RESUMEN
Acral fibrochondromyxoid tumor (AFCMT) is a recently described likely benign mesenchymal neoplasm arising in the distal extremities with distinctive histologic features and a recurrent THBS1::ADGRF5 fusion. We studied an additional 37 cases of AFCMT and expanded on the so-far reported clinicopathologic and molecular findings. Tumors occurred in 21 females and 16 males, ranging in age from 17-78 years (median age: 47), and solely involved the hands (24/37, 65%) or feet (13/37, 35%). Histologic examination revealed well-delineated uni- or multinodular tumors with prominent vasculature-rich septa and bland, chondrocyte-like tumor cells set within abundant chondromyxoid stroma. Immunohistochemical studies showed tumor cells were positive for CD34 (25/27; 93%) and ERG (27/27; 100%), while negative for S100 protein (0/31). Molecular analysis revealed evidence of a THBS1::ADGRF5 fusion in 17 of 19 (89%) successfully tested tumors. Clinical follow-up was available in 8 cases (median: 97 months), with multiple local recurrences in 1 case at 276, 312, and 360 months. We conclude that AFCMT is a distinct entity with reproducible morphologic, immunohistochemical, and molecular genetic features that should be differentiated from other similar appearing acral mesenchymal neoplasms.
RESUMEN
Verticillium wilt, caused by the soilborne fungus Verticillium dahliae, poses a serious threat to the health of more than 200 plant species worldwide. Although plant rhizosphere-associated microbiota can influence plant resistance to V. dahliae, empirical evidence underlying Verticillium wilt resistance of perennial trees is scarce. In this study, we systemically investigated the effect of the soil microbiota on the resistance of smoke trees (Cotinus coggygria) to Verticillium wilt using field, greenhouse and laboratory experiments. Comparative analysis of the soil microbiota in the two stands of smoke trees suggested that Bacillus represented the most abundant and key microbial genus related to potential disease suppression. Smoke tree seedlings were inoculated with isolated Bacillus strains, which exhibited disease suppressiveness and plant growth-promoting properties. Furthermore, repletion of Bacillus agents to disease conducive soil significantly resulted in reduced incidence of smoke tree wilt and increased resistance of the soil microbiota to V. dahliae. Finally, we explored a more effective combination of Bacillus agents with the fungicide propiconazole to combat Verticillium wilt. The results establish a foundation for the development of an effective control for this disease. Overall, this work provides a direct link between Bacillus enrichment and disease resistance of smoke trees, facilitating the development of green control strategies and measurements of soil-borne diseases.
RESUMEN
BACKGROUND: It is uncertain how various degree of glycemic status affect left ventricular (LV) myocardial strain in ST-segment elevation myocardial infarction (STEMI) patients undergoing primary percutaneous coronary intervention (PPCI). PURPOSE: To investigate the relationship of glycemic status and myocardial strain in STEMI patients. STUDY TYPE: Prospective cohort study. POPULATION: 282 STEMI patients with cardiac magnetic resonance imaging 5 ± 2 days post-PPCI. Patients were divided into three groups based on the level of glycated hemoglobin A1c (HbA1c) (group 1: HbA1c < 5.7%; group 2: 5.7% ≤ HbA1c < 6.5%; group 3: HbA1c ≥ 6.5%). FIELD STRENGTH/SEQUENCE: 3.0-T; late gadolinium enhancement, balanced steady-state free precession cine sequence, black blood fat-suppressed T2-weighted. ASSESSMENT: LV function, myocardial strain, and infarct characteristics (infarct size, microvascular obstruction, and intramyocardial hemorrhage) were compared among the three groups by one-way analysis of variance (ANOVA) or Wilcoxon rank sum test. Intraobserver and interobserver reproducibility of LV myocardial strain was evaluated. STATISTICAL TESTS: ANOVA or Wilcoxon rank sum test, Pearson chi-square or Fisher's exact test, Spearman's correlation analyses and multivariable linear regression analysis. A two-tailed P value <0.05 was considered statistically significant. RESULTS: Infarct characteristics were similar among the three groups (P = 0.934, P = 0.097, P = 0.533, respectively). Patients with HbA1c ≥ 6.5% had decreased LV myocardial strain compared with HbA1c 5.7%-6.4%, as evidenced by global radial (GRS), global circumferential (GCS), and global longitudinal (GLS) strain. However, no significant differences in myocardial strain were observed between patients with HbA1c 5.7%-6.4% and HbA1c < 5.7% (P = 0.716; P = 0.294; P = 0.883, respectively). After adjustment for confounders, HbA1c as a continuous variable (beta coefficient [ß] = -0.676; ß = 0.172; ß = 0.205, respectively) and HbA1c ≥ 6.5% (ß = -3.682; ß = 0.552; ß = 0.681, respectively) were both independently associated with decreased GRS, GCS, and GLS. DATA CONCLUSION: Patients with uncontrolled blood glucose (categorized in group HbA1c ≥ 6.5%) had worse myocardial strain. The level of HbA1c appeared to be independently associated with decreased myocardial strain in STEMI patients. LEVEL OF EVIDENCE: 2 TECHNICAL EFFICACY STAGE: 2.
