Sleep-disordered breathing and respiratory failure in acid maltase deficiency.

Abstract:

BACKGROUND:Sleep-disordered breathing (SDB) and respiratory failure (RF) are complications of acid maltase deficiency (AMD), a rare hereditary myopathy. OBJECTIVE:To define the relationship between lung and respiratory muscle function, to establish incidence and patterns of SDB, and to determine daytime predictors of SDB. METHODS:Sitting and supine lung and respiratory muscle function tests were obtained in 27 subjects with juvenile and adult AMD (aged 39 +/- 19 years) and compared with outcomes of polysomnography. RESULTS:Ventilatory restriction was present in 17/27 subjects. Inspiratory vital capacity (IVC) correlated (p < 0.005) with peak inspiratory muscle pressure (PIP, R = 0.61), respiratory muscle strain (P(0.1)/P(0.1max), R = -0.68), and gas exchange by day (PaO(2): R = 0.71; PaCO(2): R = -0.64) and night (SaO(2): R = 0.73; P(tc)CO(2): R = -0.75). Diaphragm weakness (DW) was present in 13 subjects, 10 of whom had hypercapnic RF (PaCO(2) 65 +/- 7 mm Hg), and was associated with longer disease course. SDB was found in 13 subjects, 12 with DW. It was characterized by REM-sleep hypopneas that, as ventilatory restriction worsened, were complemented by hypoventilation (P(tc)CO(2) > 50 mm Hg) first in REM sleep, then in non-REM sleep (p < 0.005). SDB was predicted by DW (sensitivity 80%, specificity 86%) and nocturnal hypoventilation by IVC < 40% (sensitivity 80%, specificity 93%). Noninvasive ventilation, instituted for daytime respiratory failure or nocturnal hypoventilation, normalized daytime and nocturnal gas exchange (p < 0.005). CONCLUSION:Vital capacity correlates with respiratory muscle function in AMD. Diaphragm weakness is the major cause of SDB and RF. SDB and nocturnal hypoventilation are predictable from daytime function tests.

journal_name

Neurology

journal_title

Neurology

authors

Mellies U,Ragette R,Schwake C,Baethmann M,Voit T,Teschler H

doi

10.1212/wnl.57.7.1290

subject

Has Abstract

pub_date

2001-10-09 00:00:00

pages

1290-5

issue

7

eissn

0028-3878

issn

1526-632X

journal_volume

57

pub_type

杂志文章
  • Treatment of status epilepticus in children.

    abstract::In children, seizures associated with status epilepticus (SE) include a number of types that are age-related. These types of seizures are not associated with SE in older patients. Likewise, etiologies of SE in children are also unique to this patient population, in particular those responsible for SE in the neonate. C...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:

    authors: Lockman LA

    更新日期:1990-05-01 00:00:00

  • Interictal, circulating sphingolipids in women with episodic migraine: A case-control study.

    abstract:OBJECTIVE:To evaluate interictal, circulating sphingolipids in women migraineurs. METHODS:In the fasting state, serum samples were obtained pain-free from 88 women with episodic migraine (EM; n=52) and from controls (n=36). Sphingolipids were detected and quantified by high-performance liquid chromatography coupled wi...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000002004

    authors: Peterlin BL,Mielke MM,Dickens AM,Chatterjee S,Dash P,Alexander G,Vieira RV,Bandaru VV,Dorskind JM,Tietjen GE,Haughey NH

    更新日期:2015-10-06 00:00:00

  • The neurobiology of sphingosine 1-phosphate signaling and sphingosine 1-phosphate receptor modulators.

    abstract::Sphingosine 1-phosphate receptors (S1PRs) are G protein-coupled receptors expressed by many cell types, including immune and neural cells. These receptors are promising targets for immunomodulatory and possibly neuromodulatory therapies. Fingolimod (FTY720) is a sphingosine analog that, when phosphorylated, becomes a ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e31820d9507

    authors: Soliven B,Miron V,Chun J

    更新日期:2011-02-22 00:00:00

  • Global aphasia without hemiparesis: multiple etiologies.

