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1.
BMJ Case Rep ; 14(9)2021 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-34544712

RESUMO

Congenital central hypoventilation syndrome (CCHS) is an uncommon genetic disease characterised by an autonomic nervous system dysfunction that affects ventilatory homeostasis. Involvement of other systems is also described, mainly cardiovascular, gastrointestinal and central nervous systems. We describe a rare case of CCHS diagnosed in a term newborn who presented with persistent apnoea in the first hours of life. After an exhaustive aetiological study excluding primary pulmonary, cardiac, metabolic and neurological diseases, this diagnosis was confirmed by a paired-like homeobox 2B gene sequence analysis. During hospitalisation, ventilation was optimised and multidisciplinary follow-up was initiated, including genetic counselling. At 2 months old, the child was discharged under non-invasive ventilation during sleep. This case illustrates the importance of early diagnosis, including genetic study and advances in home ventilation. These factors allow early hospital discharge and timely multidisciplinary intervention, which is crucial for patients' quality of life and outcome optimisation.


Assuntos
Apneia , Apneia do Sono Tipo Central , Criança , Proteínas de Homeodomínio/genética , Humanos , Hipoventilação/congênito , Hipoventilação/diagnóstico , Hipoventilação/genética , Lactente , Recém-Nascido , Qualidade de Vida , Apneia do Sono Tipo Central/diagnóstico , Apneia do Sono Tipo Central/genética , Apneia do Sono Tipo Central/terapia
2.
Pediatr Emerg Care ; 37(10): 528-532, 2021 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-34570081

RESUMO

OBJECTIVE: Because of the abundance of complications associated with peri-intubation hypoxia, maintaining adequate oxygen saturation during endotracheal intubation (ETI) is of great concern. In addition to standard preoxygenation techniques, apneic oxygenation (AO), the continuous flow of passive oxygenation, is a potential tool that can be used to eliminate hypoxia during ETI. Although scarcely studied in the pediatric population, AO has proven effective in reducing the incidence of hypoxia in adult patients with minimal side effects. The objective of this study is to evaluate the use of apneic oxygenation in pediatric patients and to determine its efficacy in preventing or delaying oxygen desaturation during the apneic period of ETI. METHODS: This literature review examines 4 studies that evaluate the practice of AO in pediatric patients. A total of 712 patients across 3 randomized control trials and 1 observational study were assigned to either a control group that did not receive any form of AO, a group that did not receive 100% fraction of inspired oxygen (FiO2), or an intervention group where various methods of AO were delivered. RESULTS: Each AO method that provided 100% FiO2 saw a significantly longer time until initial desaturation when compared with those that did not receive any form of AO or those not receiving 100% FiO2. CONCLUSIONS: The findings in this study confirm that the practice of AO is not only efficacious in increasing the time until initial desaturation but also reduces the overall incidence of hypoxia during laryngoscopy in children.


Assuntos
Intubação Intratraqueal , Laringoscopia , Apneia/terapia , Criança , Humanos , Hipóxia/etiologia , Hipóxia/prevenção & controle , Estudos Observacionais como Assunto , Oxigênio , Oxigenoterapia , Ensaios Clínicos Controlados Aleatórios como Assunto , Respiração Artificial
3.
Comput Methods Programs Biomed ; 209: 106321, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34380078

