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Background: Cabozantinib use in everyday clinical practice for advanced or metastatic renal cell carcinoma (RCC) is relatively recent, and real-world data on treatment persistence, adherence and sequencing are still limited. Methods: We conducted an analysis based on an integrated administrative database, covering around 6.9 million health-assisted Italian individuals, to explore the use of cabozantinib for RCC. Patients with at least one prescription for cabozantinib during 2017-2020 were searched. These were characterized during all available period (i.e. from 2010 onwards) before the index date and were observed after inclusion. Results: A total of 113 patients treated with cabozantinib in second or subsequent line were included, and their demographic, clinical and treatment characteristics were described. About half of these RCC patients were aged >65 years (47.8%). Sixty patients (53.1%) were highly adherent to cabozantinib therapy, and the median cabozantinib treatment duration of use was 8.7 months (95% confidence interval: 5.8-11.1). During the first year of follow-up, the average total cost per patient was 32,508. Conclusions: We described second or subsequent line cabozantinib treatment for RCC in a real-world setting and the economic burden of disease in Italy, taking advantage of large, integrated administrative databases.
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Bladder cancer is considered a global health concern characterized by significant morbidity and mortality rates. The complex relationship between diet and bladder cancer is examined, with a specific focus on the role of diet in risk, outcomes, and treatment efficacy. Attention is drawn to the burgeoning field of immunotherapy in bladder cancer treatment, and the possible influence of diet on its outcomes is explored. While evidence remains limited, prior studies in other cancer types have suggested a potential connection between diet and immunotherapy response. To address this knowledge gap, the ongoing BLOSSOM study is presented, which aims to investigate the link between dietary factors, lifestyle, and the effectiveness of immunotherapy in patients with non-muscle-invasive bladder cancer. Ongoing efforts to decipher the intricate relationship between diet and bladder cancer care are highlighted, emphasizing the quest to unravel the dietary puzzle for the improvement of bladder cancer management.
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Neoplasias , Envío de Mensajes de Texto , Humanos , Neoplasias/terapia , Neoplasias/psicologíaRESUMEN
INTRODUCTION: This retrospective study investigates the efficacy of cemiplimab, a monoclonal antibody targeting the PD-1 receptor, in treating squamous cell carcinoma (SCC) of the skin. METHODS: The study analyzes data from 50 patients with SCC, focusing on various clinical parameters, including patient demographics, tumor characteristics, treatment history, disease status at the beginning of therapy, and survival outcomes. RESULTS: Of the patients who received at least one cycle of cemiplimab, 42% showed a clinical response. Adverse reactions were generally low, with the safety profile deemed excellent. During a median follow-up of 9.6 months, 17 patients experienced progression or death. Among these, 15 patients had died at the time of the analysis. The median progression-free survival (PFS) for the entire cohort was approximately 20.8 months, while median overall survival (OS) was not reached. Univariate Cox regression analysis for PFS showed that tumors in the arms and legs were associated with higher progression risk, while age above 65 years was not statistically significant. Distant metastasis exhibited a trend towards improved PFS. In terms of OS, distant metastasis was a significant predictor of reduced survival, while age above 65 years was not statistically significant. In a multivariate model, only the absence of distant metastasis remained significant, with an adjusted odds ratio (OR) of 12.3 (95% confidence interval 1.3-112.1). CONCLUSION: These findings provide valuable insights into the real-world effectiveness of cemiplimab in SCC management.
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INTRODUCTION: Several programmed death ligand-1 (PD1/L1) immune checkpoint inhibitors (ICIs) are approved in urothelial carcinoma (UC). PATIENTS AND METHODS: To address the need for predictors of the efficacy of ICIs in metastatic urothelial carcinoma (mUC), randomized controlled trials of PD1/L1 inhibitors alone or in combination with chemotherapy in this patient population were systematically reviewed, and differences in ICI-associated survival outcomes according to available baseline variables were quantitatively assessed. RESULTS: The quantitative analysis included 6524 patients with mUC. No visceral metastatic site (HR 0.67; 95% CI, 0.76-0.90) and high PDL-1 expression (HR 0.74; 95% CI, 0.640.87) were significantly associated with a reduced risk of death. CONCLUSION: Treatment with an ICI-containing regimen was associated with a reduced risk of death in mUC patients, which was associated with PDL-1 expression and metastatic site. Further research is warranted.
