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Pediatric transplantation in Europe during the COVID‐19 pandemic: Early impact on activity and healthcare
Get PDFThe current pandemic SARS-CoV-2 has required an unusual allocation of resources that can negatively impact chronically ill patients and high-complexity procedures. Across the European Reference Network on Pediatric Transplantation (ERN TransplantChild), we conducted a survey to investigate the impact of the COVID-19 outbreak on pediatric transplant activity and healthcare practices in both solid organ transplantation (SOT) and hematopoietic stem cell transplantation (HSCT). The replies of 30 professionals from 18 centers in Europe were collected. Twelve of 18 centers (67%) showed a reduction in their usual transplant activity. Additionally, outpatient visits have been modified and restricted to selected ones, and the use of telemedicine tools has increased. Additionally, a total of 14 COVID-19 pediatric transplanted patients were identified at the time of the survey, including eight transplant recipients and six candidates for transplantation. Only two moderate-severe cases were reported, both in HSCT setting. These survey results demonstrate the limitations in healthcare resources for pediatric transplantation patients during early stages of this pandemic. COVID-19 disease is a major worldwide challenge for the field of pediatric transplantation, where there will be a need for systematic data collection, encouraging regular discussions to address the long-term consequences for pediatric transplantation candidates, recipients, and their families.info:eu-repo/semantics/publishedVersio
Prevenção de abusos sexuais em idade pré-escolar – Conhecimentos e atitudes dos educadores
Get PDFIntroduction: Child sexual abuse (CSA) is a global public health problem across different culture and socioeconomic strata. Teachers have a privileged role in prevention programs and the approach is feasible and effective in preschoolers. The aim of this study was to characterize preschool teachers’ knowledge, attitudes, and training about CSA prevention.
Methods: A non-experimental, exploratory, cross-sectional study was conducted in Leiria, Portugal, comprising 47 preschool teachers. Data was retrieved through a questionnaire developed by study authors.
Results: Most preschool teachers had no CSA prevention training. About half of inquired teachers considered their knowledge about CSA prevention as reasonable. However, 12.8% classified it as poor, mainly teachers with less practice years (50% vs 69.6% of teachers with ≥30 practice years who classified their knowledge as reasonable, p=0.03). Most participants agreed that CSA prevention should be part of preschool curriculum, particularly older teachers (92% vs 77%, p=0.03). Most respondents considered adjusting these concepts to preschoolers challenging for implementation of prevention programs, 72.4% considered that some topics were not suitable for discussion with preschool children, and 82.9% considered that their approach was not well accepted by parents or caregivers.
Discussion: Study results evidenced several difficulties and limited training of preschool teachers in CSA prevention. Encouragingly, most teachers showed a positive attitude towards participating in CSA training education and including this topic in preschool curriculum. This study emphasizes the importance of teachers’ education in this subject through implementation of training programs.info:eu-repo/semantics/publishedVersio
Sarcoma mielóide da tibia
Get PDFMyeloid sarcoma is a rare tumor of immature myeloid cells in an extramedullary site which can be found in any part of the body. It may precede or concurrently occur with acute myeloid leukemia, chronic myeloid leukemia, or myeloproliferative disorders/myelodysplastic syndrome.
Herein is reported the rare case of a child with myeloid sarcoma in the right tibia, without leukemic involvement at diagnosis. Diagnosis was challenging and several imaging modalities (radiography, computed tomography, magnetic resonance, bone scintigraphy, positron emitted tomography–computed tomography) were required. Additionally, three biopsies were necessary to make a definitive and conclusive diagnosis.
