RESUMEN
A 48-year-old woman with a high-grade intraepithelial neoplasia of the gastric antrum was referred for ESD treatment.The difficulty of ESD is to expose the submucosa,especially in difficult sites and lesions with severe fibrosis.Adequate submucosal exposure is the most critical technology to reduce complications and improving efficiency.Here we report a novel entire traction method to facilitate safe and efficient ESD.
RESUMEN
A 78-year-old woman with hematochezia underwent a colonoscopy and found a 2 × 2-cm laterally spreading tumor (LST) in the rectum, 3 cm from the anus. Because of the risk related to anus preservation and the potential operative trauma, the patient refused surgery and was referred for ESD treatment. Here, we applied a novel entire traction method to deal with this subset of tumors.
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Fundus Gástrico , Tumores del Estroma Gastrointestinal , Gastroscopía , Neoplasias Gástricas , Humanos , Tumores del Estroma Gastrointestinal/cirugía , Tumores del Estroma Gastrointestinal/patología , Tumores del Estroma Gastrointestinal/diagnóstico por imagen , Fundus Gástrico/cirugía , Fundus Gástrico/patología , Fundus Gástrico/diagnóstico por imagen , Neoplasias Gástricas/cirugía , Neoplasias Gástricas/patología , Neoplasias Gástricas/diagnóstico por imagen , Gastroscopía/métodos , Femenino , Masculino , Persona de Mediana Edad , Tracción/métodosAsunto(s)
Resección Endoscópica de la Mucosa , Neoplasias Esofágicas , Humanos , Resección Endoscópica de la Mucosa/métodos , Resección Endoscópica de la Mucosa/instrumentación , Neoplasias Esofágicas/cirugía , Neoplasias Esofágicas/patología , Masculino , Tracción/métodos , Tracción/instrumentación , Esofagoscopía/métodos , Anciano , Persona de Mediana EdadRESUMEN
BACKGROUND: Craniocerebral injuries encompass brain injuries, skull fractures, cranial soft tissue injuries, and similar injuries. Recently, the incidence of craniocerebral injuries has increased dramatically due to the increased numbers of traffic accidents and aerial work injuries, threatening the physical and mental health of patients. AIM: To investigate the impact of failure modes and effects analysis (FMEA)-based emergency management on craniocerebral injury treatment effectiveness. METHODS: Eighty-four patients with craniocerebral injuries, treated at our hospital from November 2019 to March 2021, were selected and assigned, using the random number table method, to study (n = 42) and control (n = 42) groups. Patients in the control group received conventional management while those in the study group received FMEA theory-based emergency management, based on the control group. Pre- and post-interventions, details regarding the emergency situation; levels of inflammatory stress indicators [Interleukin-6 (IL-6), C-reactive protein (CRP), and procalcitonin (PCT)]; incidence of complications; prognoses; and satisfaction regarding patient care were evaluated for both groups. RESULTS: For the study group, the assessed parameters [pre-hospital emergency response time (9.13 ± 2.37 min), time to receive a consultation (2.39 ± 0.44 min), time needed to report imaging findings (1.15 ± 4.44 min), and test reporting time (32.19 ± 6.23 min)] were shorter than those for the control group (12.78 ± 4.06 min, 3.58 ± 0.71 min, 33.49 ± 5.51 min, 50.41 ± 11.45 min, respectively; P < 0.05). Pre-intervention serum levels of IL-6 (78.71 ± 27.59 pg/mL), CRP (19.80 ± 6.77 mg/L), and PCT (3.66 ± 1.82 ng/mL) in the study group patients were not significantly different from those in the control group patients (81.31 ± 32.11 pg/mL, 21.29 ± 8.02 mg/L, and 3.95 ± 2.11 ng/mL respectively; P > 0.05); post-intervention serum indicator levels were lower in both groups than pre-intervention levels. Further, serum levels of IL-6 (17.35 ± 5.33 pg/mL), CRP (2.27 ± 0.56 mg/L), and PCT (0.22 ± 0.07 ng/mL) were lower in the study group than in the control group (30.15 ± 12.38 pg/mL, 3.13 ± 0.77 mg/L, 0.38 ± 0.12 ng/mL, respectively; P < 0.05). The complication rate observed in the study group (9.52%) was lower than that in the control group (26.19%, P < 0.05). The prognoses for the study group patients were better than those for the control patients (P < 0.05). Patient care satisfaction was higher in the study group (95.24%) than in the control group (78.57%, P < 0.05). CONCLUSION: FMEA-based craniocerebral injury management effectively shortens the time spent on emergency care, reduces inflammatory stress and complication risk levels, and helps improve patient prognoses, while achieving high patient care satisfaction levels.
