Browsing by Author "Martins, C."
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- EFEITO DO ENVELHECIMENTO CRONOLÓGICO NA FUNÇÃO PULMONAR: COMPARAÇÃO DA FUNÇÃO RESPIRATÓRIA ENTRE ADULTOS E IDOSOS SAUDÁVEISPublication . Ruivo, S.; Viana, P.; Martins, C.; Baeta, C.
- Hemangioma da pálpebra em recém-nascido pré-termoPublication . Martins, C.; Caldeira, T.; Ferreira, E.; Varandas, R.; Pinto, R.Os hemangiomas são os tumores benignos mais frequentes na infância e em especial nos recém-nascidos de pré-termo. Habitualmente aparecem nas primeiras semanas de vida e a fase proliferativa pode ser rápida. Geralmente regridem espontaneamente, mas dependendo da localização e do volume pode ser necessário o tratamento farmacológico e/ou cirúrgico. Os autores apresentam o caso clínico de um recém-nascido de pré-termo (28 semanas gestacionais) a quem ao oitavo dia de vida aparece um hemangioma plano da pálpebra superior direita. Ao longo do internamento assistiu-se a um rápido crescimento do mesmo com ptose total do olho. O risco de ambliopia levou à necessidade de intervenção terapêutica com corticoterapia sistémica e intra-lesional, tendo sido a resposta clínica favorável. Actualmente, aos 7 meses, a lactente apresenta um exame oftalmológico normal. O tratamento atempado foi essencial para a redução do hemangioma e do risco de ambliopia. ABSTRACT Haemangioma is the most frequent benign tumour in infancy, especially in premature neonates. It usually appears in the first weeks of life and may proliferate quickly. Normally it diminishes spontaneously but, depending on the location and the volume, pharmacological treatment or surgery may be necessary. The authors report a case of a premature neonate (28 gestational weeks) aged 8 days, presenting a plan haemangioma located in the superior right eyelid. During the hospital stay, we verified a rapid growth of the haemangioma with total ptosis. The risk of ambliopy imposed therapeutic intervention associated with systemic and intra-lesional corticotherapy, with good clinic response. At the aged of seven months, the infant has a normal ophthalmologic exam. The precocity of the treatment was essential to the reduction of the haemangioma and the risk of ambliopy.
- LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATIONPublication . Lopes, T.; Coelho, M.; Bordalo, D.; Bandeira, A.; Bandeira, A.; Vilarinho, L.; Fonseca, P.; Carvalho, S.; Martins, C.; Oliveira, J.Objective: Leigh syndrome is a neurodegenerative disorder with an incidence of 1:40,000 live births. It presents wide clinical, biochemical, and genetic heterogeneity, but with homogenous neuropatoradiological alterations. There is no specific treatment, and the prognosis is reserved. This case report aimed familiarize health professionals with the disease. Case Description: A 16-month-hold girl who was followed in outpatient clinic due to axial hypotonia and delayed psychomotor development. Karyotype, auditory evoked potentials and ophthalmologic evaluation were normal. Evidence of hyperlactacidemia and hypocitrullinemia was detected in the patient. After performing brain magnetic resonance under anesthesia, hypotonia got worse, and the patient was hospitalized after an episode of cyanosis and apnea. The electroencephalogram showed no epileptiform activity. Neuroimaging revealed bilateral lenticular hyperintensity, especially in the putamen and in the left globus pallidus regions. Molecular analysis revealed an 8993T>G (MT-ATP6) mutation in the mitochondrial DNA. Comments: Between 10 and 30% of individuals with Leigh syndrome have mitochondrial DNA mutations. The decompensation after anesthetic intercurrences is typically associated with neurological deterioration and, in this case, increased the diagnosis suspicion. It is important to alert for similar cases and to reduce invasive diagnostic tests if the diagnosis is suspected.
- Mediastinal Mass in a Patient with Colorectal Cancer: A Diagnostic ChallengePublication . Martins, C.; Sousa, P.; Araújo, T.; Castro-Poças, F.; Pedroto, I.The differential diagnosis of mediastinal masses involves many benign and malignant conditions, such as lymphadenopathies and cystic lesions. Metastatic mediastinal adenopathies are usually due to lung, esophagus, and stomach cancer and, rarely, due to colorectal cancer. Gastrointestinal duplication cysts are uncommon inherited lesions usually diagnosed during childhood and may involve the esophagus in 20% of cases. In adults, they are usually asymptomatic and diagnosed incidentally. We report the case of a 54-year-old male who recently underwent sigmoidectomy due to an obstructive colon adenocarcinoma. Staging computed tomography scan showed a hypodense lesion in the posterior mediastinum suggestive of metastatic adenopathy. Endoscopic ultrasound revealed a homogeneous and hypoechogenic lesion with intramural location in the upper esophagus, suggestive of a duplication esophageal cyst. Given the oncologic background and to exclude metastatic disease, endoscopic ultrasound-guided fine needle aspiration was performed, and a mucinous fluid was aspirated. The cytologic examination supported the ultrasonographic diagnostic hypothesis. This case highlights the role of endoscopic ultrasound in the differential diagnosis of mediastinal masses, particularly in oncologic patients, in order to rule out more ominous lesions.
- Osteomielite Aguda Neonatal - Localização RaraPublication . Martins, C.; Guedes, R.; Miranda, N.; Pinto, R.; Quintas, C.RESUMO A osteomielite aguda é uma situação rara no período neonatal. Esta infecção óssea é mais comum nos ossos longos, como o fémur e o úmero. Quanto à etiologia, o Staphylococcus aureus é o agente mais habitualmente implicado. Clinicamente manifesta-se sob a forma aguda de sépsis ou sob a forma insidiosa. O tratamento é normalmente conservador. Os autores apresentam o caso clínico de um recém-nascido (RN), fruto de gestação tripla, cujo parto ocorreu às trinta e uma semanas gestacionais e a quem é diagnosticado osteomielite aguda do ilíaco direito a Staphylococcus aureus. O elevado índice de suspeição para o diagnóstico é essencial, porque o início precoce de antibioterapia reduz a possibilidade de complicações e de lesões sequelares graves.
