Oral findings and craniofacial morphology in a patient with Schwartz-Jampel syndrome and severe obstructive sleep apnea: A case report.
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SUBMITTER: Pibulniyom M
PROVIDER: S-EPMC7752380 | biostudies-literature | 2020 Dec
REPOSITORIES: biostudies-literature
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Oral findings and craniofacial morphology in a patient with Schwartz-Jampel syndrome and severe obstructive sleep apnea: A case report.
Pibulniyom Mevadee M Pungchanchaikul Patimaporn P Assawakawintip Thanate T Peanchitlertkajorn Supakit S
Clinical case reports 20200809 12
We reported dental and craniofacial characteristics of an SJS patient with severe OSA. Not only does the syndrome cause skeletal abnormalities and myotonia, but it also affects the craniofacial development resulting in a severe constriction of maxillary arch and bimaxillary retrognathia which may increase a risk to develop pediatric OSA. ...[more]
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Project description:Rationale: Obstructive sleep apnea (OSA) has been associated with metabolic dysregulation and systemic inflammation. This may be due to pathophysiologic effects of OSA on visceral adipose tissue. We sought to assess the transcriptional consequences of OSA on adipocytes by utilizing pathway-focused analyses. Methods: Patients scheduled to undergo ventral hernia repair surgery were recruited to wear a portable home sleep monitor for two nights prior to surgery. Visceral fat biopsies were obtained intra-operatively. RNA was extracted and whole-genome expression profiling was performed. Gene Set Enrichment Analysis (GSEA) was used to identify curated gene sets that were differentially enriched in OSA subjects. Network analysis was applied to a select set of highly enriched pathways. Results: 10 patients with OSA and 8 control subjects were recruited. There were no differences in age, gender, body mass index between the two groups, but the OSA subjects had a significantly higher respiratory disturbance index (19.2 vs. 0.6, P-value 0.05) and worse hypoxemia (minimum oxygen saturation 79.7% vs. 87.8%, P-value < 0.001). GSEA identified a number of gene sets up-regulated in adipose tissue of OSA patients including the pro-inflammatory NF-M-NM-:B pathway and the proteolytic ubiquitin/proteasome module. A critical metabolic pathway, the peroxisome proliferator-activated receptor (PPAR), was down-regulated in subjects with OSA. Network analysis linked members of these modules together and identified regulatory hubs. Conclusions: OSA is associated with alterations in visceral fat gene expression. Pathway-based network analysis highlighted perturbations in several key pathways whose coordinated interactions may contribute to the metabolic dysregulation observed in this complex disorder. Total RNA from visceral fat of 18 subjects (10 OSA, 8 Control) was hybridized to 18 Affymetrix Genechip Human Gene 1.0 ST microarrays.
2012-09-01 | E-GEOD-38792 | biostudies-arrayexpress
Project description:Rationale: Obstructive sleep apnea (OSA) has been associated with metabolic dysregulation and systemic inflammation. This may be due to pathophysiologic effects of OSA on visceral adipose tissue. We sought to assess the transcriptional consequences of OSA on adipocytes by utilizing pathway-focused analyses. Methods: Patients scheduled to undergo ventral hernia repair surgery were recruited to wear a portable home sleep monitor for two nights prior to surgery. Visceral fat biopsies were obtained intra-operatively. RNA was extracted and whole-genome expression profiling was performed. Gene Set Enrichment Analysis (GSEA) was used to identify curated gene sets that were differentially enriched in OSA subjects. Network analysis was applied to a select set of highly enriched pathways. Results: 10 patients with OSA and 8 control subjects were recruited. There were no differences in age, gender, body mass index between the two groups, but the OSA subjects had a significantly higher respiratory disturbance index (19.2 vs. 0.6, P-value 0.05) and worse hypoxemia (minimum oxygen saturation 79.7% vs. 87.8%, P-value < 0.001). GSEA identified a number of gene sets up-regulated in adipose tissue of OSA patients including the pro-inflammatory NF-κB pathway and the proteolytic ubiquitin/proteasome module. A critical metabolic pathway, the peroxisome proliferator-activated receptor (PPAR), was down-regulated in subjects with OSA. Network analysis linked members of these modules together and identified regulatory hubs. Conclusions: OSA is associated with alterations in visceral fat gene expression. Pathway-based network analysis highlighted perturbations in several key pathways whose coordinated interactions may contribute to the metabolic dysregulation observed in this complex disorder.
