Marta Tavares - Academia.edu (original) (raw)

Papers by Marta Tavares

Research paper thumbnail of Successful treatment with sirolimus of a patient with Blue Rubber Bleb Nevus syndrome

Journal of gastroenterology and hepatology, Jan 12, 2015

Blue Rubber Bleb Nevus syndrome is a very rare disease characterized by the presence of multiple ... more Blue Rubber Bleb Nevus syndrome is a very rare disease characterized by the presence of multiple cutaneous and vascular malformations of the digestive tract and is associated with chronic gastrointestinal bleeding that may be difficult to control. No curative therapy is currently available for this condition. The authors report a case of a male patient, 19 year-old, diagnosed with Blue Rubber Bleb Nevus syndrome at the age of 3 years. He underwent multiple therapies that included endoscopic ablation, multiple endoscopy-assisted surgical resections, oral and intravenous iron therapy and propranolol, with only temporary improvement, requiring frequent RBC-transfusions. Treatment with sirolimus was associated with resolution of gastrointestinal bleeding, without side effects after completing one year of treatment.

Research paper thumbnail of Congenital sucrase–isomaltase deficiency: A case report

GE Portuguese Journal of Gastroenterology, 2014

Research paper thumbnail of Modificação do tratamento com infliximab na doença de Crohn: experiência de um centro

GE Jornal Português de Gastrenterologia, 2014

ABSTRACT Introduction Treatment of Crohn disease in pediatric patients must ensure not only sympt... more ABSTRACT Introduction Treatment of Crohn disease in pediatric patients must ensure not only symptom control but also remission, allowing normal growth and development. Infliximab has been shown to be effective in controlling disease in children and adolescents unresponsive to first-line treatment, although 30 to 55% of failure occurs, requiring therapeutic adjustments. Recent pediatric studies have shown that the efficacy of reducing the range from 8 to 6/7 weeks, increasing the dose to 10 mg/kg dose or shortening the interval up to 4 weeks is similar. Objective and methods Retrospective descriptive study of pediatric patients who were diagnosed with Crohn Disease and had infliximab treatment in last five years, with evaluation of treatment failure situations. Results We included 16 patients (10 males, 6 females) treated with infliximab induction regimen, followed by 5 mg/kg every 8 weeks. In most patients, treatment was initiated 10 months after diagnosis. In 50% there was clinical and/or analytical relapse, on average after 10 cycles of treatment (median 6.5), leading to an adjustment of the therapeutic regimen: 6 shortened the interval to 6/7 weeks, 1 shortened the interval to 4 weeks and 1 increased the dose to 10 mg/kg. Of the 6 patients with 5 mg/kg dose and interval of 6/7 weeks, all had initial favorable response but 4 required an increase of the dose to 10 mg/kg, 2 of them are in remission. The disease remission with infliximab was 81.2%. Discussion Treatment with infliximab was effective in controlling Crohn disease and in reducing the need of steroids, but dose adjustments were necessary, often occurring in the first year of treatment. Clinical changes determined the need of dose or interval increases or reductions. The predictable need to adjust treatment after a few months of treatment justifies that the choice of biologic therapy in Crohn disease has to be carefully considered after failure of other options.

Research paper thumbnail of Critical technologies for the North of Portugal in 2015: the case of ITCE sectors information technologies, communication and electronics

International Journal of Foresight and Innovation Policy, 2007

The Commission for Coordination and Regional Development of the North of Portugal (CCDR-N) promot... more The Commission for Coordination and Regional Development of the North of Portugal (CCDR-N) promoted NORTINOV 2015, a project created to define a regional innovation strategy for the North of Portugal based on automotive clusters and Information Technology, Communication and Electronics (ITCE) clusters. Accordingly, it developed a technology forecast for the year 2015 in order to help the North of Portugal cope with the intensifying global competition and rapid technological changes. This paper describes the methodology used to identify critical technologies for the regional economy of the North of Portugal under the project NORTINOV 2015. It involved three main steps: technology identification and study, in which a list of emerging technologies was implemented; refinement of emerging technologies, in which 90 technologies were identified and finally, classification and hierarchisation of technologies, in which 30 technologies were identified as critical for the crafting of regional innovation strategy. In this final step, a workshop involving major stakeholders of the three clusters under study played a major role.

