Hospital de Santa Maria
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Köhler disease: an infrequent or underdiagnosed cause of child's limping?
Get PDFKöhler disease (KD) is the osteochondrosis of the tarsal navicular bone of the young children, which is a self-limited condition. Typically the child reports pain with mechanical characteristics in the medial region of the foot, however, intermittent or continuous limping may be the only clinical manifestation, which delays the diagnosis and consequently exposes to unnecessary tests and treatments. We describe a bilateral KD whose clinical manifestation was unilateral limping with 4 months evolution. The radiologic evaluation showed flattening, sclerosis and irregular rarefaction of both navicular bones. Claudication persisted for four weeks, after which, the child remains asymptomatic.info:eu-repo/semantics/publishedVersio
Five-year review of an international clinical research-training program
No full textThe exponential increase in clinical research has profoundly changed medical sciences. Evidence that has accumulated in the past three decades from clinical trials has led to the proposal that clinical care should not be based solely on clinical expertise and patient values, and should integrate robust data from systematic research. As a consequence, clinical research has become more complex and methods have become more rigorous, and evidence is usually not easily translated into clinical practice. Therefore, the instruction of clinical research methods for scientists and clinicians must adapt to this new reality. To address this challenge, a global distance-learning clinical research-training program was developed, based on collaborative learning, the pedagogical goal of which was to develop critical thinking skills in clinical research. We describe and analyze the challenges and possible solutions of this course after 5 years of experience (2008-2012) with this program. Through evaluation by students and faculty, we identified and reviewed the following challenges of our program: 1) student engagement and motivation, 2) impact of heterogeneous audience on learning, 3) learning in large groups, 4) enhancing group learning, 5) enhancing social presence, 6) dropouts, 7) quality control, and 8) course management. We discuss these issues and potential alternatives with regard to our research and background
Contributo de fatores individuais, sociais e ambientais para a decisão de prosseguir uma gravidez não planeada na adolescência: Um estudo caracterizador da realidade portuguesa
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Subcutaneous Fat Necrosis Following Induced Hypothermia
No full textA necrose gorda do tecido celular subcutâneo do recém-nascido está associada a asfixia neonatal, aspiração de mecónio, convulsões ou hipotermia. A hipercalcemia é a complicação mais frequente, podendo em alguns casos ser grave e exigir terapêutica específica. Relata-se o caso de um recém-nascido de cesariana emergente por sofrimento fetal, tendo sido submetido a protocolo de hipotermia induzida. Foi diagnosticado com necrose gorda do recém-nascido ao 11º dia de internamento. No 23º dia identificou-se hipercalcemia, tendo iniciado terapêutica com pamidronato, com consequente diminuição gradual da calcemia. Sublinha-se a necessidade da identificação rápida de necrose gorda, possibilitando antecipar a hipercalcemia e iniciar terapêutica precoce
Influence of P53 on the radiotherapy response of hepatocellular carcinoma
No full textHepatocellular carcinoma (HCC) is one of the most common cancers worldwide, and it has a poor prognosis and few therapeutic options. Radiotherapy is one of the most effective forms of cancer treatment, and P53 protein is one of the key molecules determining how a cell responds to radiotherapy. The aim of this study was to determine the therapeutic efficacy of iodine-131 in three human HCC cell lines
Brooke-Spiegler Syndrome - an underrecognized cause of multiple familial scalp tumors: report of a new germline mutation
No full textBACKGROUND:
Brooke-Spiegler syndrome (BSS) is probably an underdiagnosed genodermatosis that predisposes for the development of cylindromas, spiradenomas and trichoepitheliomas mainly of the head and neck. Wide phenotypic variability regarding the number and type of lesions can be observed within a family. Mutations of the CYLD gene are identified in the vast majority of cases and play a key role in BSS pathogenesis.
MAIN OBSERVATIONS:
Two first degree relatives with numerous erythematous telangiectatic nodules of the scalp present for decades, with recurring tendency regardless the multiple previous excisions. Histopathological review of the lesions revealed predominantly "spiradenocylindromas" in the proband and cylindromas in her sister. The suspicion of BSS was confirmed after detection of a new nonsense germline mutation of CYLD (c.1783C>T pGln 595*) in the proband.
CONCLUSIONS:
BSS diagnosis can be challenging and is based on clinical-pathological correlation, positive familial association and identification of CYLD mutations. CYLD exerts antineoplastic effects by downregulating intracellular NF-κB signalling pathways. The reported mutation affecting the ubiquitin-specific protease domain leads to a truncated and catalytically inactive enzyme. Despite the expanding list of CYLD mutations no firm genotype-phenotype correlation is known so far. Early recognition and treatment of BSS avoid disfiguring changes like "turban tumor"
Induced liver injury after high-dose methylprednisolone in a patient with multiple sclerosis
No full textA 33-year-old woman with multiple sclerosis, medicated with high doses of methylprednisolone, cyclophosphamide and glatiramer acetate, was referred to our department due to acute liver injury. The laboratory investigation was normal except for weakly positive antinuclear antibodies. Cyclophosphamide and glatiramer acetate were suspended, and intravenous immunoglobulin with maintenance of high doses of methylprednisolone was initiated. The patient developed another episode of acute hepatitis so the immunoglobulin was stopped. After that, she had three more episodes of elevation of liver enzymes with no hepatic insufficiency while medicated only with high doses of methylprednisolone. At this time, liver biopsy showed focal centrilobubar hepatocyte necrosis with minimal interface hepatitis. After the high doses of methylprednisolone were suspended, the patient remained asymptomatic, with normal hepatic enzymes. This case emphasises that, although rare, induced liver injury after high doses of methylprednisolone can occur.info:eu-repo/semantics/publishedVersio
Biparietal variant of Alzheimer's disease: a rare presentation of a common disease
Get PDFAlzheimer's disease (AD) is a clinically heterogeneous disease that may have atypical presentations with focal cortical syndromes and relatively preserved episodic memory. The posterior variant of AD has two subtypes: occipitotemporal, presenting with visuoperceptive impairment, and biparietal, presenting with visuospatial dysfunction and apraxia. We report a case of a 51-year-old woman with progressive limb apraxia and choreiform movements. Her neuropsychological evaluation was compatible with dementia, and revealed ideomotor and ideational limb apraxia, severe visuoconstructive ability impairment, dyscalculia and posterior aphasia. Workup excluded metabolic, infectious, inflammatory or neoplastic causes, and hereditary conditions as Huntington's disease and familial AD. Cerebrospinal fluid biomarkers revealed β-amyloid reduction and τ protein increase. Brain imaging showed marked biparietal atrophy and hypoperfusion, and widespread cortical β-amyloid deposition. Biparietal variant of AD was diagnosed and acetylcholinesterase inhibitor treatment induced clinical stabilisation. AD may present with atypical features and a high clinical suspicion is necessary for an early diagnosis.info:eu-repo/semantics/publishedVersio