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[PMID]: 29329111
[Au] Autor:Kim Y; Bravo E; Thirnbeck CK; Smith-Mellecker LA; Kim SH; Gehlbach BK; Laux LC; Zhou X; Nordli DR; Richerson GB
[Ad] Address:Department of Neurology and.
[Ti] Title:Severe peri-ictal respiratory dysfunction is common in Dravet syndrome.
[So] Source:J Clin Invest;128(3):1141-1153, 2018 Mar 01.
[Is] ISSN:1558-8238
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Dravet syndrome (DS) is a severe childhood-onset epilepsy commonly due to mutations of the sodium channel gene SCN1A. Patients with DS have a high risk of sudden unexplained death in epilepsy (SUDEP), widely believed to be due to cardiac mechanisms. Here we show that patients with DS commonly have peri-ictal respiratory dysfunction. One patient had severe and prolonged postictal hypoventilation during video EEG monitoring and died later of SUDEP. Mice with an Scn1aR1407X/+ loss-of-function mutation were monitored and died after spontaneous and heat-induced seizures due to central apnea followed by progressive bradycardia. Death could be prevented with mechanical ventilation after seizures were induced by hyperthermia or maximal electroshock. Muscarinic receptor antagonists did not prevent bradycardia or death when given at doses selective for peripheral parasympathetic blockade, whereas apnea, bradycardia, and death were prevented by the same drugs given at doses high enough to cross the blood-brain barrier. When given via intracerebroventricular infusion at a very low dose, a muscarinic receptor antagonist prevented apnea, bradycardia, and death. We conclude that SUDEP in patients with DS can result from primary central apnea, which can cause bradycardia, presumably via a direct effect of hypoxemia on cardiac muscle.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:In-Data-Review

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[PMID]: 29517426
[Au] Autor:Ølberg RA; Sinclair M; Barker IK; Crawshaw G
[Ti] Title:COMPARISON OF INTRAMUSCULAR FENTANYL-MIDAZOLAM, FENTANYL-MIDAZOLAM-KETAMINE, AND KETAMINE-MEDETOMIDINE FOR IMMOBILIZATION OF JAPANESE MACAQUES ( MACACA FUSCATA).
[So] Source:J Zoo Wildl Med;49(1):99-107, 2018 Mar.
[Is] ISSN:1042-7260
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The combination of fentanyl and midazolam is commonly used as a sedative in humans. The objective of this study was to evaluate the sedative properties and physiological effects of fentanyl-midazolam and fentanyl-midazolam-ketamine compared with medetomidine-ketamine given intramuscularly in Japanese macaques ( Macaca fuscata). In a randomized crossover design, eight Japanese macaques were hand-injected with either 30 µg/kg fentanyl + 0.3 mg/kg midazolam (FM), 15 µg/kg fentanyl + 0.3 mg/kg midazolam + 5.0 mg/kg ketamine (FMK), or 0.05 mg/kg medetomidine + 5.0 mg/kg ketamine (MedK). Heart rate; indirect systolic, mean, and diastolic arterial pressure; respiratory rate; blood gas concentrations; rectal temperature; and duration of immobilization were recorded. Mixed linear models were used to evaluate the effects of drug treatment on all continuous variables, with a significance level of P < 0.05. Only three of seven animals receiving FM were successfully immobilized. All eight animals in both the FMK and MedK treatment groups had a rapid, smooth induction and were successfully immobilized. Both FMK and MedK treatments resulted in significant hypoxia and the animals required supplemental oxygen via face mask. The mean duration of FMK immobilization was 42 ± 10 min, significantly shorter than the 65 ± 14 min for the animals receiving MedK. Immobilization with MedK resulted in significantly lower heart rates, and significantly higher arterial pressure compared with FMK. Hypoventilation was significantly more pronounced in FMK-treated animals compared with MedK treatments. Immobilization with FMK resulted in a gradual, slow recovery whereas MedK-treated animals woke up more rapidly. Fentanyl-midazolam alone is not a useful sedative in Japanese macaques. A combination of fentanyl and midazolam with ketamine can be used as an alternative to medetomidine-ketamine in this species.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1638/2017-0043R.1

