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1.
BMC Infect Dis ; 24(1): 456, 2024 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-38689220

RESUMO

BACKGROUND: Both sleep-related breathing disorders (SRBDs) and HIV infection can interfere with normal sleep architecture, and also cause physical and psychological distress. We aimed to understand the differences in the obstructive patterns, sleep architecture, physical and psychological distress when compared between people living with HIV (PLWH) and matched the severity of SRBDs controls. METHODS: A comparative study using matched case-control design was conducted. Men with HIV infection (case group) were enrolled from 2016 to 2019. A control group with HIV seronegative men were matched for SRBDs severity, and were selected from sleep medicine center database for comparison. RESULTS: The mean age of the 108 men (including 54 cases and 54 matched controls) was 33.75 years. Central-apnea index (CI) was higher in the case group rather than matched controls (mean CI, 0.34 vs. 0.17, p = 0.049). PLWH had a lower mean percentage of stage 3 sleep (10.26% vs. 13.94%, p = 0.034) and a higher percentage of rapid eye movement sleep (20.59% vs. 17.85%, p = 0.011) compared to matched controls. Nocturnal enuresis and sleepiness causing traffic accidents were more frequent complaint in PLWH compared to controls. CONCLUSIONS: Early detected SRBDs and subtypes in PLWH to begin treatment for the underlying cause could reduce the risk of sleepiness-related traffic accidents.


Assuntos
Infecções por HIV , Polissonografia , Síndromes da Apneia do Sono , Humanos , Masculino , Estudos de Casos e Controles , Adulto , Infecções por HIV/complicações , Infecções por HIV/fisiopatologia , Síndromes da Apneia do Sono/fisiopatologia , Síndromes da Apneia do Sono/diagnóstico , Pessoa de Meia-Idade
2.
Sleep Breath ; 2024 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-39085559

RESUMO

PURPOSE: Phrenic nerve stimulation (PNS) was approved by the Food and Drug Administration (FDA) to treat moderate to severe central sleep apnea. We report here, results of a retrospective study regarding our institutional outcomes at one year. In this study we evaluated the change in the apnea hypopnea index, epworth sleepiness score, and functional outcomes of sleep score at one year post implant. METHODS: This is a retrospective analysis of patients ≥ 18 years of age who had PNS implanted for moderate to severe CSA at the Ohio State University Wexner Medical Center apnea between Feb 1, 2018 to July 1, 2021. Sleep disordered breathing parameters and objective sleepiness as measured by the Epworth Sleepiness Scale (ESS) scores, and Functional Outcomes of Sleep Questionnaire (FOSQ) scores were assessed at baseline and one-year post-implant. RESULTS: Twenty-two patients were implanted with PNS at OSU between February 1, 2018 and May, 31, 2022. The AHI showed a statistically significant decrease from a median of 40 events/hour at baseline to 18 at follow-up (p-value = 0.003). The CAI decreased from 16 events/hour to 2 events/hour (p-value of 0.001). The obstructive apnea index, mixed apnea index, and hypopnea index did not significantly change. The ESS scores had a statistically significant improvement from a median score of 12 to 9 (p-value = 0.028). While the FOSQ showed a trend to improvement from 15.0 to 17.8, it was not statistically significant (p-value of 0.086). CONCLUSION: Our study found that PNS therapy for moderate to severe CSA improves overall AHI and CAI. Objective sleepiness as measured by the ESS also improved at one-year post implant.

3.
Am J Med Genet A ; 191(4): 1026-1037, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36601988

RESUMO

Changes in medical intervention over the last decade have improved outcomes for individuals with trisomy 18, the second most common human aneuploidy syndrome at birth. As children with trisomy 18 live longer, a shared concern of medical experts and parents is the occurrence and treatment of seizures. Previously published surveillance guidelines for this condition have not addressed seizure management. Using parent-reported data collected as part of the Tracking Rare Incidence Syndromes project, we report on the prevalence, course, and management of seizures in individuals with trisomy 18. Twenty-eight percent (52/186) of individuals diagnosed with trisomy 18 in our retrospective cohort experienced generalized, focal, or mixed seizures at some point in their lifetime. For many individuals, seizures were effectively managed by broad-spectrum anti-seizure medications. Correlation analysis showed that focal and generalized seizures were more likely to occur in individuals who had previously experienced infantile spasms or central apnea. Electroencephalogram testing should be considered as part of a standard screening approach in individuals with trisomy 18 to enable early diagnosis and treatment of seizures. An international registry that incorporates parent-reported and clinical data for patients with trisomy 18 may facilitate ongoing research and recruitment into clinical trials for seizure management.


