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PURPOSE: Ectopic adrenal cortical adenoma in the spinal region is extremely rare. The majority of cases of ectopic adrenocortical tissue are found along the path of embryonic migration within the urogenital tract. Beckwith-Wiedemann syndrome (BWS) is a pediatric overgrowth disorder involving a predisposition to tumor development, including adrenal lesions. To date, only eight spinal cases have been reported. This is the third reported case in pediatric population, the first one associated with genetic syndrome and the first benign to recur. We review the current literature on this topic. CASE DESCRIPTION: We present a 2-year-old boy affected by Beckwith-Wiedemann syndrome who developed a tumor at L4-L5 level. He underwent a gross total resection with MRI post-surgery demonstrating non-residual tumor. Histology disclosed an ectopic adrenal cortical adenoma with oncocytic features. Immunohistochemically was positive for inhibin-alpha, synaptophysin, and melan-A. It was negative for chromogranin A, GFAP, S-100, and other markers. One year later, he developed a recurrence at the same level being necessary a second surgery leaving a small sheet of residual tumor. CONCLUSION: Spinal adrenocortical adenomas are exceptional, and its behavior could be related to other conditions such as BWS. Gross total resection can be curative but a tight follow-up is needed. Immunohistochemical studies that include inhibin-alpha, synaptophysin, and melan-A can be useful in differential diagnosis as ultrastructural study. The decision on how to treat these patients is difficult given the low number of cases.
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Neoplasias do Córtex Suprarrenal/diagnóstico por imagem , Adenoma Adrenocortical/diagnóstico por imagem , Síndrome de Beckwith-Wiedemann/diagnóstico por imagem , Neoplasias da Coluna Vertebral/diagnóstico por imagem , Neoplasias do Córtex Suprarrenal/complicações , Neoplasias do Córtex Suprarrenal/cirurgia , Adenoma Adrenocortical/complicações , Adenoma Adrenocortical/cirurgia , Síndrome de Beckwith-Wiedemann/complicações , Síndrome de Beckwith-Wiedemann/cirurgia , Pré-Escolar , Humanos , Masculino , Neoplasias da Coluna Vertebral/complicações , Neoplasias da Coluna Vertebral/cirurgiaRESUMO
Introduction: The vaccines developed against COVID-19 have different modes of action, with a primary focus on the spike protein of the virus. Adverse effects following vaccination have been reported, including local and systemic symptoms. Understanding the potential side effects on the urinary tract after vaccination is of importance. Actively investigating and comprehending the potential impact on the urinary tract, we can enhance public health strategies and pave the way for safer and more effective vaccination programs. Methodology: The study was based on an online survey that included the Spanish Version of the Overactive Bladder Symptom Score (OABSS-S); 2,362 men and women replied to the survey. After the application of the exclusion criteria, 1,563 participants were insured. In the context of COVID-19, individuals were questioned regarding several key factors related to their vaccination status and medical history. These factors included the number of vaccine doses received, the specific type of vaccine administered, whether they had previously contracted COVID-19, and the frequency of prior infections, if applicable. Results: A total of 1,563 (74.7% women and 27.3% men) subjects between the ages of 18 and 45 completed the survey and were included in the final analyses. The most frequently administered vaccine type was Pfizer-BioNTech (42.2%), and most subjects received three doses. The proportion of females who received the AstraZeneca vaccine and do not require to urinate during the night is significantly higher compared to males (59.1% vs. 33.3%; p<0.05). The proportion of individuals who urinate five or more times during the night is higher in those who have received a single vaccine dose than in those who have received three doses (2.2% vs. 0.1%; p<0.05). Conclusion: COVID-19 vaccination has been found to impact the lower urinary tract (LUT) and overactive bladder (OAB). Initially, LUT symptoms worsened, and OABSS-S scores increased after the first vaccine dose in individuals under 45 years old. However, symptoms improved after receiving the third and fourth doses. Gender differences were observed in the vaccination effects. Men vaccinated with AstraZeneca reported a higher number of nighttime voids, while women vaccinated with Moderna reported more daytime voids.
