1.A Case Report of Primary Hypertrophic Osteoarthropathy
Zongxuan ZHAO ; Liying SUN ; Jia CHEN ; Yanyuan WANG ; Dan CHEN ; Qingyao ZUO ; Wei DENG ; Wen TIAN
JOURNAL OF RARE DISEASES 2024;3(2):241-245
Primary hypertrophic osteoarthropathy(PHO)is a rare disease also known as pachydermo-periostosis.We reported a painless case whose diagnosis was confirmed by genetic test.A 24-year-old male presented a series of symptoms that first began at 14.He suffered from progressive clubbed-fingers accompa-nied by swelling of the wrist and ankle joints.Facial skin concentric thickening and alar nose broadening ap-peared simultaneously and increased progressively.He was also prone to acne and hyperhidrosis.X-rays showed thickening of the metacarpal and phalangeal bones,as well as symmetrical periosteal ossification of both the tibia and fibula.Clinical diagnosis of PHO is difficult because of the variable features.With acromeg-aly excluded,the diagnosis was confirmed by a genetic test.Whole exome sequencing revealed a heterozygous SLCO2A1 c.611C>T(p.Ser204Lue)and SLCO2A1 c.1602C>A(p.Asn534Lys)mutation from each par-ent.It suggests that primary hypertrophic osteoarthropathy should be considered for young limb hypertrophic patients especially when periosteal thickening signs were showed in X-ray.A confirmatory diagnosis can be made through the genetic test.
2.Blood vitamin characteristics and their correlation with severity in patients with metabolic-related fatty liver disease
XIONG Bo ; ZHENG Jinxin ; XIE Yunqi ; RAO Liying ; LIU Xiaojun ; YU Zhijian ; DENG Qiwen
China Tropical Medicine 2024;24(1):60-
Objective To explore the characteristics of blood vitamins A, B2, B6, B12, D, E, K1, K2 and folic acid and their correlation with severity in patients with metabolic-related fatty liver disease (MAFLD). Methods From September to December 2022, a total of 473 cases of residents were recruited through community MAFLD screening activities and their health information was obtained through questionnaire survey and physical examination. The severity of hepatic steatosis was determined with FibroScan, and vitamin concentrations were determined with liquid chromatography-tandem mass spectrometry. Two independent samples' t-tests were used to assess the differences between the two groups, and univariate chi-square tests and multivariate logistic regression analysis were used to explore the related factors of MAFLD. Results Of the 473 inhabitants, 195 (41.23%, 195/473) met the diagnostic criteria for MAFLD, including mild 43 (22.05%, 43/195) cases of fatty liver, 88 (45.13%, 88/195) cases of moderate fatty liver, and 64 (32.82%, 64/195) cases of severe fatty liver. Using healthy residents collected during the same period as controls, the overall mean of vitamins A, E, K1, and K2 in the MAFLD group was higher than that of the healthy group, with a statistical difference (P<0.05). Furthermore, the concentrations of vitamins A, E, K1 and K2 increased with the severity of fatty liver [R=0.149, P=0.004; R=0.245, P<0.001; R=0.110, P=0.032; R=0.129,P=0.012]. There were statistically significant differences (P<0.05) in the blood levels of vitamin A and E between patients with moderate or severe fatty liver and the healthy population. The blood vitamins K1 and K2 in severe fatty liver patients were also different from those of healthy people (P<0.05). However, there was no significance between folic acid, vitamin D, B2, B6, B12, and MAFLD (P>0.05). Through univariate chi-square analysis and multivariate logistic regression analysis, it was found that male [Wald=5.789, P=0.034,OR=1.598(1.037-2.463)] and vitamin E≥8.13 μg/mL[Wald=14.632,P<0.001,OR=2.378(1.522-3.674)] were risk factors for moderate and severe MAFLD. Conclusions The concentrations of vitamin A, E, and K in the blood are increased in patients with MAFLD compared to the healthy population, and they are positively correlated with the severity of MAFLD. ale gender and high levels of vitamin E may be related to moderate to severe MAFLD.