Assuntos
Anticonvulsivantes , Espasmos Infantis , Criança , Recém-Nascido , Humanos , Anticonvulsivantes/uso terapêutico , Síndrome da Trissomía do Cromossomo 18/tratamento farmacológico , Prevalência , Estudos Retrospectivos
4.
Eur Arch Otorhinolaryngol ; 280(12): 5205-5217, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37642712

RESUMO

PURPOSE: To evaluate the effects of adenotonsillectomy on improving central sleep apnea events in children with obstructive sleep apnea (OSA). METHODS: We searched four online databases for relevant articles published from inception until October 2022. We included studies that measured the number of central apnea events per sleep and central apnea-hypopnea index (CAHI) or central apnea index (CAI) scores in children with OSA before and after adenotonsillectomy. Our primary outcomes were changes in CAI scores, the number of central apnea events per sleep, and CAHI scores after surgery. Our secondary outcomes were changes in total and mixed apnea events, improvement of sleep outcomes, and differences in oxygen or carbon dioxide saturation during sleep. We performed meta-analyses by pooling the mean changes of all included studies with a 95% confidence interval using Stata 17. Subsequently, we performed subgroup analyses based on the presence of comorbidities. RESULTS: We included 22 studies comprising 1287 patients. Central and total sleep apnea parameters, except for CAHI and mixed apnea index scores, showed significant improvements after surgery. In addition, all respiratory parameters and second and third stages of non-rapid eye movement sleep showed significant postsurgical improvements. Patients with comorbidities showed significant improvements only in the total apnea-hypopnea index, oxygen desaturation index, and minimal oxygen saturation. CONCLUSION: Adenotonsillectomy improves central apnea events in patients with OSA but not in those with comorbidities.


Assuntos
Apneia do Sono Tipo Central , Apneia Obstrutiva do Sono , Tonsilectomia , Criança , Humanos , Apneia do Sono Tipo Central/etiologia , Adenoidectomia , Apneia Obstrutiva do Sono/complicações , Apneia Obstrutiva do Sono/cirurgia , Oxigênio
5.
Eur J Neurol ; 29(12): 3701-3710, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36057450

RESUMO

BACKGROUND AND PURPOSE: Ictal respiratory disturbances have increasingly been reported, in both generalized and focal seizures, especially involving the temporal lobe. Recognition of ictal breathing impairment has gained importance for the risk of sudden unexpected death in epilepsy (SUDEP). The aim of this study was to evaluate the incidence of ictal apnea (IA) and related hypoxemia during seizures. METHODS: We collected and analyzed electroclinical data from consecutive patients undergoing long-term video-electroencephalographic (video-EEG) monitoring with cardiorespiratory polygraphy. Patients were recruited at the epilepsy monitoring unit of the Civil Hospital of Baggiovara, Modena Academic Hospital, from April 2020 to February 2022. RESULTS: A total of 552 seizures were recorded in 63 patients. IA was observed in 57 of 552 (10.3%) seizures in 16 of 63 (25.4%) patients. Thirteen (81.2%) patients had focal seizures, and 11 of 16 patients showing IA had a diagnosis of temporal lobe epilepsy; two had a diagnosis of frontal lobe epilepsy and three of epileptic encephalopathy. Apnea agnosia was reported in all seizure types. Hypoxemia was observed in 25 of 57 (43.9%) seizures with IA, and the severity of hypoxemia was related to apnea duration. Apnea duration was significantly associated with epilepsy of unknown etiology (magnetic resonance imaging negative) and with older age at epilepsy onset (p < 0.001). CONCLUSIONS: Ictal respiratory changes are a frequent clinical phenomenon, more likely to occur in focal epilepsies, although detected even in patients with epileptic encephalopathy. Our findings emphasize the need for respiratory polygraphy during long-term video-EEG monitoring for diagnostic and prognostic purposes, as well as in relation to the potential link of ictal apnea with the SUDEP risk.


Assuntos
Epilepsia Generalizada , Epilepsia , Morte Súbita Inesperada na Epilepsia , Humanos , Apneia/diagnóstico , Estudos Prospectivos , Eletroencefalografia/métodos , Epilepsia/complicações , Convulsões/diagnóstico , Epilepsia Generalizada/complicações , Hipóxia/complicações
6.
Paediatr Respir Rev ; 43: 78-84, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35459626

RESUMO

Cheyne-Stokes respiration (CSA-CSR) is a form of central sleep apnea characterized by alternating periods of hyperventilation and central apneas or hypopneas. CSA-CSR develops following a cardiac insult resulting in a compensatory increase in sympathetic activity, which in susceptible patients causes hyperventilation and destabilizes respiratory control. The physiological changes that occur in CSA-CSR include hyperventilation, a reduced blood gas buffering capacity, and circulatory delay. In adults, 25% to 50% of patients with heart failure are reported to have CSA-CSR. The development of CSA-CSR in this group of patients is considered a poor prognostic sign. The prevalence, progression, and treatment outcomes of CSA-CSR in children remain unclear with only 11 children being described in the literature. The lack of data is possibly not due to the paucity of children with severe heart failure and CSA-CSR but because they may be under-recognized, compounded by the absence of routine polysomnographic assessment of children with moderate to severe heart failure. Building on much broader experience in the diagnosis and management of CSA-CSR in adult sleep medicine and our limited experience in a pediatric quaternary center, this paper will discuss the prevalence of CSA-CSR, its' treatment options, outcomes in children, and the potential future direction for research in this understudied area of pediatric sleep medicine.