Asunto(s)
Intervención Coronaria Percutánea , Infarto del Miocardio con Elevación del ST , Humanos , Infarto del Miocardio con Elevación del ST/diagnóstico por imagen , Medios de Contraste , Resultado del Tratamiento , Estudios Prospectivos , Reproducibilidad de los Resultados , Hemoglobina Glucada , Imagen por Resonancia Cinemagnética , Gadolinio , Imagen por Resonancia Magnética , Función Ventricular Izquierda , Volumen SistólicoRESUMEN
An 11-year-old female was referred from an outside institution after a diagnostic biopsy and subsequent excision of a progressively enlarging reddish-brown nodule demonstrated features concerning for a balloon cell nevus with severe atypia versus a high-grade melanocytoma. Upon review of the initial biopsy specimen and molecular data, we favored the diagnosis to be consistent with a high-grade melanocytoma with balloon cell changes while considering the possibility of balloon cell melanoma due to concerning histopathologic and genetic abnormalities. In this case study, we discuss critical diagnostic considerations in this rare pediatric case and highlight important pathologic and clinical features of melanocytomas and balloon cell melanoma.
Asunto(s)
Melanoma , Nevo Pigmentado , Neoplasias Cutáneas , Humanos , Femenino , Melanoma/diagnóstico , Melanoma/patología , Niño , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/diagnóstico , Nevo Pigmentado/patología , Nevo Pigmentado/diagnóstico , Diagnóstico Diferencial , Melanocitos/patologíaRESUMEN
BACKGROUND: While the list of fusion-driven soft tissue neoplasms is expanding rapidly, their importance among cutaneous and superficial mesenchymal and adnexal neoplasms remains poorly understood. This challenge is especially evident in cases with ambiguous histopathology that are difficult to classify based on morphology. AIMS: Our goal was to investigate the benefits of next-generation sequencing in diagnosing complex cutaneous neoplasms. MATERIALS & METHODS: Departmental archives were searched for fusion-driven cutaneous neoplasms. Slides were retrieved and clinical information including follow-up was obtained. RESULTS: Fifteen cases occurred in eight female and seven male patients, with a median age of 26 years (range: 1-83) at diagnosis. Tumors involved the extremities (9), scalp (5), and head and neck (1). Predominant features included myoepithelial (5), nested spindled with clear cytoplasm (2), atypical adnexal/squamoid (2), small round blue cell (2), cellular spindled (3), and fibrohistiocytic morphology (1). Most frequently encountered fusions involved EWSR1 (6) fused to ERG (1), FLI1 (1), CREB1 (2), CREM (1), PBX3 (1), followed by PLAG1 (4) with LIFR (2), TRPS1 (1) and CHCHD7. Additional fusions encountered were YAP1::NUTM1, EML4::ALK, SS18::SSX1 (2), and a novel fusion: ACTB::ZMIZ2. Integration of histologic features and molecular findings led to final diagnoses of primary cutaneous Ewing sarcoma (2), soft tissue myoepithelioma (4), cutaneous syncytial myoepithelioma (1), cutaneous adnexal carcinoma (1), porocarcinoma (1), inflammatory myofibroblastic tumor (1), synovial sarcoma (2), clear cell sarcoma (2), and angiomatoid fibrous histiocytoma (1). DISCUSSION AND CONCLUSION: Our results show that fusion testing can be a helpful diagnostic tool, especially in cases with unusual or uncommon morphology in superficial sites. Furthermore, it can allow for the identification of potential therapeutic targets in some instances.