Research paper thumbnail of NOD2/CARD15 and TNFA, But Not ILLB and ILLRN, are Associated With Crohnʼs Disease

Inflammatory Bowel Diseases, 2005

Background: NOD2/CARD15 was described as the first susceptibility gene to Crohn's disease (CD). P... more Background: NOD2/CARD15 was described as the first susceptibility gene to Crohn's disease (CD). Polymorphisms in the TNFA gene and in the IL1 gene cluster, which are associated with an enhanced chronic inflammatory response, may also play a role in the development of CD. The aim of this study was to determine the association of polymorphisms in the CARD15, TNFA, IL1B, and IL1RN genes with risk of development of CD and with the clinicopathological profile of CD patients.

Research paper thumbnail of Tu1200 Impaired Remission in Pediatric CronhS Disease – Are Steroids to Blame?

Research paper thumbnail of Omalizumab in the treatment of eosinophilic esophagitis and food allergy

European Journal of Pediatrics, 2011

Omalizumab is currently used in severe asthma and has been tried in other allergic disorders. The... more Omalizumab is currently used in severe asthma and has been tried in other allergic disorders. The authors report two patients with multiple food allergies and eosinophilic esophagitis on a very restrictive diet who have been treated with omalizumab, in order to improve food intolerance--the major distressing factor in their lives. The patients significantly improved in the reported symptoms. However, no improvement was seen regarding esophageal endoscopy and histology. Given the poor histological and endoscopy response, eosinophilic esophagitis persistence is unlikely to be IgE dependent. Omalizumab may improve the quality of life of patients with severe food allergy by improving symptoms, but it does not appear to change endoscopic and histological features of eosinophilic esophagitis in a short follow-up.

Research paper thumbnail of Celiac disease in first degree relatives of celiac children

Arquivos de Gastroenterologia, 2012

Context -The first degree relatives of celiac patients represent a high risk group for the develo... more Context -The first degree relatives of celiac patients represent a high risk group for the development of this disorder, so their screening may be crucial in the prevention of long-term complications. Objective -In order to determine the prevalence of celiac disease in a group of first degree relatives of children with proven gluten intolerance, we conducted a prospective study that consisted in the screening of celiac disease, using a capillary immunoassay rapid test that allows a qualitative detection of IgA antibody to human recombinant tissue transglutaminase (IgA-TTG). Methods -When the screening test was positive subjects were advised to proceed with further investigation. The screening test was performed in 268 first degree relatives (143 mothers, 89 fathers, 36 siblings) corresponding to 163 children with celiac disease. Results -Screening test was positive in 12 relatives (4.5%), of which 1 refused to continue the investigation. In the remaining 11 relatives celiac disease was diagnosed in 7 cases (2.6%, 5 mothers, 2 fathers) who had a median age of 39 years (27-56 years), mild gastrointestinal symptoms, high titre of IgA-TTG and histology abnormalities confirming the diagnosis. All these patients are currently on a gluten-free diet. Conclusion -The prevalence of celiac disease among first degree relatives (2.6%) was 5 times higher than that in the general population. Although the recommendations for screening asymptomatic high risk groups, such as first degree relatives, are not unanimous the early diagnosis is crucial in preventing complications, including nutritional deficiency and cancer. HEADINGS -Celiac disease. Family. Child.

Research paper thumbnail of Doença Celíaca e Aleitamento Materno: Evidências Epidemiológicas

Revista de Alimentacao Humana

A Doença Celíaca (DC) é uma doença inflamatória intestinal cuja etiologia é multifactorial e aind... more A Doença Celíaca (DC) é uma doença inflamatória intestinal cuja etiologia é multifactorial e ainda não totalmente compreendida. De facto, além da conhecida associação da doença à exposição ao glúten, a importância da susceptibilidade genética é uma evidência crescente, embora muitos dos genes envolvidos estejam ainda por identificar. A tradução da doença no intestino delgado, como a atrofia vilositária e a consequente redução da superfície de absorção da mucosa, são estritamente dependentes da exposição ao glúten proveniente da alimentação. Contudo, outros factores ambientais podem influenciar a patogénese imuno-mediada subjacente à DC. O padrão alimentar na infância, a quantidade de glúten introduzido, os métodos de preparação dos alimentos e a presença concomitante do aleitamento materno parecem ter uma especial importância. É do interesse do Nutricionista estar informado sobre as mais recentes descobertas nesta área, a fim de oferecer o melhor aconselhamento possível na sua prática profissional.