3.Expert consensus on the diagnosis and treatment of insomnia in specified populations
Guihai CHEN ; Liying DENG ; Yijie DU ; Zhili HUANG ; Fan JIANG ; Furui JIN ; Yanpeng LI ; Chun-Feng LIU ; Jiyang PAN ; Yanhui PENG ; Changjun SU ; Jiyou TANG ; Tao WANG ; Zan WANG ; Huijuan WU ; Rong XUE ; Yuechang YANG ; Fengchun YU ; Huan YU ; Shuqin ZHAN ; Hongju ZHANG ; Lin ZHANG ; Zhengqing ZHAO ; Zhongxin ZHAO
Chinese Journal of Clinical Pharmacology and Therapeutics 2024;29(8):841-852
Clinicians need to focus on various points in the diagnosis and treatment of insomnia.This article prescribed the treatment protocol based on the unique features,such as insomnia in the elderly,women experiencing specific physiologi-cal periods,children insomnia,insomnia in sleep-breathing disorder patients,insomnia in patients with chronic liver and kidney dysfunction.It pro-vides some reference for clinicians while they make decision on diagnosis,differentiation and treat-ment methods.
4.Relationship between changes in female reproductive status and objective sleep measures:a study based on polysomnography
Ziwei GONG ; Liying DENG ; Ye WANG
Journal of Apoplexy and Nervous Diseases 2024;41(3):219-223
Objective To compare the general conditions, clinical characteristics, and polysomnographic features of patients before, around, and after menopause.Methods Participants were divided into premenopausal, perimenopausal, and postmenopausal groups by the age of 45 years and 55 years. General conditions, clinical characteristics, and polysomnographic indicators were compared across these groups.Results A total of 316 patients before, around, and after menopause were included in this study. There were no significant between-group differences in the body mass index, smoking and alcohol consumption rates, sleep latency, sleep duration, sleep efficiency, and the durations and proportions of deep and light sleep. The perimenopausal and postmenopausal groups showed significantly increased nocturnal awakenings and significantly decreased nocturnal oxygen saturation compared with the premenopausal group. The apnea-hypopnea index (AHI) differed significantly between the three groups, showing an increasing trend.Conclusion Changes in reproductive status do not alter objective sleep duration and efficiency, and subjective perception contributes more to sleep disturbances around menopause. Changes in nocturnal sleep continuity, the AHI, and nocturnal minimum oxygen saturation suggest complex neuro-molecular mechanisms underlying the effects of hormonal variations on sleep in women.
Perimenopause
5.Research progress on cognitive dysfunction in narcolepsy type 1
Yuxin LIU ; Liang XIE ; Liying DENG
Journal of Apoplexy and Nervous Diseases 2024;41(3):251-254
Cognitive impairment is a common consequence of narcolepsy type 1 (NT1), seriously affecting the patients' learning and working. Research evidence has indicated that patients with NT1 exhibit substantial deficits in cognitive domains such as attention, memory, and executive function. The specific mechanisms underlying cognitive impairment in NT1 remain unclear. Animal studies have revealed a close association of insufficient orexin levels in cerebrospinal fluid with cognitive dysfunction. Recent neuroimaging studies with different methodologies have unraveled structural and functional abnormalities in cognitive dysfunction caused by NT1. To date, evidence-based treatment for NT1-associated cognitive impairment is still lacking. This article provides a review of the progress on cognitive impairment in NT1.
