Browsing by Author "Carmona, Carla"
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- Desenvolvimento Neuropsicológico na Síndrome de X-Frágil: interpretar os perfis de desenvolvimento.Publication . Carmona, Carla; Marques, Isabel; Santos, Rosário; Jorge, PaulaIntrodução: A Síndrome de X Frágil (SXF) é uma doença genética causada por uma mutação dinâmica da região repetitiva constituída por tripletos CGG no gene FMR1, que leva à ausência da FMRP. Na população normal o número de CGGs oscila entre os 5 e os 45. A maioria dos doentes com SXF apresenta para além da expansão > 200 CGG, uma inativação do gene FMR1 por metilação do seu promotor (mutação completa). A principal manifestação da SXF é o atraso mental ou défice intelectual que varia de ligeiro a grave. Outros sinais incluem o atraso de desenvolvimento psicomotor, alterações de comportamento, a hiperatividade, o défice de atenção, dificuldades de aprendizagem e comportamento autista. Objetivo e métodos: Existe um grupo de doentes, menos comum, que revela ausência (total ou parcial) de metilação do FMR1 e níveis reduzidos da FMRP, denominados high-functioning males (HFM). Um outro conjunto engloba doentes, designados mosaicos (MoPMMC), que para além da mutação completa apresentam, em algumas células, um número de repetições inferior aos 200 (pré-mutação). Estes subgrupos são, sob o ponto de vista investigacional, particularmente interessantes pois apresentam características fenotípicas e genéticas imprevisíveis. O objetivo deste trabalho é analisar e comparar os níveis de desenvolvimento neuropsicológico, avaliados a partir da escala de desenvolvimento psicomotor e o perfil cognitivo, avaliado com as escalas de inteligência, de portadores da SXF e MoPMMC, de ambos os sexos. Resultados e Discussão: A análise detalhada dos perfis dos testes permite compreender a forma como as diferentes mutações podem influenciar no desenvolvimento psicomotor e cognitivo das crianças com SXF. Esta investigação neurogenética terá um importante impacto na seleção de uma futura aproximação terapêutica, no funcionamento e na qualidade de vida destes indivíduos, bem como ajudar reduzir os encargos para as famílias, seus cuidadores e a sociedade.
- Developmental follow-up of 90 adolescents and adult PKU patients: results and challenges of a multidisciplinary approachPublication . Carmona, CarlaIntroduction: Severe neurological disability caused by Phenylketonuria (PKU) can largely be prevented by a strict reduced phenylalanine (Phe) diet started in the neonatal period. However, the deficits observed in specific domains of school performance and a specific profile in intellectual quotient tests (IQ) seemed to suggest a degree of neurobiological impairment. In fact, early-treated PKU patients are, in some cases, referred as having a slight decrease in IQ coupled with impairments in specific aspects of cognition, including specific deficits in executive function. The main purposes of this study was to characterize our adolescent and adult PKU patients and understand the way they adapt to this chronic condition at different ages and in the different contexts of life. Methods: We studied 90 patients aged 12 – 31 years. We considered the quality of dietetic control (the annual medians of Phe) as independent variables. The treatment outcome was evaluated considering IQ as a global value, the subtest profile in IQ tests, the level of school education attained and their professional career. Results: Although their global IQ levels are in the normal range, we found a profile of cognitive and behavioural difficulties. These difficulties condition the level of studies attained and their professional careers, suggesting the need special multidisciplinary supervision through life.
- O seguimento de uma doença Crónica: a FenilcetonúriaPublication . Carmona, CarlaO seguimento de uma doença crónica por uma equipa multidisciplinar: caracterização do desenvolvimento neurocognitivo e socio-emocional.
- The use of prealbumin concentration as a biomarker of nutritional status in treated phenylketonuric patientsPublication . Rocha, Júlio César; Almeida, Manuela Ferreira; Carmona, Carla; Cardoso, Maria Luís; Borges, Nuno; Soares, Isabel; Salcedo, Graça; Lima, Margarida Reis; Azevedo, Isabel; Van Spronsen, Francjan J.BACKGROUND/AIMS: The neurological sequelae resulting from untreated phenylketonuria are diminished by the success of early introduced and continued dietary treatment. Nowadays, nutritional status is gaining importance in the follow-up of these patients. The aim of this work was to study the relevance of prealbumin concentration as biomarker of protein nutritional status of phenylketonuric patients. METHODS: We collected data from 69 phenylketonuric patients on food intake, blood prealbumin and blood phenylalanine concentrations. Protein insufficiency was defined as prealbumin z-scores below the 5th percentile of reference population. Additionally, we considered a prealbumin concentration of 20 mg/dl as a threshold level. RESULTS: Nine patients (13%) showed signs of protein insufficiency. When the threshold of 20 mg/dl for prealbumin was used, we found 38 patients (55%) with low prealbumin concentrations. CONCLUSION: A significant group presented signs of protein insufficiency either using prealbumin z-scores or prealbumin concentration threshold, especially in milder forms of the disease. The results of this seem to confirm the already described threshold level for prealbumin concentration, suggesting that its measurement may be important for nutritional status evaluation, preventing protein insufficiency in milder forms of phenylketonuria.
- Tyrosinemia type III: a case report of siblings and literature reviewPublication . Barroso, Fábio; Correia, Joana; Bandeira, Anabela; Carmona, Carla; Vilarinho, Laura; Almeida, Manuela; Rocha, Júlio César; Martins, EsmeraldaObjective: Tyrosinemia type III (HT III) is the rarest form of tyrosinemia, and the full clinical spectrum of this disorder is still unknown. The neurological involvement varies, including intellectual impairment and attention deficit disorder with hyperactivity (ADHD). We report the case of two siblings diagnosed with HT III at different ages. Case description: The index case was diagnosed by newborn screening for endocrine and metabolic disorders, starting a low-protein diet immediately, with a consistent decrease in tyrosine levels. By the age of three, the child displayed a hyperactive behavior, starting treatment for ADHD two years later. At seven years of age, he shows a slight improvement in terms of behavior and attention span and has a cognitive performance slightly lower than his peers, despite maintaining acceptable tyrosine levels. His sister, who had a history of ADHD since age five, was diagnosed with HT III after family screening at the age of eight. Despite initiating a dietetic treatment, her behavior did not improve, and she has a mild intellectual impairment. Comments: This is the first case report describing siblings with HT III who underwent nutritional treatment with a low-protein diet in different phases of life, with a better neurological and behavioral evaluation in the patient who started treatment earlier.