  3 / 6271 MEDLINE  
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[PMID]: 29351818
[Au] Autor:Wang A; Kun S; Diep B; Davidson Ward SL; Keens TG; Perez IA
[Ad] Address:Keck School of Medicine of USC, University of Southern California, Los Angeles, California.
[Ti] Title:Obstructive Sleep Apnea in Patients With Congenital Central Hypoventilation Syndrome Ventilated by Diaphragm Pacing Without Tracheostomy.
[So] Source:J Clin Sleep Med;14(2):261-264, 2018 Feb 15.
[Is] ISSN:1550-9397
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:STUDY OBJECTIVES: To determine presence of obstructive sleep apnea (OSA) in patients with congenital central hypoventilation syndrome (CCHS) ventilated by diaphragm pacing (DP) without tracheostomy, and to determine if OSA can be improved by DP setting changes. METHODS: We reviewed polysomnography (PSG) results of 15 patients with CCHS from October 2001 to April 2014, age 15.4 ± 7.8 years, body mass index 22.0 ± 6.0 kg/m , and 60% female. RESULTS: Of the 22 PSG results obtained for the 15 patients with CCHS, 9 were performed with tracheostomy capped, and 13 were performed after patients underwent decannulation. OSA was present on 6 of 9 tests in patients with tracheostomy capped, including 3 patients with immediate, severe OSA necessitating that the studies be completed with tracheostomy uncapped. OSA was present on 2 of 13 tests in patients in whom decannulation had been performed. Hypoventilation was seen on only one test without OSA. On 2 of 5 tests showing OSA, OSA improved by decreasing DP amplitude settings; apnea-hypopnea index decreased from 11.1 ± 2.5 to 1.8 ± 2.5 events/h; PETCO decreased from 57.5 ± 3.5 to 38.5 ± 0.7 torr; SpO increased from 76.5 ± 0.7% to 93.0 ± 7.1%. OSA improved in one patient with slight increase in respiratory rate. Settings were manipulated in 4 tests showing OSA; no changes were attempted in the remaining study. One patient was placed on bilevel positive airway pressure with temporary suspension of DP. Age ( < .119), previous adenotonsillectomy ( < .211), and body mass index ( < .112) did not significantly contribute to OSA. CONCLUSIONS: OSA occurs in patients with CCHS ventilated by DP. However, decreasing DP amplitude settings can lessen upper airway obstruction without compromising gas exchange.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.5664/jcsm.6948

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[PMID]: 29294134
[Au] Autor:Ghergan A; Coupaye M; Leu-Semenescu S; Attali V; Oppert JM; Arnulf I; Poitou C; Redolfi S
[Ad] Address:Assistance Publique-Hôpitaux de Paris (AP-HP), Groupe Hospitalier Pitié-Salpêtrière Charles Foix, Service de Pathologies du Sommeil (Département R3S) et Centre de Référence National pour Narcolepsie, Hypersomnie et Syndrome de Kleine-Levin, Paris, France.
[Ti] Title:Prevalence and Phenotype of Sleep Disorders in 60 Adults With Prader-Willi Syndrome.
[So] Source:Sleep;40(12), 2017 Dec 01.
[Is] ISSN:1550-9109
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Study Objectives: Excessive sleepiness is a common symptom in Prader-Willi syndrome (PWS), and it negatively impacts the quality of life. Obstructive sleep apnea and narcolepsy phenotypes have been reported in PWS. We characterized sleep disorders in a large cohort of adults with PWS. Methods: All consecutive patients with genetically confirmed PWS unselected for sleep-related symptoms, underwent a clinical interview, polysomnography, and multiple sleep latency tests (MSLT, n = 60), followed by long-term (24 hours) polysomnography (n = 22/60). Results: Among 60 adults evaluated (57% female, aged 25 ± 10 years, body mass index: 39 ± 12 kg/m2), 67% reported excessive sleepiness. According to the sleep study results, 43% had a previously unrecognized hypersomnia disorder, 15% had an isolated sleep breathing disorder, 12% had combined hypersomnia disorder and untreated breathing sleep disorder, and only 30% had normal sleep. Isolated hypersomnia disorder included narcolepsy in 35% (type 1, n = 1, and type 2, n = 8), hypersomnia in 12% (total sleep time >11 hours, n = 2, and MSLT <8 minutes, n = 1), and borderline phenotype in 53% (≥2 sleep onset in REM periods and MSLT >8 minutes, n = 10, and 8 minutes < MSLT < 10 minutes, n = 4). Sleep breathing disorders, isolated and combined, included obstructive sleep apnea (n = 14, already treated in seven), sleep hypoxemia (n = 1) and previously undiagnosed hypoventilation (n = 5). Modafinil was taken by 16 patients (well tolerated in 10), resulting in improved sleepiness over a mean 5-year follow-up period. Conclusion: Sleepiness affects more than half of adult patients with PWS, with a variety of hypersomnia disorder (narcolepsy, hypersomnia, and borderline phenotypes) and breathing sleep disorders. Earlier diagnosis and management of sleep disorders may improve sleepiness, cognition, and behavior in these patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:In-Data-Review
[do] DOI:10.1093/sleep/zsx162

