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1.
Chinese Journal of Primary Medicine and Pharmacy ; (12): 561-564, 2023.
Article in Chinese | WPRIM | ID: wpr-991786

ABSTRACT

Objective:To investigate the correlation between exhaled nitric oxide and obstructive sleep apnea-hypopnea syndrome (OSAHS).Methods:Eighty patients with OSAHS (OSAHS group) who received treatment in Pingxiang People's Hospital from September 2019 to September 2021 were included in this study. An additional 60 patients with snoring (snoring group) who concurrently received treatment in the same hospital were included in the control group. The value of exhaled nitric oxide was measured using an exhaled nitric oxide detector. The relationship between exhaled nitric oxide and apnea-hypopnea index, and the lowest oxygen saturation level during sleep (LSaO 2) was analyzed using Pearson correlation analysis. The optimal cut-off value of exhaled nitric oxide for predicting OSAHS was analyzed using the receiver operating characteristic curve. Results:Exhaled nitric oxide and apnea-hypopnea index in the OSAHS group were (18.61 ± 6.23) μg/L and (44.50 ± 16.15) times/hour, respectively, which were significantly greater than (11.17 ± 4.31) μg/L and (2.91 ± 0.79) times/hour in the snoring group ( t = 7.94, 14.08, both P < 0.05). LSaO 2 in the OSAHS group was significantly lower than that in the snoring group [(66.53 ± 10.17)% vs. (92.15 ± 1.62)%, t = -13.61, P < 0.05]. Correlation analysis showed that exhaled nitric oxide levels in patients with OSAHS were positively correlated with apnea-hyponea index ( r = 0.56, P = 0.001), and negatively correlated with the lowest oxygen saturation level ( r = -0.54, P = 0.002). The receiver operating characteristic curve analysis revealed that when the optimal cut-off value of exhaled nitric oxide was 11.5 μg/L, the area under the curve was 0.846, with sensitivity of 91.3%, and specificity of 63.3%. Conclusion:Patients with OSAHS have airway inflammatory reactions. The level of nitric oxide in exhaled air is positively correlated with the severity of OSAHS, which has a certain clinical value.

2.
Chinese Journal of Biologicals ; (12): 133-137, 2023.
Article in Chinese | WPRIM | ID: wpr-965606

ABSTRACT

Transient forebrain ischemia-reperfusion(I/R);Brain-derived neurotrophic factor(BDNF);Histone deacetylase 3(HDAC3);Hippocampus@#Objective To evaluate the effect of transient forebrain ischemia-reperfusion(I/R)on the binding of brainderived neurotrophic factor(BDNF)promoters to histone deacetylase 3(HDAC3)in the hippocampus of rat and investigate its mechanism.Methods The I/R model of SD rats(I/R group)was established by Pulsinelli four-vessel clamping method,and sham operation group(Sham group)was set at the same time,which were observed for the survival of neurons in the hippocampus of rats by Nissl staining,detected for the binding of BDNF promoters(Bdnf-p1,Bdnf-p2,Bdnf-p4 and Bdnf-p6)to HDAC3 by chromatin immunoprecipitation(ChIP)and determined for the expression of brain derived neurotrophic factor antisense(BDNF-AS)by qPCR.Results Compared with Sham group,the quantity of neurons in hippocampal CA1 region of rats decreased significantly in I/R group,while those in CA3 region and DG region showed no significant changes.The binding levels of Bdnf-p1 and Bdnf-p2 to HDAC3 in hippocampal CA1 region decreased significantly in I/R Group(t = 2.575 and 2.241 respectively,each P<0.05),while there was no significant difference in the binding levels of Bdnf-p4 and Bdnf-p6 to HDAC3(t = 1.033 and 0.348 respectively,each P>0.05);The binding levels of Bdnf-p1 and Bdnf-p2 to HDAC3 in CA3 region increased significantly(t = 12.600 and 3.191,P<0.001 and<0.05,respectively),while the binding level of Bdnf-p6 to HDAC3 decreased significantly(t = 4.029,P<0.05)and no significant difference was observed in the binding level of Bdnf-p4 to HDAC3(t = 0.175,P>0.05);In DG region,the binding level of each BDNF promoter to HDAC3 showed no significantly difference(t = 0.630 ~ 1.687,each P>0.05).Meanwhile,the expression level of BDNF-AS in hippocampal CA1 region of rats decreased significantly(t = 2.560,P<0.05),but increased significantly in hippocampal CA3 and DG regions(t = 3.543 and 3.637 respectively,each P<0.01)in I/R group.Conclusion I/R showed a significant effect on the binding level of BDNF promoter to HDAC3 in rat hippocampus,which may play a role by changing the expression level of BDNF-AS.