RESUMO

BACKGROUND AND OBJECTIVE: Preterm neonates are prone to episodes of apnea, bradycardia and hypoxia (ABH) that can lead to neurological morbidities or even death. There is broad interest in developing methods for real-time prediction of ABH events to inform interventions that prevent or reduce their incidence and severity. Using advances in machine learning methods, this study develops an algorithm to predict ABH events. METHODS: Following previous studies showing that respiratory instabilities are closely associated with bouts of movement, we present a modeling framework that can predict ABH events using both movement and cardio-respiratory features derived from routine clinical recordings. In 10 preterm infants, movement onsets and durations were estimated with a wavelet-based algorithm that quantified artifactual distortions of the photoplethysmogram signal. For prediction, cardio-respiratory features were created from time-delayed correlations of inter-beat and inter-breath intervals with past values; movement features were derived from time-delayed correlations with inter-breath intervals. Gaussian Mixture Models and Logistic Regression were used to develop predictive models of apneic events. Performance of the models was evaluated with ROC curves. RESULTS: Performance of the prediction framework (mean AUC) was 0.77 ± 0.04 for 66 ABH events on training data from 7 infants. When grouped by the severity of the associated bradycardia during the ABH event, the framework was able to predict 83% and 75% of the most severe episodes in the 7-infant training set and 3-infant test set, respectively. Notably, inclusion of movement features significantly improved the predictions compared with modeling with only cardio-respiratory signals. CONCLUSIONS: Our findings suggest that recordings of movement provide important information for predicting ABH events in preterm infants, and can inform preemptive interventions designed to reduce the incidence and severity of ABH events.


Assuntos
Apneia , Recém-Nascido Prematuro , Apneia/diagnóstico , Bradicardia/diagnóstico , Frequência Cardíaca , Humanos , Lactente , Recém-Nascido , Movimento
4.
J Trop Pediatr ; 67(2)2021 05 17.
Artigo em Inglês | MEDLINE | ID: mdl-34131763

RESUMO

INTRODUCTION: Birth asphyxia may cause neuro-developmental impairment in the affected newborns especially those who had hypoxic-ischemic encephalopathy. Music therapy has been observed to help in reducing pain and stress in newborns and improve neurodevelopmental outcome. OBJECTIVES: The objective of this study is to determine the effects of music therapy on the outcomes of birth asphyxia. METHODS: A randomized controlled trial involving 3095 newborns born between January 2013 and August 2019 with birth asphyxia was conducted in the neonatal intensive care unit of Burdwan Medical College. They were distributed in two groups-A (received music therapy along with coventional management) and B (only received conventional management), using computer-generated randomization. Pain score was assessed during any painful procedure and the neurodevelopmental outcome was measured at 3rd, 6th, 12th, 18th and 24th months. p < 0.01 was considered statistically significant. RESULTS: A total of 3095 newborns were included with a mean gestation of 34.3 ± 2.1 weeks and 56.7% of them were male. Mean hospital stay, oxygen dependency, requirement of mechanical ventilation and incidence of apnea were significantly lesser among newborns of group A. Newborns of group B showed a significantly higher mean pain score, whereas newborns in Group A exhibited significantly greater mental and motor neurodevelopmental quotients. CONCLUSIONS: Music therapy was observed to help in reducing hospital stay, oxygen dependency, incidences of apnea, pain during procedures and also resulted in better neurodevelopmental outcome. However, before generalizing the findings, further multi-centric research should be undertaken.


Assuntos
Asfixia Neonatal , Hipóxia-Isquemia Encefálica , Música , Apneia , Asfixia , Asfixia Neonatal/terapia , Humanos , Recém-Nascido , Masculino
5.
J Appl Physiol (1985) ; 131(2): 474-486, 2021 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-34166106

