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4.
Artigo em Chinês | MEDLINE | ID: mdl-35483682

RESUMO

Objective:To analyze the related factors of secondary erythrocytosis of obstructive sleep apnea(OSA) in Gansu province. Methods:Polysomnography recording and analysis from January 2013 to January 2021, A total of 448 OSA patients of long-resident Han nationality in Gansu province. Hemoglobin(Hb) values were divided into group A(Hb 120-160 g/L) 41 cases, B(Hb 161-179 g/L) 142 cases, C(Hb 180-199 g/L) 152 cases, D(Hb 200-219 g/L) 79 cases, and E(Hb ≥220 g/L) 30 cases. General clinical data, altitude of residence, disease course, apnea hypopnea index (AHI), and Lowest oxyhemoglobin(LSpO2) were compared among these groups. Multivariate regression and ROC curves were used to analyze the influencing factors of OSA secondary erythrocytosis. Results:There were no significant differences in age, sex, and course of disease among groups A, B, C, D, and E (P>0.05).The altitude of group E was higher than that of groups A, B, C, and D (P<0.05), but there was no significant difference between groups A, B, C and D (P>0.05).AHI was significantly different among groups A, B, C, D, and E (P<0.05), groups C, D, and E were significantly higher than A; group D was significantly higher than B, C.LSpO2 was significantly different among groups A, B, C, D, and E (P <0.05), groups B, C, D, and E was significantly lower than A; group D, E was significantly lower than B, C.MSpO2 was significantly different among groups A, B, C, D, and E (P<0.05), groups B, C, D, and E was significantly lower A; groups D, E was significantly lower than B , C.Multivariate regression showed that the higher the altitude, the lower the MSpO2, the more serious the secondary hyperhemoglobinemia.Age, course of the disease, AHI, and LSpO2 were not the influencing factors of OSA secondary hemoglobin increase.The areas under the ROC curve for MSpO2 and altitude to predict Hb≥180 g/L were 0.694(P<0.001) and 0.570(P=0.009), with statistically significant differences(Z=3.205, P=0.001). Conclusion:Altitude and MSpO2 were independent risk factors for OSA secondary erythrocytosis; MSpO2 predicted that Hb≥180 g/L in OSA patients was better than altitude.


Assuntos
Policitemia , Apneia Obstrutiva do Sono , Humanos , Policitemia/complicações , Polissonografia , Curva ROC , Apneia Obstrutiva do Sono/complicações , Síndrome
5.
Intern Med J ; 51(5): 732-738, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-32149434

RESUMO

BACKGROUND: Primary insomnia is a worldwide problem and it has a considerable negative impact on one's physical and mental health. Studies have shown that non-synonymous Single-nucleotide polymorphisms in 5-hydroxytryptamine (serotonin or 5-HT) are related to primary insomnia. Previous studies have shown that 5-HT polymorphism (rs140700) is related to depression, and insomnia is often accompanied by depression and anxiety. The relationship between this site and primary insomnia is unknown. We speculated that this site may be related to primary insomnia, so we investigated the relationship between rs140700 and primary insomnia. AIMS: To explore the relationship between the 5-HT gene polymorphism rs140700 and primary insomnia. METHODS: In this study, we included 57 patients with primary insomnia and 54 age- and gender-matched normal controls. The subjects who belonged to the Chinese population were subjected to polysomnography for three consecutive nights. Their sleep quality was assessed, and the genotypes of the 5-hydroxytryptamine (5-HT) gene polymorphism rs140700 were determined by the flight mass spectrometry. RESULTS: The genotype distributions of the 5-HT gene polymorphism rs140700 were in Hardy-Weinberg equilibrium in both patients and controls (P > 0.05). The allele and genotype distributions of this variant were comparable between the patients and controls in all subjects and between genders (all P > 0.05). The influence of rs140700 on percentage of stage 1 (P = 0.015) change and arousal index (P = 0.028) of primary insomnia was statistically significant. The logistic multi-factor regression analysis results revealed that 5-HT gene polymorphism rs140700 was not a risk factor for primary insomnia in the Chinese population (P = 0.589). CONCLUSIONS: The 5-HT gene polymorphism rs140700 may not be a susceptibility locus for primary insomnia in the Chinese population.


