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1.
Nature ; 2024 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-38750363

RESUMEN

The baobab trees (genus Adansonia) have attracted tremendous attention because of their striking shape and distinctive relationships with fauna1. These spectacular trees have also influenced human culture, inspiring innumerable arts, folklore and traditions. Here we sequenced genomes of all eight extant baobab species and argue that Madagascar should be considered the centre of origin for the extant lineages, a key issue in their evolutionary history2,3. Integrated genomic and ecological analyses revealed the reticulate evolution of baobabs, which eventually led to the species diversity seen today. Past population dynamics of Malagasy baobabs may have been influenced by both interspecific competition and the geological history of the island, especially changes in local sea levels. We propose that further attention should be paid to the conservation status of Malagasy baobabs, especially of Adansonia suarezensis and Adansonia grandidieri, and that intensive monitoring of populations of Adansonia za is required, given its propensity for negatively impacting the critically endangered Adansonia perrieri.

2.
World J Gastrointest Oncol ; 16(5): 2060-2073, 2024 May 15.
Artículo en Inglés | MEDLINE | ID: mdl-38764821

RESUMEN

BACKGROUND: Targeting DNA damage response (DDR) pathway is a cutting-edge strategy. It has been reported that Schlafen-11 (SLFN11) contributes to increase chemosensitivity by participating in DDR. However, the detailed mechanism is unclear. AIM: To investigate the role of SLFN11 in DDR and the application of synthetic lethal in esophageal cancer with SLFN11 defects. METHODS: To reach the purpose, eight esophageal squamous carcinoma cell lines, 142 esophageal dysplasia (ED) and 1007 primary esophageal squamous cell carcinoma (ESCC) samples and various techniques were utilized, including methylation-specific polymerase chain reaction, CRISPR/Cas9 technique, Western blot, colony formation assay, and xenograft mouse model. RESULTS: Methylation of SLFN11 was exhibited in 9.15% of (13/142) ED and 25.62% of primary (258/1007) ESCC cases, and its expression was regulated by promoter region methylation. SLFN11 methylation was significantly associated with tumor differentiation and tumor size (both P < 0.05). However, no significant associations were observed between promoter region methylation and age, gender, smoking, alcohol consumption, TNM stage, or lymph node metastasis. Utilizing DNA damaged model induced by low dose cisplatin, SLFN11 was found to activate non-homologous end-joining and ATR/CHK1 signaling pathways, while inhibiting the ATM/CHK2 signaling pathway. Epigenetic silencing of SLFN11 was found to sensitize the ESCC cells to ATM inhibitor (AZD0156), both in vitro and in vivo. CONCLUSION: SLFN11 is frequently methylated in human ESCC. Methylation of SLFN11 is sensitive marker of ATM inhibitor in ESCC.

3.
J Food Prot ; 87(5): 100262, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38484843

RESUMEN

Adding an appropriate amount of copper to feed can promote the growth and development of livestock; however, a large amount of heavy metal copper can accumulate in livestock through the enrichment effect, which poses a serious threat to human health. Traditional Cu2+ detection relies heavily on complex and expensive instruments, such as inductively coupled plasma-optical emission spectrometry (ICP-OES) and inductively coupled plasma-mass spectrometry (ICP-MS); thus, convenient and simple rapid detection technologies are urgently needed. In this paper, synthesized copper antigens were used to immunize mice and highly specific anticopper monoclonal antibodies were obtained, which were verified to exhibit high affinity and specificity. Based on the above antibodies, an indirect competitive enzyme-linked immunosorbent assay (ic-ELISA) was established for the rapid detection of copper content in pork. The standard inhibition curve of the method was obtained by antigen-antibody working concentration screening, in which the half inhibitory concentration (IC50) was 11.888 ng/mL, the limit of detection (LOD) was 0.841 ng/mL and the correlation coefficient R2 of the curve was 0.998. In the additive recovery experiment, the recovery rate ranged from 90% to 110%, and the coefficient of variation (CV) was less than 10%, indicating that the method achieved high accuracy and precision. Finally, the results of ic-ELISA combined with Bland-Altman analysis showed a high correlation with ICP-MS, and the correlation coefficient (R2) reached 0.990 when the copper concentration was less than 200 ng/mL. Thus, the ic-ELISA method exhibits high reliability.