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Carcinoma de Células Transicionales , Neoplasias de la Vejiga Urinaria , Humanos , Carcinoma de Células Transicionales/tratamiento farmacológico , Neoplasias de la Vejiga Urinaria/tratamiento farmacológico , Inhibidores de Puntos de Control Inmunológico/uso terapéuticoRESUMEN
Anti-VEGF (vascular endothelial growth factor) agents were associated with increased risk of several cardiovascular events, while one meta-analysis did not show any significantly increased risk of cardiotoxicity associated with the use of immune checkpoint inhibitors (ICIs). This meta-analysis of randomized-controlled trials (RCTs) was designed to compare cardiovascular toxicity of anti-VEGF agents plus ICI vs anti-VEGF agents without ICIs. A systematic search of the literature was conducted to include all full papers reporting about phase II and III randomized controlled trials (RCTs) conducted in patients with solid malignancies randomized to an anti-VEGF agent plus an ICI vs. an anti-VEGF agent without an ICI. Overall incidences of cardiovascular events were compared between these two treatment groups estimating the corresponding odds ratios. This analysis suggests that ICIs may increase the risk of cardiovascular toxicities associated with anti-VEGF therapies. Further research, including real world studies, is warranted.
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Inhibidores de la Angiogénesis , Neoplasias , Humanos , Inhibidores de la Angiogénesis/efectos adversos , Ranibizumab/efectos adversos , Inhibidores de Puntos de Control Inmunológico/efectos adversos , Factor A de Crecimiento Endotelial Vascular , Neoplasias/tratamiento farmacológico , Cardiotoxicidad/etiología , Ensayos Clínicos Controlados Aleatorios como AsuntoRESUMEN
BACKGROUND/AIM: Lung cancer is one of the most common malignant neoplastic diseases and by far the leading cause of cancer death worldwide. Recently, immune checkpoint inhibitors (ICIs) have received increasing attention for playing a crucial role in non-small cell lung cancer (NSCLC). Biomarkers, such as programmed cell death-ligand 1 (PD-L1) and tumor mutational burden (TMB), seemed to be helpful in selecting patients who are more likely to benefit from ICI treatment: however, their role has not yet been fully clarified. PATIENTS AND METHODS: In this retrospective study, we evaluated the relationship between pre-treatment peripheral blood neutrophil-to-lymphocyte ratio (NLR) and survival in 252 patients suffering from advanced NSCLC who had received pembrolizumab as their first-line immunotherapy. RESULTS: Compared to their NLR low counterparts who had a median overall survival (OS) of 34.8 months, patients with NLRs above 4.8 had a median OS of 7.6 months (HR=3.26, 95%Cl=2.3-4.6, p-value<0.0000001). In multivariate Cox regression analysis, alongside other variables, such as metastatic sites, age, and sex, NLR and PD-L1 predicted progression-free survival and OS; furthermore, a very high NLR - over 10 - seemed to forecast a very dismal prognosis in patients undergoing immunotherapy, with sudden deaths in the days immediately following therapy (median OS=3.8 months). CONCLUSION: NLR acts as a valuable and reliable prognostic factor in non-small cell lung carcinoma patients undergoing first line immunotherapy with pembrolizumab. Additional investigation is necessary to fully elucidate the underlying biological rationale, which can be found in myeloid derived suppressor cells, a heterogeneous population of cells with neutrophil-like immunophenotypic features.
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The objective of the current research was to explore the potential prognostic value of readily available clinical and pathologic variables in bladder cancer. The novel association found between cholesterol levels and prognosis may provide the rationale for exploring novel treatments. Patients included had histologically confirmed urothelial bladder cancer and were treated with at least 3 cycles of cisplatin-based neoadjuvant chemotherapy before radical cystectomy with lymphadenectomy. A total of 245 patients at low, intermediate and high risk, presenting with 0-1, 2 or 3-4 risk factors, including positive lymph nodes, Hb <12.8, NLR ≥2.7 and cholesterol levels ≥199, were included. Five-year cancer-specific survival rate was 0.67, 0.78 and 0.94 at high, intermediate and low risk, respectively. Total cholesterol levels at the time of cystectomy may represent a commonly assessable prognostic factor and may be incorporated in a clinically meaningful risk-group classification model.
