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2.
Article Zh | MEDLINE | ID: mdl-38811174

Objective: The purpose of this study was to analyze the clinical characteristics of auditory neuropathy (AN) patients with normal hearing or mild hearing loss. Methods: Data from Multicenter Study on Clinical Diagnosis and Intervention of Acoustic Neuropathy (registration number: ChiCTR2100050125). According to the Chinese clinical practice guideline of auditory neuropathy (version 2022), these patients divided into two groups: the normal hearing group (PTA Normal, PTAN group, the average hearing threshold<20 dB HL) and the mild hearing loss group (PTA Mild hearing loss, PTAM group, the average hearing threshold between 20-35 dBHL). The audiology characteristics, clinical features, and follow-up were analyzed. Data analysis was conducted using GraphPad Prism 8 and SPSS 20.0 software. Results: A total of 75 AN with normal hearing or mild hearing loss were included in this study. The PTAN group consisted of 19 patients (38 ears), including 12 males and 7 females. The average onset age was (16.9±4.5) years old, while the test age was (22.1±5.8) years old for PTAN group. The PTAM group consisted of 56 patients (112 ears), including 29 males and 27 females. The average onset age was (16.2±7.9) years old, while the test age was (23.9±9.0) yeas old for PTAM group. The average hearing threshold of low frequency (0.125-0.5 kHz) was significantly decreased. ABR disappeared in 86.00% (126/150) of the patients. The speech recognition rate was 71.80±22.44% in the PTAN group and 58.08±29.28% in the PTAM group.-SP/AP was 0.98±0.47 in the PTAN and 1.07±0.63 in PTAM group; 40 (53.33%) patients had tinnitus. 29 patients (58 ears) were followed up, including 10 patients (20 ears) in the PTAN group and 19 patients (38 ears) in the PTAM group. There was no significant change in hearing threshold in short-term follow-up (<3 years). With the extension of the disease duration (>3 years), the PTAN group tended to decrease at low frequency, and the PTAM group decreased at high frequency first. The hearing threshold at 0.25 kHz in the PTAN group and 4 kHz in the PTAM group decreased significantly. Conclusions: AN patients with normal hearing or mild hearing loss exhibit abnormal results in audiological examination results, including ABR, electrocochleography and speech discrimination score. A combination of audiological tests should be used to make the diagnosis of AN. With the progression of the disease, AN with normal hearing or mild hearing loss tends to decrease.


Audiometry, Pure-Tone , Auditory Threshold , Hearing Loss, Central , Humans , Hearing Loss, Central/diagnosis , Hearing Loss, Central/physiopathology , Male , Female , Adult , Young Adult , Adolescent , Hearing Loss/diagnosis , Hearing Loss/physiopathology , Child , Middle Aged
3.
Article Zh | MEDLINE | ID: mdl-38811176

Objective: To compare the differences between the variation interpretation standards and guidelines issued by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) in 2015 (The 2015ACMG/AMP guideline) and the Deafness Specialist Group of the Clinical Genome Resource (ClinGen) in 2018 for hereditary hearing loss (Healing loss, HL) issued the expert specification of the variation interpretation guide (The 2018 HL-EP guideline) in evaluating the pathogenicity of OTOF gene variation in patients with auditory neuropathy. Methods: Thirty-eight auditory neuropathy patients with OTOF gene variant were selected as the study subjects (23 males and 15 females, aged 0.3-25.9 years). Using whole-genome sequencing, whole exome sequencing or target region sequencing (Panel) combined with Sanger sequencing, 38 cases were found to carry more than two OTOF mutation sites. A total of 59 candidate variants were independently interpreted based on the 2015 ACMG/AMP guideline and 2018 HL-EP guideline. Compared with the judgment results in 2015 ACMG/AMP guideline, the variants interpreted as lower pathogenic classifications in the 2018 HL-EP guideline were defined as downgraded variants, and the variants regarded as higher pathogenic classifications were defined as upgraded variants. Statistical analysis was conducted using SPSS 20.0. Results: The concordance rate of variant classification between the guidelines was 72.9%(43/59). The 13.6%(8/59) of variants were upgraded and 13.6% (8/59) of variants downgraded in the classifications of the 2018 HL-EP guideline. A couple of rules saw significant differences between the guidelines (PVS1, PM3, PP2, PP3 and PP5). The distribution of pathogenicity of splicing mutation was statistically different (P=0.013). Conclusions: The 2018 HL-EP guideline is inconsistent with the 2015 ACMG/AMP guideline, when judging the pathogenicity of OTOF gene variants in patients with auditory neuropathy. Through the deletion and refinement of evidence and the breaking of solidification thinking, the 2018 HL-EP guideline makes the pathogenicity grading more traceable and improves the credibility.


