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1.
Chinese journal of integrative medicine ; (12): 99-106, 2024.
Artículo en Inglés | WPRIM | ID: wpr-1010327

RESUMEN

OBJECTIVE@#To assess the risk of aristolochic acid (AA)-associated cancer in patients with AA nephropathy (AAN).@*METHODS@#A retrospective study was conducted on patients diagnosed with AAN at Peking University First Hospital from January 1997 to December 2014. Long-term surveillance and follow-up data were analyzed to investigate the influence of different factors on the prevalence of cancer. The primary endpoint was the incidence of liver cancer, and the secondary endpoint was the incidence of urinary cancer during 1 year after taking AA-containing medication to 2014.@*RESULTS@#A total of 337 patients diagnosed with AAN were included in this study. From the initiation of taking AA to the termination of follow-up, 39 patients were diagnosed with cancer. No cases of liver cancer were observed throughout the entire follow-up period, with urinary cancer being the predominant type (34/39, 87.17%). Logistic regression analysis showed that age, follow-up period, and diabetes were potential risk factors, however, the dosage of the drug was not significantly associated with urinary cancer.@*CONCLUSIONS@#No cases of liver cancer were observed at the end of follow-up. However, a high prevalence of urinary cancer was observed in AAN patients. Establishing a direct causality between AA and HCC is challenging.


Asunto(s)
Humanos , Estudios Retrospectivos , Incidencia , Carcinoma Hepatocelular , Neoplasias Hepáticas/epidemiología , Enfermedades Renales/inducido químicamente , Ácidos Aristolóquicos/efectos adversos
2.
Chinese Journal of Contemporary Pediatrics ; (12): 19-24, 2024.
Artículo en Chino | WPRIM | ID: wpr-1009887

RESUMEN

With the changes in various factors such as genetics and the environment, the incidence of childhood precocious puberty has been gradually increasing. Improving height is one of the key issues in the clinical management of precocious puberty. Currently, gonadotropin-releasing hormone analogs (GnRHa) remain the preferred treatment for precocious puberty, but their effect on height improvement is influenced by multiple factors, which may result in lower-than-expected height benefits. Combining recombinant human growth hormone (rhGH) therapy with GnRHa treatment is an alternative strategy to enhance the efficacy of GnRHa, but there is still no clear recommendation regarding the timing of their combination. Considering the current status of precocious puberty treatment, it is crucial to reevaluate the effects of GnRHa monotherapy and combination therapy with rhGH on height improvement. This article discusses strategies such as combination therapy indications to guide clinical medication and help children with precocious puberty achieve optimal height benefits.


Asunto(s)
Niño , Humanos , Pubertad Precoz/tratamiento farmacológico , Hormona de Crecimiento Humana , Terapia Combinada
3.
Acta Anatomica Sinica ; (6): 55-61, 2024.
Artículo en Chino | WPRIM | ID: wpr-1015142

RESUMEN

Objective To investigate the relationship between nuclear factor(NF)-κB signaling pathway and gender differences in alcoholic liver fibrosis. Methods C57BL/6 N mice at 7-8 weeks of age were randomly divided into: male normal group, male model group, female normal group and female model group of 20 mice each. The normal group was fed with control liquid diet for 8 weeks, and the model group was fed with alcoholic liquid diet for 8 weeks combined with 31.5% ethanol gavage (5g/kg twice a week) to establish an alcoholic liver fibrosis model. The mice were executed at the end of 8 weekends, and the alanine aminotransferase (ALT), aspartate aminotransferase (AST) activity, estradiol (E

4.
JOURNAL OF RARE DISEASES ; (4): 42-49, 2024.
Artículo en Inglés | WPRIM | ID: wpr-1006916

RESUMEN

ObjectiveUsing the liquid chromatography-tandem mass spectrometry (LC-MS/MS) to determine the plasma level of Lyso-GL3 in patients with Fabry disease and to analyze the clinical application of the method.MethodsThirty-nine patients with a genetic diagnosis of Fabry disease were included, and plasma levels of Lyso-GL3 were measured by LC-MS/MS analysis, and detailed clinical information of the patients was obtained including: α-galactosidase A activity, genetic variants, quantification of urine protein, mean arterial pressure, and estimation of glomerular filtration rate, and the differences in the levels of Lyso-GL3 in different clinical phenotypes and genotypes were statistically analyzed, as well as the association with clinical indicators.ResultsLyso-GL3 showed good linearity within 0.7856-400 ng/mL(r=0.9992).Further analysis of 39 Fabry disease patients diagnosed in Ruijin Hospital, Shanghai Jiao Tong University School of Medicine showed a median Lyso-GL3 concentration of 23.6 ng/mL(4.3-92.9 ng/mL); Lyso-GL3 levels were significantly higher in patients with both the frameshift and the splicing mutations, as well as in patients with the nonsense mutations, than in patients with the missense mutations (median value 119.7 ng/mL vs. 11.9 ng/mL, P=0.006, and median value 97.0 ng/mL vs. 11.9 ng/mL, P=0.015, respectively). Whereas, association analysis revealed that Lyso-GL3 was not significantly associated with urinary protein, mean arterial pressure and estimated glomerular filtration rate.ConclusionsThe using of LC-MS/MS to quantify plasma Lyso-GL showed significant differences in Lyso-GL3 concentrations between classical and atypical phenotypes, suggesting that plasma Lyso-GL3 may help with clinical phenotypes. However, Lyso-GL3 levels is found to be overlapped between genotypes. No significant linear correlation was found between Lyso-GL3 and renal clinical indicators, suggesting the urgent need in finding a more accurate tool to assess renal involvement and prognosis in patients with Fabry disease.

