Challenges in prompt identification and surgical correction of Marfan Syndrome aortic disease in a middle-income country: a case series study.

BACKGROUND: Marfan Syndrome is an autosomal dominant disease caused by pathogenetic variants in the FBN1 gene. The progressive dilatation of the aorta and the potential risk of acute aortic syndromes influence the prognosis of these patients. We aim to describe population characteristics, long-term survival, and re-intervention patterns in patients who underwent aortic surgery with a previously confirmed clinical diagnosis of Marfan Syndrome in a middle-income country. METHODS: A retrospective single-center case series study was conducted. All Marfan Syndrome patients who underwent aortic procedures from 2004 until 2021 were included. Qualitative variables were frequency-presented, while quantitative ones adopted mean ± standard deviation. A subgroup analysis between elective and emergent procedures was conducted. Kaplan-Meier plots depicted cumulative survival and re-intervention-free. Control appointments and government data tracked out-of-hospital mortality. RESULTS: Fifty patients were identified. The mean age was 38.79 ± 14.41 years, with a male-to-female ratio of 2:1. Common comorbidities included aortic valve regurgitation (66%) and hypertension (50%). Aortic aneurysms were observed in 64% without dissection and 36% with dissection. Surgical procedures comprised elective (52%) and emergent cases (48%). The most common surgery performed was the David procedure (64%), and the Bentall procedure (14%). The in-hospital mortality rate was 4%. Complications included stroke (10%), and acute kidney injury (6%). The average follow-up was 8.88 ± 5.78 years. Survival rates at 5, 10, and 15 years were 89%, 73%, and 68%, respectively. Reintervention rates at 1, 2.5, and 5 years were 10%, 14%, and 17%, respectively. The emergent subgroup was younger (37.58 ± 14.49 years), had the largest number of Stanford A aortic dissections, presented hemodynamic instability (41.67%), and had a higher requirement of reinterventions in the first 5 years of follow-up (p = 0.030). CONCLUSION: In our study, surveillance programs played a pivotal role in sustaining high survival rates and identifying re-intervention requirements. However, challenges persist, as 48% of the patients required emergent surgery. Despite not affecting survival rates, a greater requirement for reinterventions was observed, emphasizing the necessity of timely diagnosis. Enhanced educational initiatives for healthcare providers and increased patient involvement in follow-up programs are imperative to address these concerns.

Pediatric Applications of Dual-Energy Computed Tomography.

There is renewed interest in novel pediatric dual-energy computed tomography (DECT) applications that can image awake patients faster and at low radiation doses. DECT enables the simultaneous acquisition of 2 data sets at different energy levels, allowing for better material characterization and unique image reconstructions that enhance image analysis and provide quantitative and qualitative information about tissue composition. Pediatric DECT reduces radiation doses further while accelerating image acquisition and improving motion robustness. Current applications include the improved evaluation of congenital and acquired cardiovascular anomalies, lung perfusion and ventilation, renal stone composition, tumor extension and treatment response, and gastrointestinal diseases.

Emergent hybrid surgical approaches for non-dissecting ruptured Kommerell's aneurysm: a case report series.

BACKGROUND: Kommerell's aneurysm is a saccular or fusiform dilatation found in 3-8% of Kommerell's diverticulum cases. A non-dissecting rupture rate of 6% has been reported. If ruptured, emergent surgical correction is usually granted. However, evidence regarding the optimal surgical approach in this acute setting is scarce. In this case report series, we aim to describe our experience managing type-1 non-dissecting ruptured Kommerell's aneurysm with hybrid emergent surgical approaches. CASES PRESENTATION: From January 2005 to December 2020, three cases of type-1 non-dissecting ruptured Kommerell's aneurysm requiring emergent surgical repair were identified. The mean age was 66.67 ± 7.76 years, and 3/3 were male. The most common symptoms were atypical chest pain, dyspnoea, and headache (2/3). The mean aneurysm's diameter was 63.67 ± 5.69 mm. Frozen Elephant Trunk was the preferred surgical approach (2/3). The Non-Frozen Elephant Trunk patient underwent a hybrid procedure consisting of a supra-aortic debranching and a zone-2 stent-graft deployment. We found a mean clamp time of 140 ± 60.75 min, cardiac arrest time of 51.33 ± 3.06 min, and a hospital stay of 13.67 ± 5.51 days. The most common complications were surgical-site infection and shock (2/3). Only one patient died (1/3). CONCLUSION: Evidence of management for non-dissecting ruptured Kommerell's aneurysms is scarce. Additional, robust, and more extensive studies are required. The selection of the appropriate surgical approach is challenging, and each patient should be individualized. Frozen Elephant Trunk was feasible for patients requiring emergent surgical repair in our centre. However, other hybrid or open procedures can be performed.

