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1.
Ultrasound Obstet Gynecol ; 63(4): 536-543, 2024 04.
Artigo em Inglês | MEDLINE | ID: mdl-37767652

RESUMO

OBJECTIVES: Non-immune hydrops fetalis (NIHF) is the pathological accumulation of fluids in fetal compartments, without maternal isoimmunization. Fetal interventions (e.g. shunting, fetal paracentesis, fetal thoracocentesis, fetal pleurodesis) are used to alleviate fluid accumulations, but the outcome is uncertain because the underlying causes of NIHF vary. We aimed to explore the etiology and long-term outcome of NIHF after fetal intervention. METHODS: This was a retrospective review of fetuses with NIHF, defined by the presence of fetal ascites, pleural or pericardial effusion, skin edema or cystic hygroma, or a combination of these features, who underwent intervention at our institution during the period 2012-2021. Clinical surveillance, genetic analysis and viral infection screening were used to define the etiology. Chart reviews and telephone interviews were conducted to assess the long-term outcomes. RESULTS: In total, 55 fetuses were enrolled and 46 cases had final follow-up data after delivery. Etiology was identified in 33 cases, including four for which the underlying causes were not identified initially using small-gene-panel tests but which were later diagnosed with monogenic disorders by whole-exome sequencing (WES). Twenty-three cases with follow-up survived, having a follow-up period of 2-11 years at the time of writing, of which 17 were healthy. All 11 cases initially presenting as congenital chylothorax survived with favorable outcome. CONCLUSIONS: The etiologies of NIHF are heterogeneous, and the long-term (spanning 2-11 years) outcome of fetal intervention varies, according to the underlying etiology, with cases caused by congenital chylothorax having the best prognosis. Genome-wide tests, such as WES, may be helpful in determining the underlying condition in cases caused by a genetic disorder, and this may affect fetal therapy approaches in the future. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Quilotórax , Derrame Pleural , Gravidez , Feminino , Humanos , Hidropisia Fetal/etiologia , Hidropisia Fetal/genética , Ascite/diagnóstico por imagem , Ascite/etiologia , Estudos Retrospectivos , Quilotórax/complicações , Derrame Pleural/etiologia , Derrame Pleural/complicações
2.
Zhonghua Yu Fang Yi Xue Za Zhi ; 57(10): 1542-1549, 2023 Oct 06.
Artigo em Chinês | MEDLINE | ID: mdl-37859369

RESUMO

Objective: To explore the epidemiological characteristics of sample distribution and antifungal susceptibilities of clinically invasive C. tropicalis isolates from 2017 to 2021 in East China. Methods: Using a retrospective analysis, the East China Invasive Fungal Infection Group (ECIFIG) collected C. tropicalis clinically isolated from 32 hospitals in East China between January 2017 and December 2021. The identification results of the strains were reviewed using mass spectrometry by the central laboratory of the Shanghai East Hospital. The minimum inhibitory concentrations (MICs) of the strains against fluconazole (FLU), voriconazole (VOR), itraconazole (ITR), Posaconazole (POS), isavuconazole (ISA), anidulafungin (ANI), caspofungin (CAS), micafungin (MICA) and 5-fluorocytosine (FCT) were tested by the ThermoFisher CMC1JHY colorimetric microdilution method. The MIC of amphotericin B (AMB) was tested by the broth microdilution method. The MIC results were analyzed based on the clinical breakpoints and epidemiological cutoff values (ECV) published by the Clinical and Laboratory Standards Institute (CLSI) M27 Ed3 and M57 Ed4 documents. Data analysis was conducted using the Kruskal-Wallis test and paired t-test. Results: In total, 305 C. tropicalis isolates were collected. There were 38.0% (116/305) strains isolated from blood, 11.5% (35/305) ascites, 8.9% (27/305) catheter and 8.9% (27/305) drainage fluid. The resistance rate of C. tropicalis to FLU was 32.5%, to VOR was 28.5%, and the cross-resistance rate to FLU and VOR was 28.5%. The wild-type proportions for ITR and POS were 79.3% and 29.2% respectively. There was no significant difference in resistance rates, MIC50, and MIC90 of FLU and VOR, or in the wild-type rates of ITR and POS over five years. More than 95.0% of the isolates were susceptible to echinocandins. However, one strain was identified as being multi-drug resistant. In azole antifungals, voriconazole, itraconazole, posaconazole, and isavuconazole have similar GM MIC values. The GM MIC of fluconazole is significantly higher than that of itraconazole (t=9.95, P<0.05), posaconazole (t=9.99, P<0.05), and voriconazole (t=10.01, P<0.05), Meanwhile, among echinocandins, the GM MIC of ANI was comparable to that of CAS (t=1.17, P>0.05), both of which were significantly higher than MICA (t=11.56, P<0.05; t=4.15, P<0.05). Conclusion: The clinical isolates of C. tropicalis in East China from 2017 to 2021 were relatively susceptible to echinocandins. However, there was consistently high resistance to fluconazole and voriconazole. More intensive efforts should be made on the monitoring of drug resistance in C. tropicalis.


