Venous malformations: what do phleboliths tell us in the pediatric population?

PURPOSE: Phleboliths are often observed within Venous malformations (VM) and frequently indicated as cause of morbidity. The aim of this study is to investigate independent risk factors for phleboliths in a pediatric population and to determine if its presence influences clinical management. METHODS: We retrospectively review data from patients diagnosed with VM in a vascular anomalies center during a 5-year period. Associations between phleboliths and potential risk factors were assessed. A multivariable analysis, was performed to assess the influence of phleboliths in the need for surgery. RESULTS: We included 88 patients with a mean age of 10 years. Phleboliths were found in 33.0%. In univariate analysis, there were no significant differences between the two groups regarding age or gender, location, dimension or depth of the VM, pain and laboratory parameters. Multivariable analysis could not detect any independent risk factor for phleboliths. In contrast, multivariable logistic analysis revealed that when phleboliths were present, the need for surgical extirpation was more likely (p = 0.031). CONCLUSIONS: This study showed that patients who have phleboliths within their VM seem to require surgery more frequently. This constitutes an entirely innovative thought that could raise awareness to a lower threshold for surgery in this group of patients.

Thoracic venous malformation: a particular form of a visceral variant.

A teenage boy was admitted due to a thoracic mass with previous respiratory infections. The CT scan showed phleboliths in a cystic lesion with large draining channels. He also presented a mild thrombocytosis, elevated fibrinogen and D-dimer. Arteriogram revealed no abnormal arterial supply but venography proved venous draining channels as the major components of the lesion. The most important venous pedicle was embolised. However, 6 months later, CT scan showed no reduction in lesion size. Surgical resection was performed. Anatomopathological study described a venous malformation (VM) with a lymphatic component, and genetic testing found a typical mutation in PIK3CA and genetic variant in MAP3K3 This case reports a very rare pattern of thoracic vascular tumour. The authors aim to highlight the importance of genetic studies of VM with atypical presentation in order to achieve a definitive diagnosis.

Complex lymphatic malformations in pediatrics: a review of treatment options.

INTRODUCTION: Lymphatic malformations (LMs) are low-flow lesions resulting from abnormalities in the development of lymphatics. The management of these lesions is complex and involve the collaboration of many specialties. The purpose of this review is to summarize current knowledge regarding the different therapeutic options used in complex lymphatic malformations, analyzing their indications, efficacy and complications. EVIDENCE ACQUISITION: A search was made using the algorithm: "(lymphatic abnormality OR lymphatic malformation OR lymphangioma OR cystic hygroma) AND (extensive OR giant OR complex) AND (therapeutics OR treatment) AND (child OR children)". Of the 120 articles found, 53 were included. EVIDENCE SYNTHESIS: Historically, surgery was the treatment of choice for this type of lesions. However, excision was often incomplete, associated with high rates of recurrence and severe complications. The use of sclerotherapy emerged as a minimal invasive option appropriate in selected cases as a single or adjuvant therapy. Inhibitors of the mammalian target of rapamycin, such as sirolimus, now play a central role in the treatment of complex malformations resistant to sclerotherapy, recurrent after surgery or more extensive malformations that affect vital structures. Other therapeutic options as sildenafil and laser ablation are also recognized as effective in selected cases. CONCLUSIONS: Looking through the literature over the last decade authors realize that surgery had gradually been replaced by less invasive options such as sirolimus with or without adjuvant sclerotherapy. In conclusion, each treatment option seems to have its own indications and characteristics, which must be considered in therapeutic decision and individualized for each patient.

Long-term survival after choriocarcinoma transmitted by liver graft: A successful report in pediatric transplantation.

BACKGROUND: LT is the standard of care for many pediatric liver disorders. Although long-term outcomes have improved, some rare complications such as transmission of occult donor tumors have been reported. CASE REPORT: An adolescent diagnosed with tyrosinemia was submitted to LT from a previous healthy donor due to HCC. Almost 8 months after LT, the patient presented a nodular hepatic lesion. Clinically, he had mild weight loss, lower limb edema, and gynecomastia. Thorax CT found lesions in the left lung parenchyma, which showed no increased uptake in PET SCAN. Liver biopsy revealed a carcinoma with desmoplastic stroma. ISS was withdrawn, and palliative chemotherapy was started for presumptive HCC relapse. AFP remained normal, but HCG had reached unexpected values of 1984 IU/L. As we requested detailed information about the other organ recipients from the same donor, we found that one of them passed away due to disseminated tumor. Five months after the beginning of chemotherapy, the patient underwent resection of liver segments V and VI. Histological examination confirmed liver metastatic choriocarcinoma. At the time of writing, with 11 years of follow-up, the patient had sustained remission with no signs of relapse. DISCUSSION: This case reports a diagnostic challenge in an adolescent with a particular unique background and a very rare pattern of tumor transmission. The authors aim to highlight the risk of cancer-bearing organs reveled post-LT and to testimony the experience of the successful outcome after a choriocarcinoma transmitted by liver graft.

Automatic Assessment of Pectus Excavatum Severity From CT Images Using Deep Learning.

