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- Design and Implementation of a Collaborative Clinical Practice and Research Documentation System Using SNOMED-CT and HL7-CDA in the Context of a Pediatric Neurodevelopmental UnitPublication . Direito, B; Santos, A; Mouga, S; Lima, J; Brás, P; Oliveira, G; Castelo-Branco, MThis paper introduces a prototype for clinical research documentation using the structured information model HL7 CDA and clinical terminology (SNOMED CT). The proposed solution was integrated with the current electronic health record system (EHR-S) and aimed to implement interoperability and structure information, and to create a collaborative platform between clinical and research teams. The framework also aims to overcome the limitations imposed by classical documentation strategies in real-time healthcare encounters that may require fast access to complex information. The solution was developed in the pediatric hospital (HP) of the University Hospital Center of Coimbra (CHUC), a national reference for neurodevelopmental disorders, particularly for autism spectrum disorder (ASD), which is very demanding in terms of longitudinal and cross-sectional data throughput. The platform uses a three-layer approach to reduce components’ dependencies and facilitate maintenance, scalability, and security. The system was validated in a real-life context of the neurodevelopmental and autism unit (UNDA) in the HP and assessed based on the functionalities model of EHR-S (EHR-S FM) regarding their successful implementation and comparison with state-of-the-art alternative platforms. A global approach to the clinical history of neurodevelopmental disorders was worked out, providing transparent healthcare data coding and structuring while preserving information quality. Thus, the platform enabled the development of user-defined structured templates and the creation of structured documents with standardized clinical terminology that can be used in many healthcare contexts. Moreover, storing structured data associated with healthcare encounters supports a longitudinal view of the patient’s healthcare data and health status over time, which is critical in routine and pediatric research contexts. Additionally, it enables queries on population statistics that are key to supporting the definition of local and global policies, whose importance was recently emphasized by the COVID pandemic.
- Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literaturePublication . Sentchordi-Montané, L; Aza-Carmona, M; Benito-Sanz, S; Barreda-Bonis, AC; Sánchez-Garre, C; Prieto-Matos, P; Ruiz-Ocaña, P; Lechuga-Sancho, A; Carcavilla-Urquí, A; Mulero-Collantes, I; Martos-Moreno, GA; Del Pozo, A; Vallespín, E; Offiah, A; Parrón-Pajares, M; Dinis, I; Sousa, SB; Ros-Pérez, P; González-Casado, I; Heath, KEOBJECTIVE: Mutations in the aggrecan gene (ACAN) have been identified in two autosomal dominant skeletal dysplasias, spondyloepiphyseal dysplasia, Kimberley type (SEDK), and osteochondritis dissecans, as well as in a severe recessive dysplasia, spondyloepimetaphyseal dysplasia, aggrecan type. Next-generation sequencing (NGS) has aided the identification of heterozygous ACAN mutations in individuals with short stature, minor skeletal defects and mild facial dysmorphisms, some of whom have advanced bone age (BA), poor pubertal spurt and early growth cessation as well as precocious osteoarthritis. DESIGN AND METHODS: This study involves clinical and genetic characterization of 16 probands with heterozygous ACAN variants, 14 with short stature and mild skeletal defects (group 1) and two with SEDK (group 2). Subsequently, we reviewed the literature to determine the frequency of the different clinical characteristics in ACAN-positive individuals. RESULTS: A total of 16 ACAN variants were located throughout the gene, six pathogenic mutations and 10 variants of unknown significance (VUS). Interestingly, brachydactyly was observed in all probands. Probands from group 1 with a pathogenic mutation tended to be shorter, and 60% had an advanced BA compared to 0% in those with a VUS. A higher incidence of coxa valga was observed in individuals with a VUS (37% vs 0%). Nevertheless, other features were present at similar frequencies. CONCLUSIONS: ACAN should be considered as a candidate gene in patients with short stature and minor skeletal defects, particularly those with brachydactyly, and in patients with spondyloepiphyseal dysplasia. It is also important to note that advanced BA and osteoarticular complications are not obligatory conditions for aggrecanopathies/aggrecan-associated dysplasias.
