Analysis of clinical features and pathogenic variants in a Chinese pedigree affected with congenital glycosylation disease / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genetic basis for a Chinese pedigree diagnosed with congenital glycosylation disease (CGD).@*METHODS@#Clinical manifestations of two brothers were analyzed. Whole exome sequencing was carried out for the sib pair. Suspected variants were verified by Sanger sequencing.@*RESULTS@#Both the proband and her younger brother were found to carry compound heterozygous variants of the PMM2 gene, which included a known pathogenic mutation of c.395T>C (p.I132T) and a previously unreported c.448-1(delAG) in the 5' end of exon 6 of the gene.@*CONCLUSION@#The compound heterozygous variants of the PMM2 gene probably underlay the CGD in the sib pair.

Calycosin activates the protein kinase c/NF-E2-related factor 2 pathway to attenuate the oxidative stress and apopotosis induced by streptozotocin in RIN-m5F cell / 中国医师进修杂志

Objective To study the effects and mechanism of calycosin on oxidative stress andβ-cell apoptosis induced by streptozotocin (STZ). Methods RIN-m5F cells were divided into 5 groups:control group, STZ group, STZⅠgroup, STZⅡgroup and STZⅢgroup. The control group did not receive any treatment, while streptozotocin was added to the final concentration of 10 mmol/L in STZ group, STZⅠgroup, STZⅡgroup and STZⅢgroup. After the incubation with STZ for 6 h, calycosin was added to a final concentration of 10, 50 and 100 μmol/L in STZⅠgroup, STZⅡgroup and STZⅢgroup respectively. The cell viability and apoptosis was detected by CCK-8, LDH, caspase 3 and Tunel assay. The intracellular oxidative stress was measured using mitochondrial membrane potential, DCFH-DA, SOD activity and malondialdehyde levels assay. RIN-m5F cells were divided into control group, calycosinⅠgroup, calycosinⅡgroup and calycosinⅢgroup, which were treated with different concentrations (0,10, 50 and 100 μmol/L, respectively) of calycosin. The expression of NF-E2-related factor 2(Nrf2) in RIN- m5F cells was detected by Western blot. The translocation of Nrf2 was detected by immunofluorescence. In RIN-m5F cells were divided intoⅢgroup andⅣgroup,Ⅳgroup was pre-treated with protein kinase C(PKC) inhibitor. The effects of calycosin on Nrf2 translocation, oxidative stress and apoptosis were also observed. Results STZ could induce the accumulation of reactive oxygen species and apoptosis in RIN-m5F cells. Calycosin did not affect normal RIN-m5F cells, whereas it reduced the oxidative stress and apoptosis induced by STZ in a dose-dependent manner. The expression of Nrf2 in RIN-m5F cells was not affected by calycosin, whereas it promoted the translocation of Nrf2 into nucleus. The ability of calycosin promoting Nrf2 translocation was decreased after PKC inhibitor treatment, and PKC inhibitor could also significantly attenuate the anti-oxidant and anti-apoptotic ability of calycosin. Conclusions This study shows that calycosin may play an anti-oxidative and anti-apoptotic role by activating PKC to promote Nrf2 translocation, which is expected to be used as a new clinical drug for the prevention and treatment of diabetes mellitus.

Calycosin activates the protein kinase c/NF-E2-related factor 2 pathway to attenuate the oxidative stress and apopotosis induced by streptozotocin in RIN-m5F cell / 中国医师进修杂志

