INF PED - Artigos
Permanent URI for this collection
Browse
Recent Submissions
- Cold Agglutinin Syndrome and Hemophagocytic Lymphohistiocytosis: An Unusual Combination Caused by Epstein–Barr Virus InfectionPublication . Sousa Nunes, B; Gouveia, C; Kjollerstrom, P; Farela Neves, JAutoimmune hemolytic anemia (AIHA) and hemophagocytic lymphohistiocytosis (HLH) are rare complications of infectious mononucleosis. The authors describe a 12-year-old male with acute infectious mononucleosis, hepatitis, cholestasis, and an autoimmune hemolytic disorder caused by cold agglutinins IgM (anti-i specificity). Clinical deterioration with persistent fever, anemia, and hepatosplenomegaly was consistent with cold AIHA plus concomitant HLH. The patient was treated with corticosteroids and acyclovir, with an uneventful recovery. Although rare, cold agglutinin syndrome and HLH can complicate infectious mononucleosis and should be considered in a patient with clinical deterioration. Corticosteroids are the mainstay treatment of HLH and may be beneficial in infection-associated cold agglutinin syndrome.
- Actinomycetoma by Cellulosimicrobium Cellulans in a Young Man from Guinea-Bissau: Short Literature Review Regarding a Case ReportPublication . Trindade Torres, M; Sousa Nunes, B; Varandas, L; Maltez, FMycetoma is caused by the subcutaneous inoculation of filamentous fungi or aerobic filamentous bacteria. Cellulosimicrobium cellulans is a gram-positive bacterium from the order Actinomycetales that rarely causes human disease. The diagnosis is based on the clinical presentation and identification of the causative microorganism. We present a short literature review regarding the case report of a young man diagnosed with actinomycetoma due to Cellulosimicrobium cellulans and who received treatment with an association of amikacin and sulfamethoxazole/ trimethoprim (Welsh regimen).
- An Eleven-Year-Old Boy With Arthritis of the Hip Joint, and an 8-Year-Old Boy With SacroiliitisPublication . Mendo, T; Norte, S; Alves, P; Tavares, D; Pinto, M; Gouveia, C
- Hemophagocytic Lymphohistiocytosis in an Adolescent with NLRP12‐Related Autoinflammatory Disorder - A Case ReportPublication . Hormigo, I; Valente Pinto, M; Cordeiro, AI; Henriques, C; Martins, C; Parente Freixo, J; Conde, M; Gouveia, C; Farela Neves, J
- Sustained Increase of Paediatric Invasive Streptococcus Pyogenes Infections Dominated by M1UK and Diverse Emm12 isolates, Portugal, September 2022 to May 2023Publication . Gouveia, C; Bajanca-Lavado, MP; Mamede, R; Araújo Carvalho, A; Rodrigues, F; Melo-Cristino, J; Ramirez, M; Friães, Aince autumn 2022, observed numbers of paediatric invasive group A Streptococcus infections in Portugal (n = 89) were higher than in pre-COVID-19 seasons. Between September 2022 and May 2023, the dominant diagnoses were pneumonia (25/79), mostly with empyema (20/25), and sepsis (22/79). A number of cases required admission to intensive care (27/79) and surgery (35/79), and the case fatality rate was 5.1% (4/79). Genomic sequencing (n = 55) revealed multiple genetic lineages, dominated by the M1UK sublineage (26/55) and more diverse emm12 isolates (12/55).
- Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune DysregulationPublication . Ouahed, J; Kelsen, JR; Spessott, WA; Kooshesh, K; Sanmillan, ML; Dawany, N; Sullivan, KE; Hamilton, KE; Slowik, V; Nejentsev, S; Farela Neves, J; Flores, H; Chung, WK; Wilson, A; Anyane-Yeboa, K; Wou, K; Jain, P; Field, M; Tollefson, S; Dent, MH; Li, D; Naito, T; McGovern, DPH; Kwong, AC; Taliaferro, F; Ordovas-Montanes, J; Horwitz, BH; Kotlarz, D; Klein, C; Evans, J; Dorsey, J; Warner, N; Elkadri, A; Muise, AM; Goldsmith, J; Thompson, B; Engelhardt, KR; Cant, AJ; Hambleton, S; Barclay, A; Toth-Petroczy, A; Vuzman, D; Carmichael, N; Bodea, C; Cassa, CA; Devoto, M; Maas, RL; Behrens, EM; Giraudo, CG; Snapper, SBBackground and aims: Very early onset inflammatory bowel disease [VEOIBD] is characterized by intestinal inflammation affecting infants and children less than 6 years of age. To date, over 60 monogenic aetiologies of VEOIBD have been identified, many characterized by highly penetrant recessive or dominant variants in underlying immune and/or epithelial pathways. We sought to identify the genetic cause of VEOIBD in a subset of patients with a unique clinical presentation. Methods: Whole exome sequencing was performed on five families with ten patients who presented with a similar constellation of symptoms including medically refractory infantile-onset IBD, bilateral sensorineural hearing loss and, in the majority, recurrent infections. Genetic aetiologies of VEOIBD were assessed and Sanger sequencing was performed to confirm novel genetic findings. Western analysis on peripheral blood mononuclear cells and functional studies with epithelial cell lines were employed. Results: In each of the ten patients, we identified damaging heterozygous or biallelic variants in the Syntaxin-Binding Protein 3 gene [STXBP3], a protein known to regulate intracellular vesicular trafficking in the syntaxin-binding protein family of molecules, but not associated to date with either VEOIBD or sensorineural hearing loss. These mutations interfere with either intron splicing or protein stability and lead to reduced STXBP3 protein expression. Knock-down of STXBP3 in CaCo2 cells resulted in defects in cell polarity. Conclusion: Overall, we describe a novel genetic syndrome and identify a critical role for STXBP3 in VEOIBD, sensorineural hearing loss and immune dysregulation.
- Signo de la Raqueta de Tenis: Un Caso de Tuberculosis Pulmonar ComplicadaPublication . Alves, S; Póvoas, D; Silva, T
- Plerixafor for the Treatment of WHIM SyndromePublication . McDermott, DH; Pastrana, DV; Calvo, KR; Pittaluga, S; Velez, D; Cho, E; Liu, Q; Trout, HH; Farela Neves, J; Gardner, PJ; Bianchi, DA; Blair, EA; Landon, EM; Silva, SL; Buck, CB; Murphy, PMWHIM syndrome (warts, hypogammaglobulinemia, infections, and myelokathexis), a primary immunodeficiency disorder involving panleukopenia, is caused by autosomal dominant gain-of-function mutations in CXC chemokine receptor 4 (CXCR4). Myelokathexis is neutropenia caused by neutrophil retention in bone marrow. Patients with WHIM syndrome are often treated with granulocyte colony-stimulating factor (G-CSF), which can increase neutrophil counts but does not affect cytopenias other than neutropenia. In this investigator-initiated, open-label study, three severely affected patients with WHIM syndrome who could not receive G-CSF were treated with low-dose plerixafor, a CXCR4 antagonist, for 19 to 52 months. Myelofibrosis, panleukopenia, anemia, and thrombocytopenia were ameliorated, the wart burden and frequency of infection declined, human papillomavirus-associated oropharyngeal squamous-cell carcinoma stabilized, and quality of life improved markedly. Adverse events were mainly infections attributable to the underlying immunodeficiency. One patient died from complications of elective reconstructive surgery. (Funded by the National Institutes of Health.).
- Signo de la Raqueta de Tenis: un Caso de Tuberculosis Pulmonar ComplicadaPublication . Alves, S; Póvoas, D; Silva, T
- ‘TB OR NOT TB?’: The Importance of Appropriate ScreeningPublication . Lemos, AP; Garcia, AM; Candeias, F; Brito, MJ