With this case report, the authors intend to emphasize the need of considering myeloid sarcoma in the differential diagnosis of lytic bone lesions in children and highlight the high degree of clinical suspicion required when there is no leukemia evidence.info:eu-repo/semantics/publishedVersio
Conjunctivitis in patients with atopic dermatitis treated with dupilumab
Get PDFAtopic dermatitis (AD) is a common, chronic, inflammatory skin disorder with high physical and emotional burden. Robust evidence suggests that interleukin (IL)-4 and IL-13 are key cytokines in the immunopathogenesis of AD. New emerging agents include dupilumab, a fully human monoclonal antibody directed against the IL-4 receptor a subunit that blocks both IL-4 and IL-13 signaling and has shown significant efficacy in patients with moderate-to-severe AD. Dupilumab is approved for the treatment of moderate-to-severe AD, moderate-to-severe eosinophilic or oral corticosteroid-dependent asthma, and chronic rhinosinusitis with nasal polyps. Data from phase phase 2 and 3 studies have revealed that dupilumab generally has a low rate of adverse events, although an increased incidence of mild-to-moderate conjunctivitis has been reported for dupilumab compared with placebo. The present paper reviews the data of dupilumab-associated conjunctivitis and risk factors in adults with moderate-to-severe AD and other atopic diseases in dupilumab clinical trials and addresses the characteristics and treatment options available for this clinically highly relevant condition. Additionally, it presents data from ten studies in the real-life setting with dupilumab. Dupilumab-associated conjunctivitis incidence is higher in AD, although most cases are mild-to-moderate and have good response to topical treatment, with no need to suspend dupilumab therapyinfo:eu-repo/semantics/publishedVersio
Peripheral neuropathy in systemic vasculitis and other autoimmune diseases – a report of five cases emphasizing the importance of etiologic characterization
Get PDFIntroduction: Peripheral neuropathies may present in the context of systemic vasculitis and other autoimmune diseases. The etiologic characterization is crucial to define the treatment and prognosis in secondary vasculitis. The purpose of this study is to describe the pathway of etiologic investigation including the role of nerve biopsy.
Methods: Retrospective analysis of patients seen in the neuromuscular outpatient clinic during the last four years with peripheral neuropathy in the context of systemic vasculitis or other autoimmune diseases.
Results: We present five patients with stepwise progressive sensorimotor deficits of upper and lower limbs. All patients presented with systemic features and one of them had an established diagnosis of systemic vasculitis. They underwent an extended blood panel, including autoimmune and serologic tests. Electromyography and nerve conduction studies revealed asymmetric axonal sensorimotor polyneuropathies in four patients, and an axonal sensorimotor multiple mononeuropathy in one. Four patients underwent nerve biopsy and the other performed a skin biopsy, with findings suggestive of possible vasculitic processes. The etiologies identified included microscopic polyangiitis, HBV-related polyarteritis nodosa and two eosinophilic granulomatosis with polyangiitis. In the last patient a specific etiology could not be established.
Conclusion: This series reveals the etiologic and phenotypic diversity of peripheral neuropathies related with systemic vasculitis. The therapeutic approach and prognosis were distinct in each patient, emphasizing the importance of a prompt diagnosis and appropriate treatment.info:eu-repo/semantics/publishedVersio
Severe Acute Liver Injury Related to Heat Stroke
Get PDFHeat stroke (HS) is a life-threatening condition characterized by hyperthermia and multiple organ failure. Mild to moderate hepatocellular injury is a well-documented complication but severe liver injury and acute liver failure are rare. There are neither established criteria nor optimal timing for liver transplantation and conservative management seems to be the cornerstone treatment. The authors report a case of a patient with severe liver injury related to HS who recovered completely under conservative treatment.
Learning points: Hyperthermia, neurologic dysfunction and recent exposure to hot weather or physical exertion should raise the suspicion of heat stroke (HS).Fast and effective cooling is the cornerstone of treatment, along with support of organ dysfunction. Antipyretics have no role in HS management.Conservative treatment has been described as being successful in the management of patients with HS that manifest severe acute liver injury (ALI) and acute liver failure (ALF). However, early referral to a liver transplantation centre is essential to guide treatment.info:eu-repo/semantics/publishedVersio
Acidentes na adolescência e fatores associados
Get PDFIntroduction: Unintentional injuries are an important cause of death in adolescents, as well as a major cause of ill health. This age group is prone to unintentional injuries due to their specific biological, psychological, and social characteristics. To prevent these injuries, it is crucial to understand their prevalence and associated factors. The aim of this study was to identify and characterize unintentional injuries in adolescents and their potential impact on health and life.