Assuntos
Insuficiência Cardíaca , Apneia do Sono Tipo Central , Adulto , Humanos , Criança , Respiração de Cheyne-Stokes/terapia , Respiração de Cheyne-Stokes/diagnóstico , Respiração de Cheyne-Stokes/etiologia , Hiperventilação/complicações , Apneia do Sono Tipo Central/complicações , Apneia do Sono Tipo Central/terapia , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/terapia , Sono
7.
Childs Nerv Syst ; 38(9): 1813-1816, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-35532779

RESUMO

Purely prepontine arachnoid cysts not extending into the suprasellar region in neonates are rare. Herein, we report a purely prepontine arachnoid cyst in a neonate which caused central apnea and was successfully treated with microscopic cyst fenestration and C1 laminectomy.


Assuntos
Cistos Aracnóideos , Apneia do Sono Tipo Central , Cistos Aracnóideos/complicações , Cistos Aracnóideos/diagnóstico por imagem , Cistos Aracnóideos/cirurgia , Humanos , Recém-Nascido , Laminectomia , Crânio/cirurgia
8.
J Oral Rehabil ; 49(1): 47-53, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34674282

RESUMO

BACKGROUND: Obstructive sleep apnea (OSA) is the most common sleep disorder due mainly to peripheral causes, characterized by repeated episodes of obstruction of the upper airways, associated with arousals and snoring. Sleep bruxism (SB) is a masticatory muscle activity during sleep that is characterized as rhythmic (phasic) or nonrhythmic (tonic) and is not a movement disorder or a sleep disorder in otherwise healthy individuals. Given the potentially severe consequences and complications of apnea, the concurrent high prevalence of SB in daily dental practice, getting deeper into the correlation between these phenomena is worthy of interest.. STUDY OBJECTIVES: The aim of this study was to investigate the correlation between SB-related masseter muscle activity (MMA) and apnea-hypopnea events as well as to assess their temporal sequence. METHODS: Thirty (N = 30) patients with sleep respiratory disorders and clinical suspicion of sleep bruxism (SB) were recruited. Ambulatory polygraphic recording was performed to detect apnea-hypopnea events (AHEs) and sleep bruxism episodes (SBEs). Pearson test was used to assess the correlation between apnea-hypopnea index (AHI) and SB index (SBI). A 5-s time window with respect to the respiratory events was considered to describe the temporal distribution of SBEs. Furthermore, SBI was compared between groups of patients with different AHI severity (i.e., mild, moderate and severe) using ANOVA. RESULTS: On average, AHI was 27.1 ± 21.8 and SBI 9.1 ± 7.5. No correlation was shown between AHI and SBI. Most of SBEs (66.8%) occurred without a temporal relationship with respiratory events. Considering OSA, 65.7% of SBEs occurred within 5 s after AHEs, while in the case of central apnea (CA) 83.8% of SBEs occurred before the respiratory event. The participants with severe apnea (N = 9) show a tendency to have higher bruxism indexes when compared to patients with mild (N = 11) and moderate apnea (N = 10). CONCLUSIONS: Findings suggest that: 1. At the study population level, there is no correlation between AHI and SBI, as well as any temporal relationship between SBEs and respiratory events. 2. Specific patterns of temporal relationship might be identified with future studies focusing on the different types of apnea-hypopnea events and bruxism activities.