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INTRODUCTION: Stress is characterized as a challenging occurrence that triggers a physiological and/or behavioral allostatic response, alongside the demands typically encountered throughout the natural course of life. A sustained state of stress gives rise to secondary effects, including insomnia and neck pain. Also, the risk of musculoskeletal problems in the cervical and lumbar spine can be increased due to a sustained state of stress. The present study main objective is to study the association between orofacial and pelvic floor muscles in women in Spain. METHODOLOGY: An observational, cross-sectional, retrospective analytical study was designed and carried out in the laboratories of the European University of Madrid. Sixty-five participants were recruited with a mean age of 29.9 ± 7.69. Measurements were taken by myotonometry on natural oscillation frequency (Hz), dynamic stiffness (N/m), elasticity (N/m2), mechanical stress relaxation time (ms) and creep, for the following muscles: right and left masseter, right and left temporalis and central fibrous nucleus of the perineum (CFPF). On the other hand, the subjects completed the following questionnaires: perceived stress scale (PSS-14), anxiety scale (STAI), self-reported bruxism questionnaire (CBA), Fonseca Anamnestic Index and the Pittsburgh Sleep Quality Scale (PSQI). RESULTS: Significant correlations were found in several parameters between the right temporalis and CFPF (p<0.05). Highlighting the correlation between TMDs and lubrication r = -0.254 (p = 0.041) and bruxism with pain in sexual intercourse r = 0.261 (p = 0.036). CONCLUSION: The results support the proposed hypothesis. To the author's knowledge, this is the first study which relates both locations, and it is suggested to continue with the research and expand the knowledge of it.
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Bruxismo , Distúrbios do Assoalho Pélvico , Testes Psicológicos , Autorrelato , Humanos , Feminino , Adulto Jovem , Adulto , Bruxismo/epidemiologia , Estudos Transversais , Estudos RetrospectivosRESUMO
Introduction: Air pollution has a significant impact on the morbidity and mortality of various respiratory diseases. However, this has not been widely studied in diffuse interstitial lung diseases, specifically in idiopathic pulmonary fibrosis. Objective: In this study we aimed to assess the relationship between four major air pollutants individually [carbon monoxide (CO), nitrogen dioxide (NO2), ozone (O3), and nitrogen oxides (NOx)] and the development of chronic respiratory failure, hospitalization due to respiratory causes and mortality in patients with idiopathic pulmonary fibrosis. Methods: We conducted an exploratory retrospective panel study from 2011 to 2020 in 69 patients with idiopathic pulmonary fibrosis from the pulmonary medicine department of a tertiary hospital. Based on their geocoded residential address, levels of each pollutant were estimated 1, 3, 6, 12, and 36 months prior to each event (chronic respiratory failure, hospital admission and mortality). Data was collected from the air quality monitoring stations of the Community of Madrid located <3.5 km (2.2 miles) from each patient's home. Results: The increase in average values of CO [OR 1.62 (1.11-2.36) and OR 1.84 (1.1-3.06)], NO2 [OR 1.64 (1.01-2.66)], and NOx [OR 1.11 (1-1.23) and OR 1.19 (1.03-1.38)] were significantly associated with the probability of developing chronic respiratory failure in different periods. In addition, the averages of NO2, O3, and NOx were significantly associated with the probability of hospital admissions due to respiratory causes and mortality in these patients. Conclusion: Air pollution is associated with an increase in the probability of developing chronic respiratory failure, hospitalization due to respiratory causes and mortality in patients with idiopathic pulmonary fibrosis.