Assuntos
Proteínas da Membrana Plasmática de Transporte de Serotonina/genética , Serotonina , Distúrbios do Início e da Manutenção do Sono , Alelos , Povo Asiático/genética , Estudos de Casos e Controles , China/epidemiologia , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Distúrbios do Início e da Manutenção do Sono/epidemiologia , Distúrbios do Início e da Manutenção do Sono/genética
6.
Medicine (Baltimore) ; 99(34): e21598, 2020 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-32846769

RESUMO

Neuropeptide S and neuropeptide S receptor (NPSR1) are associated with sleep regulation. Herein, the possible contribution of 6 polymorphisms in NPSR1 on the chromosome to primary insomnia (PI) and objective sleep phenotypes was investigated.The study included 157 patients with PI and 133 age- and sex-matched controls. All subjects were investigated by polysomnography for 3 consecutive nights. The genotyping of 6 polymorphisms was carried out by polymerase chain reaction-restriction fragment length polymorphism method.A significant difference was detected for rs324957 and rs324981 between PI and controls. The PI patients had a higher frequency of AA than controls in rs324957 (P = .02) and rs324981 (P = .04). However, for other single nucleotide polymorphisms (rs323922, rs324377, rs324396, and rs324987), no significant differences were observed between PI patients and controls. There were 2 different allelic combinations that were associated with PI susceptibility (CATGTC, GCCAAT) and its risk factor. A significant difference in sleep latency was observed among 3 genotype carriers of NPSR1 gene polymorphism rs324957 in PI group (P = .04), with carriers of the A/A genotype having the longest sleep latency (mean ±â€ŠSD: 114.80 ±â€Š58.27), followed by the A/G genotype (112.77 ±â€Š46.54) and the G/G genotype (92.12 ±â€Š42.72).This study provided the evidence that the NPSR1 gene polymorphisms (rs324957, rs324981) might be susceptibility loci for PI. Further studies are needed to explore the role of NPSR1 gene polymorphisms in molecular mechanisms of PI in a larger sample size.


Assuntos
Polimorfismo de Nucleotídeo Único , Receptores Acoplados a Proteínas G/genética , Distúrbios do Início e da Manutenção do Sono/epidemiologia , Distúrbios do Início e da Manutenção do Sono/genética , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Medição de Risco
7.
Artigo em Chinês | MEDLINE | ID: mdl-27373092

RESUMO

OBJECTIVE: To investigate the significance of tumor necrosis factor-alpha (TNF-α) and plasma endothelium (ET) in pathophysiologic process of patients with obstructive sleep apnea hypopnea syndrome(OSAHS) with type 2 diabetes mellitus (T2DM). METHOD: All observed subjects were divided into 4 groups. A number of 80 patients with OSAHS, 65 cases of OSAHS with T2DM patients, 20 patients with T2DM, and 32 cases of healthy control group were observed in this study. The serum levels of TNF-α and ET were detected by double antibody sandwich ELISA, the content of TNF-α and ET were compared between OSAHS group and OSAHS + T2DM group. It were also compared before and after treatment of CPAP or surgery. RESULT: TNF-α level is higher in OSAHS+T2DM group than that in the OSAHS group, T2DM group and the control group (P < 0.05); TNF-α level in OSAHS group and the T2DM group are higher than that in the control group (P < 0.05), but there was no difference in TNF-α level between the OSAHS group and the T2DM group. There was also no difference in ET level of the four groups. There were significant differences of TNF-α before and after treatment of CPAP or surgery in OSAHS group and OSAHS+T2DM group (P < 0.05). But there was no significant differences of ET before and after treatment of CPAP or surgery in the OSAHS+T2DM group (P > 0.05). CONCLUSION: TNF-α may be involved in the development of OSAHS and T2DM, while ET may have little effect on the occurrence and development of OSAHS and T2DM.