3.
International Eye Science ; (12): 494-497, 2023.
Article in Chinese | WPRIM | ID: wpr-964255

ABSTRACT

AIM: To observe the visual improvement and anatomical closure of patients with full-thickness macular hole(FTMH)accompanied by lamellar hole-associated epiretinal proliferation(LHEP)after vitrectomy.METHODS: A retrospective study of clinical cases. A total of 28 cases(28 eyes)of patients diagnosed with FTMH in our hospital between January 2018 and January 2022 were included, and they were divided into 12 cases(12 eyes)in the LHEP group and 16 cases(16 eyes)in the non-LHEP group according to the presence or absence of LHEP. All subjects had undergone vitrectomy. The best corrected visual acuity(BCVA)before and 1a after operation, hole closure, continuity of ellipsoid zone and external limiting membrane(ELM), intraocular pressure(IOP), and postoperative complications were compared between the two groups.RESULTS: Preoperative BCVA(LogMAR)was 0.80±0.17 in the LHEP group and 0.92±0.27 in the non-LHEP group(t=1.406, P=0.172); BCVA at 1a after operation was 0.54±0.14 in the LHEP group and 0.39±0.10 in the non-LHEP group(t=3.399, P=0.002). BCVA at 1a after operation was significantly improved in both groups compared with that before operation(tLHEP group=4.029; PLHEP group=0.001; tnon-LHEP group=7.445, Pnon-LHEP group=0.001); the difference in BCVA(LogMAR)before and after the operation was 0.27±0.16 in the LHEP group and 0.52±0.26 in the non-LHEP group(t=3.153, P=0.002). The hole closed in both groups 1a after the operation, and the closure rate was 100%. The ellipsoid zone closed in 20%(2/12)of patients in the LHEP group and 56%(9/16)in the non-LHEP group(Pellipsoid zone=0.04); the ELM closed in 25%(3/12)of patients in the LHEP group and 69%(11/16)in the non-LHEP group(PELM=0.027). A postoperative transient IOP elevation occurred in 2 eyes of the LHEP group and 3 eyes of the non-LHEP group, respectively. There were no significant cataract or serious complications after the vitrectomy in either group.CONCLUSIONS: Compared with FTMH patients without LHEP, the BCVA improvement after vitrectomy was less in FTMH patients with LHEP. Although their macular hole was closed, the closure rates of ellipsoid zone and ELM were lower, and the duration of continuity interruption was longer, so the prognosis requires further clarification.

4.
Journal of Forensic Medicine ; (6): 579-583, 2022.
Article in English | WPRIM | ID: wpr-984149

ABSTRACT

OBJECTIVES@#To study the cooling reaction kinetic characteristics of the temperature difference between cadaver temperature and ambient temperature (hereinafter referred to as "cadaver temperature difference") according to the reaction kinetics method.@*METHODS@#Thirty rabbits were randomly divided into 5 groups with 6 rabbits in each group. The rabbits were injected with 10% potassium chloride solution intravenously. After death, the rabbits were placed at 5 ℃, 10 ℃, 15 ℃, 20 ℃ and 25 ℃ environment condition, respectively, and the rectal temperature was measured every minute for 20 hours. The measured cadaver temperature was subtracted from ambient temperature, and the cadaver temperature difference data was calculated using the reaction kinetics formula. The linear regression equation was fitted for analysis, and the experimental results were applied to the temperature difference data of human body after death for verification.@*RESULTS@#Under different environmental conditions, the linear coefficient determination of temperature difference -ln(C/C0) in rabbits was 0.99, showing a good linear relationship with time t. The application of human body temperature data after death was consistent with the results of animal experiments.@*CONCLUSIONS@#Under stable conditions, the temperature difference cooling process after death in rabbits is a first-order kinetic response. The method can also be used to study the temperature difference in human body after death.


Subject(s)
Animals , Humans , Rabbits , Body Temperature , Temperature , Kinetics , Cadaver
5.
Acta Pharmaceutica Sinica ; (12): 1863-1867, 2022.
Article in Chinese | WPRIM | ID: wpr-929424

ABSTRACT

The ethyl acetate part of the alcoholic extract of Cordia dichotoma fruits was purified by a combination of normal-phase silica gel column chromatography, Sephadex LH-20 gel column chromatography and semi-preparative HPLC, and the structure was identified by modern spectroscopic techniques (UV, IR, MS, NMR). A total of 10 compounds were isolated and identified as cordilide (1), (S)-2-hydroxy-3-(4′-hydroxyphenyl) propanoic acid (2), vanillic acid (3), p-coumaric acid (4), 3-hydroxy-1-(4-hydroxy-3-methoxyphenyl)propan-1-one (5), benzoic acid (6), p-hydroxypropiophenone (7), p-hydroxyacetophenone (8), 5′-methoxyevofolin B (9) and vanillin (10). Among them, compound 1 is a pair of new phenylpropanoid enantiomers, and compounds 3, 6, 8 and 9 were isolated for the first time from the genus.

