Nocturnal atrioventricular block as a manifestation of sleep apnea syndrome.
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Apnea↗
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Causal Relationships Between Modifiable Risk Factors and Gastroesophageal Reflux Disease: A Two-Sample Mendelian Randomization Study.
INTRODUCTION: Gastroesophageal reflux disease (GERD) is a prevalent digestive disorder, yet the causal roles of modifiable risk factors remain unclear. This study aims to investigate the causal relationships between 28 modifiable risk factors (including obesity traits, mental health disorders, sleep traits, metabolic comorbidities, and serum parameters) and GERD using two-sample Mendelian randomization (MR). Gastroesophageal reflux disease (GERD). Our findings aim to inform targeted prevention and treatment strategies for GERD. METHODS: This study obtained data from extensive genome-wide association studies (GWAS). Pooled data associated with gastroesophageal reflux associations were obtained from the 23andMe Research team's research, which included a total of 129,080 cases of gastroesophageal reflux and 473,524 controls of European ancestry. We conducted a univariable Mendelian randomization (MR) analysis to ascertain whether genetic evidence of exposure demonstrated a statistically significant association with the risk of GERD. Subsequently, a multivariable MR analysis was carried out to estimate the independent effects of the exposures on GERD. RESULTS: Univariable MR analysis utilizing extensive GWAS data suggested that genetic factors such as BMI, Waist circumference, Arm fat mass (left and right), Leg fat mass (left and right), Attention Deficit and Hyperactivity Disorder (ADHD), Major Depressive Disorder (MDD), Schizophrenia, Negative emotions (including nervousness, anxiety, tension, or depression), Insomnia, Sleep apnea syndrome, Sleep duration, and Snoring, as well as Total cholesterol levels and Apolipoprotein B levels, are associated with the development of GERD. Multivariate Mendelian randomization of BMI and Negative emotion as correction factors showed that Waist circumference, Arm fat mass (left and right), Leg fat mass (left and right), ADHD, Insomnia, Sleep apnea syndrome, and Snoring were associated with an increased risk of GERD (p< 0.05). Conversely, longer sleep duration was associated with a reduced risk of GERD (p< 0.05). DISCUSSION: This MR study reveals novel causal mechanisms in GERD pathogenesis: (1) Peripheral adiposity (arm/leg fat mass) exerts independent effects beyond central obesity, indicating site-specific fat distribution significance; (2) ADHD emerges as a distinct psychiatric risk factor independent of mental disorders; (3) Sleep apnea operates through BMI-independent pathways. Collectively, these findings redefine GERD pathophysiology, highlighting fat depot specificity and brain-gut interactions as critical mechanistic drivers. CONCLUSION: Overall, our findings suggest that multiple risk factors are associated with the risk of GERD. These results provide a theoretical basis for controlling body weight and plasticity, improving sleep habits, and preventing and timely seeking medical attention to reduce the occurrence of psychiatric disorders, which will be important strategies to prevent and alleviate GERD.
Humans↗
Respiratory and hemodynamic study during wakefulness and sleep in myotonic dystrophy.
Six young male patients with grade I (mild) myotonic dystrophy and a complaint of excessive daytime sleepiness were studied during wakefulness and sleep. Pulmonary function tests during wakefulness showed evidence of mild abnormality related to respiratory muscle weakness. During sleep, some patients developed a sleep apnea syndrome with high sleep Apnea Indices. There was no relation between hypoxic and hypercapnic ventilatory responses during wakefulness and sleep Apnea Indices. But hypoxemia and hypercapnia worsened considerably during REM sleep. Myotonic dystrophy patients with sleep apnea presented increased pulmonary and systemic arterial pressures during sleep. It was also during sleep that arrhythmias were observed.
Adult↗
Sleep-induced apnea syndrome. Prevalence of cardiac arrhythmias and their reversal after tracheostomy.