Asunto(s)
Cobre , Ensayo de Inmunoadsorción Enzimática , Productos de la Carne , Ensayo de Inmunoadsorción Enzimática/métodos , Animales , Productos de la Carne/análisis , Ratones , Contaminación de Alimentos/análisis , Humanos , Porcinos
4.
Free Radic Biol Med ; 212: 477-492, 2024 02 20.
Artículo en Inglés | MEDLINE | ID: mdl-38190924

RESUMEN

Forkhead box O3a (FOXO3a)-mediated mitochondrial dysfunction plays a pivotal effect on cardiac hypertrophy and heart failure (HF). However, the role and underlying mechanisms of FOXO3a, regulated by breviscapine (BRE), on mitochondrial function in HF therapy remain unclear. This study reveals that BRE-induced nuclear translocation of FOXO3a facilitates mitofusin-1 (MFN-1)-dependent mitochondrial fusion in cardiac hypertrophy and HF. BRE effectively promotes cardiac function and ameliorates cardiac remodeling in pressure overload-induced mice. In addition, BRE mitigates phenylephrine (PE)-induced cardiac hypertrophy in cardiomyocytes and fibrosis remodeling in fibroblasts by inhibiting ROS production and promoting mitochondrial fusion, respectively. Transcriptomics analysis underscores the close association between the FOXO pathway and the protective effect of BRE against HF, with FOXO3a emerging as a potential target of BRE. BRE potentiates the nuclear translocation of FOXO3a by attenuating its phosphorylation, other than its acetylation in cardiac hypertrophy. Mechanistically, over-expression of FOXO3a significantly inhibits cardiac hypertrophy and mitochondrial injury by promoting MFN-1-mediated mitochondrial fusion. Furthermore, BRE demonstrates its ability to substantially curb cardiac hypertrophy, reduce mitochondrial ROS production, and enhance MFN-1-mediated mitochondrial fusion through a FOXO3a-dependent mechanism. In conclusion, nuclear FOXO3a translocation induced by BRE presents a successful therapeutic avenue for addressing cardiac hypertrophy and HF through promoting MFN-1-dependent mitochondrial fusion.


Asunto(s)
Flavonoides , Insuficiencia Cardíaca , Dinámicas Mitocondriales , Ratones , Animales , Especies Reactivas de Oxígeno/metabolismo , Cardiomegalia/inducido químicamente , Cardiomegalia/tratamiento farmacológico , Cardiomegalia/genética , Miocitos Cardíacos/metabolismo , Insuficiencia Cardíaca/patología
5.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 45(5): 773-782, 2023 Oct.
Artículo en Chino | MEDLINE | ID: mdl-37927019

RESUMEN

Objective To explore the cell subsets and characteristics related to the prognosis of osteosarcoma by analyzing the cellular composition of tumor tissue samples from different osteosarcoma patients.Methods The single-cell sequencing data and bulk sequencing data of different osteosarcoma patients were downloaded.We extracted the information of cell samples for dimensionality reduction,annotation,and cell function analysis,so as to identify the cell subsets and clarify the cell characteristics related to the prognosis of osteosarcoma.The development trajectory of macrophages with prognostic significance was analyzed,and the prognostic model of osteosarcoma was established based on the differentially expressed genes of macrophage differentiation.Results The cellular composition presented heterogeneity in the patients with osteosarcoma.The infiltration of mononuclear phagocytes in osteosarcoma had prognostic significance(P=0.003).Four macrophage subsets were associated with prognosis,and their signature transcription factors included RUNX3(+),ETS1(+),HOXD11(+),ZNF281(+),and PRRX1(+).Prog_Macro2 and Prog_Macro4 were located at the end of the developmental trajectory,and the prognostic ability of macrophage subsets increased with the progression of osteosarcoma.The prognostic model established based on the differentially expressed genes involved in macrophage differentiation can distinguish the survival rate of osteosarcoma patients with different risks(P<0.001).Conclusion Macrophage subsets are closely related to the prognosis of osteosarcoma and can be used as the key target cells for the immunotherapy of osteosarcoma.


Asunto(s)
Neoplasias Óseas , Osteosarcoma , Humanos , Pronóstico , Osteosarcoma/genética , Inmunoterapia , Macrófagos , Factores de Transcripción , Neoplasias Óseas/genética , Proteínas de Homeodominio , Proteínas Represoras
6.
World J Clin Cases ; 11(4): 844-851, 2023 Feb 06.
Artículo en Inglés | MEDLINE | ID: mdl-36818630

RESUMEN

BACKGROUND: Viral pleurisy is a viral infected disease with exudative pleural effusions. It is one of the causes for pleural effusions. Because of the difficult etiology diagnosis, clinically pleural effusions tend to be misdiagnosed as tuberculous pleurisy or idiopathic pleural effusion. Here, we report a case of pleural effusion secondary to viral pleurisy which is driven by infection with epstein-barr virus. Viral infection was identified by metagenomic next-generation sequencing (mNGS). CASE SUMMARY: A 40-year-old male with a history of dermatomyositis, rheumatoid arthritis, and secondary interstitial pneumonia was administered with long-term oral prednisone. He presented with fever and chest pain after exposure to cold, accompanied by generalized sore and weakness, night sweat, occasional cough, and few sputums. The computed tomography scan showed bilateral pleural effusions and atelectasis of the partial right lower lobe was revealed. The pleural fluids were found to be yellow and slightly turbid after pleural catheterization. Thoracoscopy showed fibrous adhesion and auto-pleurodesis. Combining the results in pleural fluid analysis and mNGS, the patient was diagnosed as viral pleuritis. After receiving Aciclovir, the symptoms and signs of the patient were relieved. CONCLUSION: Viral infection should be considered in cases of idiopathic pleural effusion unexplained by routine examination. mNGS is helpful for diagnosis.