Hearing Loss, Central , Membrane Proteins , Mutation , Humans , Female , Male , Hearing Loss, Central/genetics , Child , Adult , Adolescent , Child, Preschool , Infant , Membrane Proteins/genetics , Young Adult , Genetic Variation , Exome Sequencing , Genetic Testing/methods , Whole Genome Sequencing/methods , Genomics/methods
4.
Article Zh | MEDLINE | ID: mdl-38811172

Objective: The purpose of this study was to investigate the characteristics of distortion product otoacoustic emissions (DPOAE) in patients with auditory neuropathy (AN). The factors affecting DPOAE elicitation rate of each frequency, elicitation rate of each ear and change rate of first and last diagnosis in the natural course were analyzed. Methods: The sample was obtained from the Multicenter Study on Clinical Diagnosis and Intervention of AN (registration number: ChiCTR2100050125), and the diagnostic criteria for AN were based on the Chinese Clinical Practice Guidelines of Auditory Neuropathy (version 2022). Patients with bilateral AN who underwent 2 or more DPOAE tests were screened and divided into infant groups (≤3 years old) and non-infant groups (>3 years old) according to the age of detection, and the trend of DPOAE elicitation rate of each frequency, elicitation rate of each ear and change rate in the natural course of disease were analyzed, in order to explore the relevant influencing factors. Results: A total of 165 patients (330 ears) with AN were included in the study. The overall DPOAE elicitation rate per ear was 77.0%±29.4% at the initial diagnosis and 65.1%±35.2% at the final diagnosis, with a reduction observed in the elicitation rate of 171 ears (51.82%). In the infant group, there were 49 cases (98 ears), including 28 males and 21 females, whose found age ranged from 0 to 3 years old, with a median age of 0.7 years. DPOAE elicitation rate per ear was 57.9%±35.5% in the initial diagnosis, and 32.4%±32.1% in the final diagnosis, with a reduction observed in the elicitation rate of 69 ears (70.41%). In the non-infant group, there were 116 cases (232 ears), including 59 males and 57 females, ranging in found age from 3.9 to 40 years old, with a median age of 14 years old. DPOAE elicitation rate per ear was 84.6%±23.4% in the initial diagnosis, and 78.3%±27.1% in the final diagnosis, with a reduction observed in the elicitation rate of 102 ears (43.97%). Age was found to be correlated with DPOAE changes by multicategorical unordered logistic regression analysis (B=-0.224, OR=0.799, P<0.001). Conclusions: The elicitation rate of DPOAE in AN patients decreases or even disappears with increasing disease duration; The rate of DPOAE extraction is found to be lower in infant patients with auditory neuropathy (AN) compared to non-infant AN patients. Additionally, it is observed that the decrease in DPOAE extraction rate is more pronounced in infant AN patients as the disease progressed, as compared to non-infant AN patients. DPOAE and cochlear microphonic potentials should be fully combined for accurate diagnosis, and regular follow-up should be conducted to understand the natural course of the disease and give personalized guidance and assistance.


Hearing Loss, Central , Otoacoustic Emissions, Spontaneous , Humans , Child, Preschool , Infant , Hearing Loss, Central/physiopathology , Hearing Loss, Central/diagnosis , Child , Female , Male , Adolescent , Adult , Young Adult
7.
Zhonghua Jie He He Hu Xi Za Zhi ; 46(5): 466-473, 2023 May 12.
Article Zh | MEDLINE | ID: mdl-37147808

