Abnormal Origin of the Pulmonary Artery from the Ascending Aorta in the Neonate

ABSTRACT The anomalous origin of one pulmonary artery from the ascending aorta is a rare congenital heart disease, generally diagnosed based on the clinical information and on echocardiographic and computed tomography angiography findings. Here we report two neonates successfully treated with surgery early in life.

Abnormal Origin of the Pulmonary Artery from the Ascending Aorta in the Neonate.

The anomalous origin of one pulmonary artery from the ascending aorta is a rare congenital heart disease, generally diagnosed based on the clinical information and on echocardiographic and computed tomography angiography findings. Here we report two neonates successfully treated with surgery early in life.

Congenitally Corrected Transposition of the Great Arteries in the Adult

ABSTRACT Introduction: Congenitally corrected transposition of the great arteries (CCTGA) is a rare anomaly. Current data available regarding adult cases is derived from small series, information simultaneously presented in pediatric publications, and one classical multicenter study. This review, not aimed to exhaust the subject, has the purpose to examine the literature addressing presentation, diagnostic methodology, and management of afflicted adult patients. Methods: A comprehensive search was undertaken in three major databases (PubMed, Cochrane, SciELO), using the keywords "congenitally corrected transposition of the great arteries" and "adults". Relevant articles in English, Spanish, and Portuguese were extracted and critically appraised in this review. Steps for study selection were: (1) identification of titles of records through databases searching, (2) removal of duplicates, (3) screening and selection of abstracts, (4) final inclusion in the study. Results: Four hundred sixty-five publications on CCTGA in adult patients were retrieved, and 166 were excluded; 299 studies were used for this review including 76 full-text articles, 70 studies related to general aspects of the subject, and, due to the small number of publications, 153 case reports. Sixty-one articles referring to combined experiences in pediatric and adult patients and judged to be relevant, but retrieved from another sources, were also included. Conclusion: Albeit clinical presentation and diagnostic criteria have been well stablished, there seems to be room for discussion related to clinical and surgical management of CCTGA in adults. Considering the rarity of the disease, well designed multicenter studies may provide answers.

Congenitally Corrected Transposition of the Great Arteries in the Adult.

INTRODUCTION: Congenitally corrected transposition of the great arteries (CCTGA) is a rare anomaly. Current data available regarding adult cases is derived from small series, information simultaneously presented in pediatric publications, and one classical multicenter study. This review, not aimed to exhaust the subject, has the purpose to examine the literature addressing presentation, diagnostic methodology, and management of afflicted adult patients. METHODS: A comprehensive search was undertaken in three major databases (PubMed, Cochrane, SciELO), using the keywords "congenitally corrected transposition of the great arteries" and "adults". Relevant articles in English, Spanish, and Portuguese were extracted and critically appraised in this review. Steps for study selection were: (1) identification of titles of records through databases searching, (2) removal of duplicates, (3) screening and selection of abstracts, (4) final inclusion in the study. RESULTS: Four hundred sixty-five publications on CCTGA in adult patients were retrieved, and 166 were excluded; 299 studies were used for this review including 76 full-text articles, 70 studies related to general aspects of the subject, and, due to the small number of publications, 153 case reports. Sixty-one articles referring to combined experiences in pediatric and adult patients and judged to be relevant, but retrieved from another sources, were also included. CONCLUSION: Albeit clinical presentation and diagnostic criteria have been well stablished, there seems to be room for discussion related to clinical and surgical management of CCTGA in adults. Considering the rarity of the disease, well designed multicenter studies may provide answers.

Isolated Left Ventricular Apical Hypoplasia without Lamin A/C Gene Mutation

Abstract Isolated left ventricular apical hypoplasia is a rare cardiomyopathy, with a broad range of clinical presentations. Since this entity was already described in association with osteomuscular diseases, mutation in the Lamin A/C gene has been regarded as a possible cause of this disease. This study describes the case of an asymptomatic teenager with isolated left ventricular apical hypoplasia and arthrogriposis but with no mutations in the entire Lamin A/C gene.