Material and Methods: Prospective, observational, two-center study over one year based on a survey of adolescents admitted to the Emergency Department due to unintentional injuries.
Results: The study included 1054 adolescents (840 from Center A and 214 from Center B), mostly male (58.2%), 51.6% of which in early adolescence (10 to 13 years old) and only 11.2% in late adolescence (17 to 18 years old). Alchool or drug use were reported by 2.3% of participants. Main reported injuries included traumatic injuries (mainly during sports), accidental falls (mainly at school), and road traffic accidents (being run over by a car as the most frequent). Acidental falls and traumatic injuries were more common in early adolescence, whereas burns, road traffic accidents, and intoxications were more frequent in middle adolescence. Low frequency of personal protection equipment use (31.3%) was reported by bycicle riders. School absence was reported in 31% of cases, mainly associated with traumatic injuries (49.8%) and falls (40.1%).
Conclusion: Most reported unintentional injuries had preventable causes and their prevalence was developmental stage-dependent. These results provide additional data for implementation of preventive measures according to developmental adolescence stages.info:eu-repo/semantics/publishedVersio
Malformação congénita das vias aéreas pulmonares e sequestro pulmonar no lactente – um diagnóstico raro
Get PDFHerein is described the case of a two-month-old female infant with recurrent respiratory infections, admitted to the Pediatric Emergency Department with productive cough, respiratory distress, and fever. Chest radiography showed an heterogenous hypotransparent image in the left pulmonary field and contralateral deviation of the mediastinum.
Angiotomography revealed bilateral bronchopulmonary sequestration and a systemic vessel contributing to area irrigation. The patient was submitted to vessel occlusion and lacquering, left inferior lobectomy, and resection of a right lower lobe segment. Histological examination confirmed intralobar bronchopulmonary sequestration and type 2 congenital pulmonary airway malformation in the left lung, and extralobar bronchopulmonary sequestration in the right lung.
With this report, the authors intend to emphasize the importance of clinical suspicion of congenital anomalies in infants with recurrent respiratory infections.info:eu-repo/semantics/publishedVersio
Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20
Get PDFAutosomal Recessive Spinocerebellar Ataxia 20, SCAR20, is a rare condition characterized by intellectual disability, lack of speech, ataxia, coarse facies and macrocephaly, caused by SNX14 variants. While all cases described are due to homozygous variants that generally result in loss of protein, so far there are no other cases of reported compound heterozygous variants. Here we describe the first non-consanguineous SCAR20 family, the second Portuguese, with two siblings presenting similar clinical features caused by compound heterozygous SNX14 variants: NM_001350532.1:c.1195C>T, p.(Arg399*) combined with a novel complex genomic rearrangement. Quantitative PCR (Q-PCR), long-range PCR and sequencing was used to elucidate the region and mechanisms involved in the latter: two deletions, an inversion and an AG insertion: NM_001350532.1:c.[612+3028_698-2759del;698-2758_698-516inv;698-515_1171+1366delinsAG]. In silico analyses of these variants are in agreement with causality, enabling a genotype-phenotype correlation in both patients. Clinical phenotype includes dystonia and stereotypies never associated with SCAR20. Overall, this study allowed to extend the knowledge of the phenotypic and mutational spectrum of SCAR20, and to validate the role of Sorting nexin-14 in a well-defined neurodevelopmental syndrome, which can lead to cognitive impairment. We also highlight the value of an accurate clinical evaluation and deep phenotyping to disclose the molecular defect underlying highly heterogeneous condition such as intellectual disability.UMIB was supported by National Funds through the FCT – Fundação para a Ciência e a Tecnologia (Portuguese national funding agency for science, research and technology) in the frameworks of the UID/Multi/00215/2019 project – Unit for Multidisciplinary Research in Biomedicine - UMIB/ICBAS/UP. NM and PJ were awarded with CHP grants 2017 DEFI-CHUP, E.P.E. and 2015 (145/12), respectivelyinfo:eu-repo/semantics/publishedVersio