.6 % (p = 0.004); and the six-minute walk test, 17.6 meters (p = 0.036) after 3 months of rehabilitation. CONCLUSIONS: The intervention protocol improved cardiorespiratory functional capacity. Compliance was over 65 %.

Introducción. La rehabilitación respiratoria infantil es relevante en el manejo de enfermedades respiratorias crónicas. En Chile, se desarrolla solo en algunos hospitales. Objetivo. Describir los resultados de un programa de rehabilitación respiratoria infantil tras 3 meses de rehabilitación. Metodología. Estudio retrospectivo de los pacientes con enfermedad pulmonar crónica, enfermedad neuromuscular y otras patologías crónicas admitidos desde junio de 2011 a junio de 2017. Se realizó evaluación física general, evaluación de musculatura respiratoria y espirometría. Se planificó entrenamiento físico general y entrenamiento muscular respiratorio, con protocolos institucional, mixto y domiciliario. Resultados. Ingresaron al programa 156 pacientes (11,45 ± 3,55 años), 68 con enfermedad pulmonar crónica (11,56 ± 4,6 años, el 43,5 %), 45 con enfermedad neuromuscular (11,4 ± 3,7 años, el 28,8 %) y 43 con patologías crónicas diversas (11,31 ± 3,9 años). Del total, se entrenaron 102 (el 65,4 %); dirigido (n = 27), mixto (n = 23) y domiciliario (n = 50) con adherencia del 69 %, del 87,5 % y del 70 %, respectivamente. Aumentó el 19,3 % la presión inspiratoria máxima (p = 0,001), el 14,5 % la presión espiratoria máxima (p = 0,001), el 12,9 % la capacidad vital forzada (p = 0,001), el 11,6 % el volumen espiratorio forzado al primer segundo (p = 0,004) y 17,6 metros en el test de marcha de 6 minutos (p = 0,036) tras 3 meses de rehabilitación. Conclusiones. El protocolo de intervención incrementó el estatus funcional cardiorrespiratorio. La adherencia fue superior al 65 %.

Early use of an implantable diaphragm pacing stimulator for a child with severe acute flaccid myelitis-a case report.

Introduction: Acute Flaccid Myelitis (AFM) is a recently recognized, polio-like illness of children that can be functionally devastating. Severe cases can lead to ventilatory failure. Incomplete phrenic nerve injuries in other populations has been shown to respond to diaphragmatic stimulation. We therefore proposed an early assessment for incomplete denervation by laparoscopic direct stimulation of the diaphragm and placement of a diaphragmatic pacing system to enhance diaphragm function. Case presentation: A 3 year-old girl presented with AFM with clinically and electrodiagnostically severe involvement of all four limbs and muscles of respiration. Direct stimulation of the diaphragm demonstrated contraction and a diaphragmatic stimulator was placed at 3 weeks post presentation. The patient was immediately able to tolerate short bouts of reduced ventilation settings. Electromyography via the pacing wires demonstrated intact motor units consistent with partial denervation/reinnervation in the left hemidiaphragm, and no motor units in the right hemidiaphragm. At three months, she tolerated 6 h of pacing on pressure support setting. At 5 months she demonstrated larger tidal volumes with active pacing than without. Discussion: In our experience, AFM patients who require chronic ventilator support are rarely able to be weaned. Despite clinical and surface electrodiagnostic evidence of complete phrenic nerve involvement, the patient's diaphragm responded to direct stimulation. The patient preferred pacing over non-pacing times and showed improved ventilatory ability with pacing as opposed to without, though remains ventilator-dependent. These findings support augmentation of diaphragm function and possible enhanced recovery of spontaneous function.

Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders.

Genetic disorders that disrupt the structure and function of the cardiovascular system and the peripheral nervous system are common enough to be encountered in routine cardiovascular practice. Although often these patients are diagnosed in childhood and come to the cardiologist fully characterized, some patients with hereditary neuromuscular disease may not manifest until adulthood and will present initially to the adult cardiologist for an evaluation of an abnormal ECG, unexplained syncope, LV hypertrophy, and or a dilated cardiomyopathy of unknown cause. Cardiologists are often ill-equipped to manage these patients due to lack of training and exposure as well as the complete absence of practice guidelines to aid in the diagnosis and management of these disorders. Here, we review three key neuromuscular diseases that affect the cardiovascular system in adults (myotonic dystrophy type 1, Friedreich ataxia, and Emery-Dreifuss muscular dystrophy), with an emphasis on their clinical presentation, genetic and molecular pathogenesis, and recent important research on medical and interventional treatments. We also advocate the development of interdisciplinary cardio-neuromuscular clinics to optimize the care for these patients.

Vitamin D deficiency in patients with neuromuscular diseases with chronic respiratory failure.