Orexins
6.Changes of choroidal thickness in patients with superior temporal branch retinal vein occlusion complicated with macular edema
Xuemei XU ; Liying GUAN ; Litao GUO ; Ruifeng SU ; Zhihong DENG ; Jing SHI
Chinese Journal of Ocular Fundus Diseases 2022;38(9):750-754
Objective:To observe the characteristics of choroidal thickness in patients with macular edema secondary to superior temporal branch retinal vein occlusion (BRVO-ME).Methods:A retrospective control study. From November 2020 to September 2021, 30 patients (30 eyes) with BRVO-ME (BRVO-ME group) were diagnosed by ophthalmology examination in Department of Ophthalmology, The Affiliated Hospital of Chengde Medical College and 14 healthy volunteers (28 eyes) were enrolled in the study. The choroidal thickness of macular area was measured by enhanced deep imaging technique of frequency domain optical coherence tomography. According to the subdivision of the diabetic retinopathy treatment group, the choroid within the 6 mm of the macular fovea was divided into three concentric circles with the macular fovea as the center, namely, the central area with the diameter of 1 mm, the inner ring of 1-3 mm and the outer ring of 3-6 mm. The inner ring area and the outer ring area are divided into upper, lower, nasal and temporal sides, respectively, which are denoted as S3, I3, N3, T3 and S6, I6, N6, T6, totaling 9 areas. To observe the distribution characteristics of choroidal thickness in different regions of two groups of eyes. The choroidal thickness of different macular regions was compared by independent sample t-test. Results:The choroidal thicknesses in the central area, S3, T3, I3, N3, S6, T6, I6, and N6 of the eyes in the control group and BRVO-ME group were 214.11±56.04, 207.89±57.92, 214.07±54.82, 207.14±61.54, 180.18±53.53, 204.25±59.60, 193.93±51.50, 190.54±51.21, 139.82±39.84 μm and 258.00±71.14, 256.43±68.70, 252.07±72.97, 244.37±68.49, 243.10±70.93, 247.20±68.36, 221.00±61.28, 223.77±58.64, 183.20±60.15 μm. In both groups, the choroidal thickness was the thickest in the central area, gradually thinning to the nasal side and temporal side, and the nasal choroidal thickness was thinner than other regions, and N6 area was the thinnest. Compared with the control group, the choroidal thickness of central area, S3, T3, I3, N3, S6, I6 and N6 in BRVO-ME group were significantly thicker ( t=-2.899, -2.229, -2.172,-3.250, -2.543, -2.292, -3.214; P<0.05), there was no significant difference in T6 area ( t=-1.814, P=0.075). Conclusion:The choroidal thickness of macular area in patients with BRVO-ME is thicker than that in normal subjects.
7.Characteristics of norovirus in children with acute diarrhea in Beijing from 2014 to 2019
Liping JIA ; Linqing ZHAO ; Li DENG ; Liying LIU ; Huijin DONG ; Hui HUANG ; Fenghua JIN ; Yuan QIAN
Chinese Journal of Experimental and Clinical Virology 2022;36(5):508-513
Objective:To understand the characters of norovirus infection in children with acute diarrhea in Beijing from 2014 to 2019.Methods:Fecal specimens were collected from children with acute diarrhea visiting the hospital affiliated to the Capital Institute of Pediatrics from April 2014 to December 2019 for norovirus screening by reverse transcription-polymerase chain reaction (RT-PCR). Then RdRp gene and VP1 gene of norovirus (NoV) were amplified and sequenced from positive specimens and then genotyped by Norovirus Genotyping Tool 2.0.Results:Fecal specimens were collected from 2 577 cases with acute diarrhea and tested for NoV RNA in this study, of which 484 cases (18.78%, 484/2 577) were positive for NoV. NoV infection can occur all year round, with obvious seasonal distribution, the epidemic peak is in autumn and winter. There was no gender difference in the detection of NoV ( χ2=1.77, P=0.183). 399 specimens genotyped by VP1 gene with 98.25% (392/399) being GII and GII.4 Sydney as the mainly genotype (52.13%, 208/399), followed by GII.3 (19.8%, 79/399) and GII.2 (18.5%, 74/399). Then 267 specimens also were genotyped by RdRp region, which revealed that the main genotype was GII.P31 (57.3 %, 153/267), followed by GII.P12 (15.36%, 41/267) and GII.P16 (14.98 %, 40/267). Dual-typing revealed that various combination strains, GII.4 Sydney[P31] (53.18%, 142/267) as the major combination, followed by GII.3[P12] and GII.2[P16] (15.36%, 41/267 and 10.49%, 28/267). While GII.3[P12] showed a downward trend, GII.4 Sydney[P16] increased gradually. Conclusions:Norovirus is an important pathogen of acute diarrhea in children in Beijing, from 2014 to 2019, with various prevalent genotypes.