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Poluição do Ar , Fibrose Pulmonar Idiopática , Insuficiência Respiratória , Humanos , Estudos Retrospectivos , Dióxido de Nitrogênio/análise , Poluição do Ar/efeitos adversos , Poluição do Ar/análise , HospitalizaçãoRESUMO
Introduction: Major urban pollutants have a considerable influence on the natural history of lung disease. However, this effect is not well known in idiopathic pulmonary fibrosis (IPF). Aim: This study aimed to investigate the effects of air pollution on clinical worsening, lung function, and radiological deterioration in patients with IPF. Methods: This exploratory retrospective cohort study included 69 patients with IPF, monitored from 2011 to 2020. Data on air pollution levels, including carbon monoxide (CO), nitrogen dioxide (NO2), particulate matter ≤ 2.5 µM (PM2.5), ozone (O3), and nitrogen oxides (NOx), were collected from the nearest air quality monitoring stations (<3.5 km from the patients' homes). Patient outcomes such as clinical worsening, lung function decline, and radiological deterioration were assessed over various exposure periods (1, 3, 6, 12, and 36 months). The statistical analyses were adjusted for various factors, including age, sex, smoking status, and treatment. Results: There was an association between higher O3 levels and an increased likelihood of clinical worsening over 6 and 36 months of exposure (odds ratio [OR] and 95% confidence interval [CI] = 1.16 [1.01-1.33] and OR and 95% CI = 1.80 [1.07-3.01], respectively). Increased CO levels were linked to lung function decline over 12-month exposure periods (OR and 95% CI 1.63 = [1.01-2.63]). Lastly, radiological deterioration was significantly associated with higher CO, NO2, and NOx levels over 6-month exposure periods (OR and 95% CI = 2.14 [1.33-3.44], OR and 95% CI = 1.76 [1.15-2.66] and OR and 95% CI = 1.16 [1.03-1.3], respectively). Conclusion: This study suggests that air pollution, specifically O3, CO, NO2, and NOx, could affect clinical worsening, lung function, and radiological outcomes in patients with IPF. These findings highlight the potential role of air pollution in the progression of IPF, emphasizing the need for further research and air quality control measures to mitigate its effects on respiratory health.
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Poluição do Ar , Fibrose Pulmonar Idiopática , Humanos , Dióxido de Nitrogênio/efeitos adversos , Estudos Retrospectivos , Poluição do Ar/efeitos adversos , Pulmão/diagnóstico por imagemRESUMO
Introduction: The purpose of this study was to delve more deeply into the medium and long-term relation between mRNA-based vaccines and changes in menstrual pain, cycle length, and amount of bleeding in Spanish women. Material and Methods: A total of 746 women (63% between 18−30 and 37% between 31−45 years old) participated in the study. A numerical rating scale was used for recording pain intensity, a pictorial chart for menstrual bleeding, and data from menstrual cycle duration, type of vaccine, number of doses and time from vaccination. Results: Sixty-five per cent of the women perceived changes in their menstrual cycle after receiving the vaccines, irrespective of type of vaccine or number of doses; all p values were >0.05. Most of them (n = 316 out of 484) reported more than one alteration in their menstrual cycle. Almost half of the participants had been vaccinated over 5 months (45%), 3−4 months (15%) 2−3 months (26%), and one month or less (13%) before. The percentage of women that reported alterations remained strongly constant across time, p > 0.05, ranging from 64 to 65%. Conclusions: Reported alterations in Spanish women after COVID vaccination remained more than 5 months after the last dose.
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During the last decades, the number of patients with long stay admissions (LSA) in PICU has increased. The purpose of this study was to identify factors associated with PICU LSA, assessing healthcare resources use and changes in the profile of these patients. A retrospective, observational, single-center study was carried out. Characteristics of LSA were compared between two periods (2006-2010 and 2011-2015). During the earlier period there were 2,118 admissions (3.9% of them LSA), whereas during the second period, there were 1,763 (5.4% of them LSA) (p = 0.025). LSA accounted for 33.7% PICU stay days during the first period and 46.7% during the second (p < 0.001). Higher use of non-invasive ventilation (80.2% vs. 37.8%, p = 0.001) and high-flow oxygen therapy (68.8% vs. 37.8%, p = 0.005) was observed in the 2011-2015 cohort, whereas the use of arterial catheter (77.1% vs. 92.6%, p = 0.005), continuous infusion of adrenaline (55.2% vs. 75.9%, p = 0.004), and hemoderivative transfusion (74% vs. 89.2%, p = 0.010) was less frequent. In the 2006-2010 cohort, hospital-acquired infections were more common (95.2% vs. 68.8%, p < 0.001) and mortality was higher (26.8% vs. 13.8%, p = 0.026). The number of long-stay PICU admissions have increased entailing an intensive use of healthcare resources. These patients have a high risk for complications and mortality.