5.
Rev. bras. med. esporte ; 29: e2022_0598, 2023. tab
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1423474

RESUMEN

ABSTRACT Introduction: Basketball has the characteristics of physical struggle. This demands from its training and teaching that the participants and coaches work on the qualities of strength, speed, and tactics of the sport. Objective: Study the impacts of abdominal core strengthening on balance and agility in basketball players. Methods: After a literature survey, we used basketball players as experimental volunteers, divided into experimental and control groups, to validate an experimental protocol to strengthen the abdominal core added to routine training. T-run tests and Z-run tests were also performed before and after training. The method of mathematical statistics was used to compare the results in the research-relevant data Results: After training, the two sensitivity test results in the young basketball players were significantly higher than the control group, with significant differences (P<0.05), there was no significant difference in the two sensitive quality indices of the control group athletes before and after training (P>0.05). Conclusion: It was evidenced that abdominal core stability training plays a positive role in improving the balance and agility of young basketball players. Level of evidence II; Therapeutic studies - investigation of treatment outcomes.


RESUMO Introdução: O basquetebol tem as características de embate físico. Isso exige de seu treinamento e ensino que os participantes e treinadores trabalhem as qualidades de força, velocidade e táticas do esporte. Objetivo: Estudar os impactos do fortalecimento do centro abdominal sobre o equilíbrio e agilidade nos jogadores de basquetebol. Métodos: Após um levantamento de dados bibliográficos, utilizou-se jogadores de basquete como voluntários experimentais, divididos em grupo experimental e grupo de controle para validação de um protocolo experimental de fortalecimento do centro abdominal adicionado ao treino de rotina. Testes de corrida T e testes de corrida "Z" também foram realizados antes e depois do treinamento. O método de estatística matemática foi utilizado para comparar os resultados nos dados relevantes à pesquisa Resultados: Após o treinamento, os dois resultados do teste de sensibilidade nos jovens jogadores de basquete foram significativamente superiores aos do grupo controle, com diferenças significativas (P<0,05), não houve diferença significativa nos dois índices de qualidade sensível dos atletas do grupo controle antes e depois do treinamento (P>0,05). Conclusão: Evidenciou-se que o treinamento de estabilidade do centro abdominal desempenha um papel positivo na melhoria do equilíbrio e agilidade sobre os jovens jogadores de basquetebol. Nível de evidência II; Estudos terapêuticos - investigação dos resultados do tratamento.


RESUMEN Introducción: El baloncesto tiene las características del choque físico. Esto exige de su formación y enseñanza que los participantes y entrenadores trabajen las cualidades de fuerza, velocidad y táctica del deporte. Objetivo: Estudiar los impactos del fortalecimiento del núcleo abdominal en el equilibrio y la agilidad en jugadores de baloncesto. Métodos: Tras un estudio de datos bibliográficos, se utilizaron jugadores de baloncesto como voluntarios experimentales, divididos en grupo experimental y grupo de control para la validación de un protocolo experimental de fortalecimiento del núcleo abdominal añadido al entrenamiento rutinario. También se realizaron pruebas de carrera en T y en Z antes y después del entrenamiento. Se utilizó el método de la estadística matemática para comparar los resultados en los datos relevantes de la investigación Resultados: Después del entrenamiento, los resultados de las dos pruebas de sensibilidad en los jóvenes jugadores de baloncesto fueron significativamente superiores a los del grupo de control, con diferencias significativas (P<0,05); no hubo diferencias significativas en los dos índices de calidad sensitiva de los atletas del grupo de control antes y después del entrenamiento (P>0,05). Conclusión: Se demostró que el entrenamiento de la estabilidad del núcleo abdominal desempeña un papel positivo en la mejora del equilibrio y la agilidad de los jóvenes jugadores de baloncesto. Nivel de evidencia II; Estudios terapéuticos - investigación de los resultados del tratamiento.