Cystic kidney disease in tuberous sclerosis complex: current knowledge and unresolved questions.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with an estimated incidence of one in 5000 to 10,000 live births worldwide. Two million people of all races and genders are estimated to have TSC secondary to mutations in one of two tumor suppressor genes, TSC1 or TSC2. The respective TSC1 and 2 gene products - hamartin and tuberin - form cytoplasmic heterodimers that inhibit mTOR-mediated cell growth and division. When mTOR inhibition is lost, people with TSC develop characteristic and usually benign tumors in various organ systems. Kidney tumors and cysts are common, particularly in the setting of TSC2 gene mutations. In most TSC patients, the number of kidney cysts is limited, their morphology is simple, their size is small, and their clinical significance is negligible. In some, cyst morphology progresses from simple to complex with the risk of malignant transformation. In others, aggressive accumulation and growth of kidney cysts can cause hypertension, impaired kidney function, and progression to kidney failure. This educational review summarizes current knowledge and remaining open questions regarding cystic kidney disease in TSC, emphasizing detection, classification, surveillance, and treatment options.

Detailed anatomic segmentations of a fetal brain diffusion tensor imaging atlas between 23 and 30 weeks of gestation.

This work presents detailed anatomic labels for a spatiotemporal atlas of fetal brain Diffusion Tensor Imaging (DTI) between 23 and 30 weeks of post-conceptional age. Additionally, we examined developmental trajectories in fractional anisotropy (FA) and mean diffusivity (MD) across gestational ages (GA). We performed manual segmentations on a fetal brain DTI atlas. We labeled 14 regions of interest (ROIs): cortical plate (CP), subplate (SP), Intermediate zone-subventricular zone-ventricular zone (IZ/SVZ/VZ), Ganglionic Eminence (GE), anterior and posterior limbs of the internal capsule (ALIC, PLIC), genu (GCC), body (BCC), and splenium (SCC) of the corpus callosum (CC), hippocampus, lentiform Nucleus, thalamus, brainstem, and cerebellum. A series of linear regressions were used to assess GA as a predictor of FA and MD for each ROI. The combination of MD and FA allowed the identification of all ROIs. Increasing GA was significantly associated with decreasing FA in the CP, SP, IZ/SVZ/IZ, GE, ALIC, hippocampus, and BCC (p < .03, for all), and with increasing FA in the PLIC and SCC (p < .002, for both). Increasing GA was significantly associated with increasing MD in the CP, SP, IZ/SVZ/IZ, GE, ALIC, and CC (p < .03, for all). We developed a set of expert-annotated labels for a DTI spatiotemporal atlas of the fetal brain and presented a pilot analysis of developmental changes in cerebral microstructure between 23 and 30 weeks of GA.

Pediatric magnetic resonance imaging: faster is better.

Magnetic resonance imaging (MRI) has emerged as the preferred imaging modality for evaluating a wide range of pediatric medical conditions. Nevertheless, the long acquisition times associated with this technique can limit its widespread use in young children, resulting in motion-degraded or non-diagnostic studies. As a result, sedation or general anesthesia is often necessary to obtain diagnostic images, which has implications for the safety profile of MRI, the cost of the exam and the radiology department's clinical workflow. Over the last decade, several techniques have been developed to increase the speed of MRI, including parallel imaging, single-shot acquisition, controlled aliasing techniques, compressed sensing and artificial-intelligence-based reconstructions. These are advantageous because shorter examinations decrease the need for sedation and the severity of motion artifacts, increase scanner throughput, and improve system efficiency. In this review we discuss a framework for image acceleration in children that includes the synergistic use of state-of-the-art MRI hardware and optimized pulse sequences. The discussion is framed within the context of pediatric radiology and incorporates the authors' experience in deploying these techniques in routine clinical practice.