Assuntos
Diabetes Mellitus Tipo 2/sangue , Endotelinas/sangue , Apneia Obstrutiva do Sono/sangue , Fator de Necrose Tumoral alfa/sangue , Anticorpos , Diabetes Mellitus Tipo 2/complicações , Ensaio de Imunoadsorção Enzimática , Humanos , Apneia Obstrutiva do Sono/complicações
8.
Am J Med Sci ; 351(2): 160-8, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26897271

RESUMO

BACKGROUND: Our purpose was to investigate the relationship between oxygen saturation (SpO2) and dynamic interstitial glucose level (IGL) in patients with obstructive sleep apnea (OSA) along with type 2 diabetes mellitus (T2DM), and to investigate the potential mechanisms thereof. MATERIALS AND METHODS: A total of 130 patients with OSA and T2DM underwent polysomnography and oral glucose tolerance tests at the Sleep Medicine Center. Using the lowest (L) SpO2% tested, patients were divided into mild, moderate and severe LSpO2 groups. Polysomnography and continuous glucose monitoring systems were used to analyze the altered pattern of SpO2 and dynamic IGL in the 3 groups. RESULTS: LSpO2 during sleep in patients with OSA and T2DM stimulated an increase in IGL. The moderate and severe levels were represented by IGL45 and IGL30, respectively. The average nocturnal and peak IGL after LSpO2 in the severe group were significantly higher than in the mild and moderate groups. Stepwise multiple regression analysis showed that the body mass index (ß = 0.301, P < 0.001), homeostatic model assessment of insulin resistance (ß = 0.260, P < 0.001), apnea-hypopnea index (ß = 0.309, P < 0.001), average SpO2 (ß = -0.423, P = 0.008), LSpO2 (ß = -0.369, P < 0.001) and microarousal index (ß = 0.335, P = 0.044) were probably related to nocturnal IGL in patients with OSA along with T2DM. CONCLUSIONS: Severe and moderate OSA with T2DM is marked by a delayed IGL peak following LSpO2. Nocturnal hypoxemia causes hyperglycemia in patients with OSA along with T2DM.


Assuntos
Diabetes Mellitus Tipo 2/epidemiologia , Hiperglicemia/epidemiologia , Hipóxia/epidemiologia , Apneia Obstrutiva do Sono/epidemiologia , Adulto , Idoso , China/epidemiologia , Comorbidade , Estudos Transversais , Diabetes Mellitus Tipo 2/etiologia , Líquido Extracelular/química , Feminino , Glucose/metabolismo , Teste de Tolerância a Glucose , Humanos , Hiperglicemia/etiologia , Hipóxia/etiologia , Masculino , Pessoa de Meia-Idade , Polissonografia , Prevalência , Apneia Obstrutiva do Sono/etiologia
9.
Artigo em Chinês | MEDLINE | ID: mdl-26211153