Assuntos
Músculo Masseter , Apneia Obstrutiva do Sono , Humanos , Projetos Piloto , Polissonografia , Sono , Apneia Obstrutiva do Sono/complicações
9.
Sleep Breath ; 25(2): 965-977, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-32700287

RESUMO

BACKGROUND: Increased sympathetic drive is the key determinant of systolic heart failure progression, being associated with worse functional status, arrhythmias, and increased mortality. Central sleep apnea is highly prevalent in systolic heart failure, and its effects on sympathovagal balance (SVB) and hemodynamics might depend on relative phase duration and background pathophysiology. OBJECTIVE: This study compared the effects of central apneas in patients with and without systolic heart failure on SVB and hemodynamics during sleep. METHODS: During polysomnography, measures of SVB (heart rate and diastolic blood pressure variability) were non-invasively recorded and analyzed along with baroreceptor reflex sensitivity and hemodynamic parameters (stroke volume index, cardiac index, total peripheral resistance index). Data analysis focused on stable non-rapid eye movement N2 sleep, comparing normal breathing with central sleep apnea in subjects with and without systolic heart failure. RESULTS: Ten patients were enrolled per group. In heart failure patients, central apneas had neutral effects on SVB (all p > 0.05 for the high, low, and very low frequency components of heart rate and diastolic blood pressure variability). Patients without heart failure showed an increase in very low and low frequency components of diastolic blood pressure variability in response to central apneas (63 ± 18 vs. 39 ± 9%; p = 0.001, 43 ± 12 vs. 31 ± 15%; p = 0.002). In all patients, central apneas had neutral hemodynamic effects when analyzed over a period of 10 min, but had significant acute hemodynamic effects. CONCLUSION: Effects of central apneas on SVB during sleep depend on underlying systolic heart failure, with neutral effects in heart failure and increased sympathetic drive in idiopathic central apneas.


Assuntos
Pressão Sanguínea/fisiologia , Insuficiência Cardíaca Sistólica/complicações , Frequência Cardíaca/fisiologia , Hemodinâmica/fisiologia , Apneia do Sono Tipo Central/fisiopatologia , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polissonografia
10.
Neurobiol Dis ; 134: 104628, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31669732

RESUMO

Cardiorespiratory dysfunction during or after seizures may contribute to sudden unexpected death in epilepsy. Disruption of lower brainstem cardiorespiratory systems by seizures is postulated to impair respiratory and cardiac function. Here, we explore the effects of brainstem seizures and stimulation on cardiorespiratory function using a rat model of intrahippocampal 4-aminopyridine (4-AP)-induced acute recurrent seizures. Cardiac and respiratory monitoring together with local field potential recordings from hippocampus, contralateral parietal cortex and caudal dorsomedial brainstem, were conducted in freely moving adult male Wistar rats. Seizures were induced by intrahippocampal injection of 4-AP. Increased respiratory rate but unchanged heart rate occurred during hippocampal and secondarily generalized cortical seizures. Status epilepticus without brainstem seizures increased respiratory and heart rates, whereas status epilepticus with intermittent brainstem seizures induced repeated episodes of cardiorespiratory depression leading to death. Respiratory arrest occurred prior to asystole which was the terminal event. Phenytoin (100 mg/kg, intraperitoneal injection), administered after 4-AP intrahippocampal injection, terminated brainstem seizures and the associated cardiorespiratory depression, preventing death in five of six rats. Focal electrical stimulation of the caudal dorsomedial brainstem also suppressed cardiorespiratory rates. We conclude that in our model, brainstem seizures were associated with respiratory depression followed by cardiac arrest, and then death. We hypothesize this model shares mechanisms in common with the classic sudden unexpected death in epilepsy (SUDEP) syndrome associated with spontaneous seizures.


Assuntos
Tronco Encefálico/fisiopatologia , Frequência Cardíaca/fisiologia , Insuficiência Respiratória/fisiopatologia , Convulsões/fisiopatologia , Morte Súbita Inesperada na Epilepsia , Animais , Modelos Animais de Doenças , Eletroencefalografia , Masculino , Ratos , Ratos Wistar
11.
Epilepsy Behav ; 112: 107434, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32916581

RESUMO

OBJECTIVE: The objective of the study was to examine the frequency and characteristics of ictal central apnea (ICA) in a selective cohort of patients with mesial or neocortical temporal lobe epilepsy (TLE) undergoing surface video-electroencephalography (EEG) and multimodal recording of cardiorespiratory parameters. METHODS: We retrospectively screened 453 patients who underwent EEG in a single center including nasal airflow measurements, respiratory inductance plethysmography of thoracoabdominal excursions, peripheral capillary oxygen saturation, and electrocardiography. Patients with confirmed TLE subtype, either by magnetic resonance imaging (MRI) lesions limited to the temporal neocortex or mesial structures and concordant neurophysiologic data, or patients who underwent invasive explorations were included. RESULTS: Ictal central apnea frequency and characteristics were analyzed in 41 patients with 164 seizures that had multimodal respiratory monitoring. The total occurrence of ICA in all seizures in this cohort was 79.9%. No significant difference was seen between mesial and neocortical temporal lobe seizures (79.8% and 80.0%, respectively). Ictal central apnea preceded EEG onset by 13 ±â€¯11 s in 33.3% of seizures and was the first clinical sign by 18 ±â€¯14 s in 48.7%. Longer ICA duration trended towards a more severe degree of hypoxemia. CONCLUSIONS: In a selective cohort of TLE defined by MRI lesion and/or intracranial recordings, the frequency of ICA was higher than previously reported in the literature. Multimodal respiratory monitoring has localizing value and is generally well tolerated. Ictal central apnea preceded both EEG on scalp recordings as well as clinical seizure onset in a substantial number of patients. Respiratory monitoring and ICA detection is even more paramount during invasive monitoring to confirm that the recorded seizure onset is seen before the first clinical sign.