Assuntos
Antifúngicos , Fluconazol , Humanos , Antifúngicos/farmacologia , Fluconazol/farmacologia , Candida tropicalis , Voriconazol/farmacologia , Itraconazol/farmacologia , Estudos Retrospectivos , Candida , China/epidemiologia , Equinocandinas/farmacologia , Testes de Sensibilidade Microbiana
3.
Zhonghua Yu Fang Yi Xue Za Zhi ; 56(8): 1050-1054, 2022 Aug 06.
Artigo em Chinês | MEDLINE | ID: mdl-35922230

RESUMO

In the current stage of prevention and control of the Omicron variant of the pandemic, makeshift hospitals played a key role in isolating and treating mild and asymptomatic patient, which helped to completely and quickly block the spread of the epidemic in the society. In order to reduce the risk of the spread of COVID-19 in makeshift hospital, prevent occupational exposure and nosocomial infections, it is necessary for all levels to actively identify risk sources, carry the risk assessment, implement comprehensive infection control risk treat, and supervise in a timely manner.


Assuntos
COVID-19 , Hospitais , Humanos , Controle de Infecções , Pandemias/prevenção & controle , Medição de Risco , SARS-CoV-2
4.
Zhonghua Xin Xue Guan Bing Za Zhi ; 50(7): 676-683, 2022 Jul 24.
Artigo em Chinês | MEDLINE | ID: mdl-35856224

RESUMO

Objective: To evaluate the impact of empagliflozin on peak oxygen uptake (VO2peak) in patients with heart failure with mildly reduced ejection fraction (HFmrEF). Methods: In this randomized controlled trial, consecutive HFmrEF patients admitted to the Department of Cardiology of China-Japan Friendship Hospital from September 2019 to October 2020 were screened, and randomly assigned to empagliflozin group (EG) or conventional group (CG) using a random number table. The enrolled patients were treated according to the guidelines, and patients in the empagliflozin group received additional empagliflozin (10 mg, once a day, orally) on top of the conventional treatment. The primary end points were VO2peak at 6 months after treatment, and the secondary end points included other parameters of cardiopulmonary exercise test (CPET), 6-minute walking distance, N-terminal B-type pro-natriuretic peptide (NT-proBNP) level, and Kansas City Cardiomyopathy Questionnaire (KCCQ) score. Results: A total of 112 patients were included (mean age 69 (57, 78) years, 84 male (75.0%)). There were 55 cases in CG group and 57 cases in EG group. There were no significant differences in baseline data including age, sex, body mass index, left ventricular ejection fraction, systolic blood pressure, heart rate, estimated glomerular filtration rate, glycosylated hemoglobin, hemoglobin, NT-proBNP, daily dose of tolasemi, combined medication, CPET parameters, the proportion of New York Heart Association heart function Ⅲ/Ⅳ, history of coronary heart disease, history of hypertension, history of diabetes (all P>0.05). At 6 months after treatment, VO2peak was significantly higher in EG group than in CG group(P=0.023). VE/VCO2 slope was significantly lower in EG group than in CG group(P=0.034). Oxygen uptake efficiency slope was significantly higher in EG group than in CG group(P=0.038). The level of NT-proBNP was significantly lower in EG group than in CG group(P=0.020). Six-minute walking distance was significantly higher in EG group than in CG group(P=0.037). KCCQ score was significantly higher in EG group than in CG group(P=0.048). Exercise oscillatory ventilation decreased in both groups (1 case in each group, P>0.05). Conclusion: Empagliflozin can significantly improve VO2peak in patients with HFmrEF.


Assuntos
Insuficiência Cardíaca , Disfunção Ventricular Esquerda , Idoso , Compostos Benzidrílicos , Glucosídeos , Insuficiência Cardíaca/tratamento farmacológico , Humanos , Masculino , Peptídeo Natriurético Encefálico , Oxigênio/uso terapêutico , Fragmentos de Peptídeos , Volume Sistólico/fisiologia , Função Ventricular Esquerda
5.
Int J Oral Maxillofac Surg ; 51(1): 38-43, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33865659

RESUMO

The deep circumflex iliac artery perforator flap with iliac crest (DCIAPF) is considered a favourable single-flap option for oromandibular reconstruction. The aim of this study was to evaluate the effectiveness of venous superdrainage using the superficial circumflex iliac vein (SCIV) in the DCIAPF for oromandibular reconstruction. The data of 22 patients (12 female, 10 male) aged 10-76 years (median 53 years) who underwent simultaneous oromandibular reconstruction with a DCIAPF were reviewed retrospectively. Eleven patients received the DCIAPF with SCIV for superdrainage (group A) and another 11 patients received the conventional single-pedicled DCIAPF flap (group B). No flap loss occurred in either group. Venous congestion due to relative venous insufficiency was significantly more frequent in group B (P=0.045). There was no significant difference in the incidence of partial flap necrosis and wound dehiscence, or in the total operation time between the two groups. Superdrainage using the SCIV has the potential to reduce the incidence of venous congestion due to relative venous insufficiency in DCIAPF used for oromandibular reconstruction.