- A rare cause of neonatal persistent jaundicePublication . Oliveira, GN; Dinis, I; Noruegas, MJ; Mirante, A
- Autoimmune alternating hyper- and hypo-thyroidism: a rare condition in pediatricsPublication . Martins, LC; Coutinho, AR; Jerónimo, M; Caetano, JS; Cardoso, R; Dinis, I; Mirante, AAlternating between hyper- and hypo-thyroidism may be explained by the simultaneous presence of both types of TSH receptor autoantibodies (TRAbs) - thyroid stimulating autoantibodies (TSAbs) and TSH blocking autoantibodies (TBAbs). It is a very rare condition, particulary in the pediatric age. The clinical state of these patients is determined by the balance between TSAbs and TBAbs and can change over time. Many mechanisms may be involved in fluctuating thyroid function: hormonal supplementation, antithyroid drugs and levels of TSAbs and TBAbs. Frequent dose adjustments are needed in order to achieve euthyroidism. A definitive therapy may be necessary to avoid switches in thyroid function and frequent need of therapeutic changes. We describe an immune-mediated case of oscillating thyroid function in a 13-year-old adolescent. After a short period of levothyroxine treatment, the patient switched to a hyperthyroid state that was only controlled by adding an antithyroid drug. LEARNING POINTS: Autoimmune alternating hypo- and hyper-thyroidism is a highly uncommon condition in the pediatric age.It may be due to the simultaneous presence of both TSAbs and TBAbs, whose activity may be estimated in vitro through bioassays.The clinical state of these patients is determined by the balance between TSAbs and TBAbs and can change over time.The management of this condition is challenging, and three therapeutic options could be considered: I-131 ablation, thyroidectomy or pharmacological treatment (single or double therapy).Therapeutic decisions should be taken according to clinical manifestations and thyroid function tests, independent of the bioassays results.A definitive treatment might be considered due to the frequent switches in thyroid function and the need for close monitoring of pharmacological treatment. A definitive treatment might be considered due to the frequent switches in thyroid function and the need for close monitoring of pharmacological treatment.
- Metabolic factors in obesityPublication . Brito, N; Fonseca, M; Dinis, I; Mirante, AObesity has a rising prevalence in children and adolescents, affecting 30% of the paediatric population in Portugal. Leptin is an important hormone involved in the pathogenesis of obesity and has been under investigation as a risk marker for future complications. AIMS: 1. To evaluate the relation between serum leptin levels and body mass index (BMI) and height. 2. To compare leptin levels in obese and non-obese children. 3. To evaluate the relation between leptin levels and insulin resistance index. METHODS: Cross-sectional study, using a sample of 70 obese children and a control group of 53 non-obese children. Obesity was defined as BMI standard deviation > 2 for age and sex. In the obese group we assessed sex, age, BMI SDS and height SDS for age and sex, and serum levels of glucose, insulin and leptin. In the control group were obtained BMI SDS and height SDS for age and sex and leptin levels. Data were analysed using SPSS 12. RESULTS: The mean age of obese and non-obese children was 10.3 +/- 2.9 versus 10.9 +/- 3.5 years. In the obese group, 32 (45.7%) were boys versus 18 (31.0%) in the non-obese group. BMI SDS in the obese group was 3.12 +/- 0.60 versus 0.20 +/- 0.99 in the non-obese group (p < 0.001). Leptin levels showed a positive correlation with BMI SDS (r = 0.69; p < 0.001) and height SDS (r = 0.31; p < 0.001). When comparing leptin levels between obese and non-obese groups, we found a significant difference in boys (50.7 +/- 27.3 versus 7.0 +/- 6.8 ng/ml; p < 0.001) and in girls (57.6 +/- 25.5 versus 16.5 +/- 10.3 ng/ml; p < 0.001). In the nonobese group, leptin levels were lower in boys. This difference was not seen in the obese group. Leptin showed a positive correlation with insulin resistance index in boys (r = 0.45, p = 0.05), but not in girls. CONCLUSIONS: This study has confirmed a positive correlation between leptin levels and BMI SDS. In obese children elevated leptin is associated with central resistance to its action. The positive correlation of leptin with insulin resistance index may suggest a major role of leptin in insulin resistance.
- Congenital Milium of the NipplePublication . Ferreira, MG; Salgado, MA 12-month-old girl presented with an asymptomatic, pearly nodule on the left nipple that had been present from birth and was currently 3 mm in diameter and growing. Assuming the diagnosis of congenital primary milium of the nipple, we took a "wait and see" approach. After 3 months, the pearl disappeared without any scarring.
