Browsing by Author "Almeida, S"
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- 48,XXYY in a general adult psychiatry departmentPublication . Santos, NB; Trancas, B; Pinto, P; Lopes, B; Gamito, A; Almeida, S; Ferreira, B; Luengo, A; Vieira, C; Martinho, J; Pereira, B; Cardoso, GThe 48,XXYY syndrome is a distinct clinical and genetic entity, with an incidence of 1:17,000 to 1:50,000 newborns. Patients often access mental healthcare services due to behavior problems, such as aggressiveness and impulsiveness, and are frequently intellectually disabled. We report a case of a patient with 48,XXYY syndrome treated in a general adult psychiatry department. A 23-year-old man was frequently admitted to our inpatient psychiatric unit (14 admissions in five years) due to disruptive behavior, including self harm, aggression to objects and animals, and fire-setting behavior, in a context of dysphoric mood and marked impulsivity. Upon observation, the patient had mild intellectual disability, with prominent impulsive and aggressive features and very low tolerance to frustration. His physical examination revealed hypertelorism, increased thickness of neck, acne, sparse body hair, triangular pubic hair distribution, fifth digit clinodactyly, small testicles and penis, and gynecoid pelvis. Laboratory analysis revealed endocrine abnormalities (low plasma testosterone and subclinical hypothyroidism). Cardiac Doppler sonogram was normal. Electroencephalogram revealed only a diffuse slowing electrogenesis, with no etiological specificity. Clinical suspicion of a chromosomal disorder was confirmed by a 48,XXYY karyotype. Subsequent magnetic resonance imaging detected discrete bilateral reduction of the hippocampal formations, possibly related to temporal dysgenesia. Psychopharmacological treatment options met moderate success, with lack of adherence. Other psychosocial treatment interventions ensued, including family therapy and psychoeducation. We underscore the need to be alert for chromosomal disorders, even in a general adult psychiatry department, as a minority of patients may reach adult care without proper diagnosis.
- Abordagem do síndrome hepatorrenal no doente críticoPublication . Gomes, F; Almeida, SO síndrome hepatorrenal é uma forma de lesão renal funcional num doente com evidência de doença hepática grave, com hipertensão portal. O diagnóstico é clínico e baseado em determinados critérios estabelecidos, sendo geralmente tardio, porque exige a exclusão de outras causas de disfunção renal. O tratamento ideal passa pela resolução parcial da doença primária ou do sucesso do transplante hepático, que permanece como terapêutica chave. Os vasoconstritores sistémicos e a albumina podem ser usados como ponte para o transplante ou como tratamento alternativo, caso o doente não seja candidato a transplante hepático. Os autores apresentam uma revisão da abordagem do síndrome hepatorrenal no doente crítico. A pesquisa bibliográfica foi realizada através de ferramentas eletrónicas de pesquisa avançada e não avançada da fonte de dados PubMed. Os artigos citados foram considerados os mais relevantes.
- Anemia perniciosa e tumor neuroendócrino gástricoPublication . Proença, L; Manso, RT; Leichsenring, C; Almeida, S; Santos, A; Louro, F
- Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders.Publication . Cruz, S; Taipa, R; Nogueira, C; Pereira, C; Almeida, S; Neiva, R; Geraldes, T; Guimarães, A; Melo-Pires, M; Vilarinho, LINTRODUCTION: Mitochondrial disorders display remarkable genetic and phenotypic heterogeneity. METHODS: We performed a retrospective analysis of the clinical, histological, biochemical, and genetic features of 65 patients with molecular diagnoses of mitochondrial disorders. RESULTS: The most common genetic diagnosis was a single large-scale mitochondrial DNA (mtDNA) deletion (41.5%), and the most frequent clinical phenotype was chronic progressive external ophthalmoplegia (CPEO). It occurred in 41.5% of all patients, primarily in those with mtDNA deletions. Histological signs of mitochondrial dysfunction were found in 73.8% of patients, and respiratory chain enzyme assay (RCEA) abnormalities were detected in 51.9%. CONCLUSIONS: This study confirms the high relative frequency of single large-scale deletions among mitochondrial disorders as well as its particular association with CPEO. Muscle histology seems to be particularly useful in older patients and those with mtDNA deletions, whereas RCEA might be more helpful in young children or individuals with mtDNA depletion
- Os estados mistos: cem anos depois de Emil KraepelinPublication . Almeida, S
- Grisel syndrome, acute otitis media, and temporo-mandibular reactive arthritis: a rare association.Publication . Martins, J; Almeida, S; Nunes, P; Prata, F; Lobo, ML; Marques, JWe present a case report of a four-year-old boy with torcicollis and trismus after acute otitis media. Grisel Syndrome diagnosis in association with temporo-mandibular reactive arthritis was admitted, leading to early conservative treatment. GS should be suspected in a child presenting with torticollis after an upper respiratory tract infection or an ENT surgical procedure. The association with temporo-mandibular reactive findings is somehow rarer but not impossible, due to the close vascular communication between retropharyngeal and pterigoid spaces.
