Pseudoangiomatous Stromal Hyperplasia in Pediatric Age: A Case Report and Review of Literature

Pseudoangiomatous stromal hyperplasia (PASH) is a rare benign disease, characterized by abnormal proliferation of fibroglandular stroma. It was first described in 1986. The authors present a case of a twelve year-old girl with a history of kidney transplantation due to nephrotic syndrome with rapidly progressive and painful breast asymmetry with approximately six months duration. No lymphadenopathy or other signs or symptoms were associated. Ultrasound didn’t reveal specific findings. Breast magnetic resonance (MR) showed a massive heterogeneous nodular mass with regular contours and contrast enhancement. Given the degree of breast asymmetry as well as the patient’s symptoms, surgical excision of the tumor was preferred over core biopsy. Histopathological and immunohistochemical examination showed pseudoangiomatous stromal hyperplasia. The authors describe the clinical presentation, imaging and histological features as well as therapeutic approach in these patients

Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry

Mitochondrial diseases (MD) are the most frequent inborn errors of metabolism. In affected tissues, MD can alter cellular oxygen consumption rate leading to potential decreases in whole-body resting energy expenditure (REE), but data on pediatric children are absent. We determined, using indirect calorimetry (IC), whole-body oxygen consumption (VO2), carbon dioxide production (VCO2), respiratory quotient (RQ) and REE in pediatric patients with MD and healthy controls. Another goal was to assess the accuracy of available predictive equations for REE estimation in this patient population. IC data were obtained under fasting and resting conditions in 20 MD patients and 27 age and gender-matched healthy peers. We determined the agreement between REE measured with IC and REE estimated with Schofield weight and FAO/WHO/UNU equations. Mean values of VO2, VCO2 (mL·min-1·kg-1) or RQ did not differ significantly between patients and controls (P = 0.085, P = 0.055 and P = 0.626 respectively). Accordingly, no significant differences (P = 0.086) were found for REE (kcal·day-1 kg-1) either. On the other hand, although we found no significant differences between IC-measured REE and Schofield or FAO/WHO/UNU-estimated REE, Bland-Altman analysis revealed wide limits of agreement and there were some important individual differences between IC and equation-derived REE. VO2, VCO2, RQ and REE are not significantly altered in pediatric patients with MD compared with healthy controls. The energy demands of pediatric patients with MD should be determined based on IC data in order to provide the best possible personalized nutritional management for these children.

Exercise intervention in pediatric patients with solid tumors: The PAPEC trial

The randomized controlled trial ‘Physical Activity in Pediatric Cancer’ (PAPEC) determined the effects of an in-hospital exercise intervention combining aerobic and muscle strength training on pediatric cancer patients with solid tumors undergoing neoadjuvant chemotherapy. Methods. Participants were allocated to an exercise (n=24, 17 boys; mean±SEM age 10±1y) or control group (n=25, 18 boys; 11±1y). Training included three sessions/week for 19±2 weeks. Participants were assessed at treatment initiation, termination, and two months after end-treatment. The primary endpoint was muscle strength (as assessed by upper and lower-body five-repetition-maximum (5RM) tests). Secondary endpoints included cardiorespiratory fitness, functional capacity during daily life activities, physical activity, body mass and body mass index, and quality of life. Results. Most sessions were performed in the hospital’s gymnasium. Adherence to the program averaged 68±4% and no major adverse events or health issues were noted. A significant interaction (group*time) effect was found for all 5RM tests. Performance significantly increased after training (leg press: 40% (95% CI=15–41 kg); bench press: 24% (95% CI=6–14 kg); lateral row 25% (95%CI=6–15 kg)), whereas an opposite trend was found in controls. Two-month post values tended to be higher than baseline for leg (P=0.017) and bench press (P=0.014). In contrast, no significant interaction effect was found for any of the secondary endpoints. Conclusion. An in-hospital exercise program for pediatric cancer patients with solid tumors undergoing neoadjuvant treatment increases muscle strength despite the aggressiveness of such therapy. Key words: Cancer, exercise, muscle strength, fitness, quality of life.