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[PMID]: 28453783
[Au] Autor:Ferré Á; Poca MA; de la Calzada MD; Moncho D; Romero O; Sampol G; Sahuquillo J
[Ad] Address:Clinical Neurophysiology Department, Barcelona, Spain.
[Ti] Title:Sleep-Related Breathing Disorders in Chiari Malformation Type 1: A Prospective Study of 90 Patients.
[So] Source:Sleep;40(6), 2017 Jun 01.
[Is] ISSN:1550-9109
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Study objective: The aim of the present study is to describe the prevalence of sleep disorders in a large group of patients with Chiari malformation type 1 (CM-1) and determine the presence of risk factors associated with these abnormalities. Methods: Prospective study with consecutive patient selection. We included 90 adult patients with CM-1, defined by the presence of a cerebellar tonsillar descent (TD) ≥3 mm. Clinical, neuroradiological studies, and nocturnal polysomnography (PSG) was carried out. In addition, patients were also subclassified into 2 CM subtypes: CM-1, with the obex above the foramen magnum (FM) and CM-1.5, in which along with a TD ≥3 mm, the obex was located below the FM. Results: We observed a high prevalence (50%) of sleep-related breathing disorders (SRBDs) with predominant hypopnea. Only six patients showed a central apnea index of ≥5. Hypoventilation was observed in only three patients. SRBD severity was associated with male sex, older age, excess weight, and the presence of hydrocephalus. No differences in clinical or PSG parameters were found when comparing CM subtypes (CM-1 and CM-1.5). Sleep architecture study showed decreased sleep efficiency with an increase in arousal and waking after sleep onset. The presence of SRBDs was found to be associated with poorer sleep architecture parameters. Conclusions: This study confirms a high prevalence of SRBDs in patients with CM-1 and CM-1.5, with a predominant obstructive component. Nocturnal PSG recordings should be systematically conducted in these patients, especially those who are male, older, or overweight or those who present hydrocephalus.
[Mh] MeSH terms primary: Arnold-Chiari Malformation/epidemiology
Dyssomnias/epidemiology
Dyssomnias/physiopathology
[Mh] MeSH terms secundary: Adult
Age Distribution
Arnold-Chiari Malformation/classification
Arousal
Female
Humans
Hydrocephalus/epidemiology
Hypoventilation/epidemiology
Male
Overweight/epidemiology
Polysomnography
Prevalence
Prospective Studies
Risk Factors
Sex Characteristics
Sleep Apnea Syndromes/epidemiology
Sleep Apnea Syndromes/physiopathology
Wakefulness
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[Js] Journal subset:IM
[Da] Date of entry for processing:170429
[St] Status:MEDLINE
[do] DOI:10.1093/sleep/zsx069

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[PMID]: 29210305
[Au] Autor:Trucco F; Pedemonte M; Fiorillo C; Tan HL; Carlucci A; Brisca G; Tacchetti P; Bruno C; Minetti C
[Ti] Title:Detection of early nocturnal hypoventilation in neuromuscular disorders.
[So] Source:J Int Med Res;46(3):1153-1161, 2018 Mar.
[Is] ISSN:1473-2300
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Objective Nocturnal hypoventilation (NH) is a complication of respiratory involvement in neuromuscular disorders (NMD) that can evolve into symptomatic daytime hypercapnia if not treated proactively with non-invasive ventilation. This study aimed to assess whether NH can be detected in the absence of other signs of nocturnal altered gas exchange. Methods We performed nocturnal transcutaneous coupled (tc) pCO /SpO monitoring in 46 consecutive cases of paediatric-onset NMD with a restrictive respiratory defect (forced vital capacity < 60%). Nocturnal hypoventilation was defined as tcPCO > 50 mmHg for > 25% of recorded time, and hypoxemia as tcSpO < 88% for > 5 minutes. Daytime symptoms and bicarbonate were recorded after overnight monitoring. Results Twenty-nine of 46 consecutive patients showed NH. Twenty-three patients did not have nocturnal hypoxemia and 18 were clinically asymptomatic. In 20 patients, PaCO in daytime blood samples was normal. Finally, 13/29 patients with NH had isolated nocturnal hypercapnia without nocturnal hypoxia, clinical NH symptoms, or daytime hypercapnia. Conclusions Paediatric patients with NMD can develop NH in the absence of clinical symptoms or significant nocturnal desaturation. Therefore, monitoring of NH should be included among nocturnal respiratory assessments of these patients as an additional tool to determine when to commence non-invasive ventilation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:In-Process
[do] DOI:10.1177/0300060517728857