RESUMO

OBJECTIVE: To investigate the therapeutic effects of oral modified device combined with nasopharyngeal enlargement surgery and evaluate the oral modified device' s adjuvant therapy meaning in severe OSAHS patients after surgery treatment. METHOD: 46 cases with severe OSAHS were diagnosed by PSG according to AHI and the lowest arterial oxygen saturation (LSaO2). We performed the nasal or pharyngeal cavity expansion surgery for them according to the pathological change part correspondingly. Then all subjects were divided into combined group (n=26) and surgery alone group (n=20) according to their personal willingness. We monitored the PSG for all subjects aftter 2 weeks and 3 months respectively, then we calculate the diversity between the two group or intragroup change on the basis of the AHI, LAT, LSaO2, mean arterial oxygen saturation (MSaO2) and sleep structures recorded by PSG. At the same time, we collected the subjective sensations by questionnaire. RESULT: The AHI and LAT in combined group were significantly lower and LSaO2 was significantly higher than these in surgery alone group(P<0. 05), and it's no difference in MSO2 between the two groups (P>0. 05). The N 1% was more shorter and the N2% and N3% were more longer after nasal or pharyngeal operation compared with pre-operative states in both groups(P<. 05), but we didn't find difference in REM%(P>. 05). The data of PSG also showed that the shallow sleep proportion was more shorter and the slow wave sleep proportion was more longer in combined group compared with surgery alone group. The subjective sensations results also showed significantly alleviated in combined group, such as mental state, daytime sleepiness and physical strength. The efficiency ratio of treatment was 85. 0% and 92. 3% in surgery alone group and combined group respectively. CONCLUSION: Nasal and pharyngeal cavity enlargement surgery combined with oral modified device is a more effective treatment in patients with severe OSAHS, and it is meaningful for the long-term curative effect of surgery to prevent relapse and improve.


Assuntos
Nasofaringe/cirurgia , Nariz/cirurgia , Procedimentos Cirúrgicos Otorrinolaringológicos , Apneia Obstrutiva do Sono/cirurgia , Humanos , Oximetria , Sensação , Sono , Fases do Sono , Resultado do Tratamento
10.
Zhonghua Yi Xue Za Zhi ; 95(10): 761-5, 2015 Mar 17.
Artigo em Chinês | MEDLINE | ID: mdl-26080849

RESUMO

OBJECTIVE: To evaluate the efficacies of a modified oral appliance (MOA) for residual obstruction after uvulopalatopharyngoplasty (UPPP) in the treatment of moderate-to-severe obstructive sleep apnea hypopnea syndrome (OSAHS). METHODS: The patients with residual airway obstruction on polysomnography (PSG) at four weeks post-UPPP were selected from the Sleep Medicine Center, Gansu Provincial People's Hospital from October 2013 to February 2014. As of week 5 post-UPPP, all subjects wore MOA for 4 weeks. Before and 4 weeks after treatment, questionnaires were distributed to evaluated the improvement of subjective and objective sleep. The average apnea hyponea index (AHI) and sleep patterns were examined by PSG. The sagittal diameter in minimal region of retropalatal and retroglossal patency and the volume of orophary were measured by cone beam computed tomography (CBCT) scans. And the correlation between the outcomes of CBCT and AHI were analyzed. RESULTS: A total of 10 male OSAHS patients were enrolled. The average age was (42.4 ± 9.2) (31-55) years, body mass index (BMI) (25.0 ± 4.8) (22.8-29.4) kg/m² and AHI was (26.0 ± 7.5) (15.8-35.9)/h. After wearing MOA for 4 weeks, the symptoms of snoring, daytime somnolence and suffocated waking during sleep improved as compared with that pre-treatment. All adapted to sleep with MOA. Average AHI decreased from (26.0 ± 7.5)/h to (6.0 ± 0.7)/h (P < 0.001). And the lowest average oxygen saturation value (SaO2) increased from (79.6 ± 3.9)% to (87.6 ± 1.6)% (P < 0.001). PSG indicated that the percentage of awakening time and sleep time in nonrapid eye movement (NREM) stage 1 decreased from (11.0 ± 2.3)% and (26.1 ± 4.3)% to (6.8 ± 1.6)% and (11.1 ± 1.5)% respectively in total sleep time (TST). The percentage of NREM stage3 sleep time and rapid eye movement (REM) sleep time in TST increased on average from (10.2 ± 2.2)% and (11.6 ± 1.4)% to (17.7 ± 3.1)% and (21.3 ± 3.1)% respectively (all P < 0.001). CBCT measurements showed that the sagittal diameter in minimal region of retropalatal and retroglossal patency increased on average by (0.64 ± 0.04) and (1.51 ± 0.18) mm respectively. The average volume of orophary increased by (2 446 ± 963) mm³ (all P < 0.05). Negative correlations existed between AHI and sagittal diameter of minimal region of retroglossal patency, AHI and volume of orophary (all P < 0.05). CONCLUSION: The application of MOA after UPPP can significantly increase the sagittal diameter of minimal region of retroglossal patency and the volume of orophary and improve effectively hyperpnoea and disordered sleep patterns.