2012-09-01 | GSE38792 | GEO
Project description:Children with craniofacial disorders are at increased risk for obstructive sleep apnea syndrome. Methods for diagnosing obstructive sleep apnea syndrome in this population remain controversial. Sleep studies are the criterion standard but are impractical for all patients. The utility of obstructive sleep apnea syndrome questionnaires such as the Pediatric Sleep Questionnaire is unknown in children with craniofacial disorders. The authors hypothesized that the Pediatric Sleep Questionnaire would be a sensitive tool for detecting obstructive sleep apnea syndrome in children with craniofacial abnormalities.A retrospective review of consecutive children with diagnosed craniofacial disorders who both completed the Pediatric Sleep Questionnaire and underwent polysomnography was performed. Demographics, Pediatric Sleep Questionnaire score, and polysomnographic data were recorded. Statistical analysis included calculation of sensitivity, specificity, positive predictive value, and negative predictive value for the Pediatric Sleep Questionnaire.Eighty-three children aged 2 to 18 years were included in the study. Of these, 44 (53.0 percent) screened positive on the Pediatric Sleep Questionnaire and 23 (27.7 percent) had polysomnographic evidence of obstructive sleep apnea syndrome, but the sensitivity of the Pediatric Sleep Questionnaire for detecting obstructive sleep apnea syndrome in this sample was only 0.57 and the specificity was 0.48. Positive predictive value and negative predictive value were 0.30 and 0.74, respectively. The correlation between the apnea hypopnea index and Pediatric Sleep Questionnaire score was 0.152 (p = 0.17).A substantial portion of craniofacial patients referred for polysomnography was found to have obstructive sleep apnea syndrome. However, the Pediatric Sleep Questionnaire is not a good screening tool for obstructive sleep apnea syndrome in children with craniofacial conditions. More research is needed to determine which patients with craniofacial disorders should be evaluated for obstructive sleep apnea syndrome by polysomnography or other means.Diagnostic, II.
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Project description:The direct pathophysiological effects of obstructive sleep apnea (OSA) have been well described. However, the systemic and metabolic consequences of OSA are less well understood. The aim of this secondary analysis was to translate recent findings in healthy subjects on vigilance-state-dependent metabolism into the context of OSA patients and answer the question of how symptomatic OSA influences metabolism and whether these changes might explain metabolic and cardiovascular consequences of OSA. Patients with suspected OSA were assigned according to their oxygen desaturation index (ODI) and Epworth Sleepiness Scale (ESS) score into symptomatic OSA and controls. Vigilance-state-dependent breath metabolites assessed by high-resolution mass spectrometry were used to test for a difference in both groups. In total, 44 patients were eligible, of whom 18 (40.9%) were assigned to the symptomatic OSA group. Symptomatic OSA patients with a median [25%, 75% quartiles] ODI of 40.5 [35.0, 58.8] events/h and an ESS of 14.0 [11.2, 15.8] showed moderate to strong evidence for differences in 18 vigilance-state-dependent breath compounds compared to controls. These identified metabolites are part of major metabolic pathways in carbohydrate, amino acid, and lipid metabolism. Thus, beyond hypoxia per se, we hypothesize that disturbed sleep in OSA patients persists as disturbed sleep-dependent metabolite levels during daytime.