Assuntos
Epilepsia do Lobo Temporal , Apneia do Sono Tipo Central , Eletroencefalografia , Epilepsia do Lobo Temporal/complicações , Epilepsia do Lobo Temporal/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Estudos Retrospectivos , Convulsões
12.
Proc Natl Acad Sci U S A ; 114(6): 1413-1418, 2017 02 07.
Artigo em Inglês | MEDLINE | ID: mdl-28115703

RESUMO

Sleep apnea, which is the periodic cessation of breathing during sleep, is a major health problem affecting over 10 million people in the United States and is associated with several sequelae, including hypertension and stroke. Clinical studies suggest that abnormal carotid body (CB) activity may be a driver of sleep apnea. Because gaseous molecules are important determinants of CB activity, aberrations in their signaling could lead to sleep apnea. Here, we report that mice deficient in heme oxygenase-2 (HO-2), which generates the gaseous molecule carbon monoxide (CO), exhibit sleep apnea characterized by high apnea and hypopnea indices during rapid eye movement (REM) sleep. Similar high apnea and hypopnea indices were also noted in prehypertensive spontaneously hypertensive (SH) rats, which are known to exhibit CB hyperactivity. We identified the gaseous molecule hydrogen sulfide (H2S) as the major effector molecule driving apneas. Genetic ablation of the H2S-synthesizing enzyme cystathionine-γ-lyase (CSE) normalized breathing in HO-2-/- mice. Pharmacologic inhibition of CSE with l-propargyl glycine prevented apneas in both HO-2-/- mice and SH rats. These observations demonstrate that dysregulated CO and H2S signaling in the CB leads to apneas and suggest that CSE inhibition may be a useful therapeutic intervention for preventing CB-driven sleep apnea.


Assuntos
Monóxido de Carbono/metabolismo , Gasotransmissores/metabolismo , Sulfeto de Hidrogênio/metabolismo , Síndromes da Apneia do Sono/metabolismo , Animais , Corpo Carotídeo/metabolismo , Corpo Carotídeo/fisiopatologia , Cistationina gama-Liase/genética , Cistationina gama-Liase/metabolismo , Feminino , Heme Oxigenase (Desciclizante)/genética , Heme Oxigenase (Desciclizante)/metabolismo , Masculino , Camundongos Endogâmicos C57BL , Camundongos Knockout , Ratos Endogâmicos SHR , Ratos Endogâmicos WKY , Respiração/genética , Síndromes da Apneia do Sono/genética , Síndromes da Apneia do Sono/fisiopatologia
13.
J Med Internet Res ; 22(5): e17252, 2020 05 22.
Artigo em Inglês | MEDLINE | ID: mdl-32441656

RESUMO

BACKGROUND: Sleep apnea is a respiratory disorder characterized by an intermittent reduction (hypopnea) or cessation (apnea) of breathing during sleep. Depending on the presence of a breathing effort, sleep apnea is divided into obstructive sleep apnea (OSA) and central sleep apnea (CSA) based on the different pathologies involved. If the majority of apneas in a person are obstructive, they will be diagnosed as OSA or otherwise as CSA. In addition, as it is challenging and highly controversial to divide hypopneas into central or obstructive, the decision about sleep apnea type (OSA vs CSA) is made based on apneas only. Choosing the appropriate treatment relies on distinguishing between obstructive apnea (OA) and central apnea (CA). OBJECTIVE: The objective of this study was to develop a noncontact method to distinguish between OAs and CAs. METHODS: Five different computer vision-based algorithms were used to process infrared (IR) video data to track and analyze body movements to differentiate different types of apnea (OA vs CA). In the first two methods, supervised classifiers were trained to process optical flow information. In the remaining three methods, a convolutional neural network (CNN) was designed to extract distinctive features from optical flow and to distinguish OA from CA. RESULTS: Overnight sleeping data of 42 participants (mean age 53, SD 15 years; mean BMI 30, SD 7 kg/m2; 27 men and 15 women; mean number of OA 16, SD 30; mean number of CA 3, SD 7; mean apnea-hypopnea index 27, SD 31 events/hour; mean sleep duration 5 hours, SD 1 hour) were collected for this study. The test and train data were recorded in two separate laboratory rooms. The best-performing model (3D-CNN) obtained 95% accuracy and an F1 score of 89% in differentiating OA vs CA. CONCLUSIONS: In this study, the first vision-based method was developed that differentiates apnea types (OA vs CA). The developed algorithm tracks and analyses chest and abdominal movements captured via an IR video camera. Unlike previously developed approaches, this method does not require any attachment to a user that could potentially alter the sleeping condition.