Predicting health crises from early warning signs in patient medical records.

The COVID-19 global pandemic has caused unprecedented worldwide changes in healthcare delivery. While containment and mitigation approaches have been intensified, the progressive increase in the number of cases has overwhelmed health systems globally, highlighting the need for anticipation and prediction to be the basis of an efficient response system. This study demonstrates the role of population health metrics as early warning signs of future health crises. We retrospectively collected data from the emergency department of a large academic hospital in the northeastern United States from 01/01/2019 to 08/07/2021. A total of 377,694 patient records and 303 features were included for analysis. Departing from a multivariate artificial intelligence (AI) model initially developed to predict the risk of high-flow oxygen therapy or mechanical ventilation requirement during the COVID-19 pandemic, a total of 19 original variables and eight engineered features showing to be most predictive of the outcome were selected for further analysis. The temporal trends of the selected variables before and during the pandemic were characterized to determine their potential roles as early warning signs of future health crises. Temporal analysis of the individual variables included in the high-flow oxygen model showed that at a population level, the respiratory rate, temperature, low oxygen saturation, number of diagnoses during the first encounter, heart rate, BMI, age, sex, and neutrophil percentage demonstrated observable and traceable changes eight weeks before the first COVID-19 public health emergency declaration. Additionally, the engineered rule-based features built from the original variables also exhibited a pre-pandemic surge that preceded the first pandemic wave in spring 2020. Our findings suggest that the changes in routine population health metrics may serve as early warnings of future crises. This justifies the development of patient health surveillance systems, that can continuously monitor population health features, and alarm of new approaching public health crises before they become devastating.

Nephrogenic Systemic Fibrosis in Patients with Chronic Kidney Disease after the Use of Gadolinium-Based Contrast Agents: A Review for the Cardiovascular Imager.

Gadolinium-enhanced cardiac magnetic resonance has revolutionized cardiac imaging in the last two decades and has emerged as an essential and powerful tool for the characterization and treatment guidance of a wide range of cardiovascular diseases. However, due to the high prevalence of chronic renal dysfunction in patients with cardiovascular conditions, the risk of nephrogenic systemic fibrosis (NSF) after gadolinium exposure has been a permanent concern. Even though the newer macrocyclic agents have proven to be much safer in patients with chronic kidney disease and end-stage renal failure, clinicians must fully understand the clinical characteristics and risk factors of this devastating pathology and maintain a high degree of suspicion to prevent and recognize it. This review aimed to summarize the existing evidence regarding the physiopathology, clinical manifestations, diagnosis, and prevention of NSF related to the use of gadolinium-based contrast agents.

Endovascular Repair of a Spontaneous Popliteal Arteriovenous Fistula Associated With a Venous Aneurysm.

Popliteal arteriovenous fistulae (PAF) are anomalous communications between the arterial and venous systems of the lower extremity. They are usually secondary to trauma and are rarely associated with additional vascular defects. The coexistence of a PAF and a venous aneurysm is rare and usually occurs in patients with connective tissue disorders. Evidence regarding the management of this type of anomaly is scarce. However, both open and endovascular approaches seem feasible alternatives for treating this condition. Here, we describe a spontaneous popliteal arteriovenous fistula associated with a venous aneurysm in a 42-year-old male patient who presented with a popliteal mass. Satisfactory endovascular closure of the fistula and exclusion of the venous aneurysm were achieved using an Amplatzer™ Vascular Plug II.

Detection of Incidental Nonosseous Thoracic Pathology on State-of-the-Art Ultralow-Dose Protocol Computed Tomography in Pediatric Patients With Pectus Excavatum.