- Pseudoxantoma elástico - caso clínicoPublication . Martins, C.; Silva, V.; Leite, I.; Ferreira, E.; Romariz, J.Pseudoxantoma elástico é uma doença genética rara que se caracteriza pela progressiva calcificação e fragmentação das fibras elásticas da pele, retina e sistema cardiovascular. Os pacientes apresentam lesões cutâneas típicas e as manifestações extracutâneas aparecem posteriormente. O diagnóstico baseia-se na clínica, histologia e genética. Os autores apresentam o caso de um rapaz de 8 anos que refere aparecimento de pápulas alaranjadas, confluindo em placas de consistência elástica, de limites imprecisos, inicialmente limitadas à região cervical e estendendo-se posteriormente às regiões axilares. Realizou biopsia de pele que confirmou a suspeita clínica de pseudoxantoma elástico. Efectuou estudo analítico, electrocardiograma, ecocardiograma, eco-Doppler das carótidas e aorto-ilíacas, retinograma e potenciais evocados visuais que foram normais. Houve expansão das lesões para as regiões inguinais, não apresentando quaisquer queixas sistémicas. A raridade desta doença leva ao diagnóstico tardio. Sendo as complicações frequentes, é importante o diagnóstico atempado para instituir medidas profiláticas, evitando sequelas. ABSTRACT Pseudoxhantoma elasticum is a rare inherited disorder, characterised by a progressive mineralization and fragmentation of elastic fibres of the skin, retina and cardiovascular system. The skin exhibits distinctive lesions and extra-dermal manifestations appear in advanced age. The diagnosis relies on clinical manifestations, histology and genetic analysis. The authors present a case report of an eight year old boy complaining of orange papules in the lateral cervical regions and axilae, becoming later into elastic consistence plaques with irregular limits. The skin biopsy demonstrated pseudoxhantoma elasticum. Analytic study, electrocardiogram, echocardiogram, carotid and aortal-iliac eco-doppler, retinogram and evocated visual potentials were normal. There was expansion of cutaneous lesions to inguinal regions. The low prevalence of this disease may be the cause of a late diagnosis. The authors emphasize the importance of an early diagnosis to minimize the complications, which are common in these cases.
- Rare case of bilateral anterolateral and symmetrical bowing of tibia successfully treated with a distal tibial opening wedge osteotomyPublication . Miranda, M.; Afonso, C.; Martins, C.; Carvalho, J.; Campos, A.The anterolateral bowing of the tibia is closely associated with the development of its pseudarthrosis. Roughly, all deformities are unilateral so the shortening and angulation are easy to identify. We present a 6-year-old boy with an exuberant bilateral anterolateral bowing of tíbia. He has short stature, disturbed gait and callosity at the lateral border of the foot. Deformity was successfully treated by opening wedge tibia osteotomy and filled the remaining gap with structural fibular graft. It was fixed with two crossed K-wires and cast immobilization for 6 weeks. We decided to correct it before skeletal maturity due to the significant disturbance of the gait and esthetic impairment. It was obtained a satisfactory morphological and functional result with a simple and fast technique.
- The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature ReviewPublication . Lopes, F.; Torres, F.; Soares, G.; van Karnebeek, C.; Martins, C.; Antunes, D.; Silva, J.; Muttucomaroe, L.; Botelho, L.; Sousa, S.; Rendeiro, P.; Tavares, P.; Van Esch, H.; Rajcan-Separovic, E.; Maciel, P.Microdeletions at 1q43-q44 have been described as resulting in a clinically recognizable phenotype of intellectual disability (ID), facial dysmorphisms and microcephaly (MIC). In contrast, the reciprocal microduplications of 1q43-q44 region have been less frequently reported and patients showed a variable phenotype, including macrocephaly. Reports of a large number of patients with copy number variations involving this region highlighted the AKT3 gene as a likely key player in head size anomalies. We report four novel patients with copy number variations in the 1q43-q44 region: one with a larger deletion (3.7Mb), two with smaller deletions affecting AKT3 and SDCCAG8 genes (0.16 and 0.18Mb) and one with a quadruplication (1Mb) that affects the entire AKT3 gene. All patients with deletions presented MIC without structural brain abnormalities, whereas the patient with quadruplication had macrocephaly, but his carrier father had normal head circumference. Our report also includes a comparison of phenotypes in cases with 1q43-q44 duplications to assist future genotype-phenotype correlations. Our observations implicate AKT3 as a contributor to ID/development delay (DD) and head size but raise doubts about its straightforward impact on the latter aspect of the phenotype in patients with 1q43-q44 deletion/duplication syndrome.
- Type 2 Autoimmune Pancreatitis: A Challenge in the Differential Diagnosis of a Pancreatic MassPublication . Martins, C.; Lago, P.; Sousa, P.; Araújo, T.; Davide, J.; Castro-Poças, F.; Pedroto, I.Autoimmune pancreatitis is a rare entity of unknown etiology that can mimic pancreatic cancer and whose diagnosis involves clinical, serological, imagiological, and histological findings. There are two types of autoimmune pancreatitis: type 1, in which the pancreas is involved as one part of a systemic immunoglobulin G4-related disease, and type 2, generally without immunoglobulin G4-positive cells and without systemic involvement.