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The conformal coating or surface modification in high aspect ratio nanostructures is a tough challenge using traditional physical/chemical vapor deposition, especially for metal deposition. In this work, the growth behavior of iridium (Ir) metal formed by atomic layer deposition (ALD) in anodic aluminum oxide (AAO) templates was explored deeply. It is found that the surface hydrophilicity is crucial for the nucleation of ALD Ir. An in situ ALD Al2O3 layer with an ultra-hydrophilic surface can greatly promote the nucleation of ALD Ir in AAO nanopores. The effect of the Ir precursor pulse time, diameter, and length of AAO nanopores on the infiltration depth of ALD Ir was investigated systematically. The results show that the infiltration depth of ALD Ir in AAO nanopores is in proportion to the pore diameter and the square root of the Ir precursor pulse time, which follows a diffusion-limited model. Furthermore, the Ir precursor pulse time to obtain conformal Ir coating throughout all the AAO channels is in proportion to the square of the aspect ratio of AAO templates. In addition, the conformal Ir deposition in AAO nanopores is also related to the Ir precursor purge time and the O2 partial pressure. Insufficient Ir purge time could cause a CVD-like reaction, leading to the reduction of the infiltration depth in AAO. Higher O2 partial pressure can facilitate Ir nucleation with more Ir precursor consumption at the entrance of nanopores, decreasing the infiltration depth in AAO nanopores, so appropriate O2 partial pressure should be chosen for ALD Ir in high aspect ratio materials. Above all, our research is valuable for surface modification or coating of metal by ALD in high aspect ratio nanostructures for 3D microelectronics, nano-fabrication, catalysis and energy fields.
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BACKGROUND: Appendectomy is the procedure of choice for the treatment of acute appendicitis. However, surgery may not be appropriate for patients with coexisting severe illness or comorbidities such as acute pancreatitis (AP). Endoscopic retrograde appendicitis treatment (ERAT) may be a novel alternative to surgery for treating such patients where existing medical therapies have failed. CASE SUMMARY: We report 2 cases of moderately severe AP who developed acute uncomplicated appendicitis during their hospital stay and did not respond to traditional medical therapy. One patient had moderately severe AP due to hyperlipidemia, while the other patient had a gallstone induced by moderately severe AP. Neither patient was fit to undergo an appendectomy procedure because of the concurrent AP. Therefore, the alternative and minimally invasive ERAT was considered. After written informed consent was collected from the patients, the ERAT procedure was performed. Both patients exhibited fast postoperative recovery after ERAT with minimal surgical trauma. CONCLUSION: ERAT is a safe and effective minimally invasive endoscopic procedure for acute appendicitis in patients with coexistent AP.
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Naturally occurring C21-steroidal aglycones from Cynanchum exhibit significant antitumor effects. To expand the chemical diversity and get large scale C21-steroidal aglycones, the extracts of the roots of Cynanchum otophyllum were treated with 5% HCl in aqueous and the resulting hydrolysate was investigated. Nine new C21-steroidal aglycones (1-9) namely cynotogenins A-I, along with seventeen known analogous (10-26), were isolated from the hydrolysate. The structures of compounds 1-9 were elucidated by spectroscopic analysis (IR, HR-ESI-MS, 1D and 2D NMR) and comparison of observed spectroscopic data with those of reported in the literature. Aglycones 2-5 with rare cis-cinnamoyl group as well as 8 and 9 with 5ß,6ß-epoxy group were found from the genus of Cynanchum for the first time. The cytotoxicities of compounds 1-26 toward human cancer HeLa, H1299, HepG2, and MCF-7 cells were evaluated and preliminary structure-activity relationship (SAR) was discussed. Moreover, compound 20 inhibits HepG2 cell apoptosis and induces of G0/G1 phase arrest in a dose dependent manner.
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Antineoplásicos Fitogénicos/farmacología , Cynanchum/química , Esteroides/farmacología , Antineoplásicos Fitogénicos/aislamiento & purificación , Apoptosis/efectos de los fármacos , Ciclo Celular/efectos de los fármacos , Línea Celular Tumoral , China , Humanos , Estructura Molecular , Fitoquímicos/aislamiento & purificación , Fitoquímicos/farmacología , Raíces de Plantas/química , Esteroides/aislamiento & purificación , Relación Estructura-ActividadRESUMEN
OBJECTIVE: Waardenburg syndrome type 2 (WS2) is an autosomal dominant syndrome, characterized by bright blue eyes, hearing loss, and depigmented patches of hair and skin. It exhibits high phenotypic and genetic heterogeneity. We explored the molecular etiology in a Chinese family with WS2. METHODS: We recruited a three-generation family with three affected members. Medical history was obtained from all family members who underwent detailed physical examinations and audiology tests. Genomic DNA was extracted from peripheral blood of each individual, and 139 candidate genes associated with hearing loss were sequenced using Illumina HiSeq 2000 (Illumina Inc., San Diego, CA, USA) and verified by Sanger sequencing. RESULTS: Genetic evaluation revealed a novel nonsense heterozygous variant, NM_006941.4: c.342G>A (p.Trp114Ter) in exon 2 of the SOX10 gene in the three affected patients; no unaffected family member carried the variation. We did not detect the variation in 500 Chinese individuals with normal hearing or in 122 unrelated Chinese families with hearing loss, suggesting that it was specific to our patients. CONCLUSIONS: We identified a novel heterozygous nonsense variation in a family with syndromic hearing loss and WS2. Our findings expand the pathogenic spectrum and strengthen the clinical diagnostic role of SOX10 in patients with WS2.
