Jose Barros - Academia.edu (original) (raw)

Papers by Jose Barros

Research paper thumbnail of Internuclear ophthalmoplegia as a result of cerebral metastatic disease: Workup, pathophysiology, and clinical pearls

Indian Journal of Ophthalmology - Case Reports

This case demonstrates an acute case of internuclear ophthalmoplegia (INO) caused by cerebral met... more This case demonstrates an acute case of internuclear ophthalmoplegia (INO) caused by cerebral metastasis from a small cell lung cancer, the only such case documented in the literature. A 54-year-old male presented to the emergency department for worsening headache and diplopia, secondary to INO. On further examination, a CT scan of the chest revealed a 6.1 × 4.8 × 6.8 cm solid mass in the right lower lung consistent with small-cell lung cancer. T2-weighted MRI exhibited bilateral supratentorial and infratentorial lesions interpreted as metastatic cancer. The patient's symptoms, including INO, were caused by the mass effect from the metastatic brain lesions.

Research paper thumbnail of Satisfaction With Life Among Adolescents

The aims of this study were to determine the level of satisfaction with life among adolescents fr... more The aims of this study were to determine the level of satisfaction with life among adolescents from Portuguese immigrant families in Switzerland and the factors related thereto. The sample consisted of 93 participants (mean age = 16.1 years; SD = 1.4). The mean duration of sojourn in Switzerland was 7.2 years. A control group of 187 Portuguese youth was also included in the study. There were no significant differences in level of life satisfaction between Portuguese adolescents living in Portugal and those living in Switzerland. Whereas demographic factors accounted for only 8% of the variance explained, demographic and psychosocial factors accounted for 31% of the variance explained. Psychological symptoms were the most important predictor of life satisfaction. Behavioral problems, gender, and mastery were also found to be significant predictors of life satisfaction.

Research paper thumbnail of Autosomal Recessive Cerebellar Ataxia and Low Mitocondrial Complex III in a Portuguese Family

Research paper thumbnail of 4-48-08 Familial amyloid neuropathy (FAP-type I) in Portugal and Sweden: A more variable disease than the one first described

Journal of the Neurological Sciences, 1997

Research paper thumbnail of Application of a Methodology Based on Evolutionary Particle Swarm Optimization to Protection Coordination

This paper describes the application of a discrete Evolutionary Particle Swarm Optimization-based... more This paper describes the application of a discrete Evolutionary Particle Swarm Optimization-based (EPSO) methodology to a real case study network with high penetration of generation, for protection coordination. The high-resistance earth fault detection is based on the operation of a directional earth-fault overcurrent protection scheme with inverse time characteristic. The network is part of the HV Portuguese Distribution Network.

Research paper thumbnail of Das Doenças Humanas por Priões à COVID-19: 20 Anos de Sinapse

Research paper thumbnail of Anemia aplástica y embarazo

Revista Cientifica Salud Uninorte, Mar 5, 2012

Resumen Se presenta el caso de una paciente femenina de veintiún años de edad, la cual presentó c... more Resumen Se presenta el caso de una paciente femenina de veintiún años de edad, la cual presentó cuadro de quince días de evolución caracterizado por sangrado por genitales externos, que amerita ecografía transvaginal, evidenciándose aborto retenido que requiere legrado uterino instrumental. Persiste con el sangrado, el cual se asocia a pancitopenia, por lo que se decide aspirado medular, y se halla hipocelularidad. La anemia aplástica durante el embarazo es un evento raro, asociado a una alta morbilidad y mortalidad materna y fetal. Palabras claves: Anemia, anemia aplástica, embarazo, restos ovulares. Abstract There is presented the case of a feminine patient twenty one years old, which presents bled by external genitalia of fifteen (15) days of evolution, that deserved transvaginal ultrasound scan, where is demonstrated retained abortion, that makes necessary uterine curetage. She persists with the bled, which is associated to pancitopenia that’s why is decided bony marrow biopsia fundamentally being situated hipocelularidad. The aplastic anemia during pregnancy is a rare event associated with a high morbidity and mortality mother and foetal. Key words: Anemy, aplastic anemia, pregnancy, ovulary remains

Research paper thumbnail of Inquiry-based science education and continuous professional development within a European project: Some considerations about its development in Portugal