Assuntos
Apneia Obstrutiva do Sono , Úvula , Adulto , Índice de Massa Corporal , Tomografia Computadorizada de Feixe Cônico , Humanos , Masculino , Pessoa de Meia-Idade , Palato , Faringe , Polissonografia , Fases do Sono , Ronco , Inquéritos e Questionários
11.
Artigo em Chinês | MEDLINE | ID: mdl-26999847

RESUMO

OBJECTIVE: To explore the changes of serum interleukin-6 (IL-6) level in patients with obstructive sleep apnea hypopnea syndrome (OSAHS) and OSAHS associated type 2 diabetes mellitus (T2DM) and their significance. METHOD: All observed subjects were divided into 3 groups: 20 cases of normal subjects, 35 cases of simple OSAHS patients, 48 cases of OSAHS associated T2DM patients, IL-6 concentrations of serum were measured by the enzyme-linked immunosorbent. RESULT: IL-6 level was higher in the group of OSAHS with T2DM than the group of OSAHS and the healthy control group (P < 0.05); IL-6 level was higher in the simple OSAHS group than the healthy controls. CONCLUSION: IL-6 and other inflammatory factors may involved pathological physiological process in OSAHS patients sugar metabolic abnormalities; and is associated with the development of OSAHS associated with type 2 diabetes.


Assuntos
Diabetes Mellitus Tipo 2/sangue , Interleucina-6/sangue , Apneia Obstrutiva do Sono/sangue , Estudos de Casos e Controles , Diabetes Mellitus Tipo 2/complicações , Humanos , Apneia Obstrutiva do Sono/complicações
12.
Artigo em Chinês | MEDLINE | ID: mdl-26930906

RESUMO

OBJECTIVE: To observe the clinical effect of nasal surgical expansion as basical surgical treatment of patients with OSAHS. METHOD: A total of 320 patients with OSAHS were retrospectively analyzed. The patient was diagnosed by PSG. The electronic nasopharyngolarygnoscope exam airway CT, and MRI were applied to determining the nasal plane block. According to the concrete reasons, the nasal endoscopic nasal septum corrective surgery and open surgery were carried out, respectively. Nasal sinus neoplasm resection of off shoring, inferior turbinate fracture surgery or inferior turbinate back-end 1/3 line expansion and low temperature plasma ablation of nasal surgery, respectively. Pittsburgh sleep quality index (PSQI), snore outcome survey (SOS), epworth sleepiness score (ESS), the lowest arterial oxygen saturation (LSaO2) and AHI, time and ratio of slow wave sleep (SWS) stage and rapid eye movement (REM) stage were applied to comparing the curative effect between pre-operation and post-operation periods. RESULT: Snoring, sleep apnea, subjective mental symptoms of all patients with OSAHS were improved after operation; PSQI, SOS and ESS score were improved compared to pretreatment (P < 0.05); according to the 2009 OSAHS diagnosis and curative effect evaluation standard, 38 cases cured, 189 cases had obvious effect, 93 cases effective, and the total effective rate was 100%; there was statistical difference between the pre-operative period and 6 months post-operative in PSQI, SOS and ESS, LSaO2, AHI and proportion of REM (P < 0.05); sleep structure was improved, time and proportion of SWS were increased after the operation (P < 0.05). CONCLUSION: Solving the problem of nasal airway obstruction is the first step in surgical treatment of patients with OSAHS.