RESUMO

Splenic contraction, which leads to ejection of stored erythrocytes, is greater in athletes involved in regular freediving or high-altitude activities. As this response facilitates oxygen-carrying capacity, similar characteristics may be expected of elite endurance athletes. Therefore, our aims were to compare resting and apnea-induced splenic volume in endurance athletes and untrained individuals, and to assess the athletes' exercise-induced splenic volume. Twelve elite biathletes (7 women) and 12 controls (6 women) performed a maximal effort apnea in a seated position. In addition, the biathletes completed a maximal roller-skiing time trial. Splenic dimensions were measured by ultrasonic imaging for subsequent volume calculations, whereas Hb was analyzed from capillary blood samples and cardiorespiratory variables were monitored continuously. Baseline splenic volume was larger in the biathletes (214 ± 56 mL) compared with controls (157 ± 39 mL, P = 0.008) and apnea-induced splenic contraction was also greater in the biathletes (46 ± 20 mL vs. 30 ± 16 mL, P = 0.035). Hb increased immediately after apnea in the biathletes (4.5 ± 4.8%, P = 0.029) but not in the controls (-0.7 ± 3.1%, P = 0.999). Increases in exercise-induced splenic contraction (P = 0.008) and Hb (P = 0.001) were greater compared with the apnea-induced responses among the athletes. Baseline splenic volume tended to be correlated with V̇o2max (r = 0.584, P = 0.059). We conclude that elite biathletes have greater splenic volume with a greater ability to contract and elevate Hb compared with untrained individuals. These characteristics may transiently enhance O2-carrying capacity and possibly increase O2 uptake, thereby helping biathletes to cope with high intermittent O2 demands and severe O2 deficits that occur during biathlon training and competition.NEW & NOTEWORTHY This study demonstrates that elite biathletes have larger splenic volume, apnea-induced splenic contraction, and Hb elevation compared with untrained individuals, which is likely functional to cope with high O2 demands and substantial O2 deficits. We believe that enhanced splenic contraction may be of importance during competitions involving cross-country skiing, to regulate circulating Hb and enhance O2-carrying capacity, which may protect [Formula: see text] and increase O2 uptake.


Assuntos
Esqui , Apneia , Atletas , Feminino , Humanos , Oxigênio , Consumo de Oxigênio , Resistência Física
6.
Diving Hyperb Med ; 51(2): 210-215, 2021 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-34157738

RESUMO

Many competitive breath-hold divers use dry apnoea routines to improve their tolerance to hypoxia and hypercapnia, varying the amount of prior hyperventilation and lung volume. When hyperventilating and exhaling to residual volume prior to starting a breath-hold, hypoxia is reached quickly and without too much discomfort from respiratory drive. Cerebral hypoxia with loss of consciousness (LOC) can easily result. Here, we report on a case where an unsupervised diver used a nose clip that is thought to have interfered with his resumption of breathing after LOC. Consequently, he suffered an extended period of severe hypoxia, with poor ventilation and recovery. He also held his breath on empty lungs; thus, trying to inhale created an intrathoracic sub-atmospheric pressure. Upon imaging at the hospital, severe intralobular pulmonary oedema was noted, with similarities to images presented in divers suffering from pulmonary barotrauma of descent (squeeze, immersion pulmonary oedema). Describing the physiological phenomena observed in this case highlights the risks associated with unsupervised exhalatory breath-holding after hyperventilation as a training practice in competitive freediving.


Assuntos
Mergulho , Edema Pulmonar , Apneia/etiologia , Suspensão da Respiração , Mergulho/efeitos adversos , Humanos , Masculino , Edema Pulmonar/etiologia , Síncope
7.
Pediatr Cardiol ; 42(7): 1614-1624, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34081171

RESUMO

While swimming represents a popular recreational activity, the immersion of the human body into the water requires a complex physiologic adaption of the whole cardiopulmonary and circulatory system. While this sport is regarded as beneficial, especially in cardiovascular patients, current guidelines hypothesized a possible hazardous effect of swimming and especially diving in patients with univentricular hearts after Fontan palliation. Yet, actual data to underline or contradict these assumptions are lacking. Therefore, this study aimed to conduct a first feasibility study for the evaluation of these effects on Fontan physiology and elucidate the gap of evidence currently preventing patients after Fontan palliation from being restricted from swimming or diving on doctoral advice. Patients recruited from the Heart Center Leipzig, Department of pediatric cardiology, underwent spiroergometry treadmill testing followed by a spiroergometry swimming stress test in a counter current pool. Physiologic data were recorded. A short apnea diving test was performed. The current study found similar physiologic reactions comparing treadmill and swimming exercise stress testing. Heart rate response and oxygen uptake were comparable on land and in the water. This study presents the first-in-man data on swimming and diving in Fontan patients. In this small study cohort of three Fontan patients, there were no adverse events triggered by swimming and breath-hold diving seen. Basically, the physiologic response to exercise was comparable on land and in the water.