Research paper thumbnail of Factors Influencing Chinese Customers' Loyalty to Korean Medical and Tourism Services

Journal of Korean Academy of Nursing Administration, 2015

The purpose of this study was to identify factors related to the loyalty of Chinese customers who... more The purpose of this study was to identify factors related to the loyalty of Chinese customers who use Korean medical and tourism services. Methods: Participants were 158 Chinese who visited plastic surgery clinics in Korea. Data were analyzed using descriptive statistics, One-way ANOVA, Scheffé test, Pearson Correlation and Hierachical Multiple Regression. Results: Medical service quality, tourism service quality and medical and service satisfaction were positively correlated with customer loyalty. Medical service quality and medical and tourism service satisfaction had significant influence on customer loyalty. The explained variance for customer loyalty was 84.9%. Conclusion: These results suggest the need to improve the tourism service and medical and tourism service satisfaction to retain loyal customers.

Research paper thumbnail of CIA – Color in Action: Can You See It?

This stand is about the materials produced during the application of a PROFILES module in a Portu... more This stand is about the materials produced during the application of a PROFILES module in a Portuguese school to students between 12 and 15 years old. The module includes a teacher’s guide, educational materials, and instructions to build a color box. It is recognized that it is very important to apply a pre-test and post-test to know student’s misconceptions about this topic and their evolution. The materials can be acquired easily and at low cost. Variations can be made to improve the color box, or a degree of freedom can be given to students to enhance their creativity. It is intentional to use PhET’s simulation to understand, visualize the phenomena and guide student’s conclusions. (PROFILES Book 3, pp. 229-230: http://www.profiles-project.eu/Dissemination/PROFILES_Book/index.html)

Research paper thumbnail of Diagnóstico da Biodiversidade Econômica da Fazenda Jirau: Levantamento de Potencialidades

Publicações Avulsas em Conservação de Ecossistemas, 2007

A cidade compreendendo uma área de 1.194 km², tendo como limites ao norte o município de Morro Ca... more A cidade compreendendo uma área de 1.194 km², tendo como limites ao norte o município de Morro Cabeça no Tempo, ao sul o estado da Bahia, a leste, o estado da Bahia, e a oeste, os municípios de Curimatá e Júlio Borges (CPRM 2004). A sede municipal tem as coordenadas geográficas de 10°08'13" de latitude sul e 43°56'56" de longitude oeste de Greenwich, e dista cerca de 819 km da capital Teresina. O município foi criado pela Lei Nº 2.206 de 19/12/1961. A população total, segundo o Censo 2000 do IBGE, é de 9.625 habitantes e uma densidade demográfica de 8,06 hab/km², onde 46,82% das pessoas estão na zona rural. A Fazenda Jirau situa-se a 18 km da sede de Avelino Lopes, no sentido leste, Bairro Poço do Girau. Possui uma área de 6.000 ha, que bordeia o estado da Bahia (Figura 2).

Research paper thumbnail of Aplastic anemia and pregnancy

Taiwan yi xue hui za zhi. Journal of the Formosan Medical Association, 1984

Se presenta el caso de una paciente femenina de veintiún años de edad, la cual presentó cuadro de... more Se presenta el caso de una paciente femenina de veintiún años de edad, la cual presentó cuadro de quince días de evolución caracterizado por sangrado por genitales externos, que amerita ecografía transvaginal, evidenciándose aborto retenido que requiere legrado uterino instrumental. Persiste con el sangrado, el cual se asocia a pancitopenia, por lo que se decide aspirado medular, y se halla hipocelularidad. La anemia aplástica durante el embarazo es un evento raro, asociado a una alta morbilidad y mortalidad materna y fetal.