Objective: To explore the characteristics of sleep spindle density in nonrapid eye movement (NREM) stage 2 (N2) sleep and its effect on memory function in patients with obstructive sleep apnea hypopnea syndrome (OSAHS). Methods: Patients who underwent polysomnography (PSG) examination due to snoring in the Second Affiliated Hospital of Soochow University from January to December 2021 were prospectively collected. A total of 119 male patients, aged 23-60 (37.4±7.3) years, were enrolled finally. According to the apnea hyponea index (AHI), the subjects were divided into a control group (AHI<15 times/h) of 59 cases and an OSAHS group (AHI≥15 times/h) of 60 cases. The basic information, general clinical data and PSG parameters were collected. Memory function scores were evaluated by using logical memory test (LMT), digit ordering test (DOT) and pattern recognition memory (PRM), spatial recognition memory (SRM) and spatial working memory (SWM) in CANTAB test. The number of N2 sleep spindles in leads left central area (C3) and right central area (C4) was counted by hand and the sleep spindle density (SSD) was calculated. The differences in the above indexes and N2 SSD were compared between the two groups. Shapiro-Wilk method, chi-squared test, Spearman correlation analysis and stepwise multivariate logistic regression analysis were used to investigate the influencing factors of memory scores in patients with OSAHS. Results: Compared with the control group, the proportion of the slow-wave sleep, the minimum blood oxygen saturation, the SSD in C3 of NREM2 stage and the SSD in C4 of NREM2 stage were lower in the OSAHS group. The body mass index (BMI), proportion of N2 sleep, oxygen reduction index, percentage of time with oxyhemoglobin saturation below 90% (TS90), maximum duration of apnea and respiratory effort-related arousal(RERA) were higher in the OSAHS group (all P<0.05). Compared with the control group, the immediate LMT score was lower, while the time for immediately completing PRM test, the total time for immediately completing SRM test and the time for delayed completing PRM test were longer in the OSAHS group, suggesting that the immediate logical memory, immediate visual memory, spatial recognition memory and delayed visual memory were worse in the OSAHS group. Stepwise multivariate logistic regression analysis revealed that the number of years of education (OR=0.744, 95%CI 0.565-0.979, P=0.035), maximum duration of apnea (OR=0.946, 95%CI 0.898-0.997, P=0.038) and N2-C3 SSD (OR=0.328, 95%CI 0.207-0.618, P=0.012) and N2-C4 SSD (OR=0.339, 95%CI 0.218-0.527, P=0.017) were independent factors affecting the immediate visual memory. The AHI (OR=1.449, 95%CI 1.057-1.985, P=0.021), N2-C3 SSD (OR=0.377, 95%CI 0.246-0.549, P=0.009), and N2-C4 SSD (OR=0.400, 95%CI 0.267-0.600, P=0.010) were independent factors affecting delayed visual memory. Conclusions: The decrease in SSD is associated with impaired memory function in patients with moderate-severe OSAHS, which is manifested as impairment of immediate visual memory and delayed visual memory. This suggests that changes of sleep spindle wave in N2 may be an electroencephalographic biomarker for assessing cognitive impairment in OSAHS patients.


Sleep Apnea, Obstructive , Sleep , Humans , Male , Sleep Apnea, Obstructive/complications , Polysomnography , Syndrome , Sleep Stages
8.
Appetite ; 182: 106421, 2023 Mar 01.
Article En | MEDLINE | ID: mdl-36528255

While obesity remains a pressing issue, the wider population continues to be exposed to more digital food content than ever before. Much research has demonstrated the priming effect of visual food content, i.e., exposure to food cues increasing appetite and food intake. In contrast, some recent research points out that repeated imagined consumption can facilitate satiate and decrease food intake. Such findings have been suggested as potential remedies to excessive food cue exposure. However, the practically limitless variety of digital food content available today may undermine satiation attempts. The present work aims to replicate and extend prior findings by introducing a within-subjects baseline comparison, disentangling general and (sensory-) specific eating desires, as well as considering the moderating influence of visual and flavour stimulus variety. Three online studies (n = 1149 total) manipulated food colour and flavour variety and reproducibly revealed a non-linear dose-response pattern of imagined eating: 3 repetitions primed, while 30 repetitions satiated. Priming appeared to be specific to the taste of the exposed stimulus, and satiation, contrary to prior literature, appeared to be more general. Neither colour nor flavour variety reliably moderated any of the responses. Therefore, the results suggest that a more pronounced variety may be required to alter imagery-induced satiation.


Eating , Satiation , Humans , Eating/physiology , Satiation/physiology , Appetite/physiology , Food , Food Preferences/physiology , Taste/physiology , Flavoring Agents , Satiety Response , Energy Intake
11.
Zhonghua Xin Xue Guan Bing Za Zhi ; 50(6): 570-576, 2022 Jun 24.
Article Zh | MEDLINE | ID: mdl-35705466

