hypoventilation/atrofia

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Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome.

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Dilp1 is a semi-dominant mouse mutation that causes dilated pupils when heterozygous and is lethal when homozygous. We report here that it is caused by a point mutation that introduces a stop codon close to the start of the coding sequence of the paired-like homeobox transcription factor Phox2b.

Comparison of arterial and venous blood gases in patients with obesity hypoventilation syndrome and neuromuscular disease.

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Obesity hypoventilation syndrome (OHS) and some neuromuscular diseases (NMD) present with hypercapnic respiratory failure. Arterial blood gas (ABG) analysis is important in the diagnosis, follow-up, and treatment response of these diseases. However, ABG sampling is difficult in these

Multiple system atrophy presenting with acute respiratory failure due to diaphragmatic dysfunction.

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Sleep related respiratory dysfunction and vocal cord paralysis are considered to be the major factors responsible for respiratory failure in multiple system atrophy (MSA). We report a patient initially presenting with alveolar hypoventilation culminating in respiratory failure, ultimately diagnosed

Hindbrain-hernia-related syringomyelia without syringobulbia, complicated by permanent nocturnal central hypoventilation requiring non-invasive ventilation.

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BACKGROUND In the absence of syringobulbia, hindbrain hernia does not commonly cause permanent respiratory complications. We present two patients who developed permanent central nocturnal hypoventilation following acute deterioration of hindbrain-hernia-related syringomyelia despite successful

Hypoventilation and hypoxia in reversal of cardiogenic shock in an infant with congenital heart disease.

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The case is presented of a child in cardiogenic shock in whom oxygen administration exacerbated a systemic to pulmonary shunt that caused a critical deterioration in his cardiovascular status requiring hypoventilation and restoration of baseline hypoxia for reversal.

Chronic alveolar hypoventilation: a review for the clinician.

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Chronic alveolar hypoventilation may present in an insidious fashion with nonspecific manifestations. The clinician should be aware of the potential for developing this condition in patients with certain thoracic and systemic diseases. Once chronic alveolar hypoventilation is confirmed with arterial

Anaesthetic management of a patient with Leigh's syndrome with central hypoventilation and obstructive sleep apnoea.

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Leigh's syndrome, which is characterised by progressive neurodegeneration involving the brainstem and basal ganglia, belongs to a family of disorders classified as mitochondrial myopathies. It is most commonly transmitted by an autosomal recessive mode of inheritance, but can sometimes occur in a

Congenital muscle fiber-type disproportion in a patient with congenital central hypoventilation syndrome due to PHOX2B mutations.

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Increasing numbers of genetic origins are being reported for congenital muscle fiber-type disproportion. Most of these identified disorders are genetic myopathies. This is the first case report (to our knowledge) demonstrating congenital central hypoventilation syndrome due to PHOX2B mutations with

Magnetic resonance imaging and computerized tomography in central hypoventilation.

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Central hypoventilation syndrome (CHS) is a disorder of respiratory control. It may be an idiopathic primary disease or it may be the secondary consequence of an infectious process or Chiari II malformation. Clinical data suggest that the primary defect involves the brainstem respiratory centers. To

Diaphragm pacing in spinal muscular atrophy: case report.

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A patient with a diagnosis of intermediate or benign spinal muscular atrophy was severely incapacitated from respiratory complications and alveolar hypoventilation and was confined to mechanical ventilatory support. After extensive diagnostic evaluation of her pulmonary status, including

Multiple system atrophy presenting as central sleep apnoea.

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A 61-yr-old male presented with apparent idiopathic central sleep apnoea but after 4 yrs developed features of autonomic, cerebellar and extrapyramidal dysfunction consistent with a diagnosis of multiple system atrophy (MSA). Though central sleep apnoea can occur in multiple sleep apnoea, it is less

Moebius syndrome with central hypoventilation and brainstem calcification: a case report.

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Moebius syndrome (MS) is described in an infant with central hypoventilation and brainstem calcification. The patient had limb defects and bilateral paralysis of the 6th, 7th, 9th, 10th, and 12th cranial nerves. Mechanical ventilation was continued from birth because of shallow spontaneous

[Analysis of withdrawal from noninvasive mechanical ventilation in patients with obesity-hypoventilation syndrome. Medium term results].

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OBJECTIVE To evaluate the possibility of cessation of noninvasive mechanical ventilation or noninvasive positive pressure ventilation (NPPV) treatment in patients with obesity-hypoventilation syndrome (OHS). METHODS A study was carried out on 22 OHS patients who had received NPPV for a minimum of 1

Neuropsychological profile and social cognition in congenital central hypoventilation syndrome (CCHS): Correlation with neuroimaging in a clinical case.

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BACKGROUND Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder due to paired-like homeobox gene (PHOX2B) mutations. CCHS patients suffer from dysregulation of the autonomic nervous system characterized by the absence of or extremely reduced response to hypercapnia and

Changing respiratory expectations with the new disease trajectory of nusinersen treated spinal muscular atrophy [SMA] type 1.

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Spinal muscular atrophy [SMA] is the most common genetic cause of childhood mortality, primarily from the most severe form SMA type 1. It is a severe, progressive motor neurone disease, affecting the lower brainstem nuclei and the spinal cord. There is a graded level of severity with SMA children

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