Assuntos
Mergulho , Técnica de Fontan , Adaptação Fisiológica , Apneia , Criança , Mergulho/efeitos adversos , Teste de Esforço , Técnica de Fontan/efeitos adversos , Humanos , Natação
8.
Am J Physiol Regul Integr Comp Physiol ; 321(2): R174-R185, 2021 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-34133229

RESUMO

The current study evaluated the hypothesis that 6 mo of exercise-based cardiac rehabilitation (CR) would improve sympathetic neural recruitment in patients with ischemic heart disease (IHD). Microneurography was used to evaluate action potential (AP) discharge patterns within bursts of muscle sympathetic nerve activity (MSNA), in 11 patients with IHD (1 female; 61 ± 9 yr) pre (pre-CR) and post (post-CR) 6 mo of aerobic and resistance training-based CR. Measures were made at baseline and during maximal voluntary end-inspiratory (EI-APN) and end-expiratory apneas (EE-APN). Data were analyzed during 1 min of baseline and the second half of apneas. At baseline, overall sympathetic activity was less post-CR (all P < 0.01). During EI-APN, AP recruitment was not observed pre-CR (all P > 0.05), but increases in both within-burst AP firing frequency (Δpre-CR: 2 ± 3 AP spikes/burst vs. Δpost-CR: 4 ± 3 AP spikes/burst; P = 0.02) and AP cluster recruitment (Δpre-CR: -1 ± 2 vs. Δpost-CR: 2 ± 2; P < 0.01) were observed in post-CR tests. In contrast, during EE-APN, AP firing frequency was not different post-CR compared with pre-CR tests (Δpre-CR: 269 ± 202 spikes/min vs. Δpost-CR: 232 ± 225 spikes/min; P = 0.54), and CR did not modify the recruitment of new AP clusters (Δpre-CR: -1 ± 3 vs. Δpost-CR: 0 ± 1; P = 0.39), or within-burst firing frequency (Δpre-CR: 3 ± 3 AP spikes/burst vs. Δpost-CR: 2 ± 2 AP spikes/burst; P = 0.21). These data indicate that CR improves some of the sympathetic nervous system dysregulation associated with cardiovascular disease, primarily via a reduction in resting sympathetic activation. However, the benefits of CR on sympathetic neural recruitment may depend upon the magnitude of initial impairment.


Assuntos
Apneia/fisiopatologia , Reabilitação Cardíaca , Terapia por Exercício , Tolerância ao Exercício , Músculo Esquelético/inervação , Isquemia Miocárdica/reabilitação , Recrutamento Neurofisiológico , Sistema Nervoso Simpático/fisiopatologia , Potenciais de Ação , Idoso , Aptidão Cardiorrespiratória , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Isquemia Miocárdica/diagnóstico , Isquemia Miocárdica/fisiopatologia , Recuperação de Função Fisiológica , Fatores de Tempo , Resultado do Tratamento
9.
Biomed Chromatogr ; 35(9): e5141, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34041763

RESUMO

Caffeine (CA) is accepted as a probe of cytochrome P450 1A2 enzyme (CYP1A2) activity and is commonly used in premature infants with great inter-individual variability of metabolism. To evaluate the change characteristics of CYP1A2 activity in premature infants, an ultra-high-performance liquid chromatography-tandem mass spectrometry method was developed and optimized for the simultaneous quantitation of serum CA and its major metabolites, including paraxanthine (PX), theophylline (TP) and theobromine (TB), in premature infants. A C18 column and gradient elution with 0.1% formic acid in methanol and 0.1% formic acid in water at a flow rate of 0.3 mL/min were used for compound separation. The mass spectrometer monitored the transitions of CA (m/z 195.0 → 138.0), CA-d9 (m/z 204.0 → 144.1), PX (m/z 181.0 → 124.1), TP (m/z 181.0 → 123.9) and TB (m/z 181.0 → 138.0) using multiple reaction monitoring in positive ion mode. CYP1A2 activity was evaluated by serum molar concentration ratios of CA and its metabolites. The results showed that CYP1A2 has a significant positive correlation with the clearance of CA, and was affected by current weight and CYP1A2*1C. The results suggested that the serum concentration ratios of CA metabolites could be used to predict the changes in CYP1A2 enzyme activity in premature infants.


