Aortopulmonary window: Clues to fetal diagnosis.
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ABSTRACT:
SUBMITTER: Bhalgat PS
PROVIDER: S-EPMC8174642 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundAortopulmonary window is an uncommon congenital heart disease, with untreated cases not surviving beyond childhood. However, very rarely it can present in adult patients with features of pulmonary hypertension. Clinically these patients cannot be differentiated from other more common conditions with left to right shunt. Transthoracic echocardiography if performed meticulously, can depict the defect in aortopulmonary septum.ResultsWe report a case of large unrepaired aortopulmonary window in a 23 years old patient, diagnosed on transthoracic echocardiography.
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Project description:Patients with polycythemia have an abnormally elevated hemoglobin, hematocrit, and red cell count. It is important to differentiate primary polycythemia from secondary causes since this can affect patient management and prognosis. We report the case of a young male, suspected to have primary polycythemia who was referred for a cardiology opinion after a bone marrow examination was normal and testing for Janus kinase gene mutation was negative. Presence of central cyanosis and clubbing, clinical evidence of severe pulmonary artery hypertension, and significant hypoxemia on arterial blood gas analysis suggested that the polycythemia was secondary to an intracardiac shunt. Transthoracic and contrast echocardiography revealed a large aortopulmonary window with right-to-left shunting. A 64-slice cardiac computed tomography imaging confirmed the diagnosis. In the developing world, it is not uncommon to encounter such unusual cases; careful attention to basic clinical signs and use of multimodality imaging are helpful in establishing the correct diagnosis. <Learning objective: Clinicians should be aware that it is important to distinguish between primary and secondary polycythemia. Although Eisenmenger syndrome is rare in the West, it is not uncommon to encounter such cases in the developing world. Since such patients are polycythemic, they often undergo unnecessary hematological investigations as happened in our case. Careful attention to basic clinical signs and a systematic approach with multimodality imaging were helpful in establishing the diagnosis.>.
| S-EPMC6279648 | biostudies-literature
Project description:ObjectiveAortopulmonary window (APW) is a rare congenital heart defect. It occurs as an isolated cardiac lesion or in association with other cardiac anomalies and rarely with abnormal coronary arteries. The spectrum of cardiovascular anomalies associated with APW and overall management and outcome in the current era were reviewed.MethodsBetween 2001 and 2018, all patients diagnosed with APW were included. Based on associated cardiovascular anomalies, those patients were divided into 2 groups: simple APW group and complex APW group (APW with associated other cardiovascular anomalies). All cases were followed longitudinally. The outcomes are described.ResultTwenty patients underwent APW repair including 2 (10%) in simple APW group and 18 (90%) in complex APW group. Their mean age and weight were 4.8 ± 1.8 months and 4 ± 0.4 kg, respectively. APW Type I was confirmed in 65% followed by Type III in 20% and then Type II in 15% of the patients. In the complex APW group, atrial septal defect was the commonest associated cardiac lesion occurring in 8/20 (40%), followed by ventricular septal defect, interrupted aortic arch, and pulmonary artery anomalies in 25% of each. The presence of patent ductus arteriosus (PDA) was found in 40% of APW cases with 2/3rd of them in association with interrupted aortic arch. Two patients (10%) had unusual coronary anomalies that required repair, both with APW Type I. Associated non-cardiac anomalies were found in 30% of cases. Risk Adjustment for Congenital Heart Surgery (RACHS-1) score frequencies were between 2 and 4. Only one patient had reactive pulmonary hypertension related to chronic lung disease. All patients underwent surgical correction with median age of 2 month at the time of repair (interquartile range, 2 weeks to 4.5 months). Mean duration of mechanical ventilation, pediatric cardiac ICU and hospital length of stay were 2.8 ± 0.5, 9 ± 3 and 26 ± 6 days, respectively. All patients survived with no residual APW with mean follow-up duration of 4.5 years.ConclusionMajority of APW are associated with other cardiovascular anomalies (90%) including coronary abnormalities (10%). Early surgical repair of APW and associated lesions showed excellent survival rate, freedom from re-intervention need within an average of 4.5 years of follow up and no evidence of persistent pulmonary hypertension post repair.