Pectus excavatum (PE) is the most common abnormality of the thoracic cage, whose severity is evaluated by extracting three indices (Haller, correction and asymmetry) from computed tomography (CT) images. To date, this analysis is performed manually, which is tedious and prone to variability. In this paper, a fully automatic framework for PE severity quantification from CT images is proposed, comprising three steps: (1) identification of the sternum's greatest depression point; (2) detection of 8 anatomical keypoints relevant for severity assessment; and (3) measurements' geometric regularization and extraction. The first two steps rely on heatmap regression networks based on the Unet++ architecture, including a novel variant adapted to predict 1D confidence maps. The framework was evaluated on a database with 269 CTs. For comparative purposes, intra-observer, inter-observer and intra-patient variability of the estimated indices were analyzed in a subset of patients. The developed system showed a good agreement with the manual approach (a mean relative absolute error of 4.41%, 5.22% and 1.86% for the Haller, correction, and asymmetry indices, respectively), with limits of agreement comparable to the inter-observer variability. In the intra-patient analysis, the proposed framework outperformed the expert, showing a higher reproducibility between indices extracted from distinct CTs of the same patient. Overall, these results support the feasibility of the developed framework for the automatic, accurate and reproducible quantification of PE severity in a clinical context.

Minimally Invasive Neck Surgery: An Animal Model Study.

Background: Minimally invasive surgery (MIS) is replacing conventional surgery as the "gold standard" in different surgical areas. Although cervical MIS is already accepted in the adult population, its use in children is still new and controversial. The natural obstacles to this approach are the absence of a natural cavity, with the inherent complications of creating one artificially, and the limited existing workspace especially in pediatric patients. All endoscopic techniques in the field of neck surgery try to live up to the high cosmetic expectations and the transoral cervical approach as a natural orifice surgery technique excels at it. Aim: Besides the goal of feasibility, we aim to report on the pitfalls of this approach, by using an experimental rabbit model for minimally invasive thyroidectomy. Materials and Methods: Transoral endoscopic thyroidectomies using a vestibular approach were performed in 10 anesthetized rabbits. All surgeries were video recorded. The surgical time, anatomy identified, difficulties, and intraoperative complications were documented. Results: Through one trocar in the vestibular area and two lateral stab incisions, it was possible to create a working space and to reach the peritracheal area. Total thyroidectomies were completed in the 10 animals with a mean operative time of 51 minutes. In all of them we were able to identify the fascial spaces of the neck and the major vessels. During surgery, the lack of space required surgical gestures to be very precise, soft, and gentle. There were 2 cases with a small amount of bleeding and one mild trachea laceration during the procedure, but none of them required suspension or conversion to an open procedure. Animals were euthanized immediately after the surgical procedure. Conclusions: The vestibular approach seems to be a feasible technique to access pediatric neck pathology. Despite the differences in the cervical anatomy, the limited workspace of the rabbit model perfectly matches the requirements of a pediatric training model.

Isolated torsion of a fallopian tube: an uncommon cause of abdominal pain in an 11-year-old.

This report describes a rare case of isolated fallopian tube torsion (IFTT) in a premenarchal 11-year-old girl. The patient presented with subacute abdominal pain, associated with nausea and vomiting. Sonographic findings revealed left tube enlargement with free intraperitoneal fluid. Doppler mapping was not unequivocal. During exploratory laparoscopy, a large pelvic necrotic mass was found to be a twisted left fallopian tube. After detorsion, salpingectomy was performed and the patient recovered promptly, showing no complications 3 months post operation. IFTT should be considered as a differential diagnosis of lower abdominal pain in adolescent girls with normal-appearing ovaries on ultrasound. Conservative management for fertility preservation is the ideal approach. Therefore, avoiding delay in laparoscopy is crucial.

Successful liver transplantation using a whole liver graft with gallbladder agenesis: First report in pediatric liver transplantation.

INTRODUCTION: Gallbladder agenesis (GA) is a rare congenital condition, occurring in approximately 40/100.000. It is likely due to an embryologic mishap in the development of the gallbladder bud and can be associated with other congenital variations in biliary anatomy. However, the liver likely suffers no functional impairment and can be safely used for transplantation. To the best of our knowledge, this is the first case report describing a pediatric liver transplantation (PLT) using a graft with GA. CASE REPORT: A 10-year-old boy with methylmalonic aciduria underwent isolated liver transplant with a deceased graft from a donor with no relevant medical or surgical history and normal laboratory tests. During the back-table liver preparation procedure, no evidence of gallbladder was found, raising the possibility of a GA, confirmed by intraoperative cholangiography. The liver transplantation procedure was uneventful despite the particularly rare combination of biliary tree anatomic distribution found in the cholangiography. At 1 year of follow-up, there were no clinical, laboratory, or imagological signs of bile leaks or anastomotic site stricture. DISCUSSION: The present report highlights the importance of the accurate knowledge of the vasculobiliary anatomic variation, particularly in extremely rare cases, such as GA, and in complex hepatobiliary procedures, such as PLT. In our opinion, grafts with GA should not be discarded for transplantation.