Lay abstract This present study assessed a large group of patients with urothelial bladder cancer treated with chemotherapy followed by radical cystectomy, to capture the predictive power of commonly collected clinical, pathological and biochemical factors. The design of the study highlighted that higher cholesterol levels at the time of cystectomy were associated with shorter cancer-specific survival. This finding suggests that high blood-cholesterol levels truly have a negative influence on surviving cancer. In conclusion, total cholesterol levels at the time of cystectomy may represent a commonly assessable prognostic factor and could be incorporated into a clinically meaningful and valuable risk-group classification model.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias de la Vejiga Urinaria/tratamiento farmacológico , Anciano , Quimioterapia Adyuvante , Colesterol/sangre , Cisplatino/administración & dosificación , Cistectomía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Neoplasias de la Vejiga Urinaria/mortalidadRESUMEN
Abstract Introduction: Bartter's syndrome comprises a heterogeneous group of inherited salt-losing tubulopathies. There are two forms of clinical presentation: classical and neonatal, the most severe type. Types I and II account for most of the neonatal cases. Types III and V are usually less severe. Characteristically Bartter's syndrome type IV is a saltlosing nephropathy with mild to severe neonatal symptoms, with a specific feature - sensorineural deafness. Bartter's syndrome type IV is the least common of all recessive types of the disease. Description: the first reported case of a Portuguese child with neurosensorial deafness, polyuria, polydipsia and failure to thrive, born prematurely due to severe polyhydramnios, with the G47R mutation in the BSND gene that causes Bartter's syndrome type IV. Discussion: there are few published cases of BS type IV due to this mutation and those reported mostly have moderate clinical manifestations which begin later in life. The poor phenotype-genotype relationship combined with the rarity of this syndrome usually precludes an antenatal diagnosis. In the presence of a severe polyhydramnios case, with no fetal malformation detected, normal karyotype and after maternal disease exclusion, autosomal recessive diseases, including tubulopathies, should always be suspected.
Resumo Introdução: a síndrome de Bartter inclui um grupo heterogéneo de tubulopatias hereditárias perdedoras de sal. Existem duas formas de apresentação clínica: clássica e neonatal, a forma mais grave. Os tipo I e II representam a maioria dos casos neonatais. Os tipos III e V são geralmente menos graves. Caracteristicamente, a síndrome de Bartter tipo IV é uma nefropatia perdedora de sal com sintomas neonatais ligeiros a graves, com um aspeto especí- fico - surdez neurossensorial. A síndrome de Bartter tipo IV é o tipo menos comum das formas recessivas da doença. Descrição: relatamos o primeiro caso de uma criança portuguesa, com surdez neurossensorial, poliúria, polidipsia e restrição de crescimento, nascida prematuramente devido a polihidrâmnios grave, homozigótica para a mutação G47R do gene BSND, responsável pela síndrome de Bartter tipo IV. Discussão: são raros os casos publicados sobre síndrome de Bartter tipo IV atribuída a esta mutação, e a maioria referem-se a diagnósticos mais tardios, com manifestações clínicas ligeiras. A fraca correlação fenótipo-genótipo combinada com a raridade desta síndrome tornam o diagnóstico pré-natal desafiante. Perante um caso de polihidrâmnios grave em um feto sem malformações aparentes, cariótipo normal e após exclusão de patologia materna, as doenças autossómicas recessivas, incluindo as tubulopatias, devem ser sempre consideradas.