6.
Chinese Journal of Dermatology ; (12): 653-658, 2022.
Article in Chinese | WPRIM | ID: wpr-957718

ABSTRACT

Objective:To analyze gene mutations in and clinical phenotypes of 4 children with recessive dystrophic epidermolysis bullosa (RDEB) .Methods:Clinical data were collected from 4 children with RDEB, and DNA was extracted from peripheral blood samples of the children and their parents. A multi-gene panel targeting congenital epidermolysis bullosa was used for high-throughput sequencing. After identification of causative gene mutations, Sanger sequencing was performed to bidirectionally verify the mutations in the patients and their parents.Results:Genetic testing showed 8 compound heterozygous mutations in the COL7A1 gene in the 4 cases. Case 1 was diagnosed with moderate generalized RDEB, and inherited a paternal mutation c.7828C>T and a maternal mutation c.448G> A; case 2 was also diagnosed with moderate generalized RDEB, and inherited a paternal mutation c.3625_3635del and a maternal mutation c.2726_2728del; case 3 was diagnosed with localized RDEB, carrying a paternal mutation c.682+1G>A and an allelic mutation c.5532+1G>A, but the mutation c.5532+1G>A was not identified in the DNA extracted from the parental peripheral blood samples; case 4 was diagnosed with severe generalized RDEB, and inherited a paternal mutation c.5196delC and a maternal mutation c.500_501insAGGG. Among these mutations, c.2726_2728del and c.5196delC had not been reported previously.Conclusions:All the 4 children with RDEB carried compound heterozygous mutations in the COL7A1 gene, which may be the cause of RDEB. The phenotypes of biallelic frameshift mutation carriers appearred more severe than those of carriers of compound heterozygous mutations composed of biallelic splice site, missense and nonsense, frameshift and amino acid deletion or insertion mutations.

7.
Chinese Journal of Dermatology ; (12): 696-699, 2022.
Article in Chinese | WPRIM | ID: wpr-957709

ABSTRACT

Objective:To analyze pathogenic mutations in a child with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome.Methods:Clinical data were collected from a patient with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, and DNA was extracted from peripheral blood samples from the patient and his parents. High-throughput sequencing was performed in the patient by using a gene panel targeting hereditary skin diseases, aiming to determine sites of disease-causing gene mutations. Then, Sanger sequencing was conducted to bidirectionally verify the mutations in the patient and his parents.Results:The male patient aged 3 years and 9 months, and presented with extensive erythema, scales, erosions as well as repeated infections and erosions of the scalp after birth. Reticulated hyper- and hypopigmented patches and scars left on the trunk and limbs after healing of erosions. Physical examination also showed sparse scalp hair, absence of most eyebrows and eyelashes, cleft palate, dysplastic teeth, dystrophic finger and toe nails, and deformed ears without ankyloblepharon. Genetic testing of the patient showed a novel heterozygous missense mutation c.1790T>A (p.Ile597Asn) in the TP63 gene, which had not been reported previously and was rated as pathogenic according to the American College of Medical Genetics and Genomics guidelines. This mutation was not identified in either of his parents.Conclusion:The novel heterozygous missense mutation c.1790T>A in the TP63 gene probably contributes to ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in the patient, which expands genotypic and phenotypic spectrum of this disease.

8.
Chinese Journal of Preventive Medicine ; (12): 561-566, 2022.
Article in Chinese | WPRIM | ID: wpr-935325

ABSTRACT

Objective: To explore the effect of fine particulate matter (PM2.5) pollution on depression hospitalization cost and length of stay in 57 cities of China. Methods: A total of 84 207 patients with depression in 57 cities of China from January 2013 to December 2017 were selected as the subjects. The demographic characteristics and hospitalization status of the patients were obtained from the database of basic medical insurance for urban workers and urban residents in China. The environmental exposure data of the same period were obtained from the national air quality real-time release platform of China Environmental Monitoring Station. A generalized additive model based on quasi-Poisson distribution was used to analyze PM2.5 exposure effect in each city, and the nonlinear mixing of moving average temperature, relative humidity and date was controlled by natural smooth spline function. Results: Among the included cities, southern cities accounted for 50.88% (29), and the number of female inpatients, hospitalization costs and hospitalization days accounted for 62.65%, 63.50% and 60.85% (42 735 cases, 567.78 million yuan and 1.14 million days, respectively). The proportion of hospitalized cases, hospitalization cost and length of stay in the age group of 40 to 64 years old were 59.15% (40 346 cases), 53.92% (482.15 million yuan) and 52.07% (0.98 million days), respectively. PM2.5 level was positively correlated with the number of hospitalized cases with depression, hospitalization cost and length of stay. When the 3-day moving average of PM2.5 exposure level increased by 10 μg/m3, the number of hospitalization cases increased by 0.64%. The attributed percentage (95%CI) of hospitalized cases, hospitalization costs and length of stay were 3.35% (0.57%-6.04%), 3.04% (0.52%-5.48%) and 3.07% (0.49%-5.56%), respectively. Subgroup analysis showed that the attributed percentage of hospitalization cases, hospitalization cost and length of stay to PM2.5 exposure ranged from 3.97% to 4.68%, 4.04% to 4.33% and 4.13% to 4.30% in northern China, male and cold season, respectively. Conclusion: PM2.5 exposure is associated with the increase of hospitalization cost and length of stay among Chinese urban population with depression.