Virtual knowledge brokering : describing the roles and strategies used by knowledge brokers in a pediatric physiotherapy virtual community of practice

Introduction: Knowledge transfer in pediatric rehabilitation is challenging and requires active, multifaceted strategies. The use of knowledge brokers (KBs) is one such strategy noted to promote clinician behavior change. The success of using KBs to transfer knowledge relies on their ability to adapt to ever-changing clinical contexts. In addition, with the rapid growth of online platforms as knowledge transfer forums, KBs must become effective in virtual environments. Although the role of KBs has been studied in various clinical contexts, their emerging role in specific online environments designed to support evidence-based behavior change has not yet been described. Our objective is to describe the roles of, and strategies used by, four KBs involved in a virtual community of practice to guide and inform future online KB interventions. Methods: A descriptive design guided this study and a thematic content analysis process was used to analyze online KB postings. The Promoting Action on Research in Health Sciences knowledge transfer framework and online andragogical learning theories assisted in the coding. A thematic map was created illustrating the links between KBs' strategies and emerging roles in the virtual environment. Results: We analyzed 95 posts and identified three roles: 1) context architect: promoting a respectful learning environment, 2) knowledge sharing promoter: building capacity, and 3) linkage creator: connecting research-to-practice. Strategies used by KBs reflected invitational, constructivism, and connectivism approaches, with roles and strategies changing over time. Discussion: This study increases our understanding of the actions of KBs in virtual contexts to foster uptake of research evidence in pediatric physiotherapy. Our results provide valuable information about the knowledge and skills required by individuals to fulfill this role in virtual environments.

Nursing students' perceptions of community pediatric experiences.

Over the last decade health care delivery has shifted from hospitals to the community resulting in a significant reduction of hospital-based clinical placements for nursing students to practice and learn. Studies have emerged describing this problem and outlining the ways in which Colleges and Universities have attempted to deal with the acute shortage of clinical areas in nursing and other health care programs. Several studies describe the development of community-based clinical experiences, and some of these examinated students' perceptions. One finding appears to be constant: student perceptions of community experiences have an effect on their settings both to contend with the shortage of hospital-based placements and to prepare students for future practice.

Estado de las enfermedades raras que cursan con discapacidad intelectual en Colombia

Las enfermedades raras o huérfano son una problemática que ha tomado mucha importancia en el contexto mundial del presente siglo, estas se han definido como crónicas, de difícil tratamiento de sus síntomas y con baja prevalencia en la población; muchas de estas enfermedades cursan con varios tipos de discapacidad, siendo el objetivo del presente trabajo el enfocarse en aquellas enfermedades raras que cursan con discapacidad intelectual. Para poder profundizar en estas enfermedades se realizó una revisión teórica sobre las enfermedades raras, así como de la discapacidad psíquica y su importancia a nivel mundial y nacional. A partir de estas definiciones, se revisaron en profundidad 3 enfermedades raras que cursan con discapacidad intelectual en el contexto colombiano, como son: el síndrome de Rett, el síndrome de Prader-Willi y el síndrome de X frágil. En cada una de estas enfermedades además se explicaron los tipos de diagnóstico, intervención, prevención, grupos de apoyo y tipos de evaluación que más se usan en el contexto nacional

Caracterización de la función cognitiva de niños con síndrome de down de 5 a 12 años en la ciudad de Bogotá

Los niños que padecen trisomía 21 poseen una serie de características físicas, neurológicas y neuropsicológicas específicas, las cuales han sido investigadas a profundidad en diferentes países, de lo cual se han desarrollado protocolos de evaluación para estos niños acorde a su nacionalidad (García, 2010). A pesar de que Colombia es uno de los países en los cuales el síndrome de Down se presenta con mayor frecuencia, hasta la fecha, no se encuentran estudios que enfaticen en las habilidades neuropsicológicas de esta población específica, por lo cual no se han desarrollado protocolos de evaluación adecuados para los niños con síndrome este síndrome. Esta investigación se llevó acabo con una población de 88 niños a los cuales se les aplicó el inventario de desarrollo BATTELLE, y se identificó que los niños con síndrome Down de 5 a 12 años obtienen un puntaje que se encuentra en 4 desviaciones estándar por debajo de la media típica. Lo anterior demuestra una característica específica de esta población en cuanto a patrones de desarrollo en las cuales, se evidencia dificultad más importante en las área cognición y de la comunicación expresiva. Con respecto a los intervalos de edad se identificó que a lo largo de estos el desempeño en las áreas evaluadas decrece. esto puede estar relacionado con la mayor complejidad de los hitos del desarrollo para una edad esperada. Debido a que los hitos del desarrollo esperados varían a lo largo de los periodos del ciclo vital del ser humano, estos tienden a aumentar su complejidad en etapas del desarrollo más avanzados; como estos niños poseen una serie de dificultades en las funciones ejecutivas y cognición, no lograrán alcanzar dichos hitos del desarrollo.