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Humanos , Femenino , Embarazo , Recién Nacido , Adulto , Diagnóstico Prenatal , Síndrome de Bartter/fisiopatología , Síndrome de Bartter/genética , Polihidramnios/diagnóstico , Polihidramnios/etiología , Complicaciones del Embarazo , Tercer Trimestre del Embarazo , Pérdida Auditiva Sensorineural/genética , Trabajo de Parto PrematuroRESUMEN
INTRODUCTION: Metastatic castration-resistant prostate cancer (mCRPC) is a deadly disease. Enzalutamide is an oral second-generation anti-androgen that is active in mCRPC. Circulating tumor cells (CTC) count correlates with overall survival (OS) in mCRPC, whereas detection of the androgen-receptor splice variant 7 (AR-V7) in CTC predicts poor response to oral second-generation anti-androgens. Also, loss of PTEN (phosphatase and tensin homolog) in CTC is a biomarker of poor prognosis in mCRPC. PATIENTS AND METHODS: In this translational study, we employed flow cytometry to assess total, PTEN-, and AR-V7+ CTC count per 7.5 mL of whole blood in a prospective cohort of patients with mCRPC receiving enzalutamide. RESULTS: CTCs were assessed in a total of 45 men with mCRPC at baseline and at 12 weeks. Overall, CTC, PTEN- CTC, and AR-V7+ CTC detection rate was high, at baseline, with 84.4%, 71.1%, and 51.1% of samples showing at least 1 cell/7.5-mL blood, respectively, and after 3 months, with 93.3%, 64.4%, and 77.7% of samples showing at least 1 cell/7.5-mL blood, respectively. Median radiographic progression-free survival (rPFS) and OS were 6 (95% confidence interval [CI], 5.6-9) and 14.3 (95% CI, 12.8-20.3) months, respectively. Median (interquartile range) total CTC count at baseline was 5 (3; 8), whereas median (interquartile range) PTEN- CTC count was 2 (0; 4) and median (interquartile range) AR-V7+ CTC count was 1 (0; 3). At baseline, ≥ 5 versus < 5 total CTC count was associated with worse rPFS (hazard ratio [HR], 2.35; 95% CI, 1.14-4.84; P= .021) and OS (HR, 3.08; 95% CI, 1.45-6.54; P = .003), whereas ≥ 2 versus < 2 PTEN- CTC count was associated with worse rPFS (HR, 3.96; 95% CI, 1.8-8.72; P= .001) and OS (HR, 2.36; 95% CI, 1.12-5; P= .025). Finally, ≥ 1 versus < 1 AR-V7+ CTC count was also associated with worse rPFS (HR, 5.05; 95% CI, 2.4-10.64; P< .001) and OS (HR, 2.25; 95% CI, 1.1-4.58; P= .026). CONCLUSIONS: Despite multiple limitations, including the small sample size, our preliminary study suggests that assessment of CTC via flow cytometry may provide potentially useful prognostic and predictive information in advanced prostate cancer. Further studies are warranted. Micro-Abstract: In this study, men with metastatic castration-resistant prostate cancer, scheduled to start enzalutamide, were assessed for circulating tumor cell count and molecular characterization (total, PTEN-, and AR-V7+ circulating tumor cell count) by the use of flow cytometry. We found that flow cytometry could be used to enumerate circulating tumor cells, but also to assess molecular biomarkers on their surface.
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Células Neoplásicas Circulantes , Neoplasias de la Próstata Resistentes a la Castración , Benzamidas , Biomarcadores de Tumor , Citometría de Flujo , Humanos , Masculino , Nitrilos , Fosfohidrolasa PTEN/genética , Feniltiohidantoína , Estudios Prospectivos , Neoplasias de la Próstata Resistentes a la Castración/tratamiento farmacológico , Isoformas de Proteínas , Receptores AndrogénicosRESUMEN
BACKGROUND: Three or four cycles of cisplatin-based chemotherapy is the standard neoadjuvant treatment prior to cystectomy in patients with muscle-invasive bladder cancer. Although NCCN guidelines recommend 4 cycles of cisplatin-gemcitabine, three cycles are also commonly administered in clinical practice. In this multicenter retrospective study, we assessed a large and homogenous cohort of patients with urothelial bladder cancer (UBC) treated with three or four cycles of neoadjuvant cisplatin-gemcitabine followed by radical cystectomy, in order to explore whether three vs. four cycles were associated with different outcomes. METHODS: Patients with histologically confirmed muscle-invasive UBC included in this retrospective study had to be treated with either 3 (cohort A) or 4 (cohort B) cycles of cisplatin-gemcitabine as neoadjuvant therapy before undergoing radical cystectomy with lymphadenectomy. Outcomes including pathologic downstaging to non-muscle invasive disease, pathologic complete response (defined as absence of disease -ypT0), overall- and cancer-specific- survival as well as time to recurrence were compared between cohorts A vs. B. RESULTS: A total of 219 patients treated at 14 different high-volume Institutions were included in this retrospective study. Patients who received 3 (cohort A) vs. 4 (cohort B) cycles of neoadjuvant cisplatin-gemcitabine were 160 (73,1%) vs. 59 (26,9%).At univariate analysis, the number of neoadjuvant cycles was not associated with either pathologic complete response, pathologic downstaging, time to recurrence, cancer specific, and overall survival. Of note, patients in cohort B vs. A showed a worse non-cancer specific overall survival at univariate analysis (HR= 2.53; 95 CI= 1.05 - 6.10; p=0.046), although this finding was not confirmed at multivariate analysis. CONCLUSIONS: Our findings suggest that 3 cycles of cisplatin-gemcitabine may be equally effective, with less long-term toxicity, compared to 4 cycles in the neoadjuvant setting.