8. Strategies for the treatment of circadian dysrhythmic sleep and wakefulness disorder
Chinese Journal of Clinical Pharmacology and Therapeutics 2021;26(5):511-515
Circadian rhythm sleep-wake disorders (CRSWDs ) is a group of sleep-wake disorders caused by circadian rhythm disorder. Patients complain of difficulty in falling asleep, early waking, daytime drowsiness, which are often misdiagnosed and delayed for treatment. The American Academy of Sleep Medicine (AASM) updated the diagnostic criteria in 2014, and issued relevant treatment guidelines in 2015. In recent years, many countries have issued relevant clinical practice guidelines or consensus. The treatment of circadian rhythm sleep-wake disorder is different from the common sleep-wake disorder, with the focus on non-pharmacologic circadian rhythm regulation to reset the normal 24-hour sleep-wake rhythm. This article mainly introduces its treatment strategy and method.
9.Application of multi-department cooperation with adjustment of elective operation response time as the core in Operating Room
Xuan WEI ; Jing LI ; Liying ZHANG ; Jia TIAN ; Xuhui ZHAO ; Shuhua DENG
Chinese Journal of Modern Nursing 2021;27(16):2160-2163
Objective:To explore the effect of adjusting elective operation response time and corresponding comprehensive reform measures on the operating effect of Operating Room.Methods:From July to December 2019, the response time of elective surgery at Peking University Third Hospital was adjusted, a multi-departmental collaboration system was established, and the Operating Room management system and reward and punishment mechanism were optimized. The corresponding Operating Room medical indexes in 2018 and 2019 were reviewed and analyzed. Changes of Operating Room workload, overtime work of nursing staff in operating room, supplementary time and relaxation allowance and other indicators were compared before and after the reform.Results:Compared with January to June 2018, the number of surgeries from January to June 2019 increased ( t=-7.249, P<0.001) , and the number of overtime hours worked by nursing staff in the Operating Room increased ( t=-5.364, P=0.003) . There was no statistically significant difference in the number of relaxation allowance hours ( t=0.433, P=0.683) . After the implementation of the reform, compared with July to December 2018, the number of surgeries increased from July to December 2019 ( t=-7.112, P<0.001) , and the difference in overtime hours was not statistically significant ( t=0.433, P=0.683) , the number of relaxation allowance hours increased ( t=-8.412, P<0.001) . Conclusions:The adjustment of the response time for elective surgery and implementation of multi-department cooperation and support can optimize the Operating Room management system and reward and punishment mechanism, improve the operating efficiency while maintaining the operating room operation safety and ensure the rest time of the Operating Room nurses.
10.Polysomnographic characteristics of different clinical phenotypes of sleep related rhythmic movement (SRRM)
Shuaimei ZHANG ; Liying DENG ; Yongmin DING
Journal of Apoplexy and Nervous Diseases 2020;37(11):968-972
Objective To analyze characteristics of video polysomnography (V-PSG) for different clinical phenotypes of sleep related rhythmic movement (SRRM). Methods The clinical data of patients with sleep related rhythmic movement diagnosed by video polysomnography(V-PSG) monitoring in our sleep center from December 2017 to August 2020 were analyzed retrospectively,their genders,ages,first episode time,clinical types and PSG results were statistically analyzed. Results A total of 21 SSRM patients were performed in 959 sleep monitoring cases,including 16 males (76.2%) and 5 females (23.8%). The mean age was 27.29±11.64 years old,and 17 cases were ≥18 years old. SSRM first occurred in 9 adults (42.9%),4 children (19%),4 patients (19.0%) with unclear onset age,and 4 patients (19.0%) with adolescent onset. The movement frequency of 21 cases (100%) was lower than 0.5 times per second. The clinical manifestations were head shaking type in 10 cases (47.6%),body shaking type in 1 case (4.8%) and mixed type in 10 cases (47.6%). 14 cases occurred REM in SSRM cases (66.7%),NREM2 2 cases (9.5%%),NREM2+REM3 cases (14.3%),and awake 2 cases (9.5%). PSG showed that the sleep efficiency of SSRM patients was decreased,the latency period of REM was prolonged and the total waking time after sleep was prolonged,and the total sleep time and sleep stage ratio were approximately normal. Hamilton anxiety score was greater than 8 in 12 cases (57.14%). Conclusion Adult SSRM is not uncommon,and it is mostly the first episode in adult life. In adults,SSRM is mainly manifested as head shaking type and mixed type,and the occurrence frequency of REM is the highest. The clinical significance of SSRM and its relationship with REM sleep need to be further studied and evaluated.


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