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Air Pollutants/analysis , Air Pollution/analysis , China/epidemiology , Depression , Dust/analysis , Hospitalization , Particulate Matter/analysis
9.
Asian Pacific Journal of Tropical Biomedicine ; (12): 253-261, 2022.
Article in Chinese | WPRIM | ID: wpr-950185

ABSTRACT

Objective: To investigate the effect and its underlying molecular mechanisms of essential oil from Saussurea costus in esophageal cancer cell line Eca109. Methods: The chemical composition of essential oil from Saussurea costus was investigated by gas chromatography-mass spectrometry (GC-MS). The anti-proliferative, anti-migrative, and apoptotic effects of essential oil from Saussurea costus against Eca109 cells were analyzed. Moreover, the expression of proteins associated with cell cycle, metastasis, and apoptosis was determined. Results: GC-MS analysis showed that essential oil from Saussurea costus was predominantly comprised of sesquiterpenes. Saussurea costus essential oil inhibited the viability of Eca109 cells in a dose-and time-dependent manner with IC 50 values of (24.29±1.49), (19.16±2.27) and (6.97±0.86) μg/mL at 12, 24, and 48 h, respectively. The expression levels of target proteins in the cell cycle (phase G 1 /S), including cyclin D1, p21, and p53, were affected by Saussurea costus essential oil. The essential oil also downregulated the expression of metastasis-related proteins MMP-9 and MMP-2. Moreover, it induced apoptosis of Eca109 cells through the mitochondrial pathway, as well as inhibition of STAT3 phosphorylation. Conclusions: The essential oil from Saussurea costus exhibited anti-proliferative, anti-migrative, and apoptotic effects on Eca109 cells, and could be further explored as a potential anti-esophageal cancer agent.

10.
Asian Pacific Journal of Tropical Medicine ; (12): 253-261, 2022.
Article in Chinese | WPRIM | ID: wpr-941576

ABSTRACT

Objective: To investigate the effect and its underlying molecular mechanisms of essential oil from Saussurea costus in esophageal cancer cell line Eca109. Methods: The chemical composition of essential oil from Saussurea costus was investigated by gas chromatography-mass spectrometry (GC-MS). The anti-proliferative, anti-migrative, and apoptotic effects of essential oil from Saussurea costus against Eca109 cells were analyzed. Moreover, the expression of proteins associated with cell cycle, metastasis, and apoptosis was determined. Results: GC-MS analysis showed that essential oil from Saussurea costus was predominantly comprised of sesquiterpenes. Saussurea costus essential oil inhibited the viability of Eca109 cells in a dose-and time-dependent manner with IC 50 values of (24.29±1.49), (19.16±2.27) and (6.97±0.86) μg/mL at 12, 24, and 48 h, respectively. The expression levels of target proteins in the cell cycle (phase G 1 /S), including cyclin D1, p21, and p53, were affected by Saussurea costus essential oil. The essential oil also downregulated the expression of metastasis-related proteins MMP-9 and MMP-2. Moreover, it induced apoptosis of Eca109 cells through the mitochondrial pathway, as well as inhibition of STAT3 phosphorylation. Conclusions: The essential oil from Saussurea costus exhibited anti-proliferative, anti-migrative, and apoptotic effects on Eca109 cells, and could be further explored as a potential anti-esophageal cancer agent.