BACKGROUND: The prevalence and clinical implications of vitamin D deficiency have never been studied in patients with underlying neuromuscular diseases complicated with chronic respiratory failure. The aim of this study is to demonstrate the prevalence of vitamin D deficiency, its relationship with other bone markers, and mode of nutrition. MATERIALS AND METHODS: Serum 25-hydroxyvitamin D (25[OH]D) levels along with calcium, serum albumin, and phosphorus levels were obtained from 57 patients with chronic respiratory failure due to underlying neuromuscular diseases. These levels were obtained during their first visit to a chronic respiratory diseases clinic. Data with regard to nutrition, respiratory muscle function, and level of mobility were also obtained at the same time. RESULTS: Seventy-five percent of patients had serum 25(OH)D levels ≤ 30 ng/mL. There is a negative correlation between parathyroid hormone and 25(OH)D levels (P = .006) and corrected calcium levels (P = .066). Serum 25(OH)D levels varied with the mode of nutrition. Patients on enteral nutrition had the highest serum levels of 25(OH)D, whereas combined oral and tube feeds had the lowest 25(OH)D levels (P = .006). CONCLUSION: Low serum 25(OH)D levels are highly prevalent in patients with neuromuscular disease and chronic respiratory failure. The route of nutrition has an impact on these levels.

Fatigue in healthy and diseased individuals.

OBJECTIVES: Although fatigue is experienced by everyone, its definition and classification remains under debate. METHODS: A review of the previously published data on fatigue. RESULTS: Fatigue is influenced by age, gender, physical condition, type of food, latency to last meal, mental status, psychological conditions, personality type, life experience, and the health status of an individual. Fatigue may not only be a symptom but also a measurable and quantifiable dimension, also known as fatigability. Additionally, it may be classified as a condition occurring at rest or under exercise or stress, as physiologic reaction or pathologic condition, as spontaneous phenomenon or triggerable state, as resistant or irresistant to preconditioning, training, or attitude, as prominent or collateral experience, and as accessible or inaccessible to any type of treatment or intervention. Fatigue may be the sole symptom of a disease or one among others. It may be also classified as acute or chronic. Quantification of fatigability is achievable by fatigue scores, force measurement, electromyography, or other means. Fatigue and fatigability need to be delineated from conditions such as sleepiness, apathy, exhaustion, exercise intolerance, lack of vigor, weakness, inertia, or tiredness. Among neurological disorders, the prevalence of fatigue is particularly increased in multiple sclerosis, amyotrophic lateral sclerosis, Parkinson disease, traumatic brain injury, stroke, and bleeding and also in neuromuscular disorders. Fatigue may be influenced by training, mental preconditioning, or drugs. CONCLUSIONS: Fatigue needs to be recognized as an important condition that is not only a symptom but may also be quantified and can be modified by various measures depending on the underlying cause.

Management of pulmonary complications in neuromuscular disease.

Restrictive lung disease occurs commonly in patients with neuromuscular disease. The earliest sign of respiratory compromise in the patient with neuromuscular disease is nocturnal hypoventilation, which progresses over time to include daytime hypoventilation and eventually the need for full-time mechanical ventilation. Pulmonary function testing should be done during regular follow-up visits to identify the need for assistive respiratory equipment and initiate early noninvasive ventilation. Initiation of noninvasive ventilation can improve quality of life and prolong survival in patients with neuromuscular disease.

[Comparison of treatment results of idiopathic and non-idiopathic congenital clubfoot : prospective evaluation of the Ponseti therapy]. / Vergleich der Behandlungsergebnisse bei kongenitalen idiopathischen und nichtidiopathischen Klumpfüßen : Prospektive Evaluation der Ponseti-Therapie.