7.
Injury ; 54(4): 1113-1118, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36822915

RESUMEN

BACKGROUND: The Charlson Comorbidity Index (CCI) and Comorbidity Polypharmacy Score (CPS) may potentially risk-stratify older trauma patients more accurately than traditional trauma severity scores. We aim to evaluate if CCI or CPS are better predictors of mortality and discharge venue in such patients. METHODS: We conducted a retrospective study using registry data from two tertiary trauma centres. Patients aged 65 years and above who presented to the emergency departments (EDs) between January 2011 and December 2015 with traumatic injuries were included. Charts were reviewed for demographics, injury mechanism and severity, discharge outcomes, and types of comorbidities and medications used. Primary outcome was overall mortality; secondary outcomes included ED disposition and hospital discharge venue. Discriminatory power of the score(s) were compared using area under the receiver operating characteristic (AUROC) curve. RESULTS: There were 2,750 patients, with overall female predominance (56.7%, 1,560/2,750) and median age of 78 years (interquartile range [IQR] 72 to 84 years). Median CCI score was 1 (IQR 0 to 2) and median CPS was 8 (IQR 4 to 12). Overall mortality was 9.4% (259/2,750). Every 1-point increase in CCI score resulted in increased odds of death by 16% (adjusted odds ratio 1.16, 95% confidence interval 1.07 to 1.26, p<0.001). Addition of CCI to the Injury Severity Score (ISS) increased the discriminatory power for mortality (AUROC for ISS = 0.832; AUROC for ISS with CCI = 0.843). Every 1-point increase in CCI was significantly associated with decreased odds of admission to a rehab facility by 8%. CPS did not predict mortality and discharge venue. CONCLUSION: CCI, but not CPS, was a predictor of mortality. A higher CCI was associated with decreased odds of discharge to a subacute facility, likely related to underlying rehabilitation potential. Further studies should be undertaken to explore an integrated scoring system that considers injury severity, comorbidities, and polypharmacy.


Asunto(s)
Servicio de Urgencia en Hospital , Polifarmacia , Humanos , Femenino , Anciano , Anciano de 80 o más Años , Masculino , Estudios Retrospectivos , Centros Traumatológicos , Comorbilidad
8.
Chin J Integr Med ; 29(6): 566-576, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-36044118

RESUMEN

Nodular goiter has become increasingly prevalent in recent years. Clinically, there has been a burgeoning interest in nodular goiter due to the risk of progression to thyroid cancer. This review aims to provide a comprehensive summary of the mechanisms underlying the therapeutic effect of Chinese medicine (CM) in nodular goiter. Articles were systematically retrieved from databases, including PubMed, Web of Science and China National Knowledge Infrastructure. New evidence showed that CM exhibited multi-pathway and multi-target characteristics in the treatment of nodular goiter, involving hypothalamus-pituitary-thyroid axis, oxidative stress, blood rheology, cell proliferation, apoptosis, and autophagy, especially inhibition of cell proliferation and promotion of cell apoptosis, involving multiple signal pathways and a variety of cytokines. This review provides a scientific basis for the therapeutic use of CM against nodular goiter. Nonetheless, future studies are warranted to identify more regulatory genes and pathways to provide new approaches for the treatment of nodular goiter.


Asunto(s)
Bocio Nodular , Neoplasias de la Tiroides , Humanos , Bocio Nodular/tratamiento farmacológico , Bocio Nodular/metabolismo , Medicina Tradicional China , Apoptosis , China
9.
Chinese Journal of Trauma ; (12): 252-258, 2023.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-992595