11.
Acta Pharmaceutica Sinica ; (12): 2767-2773, 2022.
Article in Chinese | WPRIM | ID: wpr-941494

ABSTRACT

Silica gel column chromatography, reversed phase C18 column chromatography, Sephadex LH-20 gel column chromatography, high performance liquid chromatography and medium performance semi preparative liquid chromatography were performed to separate and purify the chemical constituents of Hypericum lagarocladum N. Robson. Spectroscopic methods such as MS and NMR combined with physicochemical properties were applied in identifying the structures of the isolated compounds. A total of 11 compounds were isolated and identified as hyperlagarone A (1), hyperpatulone E (2), hyperbeanol G (3), uralione D (4), tomoeone F (5), pyramidatone A (6), tomoeone A (7), tomoeone B (8), hyperbeanol C (9), hyperbeanol A (10), and hypercohone G (11), respectively. Compound 1 is a new polycyclic polyprenylated acylphloroglucinol derivative, and compounds 2-11 are isolated from this plant for the first time. 11 compounds were tested for glucose uptake in L6 cells, and the results showed that compounds 7 and 8 had significant effect on glucose uptake.

12.
Chinese Journal of School Health ; (12): 395-398, 2022.
Article in Chinese | WPRIM | ID: wpr-923135

ABSTRACT

Objective@#To investigate the brain function and their correlation with sleep beliefs and attitudes in adolescents with drug naive insomnia by using fractional amplitude of low frequency fluctuation, so as to provide a reference for the mechanism and treatment of insomnia.@*Methods@#An insomnia group ( n =21) recruited first episode, drug naive, adolescents with insomnia who met the diagnostic criteria of the American Diagnostic and Statistical Manual of Mental Disorders(DSM-V). Healthy subjects matched with age, gender, and educational background were selected as the control group ( n =20). Pittsburgh Sleep Quality Index Scale (PSQI), Brief Version of Dysfunctional Beliefs and Attitudes about Sleep (DBAS-16), 24 Items Hamilton Depression Scale (HAMD-24), 14 Items Hamilton Anxiety Scale (HAMA-14) were evaluated. Fractional amplitude of low frequency fluctuation was used for analysis, and Pearson correlation analysis was employed to quantify the correlation between peak values of brain regions with significant differences and the clinical scale scores of the two groups.@*Results@#Compared with the control group, ractional amplitude of low frequency fluctuation(fALFF) values in the insomnia group were significantly decreased ( P <0.01, Alphaism corrected) in the left dorsolateral prefrontal lobe (L-DLPFC, MNI coordinates: -12, 60, 21, t =-3.85, K =495) and the left precuneus (MNI coordinates: -3, -54, 51, t =-4.29, K =417). The fALFF value of L-DLPFC in the insomnia group was positively correlated with DBAS-16 score ( r= 0.47 , P = 0.04 ).@*Conclusion@#Abnormalities in the L-DLPFC region suggest that adolescents with insomnia may suffer from impaired regulation of emotional and cognitive activities related to sleep.

13.
Biol. Res ; 55: 5-5, 2022. graf, ilus
Article in English | LILACS | ID: biblio-1383910

ABSTRACT

BACKGROUND: G protein coupled receptor kinase 2 (GRK2) has been demonstrated to play a crucial role in the development of chronic pain. Acupuncture is an alternative therapy widely used for pain management. In this study, we investigated the role of spinal neuronal GRK2 in electroacupuncture (EA) analgesia. METHODS: The mice model of inflammatory pain was built by subcutaneous injection of Complete Freund's Adjuvant (CFA) into the plantar surface of the hind paws. The mechanical allodynia of mice was examined by von Frey test. The mice were subjected to EA treatment (BL60 and ST36 acupuncture points) for 1 week. Overexpression and down-regulation of spinal neuronal GRK2 were achieved by intraspinal injection of adeno associated virus (AAV) containing neuron-specific promoters, and microglial activation and neuroinflammation were evaluated by real-time PCR. RESULTS: Intraplantar injection with CFA in mice induced the decrease of GRK2 and microglial activation along with neuroinflammation in spinal cord. EA treatment increased the spinal GRK2, reduced neuroinflammation, and significantly decreased CFA-induced mechanical allodynia. The effects of EA were markedly weakened by non-cell-specific downregulation of spinal GRK2. Further, intraspinal injection of AAV containing neuron-specific promoters specifically downregulated neuronal GRK2, and weakened the regulatory effect of EA on CFA-induced mechanical allodynia and microglial activation. Meanwhile, overexpression of spinal neuronal GRK2 decreased mechanical allodynia. All these indicated that the neuronal GRK2 mediated microglial activation and neuroinflammation, and subsequently contributed to CFA-induced inflammatory pain. CONCLUSION: The restoration of the spinal GRK2 and subsequent suppression of microglial activation and neuroinflammation might be an important mechanism for EA analgesia. Our findings further suggested that the spinal GRK2, especially neuronal GRK2, might be the potential target for EA analgesia and pain management, and we provided a new experimental basis for the EA treatment of pain.