Assuntos
Septo Nasal/cirurgia , Procedimentos Cirúrgicos Nasais , Apneia Obstrutiva do Sono/cirurgia , Endoscopia , Humanos , Obstrução Nasal , Oximetria , Neoplasias dos Seios Paranasais/cirurgia , Seios Paranasais/patologia , Procedimentos de Cirurgia Plástica , Estudos Retrospectivos , Fases do Sono , Sono REM , Ronco , Conchas Nasais/cirurgia
13.
Artigo em Chinês | MEDLINE | ID: mdl-27101675

RESUMO

OBJECTIVE: To evaluate the curative effect of continuous positive airway pressure(CPAP) combined with modified oral appliance (MOA) in the treatment of severe OSAHS. METHOD: The research chose 120 male patients with severe OSAHS. They were treated with CPAP and MOA (30 cases), CPAP (30 cases), and MOA (30 cases) respectively. At the same time, the rest 30 cases without any treatment were in control group (matching factors: age, gender, IBM). After 3 months treatment, the characteristics of PSG and respiratory machine wear condition were observated in four groups. RESULT: The ESS score in CPAP and MOA group was significantly lower than that in other groups (P < 0.05); After 3 months treatment, the AHI, awake index (AI), and Ni (non-rapid eyemovement sleep1, N1) and N2 (non-rapid eye movement sleep2, N2) period of total sleep time (TST) percentage in CPAP assisted MOA group and CPAP group were significantly lower than that in MOA group and control group (P < 0.05); Sleep efficiency, ESS score, average blood oxygen saturation (MSaO2), the lowest oxygen saturation (LSaO2), slow wave sleep phases (SWS) and rapid eyemovement sleep (REM) accounted for the proportion of TST increased significantly (P < 0.05); There was no significant difference between CPAP assisted MOA group and CPAP group in AHI, MSaO2, AI, sleep efficiency, N1, N2, SWS and REM percentage of TST and ESS score. The LSaO2 and average machine time in CPAP assisted MOA group were significantly greater than that in CPAP group (P < 0.05), but 90% pressure and average air leakage were significantly lower in the CPAP group (P < 0.05) CONCLUSION: The curative effect of CPCR combined with modified oral appliance was better than CPCR or MOA alone in the treatment of severe OSAHS.


Assuntos
Pressão Positiva Contínua nas Vias Aéreas , Apneia Obstrutiva do Sono/terapia , Humanos , Masculino , Oximetria , Sono
14.
Zhonghua Yi Xue Za Zhi ; 95(44): 3579-83, 2015 Nov 24.
Artigo em Chinês | MEDLINE | ID: mdl-26813368