RESUMEN

Objective:To investigate the efficacy of 3D-printed quantitative bone implants assisting second-stage Masquelet technique for the treatment of long-segment bone defect following Gustilo type IIIB and IIIC tibial fractures.Methods:A retrospective case series analysis was made on 26 patients with long-segment bone defect following Gustilo type IIIB and IIIC tibial fractures treated in Wuxi Ninth People′s Hospital from July 2015 to December 2020, including 20 males and 6 females; aged 19-63 years [(46.5±4.5)years]. Gustilo classification was type IIIB in 23 patients and type IIIC in 3. In the first stage, all patients had thoroughly emergent debridement, removal of all free bone pieces, restoration of the length and force line plus externally fixion, and vacuum sealing drainage (VSD) of the residual wound. After 2-7 days, the external fixation was removed and replaced by internal fixation, with the bone cement filling in the defect area and the free flap covering the wound. The length of tibial bone defect was 5-14 cm [(6.3±0.4)cm], and the tibial defect volume was 12.2-73.1 cm 3 [(33.6±9.2)cm 3]. In the second stage (6-19 weeks after injury), the bone cement was removed, followed by autologous bone grafting. Prior to bone grafting, digital technology was used to accurately calculate the bone defect volume, and an equal volume of bone harvesting area was designe to produce the 3D printed osteotomy template. Bone grafting was conducted after bone removal according to the osteotomy template during operation. The success rate of one-time iliac bone extraction, bone harvesting time, and bleeding volume were recorded. Pain in the bone extraction area was evaluated by visual analogue score (VAS) at 1 day and 1 month after operation and at the last follow-up. Wound healing, complications, and bone healing were observed. Life quality was evaluated by health survey brief form (SF-36) including scores of physical component summary (PCS) and mental component summary (MCS) before bone grafting and at the last follow-up. Results:All the patients were followed up for 13-53 months [(32.3±12.5)months]. One-time iliac bone extraction was successful in all the patients. Bone harvesting time was 15-30 minutes [(21.0±2.5)minutes]. The bleeding volume was 50-120 ml [(62.3±29.0)ml]. The VAS was 1-4 points [(1.2±0.9)points] at 1 day after operation, higher than these (0.0±0.0)points at 1 month after operation and at the last follow-up (all P<0.01). Totally, 25 patients obtained wound healing after operation, except for 1 patient with superficial wound infection after bone grafting that was healed by dressing change. There was 1 patient with bone infection after 3 months of bone grafting that was healed by repeated surgery with Masquelet technique in the first and second stage. Besides, 2 patients had symptoms of cutaneous nerve injury in the iliac donor area. The time of bone healing was 4-7 months [(5.8±0.8)months]. The scores of PCS and MCS in SF-36 at the last follow-up were (73.6±12.8)points and (83.6±13.2)points, significantly higher than those before bone grafting [(46.8±0.5)points, (60.7±2.0)points] (all P<0.01). Conclusion:Second-stage Masquelet technique with 3D printed quantitative bone implants for the treatment of long-segment bone defect following Gustilo type IIIB and IIIC tibial fractures is associated with shortened bone harvesting time, attenuated pain, reduced complications, accelerated bone healing and improved function.

10.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-1008131

RESUMEN

Objective To explore the cell subsets and characteristics related to the prognosis of osteosarcoma by analyzing the cellular composition of tumor tissue samples from different osteosarcoma patients.Methods The single-cell sequencing data and bulk sequencing data of different osteosarcoma patients were downloaded.We extracted the information of cell samples for dimensionality reduction,annotation,and cell function analysis,so as to identify the cell subsets and clarify the cell characteristics related to the prognosis of osteosarcoma.The development trajectory of macrophages with prognostic significance was analyzed,and the prognostic model of osteosarcoma was established based on the differentially expressed genes of macrophage differentiation.Results The cellular composition presented heterogeneity in the patients with osteosarcoma.The infiltration of mononuclear phagocytes in osteosarcoma had prognostic significance(P=0.003).Four macrophage subsets were associated with prognosis,and their signature transcription factors included RUNX3(+),ETS1(+),HOXD11(+),ZNF281(+),and PRRX1(+).Prog_Macro2 and Prog_Macro4 were located at the end of the developmental trajectory,and the prognostic ability of macrophage subsets increased with the progression of osteosarcoma.The prognostic model established based on the differentially expressed genes involved in macrophage differentiation can distinguish the survival rate of osteosarcoma patients with different risks(P<0.001).Conclusion Macrophage subsets are closely related to the prognosis of osteosarcoma and can be used as the key target cells for the immunotherapy of osteosarcoma.


Asunto(s)
Humanos , Pronóstico , Osteosarcoma/genética , Inmunoterapia , Macrófagos , Factores de Transcripción , Neoplasias Óseas/genética , Proteínas de Homeodominio , Proteínas Represoras
11.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-1003157

RESUMEN

BACKGROUND@#Human umbilical cord mesenchymal stem cells (hUCMSCs) have emerged as promising therapy for immune and inflammatory diseases. However, how to maintain the activity and unique properties during cold storage and transportation is one of the key factors affecting the therapeutic efficiency of hUCMSCs. Schisandrin B (SchB) has many functions in cell protection as a natural medicine. In this study, we investigated the protective effects of SchB on the hypothermic preservation of hUCMSCs. @*METHODS@#hUCMSCs were isolated from Wharton’s jelly. Subsequently, hUCMSCs were exposed to cold storage (4 °C) and 24-h re-warming. After that, cells viability, surface markers, immunomodulatory effects, reactive oxygen species (ROS), mitochondrial integrity, apoptosis-related and antioxidant proteins expression level were evaluated. @*RESULTS@#SchB significantly alleviated the cells injury and maintained unique properties such as differentiation potential, level of surface markers and immunomodulatory effects of hUCMSCs. The protective effects of SchB on hUCMSCs after hypothermic storage seemed associated with its inhibition of apoptosis and the anti-oxidative stress effect mediated by nuclear factor erythroid 2–related factor 2 signaling. @*CONCLUSION@#These results demonstrate SchB could be used as an agent for hypothermic preservation of hUCMSCs.