Assuntos
Retalho Perfurante , Procedimentos de Cirurgia Plástica , Feminino , Humanos , Artéria Ilíaca/cirurgia , Veia Ilíaca , Ílio , Masculino , Estudos Retrospectivos
6.
Lasers Med Sci ; 37(4): 2165-2178, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34845565

RESUMO

Based on the well-known principle of selective photothermolysis, laser has been a promising way for the treatment of port wine stains (PWSs). The laser wavelengths used for PWS's clinical treatment include but are not limited to pulsed dye laser (PDL) in 585-600 nm, long-pulse 755-nm alexandrite, and 1064-nm Nd:YAG lasers. The objective of this study was to investigate the optimal wavelength for PWS's laser treatment. A two-scale mathematic model was constructed to simultaneously quantify macroscale laser energy attenuation in two-layered bulk skin and microscale local energy absorption on target blood vessels within Krogh unit. The effects of morphological parameters, including epidermal melanin content, epidermal thickness, dermal blood content, blood vessel depth, and diameter on laser energy deposition within target blood vessels, were investigated from the visible to near-infrared bands (500-1100 nm). The energy deposition ratio of target blood vessel to epidermal surface was proposed to determine the optimal laser wavelength for PWS with different skin morphological parameters. The bioheat transfer modeling and animal experiment are also conducted to prove our wavelength optimization. The optimal wavelengths for lightly pigmented skin with small and shallow target blood vessels are 580-610 nm in the visible band. This wavelength coincides with commercially used PDL. The optimal wavelength shifts to 940 nm as the epidermal pigmentation increases or the size and blood vessel depth increases. The optimal wavelength changes to 1005 nm as the epidermal pigmentation or the size and burying depth of target blood vessel further increases. Nine hundred forty nanometers can be selected as a general wavelength in PWS treatment to meet the need in most widely morphological structure. Lasers with wavelengths in the 580-610, 940, and 1005 nm regions are effective for treating PWS because of their high optical selectivity in blood over the epidermis.


Assuntos
Terapia a Laser , Lasers de Corante , Lasers de Estado Sólido , Transtornos da Pigmentação , Mancha Vinho do Porto , Animais , Epiderme , Lasers de Corante/uso terapêutico , Lasers de Estado Sólido/uso terapêutico , Mancha Vinho do Porto/radioterapia , Mancha Vinho do Porto/cirurgia , Pele
8.
Beijing Da Xue Xue Bao Yi Xue Ban ; 53(5): 883-890, 2021 Oct 18.
Artigo em Chinês | MEDLINE | ID: mdl-34650289

RESUMO

OBJECTIVE: To evaluate the effects of two different femoral cortical suspension devices (fixation loop and adjustable loop) on tunnel widening and knee function in patients following anterior cruciate ligament reconstruction for 12 months. METHODS: A total of 60 patients who had undergone anterior cruciate ligament reconstruction were included in this study. According to the length of the loop(n)[n= total length of loop-(total length of femoral tunnel-total length of coarse tunnel)] in the rough bone tunnel, the patients were divided into A (adjustable loop was 0 mm in the coarse bone tunnel), B (fixation loop was greater than 0 mm and less than or equal to 10 mm in the coarse bone tunnel) and C (fixation loop was greater than 10 mm in the coarse bone tunnel) groups, of which 11 cases were in group A, 27 cases in group B and 22 cases in group C. In the three-dimensional reconstruction of the knee joint with multi-slice spiral CT, the widening of the bone tunnel in the three groups was compared. At the same time, IKDC, Lysholm and Tegner scores of the patients in the three groups were compared. RESULTS: There were differences in the widening degree of the femoral canal among groups A, B and C, and the median difference of the widening degree of the femoral tunnel 12 months and immediately after the surgery was A < B < C. The difference of femoral canal widening in group A was significantly different from that in groups B and C (P < 0.05).According to the linear regression the relationship between the difference of the width of the femoral canal and the change of the length (n) of the loop in the coarse canal, it was found that there was a linear relationship between the value of n and the difference of the width of the bone canal. With the increase of the value of n, the difference of the width of the bone canal gradually became larger. The median difference of the width of the middle and superior tunnel was negative, while the median difference of the width of the middle and inferior tunnel was positive. During the follow-up, we found that there were no statistical differences in IKDC, Lysholm and Tegner scores among the three groups one year after surgery (P > 0.05). CONCLUSION: Twelve months after surgery, compared with group B (fixed loop group) and group C (fixed loop group), group A (adjustable loop group) had less bone tunnel widening.In groups A, B and C, as the length of the loop in coarse bone tunnel gradually increased, the width of bone tunnel became more significant. At the end of 12 months follow-up after anterior cruciate ligament reconstruction, the medial and inferior femoral tunnel was significantly wider than immediately after surgery, and the medial and superior femoral tunnel had gradually begun to undergo tendon-bone healing. There was no significant difference in knee function scores among groups A, B, and C in the follow-up 12 months after surgery.