Research paper thumbnail of Successful treatment with sirolimus of a patient with Blue Rubber Bleb Nevus syndrome

Journal of Gastroenterology and Hepatology, 2015

Blue Rubber Bleb Nevus syndrome is a very rare disease characterized by the presence of multiple ... more Blue Rubber Bleb Nevus syndrome is a very rare disease characterized by the presence of multiple cutaneous and vascular malformations of the digestive tract and is associated with chronic gastrointestinal bleeding that may be difficult to control. No curative therapy is currently available for this condition. The authors report a case of a male patient, 19 year-old, diagnosed with Blue Rubber Bleb Nevus syndrome at the age of 3 years. He underwent multiple therapies that included endoscopic ablation, multiple endoscopy-assisted surgical resections, oral and intravenous iron therapy and propranolol, with only temporary improvement, requiring frequent RBC-transfusions. Treatment with sirolimus was associated with resolution of gastrointestinal bleeding, without side effects after completing one year of treatment.

Research paper thumbnail of Congenital sucrase–isomaltase deficiency: A case report

GE Portuguese Journal of Gastroenterology, 2014

Research paper thumbnail of Modificação do tratamento com infliximab na doença de Crohn: experiência de um centro

GE Jornal Português de Gastrenterologia, 2014

ABSTRACT Introduction Treatment of Crohn disease in pediatric patients must ensure not only sympt... more ABSTRACT Introduction Treatment of Crohn disease in pediatric patients must ensure not only symptom control but also remission, allowing normal growth and development. Infliximab has been shown to be effective in controlling disease in children and adolescents unresponsive to first-line treatment, although 30 to 55% of failure occurs, requiring therapeutic adjustments. Recent pediatric studies have shown that the efficacy of reducing the range from 8 to 6/7 weeks, increasing the dose to 10 mg/kg dose or shortening the interval up to 4 weeks is similar. Objective and methods Retrospective descriptive study of pediatric patients who were diagnosed with Crohn Disease and had infliximab treatment in last five years, with evaluation of treatment failure situations. Results We included 16 patients (10 males, 6 females) treated with infliximab induction regimen, followed by 5 mg/kg every 8 weeks. In most patients, treatment was initiated 10 months after diagnosis. In 50% there was clinical and/or analytical relapse, on average after 10 cycles of treatment (median 6.5), leading to an adjustment of the therapeutic regimen: 6 shortened the interval to 6/7 weeks, 1 shortened the interval to 4 weeks and 1 increased the dose to 10 mg/kg. Of the 6 patients with 5 mg/kg dose and interval of 6/7 weeks, all had initial favorable response but 4 required an increase of the dose to 10 mg/kg, 2 of them are in remission. The disease remission with infliximab was 81.2%. Discussion Treatment with infliximab was effective in controlling Crohn disease and in reducing the need of steroids, but dose adjustments were necessary, often occurring in the first year of treatment. Clinical changes determined the need of dose or interval increases or reductions. The predictable need to adjust treatment after a few months of treatment justifies that the choice of biologic therapy in Crohn disease has to be carefully considered after failure of other options.

Research paper thumbnail of Prenatal diagnosis of abdominal enteric duplications

Prenatal Diagnosis, 2000

Alimentary tract duplications are rare congenital malformations with few reports of the antenatal... more Alimentary tract duplications are rare congenital malformations with few reports of the antenatal sonographic appearance. Early diagnosis is of paramount importance to prevent complications. We present a case of a cystic gastric duplication diagnosed antenatally at 31 weeks' gestation, which was treated successfully. Simultaneously, we review all published cases of prenatally diagnosed enteric duplications.