The use of expandable megaprostheses for reconstruction of the distal femur in pediatric patients after bone tumor resection

Expandable prostheses are becoming increasingly popular in the reconstruction of children with bone sarcomas of the lower limb. Since the introduction of effective chemotherapy in the treatment of these pathologies, in the 70s, there has been need for new limb salvage techniques. In children, limb salvage of the lower limbs is particularly challenging, not in the last place, because of the loss of growth potential. Therefore, expandable prostheses have been developed. However, the first experiences with these implants were not very successful. High complication rates and unpredictable outcomes raised major concerns on this innovative type of reconstruction. The rarity of the indication is one of the main reasons why there has been a relatively slow learning curve and implant development regarding this type of prosthesis. This PhD thesis, gives an overview of the introduction, the development, the current standards, and the future perspectives of expandable prostheses for the reconstruction of the distal femur in children.

Proton radiotherapy: a therapeutic opportunity for pediatric brain tumor patients

Proton radiation therapy is a form of external radiation that uses charged particles which have distinct physical advantages to deliver the majority of its dose in the target while minimizing the dose of radiation to normal tissues. In children who are particularly susceptible even at low and medium doses of radiation, the significant reduction of integral dose can potentially mitigate the incidence of side effects and improve quality of life. The aim of the first part of the thesis is to describe the physical and radiobiological properties of protons, the Proton Therapy Center of Trento (TCPT) active for clinical purpose since 2014, which use the most recent technique called active pencil beam scanning. The second part of the thesis describes the preliminary clinical results of 23 pediatric patients with central nervous system tumors as well as of two aggressive pediatric meningiomas treated with pencil beam scanning. All the patients were particularly well-suited candidates for proton therapy (PT) for possible benefits in terms of survival and incidence of acute and late side effects. We reported also a multicentric experience of 27 medulloblastoma patients (median age 6 years, M/F ratio 13/14) treated between 2015 and 2020 at TPTC coming from three Pediatric oncology centers: Bologna, Florence, and Ljubljana, with a focus on clinical results and toxicities related to radiotherapy (RT). Proton therapy was associated with mostly mild acute and late adverse effects and no cases of CNS necrosis or high grade of neuroradiological abnormailities. Comparable rates of survival and local control were obtained to those achievable with conventional RT. Finally, we performed a systematic review to specifically address the safety of PT for pediatric CNS patients, late side effects and clinical effectiveness after PT in this patient group.

Nuclear shape instability caused by lamin A deregulation promotes invasiveness in pediatric bone sarcomas: from nucleo-cytoskeleton dynamics to novel therapeutic opportunities