Assuntos
Lesões do Ligamento Cruzado Anterior , Reconstrução do Ligamento Cruzado Anterior , Lesões do Ligamento Cruzado Anterior/cirurgia , Fêmur/cirurgia , Humanos , Articulação do Joelho/diagnóstico por imagem , Articulação do Joelho/cirurgia , Tendões , Resultado do Tratamento
9.
Eur Rev Med Pharmacol Sci ; 25(16): 5072, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34486680

RESUMO

The article "Ceramide accumulation accelerates nucleus pulposus cells degradation by p38MAPK activation, by W.-J. Wu, J. Wang, J. Liang, Q. Zhou, Y. Liang, published in Eur Rev Med Pharmacol Sci 2020; 24 (19): 9787-9796-DOI: 10.26355/eurrev_202010_23187-PMID: 33090381" has been withdrawn from the authors due to inaccuracies (there are some errors and incorrect data). The Publisher apologizes for any inconvenience this may cause. https://www.europeanreview.org/article/23187.

10.
Animal ; 15(9): 100341, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34425484

RESUMO

Intramuscular fat content (IFC) is an essential quantitative trait of meat, affecting multiple meat quality indicators. A certain amount of IFC could not only improve the sensory score of pork but also increase the flavour, tenderness, juiciness and shelf-life. To dissect the genetic determinants of IFC, two methods, including genome-wide efficient mixed-model analysis (GEMMA) and linkage disequilibrium adjusted kinships (LDAKs), were used to carry out genome-wide association studies for IFC in Suhuai pig population. A total of 14 and 18 significant single nucleotide polymorphisms (SNPs) were identified by GEMMA and LDAK, respectively. The results of these two methods were highly consistent and all 14 significant SNPs in GEMMA were detected by LDAK. Seven of the 18 SNPs reached the genome-wide significance level (P < 9.85E-07) while 11 cases reached the suggestive significance level (P < 1.77E-05). These significant SNPs were mainly distributed on Sus scrofa chromosome (SSC) 5, 3, and 7. Moreover, one locus resides in a 2.27 Mb (71.37-73.64 Mb) region on SSC5 harbouring 13 significant SNPs associated with IFC, and the lead SNP (rs81302978) also locates in this region. Linkage disequilibrium (LD) analysis showed that there were four pairs of complete LD (r2 = 1) among these 13 SNPs, and the remaining 9 SNPs with incomplete LD (r2 ≠ 1) were selected for subsequent analyses of IFC. Association analyses showed that 7 out of 9 SNPs were significantly associated with IFC (P < 0.05) in 330 Suhuai pigs, and the other 2 SNPs tended to reach a significant association level with IFC (P < 0.1). The phenotypic variance explained (PVE) range of these 9 SNPs was 0.92-3.55%. Meanwhile, the lead SNP was also significantly associated (rs81302978) with IFC (P < 0.05) in 378 commercial hybrid pigs (Pietrain × Duroc) × (Landrace × Yorkshire) (PDLY), and the PVE was 1.38%. Besides, two lipid metabolism-relevant candidate genes, the leucine rich repeat kinase 2 (LRRK2) and PDZ domain containing ring finger 4 (PDZRN4) were identified in the 2.27 Mb region on SSC5. In conclusion, our results may provide a set of markers useful for genetic improvement of IFC in pigs and will advance the genome selection process of IFC on pig breeding programmes.


Assuntos
Estudo de Associação Genômica Ampla , Locos de Características Quantitativas , Animais , Cromossomos Humanos Par 5 , Estudo de Associação Genômica Ampla/veterinária , Humanos , Fenótipo , Locos de Características Quantitativas/genética , Sus scrofa/genética , Suínos
11.
Zhonghua Gan Zang Bing Za Zhi ; 29(6): 558-564, 2021 Jun 20.
Artigo em Chinês | MEDLINE | ID: mdl-34225431

