MFR - Artigos publicados em revistas indexadas
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- Nonsense mutation in TITF1 in a Portuguese family with benign hereditary choreaPublication . Costa, MC; Costa, C; Silva, A; Evangelista, P; Santos, L; Ferro, A; Sequeiros, J; Maciel, PBenign hereditary chorea (BHC) is an autosomaldominant disorder of early onset characterized by a slowly progressing or nonprogressing chorea, without cognitive decline or other progressive neurologic dysfunction, but also by the existence of heterogeneity of the clinical presentation within and among families. The genetic cause of BHC is the presence of either point mutations or deletions in the thyroid transcription factor 1 gene (TITF1). We studied a Portuguese BHC family composed of two probands: a mother and her only son. The patients were identified in a neurology out-patient clinic showing mainly involuntary choreiform movements since childhood, myoclonic jerks, falls, and dysarthria. We performed magnetic resonance imaging (MRI), electroencephalogram (EEG), nerve conduction studies, thyroid ultrasound scan, biochemical thyroid tests, and electrocardiogram (ECG). We excluded Huntington disease by appropriate genetic testing and sequenced the entire TITF1 gene for both patients. The patients showed MRI alterations: (1) in the mother, abnormal hyperintense pallida and cortical cerebral/cerebellar atrophy; and (2) in the son, small hyperintense foci in the cerebellum and subtle enlargement of the fourth ventricle. Sequence analysis of the TITF1 gene in these patients revealed the presence of a heterozygous C > T substitution at nucleotide 745, leading to the replacement of a glutamine at position 249 for a premature stop codon. A previously undescribed nonsense mutation in the TITF1 gene was identified as being the genetic cause of BHC in this family.
- Congenital ocular motor apraxiaPublication . Carrasquinho, S; Teixeira, S; Cadete, A; Bernardo, M; Pêgo, P; Prieto, IPURPOSE: Congenital ocular motor apraxia is a rare disease characterized by defective or absent voluntary and optically induced horizontal saccadic movements. Jerky head movements or thrusts on attempted lateral gaze are a compensatory sign. Most affected children have delayed motor and speech development. Cases associated with systemic diseases, neurologic maldevelopment, metabolic deficits, and chromosomal abnormalities have been described. METHODS: Case report and review of the scientific literature. RESULTS: The authors describe the ophthalmologic, pediatric, and neurologic evaluations and follow up of a child with impaired horizontal saccades, jerky head movements, and delayed motor and speech development. CONCLUSIONS: Congenital ocular motor apraxia is an uncommon disorder of ocular motility. Even so, ophthalmologists should be aware of the developmental delay and the other associated conditions, in order to grant the patients the multidisciplinary assistance they often require.
- Nutritive sucking pattern from very low birth weight preterm to term newbornPublication . Cunha, M; Barreiros, J; Gonçalves, I; Figueiredo, HThe contribution of maturation and stimulation to the development of oral feeding was investigated, with two main objectives: (1) to analyze the nutritive sucking pattern of very-low-birth-weight newborns from their first oral feeding to the acquisition of independent oral feeding, and (2) to compare the nutritive sucking patterns of these babies, after feeding autonomy, with healthy term newborns. METHODS: Two groups were considered for analysis. Group 1: N=15 Very-Low-Birth-Weight (VLBW), gestacional age (GA)=28.15+/-1.5, birth weight (BW)=1178.3+/-174.4. The intervention program began at 30.19+/-1.52 weeks GA. Group 2: N=25 term newborns, healthy, GA=39.04+/-1.2, BW=3370.42+/-310.76. Repeated measures of the following variables were taken (weekly for group 1): suction efficacy (SEF), rhythm of milk transfer (RMT), suctions, bursts and pauses. Group 2 was analysed only once between the 2nd and 5th day of life. RESULTS: Group 1 has revealed a minimal suction number at 32 GA weeks (82+/-77.6) and maximal suction number at 36-37 GA weeks (162.7+/-60.7). The number of sucks seemed to be dependent of weight (p=0.005), duration of intervention (p=0.001) and chronological age (p=0.000). Significant statistical effects of gestational age were not observed (p=0.904). Sucks in bursts represented 77% at the beginning of oral feeding (32 weeks GA), and 96% at 33 weeks GA, remaining constant thereafter. The number of sucks and bursts increased with GA and weeks of feeding. The mean duration of the pauses decreased from first to fourth week of feeding (week1=14.1+/-9.1 and week4=6.4+/-1.4 s). The sucking efficacy (SEF) was better explained by weight (p=0.000), number of sucks in 5 min (p=0.025) and chronological age (p=0.044). Gestational age (p=0.051) and nutritive intervention duration (NDI) (p=0.110) did not contribute to explain SEF. Despite the observation of significant statistical differences between groups regarding GA (35.9/39.08; p=0.00), chronological age (53.3/2.5; p=0.00) and weight (1875/3360; p=0.00), the nutritive suction pattern was not statistically different between groups after feeding autonomy. CONCLUSION: in VLBW oral feeding before 32 weeks GA allows the attainment of a mature nutritive suction pattern before term (37-40 weeks). Experience seems to be one of the influencing factors in the change of the nutritive suction pattern.
- Rehabilitation approach after surgical repair of spontaneous bilateral quadriceps tendon rupture in a healthy mason - a case report.Publication . Portugal, M; Capelo, J; Martins, B; Ribeiro, I; Ataíde, S; Vera-Cruz, CQuadriceps tendon rupture is a rare lesion, occurring most frequently in males over 60 years following a fall or trauma and associated with systemic diseases and risk factors. Bilateral injury is even more uncommon and disabling. The authors report a case of spontaneous bilateral quadriceps tendon rupture, non-simultaneous (8 days apart), in a healthy 54-year-old Black male mason, that may be work-related. The patient was included in a 6-month rehabilitation program after surgical repair. Pain control and gait reacquisition were particularly difficult. Following the customized and phased rehabilitation program, the patient achieved the 6-month functional outcomes reported for unilateral rupture. The authors highlight the rehabilitation specificities and challenges of the bilateral lesion and discuss the pathophysiological role of prolonged periods of working in repetitive quadriceps overuse postures on quadriceps tendon rupture.
- Contralateral Upper Limb Weakness Following Botulinum Toxin A Injection for Poststroke SpasticityPublication . Camões-Barbosa, A; Ribeiro, I; Medeiros, LBotulinum toxin type A has been approved for spasticity management in poststroke patients. The adverse effects are generally of two types: those related to local injection; and those related to the systemic effects from spread of the toxin. Contralateral weakness after botulinum toxin A treatment is a rarely reported adverse effect. We report the case of a 33-year-old female who had been receiving regular injections of incobotulinum toxin A due to spasticity of the right limbs after a hemorrhagic stroke. A switch was made to abobotulinum toxin A with an overall conversion ratio of 1:3.83. The patient presented contralateral upper limb paresis, especially of the deltoid muscle, in the second week post-injection. The electroneuromyography showed neuromuscular block due to botulinum toxin A. She recovered completely after eight months. A switch between different formulations of botulinum toxin type A should prompt caution when carrying out unit conversions. Distant side effects may appear, including paresis in the contralateral limbs.