6.
Chinese Journal of Physical Medicine and Rehabilitation ; (12): 710-714, 2023.
Artículo en Chino | WPRIM | ID: wpr-995236

RESUMEN

Objective:To observe the clinical efficacy of combining electroacupuncture with long needle sacral nerve acupuncture in the treatment of diabetic overactive bladder.Methods:A total of 90 patients with diabetic overactive bladder were randomly divided into an observation group and a control group, each of 45. In addition to the basic treatment for diabetes, the observation group received electroacupuncture combined with long needle sacral nerve acupuncture 5 times a week for 4 weeks, while the control group was given 5mg of oral solinax succinate once a day as a course of treatment. One week before the beginning of the experiment and one week before its end, urination diary cards were used to record the average number of times of daytime and nighttime urination daily, as well as any urgent urination and urinary incontinence during the week. Bladder overactivity syndrome score (OABSS), the bladder overactivity quality of life questionnaire (OAB-q), maximum urine flow rate (Qmax) and mean urine flow rate (Qave) were employed to quantify urination status, life quality and the urodynamics of the 2 groups before and after the treatment.Results:After the treatment, significant improvement was observed in the average weekly incidence of daytime and nighttime urination, of urgent urination and of urinary incontinence. The average OABSS, OAB-q, Qmax and Qave scores improved in both groups, but the experimental group showed significantly better improvement than the control group.Conclusion:Electroacupuncture combined with sacral nerve needling can significantly reduce the frequency of urination, relieve the symptoms of urgent urination and incontinence, and improve the rate of urine flow, improving the life quality of patients with diabetic overactive bladder.

7.
Chinese Journal of Perinatal Medicine ; (12): 546-553, 2023.
Artículo en Chino | WPRIM | ID: wpr-995138

RESUMEN

Objective:To investigate the effects of breast milk to total milk intake ratio during hospitalization on the duration of antibiotic therapy in preterm infants less than 34 weeks of gestation.Methods:Clinical data of preterm infants ( n=1 792) less than 34 gestational weeks were retrospectively collected in 16 hospitals of Jiangsu Province Neonatal-Perinatal Cooperation Network from January 1, 2019, to December 31, 2021. The days of therapy (DOT) were used to evaluate the duration of antibiotic administration. The median DOT was 15.0 d (7.0-27.0 d). The patients were divided into four groups based on the quartiles of DOT: Q 1 (DOT≤7.0 d), Q 2 (7.0 d<DOT≤15.0 d), Q 3 (15.0 d<DOT≤27.0 d) and Q 4 (DOT>27.0 d) groups. According to the breast milk intake ratio (breast milk intake to total milk intake during hospitalization×100%), they were also divided into four groups: very-low-ratio breastfeeding group (breast milk intake ratio≤25%), low-ratio breastfeeding group (25%<breast milk intake ratio≤50%), medium-ratio breastfeeding group (50%<breast milk intake ratio≤75%) and high-ratio breastfeeding group (breast milk intake ratio>75%). Univariate analysis ( Chi-square test and Kruskal-Wallis rank-sum test) was used to analyze the factors influencing DOT. Spearman correlation analysis and trend Chi-square test were used to explore the relationship between breast milk intake ratio and DOT. After using multiple imputations to address missing data, two models were constructed after adjusting for different factors, and multinomial logistic regression model was applied to evaluate the effects of the breast milk intake ratio on DOT. Finally, sensitivity analysis was conducted to assess the stability of the models. Results:(1) Of the 1 792 preterm infants, there were 507 (28.3%) in the Q 1 group, 422 (23.5%) in the Q 2 group, 438 (24.4%) in the Q 3 group and 425 (23.7%) in the Q 4 group. (2) The median values of DOT in the very-low-ratio, low-ratio, medium-ratio and high-ratio breastfeeding groups were 20.0 d (11.0-31.0 d), 20.0 d (11.0-32.0 d), 13.0 d (6.0-25.8 d) and 10.0 d (4.0-21.0 d), respectively. Compared with the very-low-ratio and low-ratio breastfeeding groups, the medium-ratio and high-ratio breastfeeding groups had shorter DOT (all P<0.05). (3) After adjusting for factors with P<0.1 (prenatal glucocorticoid exposure, antimicrobial use within 24 h before delivery, gestational age at delivery, birth weight, Apgar score≤7 at 1 min, neonatal respiratory distress syndrome, infectious pneumonia and early-onset neonatal sepsis) between the DOT quartile groups, it showed that medium-ratio and high-ratio breastfeeding were protective factors in contrast to very-low-ratio breastfeeding in the Q 2, Q 3 and Q 4 groups as compared with the Q 1 group [Q 2 group: OR=0.50 (95% CI: 0.30-0.85) and OR=0.36 (95% CI: 0.26-0.51); Q 3 group: OR=0.31 (95% CI: 0.18-0.55) and OR=0.20 (95% CI: 0.14-0.29); Q 4 group: OR=0.22 (95% CI: 0.12-0.42) and OR=0.17 (95% CI: 0.12-0.26)]. Conclusion:Breast milk intake accounting for over 50% of total milk intake has a positive impact on reducing DOT in premature infants requiring antibiotics, which suggests that breastfeeding should be actively encouraged.