Asunto(s)
Neoplasias Cutáneas , Humanos , Femenino , Masculino , Adulto , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/metabolismo , Persona de Mediana Edad , Anciano , Niño , Adolescente , Anciano de 80 o más Años , Preescolar , Lactante , Proteínas de Fusión Oncogénica/genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Factores de Transcripción/genética , Neoplasias de Anexos y Apéndices de Piel/patología , Neoplasias de Anexos y Apéndices de Piel/genética , Neoplasias de Anexos y Apéndices de Piel/diagnóstico , Adulto Joven , Reordenamiento GénicoRESUMEN
BACKGROUND: Cutaneous malignant mixed tumor (MMT) is a rare sweat gland-derived tumor characterized by admixed malignant epithelial cells and chondromyxoid stroma. Approximately 50 cases have been described in the literature. Metastasis, which may occur in more than one-third of cases, is most common in the lung. METHODS: We summarized the clinicopathologic features of a patient with cutaneous MMT metastatic to the lungs. A literature review of similar cases was completed using Web of Science, Scopus, and PubMed databases. RESULTS: A woman in her 70s presented with an enlarging mass on her left eyebrow; histopathologic examination showed large islands of atypical cells with increased mitotic activity, admixed with necrosis on a background of fibrotic and chondromyxoid stroma. Multiple lung nodules were identified during follow-up. Examination of a pulmonary core needle biopsy specimen was consistent with metastatic cutaneous MMT. Literature review identified 10 cases published between 1980 and 2017. Most primary tumors were large (≥4 cm). Local recurrence was uncommon, and the lung was the only metastatic site in 5 cases. Histopathologically, metastatic tumors were described as more cellular, with diminished stromal tissue compared with the primary lesion. CONCLUSION: This is 1 of the 11 reports of cutaneous MMT with metastasis to the lungs found in the English-language literature published after 1980. Of note, most reports were published before 1990, making this case study one of the few contemporary descriptions of cutaneous MMT with pulmonary metastases. We think that the present case report will increase the awareness of this rare tumor.
Asunto(s)
Neoplasias Pulmonares , Tumor Mixto Maligno , Neoplasias de Tejido Conjuntivo , Neoplasias Cutáneas , Neoplasias de las Glándulas Sudoríparas , Femenino , Humanos , Neoplasias Pulmonares/secundario , Neoplasias Cutáneas/patología , Neoplasias de las Glándulas Sudoríparas/patología , AncianoRESUMEN
BACKGROUND: The impact of sex on the association of obstructive sleep apnoea (OSA) with recurrent cardiovascular events following acute coronary syndrome (ACS) remains uncertain. This study sought to examine the association between OSA and long-term cardiovascular outcomes in women and men with ACS. METHODS: In this prospective cohort study, we recruited 2160 ACS patients undergoing portable sleep monitoring between June 2015 and January 2020. The primary end-point was major adverse cardiovascular and cerebrovascular event (MACCE), including cardiovascular death, myocardial infarction, stroke, ischaemia-driven revascularisation or hospitalisation for unstable angina or heart failure. RESULTS: After exclusion of patients with failed sleep studies, central sleep apnoea, regular continuous positive airway pressure therapy and loss of follow-up, 1927 patients were enrolled. Among them, 298 (15.5%) were women and 1014 (52.6%) had OSA (apnoea-hypopnoea index ≥15 events·h-1). The prevalence of OSA was 43.0% and 54.4% in women and men, respectively. In 4339â person-years (median 2.9â years, interquartile range 1.5-3.6â years), the cumulative incidence of MACCE was significantly higher in OSA versus non-OSA groups in the overall population (22.4% versus 17.7%; adjusted hazard ratio (HR) 1.29, 95% CI 1.04-1.59; p=0.018). OSA was associated with greater risk of MACCE in women (28.1% versus 18.8%; adjusted HR 1.68, 95% CI 1.02-2.78; p=0.042), but not in men (21.6% versus 17.5%; adjusted HR 1.22, 95% CI 0.96-1.54; p=0.10). No significant interaction was noted between sex and OSA for MACCE (interaction p=0.32). The incremental risk in women was attributable to higher rates of hospitalisation for unstable angina and ischaemia-driven revascularisation. CONCLUSIONS: In hospitalised ACS patients, OSA was associated with increased risk of subsequent events, particularly among women. Female patients with ACS should not be neglected for OSA screening and dedicated intervention studies focusing on women with ACS and comorbid OSA should be prioritised.