Assuntos
Cafeína/sangue , Cromatografia Líquida de Alta Pressão/métodos , Citocromo P-450 CYP1A2/metabolismo , Recém-Nascido Prematuro/metabolismo , Espectrometria de Massas em Tandem/métodos , Apneia/tratamento farmacológico , Cafeína/metabolismo , Cafeína/uso terapêutico , Citocromo P-450 CYP1A2/sangue , Feminino , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/tratamento farmacológico , Recém-Nascido Prematuro/sangue , Masculino
10.
Med Klin Intensivmed Notfmed ; 116(5): 459-471, 2021 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-34009402

RESUMO

Brain death (irreversible loss of brain function), according to German regulations, is investigated exclusively by qualified specialists in a strictly hierarchical three-step pattern and a four-eyes principle. In step 1 all necessary prerequisites are to be checked and the pathophysiology of brain damage has to be classified. Step 2 comprises the clinical investigation of reactivity to external stimuli and the upper, middle and lower brain stem reflexes including apnea testing. Step 3 exclusively checks for irreversibility of this condition. The latter is achieved by appropriate technical investigations or by repeated clinical examinations within context-specified intervals (range 12-72 h). However, exclusion of contributing primarily infratentorial pathologies is necessary to avoid limitations of the clinical findings. In this paper, both the initiation of brain death diagnostics and the approved clinical tests regarding to their execution, their alternatives and limits are presented and special situations like conditions with extracorporeal membrane oxygenation (ECMO) are also examined.


Assuntos
Lesões Encefálicas , Oxigenação por Membrana Extracorpórea , Apneia/diagnóstico , Encéfalo , Morte Encefálica/diagnóstico , Humanos
12.
Artigo em Inglês | MEDLINE | ID: mdl-33922783

RESUMO

Caffeine is the most commonly used methyl xanthine for the prevention of apnoea in prematurity, but the ideal dose was uncertain, until now. This study compared two doses of caffeine for the prevention of apnoea in prematurity. A clinical trial was conducted on 78 preterm infants ≤32 weeks in Neonatal Intensive Care Unit. They were randomly allocated to receive the intervention (loading 40 mg/kg/day and maintenance of 20 mg/kg/day) or the control (loading 20 mg/kg/day and maintenance of 10 mg/kg/day) dose of caffeine. The primary outcome of the study was the frequency and total days of apnoea per duration of treatment for both groups. The frequency of apnoea ranged from zero to fourteen in the intervention group and zero to twelve in the control group. There was no statistically significant difference between the groups, with a p-value of 0.839. The number of days of apnoea was also similar between both groups, with a p-value of 0.928. There was also no significant difference in adverse events between both regimens. This study did not support the use of higher doses of caffeine as a prevention for apnoea in prematurity.


Assuntos
Cafeína , Doenças do Prematuro , Apneia/tratamento farmacológico , Apneia/prevenção & controle , Cafeína/uso terapêutico , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro
13.
J Vis Exp ; (169)2021 03 27.
Artigo em Inglês | MEDLINE | ID: mdl-33843929