Objective To study the effects and mechanism of calycosin on oxidative stress andβ-cell apoptosis induced by streptozotocin (STZ). Methods RIN-m5F cells were divided into 5 groups:control group, STZ group, STZⅠgroup, STZⅡgroup and STZⅢgroup. The control group did not receive any treatment, while streptozotocin was added to the final concentration of 10 mmol/L in STZ group, STZⅠgroup, STZⅡgroup and STZⅢgroup. After the incubation with STZ for 6 h, calycosin was added to a final concentration of 10, 50 and 100 μmol/L in STZⅠgroup, STZⅡgroup and STZⅢgroup respectively. The cell viability and apoptosis was detected by CCK-8, LDH, caspase 3 and Tunel assay. The intracellular oxidative stress was measured using mitochondrial membrane potential, DCFH-DA, SOD activity and malondialdehyde levels assay. RIN-m5F cells were divided into control group, calycosinⅠgroup, calycosinⅡgroup and calycosinⅢgroup, which were treated with different concentrations (0,10, 50 and 100 μmol/L, respectively) of calycosin. The expression of NF-E2-related factor 2(Nrf2) in RIN- m5F cells was detected by Western blot. The translocation of Nrf2 was detected by immunofluorescence. In RIN-m5F cells were divided intoⅢgroup andⅣgroup,Ⅳgroup was pre-treated with protein kinase C(PKC) inhibitor. The effects of calycosin on Nrf2 translocation, oxidative stress and apoptosis were also observed. Results STZ could induce the accumulation of reactive oxygen species and apoptosis in RIN-m5F cells. Calycosin did not affect normal RIN-m5F cells, whereas it reduced the oxidative stress and apoptosis induced by STZ in a dose-dependent manner. The expression of Nrf2 in RIN-m5F cells was not affected by calycosin, whereas it promoted the translocation of Nrf2 into nucleus. The ability of calycosin promoting Nrf2 translocation was decreased after PKC inhibitor treatment, and PKC inhibitor could also significantly attenuate the anti-oxidant and anti-apoptotic ability of calycosin. Conclusions This study shows that calycosin may play an anti-oxidative and anti-apoptotic role by activating PKC to promote Nrf2 translocation, which is expected to be used as a new clinical drug for the prevention and treatment of diabetes mellitus.

Evaluation of CMS50F as a screening test for patients with obstructive sleep apnea hypopnea syndrome / 天津医药

Objective To evaluate the diagnostic accuracy of CMS50F for screening in patients with obstructive sleep apnea-hypopnea syndrome (OSAHS). Methods Sixty-four volunteers with suspected OSAHS underwent simultaneous noc?turnal polysomnography (PSG), micromovement sensitive mattress sleep monitoring system(MSMSMS)and CMS50F. The ap?nea-hypopnea index (AHI) detected by PSG and MSMSMS was used as the diagnostic standard for OSAHS. The reliability of CMS50F for monitoring sleep was assessed. Results There was no statistic difference in CMS50F-ODI3 and PSG-AHI be?tween normal, mild and moderate OSAHS groups(P>0.05). The CMS50F-ODI3 was smaller than the PSG-AHI in severe OSAHS patients(P 0.05). The value of CMS50F-ODI3 was smaller than MSMSMS-AHI in severe OSAHS patients (P < 0.05). There was also a significant correlation between CMS50F- ODI3 and MSMSMS-AHI (r=0.867,P <0.05). MSMSMS-AHI≥5 events per hour was used as the threshold value to diagnose OSAHS, the sensitivity and specificity of CMS50F were 94.5%and 88.9%. Conclusion CMS50F can be used as a portable and reliable device for screening of pa?tients suspected OSAHS.

An Analysis of Auditory Brainstem Responses at High Stimulate Rate in Patients with OSAHS / 听力学及言语疾病杂志

