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- COARSE FACE, HYPOTONIA, AND NEURODEVELOPMENTAL REGRESSIONPublication . Miranda, A; Ezequiel, M; Luis, C; DupontI, J; GasparII, P; Vilarinho, L, et al.Inborn errors of metabolism are a heterogeneous class of multisystemic diseases which, although individually rare, are collectively quite common. Central nervous system is usually affected. The authors report the case of a five-month-old girl, daughter of non-consanguineous parents, born after an unremarkable full-term pregnancy and delivery. Hypotonia and neurodevelopmental regression were noted from the age of five months, along with progressive onset of facial dysmorphism, hepatomegaly, seizures, and dilated cardiomyopathy. Gangliosidosis type 1 diagnosis was confirmed by biochemical, enzymatic, and genetic findings. This report enhances the relevance of multidisciplinary approach and follow-up.
- Hemophagocytic lymphohistiocytosis, Leishmania and Epstein-Barr infection: an uncommon associationPublication . Costa, F; Miranda, A; Figueiredo, A; Correia, PIntroduction: Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of abnormal excessive immune activation, with signs and symptoms of excessive inflammation. Case report: 18-months-old girl admitted for persistent fever for the past two months. No other symptoms associated. History of a trip to the north of Portugal with contact with dogs. On examination: ill-appearance, pale and hepatosplenomegaly. Laboratory findings revealed pancytopenia progressively worst, associated with elevated ferritin (828ng/mL), hypertriglyceridemia (490 mg/dL), elevated soluble interleukin-2-receptor (11045 U/mL), which lead to the diagnosis of HLH. Etiologic investigation: IgM VCA-EBV positive (99U/mL), IgG VCA-EBV negative (<20U/mL), IgG EBNA negative (<3U/mL) and PCR for EBV negative; immunofluorescence and immunoblot serologies for Leishmania spp. were positive. Bone marrow examination did not reveal hemophagocytosis and PCR for Leishmania and EBV was negative. Treatment was initiated with lipossomic amphotericin with progressive improvement of the clinical condition. Discussion: Although serology for Leishmania is not the gold standard for diagnosis, it’s positivity in this case and the epidemiologic history lead to a favourable outcome.
- Pulmonary artery sling: a rare cause of stridor and respiratory distressPublication . Santos, N; Almeida, T; Janeiro, MC; Martins, D
- Seropositivity rate and sociodemographic factors associated to HIV, HBV, HCV and syphilis among parturients from Irene Neto Maternity of Lubango city, AngolaPublication . Oliveira, D; Martins, MDR; Castro, R; Cordeiro, L; Barroso, MR; Nazaré, MA, et al.OBJECTIVES: To characterise infections by HIV, Treponema pallidum, hepatitis B (HBV) and C virus (HCV) in parturients admitted to Irene Neto Maternity, Lubango city, Huíla province, Angola, namely its seropositivity rate and its association with sociodemographic factors. METHODS: An observational, cross-sectional and analytical facility-based survey was conducted among 500 parturients at Irene Neto Maternity, from October 2016 to September 2017. Women in labour were screened for antibodies against HIV-1/2, T. pallidum and HCV. Antigen detection was used to diagnose HBV infections. Sociodemographic data were also collected. The seropositivity rate and respective CIs were estimated at a level of 95%. Multivariable logistic regression models were performed to explore the association between the studied infections and sociodemographic factors. RESULTS: In 11.8% of the parturients (95% CI 9.3 to 14.9), at least one infection was detected. HBV infection was the most common (8.6%), followed by HIV infection (3.0%) and syphilis (1.0%). Coinfection with HBV and HIV was observed in two parturients (0.4%) and HBV, HIV and T. pallidum were all detected in one parturient (0.2%). No HCV infection was detected. For each additional year of formal education, pregnant women had a 10.0% lower chance of being infected with HBV (adjusted OR=0.900, 95% CI 0.816 to 0.992). CONCLUSIONS: This study is one of the few reports contributing for the knowledge of some sexually transmitted infections epidemiology in Angola. The seropositivity rate of the studied infections is of concern, especially the high endemicity of HBV. There is a need for a stronger commitment and further research to design cost-effective public health and clinical interventions to improve the situation.