OBJECTIVE: The aim of the study was to compare a pediatric ultralow-dose pectus excavatum computed tomography (CT) protocol versus standard-dose pediatric thoracic CT in terms of radiation dose, subjective and objective image quality, and its ability to detect incidental nonosseous thoracic pathology compared with imaging and clinical reference. METHODS: A single institution radiology database identified a total of 104 ultralow-dose pediatric thoracic CT cases with an equal number of age-matched standard-dose chest CT cases also selected for retrospective analysis. Objective image quality (contrast-to-noise and signal-to-noise ratios) and radiation dose were assessed. Qualitative Likert scorings of the bone, lung, and soft tissues were performed by 2 expert radiologists. Electronic health records of the ultralow-dose cohort were reviewed for at least 1 year to evaluate for potentially missed thoracic pathology and symptoms. Variables were compared using parametric and nonparametric tests in R software 4.0.5. RESULTS: The ultralow-dose protocol group had statistically significant reductions (P < 0.001) in the volume CT dose index (0.31 ± 0.19 vs 2.20 ± 1.64 mGy), effective radiation dose (0.14 ± 0.08 vs 1.07 ± 0.86 mSv), and size-specific dose estimates (0.50 ± 0.30 vs 3.43 ± 2.56 mGy) compared with the standard protocol, yielding an 86.51% and 85.32% reduction, respectively. The signal-to-noise ratio (20.49 ± 6.19 vs 36.48 ± 10.20), contrast-to-noise (21.65 ± 6.57 vs 38.47 ± 10.59), and subjective measures of image quality (lung parenchyma [3.07 ± 0.92 vs 4.42 ± 0.47], bony structures [3.30 ± 0.86 vs 4.52 ± 0.51], and surrounding soft tissues [2.57 ± 0.63 vs 3.89 ± 0.65]) were also significantly lower in the ultralow-dose protocol (P < 0.001). No differences were seen in the number and size of pulmonary nodules between groups. Clinical and imaging follow of all 104 patients undergoing ultralow-dose CT demonstrated no evidence of missed thoracic pathology causing symptoms. CONCLUSIONS: Ultralow-dose thoracic CT is an acceptable modality for imaging pediatric patients with pectus excavatum and other conditions primarily causing osseous pathology, with effective radiation dose comparable to plain radiographs and a moderate increase in image noise that did not significantly reduce its ability to detect incidental nonosseous thoracic pathology.

Anatomical Engineering and 3D Printing for Surgery and Medical Devices: International Review and Future Exponential Innovations.

Three-dimensional printing (3DP) has recently gained importance in the medical industry, especially in surgical specialties. It uses different techniques and materials based on patients' needs, which allows bioprofessionals to design and develop unique pieces using medical imaging provided by computed tomography (CT) and magnetic resonance imaging (MRI). Therefore, the Department of Biology and Medicine and the Department of Physics and Engineering, at the Bioastronautics and Space Mechatronics Research Group, have managed and supervised an international cooperation study, in order to present a general review of the innovative surgical applications, focused on anatomical systems, such as the nervous and craniofacial system, cardiovascular system, digestive system, genitourinary system, and musculoskeletal system. Finally, the integration with augmented, mixed, virtual reality is analyzed to show the advantages of personalized treatments, taking into account the improvements for preoperative, intraoperative planning, and medical training. Also, this article explores the creation of devices and tools for space surgery to get better outcomes under changing gravity conditions.

Characterization of Pediatric Imaging Trends and Likelihood of Exam Cancellation in the COVID-19 Pandemic.