    abstract::Acute global aphasia without hemiparesis has been considered pathognomonic of embolic stroke. During 1 year, we encountered six patients with this syndrome. Two had multiple strokes, probably embolic. One had atrial fibrillation; at autopsy, there were metastases as well as multiple infarcts in the left hemisphere. On...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.37.2.201

    authors: Legatt AD,Rubin MJ,Kaplan LR,Healton EB,Brust JC

    更新日期:1987-02-01 00:00:00

  • Change in body mass index and risk of incident Alzheimer disease.

    abstract:OBJECTIVE:To examine the association of change in body mass index (BMI) with risk of Alzheimer disease (AD). METHODS:Nine hundred eighteen older Catholic clergy participating in the Religious Orders Study without dementia at baseline were studied. Outcome measures were the clinical diagnosis of AD and change in cognit...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000176061.33817.90

    authors: Buchman AS,Wilson RS,Bienias JL,Shah RC,Evans DA,Bennett DA

    更新日期:2005-09-27 00:00:00

  • Antiplatelets, ACE inhibitors, and statins combination reduces stroke severity and tissue at risk.

    abstract:BACKGROUND:Antiplatelets (APL), angiotensin-converting enzyme (ACE) inhibitors (ACEI), and statins (STAT) are commonly used for stroke prevention. The authors examined whether combination therapy with these agents has additive protective effects in reducing ischemic stroke severity. METHODS:The authors retrospectively...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000208406.45440.84

    authors: Kumar S,Savitz S,Schlaug G,Caplan L,Selim M

    更新日期:2006-04-25 00:00:00

  • Optic neuritis: a population-based study in Olmsted County, Minnesota.

    abstract::We reviewed the records of all patients with optic neuritis (ON) in Olmsted County, Minnesota, identified through the comprehensive records-linkage system at the Mayo Clinic, and identified 156 ON patients from 1935 to 1991 who had onset of the disease while residing in Olmsted County (incidence cases). Poisson regres...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.45.2.244

    authors: Rodriguez M,Siva A,Cross SA,O'Brien PC,Kurland LT

    更新日期:1995-02-01 00:00:00

  • Prevalence of medically diagnosed dementia in a defined United States population: Rochester, Minnesota, January 1, 1975.

    abstract::Using the centralized diagnostic data resource for the population of Rochester, Minnesota, we determined the prevalence of medically diagnosed dementia for this community. There were 289 individuals with dementia who were residing in Rochester on January 1, 1975: 208 women and 81 men. The overall age- and sex-adjusted...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.39.6.773

    authors: Kokmen E,Beard CM,Offord KP,Kurland LT

    更新日期:1989-06-01 00:00:00

  • Natural history of nonketotic hyperglycinemia in 65 patients.

    abstract:BACKGROUND:Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an autosomal recessive disorder caused by a defect in the glycine cleavage system. NKH is classically associated with neonatal apnea, lethargy, hypotonia, and seizures, followed by severe psychomotor retardation in those who survive. ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000144270.83080.29

    authors: Hoover-Fong JE,Shah S,Van Hove JL,Applegarth D,Toone J,Hamosh A

    更新日期:2004-11-23 00:00:00

  • JC virus DNA load in patients with and without progressive multifocal leukoencephalopathy.

    abstract:OBJECTIVE:To determine the clinical value of JC virus (JCV) detection in various anatomic compartments for the diagnosis of progressive multifocal leukoencephalopathy (PML). METHODS:CSF, peripheral blood mononuclear cells (PBMC), plasma, and urine samples were evaluated from HIV-infected and uninfected individuals. JC...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.52.2.253

    authors: Koralnik IJ,Boden D,Mai VX,Lord CI,Letvin NL

    更新日期:1999-01-15 00:00:00

  • Cerebral microbleeds are a risk factor for warfarin-related intracerebral hemorrhage.