Asunto(s)
Síndrome Coronario Agudo , Apnea Obstructiva del Sueño , Masculino , Humanos , Femenino , Síndrome Coronario Agudo/complicaciones , Estudios Prospectivos , Factores de Riesgo , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/terapia , Apnea Obstructiva del Sueño/diagnóstico , Angina Inestable/complicaciones , Angina Inestable/epidemiologíaRESUMEN
BACKGROUND: The mortality following ST-segment elevation myocardial infarction (STEMI) remains substantial in the reperfusion era. Shenfu injection, as a traditional Chinese herbal formula, can alleviate ischemia-reperfusion injury through multiple pharmacologic effects. However, no robust data are available regarding the role of Shenfu injection in reducing infarct size for patients with STEMI undergoing primary percutaneous coronary intervention (PPCI). METHODS/DESIGN: This RESTORE trial is a multicenter, randomized, double-blind, parallel-group, placebo-controlled trial (NCT04493840). A total of 326 eligible patients with first-time anterior STEMI undergoing PPCI within 12 h of symptom onset will be enrolled from 10 centers in mainland China. Patients are randomized in a 1:1 fashion to receive either intravenous Shenfu injection (80mL Shenfu injection + 70mL 5% glucose injection) or placebo group (150mL 5% glucose injection) before reperfusion and followed by once a day until 5 days after PPCI. The primary end point is infarct size assessed by cardiac magnetic resonance (CMR) imaging 5±2 days after PPCI. The major secondary end points include enzymatic infarct size, microvascular obstruction, intramyocardial hemorrhage, left ventricular volume and ejection fraction assessed by CMR, as well as cardiovascular events at 30 days. CONCLUSIONS: The RESTORE trial is sufficiently powered to demonstrate the clinical effects of Shenfu injection on myocardial injury in STEMI patients undergoing PPCI in the contemporary era.
Asunto(s)
Intervención Coronaria Percutánea , Infarto del Miocardio con Elevación del ST , Humanos , Infarto del Miocardio con Elevación del ST/tratamiento farmacológico , Infarto del Miocardio con Elevación del ST/diagnóstico , Intervención Coronaria Percutánea/métodos , Imagen por Resonancia Magnética , Método Doble Ciego , Resultado del TratamientoRESUMEN
A 74-year-old male presented with rectal pain; workup uncovered an anal mass, and a diagnosis of melanoma was rendered via histologic examination and immunohistochemical (IHC) studies. Droplet digital PCR (ddPCR)-based BRAF testing was performed and revealed the presence of BRAF V600E, which is a common targetable genetic alteration in melanoma. Interestingly, the ratio of mutant to wild-type copy number was low (0.3%), whereas tumor cell percentage on tissue slides was 90%. With additional workup, BRAF V600E IHC confirmed a very small subset of BRAF V600E-positive cells, and a next-generation sequencing (NGS) panel revealed a pathogenic KIT variant, p.L576P, with an allele frequency of 63%. It was initially hypothesized that the main driver of the melanoma was the KIT alteration, whereas a small subclone (not detected by NGS, which has a 5% limit of detection) was driven by the BRAF V600E detected by ddPCR. To determine whether there were morphologic differences between the 2 clones, a careful review of the histology was performed and revealed distinct morphology of the BRAF V600E-positive cells, including pale cytoplasm, nuclear grooves, and infiltrating eosinophils. Additional IHC workup of the BRAF V600E-positive cells showed coexpression of CD1a, Langerin, and S100, diagnostic of Langerhans cell histiocytosis (LCH). This diagnosis was unexpected and would have been missed without highly sensitive molecular testing; yet it is of clinical importance for the patient. This case raises interesting biology questions regarding the relationship between melanoma and LCH; moreover, it highlights the importance of integrating quantitative information in molecular data interpretation.
Asunto(s)
Histiocitosis de Células de Langerhans , Melanoma , Masculino , Humanos , Anciano , Proteínas Proto-Oncogénicas B-raf/genética , Mutación , Melanoma/diagnóstico , Melanoma/genética , Histiocitosis de Células de Langerhans/diagnóstico , Histiocitosis de Células de Langerhans/genéticaRESUMEN
OBJECTIVES: Young patients account for about half of ST-segment elevation myocardial infarction (STEMI) patients and display a unique risk profile compared with old patients. Whether these differences are related to disparities in ventricular remodeling remains unknown. This study aimed to evaluate age-related differences in ventricular remodeling after primary percutaneous coronary intervention (PPCI) for STEMI. METHODS: In this observational study, consecutive STEMI patients between October 2019 and March 2021 who underwent serial cardiovascular magnetic resonance at index admission (3 to 7 days) and 3 months after PPCI were enrolled. Adverse remodeling was defined as ≥ 10% enlargement in left ventricular end-diastolic volume index (LVEDVi), while reverse remodeling was defined as a decrease in left ventricular end-systolic volume index (LVESVi) of more than 10%. RESULTS: A total of 123 patients were included and grouped into young (< 60 years, n = 71) and old (≥ 60 years, n = 52) patients. Despite generally similar baseline structural and infarct characteristics, LVESVi significantly decreased only in old patients during follow-up (p = 0.034). The incidence of adverse remodeling was higher (49.3% vs 30.8%, p = 0.039), while the incidence of reverse remodeling was lower (31.0% vs 53.8%, p = 0.011) in young compared with old patients. Younger age (< 60 years) was associated with a significantly higher risk of adverse remodeling (adjusted OR 3.51, 95% CI 1.41-8.74, p = 0.007) and lower incidence of reverse remodeling (adjusted OR 0.42, 95% CI 0.18-0.97, p = 0.046). CONCLUSIONS: In STEMI patients undergoing PPCI, young patients are at a higher risk of adverse remodeling and less probably develop reverse remodeling than old patients. Equal or more attention should be paid to young patients with STEMI compared with their older counterparts. KEY POINTS: ⢠In STEMI patients undergoing PPCI, young patients displayed unfavorable remodeling compared with old patients. ⢠Young patients are at a higher risk of adverse remodeling and less probably develop reverse remodeling than old patients. ⢠Equal or more attention should be paid to young patients compared with their older counterparts.
