Browsing by Author "Barroso, C"
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- Dominant and Recessive RYR1 Mutations in Adults with Core Lesions and Mild Muscle SymptomsPublication . Duarte, ST; Oliveira, J; Santos, R; Pereira, P; Barroso, C; Conceição, I; Evangelista, TINTRODUCTION: Ryanodine receptor gene (RYR1) mutations have been associated with central core disease (CCD), multiminicore/minicore/multicore disease (MmD), and susceptibility to malignant hyperthermia (MH). METHODS: Patients with muscle symptoms in adulthood, who had features compatible with CCD/MmD, underwent clinical, histological, and genetic (RYR1 and SEPN1 genes) evaluations. Published cases of CCD and MmD with adult onset were also reviewed. RESULTS: Eight patients fulfilled the criteria for further analysis. Five RYR1 mutations, 4 of them unreported, were detected in 3 patients. Compound heterozygosity was proven in 1 case. CONCLUSIONS: To our knowledge, this is the only report of adult onset associated with recessive RYR1 mutations and central core/multiminicores on muscle biopsy. Although adult patients with CCD, MmD, and minimally symptomatic MH with abnormal muscle biopsy findings usually have a mild clinical course, differential diagnosis and carrier screening is crucial for prevention of potentially life-threatening reactions to general anesthesia.
- Mononeuropatia Múltipla como Forma de Apresentação de SarcoidosePublication . Matias, G; Martins, J; Tavares, F; Barroso, C; Vale, J; Santos, L
- Neuromyelitis Optica Spectrum Disorders: a Nationwide Portuguese Clinical Epidemiological StudyPublication . Santos, E; Rocha, AL; Oliveira, V; Ferro, D; Samões, R; Sousa, AP; Figueiroa, S; Mendonça, T; Abreu, P; Guimarães, J; Sousa, R; Melo, C; Correia, I; Durães, J; Sousa, L; Ferreira, J; Sá, J; Sousa, F; Sequeira, M; Correia, AS; André, AL; Basílio, C; Arenga, M; Mendes, I; Brás Marques, I; Perdigão, S; Felgueiras, H; Alves, I; Correia, F; Barroso, C; Morganho, A; Carmona, C; Palavra, F; Santos, M; Salgado, V; Palos, A; Nzwalo, H; Timóteo, A; Guerreiro, R; Isidoro, L; Boleixa, D; Carneiro, P; Neves, E; Martins Silva, A; Gonçalves, G; Leite, MI; Sá, MJIntroduction: Neuromyelitis optica spectrum disorder (NMOSD) is a rare disorder in which astrocyte damage and/or demyelination often cause severe neurological deficits. Objective: To identify Portuguese patients with NMOSD and assess their epidemiological/clinical characteristics. Methods: This was a nationwide multicenter study. Twenty-four Portuguese adult and 3 neuropediatric centers following NMOSD patients were included. Results: A total of 180 patients met the 2015 Wingerchuk NMOSD criteria, 77 were AQP4-antibody positive (Abs+), 67 MOG-Abs+, and 36 seronegative. Point prevalence on December 31, 2018 was 1.71/100,000 for NMOSD, 0.71/100,000 for AQP4-Abs+, 0.65/100,000 for MOG-Abs+, and 0.35/100,000 for seronegative NMOSD. A total of 44 new NMOSD cases were identified during the two-year study period (11 AQP4-Abs+, 27 MOG-Abs+, and 6 seronegative). The annual incidence rate in that period was 0.21/100,000 person-years for NMOSD, 0.05/100,000 for AQP4-Abs+, 0.13/100,000 for MOG-Abs+, and 0.03/100,000 for seronegative NMOSD. AQP4-Abs+ predominated in females and was associated with autoimmune disorders. Frequently presented with myelitis. Area postrema syndrome was exclusive of this subtype, and associated with higher morbidity/mortality than other forms of NMOSD. MOG-Ab+ more often presented with optic neuritis, required less immunosuppression, and had better outcome. Conclusion: Epidemiological/clinical NMOSD profiles in the Portuguese population are similar to other European countries.
- Screening for Pompe Disease in a Portuguese High Risk PopulationPublication . Almeida, V; Conceição, I; Fineza, I; Coelho, T; Silveira, F; Santos, M; Valverde, A; Geraldo, A; Maré, R; Aguiar, TC; Mendonça, C; Martins, J; Medeiros, L; Barroso, C; Vieira, JP; Moreno, T; Negrão, L; Silva Dias, M; Lacerda, L; Evangelista, TPompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpatient clinics with proximal muscle weakness affecting upper and/or lower limbs, hyperCKemia in two or more determinations or hypotonia and hyperCKemia, were screened for acid α-glucosidase deficiency by dried blood spots. Lysosomal acid-alpha-1,4-glucosidase activity was determined by tandem mass spectrometry and positive results were confirmed by molecular study. From the 99 patients screened, Pompe disease was confirmed in 4, with age of onset ranging from 2.5 to 48 years, all with limb girdle muscle weakness, corresponding to a frequency of 4% in our cohort and 4.9% of limb girdle muscle weakness. Screening for Pompe disease in high risk populations, using dried blood spots, was already performed in some European populations. Apart from two negative Scandinavian studies, positive cases were confirmed in 2.8-7.9% of patients presenting with limb girdle muscle weakness and in 0-2.5% with isolated hyperCKemia.
- Ultrasound-Guided Dissection and Ligation of the Internal Inguinal Ring for Hernia Repair in Pediatrics: An Experimental Animal StudyPublication . Reino-Pires, P; Pêgo, JM; Miranda, A; Barroso, C; España, M; Correia-Pinto, JPURPOSE: We aimed to test the feasibility and reliability of ultrasound-guided percutaneous internal inguinal ring suture in rabbits, as a model for inguinal hernia repair in pediatric population. METHODS: Twenty-eight rabbits were divided in 2 groups: group I (female morphology) - persistence of the peritoneal-vaginal duct with gonads placed in intraperitoneal position; group II (male morphology) - persistence of the peritoneal-vaginal duct with gonads kept intact inside the duct. Under exclusive ultrasound-guided image we tried to perform a complete pre-peritoneal ligation of the peritoneal-vaginal duct at the level of the internal inguinal ring using a 20G peripheral IV catheter and 2-0 non-absorbable suture. Afterwards, an exploratory laparoscopy was performed to evaluate the ligation. RESULTS: Ultrasound allowed characterization of inguinal-crural structures. Group I - complete and reliable suture 66.7%, incomplete but reliable suture 16.7%, inappropriate ligation 16.7%; group II - complete but unreliable suture 76.9%, incomplete and unreliable suture 11.5%, inappropriate suture 11.5%. No acute complications were logged. Percutaneous dissection and ligation of internal inguinal ring through exclusive ultrasound guidance was feasible and likely reliable, namely for female inguinal hernia repair