Research paper thumbnail of Meconium dependence of bowel damage in gastroschisis

Journal of Pediatric Surgery, 2002

Research paper thumbnail of A new fetal rat model of gastroschisis: Development and early characterization

Journal of Pediatric Surgery, 2001

Background/Purpose: The perinatal management and pathophysiology of gastroschisis remain controve... more Background/Purpose: The perinatal management and pathophysiology of gastroschisis remain controversial. Large animal experimental models of gastroschisis are inherently limited by expense and length of gestation, making multiple studies and statistical analysis difficult. To address these limitations the authors have developed a model of gastroschisis in the fetal rat.

Research paper thumbnail of Diagnosis of First Case of Balamuthia Amoebic Encephalitis in Portugal by Immunofluorescence and PCR

Journal of Clinical Microbiology, 2006

We report here the first Portuguese case of acute fatal granulomatous encephalitis attributed to ... more We report here the first Portuguese case of acute fatal granulomatous encephalitis attributed to Balamuthia mandrillaris, initially thought to be a brain tumor, which had a progressive and fatal outcome. Balamuthia mandrillaris is a free-living amoeba recognized as an uncommon agent of granulomatous encephalitis. Infections have been identified in immunocompromised hosts and in immunocompetent pediatric patients. Balamuthia infections are very rare, with only two reported cases in Europe. The case presented here occurred in a previously healthy boy who died 5 weeks after the onset of the symptoms. No evidence of immunological deficiency was noted, and testing for human immunodeficiency virus antibodies was negative. The symptoms were initially thought to be the result of a tumor, but histopathologic examination showed evidence of amoebic infection. Immunofluorescence staining of brain tissue identified B. mandrillaris as the infectious agent. The diagnosis was confirmed with PCR by detecting Balamuthia DNA in formalin-fixed brain tissue sections. Despite initiation of empirical antimicrobial therapy for balamuthiasis, the patient died 3 weeks after being admitted to the hospital. No source of infection was readily apparent.

Research paper thumbnail of NOD2/CARD15 and TNFA, But Not ILLB and ILLRN, are Associated With Crohnʼs Disease

Inflammatory Bowel Diseases, 2005

Results: We observed a significant association between CD and the CARD15 polymorphisms, with an o... more Results: We observed a significant association between CD and the CARD15 polymorphisms, with an odds ratio (OR) of 2.9 [95% confidence interval (CI), 1.9 to 4.6] for carriers of 1 variant allele and an OR of 11.8 (95% CI, 3.5 to 40.4) for carriers of 2 variant alleles. ...

Research paper thumbnail of Tu1200 Impaired Remission in Pediatric CronhS Disease – Are Steroids to Blame?

Research paper thumbnail of Omalizumab in the treatment of eosinophilic esophagitis and food allergy

European Journal of Pediatrics, 2011

Omalizumab is currently used in severe asthma and has been tried in other allergic disorders. The... more Omalizumab is currently used in severe asthma and has been tried in other allergic disorders. The authors report two patients with multiple food allergies and eosinophilic esophagitis on a very restrictive diet who have been treated with omalizumab, in order to improve food intolerance--the major distressing factor in their lives. The patients significantly improved in the reported symptoms. However, no improvement was seen regarding esophageal endoscopy and histology. Given the poor histological and endoscopy response, eosinophilic esophagitis persistence is unlikely to be IgE dependent. Omalizumab may improve the quality of life of patients with severe food allergy by improving symptoms, but it does not appear to change endoscopic and histological features of eosinophilic esophagitis in a short follow-up.

Research paper thumbnail of Celiac disease in first degree relatives of celiac children

Arquivos de Gastroenterologia, 2012

Context -The first degree relatives of celiac patients represent a high risk group for the develo... more Context -The first degree relatives of celiac patients represent a high risk group for the development of this disorder, so their screening may be crucial in the prevention of long-term complications. Objective -In order to determine the prevalence of celiac disease in a group of first degree relatives of children with proven gluten intolerance, we conducted a prospective study that consisted in the screening of celiac disease, using a capillary immunoassay rapid test that allows a qualitative detection of IgA antibody to human recombinant tissue transglutaminase (IgA-TTG). Methods -When the screening test was positive subjects were advised to proceed with further investigation. The screening test was performed in 268 first degree relatives (143 mothers, 89 fathers, 36 siblings) corresponding to 163 children with celiac disease. Results -Screening test was positive in 12 relatives (4.5%), of which 1 refused to continue the investigation. In the remaining 11 relatives celiac disease was diagnosed in 7 cases (2.6%, 5 mothers, 2 fathers) who had a median age of 39 years (27-56 years), mild gastrointestinal symptoms, high titre of IgA-TTG and histology abnormalities confirming the diagnosis. All these patients are currently on a gluten-free diet. Conclusion -The prevalence of celiac disease among first degree relatives (2.6%) was 5 times higher than that in the general population. Although the recommendations for screening asymptomatic high risk groups, such as first degree relatives, are not unanimous the early diagnosis is crucial in preventing complications, including nutritional deficiency and cancer. HEADINGS -Celiac disease. Family. Child.