RATIONALE AND OBJECTIVE: The COVID-19 pandemic has caused unprecedented changes in radiology practice worldwide. There is a need for a framework of pediatric radiology resource allocation for future acute resource-limited settings.The aim of this study is to quantify and analyze changes in pediatric radiology practice during the COVID-19 pandemic considering demographic and clinical characteristics. MATERIALS AND METHODS: We retrospectively searched our institution's electronic health record for pediatric imaging exams from 09/15/19 to 05/01/20, with 03/15/20 as the dividing date between baseline and pandemic periods. Age, modality, exam indication, need for anesthesia/sedation, and exam completion or cancellation were recorded. All exams were compared between baseline and pandemic periods using a chi-square test and a logistic regression multivariate analysis. RESULTS: 15,424 exams were included for analysis [13,715 baseline period (mean age 10±5 years; 7440 males); 1047 COVID-19 period (mean age 9±5 years; 565 males)]. A statistically significantly lower proportion of adolescent exams (45.5% vs 53.3%), radiography modality (62.4% vs 70.4%) and non-traumatic pain indication (39.1% vs 46.3%) was observed during the COVID-19 period. Conversely, we found a higher proportion of neonatal (5.8% vs 3.8%), infant (5.6% vs 4.1%) and early childhood patients (12.9% vs 9.8%), CT (7.4% vs 5.9%) and ultrasound modalities (18.3% vs 13.5%), oncologic (8.8% vs 6.5%) and congenital/development disorder indications (6% vs 3.9%), and studies performed under anesthesia (2.7% vs 1.3%). Regarding exam completion rates, the neonatal age group (OR 1.960 [95% CI 0.353 - 0.591]; p <0.020) and MRI modality (OR 1.502 [95% CI: 0.214 - 0.318]; p <0.049) had higher odds of completion during the COVID-19 pandemic, while fluoroscopy modality was associated with lower odds of completion (OR 0.524 [95% CI: 0.328 - 0.839]; p = 0.011). CONCLUSION: The composition and completion of pediatric radiology exams changed substantially during the COVID-19 pandemic. A sub-set of exams resilient to cancellation was identified.

Molecular and Clinical Aspects of Chronic Manifestations in Chagas Disease: A State-of-the-Art Review.

Chronic manifestations of Chagas disease present as disabling and life-threatening conditions affecting mainly the cardiovascular and gastrointestinal systems. Although meaningful research has outlined the different molecular mechanisms underlying Trypanosoma cruzi's infection and the host-parasite interactions that follow, prompt diagnosis and treatment remain a challenge, particularly in developing countries and also in those where the disease is considered non-endemic. This review intends to present an up-to-date review of the parasite's life cycle, genetic diversity, virulence factors, and infective mechanisms, as well as the epidemiology, clinical presentation, diagnosis, and treatment options of the main chronic complications of Chagas disease.

Multiple Coronary Fistulas After Several Penetrating Chest Wounds: A Rare Case of Refractory Heart Failure.

Coronary artery fistulas are rare coronary abnormalities. Most of these fistulas have a congenital origin, and only a few are acquired. We report the case of a patient with late-acquired multiple coronary fistulas secondary to a stab wound, diagnosed in the setting of ischemic heart failure secondary to coronary steal syndrome. (Level of Difficulty: Intermediate.).

Chagas Cardiomyopathy: From Romaña Sign to Heart Failure and Sudden Cardiac Death.

Despite nearly a century of research and accounting for the highest disease burden of any parasitic disease in the Western Hemisphere, Chagas disease (CD) is still a challenging diagnosis, primarily due to its poor recognition outside of Latin America. Although initially considered endemic to Central and South America, globalization, urbanization, and increased migration have spread the disease worldwide in the last few years, making it a significant public health threat. The international medical community's apparent lack of interest in this disease that was previously thought to be geographically restricted has delayed research on the complex host-parasite relationship that determines myocardial involvement and its differential behavior from other forms of cardiomyopathy, particularly regarding treatment strategies. Multiple cellular and molecular mechanisms that contribute to degenerative, inflammatory, and fibrotic myocardial responses have been identified and warrant further research to expand the therapeutic arsenal and impact the high burden attributed to CD. Altogether, cardiac dysautonomia, microvascular disturbances, parasite-mediated myocardial damage, and chronic immune-mediated injury are responsible for the disease's clinical manifestations, ranging from asymptomatic disease to severe cardiac and gastrointestinal involvement. It is crucial for healthcare workers to better understand CD transmission and disease dynamics, including its behavior on both its acute and chronic phases, to make adequate and evidence-based decisions regarding the disease. This review aims to summarize the most recent information on the epidemiology, pathogenesis, clinical presentation, diagnosis, screening, and treatment of CD, emphasizing on Chagasic cardiomyopathy's (Ch-CMP) clinical presentation and pathobiological mechanisms leading to sudden cardiac death.