- Köhler disease: an infrequent or underdiagnosed cause of child's limping?Publication . Santos, L; Estanqueiro, P; Matos, G; Salgado, MKöhler disease (KD) is the osteochondrosis of the tarsal navicular bone of the young children, which is a self-limited condition. Typically the child reports pain with mechanical characteristics in the medial region of the foot, however, intermittent or continuous limping may be the only clinical manifestation, which delays the diagnosis and consequently exposes to unnecessary tests and treatments. We describe a bilateral KD whose clinical manifestation was unilateral limping with 4 months evolution. The radiologic evaluation showed flattening, sclerosis and irregular rarefaction of both navicular bones. Claudication persisted for four weeks, after which, the child remains asymptomatic.
- [The Importance of Early Referral in Pediatric Acute Liver Failure]Publication . Jerónimo, M; Moinho, R; Pinto, C; Carvalho, L; Gonçalves, I; Furtado, E; Farela Neves, JINTRODUCTION: Acute liver failure is a rare disorder associated to high morbidity and mortality despite survival improvement through liver transplantation. The importance of a multidisciplinary approach and early referral to a pediatric liver transplantation center were important conclusions of a national meeting in 2008, from which resulted an actuation consensus. OBJECTIVES: To characterize acute liver failure admissions in a Pediatric Intensive Care Unit of the portuguese pediatric livertransplantation center. To compare results before (A) and after (B) 2008. MATERIAL AND METHODS: Observational, retrospective study during a 20 year period (1994-2014). INCLUSION CRITERIA: age < 18 years old and acute liver failure (INR ≥ 2 without vitamin K response and hepatocellular necrosis). Children with previous liver disease were excluded. RESULTS: Fifty children were included, with median age of 24.5 months. The most common etiology under 2 years old was metabolic (34.6%) and above that age was infectious (29.2%). Forty six percent were submitted to liver transplantation and 78% of them survived. Overall mortality was 34%. Median referral time was 7 days in period A (n = 35) and 2 days in period B (n = 15; p = 0.006). Pediatric risk of mortality's median was 14.7 in period A and 6.5 in B (p = 0.019). Mortality was 37% vs 26% in periods A and B, respectively (p = 0.474). DISCUSSION AND CONCLUSIONS: Overall mortality was similar to the observed in other European centers. Liver transplantation is in fact the most effective therapeutic option. After 2008, there was a reduction in referral time and cases severity on admission; however, mortality has not reduced so far.
- Neonatal Morbidity in Term Newborns Born by Elective Cesarean SectionPublication . Resende, C; Santos, L; Santos-Silva, IINTRODUCTION: International guidelines suggest that non-urgent planned deliveries be scheduled at or after 39 weeks. Despite this recommendation elective cesarean often occurs before 39 weeks. Some research has demonstrated that elective cesarean before 39 weeks poses a greater risk to the infants than at or after 39 weeks. OBJECTIVE: To evaluate neonatal morbidity in term newborns born by elective cesarean section. MATERIAL AND METHODS: Retrospective study of all term elective cesarean sections (scheduled and without labor) performed in level III maternity, in the last 11 years (2003 - 2013). High risk pregnancies were excluded: twins, premature rupture of membranes, preeclampsia, poorly controlled diabetes mellitus, Rh isoimmunization and congenital malformations. Two groups of newborns with gestational age less than 39 weeks and equal or greater than 39 weeks gestational age were compared. RESULTS: In our sample, 45% of elective caesarean sections were performed before 39 weeks. Infants born before 39 weeks were more frequently admitted in neonatal intensive care, odds ratio 2.4 [1.4 - 4.1] p = 0.001, had more respiratory morbidity, odds ratio 2.4 [1.6 - 3.8] p < 0.001, more hyperbilirubinaemia odds ratio 2.3 [1.5 - 3.7] p < 0.001, more hypoglycaemia and/or feeding difficulties odds ratio 1.6 [1.2 - 2.4] p = 0.006, and longer admissions (more than five days), odds ratio 2.0 [1.4 - 3] p < 0.001. DISCUSSION: As in other studies 'early term' had higher respiratory and metabolic morbidity and consequently had a longer hospital stay. CONCLUSION: These findings support recommendations to delay elective cesarean delay until 39 weeks of gestation.