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Unidades de Terapia Intensiva , Tempo de Internação , Criança , Estudos de Coortes , HumanosRESUMO
X-linked myotubular myopathy (XLMTM; OMIM 310400) is a centronuclear congenital muscular disorder of X-linked recessive inheritance. Although female carriers are typically asymptomatic, affected heterozygous females have been described. Here, we describe the case of a sporadic female patient with suspicion of centronuclear myopathy and a heterozygous large deletion at Xq28 encompassing the MAMLD1, MTM1, MTMR1, CD99L2, and HMGB3 genes. The deletion was first detected using a custom next generation sequencing (NGS)-based multigene panel and finally characterized by comparative genomic hybridization array and multiplex ligation probe assay techniques. In this patient we have confirmed, by MTM1 mRNA quantification, a MTM1 gene expression less than the expected 50 percent in patient muscle. The significant 20% reduction in MTM1 mRNA expression in muscle, precludes low level of the normal myotubularin protein as the cause of the phenotype in this heterozygous female. We have also found that BIN1 expression in patient muscle biopsy was significantly increased, and postulate that BIN1 expression will be increased in XLMTM patient muscle as an attempt to maintain muscle function.
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Proteínas Adaptadoras de Transdução de Sinal/genética , Deleção Cromossômica , Miopatias Congênitas Estruturais/genética , Proteínas Nucleares/genética , Proteínas Tirosina Fosfatases não Receptoras/genética , Proteínas Supressoras de Tumor/genética , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Adolescente , Cromossomos Humanos X/genética , Feminino , Heterozigoto , Humanos , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Miopatias Congênitas Estruturais/metabolismo , Miopatias Congênitas Estruturais/patologia , Proteínas Nucleares/metabolismo , Proteínas Tirosina Fosfatases não Receptoras/metabolismo , Proteínas Supressoras de Tumor/metabolismoRESUMO
BACKGROUND: The promoter hypermethylation of the methylguanine-DNA methyltransferase gene is a frequently used biomarker in daily clinical practice as it is associated with a favorable prognosis in glioblastoma patients treated with temozolamide. Due to the absence of adequately standardized techniques, international harmonization of the MGMT methylation biomarker is still an unmet clinical need for the diagnosis and treatment of glioblastoma patients. RESULTS: In this study we carried out a clinical validation of a quantitative assay for MGMT methylation detection by comparing a novel quantitative MSP using double-probe (dp_qMSP) with the conventional MSP in 100 FFPE glioblastoma samples. We performed both technologies and established the best cutoff for the identification of positive-methylated samples using the quantitative data obtained from dp_qMSP. Kaplan-Meier curves and ROC time dependent curves were employed for the comparison of both methodologies. CONCLUSIONS: We obtained similar results using both assays in the same cohort of patients, in terms of progression free survival and overall survival according to Kaplan-Meier curves. In addition, the results of ROC(t) curves showed that dp_qMSP increases the area under curve time-dependent in comparison with MSP for predicting progression free survival and overall survival over time. We concluded that dp_qMSP is an alternative methodology compatible with the results obtained with the conventional MSP. Our assay will improve the therapeutic management of glioblastoma patients, being a more sensitive and competitive alternative methodology that ensures the standardization of the MGMT-biomarker making it reliable and suitable for clinical use.