Acompanhamento a longo prazo de paciente do sexo masculino com fibroma cardíaco assintomático / Long-Term follow-up of an asymptomatic man with a cardiac fibroma

Descreve-se o caso de um homem de 19 anos assintomático com fibroma de ventrículo esquerdo em acompanhamento por 15 anos, sem tratamento.(AU)

Here we describe a case of a 19-year-old asymptomatic man with a left ventricular fibroma on follow-up for 15 years with no treatment required.(AU)

Agreement Between American and European Thyroid Imaging, Reporting, and Data System (TIRADS) in the Diagnosis of 473 Thyroid Nodules From a Single Center in Brazil.

OBJECTIVE: To compare 2 ultrasound-based risk stratification systems in malignancy risk assessment of thyroid nodules and the clinical applicability of these guidelines in Brazil. METHODS: We retrospectively reviewed the ultrasound findings of 314 patients (473 thyroid nodules) who underwent fine-needle aspiration (FNA) biopsy and/or surgery between February 2018 and March 2019. All nodules were classified using 2 systems: the Thyroid Imaging, Reporting, and Data System (TIRADS) of the American College of Radiology (ACR-TIRADS) and the TIRADS of the European Thyroid Association (EU-TIRADS). Both risk stratification systems were analyzed. We identified the diagnostic predictive values that yielded optimal sensitivity, specificity, positive predictive value, negative predictive value, and accuracy. RESULTS: Of the 473 nodules, all underwent FNA, and histopathology was performed for 332 nodules. The agreement between the ACR-TIRADS and EU-TIRADS results and that between cytology and histopathology findings was 92.6% (kappa = 0.84) and 86.7% (kappa = 0.73), respectively. The area under the curve for the ACR-TIRADS and EU-TIRADS was 0.871 and 0.828, respectively (P < .001). The EU-TIRADS had the best sensitivity and negative predictive value, whereas the ACR-TIRADS had the best specificity, positive predictive value, and accuracy. Of the 473 nodules studied, only 158 (33.4%) followed the FNA size criteria suggested by the ACR-TIRADS. CONCLUSION: ACR-TIRADS and EU-TIRADS had good diagnostic performances. However, most aspirated nodules did not follow the TIRADS indication; thus, the overuse of FNA as a diagnostic tool was observed.

Adult Congenital Heart Disease Outpatient Clinic. Descriptive Analysis of A 12-Year Experience in Brazil.

OBJECTIVE: Description of adult congenital heart disease (CHD) outpatient characteristics has not been reported and several aspects regarding these patients require attention. We describe the 12-year experience of a Brazilian unit. METHODS: The main characteristics of 1168 patients were reviewed annotating for each patient age, gender, city of residence, main diagnosis, functional class at last examination, defect complexity and in-hospital referral pattern. RESULTS: Increasing workload was documented. Among the CHD patients, 663 (57%) were between 14 and 30 years old and 920 (79%) lived in the referral region. Referrals were made by hospital cardiologists for 611 (52%) patients, while 519 (45%) were referred by pediatric cardiologists. Regarding CHD severity, 637 (55%) had a defect of mild complexity. Of the patients analyzed, 616 (53%) had undergone an intervention, mainly atrial septal defect (ASD) closure, correction of tetralogy of Fallot, ventricular septal defect (VSD) closure and relief of coarctation of the aorta (CoAo). The main diagnosis of the 552 (47%) patients not submitted to an intervention were ASD, VSD, aortic stenosis, complex CHD and pulmonary stenosis. Regarding functional class, 1016 (87%) were in class I and 280 (24%) were lost to follow-up. Seventy-three patients had died, mainly due to cardiac death. CONCLUSION: In a unit were complex pediatric congenital heart surgery started twenty years ago, an increasing adult CHD workload was documented. Referral came predominantly from cities around the unit, most patients had low complexity defects and were in functional class I, a significant loss of follow-up was documented, and the death of patients was mainly due to the heart defect.