Cardiac arrhythmias during wakefulness and sleep in 15 patients with sleep-induced obstructive apnea, and the effect of atropine and tracheostomy on these arrhythmias were studied by continuous overnight Holter electrocardiographic, respiratory and electroencephalographic recordings. Sleep was characterized by marked sinus arrhythmia in 14, extreme sinus bradycardia ( less than 30 beats/minute) in six, asystole of 2.5 to 6.3 seconds in five, second degree atrioventricular (A-V) block in two, and ventricular arrhythmias--complex premature ventricular beats in 10 and ventricular tachycardia in two. Arrhythmias during wakefulness were limited to premature ventricular beats in six. Atropine administration was partially and tracheostomy highly effective in preventing the majority of these arrhythmias during sleep. Marked sinus arrhythmia during sleep is characteristic of the syndrome of obstructive sleep apnea and is frequently accompanied by potentially life-threatening tachy- and bradyarrhythmias. Possible mechanism of production of these arrhythmias, the mode of action of tracheostomy and atropine, and the probable role of similar arrhythmias in the sudden infant death syndrome are discussed.
Apnea↗
Fetal response to periodic sleep apnea: a new syndrome in obstetrics.
Periodic sleep apnea, a chronic sleep deprivation state, in which marked changes in the arterial PO2 and PCO2 tensions have been recorded, is a relatively new syndrome not previously reported in pregnancy. It is characterized by episodes of apnea, prevalently obstructive, during sleep. The majority of patients with this syndrome have snored heavily for years, suggesting a causal relationship between snoring and periodic sleep apnea. The effects of prolonged snoring on alveolar ventilation and systemic pressure(s) suggest that this snoring has physiopathological implications on maternal cardio-respiratory reserve and indirectly upon the fetus, especially as there are recordable changes in fetal heart rate and also a change in the acid-base status of the fetus. The possibility that this syndrome may have an adverse effect upon the fetus is stressed.
Adult↗
[From the Pickwickian syndrome to sleep apnea. Past and present concepts].
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Humans↗
Sleep apnea in eight children.
Eight children, 5 to 14 years of age, were diagnosed by means of nocturnal polygraphic monitoring with a sleep apnea syndrome similar to that seen in adults. Excessive daytime sleepiness, decrease in school performance, abnormal daytime behavior, recent enuresis, morning headache, abnormal weight, and progressive development of hypertension should suggest the possibility of a sleep apnea syndrome when any of these symptoms is associated with loud snoring interrupted by pauses during sleep. Surgery may eliminate the clinical symptomatology.
Adenoidectomy↗
Proceedings: Sleep-induced apnea syndrome in 6 children.
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Adolescent↗
Hypersomnia-sleep apnea due to micrognathia. Reversal by tracheoplasty.
A 67-year-old woman with acquired micrognathia developed severe daytime hypersomnia, loud snoring, nocturnal enuresis, encopresis, and hypertension. A polysomnogram demonstrated 564 sleep apneas, primarily obstructive, recurrent hypoxia, a bradytachycardia, and absent stages III, IV, and REM sleep. Endoscopy during sleep revealed recurrent active closure of the upper pharynx associated with loud snoring. A tracheoplasty was done because of severity of symptoms and failure of conservative therapy. Dramatic improvement in sleepiness and hypertension occurred within 48 hours. On postoperative night 15 a repeated polysomnogram showed only 23 apneas, no hypoxia or bradytachycardia, and long periods of stage II, IV, and REM sleep. Patients with the hypersomnia-sleep apnea syndrome should be provided with a tracheal opening during sleep when severe daytime somnolence, cardiac arrhythmias, and hypertension are present.
Aged↗
[Can an anomaly of the central nervous system be responsible for hemodynamic disorders].
Twenty-seven subjects with insomnia or diurnal hypersomnolence presented a sleep apnea syndrome when their respiration was systematically checked during sleep. These sleep-induced respiratory abnormalities were completely occult and pulmonary function tests performed during wakefulness were normal. The patients, all non-obese, presented serious pulmonary artery pressure changes which were directly connected with the repetitive sleep apneas. Half of the patients also had systemic hypertension. Two children (aged 11 and 15) underwent tracheostomies which by-passed the sleep-induced obstruction. Systemic hypertension was reduced after surgery.
Adolescent↗
[Sleep apnea synrome : effects of chlorimipramine in subjects with stable body weight (author's transl)].