    abstract:BACKGROUND:Cerebral microbleeds are known to be indicative of bleeding-prone microangiopathy and may predict incident intracerebral hemorrhage (ICH). In this study, we investigated whether microbleeds are associated with the incidence of warfarin-related ICH. METHODS:Twenty-four patients with ICH while on outpatient t...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000339060.11702.dd

    authors: Lee SH,Ryu WS,Roh JK

    更新日期:2009-01-13 00:00:00

  • The state of clinical research in neurology.

    abstract:OBJECTIVE:To study and provide an update on the state of clinical research in neurology in the United States. METHODS:US American Academy of Neurology members and chairs of departments of neurology were surveyed regarding clinical research in 2016. NIH data on the neuroscience pipeline and extramural grant funding wer...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000005295

    authors: Hall DA,Ramos AR,Gelfand JM,Videnovic A,Benatar M,Cahill C,Kluger BM,Goldman M

    更新日期:2018-04-10 00:00:00

  • Levodopa pharmacokinetics and pharmacodynamics in fluctuating parkinsonian patients.

    abstract::We investigated levodopa intravenous infusion rates, plasma concentrations, and clinical responses in 23 parkinsonian patients with a fluctuating response to the drug. There was a linear relationship between rate of levodopa infusion and plasma concentration when carbidopa was coadministered. Minimum-therapeutically e...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.36.6.739

    authors: Nutt JG,Woodward WR

    更新日期:1986-06-01 00:00:00

  • Hypertensive Disorders of Pregnancy and Cognitive Impairment: A Prospective Cohort Study.

    abstract:OBJECTIVE:To determine the association between hypertensive disorders of pregnancy (HDP) and cognitive impairment 15 years after pregnancy, we measured cognitive performance in 115 women with a history of HDP and in 481 women with a previous normotensive pregnancy. METHODS:This was a nested cohort study embedded in a ...

    journal_title:Neurology

    pub_type: 评论,杂志文章

    doi:10.1212/WNL.0000000000011363

    authors: Adank MC,Hussainali RF,Oosterveer LC,Ikram MA,Steegers EAP,Miller EC,Schalekamp-Timmermans S

    更新日期:2021-02-02 00:00:00

  • IV thrombolysis in very severe and severe ischemic stroke: Results from the SITS-ISTR Registry.

    abstract:OBJECTIVE:To study the safety of off-label IV thrombolysis in patients with very severe stroke (NIH Stroke Scale [NIHSS] scores >25) compared with severe stroke (NIHSS scores 15-25), where treatment is within European regulations. METHODS:Data were analyzed from 57,247 patients with acute ischemic stroke receiving IV ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000002199

    authors: Mazya MV,Lees KR,Collas D,Rand VM,Mikulik R,Toni D,Wahlgren N,Ahmed N

    更新日期:2015-12-15 00:00:00

  • Primary intramedullary spinal cord lymphoma.

    abstract:OBJECTIVE:Among the rare causes of myelopathies is primary intramedullary spinal cord lymphoma (PISCL). As PISCL is often underrecognized, delaying appropriate treatment, we sought to describe its presentation, imaging characteristics, and outcomes. METHODS:Mayo Clinic medical records, lymphoma database, and autopsies...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e31822b00b9

    authors: Flanagan EP,O'Neill BP,Porter AB,Lanzino G,Haberman TM,Keegan BM

    更新日期:2011-08-23 00:00:00

  • Atherosclerotic carotid artery disease in patients with retinal ischemic syndromes.

