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Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a rare condition associated with vascular anomalies and increased tumor risk. Sirolimus, an mTOR inhibitor used for managing vascular anomalies is underexplored in PHTS. A single-institution retrospective review of children with PHTS and vascular anomalies treated with sirolimus identified seven patients. Median age at sirolimus initiation was 10 years. After a median 2.5-year follow-up, six of seven patients (86%) showed significant clinical improvement. No significant adverse effects were observed, except mild buccal ulcers and acne. This study supports sirolimus as an effective and safe treatment for vascular anomalies in a small group of children with PHTS.
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Background: Throughout the COVID-19 pandemic there has been a documented decline in reports to child protective services, despite an increased incidence of child maltreatment. This is concerning for increasing missed cases. This study aims to examine if and how Canadian paediatricians are identifying maltreatment in virtual medical appointments. Methods: A survey was sent through the Canadian Paediatric Surveillance Program (CPSP) to 2770 practicing general and subspecialty paediatricians. Data was collected November 2021 to January 2022. Results: With a 34% (928/2770) response rate, 704 surveys were eligible for analysis. At least one case of child maltreatment was reported by 11% (78/700) of respondents following a virtual appointment. The number of cases reported was associated with years in medical practice (P = 0.026) but not with the volume (P = 0.735) or prior experience (P = 0.127) with virtual care, or perceived difficulty in identifying cases virtually (Cramer's V = 0.096). The most common factors triggering concern were the presence of social stressors, or a clear disclosure. The virtual physical exam was not contributory. Nearly one quarter (24%, 34/143) required a subsequent in-person appointment prior to reporting the case and 32% (207/648) reported concerns that a case had been identified late, or missed, following a virtual appointment. Some commented that clear harm resulted. Conclusions: Many barriers to detecting child maltreatment were identified by paediatricians who used virtual care. This survey reveals that virtual care may be an important factor in missed cases of child maltreatment and may present challenges to timely identification.
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Objective: To retrospectively correlate imaging findings post-sclerotherapy of low-flow vascular malformations with clinical outcome. Materials and Methods: We retrospectively evaluated 81 pediatric patients who had sclerotherapy in our department over a 14-year period. Patients with a diagnosis of low-flow vascular malformation, pre and post-treatment ultrasound (US) and clinical follow-up evaluation were included in the study. Exclusion criteria were coexisting high-flow vascular malformations, history of additional surgical or medical treatment to their malformation and large infiltrative lesions difficult to measure on US. Pre and post-treatment sonographic volumes of the malformation were assessed. Changes in volume were categorized into 6- increased volume, stable and volume decrease of 1-25%/26-50%/51-75%/75-100%. Clinical outcomes were categorized into 4 - worse, no change, improved and symptom free. In cases where pre-treatment MRI was available, the estimated malformation volumes in both modalities were correlated using Spearman's rank correlation. The change in sonographic volume was correlated with clinical outcome using Spearman's rank correlation. P-values < .05 were considered significant. Results: Twenty-nine patients were included in the study; 13 with venous malformation (VM), and 16 with lymphatic malformation (LM). Nineteen patients had both pre-treatment US and MRI, showing correlation in volume between the 2 modalities (P < .001). Post-treatment change in volume correlated with clinical outcome for combined venous and LMs (rho = .44, P = .02). No correlation was found when venous (rho = .48, P = .09) and lymphatic (rho = .33, P = .21) malformations were considered separately. Conclusion: Ultrasound can potentially be used as an objective tool in evaluating sclerotherapy treatment response of low-flow vascular malformations in the pediatric population.
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Escleroterapia , Malformaciones Vasculares , Niño , Humanos , Escleroterapia/efectos adversos , Escleroterapia/métodos , Soluciones Esclerosantes/uso terapéutico , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Vascular anomalies are heterogeneous conditions that affect blood and/or lymphatic vessels. Affected children may experience pain, functional loss, infection, coagulopathies, and psychological challenges. Diagnosis and management often warrant an interdisciplinary approach. There are seven vascular anomalies clinics in Canada that offer interdisciplinary care. This practice point outlines a treatment approach for the most common paediatric vascular anomaly (hemangioma). It reviews indications for referral to a specialized clinic, with focus on complex vascular anomalies, specifically infantile hemangioma, which can pose complications.