Research paper thumbnail of Evolutionary algorithm EPSO helping doubly-fed induction generators in ride-through-fault

2009 IEEE Bucharest PowerTech: Innovative Ideas Toward the Electrical Grid of the Future, 2009

A tuning process of the PI (Proportional-Integral) controller gains of a doubly-fed induction gen... more A tuning process of the PI (Proportional-Integral) controller gains of a doubly-fed induction generator's (DFIG) rotor side converter is described in this work. The purpose is to tune PI controllers to help the DFIG to survive to network faults, avoiding being tripped-off by under-voltage relays. The ride-through-fault capability of DFIGs improves system reliability and allows them to participate in the control and stabilization of a power system following system disturbances. The robust tuning of the DFIG rotor side converter's PI controllers may avoid undesired disconnections from the grid by, for instance, preventing over-currents in its variable frequency AC/DC/AC converter. This work presents an Evolutionary Particle Swarm Optimization-based (EPSO) approach to this tuning, with the aim of helping to limit the line-to-line voltage dip at the DFIG's terminals after a short-circuit, in order to avoid its tripping-off. The EPSO-based algorithm developed is validated at a typical Portuguese 15 kV Distribution Network with the integration of a DFIG, using the transient electromagnetic software package PSCAD/EMTDC™.

Research paper thumbnail of Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study

JAMA neurology, 2013

Epidemiological data on hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP... more Epidemiological data on hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP) are scarce. To present the prevalence and distribution of HCA and HSP in Portugal. Population-based, nationwide, systematic survey, from January 1, 1994, through April 15, 2004, in Portugal. Multiple sources of information were used (review of clinical files, active collaboration of neurologists and geneticists, and investigation of affected families), but the main source was active collaboration of general practitioners. Patients were examined by the same team of neurologists, using homogeneous inclusion criteria. The clinical data were registered, and all families were genetically tested. Overall, 1336 patients from a population of 10,322 million were diagnosed as having HCA or HSP, a prevalence of 12.9 per 100,000 population. Hereditary cerebellar ataxia was more prevalent (prevalence, 8.9 per 100,000 population; 5.6 for dominant and 3.3 for recessive ataxias) than HSP (prevalence, ...

Research paper thumbnail of Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

neurogenetics, 2013

Complex III of the mitochondrial respiratory chain (CIII) catalyzes transfer of electrons from re... more Complex III of the mitochondrial respiratory chain (CIII) catalyzes transfer of electrons from reduced coenzyme Q to cytochrome c. Low biochemical activity of CIII is not a frequent etiology in disorders of oxidative metabolism and is genetically heterogeneous. Recently, mutations in the human tetratricopeptide 19 gene (TTC19) have been involved in the etiology of CIII deficiency through impaired assembly of the holocomplex. We investigated a consanguineous Portuguese family where four siblings had reduced enzymatic activity of CIII in muscle and harbored a novel homozygous mutation in TTC19. The clinical phenotype in the four sibs was consistent with severe olivo-ponto-cerebellar atrophy, although their age at onset differed slightly. Interestingly, three patients also presented progressive psychosis. The mutation resulted in almost complete absence of TTC19 protein, defective assembly of CIII in muscle, and enhanced production of reactive oxygen species in cultured skin fibroblasts. Our findings add to the array of mutations in TTC19, corroborate the notion of genotype/phenotype variability in mitochondrial encephalomyopathies even within a single family, and indicate that psychiatric manifestations are a further presentation of low CIII.

Research paper thumbnail of 3-36-01 Hereditary ataxias and spastic paraplegia: A prevalence study in Portugal

Journal of the Neurological Sciences, 1997

Neuroepidemiology increase in power at slower test speed was showed in all subjects for both maxi... more Neuroepidemiology increase in power at slower test speed was showed in all subjects for both maximal knee extension and flexion. (4) A slight headache was showed in two patients as a side effect while administering DS. Conclusions: The improvement of ADL was demonstrated by administering DS to the patients of DM, which was accompanied by not only the reduction of myotonia but also the increase of muscular strength, and DS administration suggested a effective treatment method.

Research paper thumbnail of 1-29-07 Autosomal dominant ataxias in Portugal: Review of 106 families

Journal of the Neurological Sciences, 1997

Research paper thumbnail of Learning Pattern Recognition Through Quasi-Synchronization of Phase Oscillators

IEEE Transactions on Neural Networks, 2011

The idea that synchronized oscillations are important in cognitive tasks is receiving significant... more The idea that synchronized oscillations are important in cognitive tasks is receiving significant attention. In this view, single neurons are no longer elementary computational units. Rather, coherent oscillating groups of neurons are seen as nodes of networks performing cognitive tasks. From this assumption, we develop a model of stimulus-pattern learning and recognition. The three most salient features of our model are: 1) a new definition of synchronization; 2) demonstrated robustness in the presence of noise; and 3) pattern learning.

