Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020440 (hypercapnia)
 7,939 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We herein report a patient case with familial amyloidotic polyneuropathy (FAP) who presented with vocal cord paralysis (VCP). A 60-year-old man with FAP (Gly89Gln) presented with hoarseness and snoring for the previous two years. A chest X-ray demonstrated cardiomegaly and bilateral diaphragmatic elevation. The findings of a restrictive pattern on spirometry and daytime hypercapnia were consistent with respiratory muscle weakness related to neuropathy [forced expiratory volume (FEV1): 38%, forced vital capacity (FVC): 39%, FEV1/FVC: 77, partial pressure of arterial oxygen (PaO2): 80 mmHg, partial pressure of carbon dioxide in arterial blood (PaCO2): 52 mmHg]. An ear-nose-throat examination showed VCP. Polysomnography revealed severe obstructive sleep apnea (OSA). FAP may cause OSA by VCP and hypercapnic respiratory failure by respiratory muscle weakness. Therefore, an ear-nose-throat examination, spirometry, arterial blood gases analysis and polysomnography are important for these patients.
...
PMID:Vocal Cord Paralysis and Hypercapnic Respiratory Failure in a Patient with Familial Amyloidotic Polyneuropathy. 2737 84

Sleep disordered breathing (SDB) is a common condition in infants and children. SDB encompasses a spectrum of respiratory disorders, which are defined as either obstructive or central in nature. Obstructive SDB ranges in severity from primary snoring (PS), to obstructive sleep apnea (OSA). There are a number of conditions characterized by central sleep apnea (CSA), including but not limited to periodic breathing in infants, Arnold Chiari malformations, and idiopathic CSA. SDB is associated with adverse cardiovascular and neurocognitive outcomes believed to be the consequence of the repeated cycles of hypoxia followed by reperfusion, hypercarbia, and sleep fragmentation. The peripheral hypoxia in individuals with SDB may not reflect cerebral oxygenation, and near infrared spectroscopy (NIRS) has been used to determine oxygen delivery and uptake in the brain. Neuroimaging in the form of structural and functional magnetic resonance imaging (MRI, fMRI), diffusion tensor imaging (DTI), and magnetic resonance spectroscopy (MRS) have become widely used to determine the structural, functional and chemical changes in the brain associated with SDB. This review will explore the relationship between central and obstructive SDB and changes in cerebral oxygenation together with changes in brain structure and function, in infants and children. It is important to identify any adverse effects so that they can be mitigated as early as possible to minimize any detrimental effects on the developing brain.
 ...
PMID:Insights into the effects of sleep disordered breathing on the brain in infants and children: Imaging and cerebral oxygenation measurements. 3188 91

Obstructive sleep apnoea syndrome (OSAS) is the most severe form of sleep-related disordered breathing (SRDB) and is characterised by snoring, apnoeas, and/or hypopnoeas associated to hypoxia, hypercarbia, or repeated arousals from sleep. OSAS has three major categories of morbidities: neurobehavioural, cardiovascular and somatic growth failure. The gold standard for objective diagnosis of obstructive-SRDB severity is polysomnography (PSG). The indication for surgical treatment in children is moderate-severe OSAS (AHI, apnoea hypopnoea index > 5/h) and in mild OSAS (AHI 2-5/h) with complications or morbidity. The entire spectrum of PSG-defined SRDB (ranging from Primary Snoring to severe OSAS) may correlate with behavioural, attentional and executive function deficits relating to hypoxia and sleep disruption: in some cases, these alterations may mimic attention deficit hyperactivity disorder (ADHD). The aim of this research was to evaluate visuoperceptual and constructional abilities, paediatric sleep questionnaire and polysomnographic scores before and 6 months after adenotonsillectomy with objective and subjective information. We included 59 children who underwent neuropsychiatric and otolaryngologist clinical evaluation and the Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI); children parents were asked to fill in the Paediatric Sleep Questionnaire (PSQ); each child underwent PSG. At 6 months after adenotonsillectomy, all patients were evaluated again. There is a significant difference in PSQ parameters, VMI standard, visual tests scores and PSG parameters before and after adenotonsillectomy in children affected by OSAS. These results showed the achievement of therapeutic benefits with improvement of the quality of life for both children and their parents.
 ...
PMID:Evaluation of neurocognitive abilities in children affected by obstructive sleep apnea syndrome before and after adenotonsillectomy. 3246 6


<< Previous 1 2 3 4 5