Objective: To observe the effect of lipid regulating therapy on carotid atherosclerotic plaque in diabetic patients. Methods: The REACH study, conducted between March 2009 and February 2012, enrolled asymptomatic patients with magnetic resonance imaging (MRI) confirmed carotid atherosclerotic plaque, who had never taken lipid-lowering drugs. Patients were treated with a moderate dose of rosuvastatin for 24 months. Blood lipid levels were measured and carotid MRI was performed at baseline, 3 and 24 months after treatment. The volume of carotid wall and lipid-rich necrotic core (LRNC) were measured by image analysis software. This study retrospectively analyzed patients in the REACH study. Patients were divided into diabetes group and non-diabetic group. The changes of blood lipid level and MRI parameters of carotid atherosclerotic plaque were compared between the two groups and their correlation was analyzed. Results: A total of 38 patients with carotid atherosclerotic plaque were included in this study, including 13 patients (34.2%) in the diabetic group and 25 patients (65.8%) in the non-diabetic group. Baseline parameters were comparable between the two groups, except higher HbA1c level in diabetes group (P<0.05). Compared with baseline, the total cholesterol (TC), low density lipoprotein cholesterol (LDL-C) and triglyceride (TG) levels were significantly decreased at 3 and 24 months in both two groups (P<0.05). The change of high-density lipoprotein cholesterol (HDL-C) in diabetes group was not obvious, while it was significantly increased in non-diabetic group at 24 months ((1.38±0.33) mmol/l vs. (1.26±0.26) mmol/l, P<0.05). MRI results showed that the volume and percentage of LRNC remained unchanged at 3 months, slightly decreased at 24 months (64.86 (45.37, 134.56) mm3 vs. 75.76 (48.20, 115.64) mm3, P>0.05) and (15.84% (11.47%, 24.85%) vs. 16.95% (11.64%, 22.91%), P>0.05) in diabetic group. In non-diabetic group, the volume and percentage of LRNC were significantly decreased at 3 months (63.01 (44.25, 188.64) mm3 vs. 72.49 (51.91, 199.59) mm3, P<0.05) and (13.76% (8.81%, 27.64%) vs. 16.04% (11.18%, 27.05%), P<0.05) respectively. Both parameters further decreased to (55.63 (27.18, 179.40) mm3) and (12.71% (8.39%, 24.41%)) at 24 months (both P<0.05). Wall volume, lumen volume and percent wall volume (PWV) were not affected post therapy in both two groups(P>0.05). There were no correlations between the changes of plaque parameters including volume and percentage of LRNC, wall volume, lumen volume, PWV and the changes of blood lipid parameters (TC, LDL-C, HDL-C and TG) in 3 and 24 months (P>0.05). Conclusion: Lipid-lowering therapy possesses different effects on carotid atherosclerotic plaque in diabetic and non-diabetic patients, and the LRNC improvement is more significant in non-diabetic patients as compared to diabetic patients.


Carotid Artery Diseases , Plaque, Atherosclerotic , Rosuvastatin Calcium , Carotid Arteries/diagnostic imaging , Carotid Arteries/pathology , Carotid Artery Diseases/diagnostic imaging , Carotid Artery Diseases/drug therapy , Cholesterol, HDL/therapeutic use , Cholesterol, LDL , Diabetes Mellitus , Humans , Magnetic Resonance Imaging/methods , Necrosis/pathology , Plaque, Atherosclerotic/diagnostic imaging , Plaque, Atherosclerotic/drug therapy , Retrospective Studies , Rosuvastatin Calcium/therapeutic use
12.
Zhonghua Yi Xue Za Zhi ; 102(8): 555-562, 2022 Mar 01.
Article Zh | MEDLINE | ID: mdl-35196777

Objective: To evaluate the clinical characteristics of patients with obstructive sleep apnea hypopnea syndrome (OSAHS) combined with alveolar hypoventilation. Methods: This retrospective study included patients who were diagnosed as OSAHS by polysomnography (PSG) and underwent daytime awake transcutaneous carbon dioxide (PtcCO2) monitoring from November 2019 to February 2021 at the Sleep Center of the Second Affiliated Hospital of Soochow University. A total of 177 patients were enrolled in the analysis, including 167 males and 10 females, aged (40±8) years old. Patients with daytime awake PtcCO2>45 mmHg (1 mmHg=0.133 kPa) were diagnosed as daytime alveolar hypoventilation, with which participants were divided into the daytime alveolar hypoventilation group and non-daytime alveolar hypoventilation group. Body mass index (BMI) cut-off value predicting daytime alveolar hypoventilation was calculated and the patients were divided into the high BMI group and low BMI group. The continuous nocturnal PtcCO2 data was available for a subset of 128 patients, and the patients were divided into two groups according the daytime alveolar hypoventilation or not. Across-group differences were compared, respectively. Results: Compared with the non-daytime alveolar hypoventilation group (n=125), the BMI [27.57 (26.55, 30.33) vs 26.60 (25.06, 28.09) kg/m2], Epworth sleepiness score(ESS) score [9.50 (6.25, 12.00) vs 7.00 (4.00, 10.75)], higher oxygen desaturation index (ODI) [38.00 (15.23, 64.93) vs 26.80 (11.30, 44.30) events/h] and percentage of total time with oxygen saturation level<90% (TS90%) [11.24% (1.88%, 32.44%) vs 4.35% (0.72%, 9.87%)] of the daytime alveolar hypoventilation group(n=52) were significantly higher (P<0.05), and lowest arterial oxygen saturation (LSaO2) [74.50% (60.25%, 82.00%) vs 79.00% (73.00%, 84.50%)], mean arterial oxygen saturation (MSaO2) [94.00% (91.00%, 95.00%) vs 95.00% (94.00%, 96.00%)] were significantly lower (P<0.05). The BMI cut-off value for predicting daytime alveolar hypoventilation was 27.04 kg/m2. Of the 177 enrolled patients, 90 were in the high BMI group and 87 were in low group. Compared with the low BMI group, the proportion of daytime sleepiness, the ESS score, the prevalence of hypertension, AHI and daytime awake PtcCO2 in the high BMI group were significantly higher (P<0.05). Among the subset of 128 patients with nocturnal PtcCO2 data available, the BMI, daytime PtcCO2 level, the nocturnal CO2 level and the prevalence of sleep related alveolar hypoventilation in the daytime alveolar hypoventilation group (n=40) were significantly higher than those in the non-daytime alveolar hypoventilation group (n=88) (P<0.05). Conclusions: The OSAHS patients with alveolar hypoventilation have higher BMI and more severe nocturnal hypoxia. OSAHS patients with BMI>27.04 kg/m2 are more likely to develop sleep related alveolar hypoventilation disorder.