Adult congenital heart disease outpatient clinic. descriptive analysis of a 12-year experience in Brazil

Abstract Objective: Description of adult congenital heart disease (CHD) outpatient characteristics has not been reported and several aspects regarding these patients require attention. We describe the 12-year experience of a Brazilian unit. Methods: The main characteristics of 1168 patients were reviewed annotating for each patient age, gender, city of residence, main diagnosis, functional class at last examination, defect complexity and in-hospital referral pattern. Results: Increasing workload was documented. Among the CHD patients, 663 (57%) were between 14 and 30 years old and 920 (79%) lived in the referral region. Referrals were made by hospital cardiologists for 611 (52%) patients, while 519 (45%) were referred by pediatric cardiologists. Regarding CHD severity, 637 (55%) had a defect of mild complexity. Of the patients analyzed, 616 (53%) had undergone an intervention, mainly atrial septal defect (ASD) closure, correction of tetralogy of Fallot, ventricular septal defect (VSD) closure and relief of coarctation of the aorta (CoAo). The main diagnosis of the 552 (47%) patients not submitted to an intervention were ASD, VSD, aortic stenosis, complex CHD and pulmonary stenosis. Regarding functional class, 1016 (87%) were in class I and 280 (24%) were lost to follow-up. Seventy-three patients had died, mainly due to cardiac death. Conclusion: In a unit were complex pediatric congenital heart surgery started twenty years ago, an increasing adult CHD workload was documented. Referral came predominantly from cities around the unit, most patients had low complexity defects and were in functional class I, a significant loss of follow-up was documented, and the death of patients was mainly due to the heart defect.

Better performance of four-dimension computed tomography as a localization procedure in normocalcemic primary hyperparathyroidism.

INTRODUCTION: The multi-phase or four-dimensional computed tomography (4D CT) has emerged as a promising technique for preoperative localization of parathyroid lesions in patients with primary hyperparathyroidism (PHPT), but little is known about its accuracy in patients with normocalcemic primary hyperparathyroidism (NPHPT). METHODS: A total of 18 patients diagnosed with PHPT underwent three methods of preoperative localization (4D CT, TC-99-Sestamibi scintigraphy and ultrasonography). After surgery, the results of imaging were compared with operative findings, pathological and biochemical data to evaluate the sensitivity and of each localization procedure. RESULTS: In NPHPT the sensitivity for identifying the parathyroid lesion, according to presentation of PHPT (hypercalcemic or normocalcemic), was better with 4DCT in comparison to USG and scintigraphy. In these patients, the sensitivity for lateralization was as follows: USG: 22% (95% CI 0-44.9), scintigraphy: 11.1% (95% CI 0-31.6), 4DCT: 55.6% (95% CI 23.1-88). In hypercalcemic patients the results were as follows: USG: 58.3% (95% CI 30.4-86.2), scintigraphy: 75% (95% CI 50.5-99.5), 4DCT: 75% (95% CI 50.5-99.5). There was a poor agreement between the three procedures in the identification of the parathyroid lesions, with Kappa coeficients of 0.292 and 0.01 for scintigraphy and 4DCT, respectively, in comparison to USG. CONCLUSION: Our data showed that 4DCT had a better performance as a preoperative localization procedure of the parathyroid lesion in patients with NPHPT.

Chronic Recurrent Multifocal Osteomyelitis: A Case Report with Atypical Presentation.

INTRODUCTION: Chronic recurrent multifocal osteomyelitis (CRMO) is a rare autoinflammatory condition. The clinical picture consists of sterile osteomyelitis, typically with multiple-site lesions in the metaphysis of long bones and not uncommonly, symmetrical bone involvement. It is a poorly understood entity, whose prognosis, etiology and ideal treatment are still controversial. The authors report a case of unifocal presentation with an atypical location. CASE REPORT: A previously healthy 12-year-old Caucasian girl came to our institution due to progressive pain on her left thigh for the previous 3 months. The initial X-ray showed a permeative, diaphyseal lesion of her left femur, with marked periosteal reaction. The differential initially included Ewing's sarcoma, osteosarcoma, subacute osteomyelitis, and Langerhans cell histiocytosis. Needle and open biopsies demonstrated the presence of chronic inflammatory infiltrate, with fibrosis, but no signs of neoplastic disease. Serologic and microbiological studies failed to demonstrate an infectious etiology. The patient was treated with nonsteroid anti-inflammatories, corticosteroids, and bisphosphonates for 6 months. Although no antibiotics were employed, the patient showed clinical and radiological improvement, at 18-month follow-up. CONCLUSIONS: CRMO is a rare condition, and the absence of specific features constitutes a diagnostic challenge. A high level of suspicion is paramount to avoid unnecessary biopsies and repeated antibiotic regimens. Unifocal presentation of this disease, atypical locations, and absence of recurrence have all been previously reported, with the evidence pointing to a shared etiological process with no distinction being made between these variants. For this reason, the authors believe that the term "nonbacterial osteomyelitis" might be a more all-embracing designation.

