ObjectiveTo provide the possibility to explain the relationship between genotype and phenotype, and to provide reference for the clinical treatment of Sleep-related hypermotor epilepsy (SHE). MethodsWe retrospectively analyzed the case data of the child (patient 1) diagnosed with SHE in the outpatient department of the Second Affiliated Hospital of Wenzhou Medical University in December 2017, and inquired about his family history and growth and development history. We learned that the father (patient 2) of the child had a history of epilepsy, and we also collected his medical history and growth and development history of patient 2. We carried out the basic physical examination for the two patients, and basic blood routine and blood biochemical indicators have also been done. In addition, electroencephalogram, Wechsler intelligence assessment and cranial magnetic resonance imaging were performed. After the diagnosis of patients 1 and 2, we treated them with antiepileptic drugs and make them long-term follow-up. What’more, we collected the peripheral blood of patient 1 and his father and mother, sequenced the gene, established phylogenetic tree for the mutation gene, and compared the homologous protein sequence to judge the conservation of the mutation. Moreover, in silico analysis was used to analyze the pathogenicity of the mutant gene. ResultsWe find a family with epilepsy, of whom patient 1 and his father are with epilepsy. Their clinical manifestations are atypical, and their seizures are all in sleep. After a long-term follow-up of two patients' drug treatments, it is found that patient 1 and patient 2 respond well to the drugs. Gene test shows that the mutations of DEPDC5 (c.484-1del c.484_485del) and KCNQ2 (c.1164A> T) are at the same site in both patient 1 and patient 2, and the mutation sites are first reported. What’more, the homologous protein alignment shows that the amino acids corresponding to the two mutant genes are highly conserved. ConclusionThis study mainly reports a family with sleep-related hypermotor epilepsy. Patients 1 and patient 2 have novel mutations of DEPDC5 and KCNQ2 genes. In the long-term follow-up of this study, it is found that the patients are effective the antiepileptic drugs.
Objective To analyze the causes of missed diagnosis of sleep apnea hypopnea syndrome ( SAHS) . Methods 42 missed diagnosed cases with SAHS from May 2009 to May 2011 were retrospectively analyzed and related literatures were reviewed. Results The SAHS patients often visited the doctors for complications of SAHS such as hypertension, diabetes mellitus, metabolic syndrome, etc. Clinical misdiagnosis rate was very high. Lack of specific symptoms during the day, complicated morbidities, and insufficient knowledge of SAHS led to the high misdiagnosis rate and the poor treatment effect of patients with SAHS. Conclusion Strengthening the educational propaganda of SAHS, detail medical history collection, and polysomnography monitoring ( PSG) as early as possible can help diagnose SAHS more accurately and reduce missed diagnosis.
高血壓是我國重點防治的心血管疾病, 血壓的控制率備受關注。在一些血壓控制不良的患者中睡眠呼吸暫停是導致頑固性高血壓的重要原因。以睡眠過程中反復、頻繁出現呼吸暫停和低通氣為特點的睡眠呼吸暫停低通氣綜合征( sleep apneahypopnea syndrome, SAHS) 自20 世紀80 年代以來也受到廣泛關注, 臨床和基礎研究取得了迅速發展。目前, 多項臨床、流行病學和基礎研究證實SAHS可以導致和/ 或加重高血壓, 與高血壓的發生發展密切相關。
Patients with autoimmune encephalitis are mainly characterized by behavioral, mental and motor abnormalities, neurological dysfunction, memory deficits and seizures. Different antibody types of autoimmune encephalitis its pathogenesis, clinical characteristics are different, in recent years found immune related epilepsy is closely related to autoimmune encephalitis, based on autoimmune encephalitis type is more, we choose more common autoimmune encephalitis, expounds its characteristics, to help clinical diagnosis.