RESUMO

Objective: To investigate and analyze the energy metabolism characteristics and the correlation between energy metabolism and the risk of secondary bacterial infection in patients with hepatitis B virus-related chronic liver disease (HBV-CLD). Methods: Data of 183 cases admitted to the Mengchao Hepatobiliary Hospital of Fujian Medical University from November 2017 to November 2020 were retrospectively analyzed. 79 cases of chronic hepatitis B, 51 cases of hepatitis B-related liver cirrhosis, and 53 cases of hepatitis B-related liver failure were collected. Among them patients with liver failure and decompensated liver cirrhosis were defined as severe liver disease group. The Quark RMR indirect calorimetry (COSMED Corporation, Italy) was used to exam the patients' energy metabolism condition, and the incidences of secondary bacterial infection of the patients during hospitalization were recorded. Shapiro-Wilk test and normal QQ plot were used to analyze the normal distribution of continuous variable data, which was consistent with the normal distribution and was described by mean ± standard deviation. In addition, if it did not conform to the normal distribution, the median and interquartile distance were used to describe it. Levene's test was used to test the homogeneity of variance of the data, which was consistent with the normal distribution. The t-test was used to compare the means of the two groups of samples. One-way analysis of variance was used to compare the mean values of the three groups of samples, and then the Tukey's test was used to compare the two groups. If the variance was uneven or did not conform to the normal distribution, the Wilcoxon rank sum test was used to compare the differences between the two groups. Kruskal-Wallis test (H test) was used to compare the differences between the three groups of samples, and then the Dunnett's test (Z test) was used for comparison between the two groups. Categorical variable data were analyzed using chi-square test. Logistic regression analysis was used to screen independent risk factors, and the criteria for variable inclusion (P < 0.05). Results: The respiratory entropy (RQ) and non-protein respiratory entropy (npRQ) of the three groups had statistically significant difference (P < 0.05). Among them, the RQ and npRQ of the chronic hepatitis B group were higher than hepatitis B-related liver cirrhosis group and hepatitis B-related liver failure group. There were statistically significant differences in fat oxidation rate (FAT%) and carbohydrate oxidation rate (CHO%) between the three groups (P < 0.05). Compared with hepatitis B-related liver cirrhosis group and hepatitis B-related liver failure group, chronic hepatitis B group (P < 0.05) had lower FAT% and higher CHO%. There were no statistically significant differences in the measured and predicted resting energy expenditure and protein oxidation rate (PRO%) between the three groups. The incidence of secondary bacterial infection in patients with severe liver disease was 48.39% (45/93). Compared with the non-infected group, the RQ and npRQ values ​​of the infected group were significantly decreased (P < 0.05), while FAT% was significantly increased (P < 0.05). Logistic regression analysis showed that glutamyltransferase, cholesterol, and npRQ were independent risk factors for secondary bacterial infections in patients with severe liver disease. Glutamyltransferase elevation, and cholesterol and npRQ depletion had suggested an increased risk of secondary bacterial infection. Subgroup analysis of patients with hepatitis B-related liver failure also showed that compared with non-infected group, RQ value and npRQ value of secondary bacterial infection group were significantly decreased (P < 0.05), while FAT% was significantly increased (P < 0.05). Conclusion: Patients with hepatitis B virus-related chronic liver disease generally have abnormal energy metabolism. Low RQ, npRQ, CHO% and high FAT% are related to the severity of the disease; while npRQ reduction is related to the risk of secondary bacterial infection in patients with severe liver disease, and thus can be used as a clinical prognostic indicator.


Assuntos
Infecções Bacterianas , Hepatite B Crônica , Metabolismo Energético , Vírus da Hepatite B , Hepatite B Crônica/complicações , Hepatite B Crônica/epidemiologia , Hepatite B Crônica/metabolismo , Humanos , Fígado/metabolismo , Cirrose Hepática/epidemiologia , Cirrose Hepática/metabolismo , Estudos Retrospectivos
12.
Eur Rev Med Pharmacol Sci ; 25(9): 3396, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-34002805

RESUMO

The article "Mocetinostat suppresses epidural fibrosis following laminectomy by inhibiting myofibroblast activation and increasing apoptosis, by W.-J. Wu, J. Wang, J. Liang, Q. Zhou, Y. Liang, published in Eur Rev Med Pharmacol Sci 2020; 24 (8): 4467-4475-DOI: 10.26355/eurrev_202004_21029-PMID: 32373984" has been withdrawn from the authors due to some errors in the data. The Publisher apologizes for any inconvenience this may cause. https://www.europeanreview.org/article/21029.