Objective To investigate the characteristics of auditory nerves and brainstem pathways,patho-physiological and nerve damages and the correlation between oxygen indexes,and the values of high stimulation ABR in patients with OSAHS.Methods Auditory brain stem responses (ABR)at rates of 11.1 times/s,31.1 times/s,51.1 times/s were performed in both the moderate-to-severe OSAHS group(5 cases of moderate and 34 cases of severe,in total of 39 cases ,78 ears)and the control group (34 cases,68 ears).According to the character-istics of ABR,the correlation with parameters of blood oxygen was studied.Results At the rate of 11.1 times/s, wave V latencies (5.79±0.22 ms)in OSAHS patients were longer than that in the control group.At the rate of 31.1 times/s,wave V latencies (5.98±0.19 ms)and waveⅠ(1.85±0.18 ms)in OSAHS patients were prolonged more than those in the control group.At the rate of 51.1 times/s,wave V latencies (6.09±0.25 ms)and waveⅠ(1.94±0.26 ms)in OSAHS patients were longer than those in the control group.Increasing stimulation rates from 11.1 times/s to 31.1 times/s showedΔⅠwas longer in OSAHS group(0.12±0.17 ms)than in the control group (0.07±0.11 ms).Increasing stimulation rates from 11.1 times/s to 51.1 times/s showedΔⅠwas longer in OS-AHS group(0.21±0.25 ms)than in the control group(0.15±0.10 ms).All above had correlations with hypoxia. Conclusion High stimulation rates in ABR by amplifying the waveⅠ latency confirm cochlear and auditory nerve damages near the cochlear segment in patients with moderate to severe OSAHS.Therefore the study of nerve injury in OSAHS patients should take blood oxygen saturation and hypoxia percentage rather than AHI.

Evaluation of a portable sleep device in patients with obstructive sleep apnea hypopnea syndrome / 中国耳鼻咽喉头颈外科

[ABSTRACT]OBJECTIVETo evaluate the accuracy of the watch peripheral arterial tone (Watch-PAT) in the diagnosis of obstructive sleep apnea hypopnea syndrome (OSAHS).METHODSA total of 51 outpatients who had chief complaint of sleep snoring were carried out Watch-PAT test and polysomnography (PSG) simultaneously, and the results were statistically compared.RESULTSFifty one patients, consisted of 44 males and 7 females, had the mean age of (45.7±12.0) years (±s) and the mean body mass index of (28.8±3.6) kg/m2.The mean PSG apnea hypopnea index (AHI) was (45.69±12.02) events per hour, and mean Watch-PAT AHI was (35.49±24.49) events per hour. Significant correlation has been detected between Watch-PAT AHI and PSG AHI (r=0.878,P<0.001). The sensitivity and specificity of Watch-PAT were 97.73% and 85.71%, when PSG-AHI≥5/h events per hour was setting as the threshold value to diagnose OSAHS. The diagnostic efficiency of Watch-PAT has been tested by ROC curve, and the area under the curve approached to 0.997.CONCLUSIONThe Watch-PAT was proved as a portable and reliable device of screening patients who were suspected OSAHS.

Feature of semicircular canal function in obstructive sleep apnea-hypopnea syndrome / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>The aim of this study was to evaluate the effects of obstructive sleep apnea-hypopnea syndrome (OSAHS) on semicircular canal function.</p><p><b>METHODS</b>By means of a series prospective study at Department of Otolaryngology Head and Neck Surgery of our hospital, the study was performed on 77 patients suffering from OSAHS in a period from 2012 to 2014, who underwent polysomnography (PSG) and caloric test. The maximal slow-phase velocity (SPV) and unilateral weakness (UW) were used to measure the vestibular function. Severity of OSAHS was evaluated by the lowest oxygen saturation (LSaO₂) and apnea hypopnea index (AHI). The SPV after cool was signed, warm test was performed for each ear, and the sum of left ear SPV were calculated, and then, the SPV of right ear was counted as the same way. Finally, the relationships between LSaO₂, AHI, age, BMI, and SPV of caloric test were analyzed.</p><p><b>RESULTS</b>Caloric vestibular tests in the 77 OSAHS patients demonstrated abnormal findings in 52 patients (67.5%) and normal vestibular functions in the remaining 25 patients (32.5%). Of the 52 patients with an abnormal test result, 16 (20.8%) patients had unilateral vestibular hyporeflexia and 36 (46.7%) patients revealed a bilateral vestibular hyporeflexia. There was no linear relationship between AHI, age, BMI with SPV of caloric test (P > 0.05). The SPV had significant difference between Lower LSaO₂group (LSaO₂< 50%) and higher LSaO₂group (LSaO₂≥ 80%) (P < 0.05). LSaO₂was lower in patients undertaken bilateral vestibular hyporeflexia.</p><p><b>CONCLUSIONS</b>OSAHS patients with long-term intermittent hypoxia can disturb the vestibular organs and reduce semicircular canal function. The heavier hypoxemia will lead to the lower reflex of semicircular canal, with the heavier degree of hypoxemia, and the bilateral horizontal semicircular canal involvement may also be higher at the same time. Due to the effect of vestibule centre compensatory, OSAHS patients lack of dizziness and symptoms from balance disturbances such as typically acute vestibular damage.</p>