Polysomnography (PSG) monitoring is an important method for clinical diagnosis of diseases such as insomnia, apnea and so on. In order to solve the problem of time-consuming and energy-consuming sleep stage staging of sleep disorder patients using manual frame-by-frame visual judgment PSG, this study proposed a deep learning algorithm model combining convolutional neural networks (CNN) and bidirectional gate recurrent neural networks (Bi GRU). A dynamic sparse self-attention mechanism was designed to solve the problem that gated recurrent neural networks (GRU) is difficult to obtain accurate vector representation of long-distance information. This study collected 143 overnight PSG data of patients from Shanghai Mental Health Center with sleep disorders, which were combined with 153 overnight PSG data of patients from the open-source dataset, and selected 9 electrophysiological channel signals including 6 electroencephalogram (EEG) signal channels, 2 electrooculogram (EOG) signal channels and a single mandibular electromyogram (EMG) signal channel. These data were used for model training, testing and evaluation. After cross validation, the accuracy was (84.0±2.0)%, and Cohen's kappa value was 0.77±0.50. It showed better performance than the Cohen's kappa value of physician score of 0.75±0.11. The experimental results show that the algorithm model in this paper has a high staging effect in different populations and is widely applicable. It is of great significance to assist clinicians in rapid and large-scale PSG sleep automatic staging.
ObjectiveTo investigate the effects of smoking combined with intermittent hypoxia on the pathophysiology of lung tissue and thoracic aorta, and the endothelial injury.MethodsTwenty-four rats (SPF, female, six weeks old) were divided randomly into 4 groups (n=6). The control group was given false smoking and normal oxygen exposure, the smoking-exposed group was exposed in smoking, the intermittent hypoxia group was exposed in intermittent hypoxia environment, and the overlap group was exposed to smoking and intermittent hypoxia. After 8 weeks, body weight, right ventricular hypertrophy index (RVHI), the pathological changes of lung tissue and thoracic aorta were measured, and the level of endothelin-1 (ET-1), endothelial nitric oxide synthase (eNOS), vascular endothelial growth factor (VEGF) and stromal cell-derived factor-1α (SDF-1α) in serum of rats were evaluated.ResultsRVHI of rats in the smoking-exposed group, intermittent hypoxia group, overlap group were higher than that in the control group. In addition, RVHI in the overlap group was higher than that in the smoking-exposed group, intermittent hypoxia group (all P<0.05). The levels of ET-1, VEGF and SDF-1α in the serum of the smoking-exposed group, intermittent hypoxia group and overlap group were higher than those in the control group, while the level of eNOS was lower than that in the control group, (all P<0.05), the most significant difference was between control group and the overlap group. Pathological observation of lung tissue and thoracic aorta showed obvious emphysema in the smoking-exposed group and overlap group, which was more obvious in the overlap group than that in the smoking-exposed group (all P<0.05). Lung interstitial inflammatory infiltration, bronchial wall lymphocyte hyperplasia and pulmonary fibrosis were shown in different degrees in the smoking-exposed group, intermittent hypoxia group and overlap group, and the pulmonary arteriole wall showed thickening, fibrosis and peripheral inflammatory infiltration also were found in these groups. Thoracic aorta in the smoking-exposed group, intermittent hypoxia group and overlap group showed different degrees of endothelial cell injury, middle membrane thickening, and collagen fiber hyperplasia. The pathological features of the overlap group were most obvious compared to the other two groups.ConclusionsSmoking and intermittent hypoxia exposure can lead to different degrees of lung tissue and vascular endothelial injury and decrease of vascular endothelial protective factors in rats, resulting in dysfunction of vascular endothelial cells, which leads to the structural remodeling of pulmonary arterioles and aorta, such as thickening, fibrosis, etc. Combined smoking and intermittent hypoxia exposure can lead to more serious pathological damage.
