Browsing by Issue Date, starting with "2018"
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- A Known Pathogenic Variant in the Essential Mitochondrial Translation Gene RMND1 Causes a Perrault-Like Syndrome with Renal DefectsPublication . Demain, LAM; Antunes, D; O'Sullivan, J; Bhaskhar, SS; O'Keefe, RT; Newman, WG
- Mucosite Associada a Mycoplasma PneumoniaePublication . Martins, R; Malheiro, R; Pinheiro, J; Fernandes, A; Ramazanova, A; Magalhães, IA Síndrome de Stevens-Johnson (SSJ) e a Necrólise Epidérmica Tóxica pertencem a um espetro de doenças raras, potencialmente fatais, distinguindo-se pela área corporal afetada. A mucosite é comum aos dois quadros, frequentemente inaugural e pode ocorrer isoladamente. É o caso da mucosite associada a Mycoplasma pnemoniae, também designada SSJ atípica, que se caracteriza por pródromo respiratório seguido de mucosite oral e ocular extensa, sem manifestações cutâneas. Descreve-se o caso de uma criança de 4 anos, do sexo masculino, com apresentação de mucosite severa associada ao Mycoplasma pneumoniae, na sequência de infeção respiratória baixa, medicada com azitromicina. Após dois dias, recorreu à urgência do Hospital Dona Estefânia por edema e lesões na mucosa labial com agravamento progressivo. No internamento, apresentava estomatite com lesões erosivas em diferentes fases evolutivas e extenso compromisso do vermelhão. Predominavam erosões, crostas e hemorragia, existindo também áreas com exsudado purulento e coalescência de “placas de descamação”. Estas alterações coexistiam com olho vermelho. Sem compromisso das restantes mucosas ou exantema. Durante o internamento, privilegiaram-se medidas de suporte associadas a limpeza cirúrgica da cavidade oral, interposição labial de “boneca” embebida em soro fisiológico e lubrificação do vermelhão com vaselina. As pesquisas de IgG e IgM para Mycoplasma pnemoniae foram positivas. Após 13 dias de internamento, teve alta com retitutio ad integrum.
- Treatment of Allergic Rhinitis Using Mobile Technology with Real-World Data: the MASK Observational Pilot StudyPublication . Bousquet, J; Devillier, P; Arnavielhe, S; Bedbrook, A; Alexis-Alexandre, G; van Eerd, M; Murray, R; Canonica, GW; Illario, M; Menditto, E; Passalacqua, G; Stellato, C; Triggiani, M; Carreiro-Martins, P; Fonseca, J; Morais Almeida, M; Nogueira-Silva, L; Pereira, AM; Todo Bom, A; Bosse, I; Caimmi, D; Demoly, P; Fontaine, JF; Just, J; Onorato, G L; Kowalski, ML; Kuna, P; Samolinski, B; Anto, JM; Mullol, J; Valero, A; Tomazic, PV; Bergmann, KC; Keil, T; Klimek, L; Mösges, R; Shamai, S; Zuberbier, T; Murphy, E; McDowall, P; Price, D; Ryan, D; Sheikh, A; Chavannes, NH; Fokkens, W J; Kvedariene, V; Valiulis, A; Bachert, C; Hellings, PW; Kull, I; Melen, E; Wickman, M; Bindslev-Jensen, C; Eller, E; Haahtela, T; Papadopoulos, NG; Annesi-Maesano, I; Bewick, M; Bosnic-Anticevich, S; Cruz, A A; De Vries, G; Gemicioglu, B; Larenas-Linnemann, D; Laune, D; Mathieu-Dupas, E; O'Hehir, RE; Pfaar, O; Portejoie, F; Siroux, V; Spranger, O; Valovirta, E; VandenPlas, O; Yorgancioglu, ABackground: Large observational implementation studies are needed to triangulate the findings from randomized control trials as they reflect "real-world" everyday practice. In a pilot study, we attempted to provide additional and complementary insights on the real-life treatment of allergic rhinitis (AR) using mobile technology. Methods: A mobile phone app (Allergy Diary, freely available in Google Play and Apple App stores) collects the data of daily visual analog scales (VAS) for (i) overall allergic symptoms, (ii) nasal, ocular, and asthma symptoms, (iii) work, as well as (iv) medication use using a treatment scroll list including all medications (prescribed and over the counter (OTC)) for rhinitis customized for 15 countries. Results: A total of 2871 users filled in 17 091 days of VAS in 2015 and 2016. Medications were reported for 9634 days. The assessment of days appeared to be more informative than the course of the treatment as, in real life, patients do not necessarily use treatment on a daily basis; rather, they appear to increase treatment use with the loss of symptom control. The Allergy Diary allowed differentiation between treatments within or between classes (intranasal corticosteroid use containing medications and oral H1-antihistamines). The control of days differed between no [best control], single, or multiple treatments (worst control). Conclusions: This study confirms the usefulness of the Allergy Diary in accessing and assessing everyday use and practice in AR. This pilot observational study uses a very simple assessment (VAS) on a mobile phone, shows novel findings, and generates new hypotheses.