8.
Chinese Journal of Nephrology ; (12): 414-421, 2023.
Artículo en Chino | WPRIM | ID: wpr-994994

RESUMEN

Objective:To investigate the urinary sediment findings and the clinicopathologic features of IgA nephropathy (IgAN) patients with acute kidney injury (AKI).Methods:It was a retrospective study. The patients with renal biopsy-proven primary IgAN in Peking University First Hospital from January 31, 2013 to July 31, 2015 were selected. According to whether AKI occurred at renal biopsy or not, the patients were divided into AKI group and non-AKI group. Morning urine samples were obtained on the day of renal biopsy. Urine sediments, including various cells and casts, were examined. The clinical data, urinary sediments, and renal pathological changes were compared between the two groups. Logistic regression analysis was performed to identify the association between clinical pathological changes, urinary sediment indicators and AKI, or clinical pathological changes and urinary sediment indicators.Results:There were 502 IgAN patients enrolled in this study, with age of (36.1±12.1) years old and 261 males (52.0%). The incidence of AKI was 11.4% (57/502) among the enrolled patients at the time of renal biopsy. Common causes of AKI included gross hematuria-induced AKI (10 cases), acute tubulointerstitial nephritis (10 cases), crescentic IgAN (9 cases), malignant hypertensive renal damage (6 cases), and multiple etioloqy or unknown etiology (22 cases). Compared with non-AKI group, AKI group had higher proportions of males and malignant hypertension, higher levels of proteinuria and urinary erythrocyte counts, and higher frequencies of gross hematuria, leukocyturia, renal tubular epithelial cells, and granular casts (all P<0.05). AKI group also had higher proportions of severe tubular atrophy/interstitial fibrosis (T2) and cellular/cellular fibrous crescent formation (C2) than non-AKI group (both P<0.05). Logistic regression analysis results showed that, there were statistically significant differences in the correlation between AKI and gender, 24 h urinary protein, urinary erythrocyte counts, granular casts and renal tubular atrophy/interstitial fibrosis (T) scores (all P<0.05). Hematuria, leukocyturia, red blood cell casts, white blood cell casts, granular casts, and fatty casts were correlated with endothelial hypercellularity (E) and cellular/cellular fibrous crescent formation (C) scores, respectively (all P<0.05). Hematuria was correlated with mesangial hypercellularity (M) scores ( OR=2.613, 95% CI 1.520-4.493, P=0.001). Hematuria ( OR=1.723, 95% CI 1.017-2.919, P=0.043) and fatty casts ( OR=2.646, 95% CI 1.122-6.238, P=0.026) were correlated with segmental sclerosis or adhesion (S) scores. Leukocyturia ( OR=1.645, 95% CI 1.154-2.347, P=0.006) and fatty casts ( OR=2.344, 95% CI 1.202-4.572, P=0.012) were correlated with T scores. Epithelial cell cast was correlated with C scores ( OR=1.857, 95% CI 1.174-2.939, P=0.008). Conclusions:AKI is a common complication among IgAN patients with diverse etiology and more severe clinicopathological features. Urinary sediment findings can reflect renal pathological changes to some extent, and therefore assist in the clinical diagnosis and treatment of IgAN patients with AKI.

9.
Chinese Journal of Neurology ; (12): 1034-1043, 2023.
Artículo en Chino | WPRIM | ID: wpr-994929

RESUMEN

Objective:To summarize the clinical manifestations, gene variations, diagnosis and treatment of 3 cases with SLC35A2 variations characterized by congenital glycosylation disorder Ⅱm (CDG Ⅱm). Methods:A total of 3 patients admitted to the Department of Pediatrics of Xiangya Hospital of Central South University in China from 2018 to 2020 were examined in detail. The studies till January 2022 were searched with key words of "congenital disorders of glycosylation Ⅱm", " SLC35A2" and "CDG Ⅱm" in both English and Chinese in the databases of China National Knowledge Infrast Ructure (CNKI), Wanfang, Online Mendelian Inheritance in Man and PubMed, and the clinical manifestations, genetic variation, treatments and prognosis of patients with SLC35A2 mutation were summarized. Results:The patients all presented with intractable infantile spasm and global developmental delay, onset in infancy. A variety of antiepileptic treatments had temporary and partial efficacy. Otherwise, proband 2 and 3 presented with abnormal glutamic-pyruvic transaminase and increased platelets. Funduscopy showed dysplasia of the retinal pigment epithelium in both eyes, and they both received D-galactose treatment. A total of 22 relevant case reports, including 99 patients, were collected. The 99 patients all were heterozygous mutations, and a total of 75 different variation sites were reported. The clinical manifestations were characterized by global developmental delay or mental retardation ( n=89), epileptic seizure ( n=75), hypotonia ( n=57), facial deformity ( n=57), skeletal abnormality ( n=50), visual impairment ( n=42), elevated glutamic-pyruvic transaminase ( n=31), gastrointestinal symptoms ( n=28), skin deformity ( n=26), microcephaly ( n=23) and congenital heart disease ( n=12). Craniocerebral magnetic resonance imaging may be normal in the early stage. With age, magnetic resonance imaging may show abnormal white matter signals, brain atrophy, dysplasia of corpus callosum, delayed myelination, enlargement of lateral ventricle, brain stem atrophy and so on. Studies have shown that galactose treatment may be effective. Conclusions:SLC35A2 variants lead to CDG Ⅱm, whose clinical manifestations mainly include epileptic encephalopathy and global developmental delay. Multiple antiepileptic therapies can temporarily or partially control seizures, while oral galactose may improve the clinical symptoms, showing its prospect as a dietary therapy.