Assuntos
Aprendizado Profundo/normas , Polissonografia/métodos , Apneia do Sono Tipo Central/diagnóstico , Apneia Obstrutiva do Sono/diagnóstico , Espectrofotometria Infravermelho/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Apneia do Sono Tipo Central/fisiopatologia , Apneia Obstrutiva do Sono/fisiopatologia
14.
Genet Med ; 21(2): 459-463, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-29872110

RESUMO

PURPOSE: To examine results of magnetic resonance imaging (MRI), polysomnograms (PSG), and patient outcomes in patients with achondroplasia in light of recent screening recommendations for infants with achondroplasia. METHODS: We reviewed medical records of 49 patients with achondroplasia followed at our institution between September 1997 and January 2017, including physical exams, MRIs, PSGs (when available), and surgical histories. Appropriate PSG data were available for 39 of these patients. RESULTS: Twenty-seven of 49 patients had cervical cord compression on MRI, and 20 of those patients required surgery. Central apnea was detected in 2/23 patients with cervical cord compression in whom PSG data was available. Physical exam revealed depressed deep-tendon reflexes in two patients with cord compression and one patient without cord compression. Besides hypotonia in some, the neurological exams of these patients were unremarkable. CONCLUSIONS: Cervical cord compression is a common occurrence in infants with achondroplasia and necessitates surgical intervention in some patients. Physical exam and PSG are poor predictors of the presence of cord compression or the need for surgery. All infants with achondroplasia should have MRIs of the craniocervical junction in the first 6 months of life.


Assuntos
Acondroplasia/complicações , Testes Diagnósticos de Rotina , Neuroimagem , Compressão da Medula Espinal/etiologia , Acondroplasia/diagnóstico , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Prontuários Médicos , Compressão da Medula Espinal/diagnóstico
15.
Epilepsy Behav ; 98(Pt A): 73-79, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31301453

RESUMO

OBJECTIVE: Ictal (ICA) and postconvulsive central apnea (PCCA) have been implicated in sudden unexpected death in epilepsy (SUDEP) pathomechanisms. Previous studies suggest that serotonin reuptake inhibitors (SRIs) and benzodiazepines (BZDs) may influence breathing. The aim of this study was to investigate if chronic use of these drugs alters central apnea occurrence in patients with epilepsy. METHODS: Patients with epilepsy admitted to epilepsy monitoring units (EMUs) in nine centers participating in a SUDEP study were consented. Polygraphic physiological parameters were analyzed, including video-electroencephalography (VEEG), thoracoabdominal excursions, and pulse oximetry. Outpatient medication details were collected. Patients and seizures were divided into SRI, BZD, and control (no SRI or BZD) groups. Ictal central apnea and PCCA, hypoxemia, and electroclinical features were assessed for each group. RESULTS: Four hundred and seventy-six seizures were analyzed (204 patients). The relative risk (RR) for ICA in the SRI group was half that of the control group (p = 0.02). In the BZD group, ICA duration was significantly shorter than in the control group (p = 0.02), as was postictal generalized EEG suppression (PGES) duration (p = 0.021). Both SRI and BZD groups were associated with smaller seizure-associated oxygen desaturation (p = 0.009; p ≪ 0.001). Neither presence nor duration of PCCA was significantly associated with SRI or BZD (p ≫ 0.05). CONCLUSIONS: Seizures in patients taking SRIs have lower occurrence of ICA, and patients on chronic treatment with BZDs have shorter ICA and PGES durations. Preventing or shortening ICA duration by using SRIs and/or BZD in patients with epilepsy may play a possible role in SUDEP risk reduction.


Assuntos
Benzodiazepinas/uso terapêutico , Epilepsia/tratamento farmacológico , Hipóxia/tratamento farmacológico , Convulsões/tratamento farmacológico , Inibidores Seletivos de Recaptação de Serotonina/uso terapêutico , Apneia do Sono Tipo Central/tratamento farmacológico , Adolescente , Adulto , Idoso , Estudos de Coortes , Eletroencefalografia/métodos , Epilepsia/fisiopatologia , Feminino , Humanos , Hipóxia/fisiopatologia , Masculino , Pessoa de Meia-Idade , Oximetria/métodos , Estudos Prospectivos , Convulsões/fisiopatologia , Apneia do Sono Tipo Central/fisiopatologia , Morte Súbita Inesperada na Epilepsia/prevenção & controle , Adulto Jovem
16.
Pediatr Neurosurg ; 54(4): 288-292, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31291634