- Biomarkers and genetic modulators of cerebral vasculopathy in sub-Saharan ancestry children with sickle cell anemiaPublication . Silva, M; Vargas, S; Coelho, A; Ferreira, E; Mendonça, J; Vieira, L; Maia, R; Dias, A; Ferreira, T, et al.We investigated biomarkers and genetic modulators of the cerebral vasculopathy (CV) subphenotype in pediatric sickle cell anemia (SCA) patients of sub-Saharan African ancestry. We found that one VCAM1 promoter haplotype (haplotype 7) and VCAM1 single nucleotide variant rs1409419_T were associated with stroke events, stroke risk, as measured by time-averaged mean of maximum velocity in the middle cerebral artery, and with high serum levels of the hemolysis biomarker lactate dehydrogenase. Furthermore, VCAM-1 ligand coding gene ITGA4 variants rs113276800_A and rs3770138_T showed a positive association with stroke events. An additional positive relationship between a genetic variant and stroke risk was observed for ENPP1 rs1044498_A. Conversely, NOS3 variants were negatively associated with silent cerebral infarct events (VNTR 4b_allele and haplotype V) and CV globally (haplotype VII). The -alpha3.7kb-thal deletion did not show association with CV. However, it was associated with higher red blood cell and neutrophil counts, and lower mean corpuscular volume, mean corpuscular hemoglobin and red cell distribution width. Our results underline the importance of genetic modulators of the CV sub-phenotype and their potential as SCA therapeutic targets. We also propose that a biomarker panel comprising biochemical, hematological, imaging and genetic data would be instrumental for CV prediction, and prevention.
- Atopic Dermatitis Host and Environment Model: Revisiting Therapeutic OptionsPublication . Lopes, A; Sokolova, A; Abreu, C; Lopes, CAtopic Dermatitis affects both children and adults and is a serious health concern in many countries. AD is a complex disease with host and environmental factors underlying its pathology. Its treatment is multidimensional reflecting the diverse nature of its triggers and includes emollients, topical steroids and calcineurin inhibitors among others. Immunological dysfunction can be addressed broadly with systemic immunosupressors and specifically with monoclonal antibodies. Dupilumab, which targets IL-4 and IL-13 was granted approval for treatment of moderate-to-severe AD. Biologics targeting IgE/Th2 pathways may have its role in patients with overlapping AD and asthma. Psychological distress can exacerbate symptoms and is associated with increased severity of AD. Environmental triggers, such as, allergens can be addressed in selected cases with allergic immunotherapy. In this paper, we discuss AD treatment and propose a new step-by-step approach aiming at maintaining disease control and improving quality of life.
- CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric CohortPublication . Santos-Silva, R; Cardoso, R; Lopes, L; Fonseca, M; Espada, F; Sampaio, L; Brandão, C; Antunes, A; Bragança, G, et al.BACKGROUND: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder characterized by 3 overlapping phenotypes: salt-wasting (SW), simple virilizing (SV), and non-classic (NC). We aimed at conducting a nationwide genotype description of the CAH pediatric patients and to establish their genotype-phenotype correlation. METHODS: CAH patients were recruited from Portuguese pediatric endocrinology centers and classified as SW, SV, or NC. Genetic analysis was performed by polymerase chain reaction (sequence specific primer, restriction fragment length polymorphism) or direct Sanger sequencing. Genotypes were categorized into 4 groups (0, A, B, and C), according to their predicted enzymatic activity. In each group, the expected phenotype was compared to the observed phenotype to assess the genotype-phenotype correlation. RESULTS: Our cohort comprises 212 unrelated pediatric CAH patients (29% SW, 11% SV, 60% NC). The most common pathogenic variant was p.(Val282Leu; 41.3% of the 424 alleles analyzed). The p.(Val282Leu) variant, together with c.293-13A/C>G, p.(Ile173Asn), p.(Leu308Thr), p.(Gln319*), and large deletions/conversions were responsible for 86.4% of the mutated alleles. Patients' stratification by disease subtype revealed that the most frequent pathogenic variants were c.293-13A/C>G in SW (31.1%), p.(Ile173Asn) in SV (46.9%), and p.(Val282Leu) in NC (69.5%). The most common genotype was homozygosity for p.(Val282Leu; 33.0%). Moreover, we found 2 novel variants: p.(Ile161Thr) and p.(Trp202Arg), in exons 4 and 5, respectively. The global genotype-phenotype correlation was 92.4%. Group B (associated with the SV form) showed the lowest genotype-phenotype correlation (80%). CONCLUSION: Our cohort has one of the largest NC CAH pediatric populations described. We emphasize the high frequency of the p.(Val282Leu) variant and the very high genotype-phenotype correlation observed.