10.
Chinese Journal of Neurology ; (12): 909-914, 2023.
Artículo en Chino | WPRIM | ID: wpr-994913

RESUMEN

Objective:To analyze the clinical characteristics of a child with developmental epileptic encephalopathy caused by NR4A2 gene mutation, and to summarize the clinical phenotypes and genotypes to improve the clinician′s understanding of this disease. Methods:The clinical data of a child with developmental epileptic encephalopathy admitted to Linyi People′s Hospital in August 2022 were collected, video electroencephalogram, craniocerebral magnetic resonance imaging and family whole exon sequencing were improved, and the suspected mutation sites were verified by Sanger sequencing. Relevant literature was consulted to summarize the clinical phenotypes and genetic characteristics of nervous system diseases caused by NR4A2 gene. Results:It was found that there was a heterozygous missense mutation at the locus c.866G>A (p.A289H) of NR4A2 gene in the child, which was a de novo mutation, and both parents were wild type. According to the American Society of Medical Genetics and Genomics variation classification, it was assessed as a suspected pathogenic variation. Through literature review, there were 16 related cases reported internationally, with clinical phenotypes including mental retardation/mental retardation, language disorders, seizures, muscle tone changes and different psychological and behavioral problems. Conclusions:The NR4A2 gene is not only associated with dopa responsive disorders, but also with neurological development, intellectual impairment, language development delay, and epilepsy. The mutation of NR42A gene c.866G>A (p.A289H) is the genetic cause of the patient, and the detection of this locus expands the NR4A2 gene spectrum. NR4A2 gene is one of the pathogenic genes of developmental epileptic encephalopathy.

11.
Chinese Journal of Neurology ; (12): 780-786, 2023.
Artículo en Chino | WPRIM | ID: wpr-994894

RESUMEN

Objective:To analyze the clinical phenotype and gene sequencing results of a child with hyperekplexia, and to clarify her genetic etiology.Methods:The clinical information of the child was collected, and the whole exome sequencing of the child and her parents was performed. The suspected pathogenic variants were verified by Sanger sequencing and bioinformatics analysis.Results:There was a 12 years old girl, who was hospitalized in the Department of Pediatric Neurology of Linyi People′s Hospital because of "paroxysmal limb stiffness for more than 11 years and aggravated for half a month" on July 4, 2022. The girl showed exaggerated startle reflexes and generalized siffness in response to external sudden, unexpected stimuli, occasionally accompanied by apnea and cyanosis, frequent attacks occurred several times a day, lasting for 1-30 minutes, and early head and abdomen flexion can be relieved. She showed normal growth and development, no abnormality in brain magnetic resonance imaging and video electroencephalogram during seizure. The whole exome sequencing showed that there was a missense heterozygous mutation c.643T>C(p.W215R) in the SLC6A5 gene of the child. Neither of the parents carried this mutation, which was a novel and de novo variant. According to the guidelines of American College of Medical Genetics and Genomics, this variant was a likely pathogenic variant [PS2: de novo (both maternity and paternity confirmed) in the patient with the disease and no family history; PM2: undetected variants in the normal population; PP3: multiple softwares predicted that this mutation would have harmful effects on genes or gene products], and highly conserved. Swiss modeling found that the hydrogen bond of the modified amino acid also changed. Conclusions:Hyperekplexia is relatively rare and prone to misdiagnosis. The main clinical features are excessive startle reflexes (limb shaking, or jumping) to unexpected external stimuli, resulting in overall stiffness, normal growth and development, and normal video electroencephalogram during the seizure. The likely pathogenic heterozygous missense variant c.643T>C (p.W215R) of SLC6A5 gene is the genetic cause of this case.