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Although both docetaxel and androgen-receptor-axis-targeted (ARAT) agents have yielded survival improvements in combination with androgen deprivation therapy (ADT) compared to ADT alone in metastatic castration-sensitive prostate cancer (mCSPC) patients, the optimal therapeutic choice remains to be established. We analyzed estimates of the hazard ratios for death (OS-HRs) in patients treated in the first-line setting enrolled in the GETUG-AFU15, CHAARTED, STAMPEDE, LATITUDE, ENZAMET, and TITAN trials. Overall, men with mCSPC receiving ADT with vs. without either an ARAT agent or docetaxel as first-line systemic therapy showed a pooled OS-HR of 0.69 (95 % CI: 0.61-0.78), with significant heterogeneity (p = 0.045, I2 = 52.5 %). Network meta-analysis showed an OS-HR in patients receiving an ARAT agent vs. docetaxel of 0.78 (95 %CI: 0.67-0.91). In conclusion, the evidence analysed indicates that an ARAT agent may provide improved OS outcomes compared to docetaxel. Prospective randomized trials are warranted.
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Neoplasias de la Próstata Resistentes a la Castración , Neoplasias de la Próstata , Antagonistas de Andrógenos , Castración , Docetaxel/uso terapéutico , Humanos , Masculino , Estudios Prospectivos , Neoplasias de la Próstata/tratamiento farmacológico , Neoplasias de la Próstata Resistentes a la Castración/tratamiento farmacológicoRESUMEN
BACKGROUND: Both docetaxel and androgen-receptor-axis-targeted (ARAT) agents are approved in metastatic castration-sensitive prostate cancer (mCSPC) patients. Predictive factors of therapy efficacy are lacking. METHODS: We included articles reporting data about randomized-controlled clinical trials (RCTs) testing an ARAT agent plus ADT vs. ADT. We aimed to obtain pooled estimates of efficacy outcomes and assess differences in pooled estimates of efficacy outcomes between sub-groups. RESULTS: A total of 5427 mCSPC patients enrolled in five RCTs were evaluable for OS (Overall Survival) and PFS (Progression-free survival). Pooled OS-HR (Hazard Ratio) was 0.66 (95 % CI: 0.60-0.74), while pooled PFS-HR was 0.46 (95 % CI: 0.40-0.53). Combined treatment with docetaxel was associated with differential OS outcomes, while tumor volume according to the CHAARTED criteria and visceral metastasis were associated with differential PFS outcomes. CONCLUSION: Our results add evidence that ARAT agents improve OS in mCSPC and discourage their combined use with docetaxel in this setting.
