Browsing by Issue Date, starting with "2021-12"
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- Nasolabial cyst in pediatric agePublication . Silva, Marta Ribeiro; Rosa, Ana Patrícia; Miranda, Daniel; Costa Alves, ManuelaHerein is described the case of a 26-month-old male observed in the Emergency Department for edema of the upper lip and left malar region with less than 24 hours of evolution and progressive worsening. No other associated complaints, previous history of trauma, or insect sting were reported. Computed tomography revealed a “left premaxillary abscess associated with ipsilateral nasogenian phlegm”. Intravenous antibiotic therapy with clarithromycin and clindamycin and systemic corticosteroid therapy with dexamethasone were started, and the boy was admitted to the Pediatric Department. He presented favorable clinical evolution, with complete resolution of inflammatory signs. At discharge, the patient remained asymptomatic and was referred to Otorhinolaryngology consultation for follow-up. Although nasolabial cysts are rare in pediatric age, this case intends to raise awareness of the condition, enabling its recognition by clinicians, and increase knowledge about its course and treatment.
- Total Knee Arthroplasty for Osteoarthritis in a Patient with Nail Patella Syndrome – A Case ReportPublication . Serrano, Antonio Filipe; Serrano, Pedro MHereditary osteo-onychodysplasia (or nail patella syndrome) is a rare autosomal dominant disease defined by an association of severe characteristics, with a classic clinical tetrad of dysplasia of the fingernails, patellar hypoplasia or absence, presence of iliac horns, and deformities of the elbow, although renal, ocular and neurological involvement may also be present. The main orthopedic complaint of these patients is patellar instability associated with pain and functional limitation. Most of the literature regarding the treatment of NPS-related patellar problems, concerns pediatric population and there is no treatment algorithm defined for adult patients. NPS has a wide range of presentations in skeletally mature patients, and its severity is also very variable. The general practitioner should be familiar with NPS's clinical presentation spectrum, and the orthopedic surgeon with treatment options, in order to provide the most adequate treatment for each patient. Although there is no cure for NPS, several treatments have been useful in the symptomatic treatment of changes in the knees. We describe a rare clinical case of a 47-year-old female patient with NPS who underwent total knee arthroplasty for knee osteoarthritis.
- Keratoconus and Visual Performance with Different Contact LensesPublication . Marta, Ana; Marques, Joao Heitor; Almeida, Daniel; José, Diana; Barbosa, IrenePurpose: To analyze the visual performance in contact lens wearers with keratoconus. Methods: A retrospective study including contact lens (CL) wearers was performed. The current best-corrected visual acuity with contact lens (BCVA-CL) and with spectacles (BCVA-S) correction, contrast sensitivity (CS) (by Metrovision-MonPack3®), analysis of light scattering in the retina and vision break-up time (HD Analyzer®), and corneal tomography (Oculus Pentacam® HR) were evaluated. Results: This study included 96 eyes of 59 patients with Keratoconus. Rigid gas permeable contact lenses (RGPCL), hybrid contact lenses (HCL), and silicone hydrogel/hydrogel contact lenses (HGCL) were fitted in 67, 17, and 12 eyes, respectively. Dynamic objective scatter index (OSI) (p = 0.024), minimum OSI (p = 0.037) and maximum OSI (p = 0.040) were significantly better with RGPCL and worse with HGCL. Mean CS in photopic conditions was significantly worse with HGCL and better with HCL (p = 0.006), without differences in mesopic conditions (p = 0.121). RGPCL wearers showed a higher mean K (p = 0.020), and a lower corneal thickness at the thinnest point (p=0.011). Conclusion: Visual quality varied significantly with different types of CL. Although RGPCL was fitted in patients with worse Pentacam tomographic parameters, RGPCL was associated with a better dynamic visual quality.
- Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?Publication . Maia, N; Nabais Sá, Maria João; Oliveira, Cláudia; Santos, Flávia; Soares, Celia A; Prior, Catarina; Tkachenko, Nataliya; Santos, Rosário; de Brouwer, Arjan P. M.; Jacome, Ariana; Porto, Beatriz; Jorge, PaulaWe describe an infant female with a syndromic neurodevelopmental clinical phenotype and increased chromosome instability as cellular phenotype. Genotype characterization revealed heterozygous variants in genes directly or indirectly linked to DNA repair: a de novo X-linked HDAC8 pathogenic variant, a paternally inherited FANCG pathogenic variant and a maternally inherited BRCA2 variant of uncertain significance. The full spectrum of the phenotype cannot be explained by any of the heterozygous variants on their own; thus, a synergic contribution is proposed. Complementation studies showed that the FANCG gene from the Fanconi Anaemia/BRCA (FA/BRCA) DNA repair pathway was impaired, indicating that the variant in FANCG contributes to the cellular phenotype. The patient's chromosome instability represents the first report where heterozygous variant(s) in the FA/BRCA pathway are implicated in the cellular phenotype. We propose that a multigenic contribution of heterozygous variants in HDAC8 and the FA/BRCA pathway might have a role in the phenotype of this neurodevelopmental disorder. The importance of these findings may have repercussion in the clinical management of other cases with a similar synergic contribution of heterozygous variants, allowing the establishment of new genotype-phenotype correlations and motivating the biochemical study of the underlying mechanisms.
- Socioeconomic circumstances and lung function growth from early adolescence to early adulthoodPublication . Rocha, Vânia; Severo, Milton; Ramos, Elisabete; Falcão, Helena; Stringhini, Silvia; Fraga, SílviaBackground: A reduced lung function in early adulthood is associated with respiratory and non-respiratory diseases and is a long-term predictor of mortality. This study investigated the association between early socioeconomic circumstances (SEC) and lung function growth trajectories from early adolescence until early adulthood. Methods: We analysed data from the EPITeen population-based study, including adolescents born in 1990. Study waves occurred at 13, 17 and 21 years of age. Information on sociodemographic, behavioural and health factors, anthropometry and spirometry was collected. Early-life SEC were assessed using maternal education and paternal occupational position. The forced expiratory volume in the first second (FEV1) growth trajectories were drawn considering sex-and-height interactions over an 8-year period. Our sample included 2022 participants with complete information for the relevant variables. Results: Participants from most disadvantaged SEC presented lower FEV1 at early adolescence compared to high-SEC counterparts, but differences seem to diminish with height growth. The effect of paternal occupational position in lung function growth trajectories was moderated by height, thus individuals from fathers with less advantaged occupational position had lower FEV1 at early adolescence, but they had a faster FEV1 growth over time. Conclusions: Individuals from most disadvantaged SEC presented lower lung function at early adolescence compared to high-SEC counterparts; nevertheless, a catch-up growth was observed. Impact: Lower socioeconomic circumstances were previously associated with reduced lung function and a higher risk of respiratory diseases in adults. Fewer studies analysed the effects of early-life socioeconomic circumstances in lung function growth during adolescence. Disadvantaged socioeconomic circumstances were associated with lower lung function in early adolescence. However, social differences diminished over adolescence, suggesting a catch-up growth of lung function among those from lower socioeconomic circumstances. An improved understanding of the mechanism underlying lung function catch-up (or the absence of catch-up) might support interventions to narrow social inequalities in respiratory health and should be further investigated.
- Infantile hepatic hemangioendothelioma in a newbornPublication . Silva, Joana Vanessa; Quaresma, Liliana; Ribeiro, Fátima; Ferreira, Inês; Trindade, Eunice; Caldeira, Teresa; Andrade, TeresaInfantile hepatic hemangioendothelioma is the most common benign hepatic vascular tumor in infants younger than six months and may undergo spontaneous regression during the first years of life. Diagnosis of these lesions in preterm newborns can be challenging, with its timing and accuracy relevant to avoid inappropriate therapeutic measures.
- Needs and concerns of siblings in pediatric palliative care: scoping reviewPublication . da Martins Silva, FilipaIntroduction: Understanding the needs of each family member in the setting of Pediatric Palliative Care is crucial. Sibling support is still an emerging area, with recommendations based on clinical experience and adaptation from other contexts. The aim of this study was to assess and describe the needs and concerns of siblings of children in Pediatric Palliative Care. Methods: A literature search was conducted in Medline database. Only research articles with reports of siblings of children in Palliative Care were included. The main characteristics and results of studies included were summarized, and a narrative synthesis was performed. Results: Nine studies were included showing that, although siblings’ needs vary over the course of the disease, these generally include the need for self-support, access to information, and engagement in brother/sister care. Bereaved siblings are usually resilient, but poor-quality support can have a negative psychosocial impact. Discussion and Conclusion: Siblings need informational, instrumental, appraisal, and emotional support. Quantitative prospective studies are needed, as well as accurate clinical practice recommendations taking into account the specificities of each child, family, and sibling.