- Claudicação da Marcha - Três Casos, Três Diagnósticos...Publication . Duarte, M; Ramos, S; Conde, M; Gouveia, CIntrodução: A claudicação da marcha na criança é frequente tendo múltiplas etiologias (infeciosa, traumática, inflamatória, mecânica ou neoplásica). Apresentam-se três casos de gonalgia com diagnósticos distintos. Caso clínico:Caso clínico 1: Rapaz de 2 anos, com gonalgia com 4 dias de evolução, sinais inflamatórios e limitação funcional. Sem leucocitose, PCR 87mg/L, VS 68mm/h e ecografia com derrame articular. Realizou artrocentese com identificação de Kingellakingae no líquido articular, confirmando o diagnóstico de artrite séptica. Medicado com cefuroxime (30 dias) com ótima evolução. Caso clínico 2: Rapaz de 2 anos, com gonalgia há 15 dias, limitação da extensão do joelho e calor local. Análises com PCR 6.9mg/L, VS 30mm/h, ANAs positivos 1/160 e ecografia com derrame articular e sinovite. Submetido a artrocentese com HC e LA estéreis, não tendo apresentado resposta à antibioterapia (AB). Às 7 semanas por manter quadro com ritmo inflamatório foi feito o diagnóstico de artrite idiopática juvenil oligoarticular, medicado com anti-inflamatório e sinovectomia química com melhoria. Caso clínico 3: Rapaz de 3 anos, com gonalgia persistente com 3 semanas de evolução e sinais inflamatórios. Analiticamente sem parâmetros inflamatórios e sem resposta à AB. Radiografia com reação periosteal e alteração da densidade do fémur. Ressonância magnética evidenciou lesão ocupando espaço femoral distal sólida e heterogénea. A biópsia confirmou osteossarcoma de alto grau. Realizou quimioterapia e aguarda cirurgia. Conclusões: Estes casos ilustram a heterogeneidade e amplo espectro de gravidade etiológica dos quadros de claudicação da marcha. Apesar de frequentemente associados a quadros benignos, também podem ser resultado de patologias graves e crónicas.
- Evaluation of Fetal Death after 24 WeeksPublication . Serrano, F; Centeno, M; Ramalho, CEsta norma de orientação clínica destina-se ao estudo de todas os casos de morte fetal após as 24 semanas ou, nos casos em que se desconheça a idade gestacional, de fetos cujo peso seja superior a 500 gramas
- Chronic Lacrimal Canaliculitis - the Answer to a Three-Year History of Red EyePublication . Basílio, AL; Cabugueira, A; Borges, B; Flores, R; Amaro, A; Magriço, AChronic lacrimal canaliculitis is a rare infection of the lacrimal system, and can lead to misdiagnosis due to its overlapping presentation to other common entities. The authors report a case of lacrimal canaliculitis with a three-year history of recurrent unilateral red eye and mucopurulent discharge. Here, we describe the clinical course, surgical details, and microbial analysis of canaliculitis infection.
- Bilateral Ectropion and Eclabium: Clues for Diagnosis of Congenital IchthyosisPublication . Milheiro Silva, T; Paiva Lopes, MJ; Lage, MJ
- Nodular Vasculitis Associated with Lung AdenocarcinomaPublication . Borges, AS; Brasileiro, A; Apetato, MNodular vasculitis is an uncommon type of panniculitis. It was firstly associated to the infection by Mycobacterium tuberculosis and named erythema induratum of Bazin, however nowadays it has been associated with several other underlying disorders and it is better described as nodular vasculitis. Concerning its relationship with malignant conditions, there is only one reported case, in association with metastatic colon adenocarcinoma. We report a case of nodular vasculitis as the first manifestation of lung adenocarcinoma. To the best of our knowledge, this is the first reported association of both diseases.
