RN&C: Ano de 2018
Permanent URI for this collection
Browse
Browsing RN&C: Ano de 2018 by Title
Now showing 1 - 10 of 17
Results Per Page
Sort Options
- Um achado incomum no exame da fontanela anteriorPublication . Pinho, Catarina Marques; Teixeira, Joana Vidal; Nogueira, Antony; da Silva, Ana Ribeiro; Martins, AlexandraIntrodução: A palpação da fontanela anterior permite avaliar o volume e pressão intracranianos. Uma fontanela tensa numa criança tranquila e observada em posição vertical sugere hipertensão intracraniana, que pode ter várias etiologias, nomeadamente processos neoformativos. Caso clínico: Uma lactente do sexo feminino, de dois meses de idade, recorreu a consulta na sua Unidade de Saúde Familiar por tumefação na fontanela anterior. Objetivou-se a presença de tumefação nodular, de consistência mole, com cerca de 1 cm de maior diâmetro. A ecografia transfontanelar revelou um provável quisto epidermoide. A lactente foi referenciada para Cirurgia Pediátrica, tendo realizado ecografia de controlo após dois meses, que revelou crescimento da lesão, motivo pelo qual foi referenciada para Neurocirurgia. Efetuou ressonância magnética encefálica, que confirmou o diagnóstico ecográfico e excluiu comunicação da lesão com estruturas endocranianas. A lactente manteve seguimento por Neurocirurgia e foi decidido manter vigilância até a fontanela encerrar para realização da cirurgia de exérese. O exame histológico confirmou o diagnóstico de quisto dermoide. Discussão:A vigilância clínica e os achados dos exames imagiológicos demonstraram o carácter benigno da lesão, permitindo adiar a intervenção cirúrgica.
- Acromicric dysplasia and hearing loss: A case reportPublication . Pinto, Ana Nóbrega; Coutinho, Miguel Bebiano; Soares, Teresa; Sousa, Cecília AlmeidaIntroduction: Acromicric dysplasia is an extremely rare autosomal dominant bone dysplasia characterized by progressive growth retardation, short hands and feet, mild facial dysmorphism and generalized joint limitation. Association with ear, nose and pharyngolaryngeal alterations has been previously reported. However, little is known about the otolaryngologic aspects that may accompany this disease. We pretend to raise awareness to the otolaryngologic aspects that may accompany acromicric dysplasia and to the possible interventions that improve these patients quality of life.Clinical Case: We present the case of a ten-year-old girl referred to the otorhinolaryngology consultation with complaints of progressive hearing loss. Hearing evaluation confirmed bilateral severe mixed hearing loss and the patient was successfully rehabilitated with bone-anchored hearing aids.Discussion/Conclusions: Evaluation by an otolaryngologist should be part of the management of children with bone dysplasias, especially if they present with associated symptoms, to allow an early diagnosis and proper intervention
- Arthrogryposis multiplex congenita affecting a monochorionic diamniotic twin pregnancyPublication . Brás, Rafael; Veloso, Helena; Moleiro, Maria; Rodrigues, Sofia; Inocencio, Gonçalo; Mota, Céu; Soares, Gabriela; Rodrigues, Maria Céu; Braga, JorgeArthrogryposis multiplex congenita is a clinically and etiologically heterogeneous group of diseases characterized by presence of contractures involving at least two different body areas. It is observed in one in every 3000−5000 live births. A case of singleton arthrogryposis in a spontaneous monochorionic diamniotic twin pregnancy is reported. Diagnosis was established after morphological ultrasound. There were no further complications during pregnancy. After cesarean delivery, diagnosis of amyoplasia involving the four limbs was confirmed. Newborn is currently undergoing motor rehabilitation. The higher risk of singleton arthrogryposis in monochorionic twin pregnancies is documented and appears to be related with vascular changes early in the course of pregnancy. In amyoplasia, some degree of disability and dependency is expected, even with postnatal rehabilitation.
- Assessment of asthmatic child inhalation device techniquePublication . Pinto, Pedro Tiago; Jeri, Miguel; Barbosa, TelmaIntroduction: In Portugal, asthma is a very common disease, particularly in pediatric age, and many children are treated with medications delivered by inhalation devices. It is known that child inhaler technique is often throughout the world. Aim: The aim of this paper is to describe the performance of asthmatic child device technique in a Portuguese children hospital in the city of Porto, (Centro Materno-Infantil do Norte - CMIN). Methods: The authors assessed inhalation device technique of children aged 6 to 18 years, according to standardized checklists, (similar to those on the Aerosol Drug Management Improvement Team (ADMIT) Website) between September and October 2016, during follow-up of pediatric pneumology consultations in CMIN. Results: Twenty one children met the inclusion criteria and 22 inhalation devices assessments were made. The majority (86%) used dry-powder inhalers; the most common error was failure to exhale before actuation (in 61%). Discussion/Conclusion: Our results confirm a relatively high percentage of children failing in their performance in the use of the inhalation devices. Pediatricians and primary care physicians should assess the inhalation technique of asthmatic children regularly, in order to ensure a good asthma control in the pediatric age.