Impact of a pharmacist-based multidimensional intervention aimed at decreasing the risk of hyperkalemia in heart failure patients: A Latin-American experience.

AIMS: Hyperkalemia is a potentially life-threatening condition associated with the use of heart failure (HF) medications, which can lead to increased morbidity and mortality. Novel approaches for hyperkalemia prevention are needed, especially in limited-resource settings. Despite multiple studies showing the beneficial impact of pharmaceutical-counseling in several outcomes, there is a knowledge-gap regarding its impact on hyperkalemia prevention. METHODS: A case-control study was performed in patients from the Adult Heart Failure Clinic Registry in our institution. Cases were selected using a definition of serum potassium K+ ≥5.5 mmol/L. To study the association between hyperkalemia and relevant risk factors, we performed a multivariate logistic regression analysis using the Least Absolute Shrinkage and Selection Operator (LASSO) method for variable selection. We also fitted a Classification and Regression Tree (CART) to establish complex interactions and effect modifiers between the selected variables. RESULTS: We matched 483 controls (eligible HF patients without hyperkalemia) to 132 cases (eligible HF patients with hyperkalemia based on age and calendar, yielding a total sample size of 615 patients (270 females) for this study. Cases had statistically significant lower odds of receiving a pharmacist-based multidimensional intervention (PBMI) (OR 0.57; 95% CI, 0.43-0.80) or having HF with reduced ejection fraction (OR 0.56; 95% CI, 0.18-0.72). On the other hand, patients who presented hyperkalemia had statistically significant higher odds of having a history of chronic kidney disease stage 4 (OR 4.97; 95% CI, 2.24-11.01) or 5 (OR 6.73; 95% CI, 1.69-26.84) and being on enalapril at doses =40 mg/day (OR, 9.90; 95% CI 5.81-16.87). CONCLUSIONS: PBMI is a practical approach to prevent hyperkalemia in HF patients in a limited-resource setting. However, clinical trials are needed to assess its effectiveness.

Mediastinal mass after a Blalock-Taussig shunt: utility of CT angiography.

Pseudoaneurysms are rare complications of Blalock-Taussig fistulas. We present the case of an abscessed right pulmonary aneurysm after a Blalock-Taussig fistula in the context of a Salmonella bacteremia.

Paediatric cardiomyopathies: echocardiographic diagnosis, clinical profile, and demographic characteristics: the experience of a tertiary referral centre for Latin American paediatric cardiology.

BACKGROUND: Although multiple studies have been conducted in the adult population, there is a vast knowledge gap regarding the epidemiologic characteristics of cardiomyopathies in the paediatric population. This issue is even more crucial when the precarious situation of medical research in Latin America is considered. Given the potential impact that these disorders could have on Latin American health systems, a comprehensive epidemiologic study regarding the clinical profile and sociodemographic characteristics of these patients will influence the way we approach paediatric cardiomyopathies. METHODS: An observational retrospective study was conducted at a tertiary referral centre for Colombian and Latin American paediatric cardiology. We analysed all cases of primary cardiomyopathies in children younger than 18 years of age who presented at our institution between 2010 and 2016. Cases of cardiomyopathies were classified according to World Health Organization guidelines. RESULTS: From a total of 29,533 children who attended our institution during the study period, 89 new cases of primary cardiomyopathies were identified. The median age at diagnosis was 11 years (interquartile range 4-9). Dilated cardiomyopathy accounted for 57.3% (n = 51) of cases; hypertrophic cardiomyopathy, 12.3% (n = 11); restrictive cardiomyopathy, 8.9% (n = 8); non-compacted cardiomyopathy, 7.8% (n = 7); arrhythmogenic ventricular cardiomyopathy, 6.7% (n = 6); and unspecified cardiomyopathy, 6.7% (n = 6). Heart failure was observed in 53.93% of the patients. The overall mortality was 12.36% (n = 11), which included two of eight patients who underwent cardiac transplantation.