Hypertension , Sleep Apnea, Obstructive , Adult , Female , Humans , Hypoventilation , Male , Middle Aged , Polysomnography , Retrospective Studies
13.
Zhonghua Yi Xue Za Zhi ; 102(1): 49-55, 2022 Jan 04.
Article Zh | MEDLINE | ID: mdl-34991237

Objective: To explore the learning curve and short-term clinical outcomes of Mako robotic-assisted direct anterior approach total hip arthroplasty (THA). Methods: The preoperative basic data, surgical information and postoperative rehabilitation of 50 patients who underwent Mako robotic-assisted THA for hip diseases in Department of Orthopedic Surgery of the 6th People's Hospital Affiliated to Shanghai Jiao Tong University from December 2018 to December 2020 were analyzed retrospectively, included operation time, intraoperative blood loss, postoperative complications, postoperative imaging parameters (abduction angle, anteversion angle, lower limb length difference, eccentricity difference) and postoperative hip joint Harris score (hip Harris score, HHS). There were 16 males and 34 females, with a mean age of 50-79(67±10) years. The postoperative clinical results of Mako robotic-assisted total hip arthroplasty was analyzed. A cumulative sum analysis (CUSUM) was performed on the operation time (OT). The CUSUM learning curve was modeled by curve fitting and R² was used to testify the goodness. The different phase of the learning curve was compared with several observation indicators. Results: All patients were followed up for more than 6 months. Two patients had poor wound healing and 5 patients had symptoms of lateral femoral cutaneous nerve injury, which disappeared within 1-2 months. No serious complications such as dislocation, aseptic loosening, periprosthetic infection or revision occurred in all the patients. The average operation time was (81±16) min, and the intraoperative blood loss was (456±84) ml. The average Harris hip score at the last follow-up was 88.6±2.5. The radiological evaluation showed that the positions of the acetabular cups were all in the Lewinnnek safety zone; the limb length discrepancy was (0.15±0.50) cm, the offset was (-0.11±0.72) cm. The OT decreased with the accumulation of the cases. The CUSUM learning curve was best modeled as cubic curve,the fitting curve reached the top at the 19th case. As a cut-off point, the 19th point divided the learing curve into two phases. There were statistical differences in OT, pelvic array installation time, acetabular registration time, acetabular reaming time (all P<0.05), but there was no significant differences in Harris hip score, acetabular prosthesis anteversion angle and abduction angle between the two groups (all P>0.05). Conclusions: The learning curve of Mako robot-assisted DAA-THA is about 19 cases. Mako robot-assisted DAA-THA can ensure the accuracy of prosthetic placement and the safety of the operation during the learning curve, and the short-term clinical results after surgery is excellent.