| S-EPMC9694615 | biostudies-literature
Project description:BackgroundObstructive sleep apnea (OSA) has been associated with cardiac abnormalities. Whether any cardiac dysfunction is present in ischemic stroke patients with OSA is not known. The purpose of this study was to compare echocardiographic findings in ischemic stroke patients with and without OSA.MethodsNocturnal polysomnography was performed on 28 ischemic stroke subjects within 7 days of symptom onset. OSA was defined as an apnea-hypopnea index of ≥10. Echocardiographic variables were compared between the OSA and non OSA groups using Wilcoxon signed-rank, chi-square, or Fisher's exact tests.ResultsThe 14 (50%) subjects with OSA had comparable cardiac function and structure to those without OSA (n=14). Left ventricular (LV) mass index, LV ejection fraction, LV diastolic function, left atrial area, and right ventricular systolic function were not different between groups. Ischemic stroke subjects, regardless of their OSA status, had LV diastolic dysfunction with preserved systolic function.ConclusionsSubjects with and without OSA, based on polysomnography in the first 7 days after stroke, have comparable right and left ventricular function.
| S-EPMC3145249 | biostudies-literature
Project description:Obstructive sleep apnea (OSA) is the most common sleep disorder. Sleep bruxism (SB) is a masticatory muscle activity during sleep that commonly co-occurs with OSA. The presented study aimed to assess this relationship and to identify factors affecting this co-occurrence. Adult patients (n = 110) were evaluated for OSA and SB in a sleep laboratory using polysomnography. The episodes of bruxism and respiratory events were scored according to the standards of the American Academy of Sleep Medicine. The prevalence of OSA and SB was found to be 86.37% and 50%, respectively. The bruxism episode index (BEI) was increased in the group with mild and moderate OSA (apnea-hypopnea index (AHI) <30) compared to that in the group with severe OSA (AHI ? 30) (5.50 ± 4.58 vs. 1.62 ± 1.28, p < 0.05). A positive correlation between AHI and BEI was observed in the group with AHI < 30. Regression analysis indicated that higher AHI, male gender, and diabetes were independent predictors for the increased BEI in group with AHI < 30. The relationship between OSA and SB depends on the degree of severity of OSA. OSA is correlated with SB in mild and moderate cases of OSA in the group of patients with increased risk of OSA.
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Project description:Obstructive sleep apnea (OSA) is associated with cardiometabolic diseases. Telomere shortening is linked to hypertension, diabetes mellitus, and cardiovascular diseases. Because these conditions are highly prevalent in OSA, we hypothesized that telomere length (TL) would be reduced in OSA patients. We identified 106 OSA and 104 non-OSA subjects who underwent polysomnography evaluation. Quantitative PCR was used to measure telomere length in genomic DNA isolated from peripheral blood samples. The association between OSA and TL was determined using unadjusted and adjusted linear models. There was no difference in TL between the OSA and non-OSA (control) group. However, we observed a J-shaped relationship between TL and OSA severity: the longest TL in moderate-to-severe OSA [4,918?±?230 (SD) bp] and the shortest TL in mild OSA (4,735?±?145 bp). Mean TL in moderate-to-severe OSA was significantly longer than in the control group after adjustment for age, sex, body mass index, hypertension, dyslipidemia, and depression (??=?96.0, 95% confidence interval: 15.4-176.6, P = 0.020). In conclusion, moderate-to-severe OSA is associated with telomere lengthening. Our findings support the idea that changes in TL are not unidirectional processes, such that telomere shortening occurs with age and disease but may be prolonged in moderate-to-severe OSA.NEW & NOTEWORTHY Here, we show that moderate-to-severe obstructive sleep apnea is associated with longer telomeres, independent of age and cardiovascular risk factors, challenging the hypothesis that telomere shortening is a unidirectional process related to age/disease. A better understanding of the mechanisms underlying telomere dynamics may identify targets for therapeutic intervention in cardiovascular aging/other chronic diseases.