BACKGROUND: Clubfoot deformity is one of the most common congenital musculoskeletal deformities and occurs in newborns with different neuromuscular diseases. To date the Ponseti method is the gold standard for the treatment of idiopathic clubfeet but not for non-idiopathic clubfeet which are associated with neuromuscular diseases. The results of the treatment for congenital idiopathic and non-idiopathic clubfeet according to Ponseti performed in our department since 2004 were compared concerning results and relapse surgery with particular reference to the compliance of the parents concerning the use of an abduction splint. PATIENTS AND METHODS: A total of 101 children (28 female and 73 male) with 159 clubfeet were treated with the Ponseti method and included in this prospective non-randomized cohort study. Of these children 27 with 48 affected feet suffered from neuromuscular diseases which are associated with clubfoot deformity, such as myelomeningocele (n=4), arthrogryposis (n=9) and various other syndromes (n=14). The degree of the deformity was evaluated with the Pirani score initially, after casting and at follow-up. Parents were asked at follow-up to state subjectively how compliant they were with the abduction splint treatment. The necessity of surgical treatment of relapses was recorded. Statistical analysis was performed applying χ(2) and Kruskal-Wallis tests for the comparison of idiopathic and non-idiopathic clubfeet. RESULTS: The average period of follow-up was 36 month (range 6-75 months) and non-idiopathic clubfeet were initially significantly more severely deformed according to the Pirani-score (p=0.013). Treatment of non-idiopathic clubfeet was started significantly later than that of idiopathic clubfeet (p=0.003) and took significantly longer (p <0.001). A correlation between the initiation of casting and the duration of casting was not found (p=0.399). At the end of the casting period no significant differences were found between correction of idiopathic and non-idiopathic clubfeet with respect to the Pirani score (p=0.8). The mean score after casting was 0.1 in both groups. At mid-term follow-up the score increased in both groups but stayed below 0.5 with non-idiopathic clubfeet showing a significantly higher score than idiopathic clubfeet (p=0.014). Relapse surgery was necessary in 11% of the patients. No significant difference in the revision rate was found between the two groups (p=0.331) and peritalar release was not necessary in either group. The rate of revisions correlated with the compliance concerning the use of the abduction splint (p <0.001). Only 61% of the parents stated that they adhered strictly to the abduction splint treatment recommendations with no significant difference between the groups (p=0.398). CONCLUSION: This study shows good initial results after Ponseti treatment for idiopathic as well as non-idiopathic clubfeet. Based on the good functional results all clubfeet should initially be treated with the Ponseti method regardless of the etiology.

Low-frequency electrotherapy for female patients with detrusor underactivity due to neuromuscular deficiency.

INTRODUCTION AND HYPOTHESIS: The aim of the study was to assess the efficacy of low-frequency electrotherapy (LFE) for female patients with early-stage detrusor underactivity (DUA) due to neuromuscular deficiency. METHODS: A total of 102 female patients were divided randomly into four groups: LFE-NC (normal compliance), LFE-LC (low compliance), CON (control)-NC and CON-LC. Patients in the LFE-NC and LFE-LC groups received LFE, and those in the CON-NC and CON-LC groups received conservative treatment. Urodynamic evaluation was performed before and after treatment. RESULTS: After treatment, 82 % of the LFE-NC regained detrusor contractility, whereas only 2 (8 %) of the CON-NC had normal detrusor contraction. None of LFE-LC or CON-LC regained detrusor contractility (p < 0.01). The per cent of LFE-NC who relied on catheterization for bladder emptying decreased by 43 % (p < 0.01). Those in the LFE-LC, CON-NC and CON-LC groups decreased by only 4, 12 or 0 % (p > 0.05). CONCLUSIONS: LFE was more effective for DUA patients with normal compliance; these patients benefited from LFE, but DUA patients with low compliance did not.

Indicaciones y cumplimiento con la insuflación-exuflación mecánica domiciliaria en pacientes con enfermedades neuromusculares / Indications and Compliance of Home Mechanical Insufflation-Exsufflation in Patients with Neuromuscular Diseases

IntroducciónCon frecuencia, los pacientes con enfermedades neuromusculares (ENM) presentan un deterioro del mecanismo de la tos. Se ha demostrado la eficacia de la insuflación-exuflación mecánica (IEM) en la mejora del aclaramiento de las vías respiratorias aunque no se dispone de datos relacionados con su utilización domiciliaria a largo plazo. El objetivo del presente estudio fue describir las indicaciones, tolerabilidad y cumplimiento con la IEM domiciliaria en pacientes con ENM.MétodosAnálisis observacional de 4 años de duración de 21 pacientes ENM tratados con IEM domiciliaria. El diagnóstico incluyó esclerosis lateral amiotrófica (ELA) bulbar y no bulbar y otras ENM. La edad mediana fue de 58 años. Solo se incluyeron pacientes cooperadores con valores de flujo pico de tos basal (FTM) no asistido <270l/min. Todos los pacientes estaban sometidos a ventilación mecánica continua (seis mediante traqueostomía). La función pulmonar previa al inicio de la IEM (mediana) era: FVC, 0,81 l, MIP, 28cmH2O, MEP=22cmH2O y PCF=60l/min. Cuidadores no profesionales adiestrados previamente con el apoyo permanente de un profesional sanitario experto efectuaron la IEM. En los pacientes se monitorizó la pulsioximetría y se aplicó IEM siempre que la SpO2 fue <95%. El seguimiento mediano fue de 12 meses (3–41 meses)(AU)