12.
Chinese Journal of Pediatrics ; (12): 1024-1030, 2023.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-1013217

RESUMEN

Objective: To explore the clinical characteristics, common pathogens in children with vulvovaginitis. Methods: This was a retrospective cases study. A total of 3 268 children with vulvovaginitis were enrolled, who visited the Department of Pediatric and Adolescent Gynecology, Children's Hospital, Zhejiang University School of Medicine from January 2009 to December 2019. Patients were divided into 3 groups according to the age of <7, 7-<10 and 10-18 years. Patients were also divided in to 4 groups according to the season of first visit. The pathogen distribution characteristics of infective vulvovaginitis were compared between the groups. Their clinical data were collected and then analyzed by χ2 test. Results: The were 3 268 girls aged (6.2±2.5) years. There were 1 728 cases (52.9%) aged <7 years, 875 cases (26.8%) aged 7-<10 years, and 665 cases (20.3%) aged 10-18 years. Of these cases, 2 253 cases (68.9%) were bacterial vulvovaginitis, 715 cases (21.9%) were fungal vulvovaginitis and 300 cases (9.2%) were vulvovaginitis infected with other pathogens. Bacterial culture of vaginal secretions was performed in 2 287 cases, and 2 287 strains (70.0%) of pathogens were detected, of which the top 5 pathogens were Streptococcus pyogenes (745 strains, 32.6%), Haemophilus influenzae (717 strains, 31.4%), Escherichia coli (292 strains, 12.8%), Staphylococcus aureus (222 strains, 9.7%) and Klebsiella pneumoniae (67 strains, 2.9%). Regarding different age groups, H.influenzae was the most common in children under 7 years of age (40.3%, 509/1 263), S.pyogenes (41.9%, 356/849) was predominantly in children aged 7 to 10 years, and E.coli was predominant in children aged 10 to 18 years (26.3%, 46/175). Susceptibility results showed that S.pyogenes was susceptible to penicillin G (610/610, 100.0%), ceftriaxone (525/525, 100.0%), and vancomycin (610/610, 100.0%); the resistance rates to erythromycin and clindamycin were 91.9% (501/545)and 90.7% (495/546), respectively. For H.influenzae, 32.5% (161/496) produced β-elactamase, and all strains were sensitive to meropenem (489/489, 100.0%) and levofloxacin (388/388, 100.0%), while 40.5% (202/499) were resistant to ampicillin. Among E.coli, all strains were sensitive to imipenem(100%, 175/175). The resistance rates of E.coli to levofloxacin and ceftriaxone were 29.1% (43/148) and 35.1% (59/168), respectively. A total of 48 strains of methicillin-resistant Staphylococcus aureus (MRSA) were isolated with a proportion of 28.3% (45/159) in 3 268 patients. The results of drug susceptibility test showed that all MRSA strains were sensitive to linezolid 100.0% (40/40), vancomycin (45/45, 100.0%), and tigecycline (36/36, 100.0%); the resistance rates of MRSA to penicillin G, erythromycin and clindamycin were 100% (45/45), 95.6% (43/45) and 88.9% (40/45), respectively. All methicillin-sensitive Staphylococcus aureus (MSSA) strains were sensitive to oxacillin (114/114, 100.0%), linezolid (94/94, 100.0%), vancomycin (114/114, 100.0%), and tigecycline (84/84, 100.0%); it's resistance rates to penicillin G, erythromycin and clindamycin were 78.1% (89/114), 59.7% (68/114) and 46.5% (53/114), respectively. The drug resistance rate of MSSA to penicillin G, erythromycin and clindamycin were lower than those of MRSA (χ²=11.71,19.74,23.95, respectively, all P<0.001). Conclusions: The age of consultation for pediatric infectious vulvovaginitis is mainly around 6 years. The most common pathogens are S.pyogenes, H.influenzae and Escherichia coli. Third generation cephalosporins can be used as the first choice of empirical anti-infection drugs. However, the results of drug susceptibility should be considered for targeted treatment.


Asunto(s)
Femenino , Adolescente , Niño , Humanos , Antibacterianos/uso terapéutico , Vancomicina/uso terapéutico , Staphylococcus aureus Resistente a Meticilina , Clindamicina/uso terapéutico , Ceftriaxona/uso terapéutico , Tigeciclina/uso terapéutico , Linezolid/uso terapéutico , Levofloxacino/uso terapéutico , Estudios Retrospectivos , Pruebas de Sensibilidad Microbiana , Staphylococcus aureus , Infecciones Estafilocócicas/tratamiento farmacológico , Eritromicina/uso terapéutico , Meticilina , Penicilina G/uso terapéutico , Escherichia coli , Farmacorresistencia Bacteriana
13.
Chinese Journal of Pediatrics ; (12): 889-895, 2023.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-1013193