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Factores de Transcripción SOXE , Síndrome de Waardenburg/genética , China , Color del Ojo , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Mutación , Linaje , Factores de Transcripción SOXE/genéticaRESUMEN
OBJECTIVE: To evaluate the genotype-phenotype correlation of branchio-otic syndrome (BOS) in a Chinese family. METHODS: The proband in this study was an 18-month-old boy with hearing loss, preauricular pit, and branchial fistula without a renal anomaly. We collected blood samples from 6 family members, including 4 who were affected by the syndrome. Targeted next-generation sequencing and Sanger sequencing were performed to identify pathogenic mutations in this family. RESULTS: Pedigree analysis indicated that the mode of inheritance in the family was consistent with the autosomal dominant pattern. Hearing loss was the most common manifestation, occurring in 4 patients. Other findings included preauricular pits (n=2), cervical fistulas (n=3) and abnormal pinnae (n=4). None of the patients had renal anomalies. Evaluation by pure-tone audiometry and temporal bone imaging demonstrated bilateral mixed hearing loss, as well as middle ear and inner ear deformities, in two patients. Mutational analysis of candidate genes in the selected patients led to the identification of a novel frameshift variant NM_000503.4: c.1075_1077delinsAT (p.Gly359Ilefs*7) in the EYA1 gene. CONCLUSIONS: The EYA1 c.1075_1077delinsAT mutation is the causative variant in the Chinese family with BOS, although the penetrance is variable within patients.
Asunto(s)
Síndrome Branquio Oto Renal , Mutación del Sistema de Lectura , Péptidos y Proteínas de Señalización Intracelular/genética , Proteínas Nucleares/genética , Proteínas Tirosina Fosfatasas/genética , Síndrome Branquio Oto Renal/genética , China , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Masculino , LinajeRESUMEN
OBJECTIVE: To expose the spectrum and frequency of GJB2, GJB3, SLC26A4 and MT-RNR1 in northwest China and to investigate the underlying causative genes in patients without common mutations. METHODS: We analyzed the mutation screening results of GJB2, GJB3, SLC26A4 and MT-RNR1 in 398 unrelated severe-to-profound probands with bilateral, symmetrical sensorineural hearing loss. Subsequently, we selected 10 probands with a significant family history of inherited hearing loss (HL) that did not have the above four common gene mutations to perform next-generation sequencing (NGS) of 139 known deafness genes, followed by co-segregation analysis of all available family members. RESULTS: Among the 398 patients, 69 (17.34%) had the biallelic GJB2 gene mutations, and the most common mutations were c.235delC, c.109G>A and c.299_300delAT, with allele frequencies of 12.31%, 3.38% and 3.89%, respectively. A total of 63 (15.83%) cases with biallelic SLC26A4 mutations were detected, and the most common pathogenic alleles were c.919-2A>G, c.2168A>G and c.1174A>T, with allele frequencies of 9.17%, 2.26% and 0.88%, respectively. Mitochondrial gene mutations were detected in 9 (2.26%) patients, with 5 cases of mitochondrial DNA (mtDNA) m.1555A>G mutation and 4 cases of mtDNA m.1095T>C mutation. In 10 probands with a clear family history of HL, NGS showed two novel pathogenic variants in 2 families, including c.4129C>T/c.3268C>T in LOXHD1, c.334G>A/c.2968G>T in CDH23. Sanger sequencing confirmed that these variants segregated with the HL in each family. CONCLUSIONS: Our results showed that GJB2 and SLC26A4 were the two major HL-causing genes in northwest China. The most common mutation alleles in GJB2 were c.235delC, c.109G>A and c.299_300delAT, and those in SLC26A4 were c.919-2A>G, c.2168A>G and c.1174A>T. In addition, both genes and their loci can be used as the first selection of deafness gene screening. Additionally, for patients who did not have mutations of these common genes, NGS provided an efficient diagnosis for increasing known deafness genes.