ObjectiveTo observe the correlation between obstructive sleep apnea syndrome (OSAS) and central serous chorioretinopathy (CSC).MethodsFrom October 2016 to December 2018, 50 cases of CSC patients (CSC group) and 50 healthy people (control group) matched by age and sex who were diagnosed in the ophthalmological examination of Xi’an No.3 Hospital were included in the study. According to the course of the disease, CSC was divided into acute phase and chronic phase, with 20 and 30 cases respectively. The average age (Z=1.125) and body mass index (BMI) (Z=0.937) of the two groups were compared, and the difference was not statistically significant (P＞0.05); the age of patients with different courses of CSC (Z=1.525) and gender composition ratio (χ2=0.397) and BMI (Z=1.781) were compared, the difference was not statistically significant (P＞0.05). The Berlin questionnaire was used to assess the OSAS risk of subjects in the CSC group and the control group; polysomnography was used to monitor the apnea-hypopnea index (AHI) and minimum blood oxygen saturation (MOS) during night sleep. OSAS diagnostic criteria: typical sleep snoring, daytime sleepiness, AHI (times/h) value ≥ 5. The severity of OSAS was classified as mild OSAS: 5≤AHI＜15; moderate OSAS: 15≤AHI＜30; severe OSAS: AHI≥30. Non-normally distributed measurement data were compared by rank sum test; count data were compared by χ2 test. Spearman correlation analysis was performed on the correlation between OSAS and CSC.ResultsThe AHI data in the CSC group and the control group were 17.46±3.18 and 15.72±4.48 times/h, respectively; the MOS were (83.48±4.68)% and (87.40±3.82)%, respectively; those diagnosed with OSAS were respectively 36 (72.00%, 36/50) and 13 (26.00%, 13/50) cases. AHI (Z=0.312), MOS (Z=0.145), and OSAS incidence (χ2=21.17) were compared between the two groups of subjects, and the differences were statistically significant (P=0.028, 0.001,＜0.001). The AHI of acute and chronic CSC patients were 15.95±3.02 and 18.47±2.92 times/h; the MOS were (86.10±11.07)% and (81.73±4.58)%, respectively. There were statistically significant differences in AHI (Z=0.134) and MOS (Z=0.112) in patients with different course of disease (P=0.005, 0.001). The results of Spearman correlation analysis showed that OSAS and CSC were positively correlated (r=0.312, P=0.031).ConclusionOSAS may be a risk factor for the onset of CSC.
ObjectiveTo explore the status of common comorbidities in adult epilepsy patients in western China, and to explore the related risk factors.MethodsThe Chinese version of Generalized Anxiety Disorder (GAD)-7, neurological disorders depression inventory for epilepsy (NDDI-E) scales, pittsburgh sleep quality index scale (PSQI) and epworth sleepiness scale (ESS) were used to evaluate the 199 epilepsy patients between April 2017 and March 2018 in the Epilepsy Center of Neurology Department of Sichuan People's Hospital. Logistic regression analysis was performed on the risk factors of epilepsy comorbidity.ResultsIn the 199 adult epilepsy patients, 28.1% had anxiety, 17.1% had depression, 33.2% had sleep disorder, and 2.5% had migraine. 140 patients received monotherapy, including 15 patients with carbamazepine (CBZ), 20 patients with lamotrigine (LTG), 26 patients with levetiracetam (LEV), 31 patients with topiramate (TPM), 25 patients with oxcarbazepine (OXC), and 23 patients with Valproate (VPA).Multivariate logistic regression analysis of epilepsy patients treated with monotherapy showed that seizure occurring more than once a month, LEV, TPM, sleep disorders were independent risk factors for anxiety in patients with epilepsy (P<0.05). Unemployment, seizure occurrence in the last three months, sleep disorders were independent risk factors for comorbid depression (P<0.05). Anxiety, depression, daytime sleepiness, CBZ, LTG were independent risk factors for comorbid sleep disorders (P<0.05).ConclusionsAnxiety, depression and sleep disorder are common comorbidities in adults with epilepsy in westChina. For patients with affective disorder and sleep disorder, early identification and intervention may be important to improve the quality of life and prognosis of patients. In addition, patients treated with LEV or TPM monotherapy had a higher risk of anxiety than other drugs. Patients with LTG and CBZ monotherapy are more likely to comorbid sleep disorders.