RESUMEN

Objective: To analyze the clinical and molecular diagnostic status of Fanconi anemia (FA) in China. Methods: The General situation, clinical manifestations and chromosome breakage test and genetic test results of 107 pediatric FA cases registered in the Chinese Blood and Marrow Transplantation Registry Group (CBMTRG) and the Chinese Children Blood and Marrow Transplantation Registry Group (CCBMTRG) from August 2009 to January 2022 were analyzed retrospectively. Children with FANCA gene variants were divided into mild and severe groups based on the type of variant, and Wilcoxon-test was used to compare the phenotypic differences between groups. Results: Of the 176 registered FA patients, 69 (39.2%) cases were excluded due to lack of definitive genetic diagnosis results, and the remaining 107 children from 15 hospitals were included in the study, including 70 males and 37 females. The age at transplantation treatment were 6 (4, 9) years. The enrolled children were involved in 10 pathogenic genes, including 89 cases of FANCA gene, 7 cases of FANCG gene, 3 cases of FANCB gene, 2 cases of FANCE gene and 1 case each of FANCC, FANCD1, FANCD2, FANCF, FANCJ, and FANCN gene. Compound heterozygous or homozygous of loss-of-function variants account for 69.2% (72/104). Loss-of-function variants account for 79.2% (141/178) in FANCA gene variants, and 20.8% (37/178) were large exon deletions. Fifty-five children (51.4%) had chromosome breakage test records, with a positive rate of 81.8% (45/55). There were 172 congenital malformations in 80 children.Café-au-Lait spots (16.3%, 28/172), thumb deformities (16.3%,28/172), polydactyly (13.9%, 24/172), and short stature (12.2%, 21/172) were the most common congenital malformations in Chinese children with FA. No significant difference was found in the number of congenital malformations between children with severe (50 cases) and mild FANCA variants (26 cases) (Z=-1.33, P=0.185). Conclusions: FANCA gene is the main pathogenic gene in children with FA, where the detection of its exon deletion should be strengthened clinically. There were no phenotypic differences among children with different types of FANCA variants. Chromosome break test is helpful to determine the pathogenicity of variants, but its accuracy needs to be improved.


Asunto(s)
Masculino , Femenino , Humanos , Niño , Anemia de Fanconi/genética , Rotura Cromosómica , Estudios Retrospectivos , Exones , China/epidemiología
14.
Chinese Journal of Pediatrics ; (12): 714-718, 2023.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-1013160

RESUMEN

Objective: To investigate the feature and treatment of atrial tachycardia (AT) originated from right atrial appendage (RAA) in children. Methods: The data of 42 children with AT originated from RAA, who were admitted the First Hospital of Tsinghua University from January 2010 to September 2022 were analyzed retrospectively.The clinical characteristics, treatment and efficacy were analyzed. The children were divided into tachycardia cardiomyopathy group and normal cardiac function group. The differences in the ablation age and the heart rate during AT between two groups were compared by independent sample t-test. Results: Among 42 children, there were 20 males and 22 females. The age of onset was 2.7 (0.6, 5.1) years. Their age at radiofrequency ablation was (6.5±3.6) years, and the weight was (23.4±10.0) kg. Thirty-two children (76%) had sustained AT. The incidence of tachycardia cardiomyopathy was 43% (18/42). Compared to that of the normal cardiac function group, the ablation age and the heart rate at atrial tachycardia of the tachycardia cardiomyopathy group were higher ((8.1±3.8) vs. (5.3±3.1) years, t=-2.63, P=0.012; (173±41) vs. (150±30) beats per minute, t=-2.05, P=0.047. Thirty-eight children (90%) responded poorly to two or more antiarrhythmic drugs. The immediate success rate of radiofrequency ablation (RFCA) was 57% (24/42), and the AT recurrence rate was 17% (4/24). Twenty-two children underwent RAA resection, and their AT were all converted to sinus rhythm after the surgery. During the RAA resection, 10 cases of right atrial appendage aneurysm were found, 9/18 of which failed the RFCA. Conclusions: The AT originated from the RAA in children tend to present with sustained AT, respond poorly to antiarrhythmic drugs, and has a low success rate of RFCA as well as high recurrence rate. Resection of the RAA is a safe and effective complementary treatment.


Asunto(s)
Masculino , Femenino , Humanos , Niño , Apéndice Atrial/cirugía , Antiarrítmicos/uso terapéutico , Estudios Retrospectivos , Ablación por Catéter , Taquicardia/cirugía , Resultado del Tratamiento , Cardiomiopatías
15.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-1010992

RESUMEN

Chronic hepatitis B (CHB) infections caused by the hepatitis B virus (HBV) continue to pose a significant global public health challenge. Currently, the approved treatments for CHB are limited to interferon and nucleos(t)ide analogs, both of which have their limitations, and achieving a complete cure remains an elusive goal. Therefore, the identification of new therapeutic targets and the development of novel antiviral strategies are of utmost importance. Natural products (NPs) constitute a class of substances known for their diverse chemical structures, wide-ranging biological activities, and low toxicity profiles. They have shown promise as potential candidates for combating various diseases, with a substantial number demonstrating anti-HBV properties. This comprehensive review focuses on the current applications of NPs in the fight against HBV and provides a summary of their antiviral mechanisms, considering their impact on the viral life cycle and host hepatocytes. By offering insights into the world of anti-HBV NPs, this review aims to furnish valuable information to support the future development of antiviral drugs.