RESUMO

Cerebral sinovenous thrombosis (CSVT) is a rare but not a negligible complication in pediatric brain tumor. An 11-year-old male with suprasellar germ cell tumor developed treatment-related vascular complications of CSVT and subdural hematoma. The underlying mechanism of CSVT was attributed to multiple risk factors, such as adipsic diabetes insipidus, obesity, central apnea, and chemotherapy-induced endothelial injury. In an attempt to minimize the possible risk of vascular complications, including late effect in pediatric brain tumors, we would like to stress the importance of individualized supportive therapy, i.e., hormone replacement, fluid management, thromboprophylaxis, and bi-level positive airway pressure therapy.


Assuntos
Diabetes Insípido/complicações , Germinoma/complicações , Hematoma Subdural/complicações , Neoplasias Hipofisárias/complicações , Trombose dos Seios Intracranianos/complicações , Anticoagulantes , Criança , Tratamento Farmacológico , Germinoma/diagnóstico , Hematoma Subdural/terapia , Humanos , Masculino , Obesidade/complicações , Trombose dos Seios Intracranianos/terapia
17.
Childs Nerv Syst ; 33(5): 829-832, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28382434

RESUMO

INTRODUCTION: Type I is the most common Chiari malformation in children. In this condition, the lower part of the cerebellum, but not the brain stem, extends into the foramen magnum at the base of the skull leading to intermittent brain hypertension. In symptomatic children, central sleep apneas are shown in polysomnography evaluation. A central apnea index of 1/h or more is considered abnormal, but >5/h is clearly considered pathological. Therefore, central sleep apnea evaluation in pediatric age may show great age-related variability. METHOD AND SUBJECTS: We present three patients who were assessed by polysomnography with two different scores for central sleep apneas published in the literature: the method by Scholle (2011) and the American Academy of Sleep Medicine scoring system (2012). CONCLUSIONS: We speculated that the Scholle scoring system can be more helpful in assessing children with asymptomatic Chiari 1 malformation for a closer follow-up. More studies are needed.


Assuntos
Malformação de Arnold-Chiari/complicações , Malformação de Arnold-Chiari/diagnóstico por imagem , Doenças Assintomáticas , Apneia do Sono Tipo Central/complicações , Apneia do Sono Tipo Central/diagnóstico por imagem , Criança , Pré-Escolar , Feminino , Humanos , Masculino
18.
Sleep Breath ; 20(1): 237-42, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26070534

RESUMO

BACKGROUND: Bilateral paramedian thalamic stroke is characterized by hypersomnia, vertical gaze palsy, amnestic alteration, and apathic state. Combined lesion of the paramedian thalamus and mesencephalon bilaterally is extremely rare. Little is known about the breathing disturbances of the particular region due to the lesion. The following describes the specific case of a woman, age 62, with bilateral paramedian thalamic and mesencephalic stroke. Initially, the patient's complaints exhibited altered vigilance and vertical gaze palsy. Notably, following the acute phase, fluctuating hypersomnia was detected. The MRI (brain) revealed an ischemic lesion in the medial part of the mesencephalon and paramedian thalamus, bilaterally. AIMS: The aim of the present study is to elucidate the involvement and characteristics of sleep-related breathing abnormalities in the clinical manifestation of the combined paramedian thalamic and mesencephalic stroke. METHODS: Polysomnographic recordings were accomplished seven times with 1-week interval between the consecutive recordings, toward investigating the early changes of sleep and sleep-related breathing abnormalities. RESULTS: Sleep structure examination featured a decrease in N3 and REM ratio and an increase in N1 and N2 ratio with minimal improvement during the recovery period. In contrast, significant changes were found in the breathing pattern: the initial central apnea dominance was followed by obstructive apneas with a gradual decrease of the total pathological respiratory events. CONCLUSION: In addition to the structural abnormality of the sleep regulating network, sleep-disordered breathing is another possible cause of hypersomnia in patients afflicted with the present localization of the lesion.


