Browsing by Author "Sampaio, R."
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- Chronic granulomatous disease as a risk factor for cutaneous lupus in childhoodPublication . Carvalho, S.; Machado, S.; Sampaio, R.; Guedes, M.; Vasconcelos, J.; Semedo, D.; Selores, M.Chronic granulomatous disease (CGD) is a primaryimmunodeficiency disorder that affects the phagocyticcells of the innate immune system. It is characterizedby recurrent or persistent infections with granulomaformation. Lupus-like lesions have been reported incarriers of CGD and less frequently, in patients withCGD. Immunological study in these patients areusually negative. We describe the case of an 8-yearoldboy with CGD who developed chronic and acutecutaneous lupus erythematous with angular cheilitis,oral ulcers, Raynaud phenomenon, and positiveserologies for antinuclear, anticentromere, and anti-Saccharomyces cerevisiae antibodies.
- Incidence and Health Related Quality of Life of Opioid-Induced Constipation in Chronic Noncancer Pain Patients: A Prospective Multicentre Cohort StudyPublication . Veiga, D.; Mendonça, L.; Sampaio, R.; Lopes, J.; Azevedo, L.High rates of opioid use for chronic noncancer pain (CNCP) have been reported worldwide, despite its association with adverse events, inappropriate use, and limited analgesic effect. Opioid-induced constipation (OIC) is the most prevalent and disabling adverse effect associated with opioid therapy. Our aim was to assess the incidence, health related quality of life (HRQOL), and disability in OIC patients.
- Infantile bullous pemphigoid with "string of pearls sign"Publication . Raposo, I.; Machado, S.; Sampaio, R.; Selores, M.Bullous pemphigoid (BP) is an immune mediated bullous disease that is manifested by urticarial plaques with superimposed subepidermal blisters and significant pruritus. It is generally found in the elderly, but is rare in the pediatric population. A 5-month-old girl previously diagnosed with hand-foot-mouth disease was examined in our dermatology department owing to vesicles and bullae, initially located to the hands and feet, which progressed with new lesions. Tense vesicles and bullae distributed in an annular string of pearls pattern on the abdomen and facial and cervical regions were noted. Histologic and immunologic findings were consistent with the diagnosis of infantile BP. Disease control was obtained with oral prednisolone and dapsone; the patient was still in clinical remission 6 months after treatment cessation. The differential diagnosis of the clinical presentation of the lesions in our patient is of note, given that this blistering pattern is frequently reported in association with linear IgA bullous dermatosis.
- Interventional Pain Management in Multidisciplinary Chronic Pain Clinics: A Prospective Multicenter Cohort Study with One-Year Follow-UpPublication . Gouvinhas, C.; Veiga, D.; Mendonça, L.; Sampaio, R.; Azevedo, L.; Castro-Lopes, J.Background: Interventional Pain Management (IPM) is performed in multidisciplinary chronic pain clinics (MCPC), including a range of invasive techniques to diagnose and treat chronic pain (CP) conditions. Current patterns of use of those techniques in MCPC have not yet been reported. Objective: We aimed to describe quantitatively and qualitatively the use of IPM and other therapeutic procedures performed on-site at four Portuguese MCPC. Methods: A prospective cohort study with one-year follow-up was performed in adult patients. A structured case report form was systematically completed at baseline and six and 12 months. Results: Among 808 patients referred to the MCPC, 17.2% had been prescribed IPM. Patients with IPM were on average younger and had longer CP duration and lower levels of maximum pain and pain interference/disability. The three main diagnoses were low back pain (n = 28), postoperative CP, and knee pain (n = 16 each). From 195 IPM prescribed, nerve blocks (n = 108), radiofrequency (n = 31), and viscosupplementation (n = 22) were the most prevalent. Some IPM techniques were only available in few MCPC. One MCPC did not provide IPM. Conclusions: IPM are seldom prescribed in Portuguese MCPC. Further studies on IPM safety and effectiveness are necessary for clear understanding the role of these techniques in CP management.