Research paper thumbnail of Equivalence of the Arbiter, the Synchronizer, the Latch, and the Inertial Delay

IEEE Transactions on Computers, 1983

An axiomatic method for proving correctness properties about digital circuit implementations unde... more An axiomatic method for proving correctness properties about digital circuit implementations under the influence of asynchronous inputs is presented. This method, termed hardware correctness, is used to prove properties about a target digital circuit that is implemented in terms of constituent digital circuits. The proof consists of deducing theorems about properties of the target circuit .from known properties of the constituent circuits. Three types of properties are considered, and they are expressed as axioms in firstorder predicate calculus. The axioms describe ideal behavior of the four most commonly studied asynchronous circuits, the inertial delay, the synchronizer, the time-bounded arbiter, and the latch. These axioms are derived from the less precise behavioral descriptions used by other investigators. The proof method is demonstrated by proving the implementational equivalence of the ideal models of the inertial delay and the latch. The method was used to show the implementational equivalence of all four of the ideal circuits named above. Signals are assumed to be continuous functions of time defined over a ternary domain, and no behavioral restrictions such as prohibition of double pulses or bandwidth limitations are placed on input signals.

Research paper thumbnail of A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients

European Journal of Neurology, 2010

BACKGROUND AND PURPOSE: Migraine is a common neurological disabling disorder, and anomalies of va... more BACKGROUND AND PURPOSE: Migraine is a common neurological disabling disorder, and anomalies of vascular function have been implied in its pathophysiology. Several findings point to a possible role of the endothelin receptor type A (EDNRA) in migraine. We aim to assess the involvement of endothelin receptor type A (EDNRA) in migraine susceptibility in a sample of Portuguese migraineurs. METHODS: Three tagging SNPs (rs702757, rs5333 and rs5335) were analysed in 188 cases-111 without aura (MO) and 77 with aura (MA)-and 287 controls. A multivariable logistic regression was performed, including the three SNPs, adjusted for gender. Allelic and haplotypic frequencies were compared between cases and controls. Significant or promising results were confirmed by a multifactor dimensionality reduction analysis (MDR).

Research paper thumbnail of Internuclear ophthalmoplegia as a result of cerebral metastatic disease: Workup, pathophysiology, and clinical pearls

Indian Journal of Ophthalmology - Case Reports

This case demonstrates an acute case of internuclear ophthalmoplegia (INO) caused by cerebral met... more This case demonstrates an acute case of internuclear ophthalmoplegia (INO) caused by cerebral metastasis from a small cell lung cancer, the only such case documented in the literature. A 54-year-old male presented to the emergency department for worsening headache and diplopia, secondary to INO. On further examination, a CT scan of the chest revealed a 6.1 × 4.8 × 6.8 cm solid mass in the right lower lung consistent with small-cell lung cancer. T2-weighted MRI exhibited bilateral supratentorial and infratentorial lesions interpreted as metastatic cancer. The patient's symptoms, including INO, were caused by the mass effect from the metastatic brain lesions.

Research paper thumbnail of Satisfaction With Life Among Adolescents

The aims of this study were to determine the level of satisfaction with life among adolescents fr... more The aims of this study were to determine the level of satisfaction with life among adolescents from Portuguese immigrant families in Switzerland and the factors related thereto. The sample consisted of 93 participants (mean age = 16.1 years; SD = 1.4). The mean duration of sojourn in Switzerland was 7.2 years. A control group of 187 Portuguese youth was also included in the study. There were no significant differences in level of life satisfaction between Portuguese adolescents living in Portugal and those living in Switzerland. Whereas demographic factors accounted for only 8% of the variance explained, demographic and psychosocial factors accounted for 31% of the variance explained. Psychological symptoms were the most important predictor of life satisfaction. Behavioral problems, gender, and mastery were also found to be significant predictors of life satisfaction.