Arthroplasty, Replacement, Hip , Hip Prosthesis , Robotic Surgical Procedures , Aged , China , Female , Humans , Learning Curve , Male , Middle Aged , Retrospective Studies , Treatment Outcome
15.
Zhonghua Jie He He Hu Xi Za Zhi ; 44(10): 873-879, 2021 Oct 12.
Article Zh | MEDLINE | ID: mdl-34565113

Objective: To investigate the effects of daytime hypercapnia on logical memory and working memory in patients with obstructive sleep apnea hypopnea syndrome (OSAHS). Methods: This prospective study recruited patients complaining of snoring and diagnosed with OSAHS at the Sleep Center of the Second Affiliated Hospital of Soochow University from January to November 2020. Patients were assessed clinically and scored for their memory function. All patients underwent daytime transcutaneous carbon dioxide (PtcCO2) test, and overnight polysomnography (PSG). Logical memory was scored using the Logical Memory Test (LMT), while working memory was evaluated by Digit Span Test (DST) and Cambridge Neuropsychological Test Automated Battery (CANTAB) which included Pattern Recognition Memory (PRM), Spatial Span (SSP), and Spatial Working Memory (SWM). Patients were divided into the normocapnic group and the hypercapnic group using the daytime PtcCO2 test. The clinical and PSG parameters and the memory test scores between the two groups were compared. Binary logistic stepwise regression was conducted to identify risk factors of memory impairment in OSAHS patients. Results: Among the 123 enrolled OSAHS patients, 79 were normocapnic and 44 were hypercapnic. There was no significant difference in the general clinical parameters between the two groups. The snoring history in years in the hypercapnic group was longer than that in the normocapnic group (P<0.05). Compared with the normocapnic group, the apnea-hyponea index (AHI), oxygen desaturation index (ODI) and percentage of total sleep time with oxygen saturation level<90% (TS90) of the hypercapnic group were higher (all P<0.05), while other PSG parameters exhibited no statistically significant differences. There was no statistically significant difference in the immediate logical memory and PRM immediate accuracy rate between the two groups, while the delayed logical memory, verbal and spatial working memory, and executive function were worse in the hypercapnic group, as shown by lower total LMT scores, lower DST, lower SSP scores (all P<0.05), and higher between errors and strategy scores (P<0.01) of SWM in the hypercapnic group. Binary logistic stepwise regression showed that PtcCO2 ≥45 mmHg (1 mmHg=0.133 kPa, OR=3.055, 95%CI 1.359-6.868, P=0.007) and higher body mass index (BMI) (OR=1.132, 95%CI 1.005-1.275, P=0.041) were risk factors for poor performance in Digit Span Backwards Test. Therefore, PtcCO2 ≥45 mmHg was an independent risk factors for poor performance in delayed LMT, SSP, and between errors and strategy scores in SWM (OR=3.109, 3.941, 3.238 and 2.785, respectively, all P<0.05). Conclusion: Hypercapnia had negative impacts on logical memory and working memory of OSAHS patients, especially on the delayed logical memory, verbal working memory and spatial working memory impairment.


Hypercapnia , Sleep Apnea, Obstructive , Humans , Memory, Short-Term , Polysomnography , Prospective Studies
16.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi ; 55(11): 1050-1056, 2020 Nov 07.
Article Zh | MEDLINE | ID: mdl-33210885

Objective: To explore the clinical features and pathogenic mechanisms of a special syndrome with congenital sensorineural hearing loss, albinism, heterochromia iridis, nystagmus and myelin dysplasia. Methods: Detailed medical history, systematic audiology tests, ophthalmic and neurological examinations were carried out to analyze the clinical features of the child, and further molecular genetic tests including chromosome karyotype analysis, and deafness gene screening were conducted. Results: A new de novo heterozygous mutation (c.336G>T/p.Met112Ile) was detected in the child, while both his parents were demonstrated to be wild-type and symptom free. The analysis of clinical features indicated the diagnosis of PCW syndrome. Conclusion: This study identified a new mutation of SOX10 gene, which enriched the mutation spectrum of this gene. And the analysis of clinical characteristics of this patient also expanded the phenotype of this gene. This study provided a reference for clinical diagnosis and genetic diagnosis of PCW syndrome.


Waardenburg Syndrome , Child , Heterozygote , Humans , Mutation , Pedigree , Phenotype , SOXE Transcription Factors/genetics , Waardenburg Syndrome/genetics
17.
Eur Rev Med Pharmacol Sci ; 24(21): 11105-11113, 2020 11.
Article En | MEDLINE | ID: mdl-33215427