Subject(s)
Animals , Mice , Electroacupuncture , Microglia/physiology , G-Protein-Coupled Receptor Kinase 2/physiology , Pain Management , Pain/chemically induced , Inflammation/chemically induced , Inflammation/therapy , Neurons
14.
Chinese Journal of Applied Clinical Pediatrics ; (24): 1730-1735, 2022.
Article in Chinese | WPRIM | ID: wpr-954824

ABSTRACT

Objective:To summarize the clinical manifestations and gene mutation features of patients with nucleotide excision repair (NER) disorders.Methods:A retrospective analysis was made on clinical data of patients with NER disorders who were admitted to the Chinese People′s Liberation Army General Hospital from October 2008 to February 2022 and diagnosed in the Outpatient Department of Beijing Children′s Hospital, Capital Medical University from October 2015 to February 2022.Literature on previously reported Chinese patients with NER disorders was reviewed.Results:(1)A total of 16 patients with NER disorders were enrolled, including 6 males and 10 females.The onset age was 7.5 (4.0, 12.0) months and the age at diagnosis was 42.0 (21.5, 77.0) months.There were 3 types of NER disorders: Cockayne syndrome (CS) in 13 cases, Xeroderma Pigmentosum (XP) in 2 cases and Cerebro-Oculo-Facio-Skeletal syndrome (COFS) in 1 case.Four disease-causing genes were detected: CSA gene in 11 cases, CSB gene in 3 cases, XPG gene in 1 case, and XPD gene in 1 case.The first symptoms of the 16 patients were photosensitivity and developmental delay, and neurological symptoms were observed in all the 3 NER disorder types.XP and CS patients had skin symptoms.CS patients presented typical facial features, visual and auditory impairment, microcephaly and changes in neuroimaging features.COFS patients showed intrauterine growth retardation.(2)Results of literature review: a total of 96 Chinese patients reported were retrieved, involving 6 disease types, including CS in 45 cases, XP in 44 cases, trichothiodystrophy in 4 cases, COFS in 1 case, XP-CS in 1 case, and ultraviolet sensitive syndrome in 1 case.Nine mutated genes were identified: CSA in 33 cases, XPA in 15 cases, CSB in 13 cases, XPV in 10 cases, XPC in 9 cases, XPG in 7 cases, XPD in 7 cases, XPF in 1 case, and MPLKIP in 1 case.The common symptoms were growth failure (62 cases), skin photosensitivity (61 cases), typical facial features (52 cases), mental retardation (49 cases) and microcephaly (48 cases). Among 36 cases had imaging data 33 cases(91.7%)had calcification of basal nucleus or globus pallidus.Three cases had intrauterine growth retardation and microcephaly during pregnancy. Conclusions:Patients with such prenatal manifestations as intrauterine growth retardation and microcephaly or with typical symptoms like skin photosensitivity, typical facial features, growth failure, mental retardation, hypertonia, and calcifications of basal ganglia should be suspected of NER disorders.Early genetic testing is recommended to confirm the diagnosis.

15.
Arq. bras. cardiol ; 117(6): 1179-1188, dez. 2021. tab, graf
Article in Portuguese | LILACS-Express | LILACS | ID: biblio-1350036

ABSTRACT

Resumo Fundamento: O enxerto de bypass na artéria coronária (CABG) continua a ser eficiente como tratamento para pacientes portadores de doença arterial coronariana; entretanto, o enxerto venoso tende a apresentar reestenose ou oclusão. A adiponectina (ADP) é uma proteína hormonal plasmática com a função de regular a proliferação celular. Objetivo: Foram utilizadas duas doses diferentes da proteína ADP em um modelo de enxerto venoso em ratos para estimular a alteração do enxerto venoso. O objetivo deste estudo foi investigar o efeito da ADP sobre a reestenose em enxerto venoso. Métodos: Veias jugulares autólogas foram implantadas como enxertos interposicionais de carótida pela técnica de anastomose de manga em ratos Sprague Dawley. A adiponectina (2,5 μg e 7,5 μg) foi entregue ao enxerto venoso por bypass de forma perivascular, suspensa em gel Pluronic-F127 a 30%. O grupo tratado apenas com bypass e o grupo tratado com gel veículo carregado apenas com Pluronic funcionaram como controle. Foram feitas comparações com análise de via única de variância e teste post-hoc, com p <0,05 sendo considerado significativo. Resultados: A proliferação celular (índice de PCNA) foi significativamente baixa no grupo tratado com adiponectina em comparação com o grupo de controle e o grupo tratado com o gel veículo na íntima e na adventícia dos enxertos a partir do dia 3 (p <0,01). VCAM-1 e ICAM-1 avaliados por imuno-histoquímica diminuíram significativamente em enxertos venosos tratados com adiponectina na quarta semana (p <0,01). O tratamento de enxertos venosos com gel carregado com adiponectina reduziu a espessura da íntima, da média e da adventícia, em comparação com os enxertos de controle e tratados com gel veículo no dia 28 (p <0,01). Conclusões: Este estudo oferece evidências adicionais do possível papel terapêutico da adiponectina na modulação de lesão vascular e seu reparo.