Study on the psychologic status and personality traits of patients with obstructive sleep apnea hypopnea syndrome / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To explore the personality and character of obstructive sleep apnea hypopnea syndrome (OSAHS) patients.</p><p><b>METHODS</b>Subjects, recruited from May 2013 to February 2014, were assigned to the severe OSAHS group (56 cases), mild-moderate OSAHS group (59 cases), and control group (42 cases) on the basis of apnea hyponea index (AHI). Subjects were assigned to the severe hypoxemia group (24 cases), mild-moderate hypoxemia group (91 cases) on the basis of PaO2. The psychological aspects of subjects were assessed by using the Minnesota multiphasic personality inventory (MMPI).</p><p><b>RESULTS</b>Compared between OSAHS group and the control group, differences of 6 clinical scales depression (D), hysteria (Hy), masculinity (Mf), paranoia (Pa), anxiety (A), ego strength (Es) were significant (t value was 2.609, 2.133, -2.294, 2.520, 2.041, 2.675 respectively, all P < 0.05). The scores of OSAHS group were higher than the control group on five clinical scales, depression (D), hysteria (Hy), paranoia (Pa), anxiety (A), ego strength (ES). The scores of OSAHS group were lower than the control group on clinical scale masculinity (Mf). Compared between severe OSAHS group and mild-moderate OSAHS group, differences of 6 clinical scales depression (D), paranoia (Pa), psychasthenia (Pt) anxiety (A), manifest anxiety scale (MAS), dependency (Dy) were significant (t value was 2.460, 2.086, 2.181, 2.121, 2.954, 1.982, respectively). The scores of severe OSAHS group were all higher than the mild-moderate OSAHS group on these six clinical scales. Compared between severe hypoxemia group and the contrast group, differences of 4 clinical scales depression (D), masculinity (Mf), paranoia (Pa), ego strength (Es) were significant (t value was respectively 2.992, -2.221, 2.164, 2.165, all P < 0.05). The scores of severe hypoxemia group were higher than the control group on 3 clinical scales, depression (D), paranoia (Pa), ego strength (ES), and lower than the control group on clinical scale masculinity (Mf). Compared between severe hypoxemia group and mild-moderate hypoxemia group, psychasthenia (Pt) were significant (t value was 1.984). The scores of severe hypoxemia group were higher.</p><p><b>CONCLUSIONS</b>Compared with health people, OSAHS patients have special personality and character. The degree of OSAHS can infect the personality and character of OSAHS patients.</p>

Subjective and Objective Assessment of Quality of Life for Coblation-Assisted Operation in Patients with Severe OSAHS / 天津医药