13.
Zhonghua Er Ke Za Zhi ; 59(2): 119-124, 2021 Feb 02.
Artigo em Chinês | MEDLINE | ID: mdl-33548958

RESUMO

Objective: To explore the phenotypes and genotypes of molybdenum cofactor deficiency type B (MoCD-B) manifested as Leigh-like syndrome. Methods: The clinical data, laboratory tests, neuroimaging and gene results of one patient diagnosed as MoCD-B at Beijing Children's Hospital and Hebei Children's Hospital in December 2018 were collected. Related literature was searched and reviewed at Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure and PubMed (up to September 2020) by using terms "MOCS2" "molybdenum cofactor deficiency" "Leigh-like syndrome,MOCS2" "molybdenum cofactor deficiency, Leigh-like syndrome". The phenotypes and genotypes of MoCD-B were summarized. Results: A 7 months and 14 days old boy with the chief complaint of "cough for 6 days, abnormal posture for 4 days and fever for 2 days" was admitted to Hebei Children' Hospital on December 2018. His abnormal posture presented as opisthotonos accompanied with dysphagia, without seizures. His previous psychomotor development was described as normal. He was born at term after an uneventful pregnancy to non-consanguineous parents. Blood test showed a slightly increased lactic acid and a significantly decreased uric acid. Urine metabolism test showed an obviously increased xanthine and hypoxanthine. Brain magnetic resonance imaging showed hyperintense signal on T2 weighted image and fluid attenuated inversion recovery in bilateral globus pallidus and pedunculus cerebri. The patient was diagnosed with Leigh-like syndrome. No obvious improvement was achieved after cocktail therapy and symptomatic treatment. The whole exome sequencing showed that the patient carried a homozygous variant of MOCS2 gene, c.19G>T(p.Val7Phe), which was a previously reported pathogenic site in the literature and could cause MoCD-B. His parents carried a heterozygous variant respectively. A total of 41 MoCD-B cases with MOCS2 gene variants were collected through literature review and our study, among which 30 cases had full medical records. The onset ages of 23 (77%) cases were in neonate, manifesting with severe encephalopathy, including neonatal-onset intractable seizures, developmental delay, laboratory abnormalities included very low levels of serum and urinary uric acid, increased urinary levels of xanthine and hypoxanthine. Cranial imaging showed cerebral atrophy, cystic encephalomalacia, etc. The onset ages of 7 patients varied from 5 months to 23 years. Four cases had normal psychomotor development before disease onset. Neurological disorders appeared acutely or exacerbated after external triggers and all of them had basal ganglia involvement. Among the 30 cases, 3 cases had a relatively milder phenotype with the ability of brief communication and walking without or with support. Conclusions: Molybdenum cofactor deficiency is a rare disease. Most cases had severe phenotypes and poor outcomes, but some cases may have mild phenotype. MoCD-B caused by MOCS2 gene variants may manifest as Leigh-like syndrome with a normal psychomotor development before the trigger of infection strike. Hypouricemia, xanthinuria and hypoxanthinuria can be indicators of the disease. The presence of MOCS2 gene variants would confirm a final diagnosis.


Assuntos
Erros Inatos do Metabolismo dos Metais , Criança , Pré-Escolar , China , Homozigoto , Humanos , Lactente , Recém-Nascido , Masculino , Erros Inatos do Metabolismo dos Metais/diagnóstico , Erros Inatos do Metabolismo dos Metais/genética , Fenótipo
15.
Int J Oral Maxillofac Surg ; 50(8): 1023-1026, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33293149

RESUMO

Adamantinoma is an extremely rare tumour originating from bone that can be divided into classical and osteofibrous dysplasia (OFD)-like adamantinoma. This low-grade malignancy almost exclusively occurs in long bones, and only few cases of mandibular adamantinoma have been reported. Here, we report the case of a 30-year-old female with a 2-year history of right mandible tenderness. Radiological examinations showed a lytic lesion involving the right mandible without a well-defined margin. Biopsy confirmed the diagnosis of adamantinoma. She underwent a segmental mandibulectomy and reconstruction with a fibula flap. The definitive diagnosis was OFD-like adamantinoma. However, the tumour recurred after 5 years. The residual mandible and fibula flap were widely involved. A total mandibulectomy was performed. Five years later, there is no evidence of recurrence or metastasis. We recommend that adamantinoma be treated by radical resection with clear margins, and long-term surveillance is necessary due to the likely high local recurrence rate and the potential for late tumour metastasis.


Assuntos
Adamantinoma , Doenças do Desenvolvimento Ósseo , Neoplasias Ósseas , Adamantinoma/diagnóstico por imagem , Adamantinoma/cirurgia , Adulto , Feminino , Humanos , Mandíbula , Recidiva Local de Neoplasia/diagnóstico por imagem , Recidiva Local de Neoplasia/cirurgia , Radiografia , Tíbia
16.
Eur J Neurol ; 28(2): 430-437, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-32969141

RESUMO

BACKGROUND AND PURPOSE: The pharmacologic effects of pioglitazone on the incidence of Parkinson disease (PD) are not clear. No study has examined the interaction between pioglitazone and statin treatment on prevention of PD. This study analyzed the associations between pioglitazone, statins, and the incidence of PD in patients with diabetes mellitus (DM) in Taiwan. METHODS: We used the National Health Insurance database from 1996 to 2013. DM and PD were diagnosed according to the International Classification of Diseases, Ninth Revision, Clinical Modification codes. We used the propensity score-matching method to match the study groups. Cox regression analyses were employed to calculate the relative risk of the incidence of PD. RESULTS: There were 48 828 patients matched and categorized equally into the pioglitazone group and the non-pioglitazone group. The number of PD patients in the pioglitazone group and the non-pioglitazone group was 275 (1.1%) and 417 (1.7%), respectively. The pioglitazone group had a lower incidence of PD, with an adjusted hazard ratio (aHR) of 0.66 [95% confidence interval (CI): 0.57-0.78], and this benefit was dose-dependent. Of note, as compared with either pioglitazone or statin treatment, our results first showed that the combination of pioglitazone and statins further lowered the risk of PD, with an aHR of 0.78 (95% CI: 0.64-0.94; P = 0.010). CONCLUSIONS: Our study results suggested that pioglitazone could be a promising agent for reducing the incidence of PD in patients with DM, and works synergistically with statins.