OBJECTIVE: Previous studies have shown that the function of miR-141 has tissue specificity. However, the role of miR-141-3p has not been reported in nasopharyngeal carcinoma (NPC). Therefore, this study explored the function of miR-141-3p in NPC. PATIENTS AND METHODS: MiR-141-3p expression in NPC tissues was examined via quantitative Real Time-Polymerase Chain Reaction (qRT-PCR) assay. Cell Counting Kit-8 (CCK-8) and transwell assays were used to explore the function of miR-141-3p. The relationship between miR-141-3p and DLC1 was verified by Dual-Luciferase assay. Protein expression was observed by immunocytochemical assay and Western blot analysis. RESULTS: Upregulation of miR-141-3p associated with poor prognosis was detected in NPC patients. Moreover, overexpression of miR-141-3p promoted cell proliferation, migration, and invasion in NPC cells. It was also found that miR-141-3p promoted EMT and activated the mTOR signaling pathway in NPC. Furthermore, DLC1 was indicated as a direct target of miR-141-3p and miR-141-3p negatively correlated with DLC1 expression in NPC. In particular, upregulation of DLC1 could impair the promoted effect of miR-141-3p in NPC. CONCLUSIONS: MiR-141-3p promotes the progression of NPC by targeting DLC1 and activating the mTOR pathway.


GTPase-Activating Proteins/metabolism , MicroRNAs/metabolism , Nasopharyngeal Carcinoma/metabolism , Nasopharyngeal Neoplasms/metabolism , Tumor Suppressor Proteins/metabolism , Cells, Cultured , Female , GTPase-Activating Proteins/genetics , Humans , Male , MicroRNAs/genetics , Middle Aged , Nasopharyngeal Carcinoma/pathology , Nasopharyngeal Neoplasms/pathology , Tumor Suppressor Proteins/genetics
18.
Eur Rev Med Pharmacol Sci ; 24(20): 10542-10549, 2020 10.
Article En | MEDLINE | ID: mdl-33155210

OBJECTIVE: The aim of this study was to investigate the effects of oxaliplatin on intestinal floras, inflammation level, apoptosis-related gene expressions and oxidative stress in rats with colorectal cancer. MATERIALS AND METHODS: A total of 30 adult Sprague-Dawley (SD) rats were selected as research objects and were divided into control group, model group and oxaliplatin group. Rats in control group were raised normally, without any treatment. Rats in model group were subcutaneously injected with dimethylhydrazine (25 mg/kg) to establish the model of colorectal cancer. Meanwhile, rats in oxaliplatin group were injected with oxaliplatin (15 mg/kg) once every 2 weeks for 12 consecutive weeks. Peripheral blood, intestinal tumor tissues and feces were collected from rats. In addition, inflammatory indexes [tumor necrosis factor-alpha (TNF-α), C-reactive protein (CRP), interleukin-4 (IL-4) and IL-1ß], oxidative stress indexes [catalase (CAT), superoxide dismutase (SOD), reduced glutathione (GSH) and total antioxidant capacity (T-AOC)], expressions of apoptosis-related genes [apoptotic protease activating factor-1 (Apaf1), Caspase-9, Survivin and B-cell lymphoma-2 (Bcl-2)] and intestinal floras were detected. RESULTS: The abundance of microorganisms such as Sphaerobacterales, Adlercreutzia and Coriobacterium glomerans increased significantly in the intestines in control group (p<0.05). However, the abundance of Bifidobacterium, Rikenellaceae and Paraprevotella in the intestines was obviously higher in model group (p<0.05). Oxaliplatin group exhibited remarkably higher abundance of such microorganisms as Cyanobacteria, Alistipes and Metascardovia in rat intestines (p<0.05). The content of Alistipes was the highest in oxaliplatin group, followed by control group and model group, and the difference was statistically significant (p<0.05). The levels of serum TNF-α, CRP and IL-1ß were remarkably higher in model group than those in control group (p<0.05). Oxaliplatin group exhibited notably lower levels of serum TNF-α, CRP and IL-1ß (p<0.05) and higher IL-4 level than model group (p<0.05). The content of serum CAT, SOD, GSH and T-AOC was markedly elevated in model group compared with control group (p<0.05). However, it was significantly reduced in oxaliplatin group in comparison with model group (p<0.05). Compared with control group, model group had distinctly lower expressions of Apaf1, Caspase-9 and Survivin but an evidently higher expression level of Bcl-2 in tumor tissues (p<0.05). Moreover, the expressions of Apaf1, Caspase-9 and Survivin were clearly higher, while that of Bcl-2 was prominently lower in tumor tissues in oxaliplatin group than model group (p<0.05). CONCLUSIONS: Oxaliplatin exerts significant effects on the inflammation, oxidative stress, apoptosis-related genes and intestinal floras in rats with CRC.


