Browsing by Issue Date, starting with "2018-09-30"
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- 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.
- Trisomy 20 mosaicism – a subtle phenotypePublication . Medeiros, Inês; Faria, Catarina; Carvalho, Fábia; Rocha, Miguel Gonçalves; Silva, HelenaIntroduction: Trisomy 20 mosaicism is one of the most common cytogenetic abnormalities found in prenatal diagnosis. The outcome of these pregnancies is normal in most of the reported cases, but clinical implications of diagnosis and prognosis in a long term basis are not clear. Case report: The authors present a case of trisomy 20 mosaicism, with no prenatal diagnosis, followed-up for a period of 13 years, aiming to demonstrate the existence of a subtle phenotype, which represents a challenge in diagnosis. Discussion/Conclusion: No specific phenotype has been associated with the cytogenetic findings but certain features, although subtle, appear to be consistent.
- 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).
- 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.
- The influence of socio-cultural features in the contents of delusions, football delusion – Two Clinical casesPublication . Caseiro, João; Queirós, OtíliaWe describe the clinical cases of two 17 year-old patients presenting a first psychotic episode in which football was central to their delusional beliefs. These two patients were admitted with a five-month’s gap in an inpatient clinic after the intervention of the authorities who conducted them to the emergency room.Football has become the main global mass entertainment phenomenon of the contemporary European society. Therefore, it’s not surprising that in the year that Portuguese football had its most glorious moment with the Euro Cup victory, the game took part in the delusional beliefs of two young people presenting their first psychotic episode.With the description of these two clinical cases we intend to emphasise on the relation between socio-cultural features and the content of the delusional beliefs.
- 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