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Project description:Despite the significant advances in the last decades, low implantation rate per transferred embryo still remains a major concern in assisted reproductive techniques, highlighting a need to better characterize endometrial receptivity also by mean of specific biomarkers. Based on physiology and on the intimate contact with endometrium as the tissue of interest, in this study we developed and validated an optimized protocol that uses extracellular vesicles (EVs) recovered from uterine flushings and from a cervical brush, the latter never used until now as an EVs source, as surrogates for endometrial biopsies. This method combines the safety of sampling with the ability to study the expression profile across the uterine cycle. We have compared the yield and composition of EVs recovered from different biofluids samples and fractions thereof, opting for chemical precipitation as the EV isolation procedure, assuring the highest yield without introducing any bias in specific EV recovery. Moreover, collected EVs, in particular exosome-like vesicles, express putative endometrial markers, such as glycodelin A and receptors for estrogen and progesterone, thus confirming their endometrial origin. We also identified uterine flushing EVs, in particular those recovered from its mucous fraction, as the richest source of endometrial transcripts, likely correlated to cellular (epithelial) origin of these vesicles. Finally, our pilot quantitative assessment of three endometrial gene profiles, in samples collected at different time points along the luteal phase, revealed the fluctuations apparently recapitulating gene expression variability prior reported during the menstrual cycle. Unlike tissue biopsy that is subjected to inter- and intra-sample differences, our data suggest that EVs from liquid biopsies (from uterine flushings and a cervical brush) obtained through less-invasive procedures, can be substrate to detect and track the tissue representative expression profiles, better depicting the total endometrium complexity.
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Project description:Mesothelioma affects mostly older individuals who have been occupationally exposed to asbestos. The global mesothelioma incidence and mortality rates are unknown, because data are not available from developing countries that continue to use large amounts of asbestos. The incidence rate of mesothelioma has decreased in Australia, the United States, and Western Europe, where the use of asbestos was banned or strictly regulated in the 1970s and 1980s, demonstrating the value of these preventive measures. However, in these same countries, the overall number of deaths from mesothelioma has not decreased as the size of the population and the percentage of old people have increased. Moreover, hotspots of mesothelioma may occur when carcinogenic fibers that are present in the environment are disturbed as rural areas are being developed. Novel immunohistochemical and molecular markers have improved the accuracy of diagnosis; however, about 14% (high-resource countries) to 50% (developing countries) of mesothelioma diagnoses are incorrect, resulting in inadequate treatment and complicating epidemiological studies. The discovery that germline BRCA1-asssociated protein 1 (BAP1) mutations cause mesothelioma and other cancers (BAP1 cancer syndrome) elucidated some of the key pathogenic mechanisms, and treatments targeting these molecular mechanisms and/or modulating the immune response are being tested. The role of surgery in pleural mesothelioma is controversial as it is difficult to predict who will benefit from aggressive management, even when local therapies are added to existing or novel systemic treatments. Treatment outcomes are improving, however, for peritoneal mesothelioma. Multidisciplinary international collaboration will be necessary to improve prevention, early detection, and treatment.
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Project description:Background:Aortopulmonary window is a congenital heart disease requiring a surgical approach to achieve a complete correction. Case summary:We report on a case of a young female symptomatic adult patient with a significant aortopulmonary window. The patients refused surgical approach and since the defect was far enough from the pulmonary and aortic valve a percutaneous approach was proposed. The large aortopulmonary window was closed effectively with an Amplatzer Muscular Septal Occluder device (Abbott, Plymouth, MN, USA). At 1-year follow-up, the device was in a good position with no residual shunt. Discussion:Transcatheter closure of an aortopulmonary window is an effective and safe procedure in specific anatomic defects.
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