ResultadosUtilizaron diariamente IEM 10 pacientes (nueve con ELA). La utilizaron de forma intermitente 11 pacientes durante las exacerbaciones y en 8 la aplicación precoz de IEM (guiada por la información de la oximetría) evitó la hospitalización. Todos los pacientes traqueostomizados utilizaron la IEM a diario y un mayor número de veces al día que los pacientes sometidos a ventilación mecánica no invasiva (VNI). Requirieron ingreso hospitalario 4 pacientes (3 ELA bulbar) debido a la acumulación de secreciones. La IEM fue bien tolerada y no se asoció a complicaciones. En general, los cuidadores la consideraron eficaz. Durante este período, 4 pacientes fallecieron, en relación con la progresión de la enfermedad.ConclusionesLa IEM domiciliaria es bien tolerada, eficaz y segura cuando la utilizan cuidadores adiestrados apropiadamente. Debe considerarse un complemento de la ventilación mecánica(AU)

IntroductionNeuromuscular disease (NMD) patients frequently have impaired cough. Mechanical insufflation-exsufflation (MI-E) has proven efficacy in improving airway clearance, however data related to its long-term home use is lacking. The purpose of this study was to describe indications, safety and compliance of home MI-E in NMD patients.MethodsFour years observational analysis of 21 NMD patients on home MI-E. Diagnosis included bulbar and non-bulbar Amyotrophic Lateral Sclerosis (ALS) and other NMD. Median age was 58 years. Only cooperative patients with unassisted baseline Peak Cough Flow (PCF) <270L/min were included. All patients were under continuous mechanical ventilation (6 by tracheostomy). Pulmonary function before initiation of MI-E (median): FVC=0.81L, MIP=28cmH2O, MEP=22cmH2O and PCF=60L/min. MI-E was performed by previously trained non-professional caregivers, with an on-call support of a trained health care professional. Patients had pulse oximetry monitorization and applied MI-E whenever SpO2<95%. Median follow-up was 12 months (3–41 months).ResultsTen patients (9 ALS) used MI-E daily. Eleven patients used MI-E intermittently, during exacerbations, and in 8 patients early application of MI-E (guided by oximetry feed-back) avoided hospitalization. All tracheostomized patients used MI-E daily and more times a day than patients under NIV. Four patients (3 bulbar ALS), were hospitalized due to secretion encumbrance. MI-E was well-tolerated and there were no complications. In general, caregivers considered MI-E effective. During this period, 4 patients died, related to disease progression.ConclusionsHome MI-E is well tolerated, effective and safe if used by well trained caregivers. MI-E should be considered as a complement to mechanical ventilation(AU)

Open gastrostomy under local anesthesia for patients with neuromuscular disorders.

Patients with neuromuscular disease often require gastrostomy, yet respiratory complications in these patients can preclude the use of general anesthesia, intravenous sedation, or endoscopy. The purpose of this study is to report successful use of open gastrostomy that can be performed under local anesthesia. Fifty-four patients underwent this modified procedure. There were no deaths or complications. They lived an average of 43.4 +/- 6.2 (SE) months postgastrostomy tube placement. Simplified open gastrostomy can be performed safely for patients with neuromuscular disease with resulting improvements in both longevity and quality of life.

Chronic pelvic pain.

Though there are myriad etiologies of CPP, common therapeutic targets include inflammation, somatic dysfunction, and psychological disturbances. Inflammation may be addressed not only with dietary changes including nutritional and botanical supplements but also with mind-body therapies. Somatic dysfunction may respond to manipulative therapies provided by osteopaths, naturopaths, chiropractors, and some physical therapists. Therapists may also offer visceral, craniosacral, myofascial, and other whole-body therapies, as can highly trained massage therapists and bodyworkers. Mental health care may be key in many cases. Integrative medicine heralds the return to a sense of the human being's intrinsic capacity for healing, incorporating the vitalism of many of the therapies' origins (traditional Chinese medicine, indigenous medicine, ayurveda, osteopathy, chiropractic, etc) with the gains made by a more reductionistic tradition. Given the complexity and wide variation of etiologies and symptoms of CPP, using an integrative approach may offer expanded therapeutic solutions. We must expand our capacity to listen to each patient-with ears, eyes, mind, heart, and hands. Each treatment plan may then be tailored to the unique history and perspective that lie within the individual. Doing so requires the essential elements of time, skill, and love.

Changes in the structure of collagen distribution in the skin caused by a manual technique.

OBJECTIVE: When treating patients with functional disorders using a special manual technique, tissue changes can be felt by the therapist and the patient. This study was conducted to objectively document these changes. METHOD: In the author's practice for body therapy, 30 patients were measured with high-frequency ultrasound (22MHz) immediately before and after their first treatment in the area where they experienced pain or other discomfort and/or movement restriction. RESULTS: Highly significant differences can be seen in the structure of the collagen matrix in the dermis before and after treatment. These changes reflect the differences in tension, softness and regularity, which can be palpated before and after treatment and are thought to be caused by changes in the mechanical forces of fibroblasts and increased microcirculation.