Assuntos
Dominância Cerebral/fisiologia , Mesencéfalo/fisiopatologia , Síndromes da Apneia do Sono/diagnóstico , Síndromes da Apneia do Sono/fisiopatologia , Acidente Vascular Cerebral/fisiopatologia , Doenças Talâmicas/fisiopatologia , Tálamo/fisiopatologia , Nível de Alerta/fisiologia , Comorbidade , Distúrbios do Sono por Sonolência Excessiva/diagnóstico , Distúrbios do Sono por Sonolência Excessiva/fisiopatologia , Feminino , Seguimentos , Humanos , Pessoa de Meia-Idade , Oftalmoplegia/diagnóstico , Oftalmoplegia/fisiopatologia , Polissonografia
19.
Am J Physiol Lung Cell Mol Physiol ; 308(9): L922-30, 2015 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-25747962

RESUMO

Rat pups prenatally exposed to nicotine (PNE) present apneic (lethal ventilatory arrest) responses during severe hypoxia. To clarify whether these responses are of central origin, we tested PNE effects on ventilation and diaphragm electromyography (EMGdi) during hypoxia in conscious rat pups. PNE produced apnea (lethal ventilatory arrest) identical to EMGdi silencing during hypoxia, indicating a central origin of this apneic response. We further asked whether PNE would sensitize bronchopulmonary C-fibers (PCFs), a key player in generating central apnea, with increase of the density and transient receptor potential cation channel subfamily V member 1 (TRPV1) expression of C-fibers/neurons in the nodose/jugular (N/J) ganglia and neurotrophic factors in the airways and lungs. We compared 1) ventilatory and pulmonary C-neural responses to right atrial bolus injection of capsaicin (CAP, 0.5 µg/kg), 2) bronchial substance P-immunoreactive (SP-IR) fiber density, 3) gene and protein expressions of TRPV1 in the ganglia, and 4) nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF) protein in bronchoalveolar lavage fluid (BALF) and TrkA and TrkB genes in the ganglia between control and PNE pups. PNE markedly strengthened the PCF-mediated apneic response to CAP via increasing pulmonary C-neural sensitivity. PNE also enhanced bronchial SP-IR fiber density and N/J ganglia neural TRPV1 expression associated with increased gene expression of TrkA in the N/G ganglia and decreased NGF and BDNF in BALF. Our results suggest that PNE enhances PCF sensitivity likely through increasing PCF density and TRPV1 expression via upregulation of neural TrkA and downregulation of pulmonary BDNF, which may contribute to the PNE-promoted central apnea (lethal ventilatory arrest) during hypoxia.


Assuntos
Apneia/induzido quimicamente , Nicotina/farmacologia , Efeitos Tardios da Exposição Pré-Natal , Fumar/efeitos adversos , Morte Súbita do Lactente/etiologia , Animais , Fator Neurotrófico Derivado do Encéfalo/biossíntese , Fator Neurotrófico Derivado do Encéfalo/genética , Líquido da Lavagem Broncoalveolar/química , Capsaicina/farmacologia , Diafragma/fisiopatologia , Eletromiografia , Feminino , Gânglios/citologia , Gânglios/metabolismo , Humanos , Hipóxia , Recém-Nascido , Masculino , Cloreto de Metacolina/farmacologia , Fibras Nervosas Amielínicas/efeitos dos fármacos , Fibras Nervosas Amielínicas/metabolismo , Fator de Crescimento Neural/biossíntese , Fator de Crescimento Neural/genética , Gânglio Nodoso/metabolismo , Gravidez , Distribuição Aleatória , Ratos , Ratos Sprague-Dawley , Receptor trkA/genética , Receptor trkB/genética , Proteínas Recombinantes , Fármacos do Sistema Sensorial/farmacologia , Substância P/imunologia , Canais de Cátion TRPV/biossíntese , Canais de Cátion TRPV/genética
20.
Sleep Med Rev ; 75: 101944, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38718707

RESUMO

Catathrenia is a loud expiratory moan during sleep that is a social embarrassment and is sometimes confused with central apnea on polysomnography. It affects about 4% of adults, but cases are rarely referred to sleep centers. Catathrenia affects males and females, children and adults, who are usually young and thin. A "typical" catathrenia begins with a deep inhalation, followed by a long, noisy exhalation, then a short, more pronounced exhalation, followed by another deep inhalation, often accompanied by arousal. The many harmonics of the sound indicate that it is produced by the vocal cords. It is often repeated in clusters, especially during REM sleep and at the end of the night. It does not disturb the sleepers, but their neighbors, and is associated with excessive daytime sleepiness in one-third of cases. The pathophysiology and treatment of typical catathrenia are still unknown. Later, a more atypical catathrenia was described, consisting of episodes of short (2 s), regular, semi-continuous expiratory moans during NREM sleep (mainly in stages N1 and N2) and REM sleep, often in people with mild upper airway obstruction. This atypical catathrenia is more commonly reduced by positive airway pressure and mandibular advancement devices that promote vertical opening.


Assuntos
Polissonografia , Adulto , Criança , Feminino , Humanos , Masculino , Parassonias/fisiopatologia , Sons Respiratórios , Apneia do Sono Tipo Central/fisiopatologia , Apneia do Sono Tipo Central/terapia , Fases do Sono/fisiologia , Sono REM/fisiologia
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