| S-EPMC5792204 | biostudies-other
Project description:Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterised by the presence of myotonia with a mask-like face, skeletal dysplasia, and growth retardation. Two types have been defined by the age of manifestation of the symptoms. Linkage of Schwartz-Jampel syndrome to human chromosome 1p34-p36.1 has been shown in families where probands presented during infancy or early childhood. We have investigated two well documented families segregating severe neonatal SJS with microsatellite markers spanning the critical region of 1p34-p36. No demonstrable linkage to chromosome 1 was found in either family, suggesting that a second locus is responsible for the severe form of neonatal Schwartz-Jampel syndrome.
| S-EPMC1051035 | biostudies-other
Project description:Study objectiveTo investigate whether low levels of physical activity were associated with an increased occurrence of obstructive sleep apnea (OSA), OSA-related symptoms, and cardiometabolic risk.MethodsA case-control study design was used. OSA cases were patients referred to a sleep clinic for suspected OSA (n = 2,340). Controls comprised participants from the Busselton community (n = 1,931). Exercise and occupational activity were derived from questionnaire data. Associations were modelled using logistic and linear regression and adjusted for confounders.ResultsIn comparison with moderate exercise, the high, low, and nil exercise groups had an odds ratio (OR) for moderate-severe OSA of 0.6 (95% CI 0.5-0.8), 1.6 (95% CI 1.2-2.0), and 2.7 (95% CI 1.9-3.7), respectively. Relative to men in heavy activity occupations, men in medium, light and sedentary occupations had an OR for moderate-severe OSA of 1.7 (95% CI 1.1-2.5), 2.1 (95% CI 1.4-3.2), and 1.8 (95% CI 1.2-2.8), respectively. Relative to women in medium activity occupations, women in light and sedentary occupations had an OR for moderate-severe OSA of 4.2 (95% CI 2.6-7.2) and 3.5 (2.0-6.0). OSA patients who adequately exercised had lower: levels of doctor-diagnosed depression (p = 0.047); symptoms of fatigue (p < 0.0001); systolic (p = 0.015) and diastolic blood pressure (p = 0.015); and C-reactive protein (CRP) (p = 0.003).ConclusionsLow levels of physical activity were associated with moderate-severe OSA. Exercise in individuals with OSA is associated with lower levels of depression, fatigue, blood pressure and CRP.
| S-EPMC4582050 | biostudies-literature
Project description:RationaleObstructive sleep apnea is associated with insulin resistance and liver injury. It is unknown whether apnea contributes to insulin resistance and steatohepatitis in severe obesity.ObjectivesTo examine whether sleep apnea and nocturnal hypoxemia predict the severity of insulin resistance, systemic inflammation, and steatohepatitis in severely obese individuals presenting for bariatric surgery.MethodsWe performed sleep studies and measured fasting blood glucose, serum insulin, C-reactive protein, and liver enzymes in 90 consecutive severely obese individuals, 75 women and 15 men, without concomitant diabetes mellitus or preexistent diagnosis of sleep apnea or liver disease. Liver biopsies (n = 20) were obtained during bariatric surgery.Measurements and main resultsObstructive sleep apnea with a respiratory disturbance index greater than 5 events/hour was diagnosed in 81.1% of patients. The median respiratory disturbance index was 15 +/- 29 events/hour and the median oxygen desaturation during apneic events was 4.6 +/- 1.8%. All patients exhibited high serum levels of C-reactive protein, regardless of the severity of apnea, whereas liver enzymes were normal. Oxygen desaturation greater than 4.6% was associated with a 1.5-fold increase in insulin resistance, according to the homeostasis model assessment index. Histopathology data suggested that significant nocturnal desaturation might predispose to hepatic inflammation, hepatocyte ballooning, and liver fibrosis. Fasting blood glucose levels and steatosis scores were not affected by nocturnal hypoxia. There was no relationship between the respiratory disturbance index and insulin resistance or liver histopathology.ConclusionsHypoxic stress of sleep apnea may be implicated in the development of insulin resistance and steatohepatitis in severe obesity.
| S-EPMC2633055 | biostudies-literature