    abstract::The extracranial carotid systems of 105 patients with retinal ischemia were examined using B-mode ultrasonography with integrated pulsed Doppler. Sixty-four patients had amaurosis fugax (AF), 17 central retinal artery occlusions (CRAO), and 21 branch retinal artery occlusions (BRAO). The prevalence of carotid stenosis...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.38.6.858

    authors: Chawluk JB,Kushner MJ,Bank WJ,Silver FL,Jamieson DG,Bosley TM,Conway DJ,Cohen D,Savino PJ

    更新日期:1988-06-01 00:00:00

  • Longitudinal diffusion changes following postoperative delirium in older people without dementia.

    abstract:OBJECTIVE:To investigate the effect of postoperative delirium on longitudinal brain microstructural changes, as measured by diffusion tensor imaging. METHODS:We studied a subset of the larger Successful Aging after Elective Surgery (SAGES) study cohort of older adults (≥70 years) without dementia undergoing elective s...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000004329

    authors: Cavallari M,Dai W,Guttmann CRG,Meier DS,Ngo LH,Hshieh TT,Fong TG,Schmitt E,Press DZ,Travison TG,Marcantonio ER,Jones RN,Inouye SK,Alsop DC,SAGES Study Group.

    更新日期:2017-09-05 00:00:00

  • Influenza and myoglobinuria in brothers.

    abstract::Two adult brothers became ill within 48 hours of each other, and both had severe myoglobinuria. One brother died of oliguric renal failure. The other did not have renal failure and survived. Acute influenza A infection was documented serologically and from throat washings in the surviving brother, and by isolation of ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.29.3.340

    authors: Zamkoff K,Rosen N

    更新日期:1979-03-01 00:00:00

  • Chronic progressive myelopathy associated with HTLV-I: oligoclonal IgG and anti-HTLV-I IgG antibodies in cerebrospinal fluid and serum.

    abstract::Among 22 patients with human T-lymphotropic virus type I (HTLV-I)-associated chronic progressive myelopathy, agarose isoelectric focusing (AIF) revealed oligoclonal IgG bands in 21: in 3 in CSF only; in 11 in CSF and to some extent in serum; and in 7, identical patterns in CSF and serum. By immunoblot after AIF of CSF...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.39.12.1566

    authors: Link H,Cruz M,Gessain A,Gout O,de Thé G,Kam-Hansen S

    更新日期:1989-12-01 00:00:00

  • Mild cognitive impairment, amnestic type: an epidemiologic study.

    abstract:OBJECTIVE:To estimate the prevalence and examine the course of mild cognitive impairment (MCI), amnestic type, using current criteria, within a representative community sample. METHODS:Retroactive application of MCI criteria to data collected during a prospective epidemiologic study was performed. The subjects were dr...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000132523.27540.81

    authors: Ganguli M,Dodge HH,Shen C,DeKosky ST

    更新日期:2004-07-13 00:00:00

  • Changes in seizure activity following anticonvulsant drug withdrawal.

    abstract::We retrospectively studied the effects of changing antiepileptic drug levels on patterns of seizure discharge in 8 patients investigated with intracerebral electrodes during presurgical evaluation. We compared seizures recorded at high levels of medication to seizures recorded at low levels for changes in seizure dura...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.40.3_part_1.407

    authors: So N,Gotman J

    更新日期:1990-03-01 00:00:00

  • Extending neurologic services to rural children.

    abstract::The University of Kentucky provides neurologic services to rural children by a traveling clinic. In 1978, 438 children (including 231 new patients) made 646 clinic visits. The primary diagnoses were appropriate for a neurology clinic; epilepsy was the most common (74 of 231) among new patients. A community survey of s...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.29.9_part_1.1298

    authors: Baumann RJ,Leonidakis MG

    更新日期:1979-09-01 00:00:00

  • Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

    abstract:OBJECTIVE:To examine the role of mutations in GABRB3 encoding the β3 subunit of the GABAA receptor in individual patients with epilepsy with regard to causality, the spectrum of genetic variants, their pathophysiology, and associated phenotypes. METHODS:We performed massive parallel sequencing of GABRB3 in 416 patient...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000003565

    authors: Møller RS,Wuttke TV,Helbig I,Marini C,Johannesen KM,Brilstra EH,Vaher U,Borggraefe I,Talvik I,Talvik T,Kluger G,Francois LL,Lesca G,de Bellescize J,Blichfeldt S,Chatron N,Holert N,Jacobs J,Swinkels M,Betzler C,Syr