Antineoplastic Agents/pharmacology , Colorectal Neoplasms/drug therapy , Gastrointestinal Microbiome/drug effects , Inflammation/drug therapy , Oxaliplatin/pharmacology , Animals , Antineoplastic Agents/administration & dosage , Colorectal Neoplasms/metabolism , Disease Models, Animal , Inflammation/metabolism , Male , Oxaliplatin/administration & dosage , Oxidative Stress/drug effects , Rats , Rats, Sprague-Dawley
19.
Nanoscale ; 12(41): 21368-21375, 2020 Oct 29.
Article En | MEDLINE | ID: mdl-33078183

The trapped electron states on a pliable lattice have different localization and physical chemistry characteristics. Here, terahertz time-domain measurements suggest that the formation of vanadyl oxygen defect, in the presence of the surface potential traps and mobile charge carriers, leads to a transient charge distribution that forms terahertz radiating dipoles in V2O5. The emergence of radiating dipoles is evidenced by terahertz responses with a two-valley feature of the thermally reduced α-V2O5 (001) thin films in the temperature range of 300-700 K. The two photoconductance valleys on a several millielectron volts interval are related to two emergent split-off traps, which originate from the VO6 octahedra distortion upon the vanadyl oxygen desorption on the surface. The pliable surface lattices plays a decisive role. So long as the α-V2O5 (001) thin films are covered by a 30 nm-thick Al2O3 capping layer, the distinct two-valley feature disappears completely in the full temperature range. The terahertz radiating dipoles with a fine energy structure is potentially a new measure for charge dynamics on the α-V2O5 (001) surface.

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Zhonghua Yi Xue Za Zhi ; 100(34): 2675-2681, 2020 Sep 15.
Article Zh | MEDLINE | ID: mdl-32921016

Objective: To explore the relationship between insomnia phenotype and mild cognitive impairment (MCI) in young and middle-aged patients with obstructive sleep apnea hypopnea syndrome (OSAHS). Methods: Those patients admitted due to snoring and examined by polysomnography (PSG) in the Sleep Center of the Second Affiliated Hospital of Soochow University from January 2014 to January 2019 were screened. They were between 30 and 60 years old, and their cognitive function was assessed by the Montreal cognitive assessment (MoCA) and their sleep quality was assessed by the Pittsburgh sleep quality index (PSQI). According to the sleep apnea hypopnea index (AHI), the patients were divided into three groups: snoring group (AHI<5 times/h), mild/moderate OSAHS group (5≤AHI≤30 times/h) and severe OSAHS group (AHI>30 times/h). According to the results of PSQI score, the patients were further divided into non-insomnia group (PSQI total score<8) and insomnia group (PSQI total score≥8). The differences of parameters in different groups were compared, and the relationship between OSAHS insomnia phenotype and MCI was analyzed by binary logistic regression model. Results: A total of 2 098 patients with the average age of (42.7±8.4) years old and the average BMI of (26.3±3.6) kg/m(2) were enrolled in the study, including 398 cases in snoring group (including 254 cases in non-insomnia group and 144 cases in insomnia group), 754 cases in mild/moderate OSAHS group (including 446 cases in non-insomnia group and 308 cases in insomnia group) and 946 cases in severe OSAHS group (including 722 cases in non-insomnia group and 224 cases in insomnia group). In the mild/moderate OSAHS group, compared with the non-insomnia group, the proportion of women in the insomnia group was higher with lighter degree of obesity, lighter severity of illness and lighter degree of hypoxia (all P<0.05). In the severe OSAHS group, the general characteristics of insomnia patients were similar to those of the mild/moderate OSAHS group, and the MoCA score of the insomnia group was lower than that of the non-insomnia group [(26.3±2.7) vs (25.5±2.9) points] (P=0.001). In the evaluation of each item of PSQI, the total score and daytime dysfunction score of insomnia patients in mild/moderate OSAHS group and severe OSAHS group was higher than those in snoring group [(11.2±1.9) points, (12.8±2.2) points vs (10.9±2.1) points and (1.5±0.4) points, (1.9±0.8) points vs (0.5±0.5) points], but the score in sleep latency was lower than that in snoring group [(1.5±0.5) points, (1.5±0.5) points vs (2.1±0.8) points] (all P<0.05). After correcting the effects of OSAHS disease severity, hypoxia, awake times, education, age, gender, hypnagogue, BMI, smoking and drinking history, the risk of MCI in insomnia group of severe OSAHS patients was significantly higher than that of non-insomnia group by 49% (OR=1.49, 95%CI: 1.05-2.11). Conclusion: Insomnia phenotype is a common clinical phenotype of OSAHS, and it is a risk factor for MCI in young and middle-aged patients with severe OSAHS.


Cognitive Dysfunction , Sleep Apnea, Obstructive , Sleep Initiation and Maintenance Disorders , Adult , Female , Humans , Middle Aged , Phenotype , Polysomnography
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