  7 / 6271 MEDLINE  
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[PMID]: 29501436
[Au] Autor:Hidalgo Carvajal R; Sánchez Casado M; de Miguel-Díez J; López Gabaldón E
[Ad] Address:Servicio de Neumología, Hospital Virgen de la Salud, Toledo, España. Electronic address: rhcarvajal@hotmail.com.
[Ti] Title:El buen control oximétrico nocturno mantenido se relaciona con la situación clínica, gasométrica y el pronóstico de los pacientes con ventilación mecánica no invasiva domiciliaria. Beneficial effect of nocturnal oximetric control on the clinical and gasometric situation and the prognosis of patients with home non-invasive mechanical ventilation.
[So] Source:Med Clin (Barc);, 2018 Feb 28.
[Is] ISSN:1578-8989
[Cp] Country of publication:Spain
[La] Language:eng; spa
[Ab] Abstract:INTRODUCTION AND OBJECTIVE: The effectiveness of home non-invasive mechanical ventilation (NIMV) is assessed by determining blood gas values in wakefulness, the evolution of their symptoms, and the monitoring of ventilation at night. The aim of our study is to evaluate whether defined values reached with outpatient monitoring by oximetry is related to the clinical, arterial gases and survival of a sample of patients with home NIMV. MATERIAL AND METHOD: Retrospective observational cohort study of a series of patients receiving home NIMV treatment for different causes. Patients with amyotrophic lateral sclerosis and less than 3 months of follow-up were excluded. The evolution of the patient's symptoms, their baseline arterial blood gases in wakefulness, and home nocturnal oximetry records, are evaluated at each outpatient visit. Good maintained oximetry control (MOC) was defined when mean O2 saturation values were reached and maintained until the last revision. Patient groups were considered, according to whether or not a good MOC was achieved during follow-up. RESULT: Four hundred patients were evaluated. Three hundred and sixty four (91%) were included in the study; their median age was 68 years, 51% were male. 37.6% had a good MOC during follow-up. Compared to patients with not good MOC, a better long-term mortality was obtained (16.8% vs 28.2%, P=.013), and an improvement in symptoms (33.8% vs 18.6%, P=.002) and a lower proportion of patients with persistently>50mmHg PaCO2 (14.2% vs. 33.9%, P<.001) was observed. CONCLUSION: In the follow-up of patients with home NIMV in our context, values defined in home nocturnal oximetry (good MOC) are positively associated with clinical, gasometric and longer-term survival.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180304
[Lr] Last revision date:180304
[St] Status:Publisher

  8 / 6271 MEDLINE  
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[PMID]: 29239066
[Au] Autor:Lemyze M; Guiot A; Mallat J; Thevenin D
[Ad] Address:Department of Respiratory and Critical Care Medicine, Schaffner Hospital, Lens, France.
[Ti] Title:The obesity supine death syndrome (OSDS).
[So] Source:Obes Rev;19(4):550-556, 2018 Apr.
[Is] ISSN:1467-789X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:The obesity supine death syndrome refers to a catastrophic cascade of cardiorespiratory complications resulting from the supine positioning of a morbidly obese subject which can ultimately lead to death. It was first described in 1977 in two massively obese patients who were forced to lie down for medical procedures. But surprisingly, despite the current worldwide epidemic of obesity, very few cases have been reported yet. It can be assumed that the syndrome is poorly recognized in clinical practice and may participate in the high rate of unexplained death in morbidly obese patients. Based on the previously published cases and on those we met, this review aims at helping clinicians to early detect at-risk patients, to correctly diagnose this dramatic syndrome and to understand the underlying pathophysiology. More importantly, the main objective is to convince the attending clinicians that they have to do everything in their power to prevent obesity supine death syndrome occurrence by maintaining morbidly obese patients in the sitting or upright position whenever possible. When the syndrome unfortunately occurs, the best therapeutic approach is based on the immediate return to sitting position.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1712
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:In-Data-Review
[do] DOI:10.1111/obr.12655