Assuntos
Diabetes Mellitus , Inibidores de Hidroximetilglutaril-CoA Redutases , Doença de Parkinson , Diabetes Mellitus/tratamento farmacológico , Diabetes Mellitus/epidemiologia , Humanos , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Incidência , Doença de Parkinson/complicações , Doença de Parkinson/tratamento farmacológico , Doença de Parkinson/epidemiologia , Pioglitazona/uso terapêutico , Estudos Retrospectivos , Fatores de Risco , Taiwan/epidemiologia
17.
Zhonghua Liu Xing Bing Xue Za Zhi ; 41(12): 2020-2023, 2020 Dec 10.
Artigo em Chinês | MEDLINE | ID: mdl-33378812

RESUMO

Objective: To understand the identification and medical observation of close contacts of COVID-19 cases in a city and provide scientific basis for the adjustment of the epidemic prevention and control strategies. Methods: Descriptive epidemiological methods were used to analyze the general characteristics of all the close contacts of COVID-19 cases in a city. Throat swabs were collected from the close contacts for real-time fluorescent RT-PCR. The confirmed cases were diagnosed according to diagnosis and treatment of COVID-19 (trial version 5). Results: Among the 1 665 close contacts of COVID-19 cases in a city, 10 were diagnosed as COVID-19 cases during the medical observation period, accounting for 30.30% of all the confirmed cases in a city, most of them were close relatives of the confirmed cases. The longest contact time with the confirmed cases was 8 days and the shortest was 0 days. Ten COVID-19 cases in close contacts constituted to six family clusters. Conclusions: In COVID-19 prevention and control in a city, the active tracking of the transmission chains of the confirmed cases and timely identification of the close contacts were conducted. The people who had close contacts with the confirmed COVID-19 cases within 14 days before onset were all placed under medical observation, which played a key role in the effective prevention and control of COVID-19 epidemic in a city. Nearly one third of COVID-19 cases occurred during the medical observation period, so the infection sources were effectively controlled and transmission routes were effectively blocked, which greatly facilitated the prevention of the clusters of COVID-19 cases.


Assuntos
COVID-19/epidemiologia , Busca de Comunicante , Epidemias , COVID-19/diagnóstico , China/epidemiologia , Cidades , Humanos , Reação em Cadeia da Polimerase em Tempo Real
18.
Zhonghua Liu Xing Bing Xue Za Zhi ; 41(9): 1471-1476, 2020 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-33076601

RESUMO

Objective: To accurately estimate the health burden and corresponding economic loss attributed to PM(2.5) pollution in the Beijing-Tianjin-Hebei (BTH) area in China in 2015. Method: By using satellite-retrieved PM(2.5) concentration data and population data provided by NASA (the spatial resolution was 1 km×1 km), this study estimated excess mortality attributed to long-term PM(2).5 exposure in BTH area in 2015 based on Global Exposure Mortality Model (GEMM). Besides, Value of Statistic Life (VSL) method was used to evaluate the corresponding health economic loss. Result: In BTH area, the population-weighted average PM(2.5) concentration during 2012-2014 was 46.25 µg/m(3), and 56.6% of total population lived in the area where annual average PM(2.5) concentration exceeded Grade Ⅱ of National Ambient Air Quality Standard in China (35 µg/m(3)); The PM(2.5)-related premature deaths amounted to 193.8 thousand (95%CI: 140.9 thousand-233.3 thousand), Beijing, Tianjin, Baoding, Shijiazhuang, and Handan were the top five cities with high incidences of PM(2.5)-related premature deaths; The corresponding health economic loss was about 35.934 billion (95%CI: 26.099 billion - 43.255 billion) RMB, accounting for 0.70% (95%CI: 0.51%-0.85%) of the area's GDP in 2015, Beijing, Tianjin, Baoding, Shijiazhuang, and Cangzhou were the top five cities with high health economic loss. Conclusions: PM(2.5) pollution has caused severe disease and economic burden in BTH area. Its spatial distribution suggested that it is particularly necessary to develop the air pollution prevention and control policies for key cities.