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Biomarcadores Tumorais/genética , Neoplasias Encefálicas/patologia , Glioblastoma/diagnóstico , Glioblastoma/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Antineoplásicos Alquilantes/uso terapêutico , Neoplasias Encefálicas/mortalidade , Estudos de Coortes , Ilhas de CpG , Metilação de DNA , Metilases de Modificação do DNA/genética , Enzimas Reparadoras do DNA/genética , Epigenômica , Feminino , Glioblastoma/tratamento farmacológico , Glioblastoma/cirurgia , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase/métodos , Reação em Cadeia da Polimerase/tendências , Prognóstico , Intervalo Livre de Progressão , Regiões Promotoras Genéticas/genética , Estudos Prospectivos , Curva ROC , Sensibilidade e Especificidade , Temozolomida/uso terapêutico , Proteínas Supressoras de Tumor/genéticaRESUMO
Transcription factor NRF2 orchestrates a cellular defense against oxidative stress and, so far, has been involved in tumor progression by providing a metabolic adaptation to tumorigenic demands and resistance to chemotherapeutics. In this study, we discover that NRF2 also propels tumorigenesis in gliomas and glioblastomas by inducing the expression of the transcriptional co-activator TAZ, a protein of the Hippo signaling pathway that promotes tumor growth. The expression of the genes encoding NRF2 (NFE2L2) and TAZ (WWTR1) showed a positive correlation in 721 gliomas from The Cancer Genome Atlas database. Moreover, NRF2 and TAZ protein levels also correlated in immunohistochemical tissue arrays of glioblastomas. Genetic knock-down of NRF2 decreased, while NRF2 overexpression or chemical activation with sulforaphane, increased TAZ transcript and protein levels. Mechanistically, we identified several NRF2-regulated functional enhancers in the regulatory region of WWTR1. The relevance of the new NRF2/TAZ axis in tumorigenesis was demonstrated in subcutaneous and intracranial grafts. Thus, intracranial inoculation of NRF2-depleted glioma stem cells did not develop tumors as determined by magnetic resonance imaging. Forced TAZ overexpression partly rescued both stem cell growth in neurospheres and tumorigenicity. Hence, NRF2 not only enables tumor cells to be competent to proliferate but it also propels tumorigenesis by activating the TAZ-mediated Hippo transcriptional program.
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Neoplasias Encefálicas/patologia , Glioblastoma/patologia , Fator 2 Relacionado a NF-E2/genética , Fator 2 Relacionado a NF-E2/metabolismo , Transativadores/genética , Animais , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/metabolismo , Linhagem Celular Tumoral , Proliferação de Células , Bases de Dados Genéticas , Feminino , Regulação Neoplásica da Expressão Gênica , Glioblastoma/genética , Glioblastoma/metabolismo , Células HEK293 , Via de Sinalização Hippo , Humanos , Masculino , Camundongos , Transplante de Neoplasias , Proteínas Serina-Treonina Quinases/metabolismo , Transdução de Sinais , Análise Serial de Tecidos , Proteínas com Motivo de Ligação a PDZ com Coativador TranscricionalRESUMO
In a previous report of a new phenotype with predominant scapulo-humeral-peroneal-distal myopathy associated with the Glu197Asp mutation in ACTA1, muscle biopsies did not show nemaline rods, nor could nemaline rods formation be demonstrated in an exhaustive functional in vivo or in vitro study. However, muscle biopsy in members of our family, carrying a similar clinical phenotype of some members of the original family and the same ACTA1 mutation, revealed the presence of numerous nemaline rods, suggesting that there must be other factors that explain the absence of nemaline rods.
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Actinas/genética , Miopatias Distais/patologia , Músculo Esquelético/patologia , Miopatias da Nemalina/patologia , Adulto , Biópsia , Miopatias Distais/diagnóstico , Miopatias Distais/genética , Feminino , Humanos , Mutação/genética , Miopatias da Nemalina/diagnóstico , Miopatias da Nemalina/genética , FenótipoRESUMO
Non-small-cell lung cancer (NSCLC) is the most common malignancy worldwide. Platinum-based chemotherapy is the standard of care for these patients. Recent research showed that miR-7 methylation status is a biomarker of cisplatin resistance in lung and ovarian cancer cells, which is one of the major limitations associated with their clinical management. The aim of the present study is to provide clinical insights associated with this novel potential biomarker in NSCLC patients by comparing the miR-7 methylation status with the cisplatin treatment response. Our results analyzed in 81 samples show that miR-7 methylation is a common event in tumor tissue and it is more frequent as the stage of the disease advances, remaining in 75% of metastatic patients. Tumor miR-7 unmethylation trend to a better PFS in early stages, and when our data was validated in an extended "in silico" cohort of 969 patients we obtained a significant increment in PFS and OS in those patients harboring miR-7 unmethylated (p = 0.010 and p = 0.007 respectively). When we select those early-stages patients harbouring miR-7 methylation, we observed that adenocarcinoma patients present a dramatic decrease in PFS compared with squamous cell carcinoma patients (median 18.9 versus 59.7 months, p = 0.002). In conclusion, our results show that presence of miR-7 methylation in early-stage NSCLC is suggestive of aggressive behavior, especially for adenocarcinoma patients. One major challenge in early diagnosis in NSCLC is identify the subgroup of patients that could benefit for adjuvant therapy, our data establish the basis for epigenetic classification on early-stage NSCLC that could influence treatment decisions in the future.