  9 / 6271 MEDLINE  
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[PMID]: 29195690
[Au] Autor:Onders RP; Markowitz A; Ho VP; Hardacre J; Novitsky Y; Towe C; Elmo M; Kaplan C; Schilz R
[Ad] Address:Department of Surgery, University Hospitals Cleveland Medical Center, Cleveland, OH, USA. Electronic address: Raymond.onders@uhhospitals.org.
[Ti] Title:Completed FDA feasibility trial of surgically placed temporary diaphragm pacing electrodes: A promising option to prevent and treat respiratory failure.
[So] Source:Am J Surg;215(3):518-521, 2018 Mar.
[Is] ISSN:1879-1883
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Etiologies contributing to failure to wean from mechanical ventilation (MV) are multiple, resulting in morbid and costly outcomes. Diaphragm pacing (DP) is used in spinal cord injury to replace MV. Temporary DP could be utilized in acute respiratory failure to reduce MV. METHODS: A prospective FDA feasibility trial evaluated temporary DP electrodes implanted in each hemi-diaphragm during a subject's primary procedure. Objectives included: ability to provide ventilation, stability analysis with diaphragm electromyography, and adverse event monitoring. RESULTS: Twelve patients underwent successful implantation via median sternotomy, laparoscopy or laparotomy. Electrode stimulation exceeded ideal tidal volumes by an average of 37% (0%-95%) confirming ability to prevent atrophy. Daily electromyography confirmed stability of placement and was useful in evaluating hypoventilation. There were no complications and all 48 study electrodes remained intact until complete removal. CONCLUSION: This trial demonstrates ease of placement, removal, functionality and safety of temporary DP electrodes which therapeutically decreases diaphragm atrophy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180305
[Lr] Last revision date:180305
[St] Status:In-Data-Review

  10 / 6271 MEDLINE  
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[PMID]: 29499916
[Au] Autor:Honda H; Sasagasako N; Shen C; Shijo M; Hamasaki H; Suzuki SO; Tsuboi Y; Fujii N; Iwaki T
[Ad] Address:Department of Neuropathology, Graduate School of Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan.
[Ti] Title:DCTN1 F52L mutation case of Perry syndrome with progressive supranuclear palsy-like tauopathy.
[So] Source:Parkinsonism Relat Disord;, 2018 Feb 23.
[Is] ISSN:1873-5126
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Perry syndrome is a rapidly progressive, autosomal dominant parkinsonism characterized by central hypoventilation, depression and severe weight loss. To date, eight DCTN1 mutations have been identified associated with Perry syndrome. A novel F52L DCTN1 mutation case of Perry syndrome is characterized by late-onset parkinsonism and frontotemporal atrophy. METHODS: A Japanese woman suffered from slowly progressing parkinsonism since age 48. At age 59, she developed central hypoventilation, and required breathing assistance. Gene analysis identified a p.F52L mutation in DCTN1 and she was diagnosed with Perry syndrome. She died of aspiration pneumonia at age 74. RESULTS: Postmortem examination revealed severe neuronal loss in the substantia nigra and the putamen. Immunohistochemistry for DCTN1 revealed many abnormal aggregates, mainly in neurons in the brainstem and basal ganglia. Additionally, numerous abnormal phosphorylated tau deposits including neurofibrillary tangles, tuft-shaped astrocytes and coiled bodies were observed mainly in the basal ganglia, brainstem and cerebellum. These correspond with the neuropathologic criteria for progressive supranuclear palsy. Colocalization of DCTN1 and tau were occasionally seen. Colocalization of phosphorylated α-synuclein and DCTN1 were also observed in Lewy body-like structures in oculomotor nuclei. Phosphorylated TARDBP-positive neuronal cytoplasmic inclusions were few. CONCLUSION: In conjunction with long disease duration and aging, our findings suggest that the F52L DCTN1 mutation may evoke severe tauopathy and moderate α-synucleinopathy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180303
[Lr] Last revision date:180303
[St] Status:Publisher


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