Osteosarcoma (OS) and Ewing sarcoma (EWS) are the two most frequent primary bone tumors, in which metastases remain the most relevant adverse prognostic factor. Lamin A is the main constituent of the nuclear lamina, with a fundamental role in maintaining the connection between nucleus and cytoskeleton (through LINC complex proteins interactions), and its alterations can be implicated in tumor progression. We investigated how nucleo-cytoskeleton dynamics is influenced by lamin A modulation in OS and EWS, demonstrating that both these cancer models had low levels of lamin A, which are linked to a significantly more marked nuclear misshaping. In our in vitro studies, reduced levels of lamin A promoted migratory abilities in these tumors. Moreover, these findings were corroborated by gene expression analyses on EWS patient samples, showing that LMNA levels were significantly lower in metastatic lesions compared to primary tumors and that patients with low LMNA had a significant worse overall survival. We also found that LMNA expression significantly impaired EWS metastases formation in vivo. We demonstrated that low lamin A expression was linked to a severe mislocalization of LINC complex proteins, thus disrupting nucleo-cytoskeleton interactions, with a corresponding gain in malignant properties, which resulted in increased invasiveness. Lamin A overexpression or its accumulation by a statin-based pharmacological treatment allowed us to reconstitute a functional nucleo-cytoskeleton interplay, which resulted in significant downmodulation of ROCK2 and YAP, two crucial drivers of EWS aggressiveness. Our study demonstrated that lamin A is a favorable mediator of nuclear shape stability in bone sarcomas, and its modulation rescues LINC complex protein localization and regulates mechano-signaling pathways, thus promoting a less aggressive cancer phenotype. We also identified statins, already employed in clinical practice, as a tool capable to increase lamin A levels, and to reconstitute functional nucleo-cytoskeletal dynamics, resulting in reduced cellular migration.

Pedagogy of healthcare interactions. A study on pediatric well-child visits as culture-oriented and culture-making sites

This study investigates interactions between parents and pediatricians during pediatric well-child visits. Despite constituting a pivotal moment for monitoring and evaluating children’s development during the critical ‘first thousand days of life’ and for family support, no study has so far empirically investigated the in vivo realization of pediatrician-parent interactions in the Italian context, especially not from a pedagogical perspective. Filling this gap, the present study draws on a corpus of 23 videorecorded well-child visits involving two pediatricians and twenty-two families with children aged between 0 and 18 months. Combining an ethnographic perspective and conversation analysis theoretical-analytical constructs, the micro-analysis of interactions reveals how well-child visits unfold as culture-oriented and culture-making sites. By zooming into what actually happens during these visits, the analysis shows that there is much more than the “mere” accomplishment of institutionally relevant activities like assessing children’s health or giving parents advice on baby care. Rather, through the interactional ways these institutional tasks are carried out, parents and pediatricians presuppose, ratify, and transmit culturally-informed models of “normal” growth, “healthy” development, “good” caring practices, and “competent” parenting, thereby enacting a pervasive yet unnoticed educational and moral work. Inaugurating a new promising line of inquiry within Italian pedagogical research, this study illuminates how a) pediatricians work as a “social antenna”, bridging families’ private “small cultures” and broader socio-cultural models of children’s well-being and caregiving practices, and b) parents act as agentive, knowledgeable, (communicatively) competent, and caring parents, while also sensitive to the pediatrician’s ultimate epistemic and deontic authority. I argue that a video-based, micro-analysis of interactions represents a heuristically powerful instrument for raising pediatricians’ and parents’ awareness of the educational and moral density of well-child visits. Insights from this study can constitute a valuable empirical resource for underpinning medical and parental training programs aimed at fostering pediatricians’ and parents’ reflexivity.

Modeling of clear cell sarcoma of the kidney of the pediatric age

Clear cell sarcoma of the kidney (CCSK) is the second most common pediatric renal tumor, characterized in 90% of cases by the presence of internal tandem duplications (ITDs) localized at the last exon of BCOR gene. BCOR protein constitute a core component of the non-canonical Polycomb Repressive Complex1 (PRC1.1), which performs a fundamental silencing activity. ITDs in the last BCOR exon at the level of PUFD domain have been identified in many tumor subtypes and could affect PCGF1 binding and the subsequent PRC1.1 activity, although the exact oncogenic mechanism of ITD remains poorly understood. This project has the objective of investigating the molecular mechanisms underlying the oncogenesis of CCSK, approaching the study with different methodologies. A first model in HEK-293 allowed to obtain important informations about BCOR functionality, suggesting that the presence of ITD generates an altered activity which is very different from a loss-of-function. It has also been observed that BCOR function within the PRC1.1 complex varies with different ITDs. Moreover, it allowed the identification of molecular signatures evoked by the presence of BCOR-ITD, including its role in extracellular matrix interactions and invasiveness promotion. The parallel analysis of WTS data from 8 CCSK cases permitted the identification of a peculiar signature for metastatic CCSKs, highlighting a 20-fold overexpression of FGF3. This factor promoted a significant increase in invasive ability in the cellular model. In order to study BCOR-ITD effects over cell stemness and differentiation, an inducible model is being obtained in H1 cells. This way, it will be possible to study the functionality of BCOR-ITD in a context more similar to the origin of CCSKs, evaluating both the specific interactome and phenotypic consequences caused by the mutation.