[Evaluation of The Medical Board Exam in Portugal]. / Avaliação do Exame Final do Internato Médico em Portugal.

INTRODUCTION: There is a high heterogeneity in the structure of postgraduate medical training evaluation worldwide. However, in contrast to other countries, there have been no scientific studies of the final medical board examination, in Portugal. The present study aimed to evaluate the adequacy of the medical board examination including its validity as measured by its association with medical school grade average and national seriation examination. MATERIAL AND METHODS: Cross-sectional, observational study. We analyzed the final results on the medical board examination of 2439 physicians, across 47 specialties, who completed their training in 2016 and 2017, using measures of central tendency and variability. We assessed the association between these grades and the national exam to initiate residency, and the grade average in Medical School. RESULTS: Measures of central tendency and variability, and consequent shape measures, revealed that the distribution of the scores of the final medical board exam is extremely negatively asymmetric and leptokurtic. A positive association was also found between the results in this exam and the score on national exam to initiate residency, and the grade average in Medical School. CONCLUSION: Although the medical board examination was, in general, positively associated with scores on the national exam to initiate residency, and the mean final Medical School grades, thus indicating its potential validity, our results demonstrate that this exam presents no satisfactory discriminative capacity. Therefore, there is room to improve the actual postgraduate medical examination model, including changes in its classification system and potentially consider other assessment models.

Introdução: Existe uma elevada heterogeneidade na estrutura da avaliação da formação médica pós-graduada a nível mundial. No entanto, contrastando com outros países, não existem estudos científicos em Portugal que tenham avaliado o modelo da avaliação final da especialidade. O presente estudo pretendeu avaliar a adequação do exame do final da especialidade aos seus propósitos; aí incluída a sua validade enquanto consubstanciada na relação com a prova nacional de seriação e média final de curso de medicina. Material e Métodos: Estudo transversal, observacional. Foram analisadas com recurso a medidas de tendência central e variabilidade, as notas na avaliação final da especialidade de 2439 médicos, de 47 especialidades, que terminaram a sua formação em 2016 e 2017. Tendo em vista a sua validação cruzada, foram também avaliadas as correlações com a média final de curso e a nota na prova nacional de seriação. Resultados: Das medidas de tendência central e variabilidade, e consequentes medidas de formato, resulta que a distribuição das pontuações do exame final de especialidade se apresenta com uma forma manifestamente assimétrica negativa e leptocúrtica. No geral, verificou-se a existência de uma associação positiva entre a avaliação final da especialidade e a média de curso e a prova nacional de seriação. Conclusão: Apesar de positivamente associado, no geral, com a média de curso e a prova nacional de seriação, o que indica a sua potencial validade, os resultados demonstram que a avaliação final de especialidade não apresenta uma capacidade discriminativa satisfatória. Deste modo, existe oportunidade para melhoria do modelo atual, nomeadamente através da alteração ao seu sistema de classificação e considerando outros modelos de exame.

Pectus Carinatum Evaluation Questionnaire (PCEQ): a novel tool to improve the follow-up in patients treated with brace compression.

OBJECTIVES: A questionnaire (Pectus Carinatum Evaluation Questionnaire, PCEQ) was developed to be applied in follow-up of patients with Pectus Carinatum (PC). After validation of the PCEQ, we aimed to quantify the compliance to brace compression and to assess factors that could influence this treatment in patients with PC. METHODS: From July 2008 to July 2014, 56 patients with PC were treated with the Calgary Protocol of compressive bracing at Paediatric Surgery Department of Hospital São João. Forty patients (71%) completed the questionnaire. The PCEQ was divided into four sections: (i) compliance; (ii) symptoms; (iii) social influence; (iv) activities. For the validation process of the PCEQ, principal components analysis (PCA), orthogonal varimax or oblimin rotation and Cronbach's α coefficient were used. To evaluate the association between compliance and other sections of the questionnaire, we estimated the Pearson's correlation between compliance factor scores ('Compliance Days' and 'Compliance Hours') and the final score of each new questionnaire component identified by PCA ('Chest Pain', 'Dyspnoea', 'Back Pain', 'Parents' Influence', 'Friends' Influence', 'Activities', 'Time To Compliance'). For the sections 'Symptoms', 'Social Influence' and 'Activities', we estimated final scores as the sum of the questions that constitute each component. For the section 'Compliance', the factor scores were estimated by the regression method. RESULTS: After PCA analysis, the PCEQ found nine different components with high reliability. When analysing the compliance of our study group, the final score for 'Activities' revealed a significant correlation with the factor score for 'Compliance Hours' (r = 0.382, P = 0.015). The final score for 'Time To Compliance' showed a significant correlation with both factor scores for 'Compliance Hours' (r = -0.765, P < 0.001) and 'Compliance Days' (r = -0.345, P < 0.029). CONCLUSIONS: The PCEQ seems to be an important tool to follow up patients with PC treated by brace compression. Practical steps, such as developing a tight schedule in the early follow-up period or applying the PCEQ in first visits after initiating brace therapy, can be taken in order to increase compliance with brace therapy and improve the quality of life.