RESUMO

Patients with ion channelopathies are at a high risk of developing seizures and fatal cardiac arrhythmias. There is a higher prevalence of heart disease and arrhythmias in people with epilepsy (i.e., epileptic heart.) Additionally, cardiac and autonomic disturbances have been reported surrounding seizures. 1:1,000 epilepsy patients/year die of sudden unexpected death in epilepsy (SUDEP). The mechanisms for SUDEP remain incompletely understood. Electroencephalograms (EEG) and electrocardiograms (ECG) are two techniques routinely used in the clinical setting to detect and study the substrates/triggers for seizures and arrhythmias. While many studies and descriptions of this methodology are in rodents, their cardiac electrical activity differs significantly from humans. This article provides a description of a non-invasive method for recording simultaneous video-EEG-ECG-oximetry-capnography in conscious rabbits. As cardiac electrical function is similar in rabbits and humans, rabbits provide an excellent model of translational diagnostic and therapeutic studies. In addition to outlining the methodology for data acquisition, we discuss the analytical approaches for examining neuro-cardiac electrical function and pathology in rabbits. This includes arrhythmia detection, spectral analysis of EEG and a seizure scale developed for restrained rabbits.


Assuntos
Apneia/diagnóstico , Arritmias Cardíacas/diagnóstico , Convulsões/diagnóstico , Animais , Coelhos , Restrição Física
14.
Anaesth Intensive Care ; 49(2): 86-97, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33906464

RESUMO

Patient-ventilator dyssynchrony or asynchrony occurs when, for any parameter of respiration, discordance exists between the patient's spontaneous effort and the ventilator's provided support. If not recognised, it may promote oversedation, prolong the duration of mechanical ventilation, create risk for lung injury, and generally confuse the clinical picture. Seven forms of dyssynchrony are common: (a) ineffective triggering; (b) autotriggering; (c) inadequate flow; (d) too much flow; (e) premature cycling; (f) delayed cycling; and (g) peak pressure apnoea. 'Reverse triggering' also occurs and may mimic premature cycling. Correct diagnosis of these phenomena often permits management by simple ventilator optimisation rather than by less desirable measures.


Assuntos
Respiração Artificial , Ventiladores Mecânicos , Apneia , Humanos , Unidades de Terapia Intensiva , Respiração
16.
Anaesth Crit Care Pain Med ; 40(2): 100817, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33677095

RESUMO

BACKGROUND: The objective of this study was to measure the incidence of arterial oxygen desaturation during rapid sequence induction intubation in children following apnoeic oxygenation via transnasal humidified rapid-insufflation ventilatory exchange (THRIVE). METHODS: In this prospective observational study, arterial desaturation < 95% SaO2 before intubation was recorded following apnoeic RSI combining an intravenous hypnotic agent, suxamethonium and THRIVE (used during the apnoeic period). The incidence of desaturation was calculated in the whole cohort and according to patients' age (older or younger than 1 year). RESULTS: Complete data were collected for 79 patients, 1 day to 15 years of age. Nine patients (11.4%) exhibited arterial desaturation before tracheal intubation and received active facemask ventilation. Patients exhibiting desaturation were more likely to be less than 1 year of age (9/9, (100%) versus 37/70, (52.9%); P = 0.005), to be reported as difficult intubations (5/9, (55.6%) versus 1/70, (1.4%), p < 0.001), and to have regurgitation at induction (2/9, (22.2%) versus 0/70, (0%), p = 0.01). CONCLUSIONS: Results of the current study indicated that almost 91% of RSI can be performed without desaturation when THRIVE is used. A comparative controlled study is required to confirm these findings. Specific situations and conditions limiting the efficacy of THRIVE during RSI should also be investigated.


Assuntos
Insuflação , Administração Intranasal , Apneia , Criança , Humanos , Intubação Intratraqueal , Indução e Intubação de Sequência Rápida
17.
Anaesth Crit Care Pain Med ; 40(2): 100847, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33774263