12.
Chinese Journal of Neurology ; (12): 374-384, 2023.
Artículo en Chino | WPRIM | ID: wpr-994843

RESUMEN

Objective:To summarize the clinical manifestations, gene variations,and treatment of cases with SPTAN1 gene variations characterized by global developmental delay or epileptic encephalopathy. Methods:Three patients with SPTAN1 gene mutations which caused developmental epileptic encephalopathy type 5 admitted to the Department of Pediatrics, Xiangya Hospital, Central South University from August 2019 to September 2021 were collected. The studies till December 2021 were searched with keywords of " SPTAN1" and "developmental and epileptic encephalopathy 5" in both English and Chinese databases of China National Knowledge Infrastructure, Wanfang, Online Mendelian Inheritance in Man, and PubMed. The clinical manifestations, genetic variations, treatments and prognosis of patients with SPTAN1 gene variations were summarized. Results:All 3 patients presented with global developmental delay, infant onset. Patient 1 showed early-onset epileptic encephalopathies and microcephaly. Patient 2 had an atrial septal defect. Cranial magnetic resonance imaging (MRI) of patient 3 showed cerebellar hypoplasia.Antiepileptic seizure therapy was partially effective, but failed to control the spasm. Development was slightly improved after rehabilitation training and other treatments, but still lagged behind the children of the same age. The SPTAN1 gene mutations of the 3 cases were heterozygous mutations, c.6923_6928dup, c.6619_6621delGAG and c.6749T>C, respectively. c.6749T>C was not reported in the previous literature. Thirteen case reports, including 69 patients, were collected. Sixty-seven patients had heterozygous mutations, inherited in an autosomal dominant fashion, including 35 missense mutations, 12 deletion mutations, 11 repetition mutations, 9 nonsense mutations, and the rest 2 patients had compound heterozygous missense mutations. A total of 38 different variation sites were reported. The phenotypes of 69 patients from the previous studies mainly included intellectual impairment (32/69), seizures (30/69), developmental delay (28/69), progressive microcephaly (27/69), hypotonia (23/69), poor visual attention (15/69), spastic quadriplegia (9/69), and gastrointestinal abnormalities (7/69). The primary type of seizures was epileptic spasm. Cranial MRI abnormalities mainly included cerebellar and brainstem atrophy, corpus callosum dysplasia, myelin dysplasia, and brain atrophy. Previous reports showed that a variety of anti-seizure drugs were effective for epileptic seizures. The prognosis varied greatly. Severe cases could be fatal, and mild cases only manifested as mild mental retardation or movement disorders. Conclusions:SPTAN1 gene mutation leads to developmental epileptic encephalopathy type 5, the phenotypes of which include intellectual impairment, global developmental delay, infantile spasms, and head deformity.Antiepileptic drugs and functional training can improve the symptoms, but the prognosis is still poor. This study expands the SPTAN1 gene variant spectrum, enriches the mutant spectrum of SPTAN1 gene associated with developmental epileptic encephalopathy type 5.

13.
Chinese Journal of Gastrointestinal Surgery ; (12): 701-706, 2023.
Artículo en Chino | WPRIM | ID: wpr-986840

RESUMEN

Although it has become a consensus in the field of colorectal surgery to perform radical tumor treatment and functional protection under the minimally invasive concept, there exist many controversies during clinical practice, including the concept of embryonic development of abdominal organs and membrane anatomy, the principle of membrane anatomy related to right hemicolectomy, D3 resection, and identification of the inner boundary. In this paper, we analyzed recently reported literature with high-level evidence and clinical data from the author's hospital to recognize and review the membrane anatomy-based laparoscopic assisted right hemicolectomy for right colon cancer, emphasizing the importance of priority of surgical dissection planes, vascular orientation, and full understanding of the fascial space, and proposing that the surgical planes should be dissected in the parietal-prerenal fascial space, and the incision should be 1 cm from the descending and horizontal part of the duodenum. The surgery should be performed according to a standard procedure with strict quality control. To identify the resection range of D3 dissection, it is necessary to establish a clinical, imaging, and pathological evaluation model for multiple factors or to apply indocyanine green and nano-carbon lymphatic tracer intraoperatively to guide precise lymph node dissection. We expect more high-level evidence of evidence-based medicine to prove the inner boundary of laparoscopic assisted radical right colectomy and a more rigorous consensus to be established.


Asunto(s)
Humanos , Laparoscopía/métodos , Neoplasias del Colon/patología , Escisión del Ganglio Linfático/métodos , Colectomía/métodos , Disección
14.
Chinese Journal of Industrial Hygiene and Occupational Diseases ; (12): 552-554, 2023.
Artículo en Chino | WPRIM | ID: wpr-986069

RESUMEN

Objective: To investigate the clinical characteristics of patients with acute phosphine poisoning, and to follow up and evaluate the prognosis of patients. Methods: In May 2022, 12 patients with phosphine poisoning by respiratory inhalation in Beijing Chao-Yang Hospital of Capital Medical University were analyzed. The patients were treated with symptomatic support therapy. Three months later, patients were re-evaluated the symptoms of poisoning, pulmonary function and magnetic resonance imaging (MRI) of the brain to understand the prognosis of the phosphine poisoning. Results: The main symptoms of 12 patients were respiratory and central nervous system symptoms with hypoxia. The symptoms of poisoning improved after treatment. Follow-up found that the patients had different degrees of residual symptoms. Pulmonary function showed increased airway resistance. Airway challenge test was positive in some patients. MRI of the head of some patients showed small ischemic focus in bilateral frontal lobes. Conclusion: Acute phosphine poisoning may cause persistent damage to the respiratory system and central system, and residual symptoms after 3 months.


Asunto(s)
Humanos , Estudios de Seguimiento , Fosfinas , Pulmón , Enfermedades Pulmonares , Compuestos de Aluminio , Intoxicación/diagnóstico
15.
Acta Pharmaceutica Sinica B ; (6): 344-358, 2023.
Artículo en Inglés | WPRIM | ID: wpr-971699

RESUMEN

Growth hormone deficiency (GHD) has become a serious healthcare burden, and presents a huge impact on the physical and mental health of patients. Here, we developed an actively separated microneedle patch (PAA/NaHCO3-Silk MN) based on silk protein for sustained release of recombinant human growth hormone (rhGH). Silk protein, as a friendly carrier material for proteins, could be constructed in mild full-water conditions and ensure the activity of rhGH. After manually pressing PAA/NaHCO3-Silk MN patch to skin for 1 min, active separation is achieved by absorbing the interstitial fluid (ISF) to trigger HCO3 ‒ in the active backing layer to produce carbon dioxide gas (CO2). In rats, the MN patch could maintain the sustained release of rhGH for more than 7 days, and produce similar effects as daily subcutaneous (S.C.) injections of rhGH in promoting height and weight with well tolerated. Moreover, the PAA/NaHCO3-Silk MN patch with the potential of painless self-administration, does not require cold chain transportation and storage possess great economic benefits. Overall, the PAA/NaHCO3-Silk MN patch can significantly improve patient compliance and increase the availability of drugs, meet current unmet clinical needs, improve clinical treatment effects of GHD patients.