Elaboração coletiva do código de ética do estudante de medicina / Collective drafting of the medical student's code of ethics / Elaboración colectiva del código de ética del estudiante de medicina

Resumo Este artigo descreve a elaboração do Código de Ética do Estudante de Medicina comparando o processo com o descrito na literatura. Os dados foram levantados em pesquisa de campo qualitativa, por meio de entrevista com 24 estudantes, e quantitativa, com aplicação de questionário sobre conflitos éticos a 281 acadêmicos. A partir das opiniões dos estudantes e pesquisa bibliográfica, identificaram-se temáticas essenciais para elaboração do código de ética do estudante de graduação. Como resultado, o código abordou direitos e deveres de professores, pacientes, instituições e sociedade em geral, considerando inclusive problemas contemporâneos, como o uso de redes sociais e trote universitário. Concluiu-se que a elaboração coletiva do código corresponde ao início de processo que pretende estimular a reflexão sobre assistência médica e dimensão social para se tomar decisões coerentes com princípios éticos e morais em respeito à dignidade do ser humano.

Abstract This article describes the drafting of the Medical Student's Code of Ethics comparing the process with what is described in literature. Data was collected through qualitative field research, by means of interviews with 24 students, and quantitative field research, using a questionnaire regarding ethical conflicts with a sample of 281 medical students. Based on the students' views and bibliographic research, key issues regarding the preparation of the undergraduates' code of ethics were identified. As a result, the code dealt with rights and duties of lecturers, patients, the institution and society as a whole, considering even contemporary problems such as the use of social networks and college hazing. The study concludes that the collective drafting of the code is the beginning of a process that intends to encourage reflection on health care and social perspective in order to take decisions consistent with ethical and moral principles, respecting human dignity.

Resumen Este artículo describe la elaboración del Código de Ética del Estudiante de Medicina comparando este proceso con lo que se describe en la literatura. Se recolectaron datos a partir de una investigación cualitativa, mediante entrevistas con 24 estudiantes, y de una cuantitativa a través de la aplicación de un cuestionario sobre conflictos éticos a 281 universitarios. A partir de las opiniones de los estudiantes y de la investigación bibliográfica se identificaron temáticas esenciales para la elaboración del código de ética del estudiante de grado. En consecuencia, el código abordó los derechos y deberes de los profesores, los pacientes, las instituciones y la sociedad en general, considerando, además, los problemas contemporáneos como el uso de redes sociales y los ritos de iniciación universitarios. Se concluye que la elaboración colectiva del código corresponde al inicio de un proceso que pretende estimular la reflexión sobre la asistencia médica y la dimensión social para la toma de decisiones coherentes con los principios éticos y morales, respetando la dignidad del ser humano.

Congenital Zika syndrome with arthrogryposis: retrospective case series study.