Asunto(s)
Intervención Coronaria Percutánea , Infarto del Miocardio con Elevación del ST , Humanos , Persona de Mediana Edad , Infarto del Miocardio con Elevación del ST/diagnóstico por imagen , Infarto del Miocardio con Elevación del ST/patología , Función Ventricular Izquierda , Remodelación Ventricular , Imagen por Resonancia Magnética , Espectroscopía de Resonancia Magnética , Intervención Coronaria Percutánea/efectos adversos , Volumen Sistólico , Resultado del TratamientoRESUMEN
BACKGROUND: The effects of obstructive sleep apnea (OSA) on the prognosis of acute coronary syndrome (ACS) without revascularization remain unclear, so the aim of the present study was to elucidate the association of OSA with subsequent cardiovascular events in ACS patients with and without revascularization.MethodsâandâResults: We prospectively recruited hospitalized ACS patients undergoing sleep monitoring between June 2015 and January 2020. OSA was defined as an apnea-hypopnea index ≥15 events/h. The primary endpoint was a major adverse cardiovascular and cerebrovascular event (MACCE), including cardiovascular death, myocardial infarction, stroke, ischemia-driven revascularization, or hospitalization for unstable angina or heart failure. Among 1,927 patients, 52.6% had OSA and 69.4% underwent revascularization. During a 2.9-year follow-up (1.5-3.6 years), the risk of MACCE was similar in patients with or without revascularization. OSA was an independent predictor of MACCE in the non-revascularization group (22.6% vs. 14.6%; hazard ratio (HR) 1.861; 95% confidence interval (CI) 1.239-2.796; P=0.003) but not in revascularization group (22.3% vs. 19.3%; HR 1.135; 95% CI 0.882-1.460; P=0.324). The incremental risk in the non-revascularization group was attributable to more hospitalizations for unstable angina (14.2% vs. 8.6%; HR 1.896; 95% CI 1.124-3.199; P=0.016). CONCLUSIONS: For patients with ACS, OSA was independently associated with higher risk of recurrent cardiovascular events among patients without revascularization but not among patients undergoing revascularization. The benefits of suitable OSA treatment for patients without revascularization need further investigation.
Asunto(s)
Síndrome Coronario Agudo , Apnea Obstructiva del Sueño , Humanos , Síndrome Coronario Agudo/complicaciones , Síndrome Coronario Agudo/cirugía , Estudios Prospectivos , Sueño , Angina Inestable/epidemiología , Factores de RiesgoRESUMEN
Halloysite-based tubular nanorockets with chemical-/light-controlled self-propulsion and on-demand acceleration in velocity are reported. The nanorockets are fabricated by modifying halloysite nanotubes with nanoparticles of silver (Ag) and light-responsive α-Fe2O3 to prepare a composite of Ag-Fe2O3/HNTs. Compared to the traditional fabrication of tubular micro-/nanomotors, this strategy has merits in employing natural clay as substrates of an asymmetric tubular structure, of abundance, and of no complex instruments required. The velocity of self-propelled Ag-Fe2O3/HNTs nanorockets in fuel (3.0% H2O2) was ca. 1.7 times higher under the irradiation of visible light than that in darkness. Such light-enhanced propulsion can be wirelessly modulated by adjusting light intensity and H2O2 concentration. The highly repeatable and controlled "weak/strong" propulsion can be implemented by turning a light on and off. With the synergistic coupling of the photocatalysis of the Ag-Fe2O3 heterostructure and advanced oxidation in H2O2/visible light conditions, the Ag-Fe2O3/HNTs nanorockets achieve an enhanced performance of wastewater remediation. A test was done by the catalytic degradation of tetracycline hydrochloride. The light-enhanced propulsion is demonstrated to accelerate the degradation kinetics dramatically. All of these results illustrated that such motors can achieve efficient water remediation and open a new path for the photodegradation of organic pollutions.