Assuntos
Efeitos Psicossociais da Doença , Exposição Ambiental , Mortalidade , Material Particulado , Pequim/epidemiologia , China/epidemiologia , Cidades/epidemiologia , Exposição Ambiental/efeitos adversos , Exposição Ambiental/estatística & dados numéricos , Humanos , Material Particulado/efeitos adversos , Fatores de Tempo
19.
Eur Rev Med Pharmacol Sci ; 24(19): 9787-9796, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-33090381

RESUMO

OBJECTIVE: Ceramide is a lipid molecule that regulates life activities such as cell differentiation, proliferation, apoptosis, and aging. However, whether ceramide plays a role in the intervertebral disc degeneration (IDD) is not clear. The aim of this study is to explore the effect of ceramide during the nucleus pulposus (NP) cells degeneration. PATIENTS AND METHODS: We used human NP cells and passaged them until the fourth generation to analyze the content of ceramide. Cell-permeable C6-ceramide was used to upregulate ceramide expression, and myriocin was used to inhibit the accumulation of ceramide. To understand the relation between p38MAPK and ceramide, SB203580 was used to inhibit the activation of p38MAPK. We tested the viability of NP cells by the detection of collagen II and p16 expression, the proliferation, and the apoptosis of NP cells. RESULTS: Ceramide content was increased in NP cells from passage 1 (P1) to P4. The upregulation of ceramide accelerated the P1 NP cell degeneration by the reduction of collagen II production and proliferative cells population, increased p16 expression, and apoptotic cells population. However, the suppression of ceramide delayed the degeneration of P4 NP cells in the previous aspects. The accumulation of ceramide activated the phosphorylation of p38MAPK, and the inhibition of p38MAPK activation also alleviated the C6-ceramide-induced NP cell degeneration. CONCLUSIONS: Ceramide accumulates during NP cell degradation, and the upregulated ceramide contributes to the NP cells degeneration by p38MAPK activation.


Assuntos
Ceramidas/metabolismo , Núcleo Pulposo/metabolismo , Proteínas Quinases p38 Ativadas por Mitógeno/metabolismo , Humanos , Núcleo Pulposo/patologia
20.
Beijing Da Xue Xue Bao Yi Xue Ban ; 52(5): 919-923, 2020 Oct 18.
Artigo em Chinês | MEDLINE | ID: mdl-33047730

RESUMO

OBJECTIVE: To investigate the clinical application and efficacy of 125Ⅰ radioactive seeds implantation in the treatment of recurrent salivary gland carcinoma after external radiotherapy. METHODS: From July 2004 to July 2016, 43 cases of recurrent salivary gland carcinoma of the neck after external radiotherapy or surgery combined with external radiotherapy were treated. According to the conventional segmentation radiotherapy for head and neck cancer (once a day, 1.8-2.0 Gy each time, 5 days per week), the cumulative radiation dose of the patients in this group was calculated. In the study, 26 patients received 50-60 Gy, 7 patients received less than 50 Gy, 4 patients received 60-70 Gy, and 6 patients received more than 80 Gy (range: 80-120 Gy). The interval between the last external irradiation and local recurrence was 4-204 months, and the median interval was 48 months. Among them, 25 cases were treated with 125Ⅰ radioactive seeds implantation only and 18 cases were treated with 125Ⅰ radioactive seeds implantation after operation. The prescription dose was 100-140 Gy. The control rate, survival rate and disease-free survival rate were recorded to evaluate the side effects. RESULTS: The median follow-up time was 27 months (ranging from 2.5 to 149.0 months). Among them, the median follow-up time of adenoid cystic carcinoma patients was 31 months (range: 2.5-112.0 months), and the median follow-up time of mucoepidermoid carcinoma patients was 18 months (range: 5-149 months). The local control rates for 1, 3 and 5 years were 66.5%, 48.8% and 42.7%, respectively. The 1-, 3- and 5- year survival rates were 88.0%, 56.7% and 45.8%, respectively. The disease-free survival rates of 1, 3 and 5 years were 58.3%, 45.4% and 38.1%, respectively. There was no statistically significant difference in local control rate, survival rate, and disease-free survival between the radioactive seeds implantation group and the radioactive seeds implantation group after surgical resection. There were 2 cases of acute radiation reaction Ⅰ/Ⅱ and 3 cases of reaction Ⅲ or above. In the late stage of radiotherapy, there were 8 cases with Ⅰ/Ⅱ grade reaction and 3 cases with Ⅲ grade or above reaction. The incidence of radiation reactions of Grade Ⅲ and above was 7%. CONCLUSION: 125Ⅰ radioactive seeds implantation provides an alternative method for the treatment of recurrent salivary gland carcinoma after external radiotherapy. The local control rate and survival rate are improved on the premise of low incidence of side effects.


Assuntos
Braquiterapia , Neoplasias das Glândulas Salivares , Braquiterapia/efeitos adversos , Humanos , Radioisótopos do Iodo/uso terapêutico , Recidiva Local de Neoplasia/radioterapia , Neoplasias das Glândulas Salivares/radioterapia , Glândulas Salivares
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