Research paper thumbnail of Autosomal Recessive Cerebellar Ataxia and Low Mitocondrial Complex III in a Portuguese Family

Research paper thumbnail of 4-48-08 Familial amyloid neuropathy (FAP-type I) in Portugal and Sweden: A more variable disease than the one first described

Journal of the Neurological Sciences, 1997

Research paper thumbnail of Application of a Methodology Based on Evolutionary Particle Swarm Optimization to Protection Coordination

This paper describes the application of a discrete Evolutionary Particle Swarm Optimization-based... more This paper describes the application of a discrete Evolutionary Particle Swarm Optimization-based (EPSO) methodology to a real case study network with high penetration of generation, for protection coordination. The high-resistance earth fault detection is based on the operation of a directional earth-fault overcurrent protection scheme with inverse time characteristic. The network is part of the HV Portuguese Distribution Network.

Research paper thumbnail of Das Doenças Humanas por Priões à COVID-19: 20 Anos de Sinapse

Research paper thumbnail of Anemia aplástica y embarazo

Revista Cientifica Salud Uninorte, Mar 5, 2012

Resumen Se presenta el caso de una paciente femenina de veintiún años de edad, la cual presentó c... more Resumen Se presenta el caso de una paciente femenina de veintiún años de edad, la cual presentó cuadro de quince días de evolución caracterizado por sangrado por genitales externos, que amerita ecografía transvaginal, evidenciándose aborto retenido que requiere legrado uterino instrumental. Persiste con el sangrado, el cual se asocia a pancitopenia, por lo que se decide aspirado medular, y se halla hipocelularidad. La anemia aplástica durante el embarazo es un evento raro, asociado a una alta morbilidad y mortalidad materna y fetal. Palabras claves: Anemia, anemia aplástica, embarazo, restos ovulares. Abstract There is presented the case of a feminine patient twenty one years old, which presents bled by external genitalia of fifteen (15) days of evolution, that deserved transvaginal ultrasound scan, where is demonstrated retained abortion, that makes necessary uterine curetage. She persists with the bled, which is associated to pancitopenia that’s why is decided bony marrow biopsia fundamentally being situated hipocelularidad. The aplastic anemia during pregnancy is a rare event associated with a high morbidity and mortality mother and foetal. Key words: Anemy, aplastic anemia, pregnancy, ovulary remains

Research paper thumbnail of Inquiry-based science education and continuous professional development within a European project: Some considerations about its development in Portugal

Research paper thumbnail of Factors Influencing Chinese Customers' Loyalty to Korean Medical and Tourism Services

Journal of Korean Academy of Nursing Administration, 2015

The purpose of this study was to identify factors related to the loyalty of Chinese customers who... more The purpose of this study was to identify factors related to the loyalty of Chinese customers who use Korean medical and tourism services. Methods: Participants were 158 Chinese who visited plastic surgery clinics in Korea. Data were analyzed using descriptive statistics, One-way ANOVA, Scheffé test, Pearson Correlation and Hierachical Multiple Regression. Results: Medical service quality, tourism service quality and medical and service satisfaction were positively correlated with customer loyalty. Medical service quality and medical and tourism service satisfaction had significant influence on customer loyalty. The explained variance for customer loyalty was 84.9%. Conclusion: These results suggest the need to improve the tourism service and medical and tourism service satisfaction to retain loyal customers.

Research paper thumbnail of CIA – Color in Action: Can You See It?

This stand is about the materials produced during the application of a PROFILES module in a Portu... more This stand is about the materials produced during the application of a PROFILES module in a Portuguese school to students between 12 and 15 years old. The module includes a teacher’s guide, educational materials, and instructions to build a color box. It is recognized that it is very important to apply a pre-test and post-test to know student’s misconceptions about this topic and their evolution. The materials can be acquired easily and at low cost. Variations can be made to improve the color box, or a degree of freedom can be given to students to enhance their creativity. It is intentional to use PhET’s simulation to understand, visualize the phenomena and guide student’s conclusions. (PROFILES Book 3, pp. 229-230: http://www.profiles-project.eu/Dissemination/PROFILES_Book/index.html)

Research paper thumbnail of Diagnóstico da Biodiversidade Econômica da Fazenda Jirau: Levantamento de Potencialidades