OBJECTIVE: To describe the clinical, radiological, and electromyographic features in a series of children with joint contractures (arthrogryposis) associated with congenital infection presumably caused by Zika virus. DESIGN: Retrospective case series study. SETTING: Association for Assistance of Disabled Children, Pernambuco state, Brazil. PARTICIPANTS: Seven children with arthrogryposis and a diagnosis of congenital infection presumably caused by Zika virus during the Brazilian microcephaly epidemic. MAIN OUTCOME MEASURES: Main clinical, radiological, and electromyographic findings, and likely correlation between clinical and primary neurological abnormalities. RESULTS: The brain images of all seven children were characteristic of congenital infection and arthrogryposis. Two children tested positive for IgM to Zika virus in the cerebrospinal fluid. Arthrogryposis was present in the arms and legs of six children (86%) and the legs of one child (14%). Hip radiographs showed bilateral dislocation in seven children, subluxation of the knee associated with genu valgus in three children (43%), which was bilateral in two (29%). All the children underwent high definition ultrasonography of the joints, and there was no evidence of abnormalities. Moderate signs of remodeling of the motor units and a reduced recruitment pattern were found on needle electromyography (monopolar). Five of the children underwent brain computed tomography (CT) and magnetic resonance imaging (MRI) and the remaining two CT only. All presented malformations of cortical development, calcifications predominantly in the cortex and subcortical white matter (especially in the junction between the cortex and white matter), reduction in brain volume, ventriculomegaly, and hypoplasia of the brainstem and cerebellum. MRI of the spine in four children showed apparent thinning of the cord and reduced ventral roots. CONCLUSIONS: Congenital Zika syndrome should be added to the differential diagnosis of congenital infections and arthrogryposis. The arthrogryposis was unrelated to the abnormalities of the joints themselves, but was possibly of neurogenic origin, with chronic involvement of central and peripheral motor neurones leading to deformities as a result of fixed postures in utero. Based on the neurophysiological observations, we suggest two possible mechanisms: tropism of neurones, with involvement of peripheral and central motor neurones, or a relation with vascular disorders.

Desmoid Tumor After a Minimally Invasive Atrial Septal Defect Closure in an Adolescent.

The surgical closure of secundum atrial septal defect (ASD) is frequently performed. The minimally invasive approach, currently adopted by many centers as a way to preserve aesthetic appearance, particularly in female patients, seems to be safe. We describe the case of an adolescent who developed a desmoid tumor soon after a minimally invasive operation for surgical closure of a secundum ASD.

Recommendations for starting a grown up congenital heart disease (GUCH) unit / Recomendações para a implantação de uma Unidade de Cardiopatias Congênitas no Adulto

AbstractDuring the last decades, advances in diagnosis and treatment of congenital heart disease have allowed many individuals to reach adulthood. Due mainly to the great diagnostic diversity and to the co-morbidities usually present in this age group, these patients demand assistance in a multidisciplinary facility if an adequate attention is aimed. In this paper we reviewed, based in the international literature and also on the authors’ experience, the structural conditions that should be available for these patients. We highlighted aspects like the facility characteristics, the criteria usually adopted for patient transfer from the paediatric setting, the composition of the medical and para- medical staff taking into account the specific problems, and also the model of outpatient and in-hospital assistance. We also emphasized the importance of patient data storage, the fundamental necessity of institutional support and also the compromise to offer professional training. The crucial relevance of clinical research is also approached, particularly the development of multicenter studies as an appropriate methodology for this heterogeneous patient population.

ResumoDurante as últimas décadas, os avanços verificados no diagnóstico e tratamento das cardiopatias congênitas têm permitido que muitos indivíduos cheguem à idade adulta. Devido principalmente à grande diversidade diagnóstica e também às comorbidades habitualmente presentes nesse grupo etário, esses pacientes necessitam ser atendidos numa unidade multidisciplinar, se o objetivo for proporcionar uma assistência adequada. Neste trabalho revisamos, com base na experiência dos autores e na literatura internacional, as condições estruturais que devem estar disponíveis para esses pacientes. Procuramos ressaltar aspectos como as características da unidade, o critério usualmente adotado para transferência desses pacientes da unidade pediátrica, a composição das equipes médica e paramédica levando em consideração os problemas específicos dos pacientes e também o modelo de assistência ambulatorial e hospitalar. Enfatizamos, ainda, a importância do armazenamento dos dados dos pacientes, a necessidade fundamental de apoio institucional e a importância de oferecer treinamento profissional. A relevância da pesquisa clínica é também abordada, particularmente a importância da confecção de estudos multicêntricos, como uma metodologia apropriada para essa heterogênea população de pacientes.