Research paper thumbnail of Successful treatment with sirolimus of a patient with Blue Rubber Bleb Nevus syndrome

Journal of gastroenterology and hepatology, Jan 12, 2015

Blue Rubber Bleb Nevus syndrome is a very rare disease characterized by the presence of multiple ... more Blue Rubber Bleb Nevus syndrome is a very rare disease characterized by the presence of multiple cutaneous and vascular malformations of the digestive tract and is associated with chronic gastrointestinal bleeding that may be difficult to control. No curative therapy is currently available for this condition. The authors report a case of a male patient, 19 year-old, diagnosed with Blue Rubber Bleb Nevus syndrome at the age of 3 years. He underwent multiple therapies that included endoscopic ablation, multiple endoscopy-assisted surgical resections, oral and intravenous iron therapy and propranolol, with only temporary improvement, requiring frequent RBC-transfusions. Treatment with sirolimus was associated with resolution of gastrointestinal bleeding, without side effects after completing one year of treatment.

Research paper thumbnail of Congenital sucrase–isomaltase deficiency: A case report

GE Portuguese Journal of Gastroenterology, 2014

Research paper thumbnail of Modificação do tratamento com infliximab na doença de Crohn: experiência de um centro

GE Jornal Português de Gastrenterologia, 2014

ABSTRACT Introduction Treatment of Crohn disease in pediatric patients must ensure not only sympt... more ABSTRACT Introduction Treatment of Crohn disease in pediatric patients must ensure not only symptom control but also remission, allowing normal growth and development. Infliximab has been shown to be effective in controlling disease in children and adolescents unresponsive to first-line treatment, although 30 to 55% of failure occurs, requiring therapeutic adjustments. Recent pediatric studies have shown that the efficacy of reducing the range from 8 to 6/7 weeks, increasing the dose to 10 mg/kg dose or shortening the interval up to 4 weeks is similar. Objective and methods Retrospective descriptive study of pediatric patients who were diagnosed with Crohn Disease and had infliximab treatment in last five years, with evaluation of treatment failure situations. Results We included 16 patients (10 males, 6 females) treated with infliximab induction regimen, followed by 5 mg/kg every 8 weeks. In most patients, treatment was initiated 10 months after diagnosis. In 50% there was clinical and/or analytical relapse, on average after 10 cycles of treatment (median 6.5), leading to an adjustment of the therapeutic regimen: 6 shortened the interval to 6/7 weeks, 1 shortened the interval to 4 weeks and 1 increased the dose to 10 mg/kg. Of the 6 patients with 5 mg/kg dose and interval of 6/7 weeks, all had initial favorable response but 4 required an increase of the dose to 10 mg/kg, 2 of them are in remission. The disease remission with infliximab was 81.2%. Discussion Treatment with infliximab was effective in controlling Crohn disease and in reducing the need of steroids, but dose adjustments were necessary, often occurring in the first year of treatment. Clinical changes determined the need of dose or interval increases or reductions. The predictable need to adjust treatment after a few months of treatment justifies that the choice of biologic therapy in Crohn disease has to be carefully considered after failure of other options.