Objective To investigate whether the sleep-induced hypoxemia ( SIH) at different time and different level have different effects on pulmonary emphysema and coagulation systemfunction in the rats with pulmonary emphysema. Methods Thirty Wistar rats were randomly divided into three groups( n = 10 in each group) . All rats were exposed to cigarette smoke twice a day ( 30 min each time) . From29th day on, the rats in Group A ( pulmonary emphysema with short SIH) were also exposed to mixed gas of 12. 5% oxygen for 1. 5 hours during sleeping time every day ( the expose time was divided into 4 periods, 22. 5 min each) . The rats in Group B ( pulmonary emphysema with mild SIH) were also exposed to mixed gas of 15% oxygen for three hours during sleeping time every day( the expose time was divided into 4 periods, 45 min each) . The rats in Group C( pulmonary emphysema with standard SIH) were also exposed to mixed gas of 12. 5% oxygen for three hours during sleeping time every day( the expose time was divided into 4 periods,45 min each) . After continuous exposure for 56 days, the rats were sacrificed. Semi-quantitative image analytic method was employed for histopathological analysis including pathological score of lungs, mean linear intercept ( MLI) and mean alveolus number( MAN) . ATⅢ, FIB, vWF, FⅧ were measured. Results All animals in three groups manifested the histopathological features of emphysema. Pathological scores of lungs and MLI of every group were significantly different from each other( F = 21. 907, F = 18. 415, all P lt; 0. 05) , Group A [ ( 61. 90 ±4. 25) % , ( 92. 45 ±1. 78) μm] and Group B[ ( 64. 60 ±3. 95) % , ( 92. 80 ±3. 65) μm] were significantly lower than Group C[ ( 73. 30 ±3. 86) % , ( 99. 32 ±2. 81) μm, q= 8. 96, q =6. 84, q = 12. 64, q =9. 65, all P lt; 0. 05] . Levels of FIB were significantly different among three groups ( F = 20. 592, P lt; 0. 05) while FIB in Group A[ ( 189. 98 ±5. 29) mg/ dL] and Group B[ ( 182. 70 ±2. 78) mg /dL] were significantly lower than that in Group C[ ( 198. 40 ±7. 37) mg/ dL, q = 4. 86, q= 9. 07, all P lt; 0. 05] , and FIB in Group A was significantly higher than that in Group B( q = 4. 20, P lt; 0. 05) . Levels of FⅧ were significantly different from each other( F = 33. 652, P lt;0. 05) while FⅧ in Group A[ ( 232. 26 ±4. 17) % ]and Group B[ ( 242. 53 ±14. 50) % ] were significantly lower than that in Group C[ ( 303. 25 ±32. 93) % ,q= 10. 73, q = 9. 18, all P lt; 0. 05] . Conclusions Pulmonary emphysema and hypercoagulable states increases with time and severity of SIH in rats with pulmonary emphysema. The elevated activity of blood coagulation factor may be a critical role in the hypercoagulable states.
Objective To explore the influencing factors of sleep quality of the elderly in Chengdu community and put forward corresponding nursing strategies. Methods The elderly in four communities in Chengdu were selected by convenient sampling method from January to June 2021. The elderly in the community were investigated and analyzed by general information questionnaire, Interpersonal Relationship Integrative Diagnostic Scale (IRIDS) and Pittsburgh Sleep Quality Index (PSQI). Multiple linear stepwise regression was used to analyze the factors affecting the sleep quality of the elderly. Results A total of 232 elderly were investigated and 211 were finally included. The total score of PSQI in the elderly was positively correlated with the score of interpersonal conversation disturbance (r=0.297, P<0.05) and the score of treating people disturbance (r=0.208, P<0.05). The results of multiple linear stepwise regression analysis showed that physical exercise, monthly amount of money, education and four dimensions of interpersonal troubles were the main influencing factors of sleep quality in the elderly. Conclusions The community elderly in this study had better sleep quality. Physical exercise, monthly amount of money, education and four dimensions of interpersonal troubles were all important factors affecting the sleep quality of the elderly. Community nursing staff should pay more attention to the sleep quality of the elderly, put forward measures to improve the related factors leading to sleep disorders, encourage the elderly to take physical exercise. They should also provide psychological counseling and interpersonal communication skills for the elderly with interpersonal troubles and help expand the communication platform to improve sleep quality of the elderly in the community.