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OBJECTIVE: The aim of this study was to investigate the role of matrix metalloproteinase (MMP)-9 protein in high-grade malignant tumors of salivary gland origin as well as its utility as a prognostic marker. METHODS: Four micrometer sections from 27 malignant salivary neoplasms were immunostained using a specific antibody against MMP-9. The staining results (proportion of the stained tumor cells and intensity of tumor stainings) were correlated with the clinical data and with patient outcomes. RESULTS: Immunostaining for MMP-9 was observed in 17 cases, predominantly localized in the tumor cells and occasionally in the inflammatory stroma cells. MMP-9 protein expression correlated with N (P = .04), M (P = .02), and TNM stages (P = .03). MMP-9 expression was prognostic for shortened survival (P = .01). Our results show that the invasiveness and prognosis of high-grade salivary gland cancers may depend on their MMP-9 expression profile.
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Carcinoma/genética , Metaloproteinase 9 da Matriz/genética , Neoplasias das Glândulas Salivares/genética , Adulto , Idoso , Carcinoma/imunologia , Carcinoma/patologia , Feminino , Humanos , Imuno-Histoquímica , Masculino , Metaloproteinase 9 da Matriz/imunologia , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Prognóstico , Neoplasias das Glândulas Salivares/imunologia , Neoplasias das Glândulas Salivares/patologia , Células Estromais/imunologia , Células Estromais/patologiaRESUMO
Craniofacial fibrous dysplasia, characteristic of McCune-Albright syndrome (MAS), is usually present in patients with MAS-related acromegaly. We report here the first case of a patient with an undiagnosed MAS presenting with an acute hydrocephalus. A 21-year-old male with gigantism and craniofacial fibrous dysplasia consulted for rapidly progressive headache. An acute obstructive hydrocephalus due to a 39 × 35-mm cystic lesion in the third ventricle was discovered and operated, obtaining hydrocephalus resolution. Pathology described a colloid cyst material and a growth hormone-secreting pituitary adenoma. Genetic study revealed the mosaic GNAS R201H mutation in the pituitary tissue, confirming a MAS diagnosis. Adequate hormonal control was achieved postoperatively. Our results suggest that long-term untreated growth hormone excess in patients with MAS-related craniofacial fibrous dysplasia might end compromising cerebrospinal fluid flow. A prompt diagnosis and coordinated multidisciplinary treatment may help to avoid long-term deleterious impact of hyperfunctioning endocrinopathies in these patients.
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Diagnóstico Tardio , Ossos Faciais/patologia , Displasia Fibrosa Poliostótica/diagnóstico , Gigantismo/etiologia , Cefaleia/etiologia , Hidrocefalia/etiologia , Crânio/patologia , Displasia Fibrosa Poliostótica/complicações , Displasia Fibrosa Poliostótica/patologia , Humanos , Masculino , Adulto JovemRESUMO
The thymus undergoes an age-dependent degenerative process which is mainly characterized by a progressive loss of lymphoid tissue. Thymic involution is particularly important in relation to immunosenescence and its various associated diseases; this fact has prompted many studies aimed at understanding the causes and mechanisms of thymic degeneration which may, ultimately, lead to the possibility of manipulating it. In this sense, one of the aspects which has deserved most attention is the thymic microenvironment, and more precisely, the many growth factors to which the cells present in the organ are exposed. Thus, the levels of several of such factors have been reported to undergo age-dependent changes in the thymus, which may point at an influence on the regression of the organ. In this article we consider which growth factors and growth factor receptors occur in the vertebrate thymus. Then, focusing on those whose influences are better documented, i.e., neurotrophins, cytokines and IGFs, we discuss their potential role in the organ and the possibility of their being involved in thymic involution.