- Hemorragia intra-pseudoquisto pancreático: apresentando-se como icterícia obstrutivaPublication . Rocha, C; Almeida, S; Leichsenring, C; Calado, J; Godinho, A; Carneiro, FApesar dos avanços no diagnóstico e manuseamento dos pseudoquistos pancreáticos, a incidência de hemorragia intra- -pseudoquisto é entre 6 a 17%. É apresentado um caso clinico de icterícia obstructiva resultante da compressão da via biliar por uma hemorragia intra-pseudoquisto pancreático após rotura de um pseudoaneurisma, diagnosticado por tomografia computorizada, o qual é de rara ocorrência. Pela estabilidade hemodinâmica do doente, a embolização vascular foi a opção terapêutica tendo resultado num tratamento definitivo sem complicações
- O insight nos doentes esquizofrénicos: instrumentos de avaliaçãoPublication . Almeida, S; Gamito, A; Maia, TÉ conhecido que os doentes esquizofrénicos apresentam um insight pobre relativamente à sua doença. Existem vários estudos que sugerem que este insight pobre está etiologicamente relacionado com os défices neuropsicológicos de esquizofrenia e que prediz a adesão ao tratamento e o prognóstico da doença a longo prazo. Os autores apresentam a adaptação portuguesa de duas escalas de avaliação do Insight: a SMUD e a ITAQ.
- Kraepelinian systematic paraphrenia as a recognizable disorderPublication . Borja-Santos, N; Trancas, B; Ferreira, B; Parente, J; Gamito, A; Almeida, S; Vieira, C; Luengo, A; Xavier, S; Klut, C; Graça, J; Ramos, J; Martins, M; Ribeiro, J; Neto, A; Palma, M; Luis, A; Cardoso, GObjectives: To demonstrate that systematic paraphrenia as defined by Kraepelin (the most consistent prototypic paraphrenia subtype) can be recognized and diagnosed. Subjects and methods: All patients admitted to a Portuguese psychiatric inpatient unit between September 2006 and October 2011, meeting the criteria for systematic paraphrenia based on Kraepelin’s definition, Munro’s operational criteria and the authors’ criteria, were evaluated by two senior psychiatrists. Results: Out of 27 evaluated patients, 16 (10 women and 6 men) were confirmed as having systematic paraphrenia, accounting for 0.83% of the total number of inpatients (1921). The mean age of onset was 34.3 years (SD = 8.9) and the mean duration of illness at observation was 19.5 years (SD = 12.3). Most (n = 13) had no family psychiatric history, were married (n = 11) before the onset of the disorder and none had previous sensorial deficit. Six were born outside of Portugal. Their academic achievements were only slightly inferior to the general population. Conclusions: Systematic paraphrenia can be recognized and diagnosed. Contrary to Kraepelin, the disorder seems to be more frequent in women. It does not seem to be associated with old age or heredity. This syndrome is internally consistent and its only similarity with schizophrenia is the positive symptoms’ dimension. It should also be distinguished from late paraphrenia.
- Manifestações Neuropsiquiátricas no Lupus Eritematoso Sistémico - A propósito de um caso clínicoPublication . Almeida, S; Luis, A; Gamito, A; Duarte, F; Dutschmann, L; Maia, TO Lupus Eritematoso Sistémico (LES) é uma doença auto-imune de etiologia desconhecida, que evolui por surtos. É caracterizada por períodos de relativa quiescência e outros de exacerbação e pode envolver vários órgãos ou sistemas: A propósito de uma mulher jovem com um quadro clínico de delirium, revêem-se os dados existentes na literatura sobre as manifestações neuro-psiquiátricas do LES.