Publicações Avulsas em Conservação de Ecossistemas, 2007

A cidade compreendendo uma área de 1.194 km², tendo como limites ao norte o município de Morro Ca... more A cidade compreendendo uma área de 1.194 km², tendo como limites ao norte o município de Morro Cabeça no Tempo, ao sul o estado da Bahia, a leste, o estado da Bahia, e a oeste, os municípios de Curimatá e Júlio Borges (CPRM 2004). A sede municipal tem as coordenadas geográficas de 10°08'13" de latitude sul e 43°56'56" de longitude oeste de Greenwich, e dista cerca de 819 km da capital Teresina. O município foi criado pela Lei Nº 2.206 de 19/12/1961. A população total, segundo o Censo 2000 do IBGE, é de 9.625 habitantes e uma densidade demográfica de 8,06 hab/km², onde 46,82% das pessoas estão na zona rural. A Fazenda Jirau situa-se a 18 km da sede de Avelino Lopes, no sentido leste, Bairro Poço do Girau. Possui uma área de 6.000 ha, que bordeia o estado da Bahia (Figura 2).

Research paper thumbnail of Aplastic anemia and pregnancy

Taiwan yi xue hui za zhi. Journal of the Formosan Medical Association, 1984

Se presenta el caso de una paciente femenina de veintiún años de edad, la cual presentó cuadro de... more Se presenta el caso de una paciente femenina de veintiún años de edad, la cual presentó cuadro de quince días de evolución caracterizado por sangrado por genitales externos, que amerita ecografía transvaginal, evidenciándose aborto retenido que requiere legrado uterino instrumental. Persiste con el sangrado, el cual se asocia a pancitopenia, por lo que se decide aspirado medular, y se halla hipocelularidad. La anemia aplástica durante el embarazo es un evento raro, asociado a una alta morbilidad y mortalidad materna y fetal.

Research paper thumbnail of Evolutionary algorithm EPSO helping doubly-fed induction generators in ride-through-fault

2009 IEEE Bucharest PowerTech: Innovative Ideas Toward the Electrical Grid of the Future, 2009

A tuning process of the PI (Proportional-Integral) controller gains of a doubly-fed induction gen... more A tuning process of the PI (Proportional-Integral) controller gains of a doubly-fed induction generator's (DFIG) rotor side converter is described in this work. The purpose is to tune PI controllers to help the DFIG to survive to network faults, avoiding being tripped-off by under-voltage relays. The ride-through-fault capability of DFIGs improves system reliability and allows them to participate in the control and stabilization of a power system following system disturbances. The robust tuning of the DFIG rotor side converter's PI controllers may avoid undesired disconnections from the grid by, for instance, preventing over-currents in its variable frequency AC/DC/AC converter. This work presents an Evolutionary Particle Swarm Optimization-based (EPSO) approach to this tuning, with the aim of helping to limit the line-to-line voltage dip at the DFIG's terminals after a short-circuit, in order to avoid its tripping-off. The EPSO-based algorithm developed is validated at a typical Portuguese 15 kV Distribution Network with the integration of a DFIG, using the transient electromagnetic software package PSCAD/EMTDC™.

Research paper thumbnail of Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study

JAMA neurology, 2013

Epidemiological data on hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP... more Epidemiological data on hereditary cerebellar ataxia (HCA) and hereditary spastic paraplegia (HSP) are scarce. To present the prevalence and distribution of HCA and HSP in Portugal. Population-based, nationwide, systematic survey, from January 1, 1994, through April 15, 2004, in Portugal. Multiple sources of information were used (review of clinical files, active collaboration of neurologists and geneticists, and investigation of affected families), but the main source was active collaboration of general practitioners. Patients were examined by the same team of neurologists, using homogeneous inclusion criteria. The clinical data were registered, and all families were genetically tested. Overall, 1336 patients from a population of 10,322 million were diagnosed as having HCA or HSP, a prevalence of 12.9 per 100,000 population. Hereditary cerebellar ataxia was more prevalent (prevalence, 8.9 per 100,000 population; 5.6 for dominant and 3.3 for recessive ataxias) than HSP (prevalence, ...