Framing climate change: a planetary health perspective on the pediatric age

This thesis analyzes an analysis of the risk perception of Italian paediatricians and parents regarding the impact of climate change on pediatric health. The consequences of climate change are now before our eyes; the recent pandemic has highlighted the impact that the destruction of ecosystems and global warming can have on our health. Fragile subjects will pay the most for the consequences of this crisis: children, the elderly, pregnant women. According to the World Health Organization (WHO), 88% of the disease burden linked to climate change falls on children under the age of 5. Climate change poses a challenge of equity not only between different areas of the world but also between generations: the worst consequences will weigh on those who have not caused damage to the ecosystem. This study began by studying the risk perceptions of the two main caregivers who deal with the child's health: parents and paediatricians. The study analyzed a mixed methods approach, exploiting quantitative and qualitative approaches. Two surveys were carried out in collaboration with the Italian Society of Pediatrics (SIP) and AGE, the Italian Parents' Association, using a tool already consolidated in the literature and adapted according to the needs of the thesis. Sixty semi-structured interviews were then conducted with pediatricians of different age groups and different regions of Italy. The collected data were then compared with the literature on the subject, in order to understand differences and similarities. This work is part of a still rather scarce, but growing, field of literature and represents the first study of this type in Italy.

Hemorrhagic Shock Secondary To Button Battery Ingestion.

Button battery ingestion is a frequent pediatric complaint. The serious complications resulting from accidental ingestion have increased significantly over the last two decades due to easy access to gadgets and electronic toys. Over recent years, the increasing use of lithium batteries of diameter 20 mm has brought new challenges, because these are more detrimental to the mucosa, compared with other types, with high morbidity and mortality. The clinical complaints, which are often nonspecific, may lead to delayed diagnosis, thereby increasing the risk of severe complications. A five-year-old boy who had been complaining of abdominal pain for ten days, was brought to the emergency service with a clinical condition of hematemesis that started two hours earlier. On admission, he presented pallor, tachycardia and hypotension. A plain abdominal x-ray produced an image suggestive of a button battery. Digestive endoscopy showed a deep ulcerated lesion in the esophagus without active bleeding. After this procedure, the patient presented profuse hematemesis and severe hypotension, followed by cardiorespiratory arrest, which was reversed. He then underwent emergency exploratory laparotomy and presented a new episode of cardiorespiratory arrest, which he did not survive. The battery was removed through rectal exploration. This case describes a fatal evolution of button battery ingestion with late diagnosis and severe associated injury of the digestive mucosa. A high level of clinical suspicion is essential for preventing this evolution. Preventive strategies are required, as well as health education, with warnings to parents, caregivers and healthcare professionals.

Migraine Equivalents In Childhood.

Migraine equivalents are a group of periodic and paroxysmal neurologic diseases. Because headache is not a prominent symptom, the diagnosis might be challenging. The objective of the study was to evaluate the frequency and outcome of migraine equivalents. This was a retrospective study. We included benign paroxysmal torticollis of infancy, benign paroxysmal vertigo of infancy, abdominal migraine, cyclic vomiting, aura without migraine, and confusional migraine. We evaluated the frequency of events, treatment, and outcome. Out of 674 children with headache, 38 (5.6%) presented with migraine equivalents. Twenty-one were boys and the mean age was 6.1 years. Fifteen had abdominal migraine, 12 benign paroxysmal vertigo, 5 confusional migraine, 3 aura without migraine, 2 paroxysmal torticollis, and 1 cyclic vomiting. Prophylactic treatment was introduced in 23 patients; 4 lost follow-up and 19 had significant improvement. We conclude that the correct diagnosis of migraine equivalents enables an effective treatment with an excellent outcome.