    更新日期:2017-01-31 00:00:00

  • Double-blind comparison of pramipexole and bromocriptine treatment with placebo in advanced Parkinson's disease. International Pramipexole-Bromocriptine Study Group.

    abstract::Pramipexole is a new, selective, nonergoline dopamine agonist that acts on D2 and preferentially on D3 dopamine receptors. Phase II and III clinical trials have shown this drug to be useful in treating both early and advanced Parkinson's disease (PD) patients. A double-blind, randomized, multicenter study was performe...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1212/wnl.49.4.1060

    authors: Guttman M

    更新日期:1997-10-01 00:00:00

  • Optical coherence tomography helps differentiate neuromyelitis optica and MS optic neuropathies.

    abstract:OBJECTIVE:To evaluate the retinal nerve fiber layer (RNFL) thickness and macular volume in neuromyelitis optica (NMO) spectrum patients using optical coherence tomography (OCT). BACKGROUND:OCT can quantify damage to retinal ganglion cell axons and can identify abnormalities in multiple sclerosis and optic neuritis (ON...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e3181af78b8

    authors: Ratchford JN,Quigg ME,Conger A,Frohman T,Frohman E,Balcer LJ,Calabresi PA,Kerr DA

    更新日期:2009-07-28 00:00:00

  • Clinical characteristics of transient ischemic attacks in black patients.

    abstract::We analyzed the clinical, CT, and angiographic findings in 50 black patients with carotid transient ischemic attacks (TIAs). Thirty-two percent had TIAs lasting less than 1 hour, 26% had TIAs lasting 1 to 6 hours, and 42% had TIAs lasting 6 to 24 hours. Fifty-two percent of TIA patients had CT evidence of cerebral inf...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.41.9.1410

    authors: Weisberg LA

    更新日期:1991-09-01 00:00:00

  • Expanding the clinical spectrum of POMT1 phenotype.

    abstract::Mutations in POMT1 have been identified in Walker-Warburg syndrome and in patients with limb-girdle muscular dystrophy and mental retardation (LGMD2K). The authors report new POMT1 mutations in three unrelated children with severe motor impairment, leg hypertrophy, and mental retardation but without brain and ocular m...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000216145.66476.36

    authors: D'Amico A,Tessa A,Bruno C,Petrini S,Biancheri R,Pane M,Pedemonte M,Ricci E,Falace A,Rossi A,Mercuri E,Santorelli FM,Bertini E

    更新日期:2006-05-23 00:00:00

  • Long-lasting conduction block in hereditary neuropathy with liability to pressure palsies.

    abstract::We detected 29 conduction blocks in 12 patients with hereditary neuropathy and liability to pressure palsies. The blocks occurred at entrapment sites, most often the ulnar nerve at the elbow. Some had lasted for several years. This kind of block seems to be characteristic of the neuropathy, and may be related to the l...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.35.11.1639

    authors: Magistris MR,Roth G

    更新日期:1985-11-01 00:00:00

  • Gender, cognitive decline, and risk of AD in older persons.

    abstract:BACKGROUND:Cross-sectional studies suggest gender differences in cognitive function and risk of AD in older persons. However, longitudinal studies comparing change in cognitive function and risk of AD in men and women have had mixed results. The authors investigated gender differences in rate of decline for different c...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000065892.67099.2a

    authors: Barnes LL,Wilson RS,Schneider JA,Bienias JL,Evans DA,Bennett DA

    更新日期:2003-06-10 00:00:00