Abstract Background: Coronary artery bypass grafting (CABG) continues to be an effective therapy for coronary artery disease patients, but the vein graft is prone to restenosis or occlude. Adiponectin (ADP) is a plasma hormone protein with the function of regulating cell proliferation. Objective: This study used two different doses of ADP protein in a rat vein graft model to stimulate vein graft change. The aim of our study was to investigate the effect of ADP on vein graft restenosis. Methods: Autologous jugular veins were implanted as carotid interposition grafts through the anastomotic cuff technique in Sprague Dawley rats. Adiponectin (2.5 μg and 7.5 μg) was delivered to the vein bypass grafts in a perivascular fashion, suspended in a 30% Pluronic-F127 gel. No treatment (bypass only) and vehicle loaded Pluronic gel served as controls. Comparisons were made with one-way analysis of variance and a post-hoc test, with p < 0.05 considered significant. Results: Cell proliferation (PCNA index) was significantly low in adiponectin-treated versus control and vehicle-gel-treated grafts, both in intima and adventitia, as of day 3 (p < 0.01). VCAM-1 and ICAM-1 evaluated by immunohistochemistry significantly down-regulated in the adiponectin-treated vein grafts in the fourth week (p <0.01). Treatment of vein grafts with adiponectin-loaded gels reduced intimal, media, and adventitia thickness when compared with the control and vehicle-gel-treated vein grafts at day 28 (p < 0.01). Conclusions: Our studies provide further support for the potential therapeutic role of adiponectin in modulating vascular injury and repair.

16.
Chinese Journal of Dermatology ; (12): 397-401, 2021.
Article in Chinese | WPRIM | ID: wpr-885227

ABSTRACT

Objective:To analyze gene mutations in 3 families with self-improving collodion ichthyosis.Methods:Clinical data were collected from 3 patients with self-improving collodion ichthyosis. DNA was extracted from the peripheral blood of patients and their parents, and high-throughput sequencing was performed in the patients by using a multi-gene panel targeting congenital ichthyosis. After identification of causative gene loci, Sanger sequencing was performed to bidirectionally verify the mutations in the patients and their parents.Results:All the 3 patients presented with a collodion-like membrane at birth, which was shed within 2-4 weeks after birth, and then they gradually showed similar features of mild ichthyosis, including dry skin, tiny scales at local sites, flexural involvement, mild sweating, heat intolerance, cheek flushing, mild palmoplantar keratosis or palmar hyperlinearity. Compound heterozygous mutations were identified in the ALOX12B gene of the 3 patients, including a paternal mutation c.406_408delGAG and a maternal mutation c.77T>C in case 1, a paternal mutation c.1013C>T and a maternal mutation c.1286C>G in case 2, a paternal mutation c.1232T>C and a maternal mutation c.1440C>A in case 3. Function prediction analysis showed that 4 missense mutations c.77T>C, c.1286C>G, c.1013C>T, c.1232T>C and 1 deletion mutation c.406_408delGAG may exert pathogenic effect, and 1 nonsense mutation c.1440C>A led to the generation of a termination codon encoding a truncated protein p.Tyr480Ter, which may affect the protein function and cause disease. None of the 6 mutation sites had been reported in the past.Conclusion:Compound heterozygous pathogenic mutations were identified in the ALOX12B gene of the 3 patients with self-improving collodion ichthyosis, which were inherited from their parents.

17.
China Journal of Chinese Materia Medica ; (24): 4881-4890, 2021.
Article in Chinese | WPRIM | ID: wpr-921624

ABSTRACT

Hypericum species are distributed widely in China, especially in the southwest. This genus is rich in species types in China, including 55 species and 8 subspecies. The main chemical constituents of Hypericum species are flavonoids, xanthones and polycyclic polyprenylated acylphloroglucinols(PPAPs). PPAPs are characterized by polycyclic and branched-chain substitutions in their structures, which make their structure types diverse. Moreover, they have been found to have antitumor, antiviral, antibacterial, anti-inflammatory and other biological activities. This research classified and summarized 344 polycyclic polyprenylated acylphloroglucinols from Hypericum plants in order to provide a scientific basis for further development and utilization of PPAPs from the genus.


