[PDF] Top 20 Una experiencia desde el laboratorio de matemáticas para la construcción de recursos pedagógicos en el aula
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Nemaline Myopathy as a Cause of Sleep Hypoventilation
... It is postulated that respiratory failure in nemaline myopathy may not be related to the severity of the muscle weakness but may result from a disturbance of the feedback required for no[r] ... See full document
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A nemaline myopathy mutation in α tropomyosin causes defective regulation of striated muscle force production
... Nemaline myopathy (NM) is a rare autosomal dominant skeletal muscle myopathy characterized by severe muscle weakness and the subsequent appearance of nemaline rods within the muscle ... See full document
5
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy
... Frozen muscle from the psoas, quadriceps, diaphragm and cardiac muscles collected at the time of autopsy were available for histological review. Gomori trichrome staining of the psoas muscle (Figure 1B) revealed skele- ... See full document
15
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases
... HIV-associated nemaline myopathy showed the same constellation of features seen in SLONM, including proximal limb weakness, myopathic EMG and slightly elevated serum CK ...of myopathy before the HIV ... See full document
63
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature
... congenital nemaline myopathy present- ing with classical features of the disease (fractures, respira- tory insufficiency and absence of spontaneous movement at birth) combined with unusual presentation ... See full document
5
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
... congenital nemaline myopathies are rare hereditary muscle disorders characterized by the presence in the muscle fibers of nemaline bodies consisting of proteins derived from the Z disc and thin ...of ... See full document
69
KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy
... classic nemaline bodies are not read- ily apparent in the KO mice, except in highly disorganized fibers in which they present as widened ...with nemaline bodies in patient biopsies (9, ...fide ... See full document
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Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene
... sensitivity of slow-twitch muscle fibers. Indeed, recent work showed that slow-twitch diaphragm muscle fibers of patients with chronic obstructive pulmonary disease had an increased submaximal force after exposure to ... See full document
5
Inhibition of myostatin improves muscle atrophy in oculopharyngeal muscular dystrophy (OPMD)
... and nemaline myopathy, 41–43 and this anti- body is currently in phase II clinical trial for DMD (NCT 02907619 and NCT 02310763 ...and nemaline myopathy models was observed by ...that ... See full document
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Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy
... Abstract: Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after ...of nemaline myopathy ...for nemaline ... See full document
6
Cullin-3–dependent deregulation of ACTN1 represents a pathogenic mechanism in nemaline myopathy
... lethality phenotype. Indeed, all skm-KO embryos died within 30 minutes following C-section (Figure 2A). skm-KO neonates showed few and slow spontaneous movements, and rapidly turned cyanotic (Figure 2B and Supplemental ... See full document
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Nemaline Myopathy With Dilated Cardiomyopathy in Childhood
... progressive nemaline myopathies are not necessarily benign disorders be- cause some patients show rapid pro- gression that leads to death due to aggressive involvement of cardiac ... See full document
40
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
... To identify the genetic cause in this cohort of patients, we performed exome enrichment and sequencing on genomic DNA from the patients and their parents. Exome sequencing allows a rapid and parallel screening of ... See full document
53
Massive Scrotal Edema: An Unusual Manifestation of Obstructive Sleep Apnea and Obesity-Hypoventilation Syndrome
... Obstructive sleep apnea (OSA) is a syndrome characterized most often by symptoms of loud snoring, breathing inter- ruptions or awakenings during sleep, and excessive daytime sleepiness ...during ... See full document
49
Sleep hypoventilation and daytime hypercapnia in stable chronic obstructive pulmonary disease
... to sleep with electrodes on head and body and technical artifacts in P tc CO 2 -signal (Figure 1, further details in Supplementary ...spontaneous sleep were ... See full document
13
Clinical Reasoning: Subacute paresis in a 28-year-old man with HIV
... Weakness with a pattern of more proximal and axial involvement and rather subacute course could suggest HIV-associated neuromuscular disorders including in- flammatory demyelinating polyneuropathy, motor neuron disease, ... See full document
42
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy
... Functional insights – Evidence strongly suggests that DNAJB6-myopathy mutations are gain-of-deleterious- function mutations. Protein mutated at Phe89, Phe93 and Pro96, or lacking the G/F domain (ΔG/F), intro- ... See full document
75
Sleep in chronic respiratory disease: COPD and hypoventilation disorders
... While sleep has many effects on breathing, some factors relating to COPD promote the development of OSA whereas others are protective (figure ...REM sleep, and medications such as ... See full document
18
M mode ultrasound and tissue Doppler imaging to assess diaphragm function in late onset Pompe disease
... nocturnal hypoventilation as the cause of dyspnea and orthopnea, in a patient with ...nocturnal hypoventilation, supine dyspnea aggravation, daytime hypercapnia, fatigue and excessive daytime ... See full document
108
Protective effects of grape seed and skin extract against high-fat-diet-induced lipotoxicity in rat lung
... Background: Obesity is a public health problem characterized by increased fat accumulation in different tissues. Obesity is directly linked to breathing problems and medical complications with lung, including obstructive ... See full document
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