- Biochemical clinical casePublication . Silva, Joana Vanessa; Ferreira, Joana; Silva, Mariana; Costa, MiguelBisalbuminemia is a qualitative albumin variation defined by coexistence of two types of serum albumin with different electrophoretic mobilities in the same individual. It can be of two different types: hereditary (or permanent) and acquired (or transient). Herein is described a rare case of hereditary bisalbuminemia in a healthy infant, incidentally found during elevated aminotransferase study. Despite not having pathological significance, acknowledgement of this analytical alteration is key for adequate management of these patients.
- Dravet Syndrome − experience of a Neuropediatric UnitPublication . Figueiredo Costa, Marcos; Rocha, Ruben; Baptista, Cristina Freitas; Santos, Manuela; Figueiroa, Sónia; Carrilho, Inês; Temudo, TeresaIntroduction: Dravet syndrome (DS) is a rare and complex genetic epilepsy syndrome. The first seizures are generally induced by fever in the first year of life of a previously healthy child, and the condition is typically associated with impaired psychomotor development. The authors present a clinical review of DS patients followed at a Neuropediatric Unit of a level III Pediatric Hospital. Material and methods: Retrospective study of pediatric patients with DS followed at a Neuropediatric Unit between 2001 and 2019. Results: Twenty-two patients were diagnosed and followed in this institution. The median (interquartile range [IQR]) age at first seizure was 4.5 (4-5.75) months, which was described as generalized tonic-clonic, focal seizure, or focal to bilateral tonic-clonic seizure, and 95% of patients had fever during this first episode. Neuroimaging and first electroencephalogram (EEG) were normal in all patients. SCN1A gene mutations were detected in 21 (95%) patients. All patients underwent multiple antiepileptic drug (AED) regimens. Psychomotor development was delayed in 20 (91%) patients, and 13 (59%) presented ataxia. At the end of follow-up, the median (IQR) age was 19 (8-23) years, with no reported deaths. Discussion: The characteristics of the first DS seizures are crucial for diagnosis, which can be supported by genetic sequencing, with most patients presenting an SCN1A gene mutation. Neuroimaging and EEG are typically normal at disease onset, but most patients present EEG abnormalities over time. Seizure management can be challenging, requiring a combination of multiple AEDs. Conclusion: DS is a progressive disease associated with poor cognitive and motor skill outcomes, resulting in great morbidity. Early diagnosis can help avoid unnecessary studies, optimize the therapeutic strategy, allow genetic counseling, and improve long-term outcomes.
- Recurrent parotitis in children- case series and literature reviewPublication . Mendes, Ana Raquel; Moreira, Liane; Dias, Ângela; Lopes, Andreia; Lobo, Ana Luísa; Simão, Teresa SãoIntroduction: Recurrent parotitis is defined as the occurrence of two or more episodes of the parotid gland. Several etiologies should be addressed in the approach to these patients. The aim of this study was to investigate the clinical, laboratory, and imaging profile of children with recurrent parotitis. Material and Methods: Retrospective review of the medical records of patients referred to a Pediatric Outpatient Clinic between January 2013 and June 2018. Results: The medical records of 24 patients with recurrent parotitis (66.7% male) and a mean age of seven years and five months were reviewed. The median age of onset of episodes was five years and three months. Unilateral and non-febrile episodes prevailed. Non-steroidal anti-inflammatory drugs were universally used to treat symptoms. Non-acute parotid and neck ultrasound predominantly showed the presence of a heterogeneous gland (57.1%). Sialography performed in five patients suggested chronic parotitis in two and Sjögren syndrome/ sarcoidosis in one. No significant immunologic defects were found beside a mild C3 reduction in one patient and C4 reduction in another patient, apparently without clinical relevance. A single patient tested positive for antinuclear antibodies. Immunoglobulin A deficit was found in one case. The most common final diagnosis was juvenile recurrent parotitis (37.5%). Conclusions: Most cases of recurrent parotitis in pediatric age have benign etiology. A more judicious request of complementary exams in the acute and non-acute phases could be time- and cost-effective.