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Antagonistas de Andrógenos/uso terapéutico , Docetaxel/uso terapéutico , Neoplasias de la Próstata Resistentes a la Castración/tratamiento farmacológico , Neoplasias de la Próstata/tratamiento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica , Castración , Supervivencia sin Enfermedad , Humanos , Masculino , Neoplasias de la Próstata/patología , Neoplasias de la Próstata Resistentes a la Castración/patología , Ensayos Clínicos Controlados Aleatorios como Asunto , Resultado del TratamientoRESUMEN
: Immunotherapy based on anti PD-1/PD-L1 inhibitors has proven to be more effective than sunitinib in the first-line setting of advanced renal cell carcinoma (RCC). RCC patients with sarcomatoid histology (sRCC) have a poor prognosis and limited therapeutic options. We performed a systematic review and a meta-analysis of randomized-controlled trials (RCTs) of first-line anti PD-1/PDL-1 agents vs. sunitinib, presenting efficacy data in the sub-group of sRCC patients. The systematic research was conducted on Google Scholar, Cochrane Library, PubMed and Embase and updated until 31th January, 2020. Abstracts from ESMO and ASCO (2010-2019) were also reviewed. Full texts and abstracts reporting about RCTs testing first-line anti-PD-1/ PD-L1 agents vs. sunitinib in RCC were included if sRCC sub-group analyses of either PFS (progression-free survival), OS (overall survival) or radiological response rate were available. Pooled data from 3814 RCC patients in the ITT (intention-to-treat) population and from 512 sRCC patients were included in the quantitative synthesis. In the sRCC sub-group vs. the ITT population, pooled estimates of the PFS-HRs were 0.57 (95%: 0.45-0.74) vs. 0.79 (95% CI: 0.70-0.89), respectively, with a statistically meaningful interaction favoring the sRCC sub-group (pooled ratio of the PFS-HRs = 0.64; 95% CI: 0.50-0.82; p < 0.001). Pooled estimates of the difference in CR-R (complete response-rate) achieved with anti-PD-1/PDL-1 agents vs. sunitinib were + 0.10 (95% CI: 0.04-0.16) vs. + 0.04 (95% CI: 0.00-0.07) in the sRCC vs. the non-sRCC sub groups, with a statistically meaningful difference of + 0.06 (95% CI: 0.02-0.10; p = 0.007) favoring the sRCC sub-group. Sarcomatoid histology may be associated with improved efficacy of anti PD-1/PDL-1 agents vs. sunitinib in terms of PFS and CR-R.
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Bladder cancer is a major cause of cancer-related mortality, with an estimated 74,000 new cases and 16,000 deaths in the United States in 2015. In patients with metastatic disease, vinflunine and taxanes are the most widely used chemotherapy agents in the second-line setting after failure of platinum-based treatment. Cyclophosphamide has been used in combination with paclitaxel in urothelial carcinoma of the bladder, but there are no data about the effectiveness of cyclophosphamide administered as a single agent.We here describe the first case of an advanced bladder cancer patient suffering from grade 2 fatigue.He benefited from administration of third-line single-agent metronomic oral cyclophosphamide plus oral doses of quercetin. A complete, prolonged radiologic response according to the RECIST criteria 1.1 was achieved with minimal toxicity and an improvement in fatigue.Further studies are required to assess the potential benefits associated with the combined use of cyclophosphamide plus quercetin in advanced bladder cancer patients.
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Antineoplásicos Alquilantes/uso terapéutico , Antioxidantes/uso terapéutico , Carcinoma de Células Transicionales/tratamiento farmacológico , Ciclofosfamida/uso terapéutico , Quercetina/uso terapéutico , Neoplasias de la Vejiga Urinaria/tratamiento farmacológico , Carcinoma de Células Transicionales/complicaciones , Quimioterapia Combinada , Fatiga/tratamiento farmacológico , Fatiga/epidemiología , Fatiga/etiología , Humanos , Masculino , Metástasis de la Neoplasia , Neoplasias de la Vejiga Urinaria/complicacionesRESUMEN
PURPOSE: To determine the feasibility of evaluation of the right subclavian artery during the first trimester ultrasound scan, as well as to describe the technique for its evaluation and, in case of aberrant right subclavian artery (ARSA) identification, to determine its association with chromosomal abnormalities and/or cardiac malformations and its management. METHODS: A prospective study for evaluation of the right subclavian artery during the first trimester ultrasound scan (crown-to-rump length between 45 and 84 mm), in all consecutive single pregnancies, by a single examiner, using a Voluson E8 system (GE Healthcare, Zipf, Austria) with a 2 to 8 MHz RAB 4-8-D transabdominal probe, within a short period of time (less than 2 minutes), in a general low risk population. Color and/or power Doppler flow mapping was used to classify the right subclavian artery as normal or aberrant. Regression analysis with the IBM SPSS Statistics software for Windows, version 20.0 was used to determine the significance of the association between failure to examine/classify the right subclavian artery and both fetal crown-rump length and maternal body mass index. RESULTS: Median maternal age was 30 years (range: 17-43 years) and median gestational age at the time of evaluation of the right subclavian artery was 12 weeks (range: 11-13 weeks). The evaluation of the right subclavian artery was successful in 138/176 (78.4%) of the cases. ARSA was diagnosed in a single case (0.7%). This fetus with ARSA also presented a hyperechogenic focus on the left cardiac ventricle. Fetal echocardiography at 16 weeks of gestation was performed and confirmed ARSA and the hyperechogenic focus. Amniocentesis revealed a normal 46, XX karyotype. CONCLUSION: ARSA can be identified during a routine first trimester ultrasound scan. Our single ARSA case had a normal karyotype and no associated cardiac malformations.