- Child maltreatment and mental disorders – the role of epigeneticsPublication . Queirós, Marta; Caseiro, JoãoIntroduction: Child maltreatment is associated with high risk for various physical and mental disorders and is associated with over 30% of adult psychopathology. Child maltreatment also relates with poor clinical outcomes, such as chronic disease, increased hospitalization, comorbidity and reduced response to treatment. Early adverse experiences can cause epigenetic changes, altering gene expression without changing DNA sequence. Epigenetic alterations in genes implicated in stress response and neurodevelopment might explain to some extent the impact of child maltreatment in mental health. Objectives: Review available literature concerning the impact of child maltreatment in human epigenome, focusing on mental health related outcomes. Development: DNA methylation induced by child maltreatment changes specific genes, in peripheral and brain tissues, producing major consequences in stress regulation, neural plasticity, and neurodevelopment. Methylation of the glucocorticoid receptor gene is one of the most studied epigenetic alterations that have been related to childhood maltreatment and seems to be responsible for an increased vulnerability to develop psychopathology. Epigenetic changes may not be permanent, and there are some interventions that seem to reduce DNA methylation. Therefore, in the future, DNA methylation may be used, not only in the diagnosis and prediction of treatment response, but also for therapeutic innovation. Conclusions: Epigenetic changes can potentially explain pathophysiological changes related to child maltreatment exposure, may serve as biomarkers in stress-related disorders and provide targets for the development of new therapeutic and preventive interventions for individuals that were exposed to child abuse.
- Continuous Subcutaneous Insulin Infusion (CSII) – Impact on Metabolic Control and Quality of Life of the Informal CaregiverPublication . Rangel, Maria Adriana; Baptista, Carolina; Lima, Conceição; Leite, Ana Luísa; Campos, Rosa ArméniaAim: To describe the population of children treated with Continuous Insulin Subcutaneous Infusion (CSII) in a singlecenter unit and assess the impact on metabolic control. As an additional purpose, we also assessed the perceived burden of the caregivers of children with type 1 diabetes (T1DM) and correlated with the insulin delivery method (CSII vs. multiple daily injections - MDIs). Methods: Descriptive, cross-sectional, observational study, of all patients with T1DM under CSII treatment, followed in a Pediatric Endocrinology Clinic between January 2011 and September 2016. Outcomes regarding metabolic control were assessed at three points: on initiation of CSII, after three to six months’ period and at the last appointment. On a second phase of our study, we applied the Informal Caregiver Burden Assessment Questionnaire, drawn and validated for the Portuguese population, to parents of children under CSII and compared them with a sample of parents of children under MDIs. Results: Of a total of 112 T1DM patients followed, 22 patients under CSII treatment were included, with a mean HbA1c of 7.6 ± 0.9%. CSII use was associated with a reduction on body mass index (BMI) z-score over time, and no differences on HbA1C, blood pressure (BP) and lipid profile. Frequency of severe hypoglycaemia and number of hospitalization for metabolic decompensation were significantly reduced. A total of 44 caregivers answered the questionnaire, aged between 27-52 years, the majority of the female gender (77.3%). The overall overload perceived was not high (Median [Md]=23.0%; Interquartil range [IQR]: 9.8-35.7). Emotional overload (Md=34.4%), family support (Md=25.0%) and personal life implications (Md=23.9%) were the dimensions that contributed the most to the negative overload felted. When compared between groups (n=20 CSII; n=24 MDIs), there were no differences in total or partial quotation. Conclusion: CSII was associated with a reduction in BMI z-score, number of severe hypoglycaemia and hospitalization, with no differences in HbA1C, BP or lipid profile. Although many studies indicate an improvement in the quality of life of children with CSII and their caregivers, our study does not point to a reduction in the overload experienced. Addressing caregiver psychological distress and burden, ideally through specific and validated diabetes questionnaires, in family-based treatments such as T1DM are of valuable interest and may improve, overtime, health outcomes.