RESUMEN
BACKGROUND: To study the impact of de-escalation antiplatelet therapy retaining P2Y12 inhibition on major bleeding and ischemic outcomes after percutaneous coronary intervention (PCI) among East Asians and non-East Asians was unclear. METHODS: We systematically searched PubMed, Embase, and the Cochrane Library for randomized controlled trials through September 2020. Eight trials were included, which studied de-escalation of DAPT (D-DAPT, switching to P2Y12 inhibitor monotherapy, or switching to clopidogrel or dose reduction of the P2Y12 inhibitor after 1 to 3 months) versus 12 months standard DAPT (S-DAPT). The primary outcomes data was conducted using random effects models. RESULTS: Among the 8 included trials consisting of 37,775 patients, 62.6% presented with acute coronary syndrome. The median follow-up duration ranged from 12 to 24 months. Compared with S-DAPT, D-DAPT was associated with a lower risk of major bleeding (RR = 0.67, 95% CI 0.48-0.93, p = 0.02); however, this was only observed among East-Asians (RR = 0.61, 95% CI 0.37-0.99, p = 0.048). Among non-East Asians, the rate of major bleeding was similar between the two groups (RR = 0.73, 95% CI 0.46-1.14, p = 0.17, p for interaction = 0.59). There were no significant differences in the major adverse cardiovascular events (MACE) between D-DAPT and S-DAPT treatment among both East Asians (RR = 0.84, 95% CI 0.66-1.08, p = 0.18) and non-East Asians (RR = 0.89, 95% CI 0.79-1.00, p = 0.059, p for interaction = 0.71). CONCLUSIONS: The De-escalation strategy that retains P2Y12 inhibition after a PCI was associated with reduced risk of bleeding events, which was only demonstrated in East Asians patients, and not in non-East Asian patients.
Asunto(s)
Pueblo Asiatico , Stents Liberadores de Fármacos , Infarto del Miocardio/terapia , Intervención Coronaria Percutánea/métodos , Inhibidores de Agregación Plaquetaria/uso terapéutico , Ensayos Clínicos Controlados Aleatorios como Asunto/métodos , China/epidemiología , Humanos , Incidencia , Infarto del Miocardio/etnología , Resultado del TratamientoRESUMEN
BACKGROUND: Poromas, and their malignant counterparts, porocarcinomas, harbor recurrent translocations involving YAP1-MAML2, YAP1-NUTM1, and infrequently WWTR1-NUTM1; YAP1-NUTM1 being the most common in porocarcinomas. NUT immunohistochemistry (IHC) can be used to identify NUTM1-translocated tumors. This study sought to investigate potential novel NUTM1-fusion partners among NUT IHC-positive poromas and porocarcinomas. METHODS: Thirteen NUT IHC-positive poroid tumors (four poromas and nine porocarcinomas) were identified within a multi-institutional international cohort. Next-generation sequencing (NGS) assessed for NUTM1 fusion partners. RESULTS: NGS detected a NUTM1 fusion in 12 of 13 cases: YAP1-NUTM1 (11/12 cases) and WWTR1-NUTM1 (1/12 cases). Two of the cases (2/12) with NUTM1 fusion were not called by the NGS algorithm but had at least one read-spanning YAP1-NUTM1 break point upon manual review. A NUTM1 fusion was not identified in one case; however, the sample had low RNA quality. The following fusion events were identified: YAP1 exon 4::NUTM1 exon 3 in six cases, YAP1 exon 6::NUTM1 exon 2 in one case, YAP1 exon 3::NUTM1 exon 3 in three cases, WWTR1 exon 3::NUTM1 exon 3 in one case, and YAP1 exon 8::NUTM1 exon 3 fusion in one case. CONCLUSION: While no novel NUTM1 fusion partners were identified within our cohort, 12 of 13 cases had discoverable NUTM1 fusions; YAP1-NUTM1 fusion was detected in 11 cases (92%) and WWTR1-NUTM1 in 1 case (8%). These data corroborate findings from other recent investigations and further substantiate the utility of NUT IHC in diagnosing a subset of poroid neoplasms. In addition, two of our cases harbored fusions of YAP1 exon 6 to NUTM1 exon 3 and YAP1 exon 8 to NUTM1 exon 2, which have not been reported before in poroid neoplasms and indicate novel break points of YAP1.