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Envelhecimento/fisiologia , Citocinas/metabolismo , Substâncias de Crescimento/metabolismo , Fatores de Crescimento Neural/metabolismo , Timo/fisiologia , Envelhecimento/imunologia , Animais , Humanos , Camundongos , Timo/citologiaRESUMO
Pulmonary atresia with intact ventricular septum is the complete obstruction of the right ventricular outflow tract due to pulmonary valve atresia in the absence of ventricular septal defect. Pulmonary flow is dependent on the ductus arteriosus. Other morphological anomalies are also present. Aortic stenosis in association with pulmonary atresia with intact ventricular septum is extremely infrequent, and very few cases have been described. We report a 19-year-old primiparous woman in whom the fetal echocardiogram showed pulmonary atresia with intact ventricular septum. The neonate had low oxygen saturation and a systolic murmur originating in the aorta. An echocardiogram showed pulmonary atresia with intact ventricular septum and a bicuspid, thickened, stenotic aortic valve. Low cardiac output ensued and could not be controlled, and the infant died.
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Estenose da Valva Aórtica/diagnóstico , Complicações Cardiovasculares na Gravidez/diagnóstico , Atresia Pulmonar/diagnóstico , Adulto , Estenose da Valva Aórtica/complicações , Feminino , Humanos , Gravidez , Atresia Pulmonar/complicações , Índice de Gravidade de DoençaRESUMO
Lung cancer is currently one of the most common malignancies in the world and peritoneal involvement is rare in these types of tumors. Clinical manifestations of these metastases are also uncommon and include intestinal perforation and obstruction. The present study reviewed certain aspects of the complication of peritoneal involvement and illustrated it with four cases of patients that were diagnosed with primary lung carcinoma and secondary peritoneal carcinomatosis (PC). The outcome of these patients is poor and they rarely respond to chemotherapy. Surgery is successful in the majority of cases.
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BACKGROUND: Squamous cell carcinoma (SCC) is the predominant histological type in men, and adenocarcinoma is the most common subtype in women in the world. The incidence of SCC is decreasing in men, while the incidence of adenocarcinoma (AC) is stable or slightly increasing in western countries. There is active research on the AC subtype but SCC remains poorly studied. CONCLUSIONS: In this review, we have studied different aspects of the SCC subtype, including epidemiology, clinical features, pathology, molecular biology markers, and new therapeutic targets, treatments and prognosis implications.
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Carcinoma de Células Escamosas , Neoplasias Pulmonares , Carcinoma de Células Escamosas/etiologia , Carcinoma de Células Escamosas/mortalidade , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/terapia , Humanos , Neoplasias Pulmonares/etiologia , Neoplasias Pulmonares/mortalidade , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/terapia , PrognósticoRESUMO
We present the case of a patient with a solitary left frontoparietal brain metastasis of melanoma previously treated with surgery. Three months later, the patient was admitted to the emergency room in a confusional state with meningeal signs. A cerebrospinal fluid (CSF) test and magnetic resonance imaging findings suggested a subarachnoid haemorrhage (SAH) and/or meningeal carcinomatosis. The results of a cytological examination of the CSF showed neoplastic epithelial cells consistent with metastatic melanoma cells. Resection of metastatic posterior fossa lesions is often cited as a risk factor for leptomeningeal dissemination, however, when the resection is limited to the anterior fossa, this complication is relatively rare. In contrast, SAH may be a complication of leptomeningeal dissemination and responsible for acute meningeal syndrome. Treatment with high doses of corticoids did not show any improvement, and intrathecal chemotherapy was not possible due to the patient's poor functional status. She succumbed 1 week after admission.