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Les anomalies vasculaires sont des affections hétérogènes qui touchent les vaisseaux sanguins ou lymphatiques. Les enfants atteints peuvent éprouver de la douleur ou une perte fonctionnelle, présenter une infection ou une coagulopathie ou être confrontés à des difficultés psychologiques. Le diagnostic et la prise en charge exigent souvent une approche interdisciplinaire. Sept cliniques d'anomalies vasculaires au Canada offrent des soins interdisciplinaires. Le présent point de pratique propose une approche thérapeutique des anomalies vasculaires pédiatriques les plus fréquentes (hémangiomes). On y passe en revue les indications de diriger les patients vers une clinique spécialisée, en s'attardant sur les anomalies vasculaires complexes, et notamment les hémangiomes infantiles, qui peuvent provoquer des complications.
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INTRODUCTION: Genetically targeted drugs in vascular anomalies (VA) are used despite the absence of a validated severity score. The aim of this study was to evaluate the feasibility of grouping phenotypic VA clinical characteristics into a single severity score. METHODS: A systematic literature review including children treated with sirolimus accompanied by a detailed description of phenotype and management was conducted. Demographic data and clinical features were extracted to define distinct categories of phenotypes. RESULTS: Children with VA display two main phenotypes regardless of VA subtype, which may overlap. A systemic phenotype results from direct invasion and compression of vital structures generally leading to hospitalization and aggressive management in infancy. A functional phenotype is associated with chronic pain and disability manifesting mainly during early adolescence and managed in the outpatient setting. CONCLUSION: The two distinct phenotypes described could be the basis for developing a unified scoring system for VA severity assessment.
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Malformaciones Vasculares , Humanos , Fenotipo , Sirolimus/uso terapéutico , Malformaciones Vasculares/complicaciones , Malformaciones Vasculares/genética , Malformaciones Vasculares/terapiaRESUMEN
Long before the classification of vascular anomalies from the International Society for the Study of Vascular Anomalies (ISSVA) provided a framework to differentiate vascular anomalies, otherwise known as vascular birthmarks, it was recognized that patients with such lesions can present with acute life-threatening hemostatic and/or thrombotic complications, as well as chronic long-standing bleeding or thrombotic issues. Scenarios such as a rapidly growing vascular lesion with severe acute thrombocytopenia, a visceral hemorrhagic lesion, a lesion associated with repetitive and painful superficial thrombosis, and cases of unprovoked or post-procedural fatal pulmonary embolism highlight the wide spectrum of manifestations of abnormal coagulation in patients with vascular anomalies. The separation of vascular anomalies into two distinct groups, vascular tumors and vascular malformations, was followed by the characterization that their respective coagulopathies were due to either a derangement of platelets or to a disequilibrium of the patient's coagulation/fibrinolytic process. This configuration of coagulopathies will be the foundation for this two-chapter review series. In the initial review, coagulopathies where thrombocytopenia is the main feature will be characterized, whereas the second review will focus on vascular malformations that have a coagulation disorder secondary to some degree of coagulation consumption and/or fibrinolytic pathway derangement.
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Anemia , Trastornos de la Coagulación Sanguínea , Trombocitopenia , Malformaciones Vasculares , Niño , Hemostasis , Humanos , Malformaciones Vasculares/complicaciones , Malformaciones Vasculares/diagnósticoRESUMEN
Since publication of a single case report of lymphatic malformation improvement during sildenafil therapy for pulmonary hypertension, sildenafil use has propagated across multiple vascular anomalies diagnoses. Vascular anomalies are rare conditions, often with poor long-term outcomes from available therapies, making these patients vulnerable to novel therapy use. We have retrospectively reviewed 14 children with vascular anomalies treated with sildenafil. None of these patients reported improvement of disease while on treatment and some reported side effects including infections and bleeding. Pending more convincing prospective data, we recommend caution prior to sildenafil use for vascular anomalies.