Asunto(s)
Porocarcinoma Ecrino , Poroma , Neoplasias de las Glándulas Sudoríparas , Humanos , Proteínas Nucleares/genética , Proteínas de Fusión Oncogénica/genética , ARN , Neoplasias de las Glándulas Sudoríparas/genética , Factores de Transcripción/genética , Proteínas Señalizadoras YAPRESUMEN
BACKGROUND AND OBJECTIVE: The impact of obstructive sleep apnoea (OSA) in the setting of acute ST-segment elevation myocardial infarction (STEMI) is complex and divergent. This study aimed to investigate the association between OSA and coronary collateral vessel (CCV) development in patients with STEMI. METHODS: The present study prospectively screened 282 STEMI patients with an overnight sleep study. OSA was defined as apnoea-hypopnoea index (AHI) ≥15 events/h. The coronary angiograms were used for the assessment of Rentrop grades representing CCVs. RESULTS: Among 119 patients enrolled, 60 patients had OSA (50.4%). The prevalence of CCV development (Rentrop grade ≥ 2) was significantly higher in OSA group than in the non-OSA group (43.3% vs. 5.1%, p < 0.001). There was a parallel increase in the Rentrop grades associated with OSA severity and worsening of hypoxaemia indicators (minimum arterial oxygen saturation [SaO2 ], mean SaO2 and time with SaO2 below 90%). After adjustment for clinical and angiographic characteristics, and pre-procedure medications that might interact with OSA, AHI as a continuous variable (OR 1.11, 95% CI 1.08-1.21, p < 0.001) and the presence of OSA (OR 11.41, 95% CI 2.70-48.15, p = 0.001) were both associated with dramatically higher incidence of CCV development. CONCLUSION: Our study demonstrated that the presence of OSA might augment CCV development in STEMI patients. The potential protective effects and mechanisms of OSA in the acute setting of STEMI should be further investigated in larger studies.
Asunto(s)
Infarto del Miocardio con Elevación del ST , Apnea Obstructiva del Sueño , Humanos , Polisomnografía , Prevalencia , Infarto del Miocardio con Elevación del ST/complicaciones , Infarto del Miocardio con Elevación del ST/diagnóstico por imagen , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/diagnóstico por imagen , Apnea Obstructiva del Sueño/epidemiologíaRESUMEN
BACKGROUND This study compared the effects of peritoneal dialysis and hemodialysis on cognitive dysfunction and health-related quality of life (HRQOL) in end-stage renal disease (ESRD) patients and analyzed other potential influencing factors. MATERIAL AND METHODS A total of 265 patients who received dialysis at our hospital were included and divided into the hemodialysis group (n=115) and the peritoneal dialysis group (n=150). The cognitive performance was assessed by the Beijing version of the Montreal Cognitive Assessment. The Kidney Disease Quality of 36-Item Short Form Survey and a kidney disease-related quality of life assessment were used for evaluating HRQOL. Univariate and multivariate linear regression analyses were used to explore the effects of dialysis on cognitive dysfunction and HRQOL. RESULTS As compared with the hemodialysis group, the peritoneal dialysis group had lower scores on the Montreal Cognitive Assessment (ß=-8.35, 95% CI: -9.85 to -6.86), 36-Item Short Form Survey (ß=-10.20, 95% CI: -11.94 to -8.45), and kidney disease-related quality of life assessment (ß=-8.67, 95% CI: -10.10 to -7.23). After adjustment for sex, age, BMI, marital status, educational level, income level, presence of diabetes, duration of kidney disease, duration of dialysis, and dialysis frequency, the results were consistent with that of the crude model. CONCLUSIONS In the present study, patients receiving peritoneal dialysis had worse cognitive dysfunction and worse HRQOL compared to patients receiving hemodialysis, which might lead to poorer outcomes of ESRD patients. The related factors affecting cognitive dysfunction and HRQOL were also explored, which could help clinicians to determine the optimal treatment for ESRD patients.
Asunto(s)
Disfunción Cognitiva/epidemiología , Encuestas Epidemiológicas/métodos , Fallo Renal Crónico/epidemiología , Fallo Renal Crónico/terapia , Diálisis Peritoneal/métodos , Calidad de Vida/psicología , Diálisis Renal/métodos , Beijing/epidemiología , Disfunción Cognitiva/psicología , Estudios Transversales , Femenino , Humanos , Fallo Renal Crónico/psicología , Masculino , Persona de Mediana Edad , Diálisis Peritoneal/psicología , Diálisis Renal/psicologíaRESUMEN
Melanocytoma is a benign tumor with histologic similarity to oculodermal melanocytosis, which can undergo malignant transformation in rare cases. Melanocytoma more commonly involves the optic disc, and few cases of orbital melanocytoma have been reported. Primary orbital melanoma is a rare malignancy known to arise from pigmentary conditions, although there is little information on this tumor arising from melanocytoma. The authors present a case of malignant transformation of orbital melanocytoma in the setting of ipsilateral oculodermal melanocytosis. This case illustrates histopathologic features associated with malignant transformation and highlights the significance of GNAQ, BAP1, and specific intrachromosomal alterations occurring in oculodermal melanocytosis and melanocytoma. The molecular markers observed in this case are of interest as they have overlap with those present in uveal melanoma. This case demonstrates a timeline of genetic and molecular alterations occurring in the malignant transformation of orbital melanocytoma.