16.
Journal of Public Health and Preventive Medicine ; (6): 26-30, 2023.
Artículo en Chino | WPRIM | ID: wpr-979154

RESUMEN

Objective To analyze the current situation and trend of genital herpes disease burden in China from 1990 to 2019, and to provide a theoretical basis for the prevention and treatment of genital herpes. Methods Using the 2019 Global Burden of Disease database, the trend of the burden of genital herpes disease in China from 1990 to 2019 was analyzed using the Joinpoint software based on the indicators of incidence, disability-adjusted life years (DALY) and disability-lost life years. The ARIMA time series model was established to predict the development trend of genital herpes diseases in China from 2020 to 2024. Results From 1990 to 2019, the incidence of genital herpes in China had a downward trend. The incidence of the disease was mainly concentrated in the age group of 15-49 years old, and the DALY rate in this age group showed a significant upward trend (AAPC=0.73, P < 0.001). The age group of 50-69 years old showed a significant upward trend (AAPC=0.09, P < 0.05). The DALY rate of genital herpes in China showed an increasing trend from 1990 to 2019. Between 1990 and 2019, the overall disease burden of women in China was higher than that of men. The ARIMA model predicted that the incidence of genital herpes and DALY rate in China would continue to increase from 2020 to 2024. Conclusion The disease burden of genital herpes in China is still on the rise. It is necessary to strengthen the safe sexual behavior education and actively carry out health education among young and middle-aged people.

17.
Journal of Clinical Hepatology ; (12): 1600-1608, 2023.
Artículo en Chino | WPRIM | ID: wpr-978829

RESUMEN

Objective To investigate the value of HALP score in evaluating the prognosis of patients with hepatocellular carcinoma (HCC) after hepatectomy and whether the nomogram based on HALP score could effectively predict the postoperative survival of patients. Methods A retrospective study was performed for the clinical data of 253 HCC patients who underwent surgical treatment in Department of Hepatobiliary Surgery, The Affiliated Hospital of Southwest Medical University, from July 2013 to March 2020. The receiver operating characteristic (ROC) curve was plotted to calculate the optimal cut-off values of HALP score and other related indicators; the chi-square test was used to investigate the association between HALP score and clinicopathological features; the Kaplan-Meier method was used to plot survival curves, and the Log-rank test method was used for comparison. The univariate and multivariate Cox regression analyses were used to investigate the association of HALP score and other clinical parameters with the prognosis of patients. R3.6 was used to establish a nomogram; C-index and calibration curve were used to evaluate the predictive ability of the nomogram, and net reclassification index (NRI) and integrated discrimination improvement (IDI) were used to compare predictive ability between the nomogram model and the conventional model. Results The Kaplan-Meier analysis showed that the high HALP group had significantly better overall survival (OS) and recurrence-free survival (RFS) than the low HALP group ( P < 0.001). The univariate Cox regression analysis showed that white blood cell count, gamma-glutamyl transpeptidase (GGT), alkaline phosphatase (ALP), alpha-fetoprotein (AFP), surgical approach, microvascular invasion, TNM stage, degree of tumor differentiation, HALP, aspartate aminotransferase (AST)/alanine aminotransferase (ALT) ratio, neutrophil-to-lymphocyte ratio (NLR), and monocyte-to-lymphocyte ratio (MLR) were significantly associated with OS (all P < 0.05). The variables with statistical significance in the univariate Cox regression analysis were included in the multivariate Cox regression analysis, and the results showed that ALP, AST/ALT ratio, ALP, AFP, degree of tumor differentiation, and TNM stage were independent influencing factors for OS after surgery in HCC patients (all P < 0.05). The univariate Cox regression analysis showed that GGT, ALP, AFP, microvascular invasion, TNM stage, degree of tumor differentiation, HALP, AST/ALT ratio, NLR, and MLR were significantly associated with RFS (all P < 0.05), and the multivariate Cox regression analysis showed that HALP, AST/ALT ratio, NLR, ALP, AFP, and TNM stage were independent influencing factors for RFS after surgery in HCC patients (all P < 0.05). The nomograms for OS and RFS of HCC patients were established based on the multivariate analysis. The nomogram for OS had a C-index of 0.732 (95% confidence interval [ CI ]: 0.691-0.774) and an area under the ROC curve of 0.795, 0.791, and 0.775, respectively, in predicting 1-, 3-, and 5-year survival rates, and the nomogram for RFS had a C-index of 0.677 (95% CI : 0.637-0.717) and an area under the ROC curve of 0.742, 0.733, and 0.716, respectively, in predicting 1-, 3-, and 5-year survival rates. The calibration curves of 1-, 3-, and 5-year OS were well fitted to those of 1-, 3-, and 5-year RFS. Conclusion A low level of HALP before surgery is a predictive factor for poor long-term prognosis in HCC patients undergoing surgical treatment, and the nomogram model based on HALP score is superior to the BCLC staging model and can better predict the prognosis of HCC.