Subject(s)
Flavonoids , Hypericum , Molecular Structure , Phloroglucinol/pharmacology , Xanthones
18.
Chinese Journal of Experimental Traditional Medical Formulae ; (24): 93-97, 2021.
Article in Chinese | WPRIM | ID: wpr-906211

ABSTRACT

Objective:To study the clinical efficacy of orthopedics No.1 prescription combined with celecoxib in the treatment of knee osteoarthritis (KOA) with middle stage of cold-dampness syndrome and investigate its effect on serum cytokines levels. Method:The 72 patients were randomly divided into control group and observation group, with 36 cases each. Patients in both groups were given basic treatment with oral celecoxib capsules (0.2 g/ time, 1 time/day). On the basis of western medicine treatment, patients in observation group were treated with orthopedics No.1 prescription decoction-free granules by fumigation, 1 bag/time, 1 time/day, 5 times/week. Both groups received treatment for 4 weeks. The visual analog pain score (VAS), American knee society knee score (KSS), serum interleukin-1<italic>β </italic>(IL-1<italic>β</italic>), tumor necrosis factor-<italic>α </italic>(TNF-<italic>α</italic>), and transforming growth factor-<italic>β</italic><sub>1 </sub>(TGF-<italic>β</italic><sub>1</sub>) levels were observed before and after treatment, and their clinical efficacy was evaluated. Result:After treatment, VAS score significantly decreased in both groups (<italic>P</italic><0.01), and KSS score significantly increased (<italic>P</italic><0.01), with better clinical effect in observation group. After treatment, serum IL-1<italic>β</italic> and TNF-<italic>α</italic> levels decreased significantly in both groups (<italic>P</italic><0.01), and the levels in observation group were lower than those in control group after treatment (<italic>P</italic><0.05). TGF<italic>-β</italic><sub>1 </sub>content was significantly higher than that before treatment in two groups (<italic>P</italic><0.01). Conclusion:Orthopedics No.1 prescription combined with celecoxib for the treatment of KOA with middle stage of cold-dampness syndrome can effectively relieve the clinical symptoms of patients with KOA, improve joint function, improve quality of life, reduce the contents of inflammatory factors IL-1<italic>β</italic> and TNF-<italic>α</italic> in serum, and increase the expression of TGF-<italic>β</italic><sub>1</sub> level.

19.
Journal of Preventive Medicine ; (12): 217-220, 2021.
Article in Chinese | WPRIM | ID: wpr-876104

ABSTRACT

Objective@#To assess the risk of public health emergencies in Zhejiang Province, March 2021. @*Methods@#An expert counsel was conducted to assess the risk of coronavirus disease 2019 ( COVID-19 ) , enteritis due to norovirus, chicken pox and influenza by professionals in Zhejiang CDC, based on the information from infectious disease and public health emergency surveillance in Zhejiang Province, domestic health administrative departments, World Health Organization, and European CDC. @*Results@#In March 2021, the risk of imported COVID-19 epidemic will be high in Zhejiang Province, and the possibility of local spread could not be ruled out. The possibility of a large-scale outbreak of enteritis due to norovirus and a small-scale outbreak of chickenpox in schools and kindergartens could not be ruled out after the new term begins. An increased risk of influenza epidemic is predicted in collective units such as schools and kindergartens, yet the risk of a large-scale one will be low.@*Conclusion@#High attention should be paid to COVID-19 and enteritis due to norovirus, and general attention should be paid to chicken pox and influenza outbreak.

20.
Braz. J. Pharm. Sci. (Online) ; 57: e181079, 2021. tab, graf
Article in English | LILACS | ID: biblio-1350243

ABSTRACT

The aim of the current study was to explore the correlation between physical properties of wet masses and pellet quality by using powdered herbal slices as model drugs. Wet masses with 100 formulations were prepared by taking 20 kinds of powdered herbal slices as model drugs, microcrystalline cellulose as pelletization aid and five levels of added water as liquid binder. Physical properties of the wet masses such as hardness, adhesiveness, springiness, cohesiveness, chewiness, and resilience were measured by a texture analyzer. Meanwhile, the moisture retention capacities (MRC) of powdered herbal slices and wet masses were determined. Particles were classified after they were produced during spheronization. Principal component analysis, factor analysis and classification analysis were performed on the data. Wet masses could be classified into three groups by taking Ha as the first classification index and Ha/Sp as the second classification index. The correct rate of the classification was 91.00%. If Ha value of wet masses was greater than 15610 g, pellets of type ① would form, otherwise, pellets of type ② or type ③ would form based on Ha/Sp value. Then a classification plot of wet masses was developed to predict pellet formation of powdered herbal slices. Meanwhile, the probable mechanism of pellets formation during spheronisation was concluded in this study, which provided useful information to improve pellet quality


Subject(s)
Drugs, Chinese Herbal/analysis , Water/pharmacology , Classification , Methods , Pharmaceutical Preparations/analysis
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