Research paper thumbnail of Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

neurogenetics, 2013

Complex III of the mitochondrial respiratory chain (CIII) catalyzes transfer of electrons from re... more Complex III of the mitochondrial respiratory chain (CIII) catalyzes transfer of electrons from reduced coenzyme Q to cytochrome c. Low biochemical activity of CIII is not a frequent etiology in disorders of oxidative metabolism and is genetically heterogeneous. Recently, mutations in the human tetratricopeptide 19 gene (TTC19) have been involved in the etiology of CIII deficiency through impaired assembly of the holocomplex. We investigated a consanguineous Portuguese family where four siblings had reduced enzymatic activity of CIII in muscle and harbored a novel homozygous mutation in TTC19. The clinical phenotype in the four sibs was consistent with severe olivo-ponto-cerebellar atrophy, although their age at onset differed slightly. Interestingly, three patients also presented progressive psychosis. The mutation resulted in almost complete absence of TTC19 protein, defective assembly of CIII in muscle, and enhanced production of reactive oxygen species in cultured skin fibroblasts. Our findings add to the array of mutations in TTC19, corroborate the notion of genotype/phenotype variability in mitochondrial encephalomyopathies even within a single family, and indicate that psychiatric manifestations are a further presentation of low CIII.

Research paper thumbnail of 3-36-01 Hereditary ataxias and spastic paraplegia: A prevalence study in Portugal

Journal of the Neurological Sciences, 1997

Neuroepidemiology increase in power at slower test speed was showed in all subjects for both maxi... more Neuroepidemiology increase in power at slower test speed was showed in all subjects for both maximal knee extension and flexion. (4) A slight headache was showed in two patients as a side effect while administering DS. Conclusions: The improvement of ADL was demonstrated by administering DS to the patients of DM, which was accompanied by not only the reduction of myotonia but also the increase of muscular strength, and DS administration suggested a effective treatment method.

Research paper thumbnail of 1-29-07 Autosomal dominant ataxias in Portugal: Review of 106 families

Journal of the Neurological Sciences, 1997

Research paper thumbnail of Learning Pattern Recognition Through Quasi-Synchronization of Phase Oscillators

IEEE Transactions on Neural Networks, 2011

The idea that synchronized oscillations are important in cognitive tasks is receiving significant... more The idea that synchronized oscillations are important in cognitive tasks is receiving significant attention. In this view, single neurons are no longer elementary computational units. Rather, coherent oscillating groups of neurons are seen as nodes of networks performing cognitive tasks. From this assumption, we develop a model of stimulus-pattern learning and recognition. The three most salient features of our model are: 1) a new definition of synchronization; 2) demonstrated robustness in the presence of noise; and 3) pattern learning.

Research paper thumbnail of Equivalence of the Arbiter, the Synchronizer, the Latch, and the Inertial Delay

IEEE Transactions on Computers, 1983

An axiomatic method for proving correctness properties about digital circuit implementations unde... more An axiomatic method for proving correctness properties about digital circuit implementations under the influence of asynchronous inputs is presented. This method, termed hardware correctness, is used to prove properties about a target digital circuit that is implemented in terms of constituent digital circuits. The proof consists of deducing theorems about properties of the target circuit .from known properties of the constituent circuits. Three types of properties are considered, and they are expressed as axioms in firstorder predicate calculus. The axioms describe ideal behavior of the four most commonly studied asynchronous circuits, the inertial delay, the synchronizer, the time-bounded arbiter, and the latch. These axioms are derived from the less precise behavioral descriptions used by other investigators. The proof method is demonstrated by proving the implementational equivalence of the ideal models of the inertial delay and the latch. The method was used to show the implementational equivalence of all four of the ideal circuits named above. Signals are assumed to be continuous functions of time defined over a ternary domain, and no behavioral restrictions such as prohibition of double pulses or bandwidth limitations are placed on input signals.

Research paper thumbnail of A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients

European Journal of Neurology, 2010

BACKGROUND AND PURPOSE: Migraine is a common neurological disabling disorder, and anomalies of va... more BACKGROUND AND PURPOSE: Migraine is a common neurological disabling disorder, and anomalies of vascular function have been implied in its pathophysiology. Several findings point to a possible role of the endothelin receptor type A (EDNRA) in migraine. We aim to assess the involvement of endothelin receptor type A (EDNRA) in migraine susceptibility in a sample of Portuguese migraineurs. METHODS: Three tagging SNPs (rs702757, rs5333 and rs5335) were analysed in 188 cases-111 without aura (MO) and 77 with aura (MA)-and 287 controls. A multivariable logistic regression was performed, including the three SNPs, adjusted for gender. Allelic and haplotypic frequencies were compared between cases and controls. Significant or promising results were confirmed by a multifactor dimensionality reduction analysis (MDR).