Objective To evaluate the subjective and objective improvement of quality of life in patients with low-temperature plasma-assisted modified uvulopalatopharyngoplasty (H-UPPP) combined with lymphoidectomy in radix lin-guae and coblation-channeling of the tongue(CCT) treating for severe obstructive sleep apnea hypopnea syndrome (OSAHS) , and compare the surgical efficacy with that of H-UPPP. Methods A total of 81patients with severe OSAHS were divided in-to treatment group (n=42) and control group (n=39). Treatment group underwent the low-temperature plasma-assisted H-UPPP combining lymphoidectomy in radix linguae and CCT,and control group underwent H-UPPP treatment. The apnea hy-popnea index (AHI), the lowest saturation of arterial oxygen (LSaO2) and Quebec sleep questionnaire (QSQ) and Epworth sleepiness scale (ESS) before operation and 6-month after operation were recorded and compared between two groups. Re-sults All of detection indicators were significantly improved after operation in treatment group (P＜0.01). The total surgical efficacy was significantly higher in treatment group than that of control group (83.3%vs 12.8%,χ2=40.225,P＜0.01). The to-tal improvement rate of five dimensions in QSQ such as daytime sleepiness symptoms (76.2%vs 25.6%), signs during the day (71.4%vs 10.2%) and night (54.8%vs 5.1%), emotion (54.8%vs 2.5%), ability of social intercourse (50.0%vs 2.5%) and the total score (57.1%vs 7.7%) after operation were significantly higher in treatment group than those of control group. The se-vere indexes of ESS decreased to 23.8% after operation in treatment group than those of control group (51.3%). Conclu-sion Low-temperature plasma-assisted H-UPPP combined with lymphoidectomy in radix linguae and CCT is effective in patients with severe OSAHS, which can also improve the quality of life postoperatively.

Study on relationship between the level of plasma soluble P-selectin and pediatric migraine / 临床儿科杂志

Objective To study the relationship between the level of plasma soluble P-selectin and pediatric migraine. Methods ABC-ELISA method was used to detect the soluble P-selectin levels in migraine patients (migraine group), migraine patients under control (control group) and healthy children (healthy control group). Transcranial Doppler ultrasound (TCD) and the platelet count were performed. Correlation of P-selectin and platelet count was analyzed. Results Plasma soluble P-selectin level in migraine group was significantly higher than that in the control group and the healthy control group (both P 0.05). TCD showed cerebral vasospasm more frequent in the migraine group than the control group, with significant difference (P < 0.05). Blood examination revealed that platelet count of migraine group is higher than that of the control group and the healthy control group, with significant differences (P < 0.05). When migraine was under control, the level of plasma soluble P-selectin reduced to normal and the frequncy of cerebral vasospasm and platelet counts were also within normal range. Plasma soluble P-selectin level and platelet count were positively correlated (r = 0.996, P < 0.01). Conclusions Plasma soluble P-selectin increased in migraine children, the incidence of cerebral vasospasm was significantly increased. Plasma soluble P-selectin level and platelet count were positively correlated. Plasma soluble P-selectin can be used as one of the indicators of diagnosis, treatment and efficacy evaluation in pediatric migraine.

Oncologic outcome of carbon dioxide laser microsurgery for early glottic carcinoma / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To explore the oncologic efficacy of transoral endoscopic CO2 laser surgery in early glottic carcinoma.@*METHOD@#Retrospectively study 91 patients with glottic carcinoma (9 Tis, 45 pT1a, 25 pT1b, 12 pT2) treated in our department from October 1999 to August 2004. Surgical treatment included endoscopic CO2 laser cordectomies according to the classification of the European Laryngological Society in 2000.@*RESULT@#According to the Kaplan-Meier method, the probability of remaining free of local recurrence 5 years after primary surgery alone was 100.00% for the Tis, 93.33% for the T1a, 84.00% for T1b and 75.00% for the T2 respectively, without statistical significance of various groups by the Log-Rank tests (P > 0.05). The probability of remaining free of local recurrence 5 years after primary surgery alone was 78.57% (6/28) of tumors offended the anterior commissure, versus 93.65% (4/63) with no involvement of anterior commissure, have statistical significance (P < 0.01). The 5 year overall survival and the disease free survival were 92.72% and 84.62% respectively. Perceptive evaluation was performed with the "GRBAS" evaluation system 6 month after laser operation. All patients in the group of type I and type II had an normal voice or mild dysphonia. The patients treated with type III, type IV and type V had a mild or moderate vocal disease.@*CONCLUSION@#According to the present series, endoscopic CO2 laser surgery is an effective treatment for early glottic cancer.