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Arteria Subclavia/anomalías , Arteria Subclavia/diagnóstico por imagen , Ultrasonografía Prenatal , Adolescente , Adulto , Aberraciones Cromosómicas , Estudios de Factibilidad , Femenino , Humanos , Embarazo , Primer Trimestre del Embarazo , Estudios Prospectivos , Adulto JovenRESUMEN
OBJETIVO: Avaliar a artéria subclávia direita durante a ecografia do primeiro trimestre, descrever a técnica para a sua avaliação e, em caso de identificação de artéria subclávia direita aberrante (ARSA), determinar sua associação com alterações cromossómicas e/ou malformações cardíacas e sua orientação. MÉTODOS: Estudo prospectivo que consistiu na avaliação da artéria subclávia direita no primeiro trimestre (comprimento crânio caudal entre 45 e 84 milímetros), em todas as gestações únicas, consecutivas, por um único examinador, ecógrafo Voluson E8 (GE Healthcare, Zipf, Áustria) com sonda transabdominal RAB 4-8-D, 2 a 8 MHz, por um período não superior a 2 minutos, numa população geral de baixo risco. Com a ajuda do power/color Doppler, a artéria subclávia direita foi classificada como normal ou aberrante. Foi utilizada análise de regressão estatística (IBM SPSS Statistics for Windows, versão 20.0) para estudar o grau de associação entre a falha na avaliação/classificação da artéria subclávia direita e o comprimento crânio-caudal fetal e o índice de massa corporal materno. RESULTADOS: A mediana da idade materna foi de 30 anos (variando entre 17 e 43 anos) e a mediana do tempo de gestação no momento da avaliação da artéria subclávia direita foi de 12 semanas de gestação (variando entre 11 e 13 semanas de gestação). A avaliação da artéria subclávia direita foi possível em 138/176 (78,4%) dos casos. ARSA foi diagnosticada em um único caso (0,7%). Esse feto com ARSA também apresentou um foco hiperecogênico no ventrículo cardíaco esquerdo. Foi realizada ecocardiografia fetal às 16 semanas de gestação, que confirmou o diagnóstico de ARSA e foco hiperecogênico. A amniocentese revelou cariótipo normal, 46, XX. CONCLUSÃO: É possível fazer o diagnóstico de ARSA na ecografia do primeiro trimestre. O nosso único caso de ARSA apresentou um cariótipo normal sem malformações cardíacas associadas. .
PURPOSE: To determine the feasibility of evaluation of the right subclavian artery during the first trimester ultrasound scan, as well as to describe the technique for its evaluation and, in case of aberrant right subclavian artery (ARSA) identification, to determine its association with chromosomal abnormalities and/or cardiac malformations and its management. METHODS: A prospective study for evaluation of the right subclavian artery during the first trimester ultrasound scan (crown-to-rump length between 45 and 84 mm), in all consecutive single pregnancies, by a single examiner, using a Voluson E8 system (GE Healthcare, Zipf, Austria) with a 2 to 8 MHz RAB 4-8-D transabdominal probe, within a short period of time (less than 2 minutes), in a general low risk population. Color and/or power Doppler flow mapping was used to classify the right subclavian artery as normal or aberrant. Regression analysis with the IBM SPSS Statistics software for Windows, version 20.0 was used to determine the significance of the association between failure to examine/classify the right subclavian artery and both fetal crown-rump length and maternal body mass index. RESULTS : Median maternal age was 30 years (range: 17-43 years) and median gestational age at the time of evaluation of the right subclavian artery was 12 weeks (range: 11-13 weeks). The evaluation of the right subclavian artery was successful in 138/176 (78.4%) of the cases. ARSA was diagnosed in a single case (0.7%). This fetus with ARSA also presented a hyperechogenic focus on the left cardiac ventricle. Fetal echocardiography at 16 weeks of gestation was performed and confirmed ARSA and the hyperechogenic focus. Amniocentesis revealed a normal 46, XX karyotype. CONCLUSION: ARSA can be identified during a routine first trimester ultrasound scan. Our single ARSA case had a normal karyotype and no associated cardiac malformations. .