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A sleep study, or at least overnight monitoring of nocturnal gas exchange is mandatory for detecting nocturnal alveolar hypoventilation. Training for patients and caregivers in cough-assisted techniques is recommended when respiratory muscle strength falls below 50% of predicted or in case of recurrent or severe respiratory infections. Noninvasive ventilation (NIV) should be initiated in case of isolated nocturnal hypoventilation and followed by a pediatric respiratory team with expertise in NIV. Multidisciplinary (neurology and respiratory) pediatric management is crucial for optimal care of children with SMA. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.Infantile spinal muscular atrophy (SMA) type 2 is sometimes called intermediate SMA to indicate the disease severity. Generally, psychomotor development is normal until the age of 6 to 8 months, with the acquisition of a stable sitting position. The early signs are muscle weakness, mostly affecting the lower limbs, generalized hypotonia and areflexia. The consequences of motor neuron degeneration are functional and orthopaedic, respiratory, nutritional, socio-professional, and psychological. Tacrolimus nmr The implementation of standardized care (i.e., standard of care recommendations) has improved the quality of life and survival outcome of patients. The emergence of innovative therapies, some of which are now available, should further improve the clinical evolution of this disease. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.Spinal muscular atrophy type I, also called Werdnig-Hoffmann disease, is the most serious form. The disease appears before the age of 6 months and is characterized by major global hypotonia and abolition of tendon reflexes, with children never being able to sit unaided. Cognitive development is normal and the expressive gaze of these children contrasts with the paralytic attitude. Respiratory involvement predominates in the intercostal muscles, and sometimes brainstem involvement are all serious aspects of the disease. Type I spinal muscular atrophy has been subdivided into 3 groups - type IA, the clinical signs of which set in between birth and 15 days of life with sudden severe motor impairment, sucking-swallowing disorders attesting to bulbar involvement, respiratory distress. - type IB with onset of symptoms before the age of 3 months, which implies no head control - type IC starting between 3 and 6 months with the possibility of checking head control, often referred to as "I bis" by French practitioners. The development and use of innovative therapies in recent years does actually change the natural course of this disease. But we do not know for sure what the long-term evolution of infants who received these new therapies will be. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

The goal of this study is to investigate the impact of various underlying heart diseases (UHDs) and prior atrial fibrillation (AF) episodes on conduction heterogeneity.

It is unknown whether intra-atrial conduction during sinus rhythm differs between various UHD or is influenced by AF episodes.

Epicardial sinus rhythm mapping of the right atrium, Bachmann's bundle (BB), left atrium and pulmonary vein area was performed in 447 participants (median age 67 [interquartile range (IQR) 59 to 73] years) with or without AF undergoing cardiac surgery for ischemic heart disease, (ischemic and) valvular heart disease, or congenital heart disease. Conduction times (CTs) were defined as Δ local activation time between 2 adjacent electrodes and used to assess frequency (CTs≥ 4ms) and magnitude of conduction disorders (in increments of 10ms).

When comparing the 3 types of UHD, there were no differences in frequencies and magnitude of CTs at all locations (p≥ 0.017 and p≥ 0.005, respectively). Prior AF episodes were associated with conduction slowing throughout both atria (14.9% [IQR 11.8 to 17.0] vs. 12.8% [IQR 10.9 to 14.6]; p<0.001). At BB, CTs with magnitudes≥30ms were more common in patients with AF (n=56.2% vs. n=36.0%; p<0.004).

UHD has no impact on the frequency and severity of conduction disorders. AF episodes are associated with more conduction disorders throughout both atria and with more severe conduction disorders at BB. The next step will be to determine the relevance of these conduction disorders for AF development and maintenance.

UHD has no impact on the frequency and severity of conduction disorders. AF episodes are associated with more conduction disorders throughout both atria and with more severe conduction disorders at BB. The next step will be to determine the relevance of these conduction disorders for AF development and maintenance.