Asunto(s)
Humanos , Virus de la Hepatitis B , Hepatitis B Crónica/tratamiento farmacológico , Antivirales/uso terapéutico , Productos Biológicos/uso terapéutico , Hepatocitos
16.
Asian Journal of Andrology ; (6): 78-81, 2023.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-970997

RESUMEN

For many years, surgical treatment of buried penis in children has been researched by several scholars, and numerous methods exist. This study aimed to explore the clinical effect of a modified fixation technique in treating buried penis in children. Clinical data of 94 patients with buried penis who were treated using the modified penile fixation technique from March 2017 to February 2019 in Fujian Maternity and Child Health Hospital (Fuzhou, China) were retrospectively collected, compared, and analyzed. Clinical data of 107 patients with buried penis who were treated using traditional penile fixation technique from February 2014 to February 2017 were chosen for comparison. The results showed that at 6 months and 12 months after surgery, the penile lengths in the modified penile fixation group were longer than those in the traditional penile fixation group (both P < 0.05). The incidence of postoperative skin contracture and penile retraction in the modified penile fixation group was less than that in the traditional penile fixation group (P = 0.034 and P = 0.012, respectively). When the two groups were compared in terms of parents' satisfaction scores, the scores for penile size, penile morphology, and voiding status in the modified penile fixation group were higher than those in the traditional penile fixation group at 2-week, 6-month, and 12-month follow-ups after surgery (all P < 0.05). We concluded that the modified penile fixation technique could effectively reduce the incidence of skin contracture and penile retraction and improve the penile length and satisfaction of patients' parents.


Asunto(s)
Femenino , Embarazo , Masculino , Humanos , Niño , Estudios Retrospectivos , Procedimientos Quirúrgicos Urológicos Masculinos/métodos , Pene/cirugía , China , Contractura
17.
Chinese Journal of Surgery ; (12): 688-692, 2023.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-985799

RESUMEN

Objective: To examine the feasibility and technical considerations of thorough debridement using uniportal thoracoscopic surgery for tuberculous empyema complicated by chest wall tuberculosis. Methods: A retrospective analysis was conducted on 38 patients who underwent comprehensive uniportal thoracoscopy debridement for empyema complicated by chest wall tuberculosis in the Department of Thoracic Surgery, Shanghai Pulmonary Hospital, from March 2019 to August 2021. There were 23 males and 15 females, aged (M(IQR)) 30 (25) years (range: 18 to 78 years). The patients were cleared of chest wall tuberculosis under general anesthesia and underwent an incision through the intercostal sinus, followed by the whole fiberboard decortication method. Chest tube drainage was used for pleural cavity disease and negative pressure drainage for chest wall tuberculosis with SB tube, and without muscle flap filling and pressure bandaging. If there was no air leakage, the chest tube was removed first, followed by the removal of the SB tube after 2 to 7 days if there was no obvious residual cavity on the CT scan. The patients were followed up in outpatient clinics and by telephone until October 2022. Results: The operation time was 2.0 (1.5) h (range: 1 to 5 h), and blood loss during the operation was 100 (175) ml (range: 100 to 1 200 ml). The most common postoperative complication was prolonged air leak, with an incidence rate of 81.6% (31/38). The postoperative drainage time of the chest tube was 14 (12) days (range: 2 to 31 days) and the postoperative drainage time of the SB tube was 21 (14) days (range: 4 to 40 days). The follow-up time was 25 (11) months (range: 13 to 42 months). All patients had primary healing of their incisions and there was no tuberculosis recurrence during the follow-up period. Conclusion: Uniportal thoracoscopic thorough debridement combined with postoperative standardized antituberculosis treatment is safe and feasible for the treatment of tuberculous empyema with chest wall tuberculosis, which could achieve a good long-term recovery effect.

18.
Chinese Journal of Epidemiology ; (12): 624-628, 2023.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-985537

RESUMEN

Objective: We analyze the characteristics of Clostridioides difficile (C. difficile) infection among diarrhea patients in Kunming from 2018 to 2020 and provide evidence for follow-up surveillance and prevention. Methods: A total of 388 fecal samples of diarrhea patients from four sentinel hospitals in Yunnan Province from 2018 to 2020 were collected. Real-time quantitative PCR was used to detect the fecal toxin genes of C. difficile. The positive fecal samples isolated the bacteria, and isolates were identified by mass spectrometry. The genomic DNA of the strains was extracted for multi-locus sequence typing (MLST). The fecal toxin, strain isolation, and clinical patient characteristics, including co-infection with other pathogens, were analyzed. Results: Among the 388 fecal samples, 47 samples with positive reference genes of C. difficile were positive, with a total positive rate of 12.11%. There were 4 (8.51%) non-toxigenic and 43 (91.49%) toxigenic ones. A total of 18 strains C. difficile were isolated from 47 positive specimens, and the isolation rate of positive specimens was 38.30%. Among them, 14 strains were positive for tcdA, tcdB, tcdC, tcdR, and tcdE. All 18 strains of C. difficile were negative for binary toxins. The MLST results showed 10 sequence types (ST), including 5 strains of ST37, accounting for 27.78%; 2 strains of ST129, ST3, ST54, and ST2, respectively; and 1 strain of ST35, ST532, ST48, ST27, and ST39, respectively. Fecal toxin gene positive (tcdB+) results were statistically associated with the patient's age group and with or without fever before the visit; positive isolates were only statistically associated with the patient's age group. In addition, some C. difficile patients have co-infection with other diarrhea-related viruses. Conclusions: The infection of C. difficile in diarrhea patients in Kunming is mostly toxigenic strains, and the high diversity of strains was identified using the MLST method. Therefore, the surveillance and prevention of C. difficile should be strengthened.