18.
Acta Pharmaceutica Sinica ; (12): 1566-1576, 2023.
Artículo en Chino | WPRIM | ID: wpr-978715

RESUMEN

Chirality is one of the fundamental properties of nature, and most of the important molecules in living organisms contain chiral structures. The efficacy and safety of drugs are often closely related to the chiral structure of compounds, however, there are relatively more studies on synthetic characterization, pharmacology, and toxicology of chiral small molecule chemical drugs, but relatively less studies on chiral compounds contained in natural drugs such as traditional Chinese medicines. Chiral separation, as the basis of chiral research, has a pivotal position in the study of chiral compounds. In this paper, we systematically describe the separation methods of chiral compounds from the classification of chiral splitting methods based on chromatographic and non-chromatographic methods, as well as chromatographic packing materials, chiral additives and chiral derivatization, and review the chiral compounds in natural drugs such as traditional Chinese medicines reported in the past ten years, in order to provide references for the splitting and evaluating the activity of chiral compounds, and the improvement of quality standards of traditional Chinese medicines.

19.
International Eye Science ; (12): 1384-1389, 2023.
Artículo en Chino | WPRIM | ID: wpr-978639

RESUMEN

AIM: To evaluate the application of single-pass four-throw releasable suture drainage tube ligation technique in Ahmed glaucoma valve(AGV)implantation.METHODS: A total of 78 patients(78 eyes)with refractory glaucoma who underwent AGV implantation in the People's Hospital of Leshan from May 2020 to January 2022 were retrospectively analyzed. According to the treatment, the patients were divided into the modified AGV implantation group, with 43 patients(43 eyes)treated by modified AGV implantation, ligating the drainage tube with single-pass four-throw releasable suture, and the traditional AGV implantation group, with 35 patients(35 eyes)treated by traditional AGV implantation. Followed-up for 6mo, the intraocular pressure(IOP), success rate and complications were observed at 1d, 1 and 2wk and 1 and 6mo after operation.RESULTS: Postoperative IOP at all follow-up visits was significantly lower than that before surgery in both groups(all P&#x003C;0.05). There was no significant difference in IOP between groups at all follow-up visits(all P&#x003E;0.05). The incidence of shallow anterior chamber was 5% in the modified AGV implantation group and 23% in the traditional AGV implantation group at 1wk after surgery(P&#x003C;0.05). At 6mo after operation, the overall success rate was 98% in modified AGV implantation group and 89% in the traditional AGV implantation group(P&#x003E;0.05).CONCLUSION:During AGV implantation, ligation of drainage tube with single-pass four-throw releasable suture can effectively reduce IOP and reduce the incidence of shallow anterior chamber in early postoperative stage. Furthermore, the technique is safe and efficacious.

20.
Journal of Zhejiang University. Science. B ; (12): 442-454, 2023.
Artículo en Inglés | WPRIM | ID: wpr-982384

RESUMEN

CUDC-101, an effective and multi-target inhibitor of epidermal growth factor receptor (EGFR), histone deacetylase (HDAC), and human epidermal growth factor receptor 2 (HER2), has been reported to inhibit many kinds of cancers, such as acute promyelocytic leukemia and non-Hodgkin's lymphoma. However, no studies have yet investigated whether CUDC-101 is effective against myeloma. Herein, we proved that CUDC-101 effectively inhibits the proliferation of multiple myeloma (MM) cell lines and induces cell apoptosis in a time- and dose-dependent manner. Moreover, CUDC-101 markedly blocked the signaling pathway of EGFR/phosphoinositide-3-kinase (PI3K) and HDAC, and regulated the cell cycle G2/M arrest. Moreover, we revealed through in vivo experiment that CUDC-101 is a potent anti-myeloma drug. Bortezomib is one of the important drugs in MM treatment, and we investigated whether CUDC-101 has a synergistic or additive effect with bortezomib. The results showed that this drug combination had a synergistic anti-myeloma effect by inducing G2/M phase blockade. Collectively, our findings revealed that CUDC-101 could act on its own or in conjunction with bortezomib, which provides insights into exploring new strategies for MM treatment.


Asunto(s)
Humanos , Antineoplásicos/uso terapéutico , Apoptosis , Bortezomib/farmacología , Línea Celular Tumoral , Proliferación Celular , Receptores ErbB/antagonistas & inhibidores , Puntos de Control de la Fase G2 del Ciclo Celular , Inhibidores de Histona Desacetilasas/farmacología , Histona Desacetilasas/metabolismo , Células M , Mieloma Múltiple/tratamiento farmacológico
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