- Congenital Solitary Functioning Kidney and Other Associated Congenital MalformationsPublication . Carvalho, T; Francisco, T; Santos, R; Abranches, MIntroduction: Congenital solitary functioning kidney (CSFK) is associated to other congenital anomalies. Most of them involve urogenital tract, cardiac, skeletal and central nervous system. There are also some syndromes associated to renal malformations. Objective: To determine the prevalence of associated malformations in children with CSFK. Material and methods: We reviewed 134 electronic processes of children with CFSK followed in a terciary department of paediatric nephrology between 2012 and 2016. Results: Ages ranged from neonatal period to 18 years old (6.6±4.4 years). Prenatal diagnosis of solitary kidney was made in 89 cases (66.4%), and agenesia was the etiology in 33.5%. We found 41 children with at least one more malformation (30.6 %). One quarter of children with postnatal diagnosis of CSFK (7/28) had other anomalies. From all children with diagnosis of agenesia, 80% had at least one more malformation, whereas only 30% of other CSFK’s etiology had other anomaly indentified. Urological anomalies were the most frequent (34.1%); however, 27/41 children (65.8%) had at least one malformation of other system, without an urological anomaly. Gastrointestinal anomalies were identified 21.9%, cardiovascular anomalies 19.5%, genital malformations in 19.5%, neurological anomalies in 14.6% and other organ anomalies in 17%. The non-urological congenital malformation more frequent was single umbilical artery (12.2%). Fourteen children (34.1%) had their anomalies included in a syndrome, all them associated with renal anomalies in previous studies. Chronic kidney disease was seen in five of 134 children, three of which with another malformation. Conclusions: This study intends to recall that CSFK may not be the only congenital malformation in a child. It also highlights that there are other anomalies besides urological tract that may be present and must be investigated, especially if there is a diagnosis of true renal agenesia. A good prenatal care and careful follow-up of children with CSFK are essential.
- Effect of Additional Treatments Combined with Conventional Therapies in Pregnant Patients with High-Risk Antiphospholipid Syndrome: A Multicentre StudyPublication . Ruffatti, A; Tonello, M; Hoxha, A; Sciascia, S; Cuadrado, MJ; Latino, JO; Udry, S; Reshetnyak, T; Costedoat-Chalumeau, N; Morel, N; Marozio, L; Tincani, A; Andreoli, L; Haladyj, E; Meroni, PL; Gerosa, M; Alijotas-Reig, J; Tenti, S; Mayer-Pickel, K; Simchen, MJ; Bertero, MT; De Carolis, S; Ramoni, V; Mekinian, A; Grandone, E; Maina, A; Serrano, F; Pengo, V; Khamashta, MAThe effect of additional treatments combined with conventional therapy on pregnancy outcomes was examined in high-risk primary antiphospholipid syndrome (PAPS) patients to identify the most effective treatment strategy. The study's inclusion criteria were (1) positivity to lupus anticoagulant alone or associated with anticardiolipin and/or anti-β2 glycoprotein I antibodies; (2) a history of severe maternal-foetal complications (Group I) or a history of one or more pregnancies refractory to conventional therapy leading to unexplained foetal deaths not associated with severe maternal-foetal complications (Group II). Two different additional treatments were considered: oral-low-dose steroids (10-20 mg prednisone daily) and/or 200 to 400 mg daily doses of hydroxychloroquine and parenteral-intravenous immunoglobulins at 2 g/kg per month and/or plasma exchange. The study's primary outcomes were live birth rates and pregnancy complications. A total of 194 pregnant PAPS patients attending 20 tertiary centres were retrospectively enrolled. Hydroxychloroquine was found to be linked to a significantly higher live birth rate with respect to the other oral treatments in the Group II patients. The high (400 mg) versus low (200 mg) doses of hydroxychloroquine (p = 0.036) and its administration before versus during pregnancy (p = 0.021) were associated with a significantly higher live birth rate. Hydroxychloroquine therapy appeared particularly efficacious in the PAPS patients without previous thrombosis. Parenteral treatments were associated with a significantly higher live birth rate with respect to the oral ones (p = 0.037), particularly in the Group I patients. In conclusion, some additional treatments were found to be safe and efficacious in high-risk PAPS pregnant women.