Asunto(s)
Melanoma , Disco Óptico , Neoplasias Orbitales , Neoplasias de la Úvea , Transformación Celular Neoplásica/genética , Transformación Celular Neoplásica/patología , Humanos , Melanoma/complicaciones , Melanoma/diagnóstico , Melanoma/genética , Mutación , Disco Óptico/patología , Neoplasias Orbitales/complicaciones , Neoplasias Orbitales/diagnóstico , Neoplasias Orbitales/genéticaRESUMEN
Hidradenoma papilliferum (HP) is a benign adnexal neoplasm of the vulva that typically presents as a unilateral, flesh-colored papule in the labium majus in middle-aged Caucasian women. It is considered to be a close counterpart of the intraductal papilloma of the breast. Malignant transformation is rare with few reports in the literature. We present a case of vulvar mammary-type apocrine hidradenocarcinoma arising in an HP.
Asunto(s)
Adenocarcinoma/diagnóstico , Carcinoma Intraductal no Infiltrante/diagnóstico , Carcinoma de Apéndice Cutáneo/diagnóstico , Adenomas Tubulares de las Glándulas Sudoríparas/patología , Adenocarcinoma/cirugía , Carcinoma Intraductal no Infiltrante/patología , Carcinoma de Apéndice Cutáneo/patología , Diagnóstico Diferencial , Femenino , Humanos , Persona de Mediana Edad , Cirugía de Mohs/métodos , Neoplasias de las Glándulas Sudoríparas/patología , Resultado del Tratamiento , Adenomas Tubulares de las Glándulas Sudoríparas/complicaciones , Adenomas Tubulares de las Glándulas Sudoríparas/diagnóstico , Vulva/patología , Neoplasias de la Vulva/patologíaRESUMEN
Eicosanoids play important roles in the cardiovascular system. The metabolic disorders involving some eicosanoids in the pathophysiologic process include myocardial infarction and myocardial ischaemia-reperfusion injury. Percutaneous coronary intervention (PCI) is often the first-choice strategy for acute ST-segment elevation myocardial infarction (STEMI) according to current guidelines. This study aimed to investigate the dynamic eicosanoid metabolic profile in STEMI patients after PCI. The eicosanoid profiles in plasma of 20 patients at seven times (30 minutes before surgery; 6, 12, 24, and 72 hours after surgery; 1 day before discharge; and 28 days after surgery) were studied by using metabolomics. Levels of PGE2, PGD2, and TXA2 were decreased significantly and EETs contents were increased significantly at 6 hours after PCI. EETs were hydrolysed to DHETs within a short time after surgery (12-72 hours). 20-HETE content was significantly increased. In samples taken at the time of discharge and at follow-up after discharge, LTB4 level continued to increase. This work suggests that change in content of some functional eicosanoids may be involved in cardiac injury and repair after PCI in a synergistic manner.
Asunto(s)
Daño por Reperfusión Miocárdica , Infarto del Miocardio con Elevación del ST , Anciano , Humanos , Persona de Mediana Edad , Infarto del Miocardio , Intervención Coronaria PercutáneaRESUMEN
ABSTRACT: Enteric duplication cysts (EDCs) are rare congenital malformations consisting of double-walled cystic or tubular structures lined by gastrointestinal type epithelium. EDCs share a common muscular wall and blood supply with the adjacent duplicated bowel with very rare exceptions. The majority of EDCs are intraabdominal with cases less commonly intrathoracic or thoracoabdominal. To the best of our knowledge, we present the first reported case of primary cutaneous EDC to occur outside the abdominal and thoracic cavities. A 17-year-old male without a significant medical or surgical history underwent excision of a cystic nodule on the left hip. On histopathology, a dermal to subcuticular cyst exhibited an epithelial lining with 2 distinct components including cuboidal to columnar mucinous cells (CK7+, CK20-, and CDX2-) and complex glandular colonic-type mucosa (CK7-, CK20+, and CDX2+). A thick muscular wall resembling muscularis mucosa and muscularis propria surrounded the cyst. Findings supported a primary cutaneous enteric duplication cyst of uncertain developmental etiology. The novel nature of this entity could represent a diagnostic challenge.