RESUMO

OBJECTIVE: To investigate the characteristic of dynamic glucose level in obstructive sleep apnea-hypopnea syndrome (OSAHS) patients with newly diagnosed type 2 diabetes mellitus (T2DM) and to evaluate the effect of continuous positive airway pressure (CPAP) treatment on the glucose level. METHODS: A total of 65 cases of patients with T2DM who were newly diagnosed by oral glucose tolerance test (OGTT) were enrolled from April 2014 to April 2015 in Gansu Provincial Hospital, and divided into simple T2DM group (n=30) and OSAHS with T2DM group (n=35) according to aponea-hypopnea index (AHI) which was monitored by polysomnography (PSG). Their general clinical data were collected, and glucose level of different periods was monitored by continuous glucose moitoring system (CGMS). Changes of glucose level were compared between two groups before and after CPAP treatment. RESULTS: Age, gender proportion, BMI, smoking and drinking history, glycosylated hemoglobin (HbA1c) and blood lipid profile had no significantly difference between two groups. Longer neck circumstance and higher waist-hip ration (WHR), higher systolic blood pressure and diastolic blood pressure, higher fasting plasma glucose (FPG) [(9.4 ± 3.2) vs (7.3 ± 2.1) mmol/L, P=0.028] and fasting insulin (FINS) [(19.2 ± 8.7) vs (11.1 ± 4.7) mU/L, P=0.044] level, more serious homeostasis model assessment insulin resistance (HOMA-IR) were found in OSAHS patients with T2DM when compared to patients in simple T2DM group. The average dynamic glucose level of 24 hours, daytime, nocturnal and sleep time in OSAHS with T2DM group were higher than that in the simple T2DM group (all P<0.05). The alarming times when the average dynamic glucose level of nocturnal time was more than 0.1 mmol·L⁻¹·min⁻¹ in T2DM with OSAHS was more than that in control group (P=0.001). After treatment of CPAP, the level of AHI [(5.9 ± 3.6) vs (56.7 ± 11.4) times/h, P<0.001], average dynamic glucose level of 24 hours, day, nocturnal and sleep time were obviously decreased (all P<0.05); lowest saturation oxygen (LSpO2) was significantly increased [(92.3 ± 3.7)% vs (81.5 ± 20.2)%, P<0.001]; the alarming times and HOMA-IR were obviously decreased (P=0.019, 0.043). According to multiple linear regression analysis, the AHI (ß=0.736, P<0.001) in OSAHS with T2DM group was positively related to the average dynamic glucose level during sleep time, but the LSpO2(ß=-0.889, P<0.001) was negatively correlated. CONCLUSIONS: OSAHS patients with newly diagnosed T2DM have higher glucose level than that in simple T2DM patients, and CPAP therapy can obviously decrease the glucose level in newly diagnosed T2DM patients with OSAHS. AHI and LSpO2may influence the average dynamic glucose level during sleep time.


Assuntos
Pressão Positiva Contínua nas Vias Aéreas , Diabetes Mellitus Tipo 2 , Pressão Sanguínea , Glucose , Teste de Tolerância a Glucose , Hemoglobinas Glicadas , Humanos , Insulina , Resistência à Insulina , Polissonografia , Sono , Apneia Obstrutiva do Sono
15.
Artigo em Chinês | MEDLINE | ID: mdl-19558853

RESUMO

OBJECTIVE: To investigate the genetic etiologies in the 0- 3-years-old infants with hearing loss and to analyze the interaction between genetics and environmental factors. METHODS: Total of 130 infants were performed detailed audiological evaluation as well as the detection of the popular deafness gene mutations in GJB2 gene, SLC26A4 and mtDNA12SrRNA. Of them, 84 cases were performed the computer tomography or magnetic resonance imaging examinations. RESULTS: Of the 130 cases, 54 infants were diagnosed as large vestibular aqueduct syndrome, while seven of 130 were as auditory neuropathy and the others were diagnosed as sensorineural hearing loss. Considering of the risks of etiologies for hearing loss, 85 of them had the experiences of the high risk factors at birth (65.4%, 85/130), while 23 of them had the exposure of aminoglycoside antibiotics, and 13 had the family history background as well as two cases were from the consanguineous families. In the causative genes screening, 42 infants were caused by the mutations of SLC26A4 gene (32.3%), but 14 infants found the mutations in GJB2 gene (4.6%), and no infants carried the mutation in mtDNA 12SrRNA 1555G and 1494T points in our studies. CONCLUSIONS: In our studies, about 36.9% infants hearing loss cases can be found the mutations in SLC26A4 and GJB2 genes. It is essential to put the idea into the hearing evaluation combined with genetic testing for the diagnoses of hearing loss. It is also helpful for exploring the etiologies of hearing loss and performing the target genetic consulting for decreasing the prevalence of deafness in the future.


Assuntos
Perda Auditiva/diagnóstico , Perda Auditiva/genética , Pré-Escolar , Conexina 26 , Conexinas/genética , DNA Mitocondrial/genética , Feminino , Testes Genéticos , Perda Auditiva/etiologia , Testes Auditivos , Humanos , Lactente , Masculino , Proteínas de Membrana Transportadoras/genética , RNA Ribossômico/genética , Transportadores de Sulfato
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