- Unilateral leukemic infiltration and acute angle closure as the first sign of B-cell acute lymphoblastic leukemia relapsePublication . Silva, D; Mota, M; Bilé, A; Ramalho, M; Pinto, S; Pires, G; Teixeira, S; Prieto, IObjective: Unilateral ocular leukemic infiltration with acute angle closure is an infrequent complication of B-cell acute lymphoblastic leukemia (ALL-B). We present a clinical case of leukemic ocular infiltration as the sole manifestation of ALL-B relapse. Methods: Case description Results: A 15-year-old female with a history of acute lymphoblastic leukemia in remission for 2 years and pulmonary tuberculosis treated in the past year presented with ocular redness and decreased visual acuity in the left eye (LE) with 5 days of evolution. Visual acuity was 20/20 in the right eye (RE) and absence of light perception in the left eye (LE). Biomicroscopy of LE showed a small hypopion, anterior chamber cells 4+, vitreous cells 3+, and a large white mass in the vitreous with associated vitreous hemorrhage in organization. In LE fundoscopy, the vitreous mass occupying most of the vitreous cavity and associated hemorrhage prevented retina visualization. B-scan ultrasound showed a multilobulated mass occupying virtually the entire vitreous cavity with associated choroidal detachment. Forty-eight hours later, she developed acute angle closure of LE with an IOP of 55 mmHg. A flow cytometric analysis of the anterior chamber and vitreous showed leukemic tumor cells. The microbiologic exam and PCR for Mycobacterium tuberculosis were negative. No other signs of relapse of the disease were identified after investigation by the oncology department. Rescue treatment of the underlying disease was started, with symptomatic improvement. Conclusion: Leukemic ocular infiltration can be the only manifestation of ALL-B relapse.
- Small for gestational age very preterm infants present a higher risk of developing bronchopulmonary dysplasiaPublication . Rocha, G; Lima, F; Machado, AP; Guimarães, H; Proença, E; Carvalho, C; Barroso, R, et al.INTRODUCTION: Several studies assessed the influence of a low birth weight on bronchopulmonary dysplasia (BPD), but not all could find a significant association. Our aim was to assess the association between low birth weight and BPD in preterm infants, prospectively recruited at 11 level III Portuguese neonatal centers. METHODS: Obstetrical and neonatal data on mothers and preterm infants with gestational ages between 24 and 30 weeks, born during 2015 and 2016 after a surveilled pregnancy, were analyzed. Neonates were considered small for gestational age (SGA) when their birthweight was below the 10th centile of Fenton's growth chats and BPD was defined as the dependency for oxygen therapy until 36 weeks of corrected age. Statistical analysis was performed using IBM SPSS ® statistics 23 and a p-value <0.05 was considered statistically significant. RESULTS: Out of 614, a total of 494 preterm infants delivered from 410 women were enrolled in the study; 40 (8.0% ) infants with SGA criteria. SGA were more often associated with a single pregnancy, had greater use of antenatal corticosteroids, increased prevalence of gestational hypertensive disorders, C-section, rupture of membranes below 18 hours, rate of intubation in the delivery room, use of surfactant treatment, oxygen therapy, mechanical ventilation need, BPD, cystic periventricular leukomalacia, nosocomial sepsis and pneumonia; had lower prevalence of chorioamnionitis, and lower Apgar scores. The multivariate analysis by logistic regression, adjusted for BPD risk factors revealed a significant association between SGA and BPD: OR = 5.2 [CI: 1.46-18.58]; p = 0.01. CONCLUSION: The results of this study increase the scientific evidence that SGA is an independent risk factor for BPD.
- Leigh syndrome with atypical cerebellar lesionsPublication . Veiga, M; Marecos, C; Duarte, S; Vieira, JP; Conceição, CLeigh Syndrome is a neurodegenerative disorder caused by mitochondrial dysfunction, with significant phenotypic and genetic heterogeneity. It usually presents in early life, with a severe prognosis. It can be caused by more than 75 different gene mutations, of nuclear and mitochondrial origin, involving all respiratory chain complexes, with less than 25% of Leigh syndrome having mitochondrial DNA mutations. The typical pathologic hallmarks are focal, bilateral, and symmetric lesions in the basal ganglia, thalamus, cerebellum, cerebral white matter and spinal cord gray matter, usually with T2WI and FLAIR hyperintensity. The basal ganglia and thalami frequently present with a pattern of cytotoxic edema. We present one case with clinical and analytical features consistent with Leigh Syndrome, with peculiar imaging features, showing dominant cerebellar edematous changes with unexpected petechial component suggestive of microangiopathy. To our knowledge, these features are unreported and suggest the existence of microvascular lesions. Based on the reported imaging findings, we propose that Leigh Syndrome should be added to the differential diagnosis of acute cerebellitis.