Beneficial effects have been attributed to Chlorimipramine in the treatment of sleep apnea syndrome (SAS). However, there were no quantitative evaluations of these effects. Polygraphic studies were made before and after chlorimipramine treatment (75 mg per day for 3 to 16 months). The 3 SAS subjects, whose weight remained stable throughout the course of treatment, showed no evidence of reduced hypopnea and apnea during sleep.
Adult↗
Periodic sleep apnea: chronic sleep deprivation related to intermittent upper airway obstruction and central nervous system disturbance.
Periodic sleep apnea may be due to repeated episodes of upper airway obstruction in patients who have a short thick neck and/or large jowls. Apnea due to complete cessation of breathing may occur to a lesser extent. Anaylsis of the sleep electroencephalogram shows that these patients rarely achieve deep sleep and have less stage 1-REM sleep than normal subjects of comparable age. They are chronically sleep-deprived, a manifestation expressed by daytime somnolence, chronic fatigue and often by personality disturbances marked by paranoia, agitated depression and hostility. The definitive diagnosis of this syndrome may be established by monitoring during sleep, the electroencephalogram, measuring abdominal excursions through a mercury-in-Silastic-strain gauge and recording air flow at the nose by means of a thermocouple. As demonstrated by other investigators, chronic hypoventilation during sleep leads to both pulmonary and systemic arterial hypertension, which may produce generalized cardiac enlargement and congestive heart failure. The abnormalities in the periodic sleep apnea syndrome are abolished by establishing a patent airway either through tracheostomy or weight reduction.
Adult↗
Why should we study the infant 'near miss for Sudden Infant Death'?
The use of 'near miss for Sudden Infant Death syndrome' infants as a model toward understanding the Sudden Infant Death syndrome has been questioned. Although there are numerous problems in delineating this patient population and defining events occurring during sleep, continuous polygraphic monitoring demonstrates potentially life-threatening events.
Bradycardia↗
Mixed and obstructive sleep apnea and near miss for sudden infant death syndrome: 2. Comparison of near miss and normal control infants by age.
Twenty-nine full-term near miss for sudden infant death syndrome (SIDS) and 30 normal control infants underwent 24-hour polygraphic monitoring. Several types of respiratory events during sleep (eg, central, mixed, and obstructive apnea, periodic breathing) were defined and tabulated. Analysis of these respiratory variables and comparison of groups of near miss and control infants indicated that between 3 weeks and 4 1/2 months of age only one variable was consistently different at a statistically significant level: the number of mixed and obstructive apnea greater than 3 seconds during total sleep time. This study also showed an increase in mixed and obstructive respiratory events during sleep at 6 weeks of age in control as well as in near miss infants.
Female↗
The effect of mandibular osteotomy in three patients with hypersomnia sleep apnea.
Hypersomnia sleep apnea (HSA) is characterized by apneic episodes during sleep and daytime hypersomnolence. Patients afflicted as a result of upper airway obstruction have been treated traditionally with permanent tracheostomy. Three patients with HSA and mandibular retrognathism are presented. Each patient had a retrognathic mandible that stemmed from a different cause. Surgical advancement of their underdeveloped mandibles corrected the symptoms of HSA rapidly. The literature concerning HSA is reviewed and the advantages of mandibular surgery in selected cases are discussed.
Child↗
[Respiration and night sleep in children "at risk" for sudden and unexpected death (author's transl)].
Polygraphic recordings were used to study respiration and night sleep in 26 such children. These children, who were "at risk" for sudden and unexpected death, could be divided into two groups : near-miss (NM) (15 cases), and those who were brothers, sisters, or cousins of a child who had died suddenly and unexpectedly (8 cases), or had periodic respiration (RP) (3 cases). No significant differences were found between the groups in respiratory tests, except for a significantly lower RP rate in the NM group and an increase in number of isolated pauses. Sleep organization was similar in both groups, though there was a significantly higher rate of active sleep (SA) in the NM group more than 2 months old. The highest respiratory indices were noted in the extreme cases of a non-NM group (including 2 brothers of infants who had died unexpectedly). Treatment with Diphemanil methylsulfate (Prantal) reduced the number of SA and respiratory pauses of the NM infants less than 2 months old.
Female↗