Outcomes of Patients After Arterial Switch Operation: 18 Years of Experience in a Single Medium-Volume Center.

The objective of this paper was to describe the outcomes in patients submitted to arterial switch operation and to analyze the predictors of in-hospital mortality and further need of re-operation at a single-center institution. Between September 1995 and January 2014, 128 consecutive arterial switch operations were performed. Surgical mortality during this period was analyzed retrospectively, and a follow-up analysis of the survivors was conducted. Surgical era, cardiopulmonary bypass time (p = 0.001), and diagnosis category (p = 0.025) influenced in-hospital mortality. The estimated overall survival for the 91 hospital survivors was 96.8, 96.4, and 96.2 % at 5, 10, and 15 years, respectively. The median follow-up time was 67 months (range 0.71-222 months). Three patients (5 %) presented severe aortic regurgitation. Right ventricle outflow tract systolic gradient by echocardiography was above 60 mmHg in 2 %. Late re-interventions occurred in 12 (13 %) patients with mean time of 64 ± 34 months after the initial procedure. Actuarial freedom from re-interventions at 5, 10, and 15 years was 96.4, 69.7, and 61.9 %, respectively. Arterial switch operation remains the procedure of choice in patients with transposition of great arteries. It can be performed even in middle-volume institutions, leading to the same middle- and long-term outcomes of high-volume institutions. Early high mortality rate may occur due not only to learning curve, but also to cardiopulmonary bypass time and ventricular septal defect closure.

Diagnostic challenge of a deep minor salivary gland neoplasm.

Core needle biopsy represents a safe and cheap alternative diagnostic method to open biopsy and fine-needle aspiration cytology in head and neck tumors. There is little evidence in the literature about the use of core needle biopsy in minor salivary gland lesions. This single case report presents a 60-year-old woman with a painless swelling in the soft palate, breathing and swallowing difficulties, and a feeling of suffocation. Two open biopsies had inconclusive diagnosis and the lesion could only be assessed and diagnosed as pleomorphic adenoma through core needle biopsy. Recognizing the correct indication of core needle biopsy can benefit both health professionals and patients; thus, it is important to consider the possibility of performing this method to diagnose minor salivary gland tumors.

Avaliação da execução de Plano Local de Habitação de Interesse Social / Evaluation of implementation Local Plan of Social Interest Housing

O artigo apresenta uma metodologia de avaliação da execução do Plano Local de Habitação de Interesse Social, aplicado em um município de pequeno porte localizado no oeste do Estado de Santa Catarina, visando à aplicação real do método. A pesquisa, fruto de tese de doutorado, foi de natureza aplicada, com abordagem qualitativa, caracterizada como exploratória. O método proposto contemplou três etapas ­ constituídas por levantamento das características de base, avaliação do PLHIS e o diagnóstico e proposições de melhorias ­ possibilita a avaliação sistemática de todo o período temporal relativo à execução do PLHIS. Os resultados mostraram que o município, na sua dinâmica real, não utiliza o Plano para direcionar as ações na área habitacional, embora constantemente manuseado, o plano não é usado como parâmetro que direcione as ações a serem desenvolvidas. Com a aplicação do método, foi possível observar outros aspectos que precisam ser contemplados no processo avaliativo.

The aim of this paper is to present a methodology for evaluating the implementation of Local Plans of Social Interested Housing (PLHIS ­ Planos Locais de Habitação de Interesse Social), applied to a small city located in the western of Santa Catarina state, seeking the real application of the method. The research was applied, with a qualitative approach, characterized as exploratory. The proposed method included three steps ­ survey of baseline characteristics, evaluation of PLHIS and the diagnosis and proposals of improvements ­ enables the systematic evaluation of the entire time period on the implementation of PLHIS. The results showed that the municipality, in its real dynamics, does not use the Plan to guide actions in the housing area, is constantly handled, but not used as a parameter that directs the actions to be developed. With the applicability of the method, it was observed that it still needs contemplate other aspects. It is suggested that the method can be applied in another small municipalities.