Asunto(s)
Humanos , Toxinas Bacterianas/genética , Enterotoxinas/genética , Clostridioides difficile/genética , Tipificación de Secuencias Multilocus , Coinfección , Proteínas Bacterianas/genética , China/epidemiología , Infecciones por Clostridium/epidemiología , Diarrea/microbiología
19.
Artículo en Chino | WPRIM (Pacífico Occidental) | ID: wpr-984536

RESUMEN

Type 2 diabetes mellitus (T2DM) can be categorized into “xiao ke (消渴)” in traditional Chinese medicine (TCM). The theory of “yin restricts fire” originates from Inner Canon of Yellow Emperor (《黄帝内经》) which states that “yin essence restricts chief fire”, and the crucial pathogenesis and treatment of xiao ke coincide with this theory. ZHANG Zhongjing,s three prescriptions of Jizizhuang (egg yolk) are Baihe Jizizi Decoction (百合鸡子汤), Huanglian Ejiao Decoction (黄连阿胶汤) and Painong Powder (排脓散), which are scattered in different chapters of Treatise on Cold Damage and Miscellaneous Diseases (《伤寒杂病论》). By analyzing and summarizing the mechanism and characteristics of the three prescriptions, it is found that the three prescriptions are in line with the characteristics of “yin restricts fire” and the pathogenesis of T2DM. These three prescriptions are composed of Jizizhuang and different medicinals. Baihe Jizizi Decoction is composed of Jizizhuang and Baihe (Bulbus Lilii), and can be used to treat T2DM and mental diseases. Huanglian Ejiao Decoction is composed of Jizihuang, Ejiao (Colla Corii Asini), Shaoyao (Radix Paeoniae Alba seu Rubra), Huanglian (Rhizoma Coptidis) and Huangqin (Radix Scutellariae), which could be used to treat T2DM and cardiorenal system diseases. Painong Powder is composed of Jizizhuang, Shaoyao, Jiegeng (Radix Platycodonis) and Zhishi (Fructus Aurantii Immaturus), which can be used to treat T2DM and carbuncle. Therefore, based on the theory of “yin restricts fire” and “many different diseases can be treated in the same wa”, this paper propose that the three Jizihuang prescriptions could be used in T2DM, which could provide ideas for clinical treatment.

20.
Asian Journal of Andrology ; (6): 745-749, 2023.
Artículo en Inglés | WPRIM (Pacífico Occidental) | ID: wpr-1009792

RESUMEN

To compare the impact of the scrotal vs inguinal orchidopexy approach on the testicular function of infants with cryptorchidism, a randomized controlled trial was conducted involving boys who were 6-12 months old at surgery and were diagnosed with clinically palpable, inguinal undescended testis. Between June 2021 and December 2021, these boys at Fujian Maternity and Child Health Hospital (Fuzhou, China) and Fujian Children's Hospital (Fuzhou, China) were enrolled. Block randomization with a 1:1 allocation ratio was employed. The primary outcome was testicular function assessed by testicular volume, serum testosterone, anti-Müllerian hormone (AMH), and inhibin B (InhB) levels. Secondary outcomes included operative time, amount of intraoperative bleeding, and postoperative complications. Among 577 screened patients, 100 (17.3%) were considered eligible and enrolled in the study. Of the 100 children who completed the 1-year follow-up, 50 underwent scrotal orchidopexy and 50 underwent inguinal orchidopexy. The testicular volume, serum testosterone, AMH, and InhB levels in both groups increased markedly after surgery (all P < 0.05), but there were no apparent differences between groups at 6 months and 12 months after operation (all P > 0.05). No differences between the scrotal and inguinal groups were noted regarding the operative time ( P = 0.987) and amount of intraoperative bleeding ( P = 0.746). The overall complication rate (2.0%) of the scrotal group was slightly lower than that of the inguinal group (8.0%), although this difference was not statistically significant ( P > 0.05). Both scrotal and inguinal orchiopexy exerted protective effects on testicular function in children with cryptorchidism, with similar operative status and postoperative complications. Scrotal orchiopexy is an effective alternative to inguinal orchiopexy in children with cryptorchidism.


Asunto(s)
Femenino , Embarazo , Masculino , Lactante , Humanos , Niño , Criptorquidismo/cirugía , Orquidopexia , Escroto/cirugía , Complicaciones Posoperatorias , Hormona Antimülleriana , Testosterona
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