- Membranoproliferative glomerulonephritis and x-linked agammaglobulinemia: an uncommon associationPublication . Lavrador, V.; Correia, F.; Sampaio, R.; Candido, C.; Sameiro-Faria, M.; Marques, L.; Mota, C.Introduction. X-linked agammaglobulinemia (XLA) is a primary immunodeficiency characterized by agammaglobulinemia requiring replacement treatment with immunoglobulin. The association of XLA and membranoproliferative glomerulonephritis (MPGN) is unexpected and, to our knowledge, only one case was previously published. Case Report. The authors report the case of a 10-year-old boy with family history and prenatal diagnosis of XLA, treated from birth with intravenous immunoglobulin replacement therapy. He presented with pneumonia, macroscopic hematuria, nephrotic proteinuria, hypoalbuminemia, and hypercholesterolemia with normal renal function and serum complement levels. Renal histology showed immune complex mediated MPGN. He was started on high dose prednisolone and ramipril and switched to weekly subcutaneous immunoglobulin. After a 4-month treatment, hematuria and proteinuria significantly improved and prednisolone was gradually tapered without relapse. Conclusion. The pathogenic process underlying MPGN development in this patient is unknown but residual humoral immunity might play an important role. Thus, this case highlights the risk of autoimmune disorders among patients with XLA
- Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcomePublication . Fernandes, I.; Sampaio, R.; Moreno, F.; Palla-Garcia, J.; Teixeira, M.; Freitas, I.; Neves, E.; Jara-Acevedo, M.; Escribano, L.; Lima, M.BACKGROUND: Mastocytosis are rare diseases characterized by an accumulation of clonal mast cells (MCs) in one or multiple organs or tissues. Patients with systemic mastocytosis (SM), whose MCs frequently arbor the activating D816V KIT mutation, may have indolent to aggressive diseases, and they may experience MC mediator related symptoms. Indolent SM with recurrent anaphylaxis or vascular collapse in the absence of skin lesions, ISMs(-), is a specific subtype indolent SM (ISM), and this clonal MC activation disorder represents a significant fraction of all MC activation syndromes. The V560G KIT mutation is extremely rare in patients with SM and its biological and prognostic impact remains unknown. CASE PRESENTATION: A 15-year old boy was referred to our hospital because of repeated episodes of flushing, hypotension and syncope since the age of 3-years, preceded by skin lesions compatible with mastocytosis on histopathology that had disappeared in the late-early childhood. Diagnosis of ISM, more precisely the ISMs(-) variant, was confirmed based on the clinical manifestations together with increased baseline serum tryptase levels and the presence of morphologically atypical, mature appearing (CD117+high, FcεRI+) phenotypically aberrant (CD2+, CD25+) MCs, expressing activation-associated markers (CD63, CD69), in the bone marrow. Molecular genetic studies revealed the presence of the KIT V560G mutation in bone marrow MCs, but not in other bone marrow cells, whereas the screening for mutations in codon 816 of KIT was negative. The patient was treated with oral disodium cromoglycate and the disease had a favorable outcome after an eleven-year follow-up period, during which progressively lower serum tryptase levels together with the fully disappearance of all clinical manifestations was observed. CONCLUSIONS: To the best of our knowledge this first report of a patient with ISM, whose bone marrow MCs carry the KIT V560G activating mutation, manifesting as recurrent spontaneous episodes of flushing and vascular collapse in the absence of skin lesions at the time of diagnosis, in whom disodium cromoglycate had led to long term clinical remission.
- Urachal Tumor: A Case Report of an Extremely Rare CarcinomaPublication . Garcia, J.; Sampaio, R.; Peixoto, C.The urachus is a tubular structure that connects the bladder to the allantois in the embryonic development, involuting after the third trimester. The urachus carcinoma is an extremely rare tumor that accounts for <1% of all bladder cancers. We report a case of a 46-year-old woman, with no past medical history, complaining of hematuria with 6-month duration and a physical exam and an abdominal computed topographic scan revealing an exophytic mass of 6.8 cm longer axis that grew depending on the anterior bladder wall, invading the anterior abdominal wall. Cystoscopy detected mucosal erosion. The biopsy showed structures of adenocarcinoma of enteric type. The surgical specimen showed urachus adenocarcinoma of enteric type with stage IVA in the Sheldon system and stage III in the Mayo system. This case has a 3-year follow-up without disease recurrence.