RESUMO

INTRODUCTION: This study sought to describe the phenotype and genotype characteristics of patients referred to our laboratory to undergo further assessment due to a suspicion of a prolonged effect of suxamethonium attributed to BChE deficiency. METHODS: All patients referred to our laboratory from January 2016 to December 2019 due to the suspicion of a prolonged effect of suxamethonium were included in this study. The determination of BChE activity and genotyping using complete nucleotide sequencing of the entire complementary DNA-coding region with flanking intron-exon boundaries were completed. RESULTS: During this four-year period, 58 patients were referred to our laboratory for the investigation of prolonged neuromuscular block due to BChE deficiency. Among them, 52 showed a BChE deficiency related to BCHE gene mutations. The most commonly detected genotype was compound homozygous atypical variant (p.Asp98Gly)/homozygous Kalow variant (p.Ala569Thr) (p.[Asp98Gly;Ala567Thr];[p.Asp98Gly;Ala567Thr]). Further, we recorded four new BCHE variants, which seem to be associated with prolonged post suxamethonium apnoea: p.(Trp205Cys), p.(Leu222His), p.(Glu469Gln), and p.(Lys276Ter). CONCLUSION: During a four-year period, among the 58 patients referred to our laboratory, we have found four new BCHE variants, which seem to be associated with prolonged post suxamethonium apnoea (p.(Trp205Cys), p.(Leu22His), p.(Glu469Gln), and p.(Lys276Ter)).


Assuntos
Apneia , Succinilcolina , Apneia/genética , Genótipo , Humanos , Mutação , Fenótipo , Succinilcolina/efeitos adversos
18.
BMJ Case Rep ; 14(3)2021 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-33741569

RESUMO

A 20-day-old term infant presented with recurrent apnoea, lethargy and respiratory failure. Examination revealed episodes of apnoea and desaturation to 85% without any signs of respiratory distress requiring initiation of non-invasive positive pressure ventilation (NPPV). Capillary blood gas was indicative of respiratory acidosis and serum bicarbonate was elevated at 35 mmol/L. Chest radiograph, echocardiogram and evaluations for infectious aetiologies resulted normal. Due to inability to wean off NPPV with ensuing apnoea and desaturation, polysomnogram was performed and showed central and obstructive sleep apnoea, hypoxaemia and hypoventilation. Central apnoeas and hypoventilation were worse in non-rapid eye movement sleep. Paired-like homeobox 2B genetic studies showed a novel non-polyalanine repeat mutation (c.429+1G>A) establishing the diagnosis of congenital central hypoventilation syndrome (CCHS). Our case highlights the utility of polysomnography in the evaluation of term infants with apnoea. Although rare, clinicians should consider a diagnosis of CCHS in the evaluation of infants with apnoea and hypoventilation.


Assuntos
Hipoventilação , Apneia do Sono Tipo Central , Apneia , Proteínas de Homeodomínio/genética , Humanos , Hipoventilação/congênito , Hipoventilação/diagnóstico , Hipoventilação/genética , Lactente , Mutação , Apneia do Sono Tipo Central/diagnóstico , Apneia do Sono Tipo Central/genética
19.
J Int Med Res ; 49(3): 300060521990260, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33682509

RESUMO

OBJECTIVE: To study the safety and feasibility of implementation of precise radiotherapy with inducement of an apnea-like condition. METHODS: Two patients with lung tumors underwent precise radiotherapy under an apnea-like condition. The apnea-like condition was induced 11 times between the two patients for tumor localization and treatment. The changes in the blood oxygen saturation, blood pressure, heart rate, and end-tidal carbon dioxide during the apnea-like periods were observed, and the incidence of adverse reactions was recorded. RESULTS: The average apnea-like time was 6.2 minutes (range, 3-9 minutes), and the average radiotherapy time was 4.6 minutes (range, 1-7 minutes). The lowest blood oxygen saturation level was 97%, with a change of <1%. The heart rate and average arterial blood pressure increased during the apnea-like periods. Contact sores appeared on the patients' posterior pharyngeal wall after the first apnea-like period; no other adverse events occurred. CONCLUSION: Precise radiotherapy under an apnea-like condition is safe and feasible for patients with lung tumors.


Assuntos
Anestésicos , Apneia , Frequência Cardíaca , Humanos , Hipóxia , Oximetria , Oxigênio
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