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Hemorragia/inducido químicamente , Infecciones/inducido químicamente , Anomalías Linfáticas/tratamiento farmacológico , Inhibidores de Fosfodiesterasa 5/efectos adversos , Citrato de Sildenafil/efectos adversos , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Inhibidores de Fosfodiesterasa 5/administración & dosificación , Estudios Retrospectivos , Citrato de Sildenafil/administración & dosificaciónRESUMEN
BACKGROUND: Human milk fortifier (HMF) is used in neonatal units throughout North America to facilitate growth of preterm infants. Little data is available on the gastrointestinal side effects and potential adverse events. The purpose of this paper was to present a series of infants presenting with bowel obstruction associated with HMF. METHODS: Cases of HMF obstruction were collected between January 2010 and December 2012. Charts were reviewed and relevant data was collected. RESULTS: During the study period, 7 premature infants presented with bowel obstruction secondary to intestinal concretions of HMF. All babies were premature with gestational ages from 25 to 27 weeks. Birth weight was less than 1000 grams in all patients. Patients presented with feeding intolerance, bilious aspirates, abdominal distension, and obstipation. Four of the patients presented with acute deterioration and required urgent surgical intervention. CONCLUSIONS: HMF is an important source of nutritional support in infants, which is felt to be safe. We present a series of infants where its use has resulted in significant complications. HMF should be used with caution in infants, especially those with a history of necrotizing enterocolitis. Further research should examine the calcium, protein, and fatty acid concentration tolerable in the gastrointestinal tract of infants.
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Alimentos Fortificados/efectos adversos , Fórmulas Infantiles , Enfermedades del Prematuro/etiología , Obstrucción Intestinal/etiología , Leche Humana , Enterocolitis Necrotizante/complicaciones , Femenino , Humanos , Recién Nacido , Recien Nacido Prematuro , Enfermedades del Prematuro/cirugía , Recién Nacido de muy Bajo Peso , Obstrucción Intestinal/cirugía , Masculino , Estudios RetrospectivosRESUMEN
Intact tolerogenic mechanisms preclude effective immunity against tumors, as most tumor Ags differ little from normal host Ags. In contrast, when tolerance fails, the immune system becomes inappropriately activated against an autoantigen. We postulated that CD8(+) T cells activated during autoimmunity are capable of protecting against tumors that express the targeted autoantigen. To test this hypothesis, double-transgenic 8.3-NOD-RIPTAg mice were developed (where NOD is nonobese diabetic, RIP is rat insulin promoter, and TAg is large T Ag). In this model, individuals with the RIPTAg transgene develop insulinoma; those expressing a transgenic TCR (8.3-TCR) recognizing the islet-specific glucose 6 phosphatase catalytic subunit-related protein (IGRP) harbor a peripheral immune system dominated by diabetogenic CD8(+) T cells. Although tumor emergence was significantly slower in 8.3-NOD-RIPTAg mice compared with NOD-RIPTAg mice, all 8.3-NOD-RIPTAg mice eventually developed insulinoma. Tumor emergence was not secondary to clonal deletion or anergy. Ag loss and MHC down-regulation were not apparent. Endogenous 8.3-TCR CD8(+) T cells were recruited to the tumor site and proliferated upon arrival to the tumor, although they were notably absent from the central parts of more advanced tumors. These results demonstrate that a breakdown of tolerance capable of causing autoimmune disease is insufficient for effective tumor immunity. Alterations in the tumor microenvironment may inhibit efficient and comprehensive delivery of CD8(+) T cells to all regions of the tumor. These data suggest that any immunotherapeutic strategy for cancer must involve enhancement of a proinflammatory tumor microenvironment in addition to inhibition of tolerogenic mechanisms.