- Dermatology clinical casePublication . Brandão, Pedro; Falcão-Reis, Inês; Rodrigues, Cátia; Ferreira, Vânia; Sá, IsabelUlcus Vulvae Acutum or Lipschütz ulcer is a rare cause of acute vulvar ulcer that usually affects young, non-sexually active women and consists on the sudden emergence of vulvar ulcers some days after an influenza-like syndrome, usually caused by Epstein-Barr virus. Despite its exuberant presentation, such ulcers are benign and self-limited. Diagnosis is clinical and treatment, symptomatic. Lesions typical resolve within a few weeks, leaving no scars. The authors describe the case of a 17-year-old, sexually active female adolescent with Lipschütz ulcers.
- Etiological Investigation of Autism Spectrum Disorders – State of The ArtPublication . Gonçalves, Daniel; Guardiano, Micaela; Leão, MiguelAutism Spectrum Disorder is a Neurodevelopmental Disorder characterized by deficits in social interaction and by the presence of restricted, repetitive and stereotyped patterns of behaviours, interests, and activities. The aetiology of Autism Spectrum Disorder is often genetic, with several monogenic diseases clearly associated with this disorder. Significant advances in molecular genetics have increased the rate of etiological diagnosis of Autism Spectrum Disorder to about 30-40% in the last decade. The establishment of a definitive etiological diagnosis facilitates referral to community support services, contributes to knowledge of possible associated medical conditions and prevention of morbidity and mortality, while also eliminating inadequate diagnostic tests and allowing individualized genetic counselling. The authors present a proposal for an etiological investigation of this pathology, including criteria for performing complementary metabolic evaluation, neuroimaging and electroencephalography, and various genetic studies (conventional cytogenetics, Array-Comparative Genomic Hybridization, targeted molecular studies, multi-gene panels and Whole Exome Sequencing).
- Fever from Primary Tooth Eruption – What is the evidence?Publication . Matos, Sara; Silva, PatríciaIntroduction: There is no consensus on the causal relationship between primary dental eruption and both systemic and local signs and symptoms. Fever, an important sign, is often reported. Such lack of evidence hampers clinical reasoning and may contribute to delayed diagnosis of important conditions. Objective: To review existing evidence underlying the association between primary tooth eruption and fever. Methods: A review of the evidence on English, Portuguese and Spanish scientific publications over the last ten years was performed in the main international databases using the query “tooth eruption” and “fever” [MeSH], and in the index of Portuguese medical journals using the query “erupção dentária” and “febre” [DeCS]. SORT system of the American Family Physician was used for rating the strength of evidence. Results: A total of 53 articles were retrieved, from which two meta-analyses and two original studies were selected, comprising a total of 5317 children. Massignan et al. (2016) meta-analysis and Memarpour et al. (2015) clinical trial found a slight temperature increase on the day of primary tooth eruption, but no fever. In Nemezio et al. (2017) meta-analysis, this association was observed in the subgroup that used the rectal method for temperature assessment. Un Lam et al. (2016) observational study reported a fever prevalence of 49.9%. Discussion and conclusions: The present analysis had several limitations, including a significant heterogeneity amongst studies in the definition of fever, interpersonal variability during fever measurements, different fever assessment methods or absence of that information, and no exclusion of confounding factors. Given available evidence, it is not possible to establish a clear association between primary dental eruption and the occurrence of fever. A higher number of robust studies is required to confirm this hypothesis (SORT B).
- Fluid administration − Which direction?Publication . Vaz, Sara; Sousa, Sofia Cochito; Abecasis, Francisco; Boto, Leonor; Rios, Leonor; Camilo, Cristina; Vieira, MarisaIntroduction: Although fluid administration for intravenous hydration is a common practice in pediatric age, it is not devoid of risks. Methods: This was a retrospective cohort study including all children admitted to surgical recovery and receiving intravenous hydration at a Pediatric Intensive Care Unit between January and December 2015. Sodium, chloride, and base excess values were registered on two occasions: after surgery and during Unit’s hospitalization. Results: Two hundred and seven children were included in the study, 66% of which, male, with a median age of 6.7 years. Fluids used consisted of 0.9% saline solution, 0.45% saline solution, and polyelectrolyte solution. The most frequently used fluids were polyelectrolyte (62%) and 0.9% saline solution (48%) at the operating room, and 0.9% saline (63%) and 0.45% saline (44%) solutions at the Pediatric Intensive Care Unit. At the operating room, 0.9% saline solution led to higher chloride median values and more negative base excess (metabolic acidosis) values compared with polyelectrolyte solution. At the Pediatric Intensive Care Unit, 0.9% saline solution administration resulted in hyperchloremia (p=0.002) and more metabolic acidosis (p=0.019) compared with 0.45% saline solution. There was no statistically significant association between type of solution used and sodium values. Discussion: This study shows that the use of 0.9% saline solution is associated with development of hyperchloremic acidosis. This suggests that replacement of 0.9% saline solution with a plasma-like electrolyte solution may improve patient outcomes.