Research paper thumbnail of Critical technologies for the North of Portugal in 2015: the case of ITCE sectors information technologies, communication and electronics

International Journal of Foresight and Innovation Policy, 2007

The Commission for Coordination and Regional Development of the North of Portugal (CCDR-N) promot... more The Commission for Coordination and Regional Development of the North of Portugal (CCDR-N) promoted NORTINOV 2015, a project created to define a regional innovation strategy for the North of Portugal based on automotive clusters and Information Technology, Communication and Electronics (ITCE) clusters. Accordingly, it developed a technology forecast for the year 2015 in order to help the North of Portugal cope with the intensifying global competition and rapid technological changes. This paper describes the methodology used to identify critical technologies for the regional economy of the North of Portugal under the project NORTINOV 2015. It involved three main steps: technology identification and study, in which a list of emerging technologies was implemented; refinement of emerging technologies, in which 90 technologies were identified and finally, classification and hierarchisation of technologies, in which 30 technologies were identified as critical for the crafting of regional innovation strategy. In this final step, a workshop involving major stakeholders of the three clusters under study played a major role.

Research paper thumbnail of NOD2/CARD15 and TNFA, But Not ILLB and ILLRN, are Associated With Crohnʼs Disease

Inflammatory Bowel Diseases, 2005

Background: NOD2/CARD15 was described as the first susceptibility gene to Crohn's disease (CD). P... more Background: NOD2/CARD15 was described as the first susceptibility gene to Crohn's disease (CD). Polymorphisms in the TNFA gene and in the IL1 gene cluster, which are associated with an enhanced chronic inflammatory response, may also play a role in the development of CD. The aim of this study was to determine the association of polymorphisms in the CARD15, TNFA, IL1B, and IL1RN genes with risk of development of CD and with the clinicopathological profile of CD patients.

Research paper thumbnail of Tu1200 Impaired Remission in Pediatric CronhS Disease – Are Steroids to Blame?

Research paper thumbnail of Omalizumab in the treatment of eosinophilic esophagitis and food allergy

European Journal of Pediatrics, 2011

Omalizumab is currently used in severe asthma and has been tried in other allergic disorders. The... more Omalizumab is currently used in severe asthma and has been tried in other allergic disorders. The authors report two patients with multiple food allergies and eosinophilic esophagitis on a very restrictive diet who have been treated with omalizumab, in order to improve food intolerance--the major distressing factor in their lives. The patients significantly improved in the reported symptoms. However, no improvement was seen regarding esophageal endoscopy and histology. Given the poor histological and endoscopy response, eosinophilic esophagitis persistence is unlikely to be IgE dependent. Omalizumab may improve the quality of life of patients with severe food allergy by improving symptoms, but it does not appear to change endoscopic and histological features of eosinophilic esophagitis in a short follow-up.

Research paper thumbnail of Celiac disease in first degree relatives of celiac children

Arquivos de Gastroenterologia, 2012

Context -The first degree relatives of celiac patients represent a high risk group for the develo... more Context -The first degree relatives of celiac patients represent a high risk group for the development of this disorder, so their screening may be crucial in the prevention of long-term complications. Objective -In order to determine the prevalence of celiac disease in a group of first degree relatives of children with proven gluten intolerance, we conducted a prospective study that consisted in the screening of celiac disease, using a capillary immunoassay rapid test that allows a qualitative detection of IgA antibody to human recombinant tissue transglutaminase (IgA-TTG). Methods -When the screening test was positive subjects were advised to proceed with further investigation. The screening test was performed in 268 first degree relatives (143 mothers, 89 fathers, 36 siblings) corresponding to 163 children with celiac disease. Results -Screening test was positive in 12 relatives (4.5%), of which 1 refused to continue the investigation. In the remaining 11 relatives celiac disease was diagnosed in 7 cases (2.6%, 5 mothers, 2 fathers) who had a median age of 39 years (27-56 years), mild gastrointestinal symptoms, high titre of IgA-TTG and histology abnormalities confirming the diagnosis. All these patients are currently on a gluten-free diet. Conclusion -The prevalence of celiac disease among first degree relatives (2.6%) was 5 times higher than that in the general population. Although the recommendations for screening asymptomatic high risk groups, such as first degree relatives, are not unanimous the early diagnosis is crucial in preventing complications, including nutritional deficiency and cancer. HEADINGS -Celiac disease. Family. Child.

Research paper thumbnail of Doença Celíaca e Aleitamento Materno: Evidências Epidemiológicas

Revista de Alimentacao Humana

A Doença Celíaca (DC) é uma doença inflamatória intestinal cuja etiologia é multifactorial e aind... more A Doença Celíaca (DC) é uma doença inflamatória intestinal cuja etiologia é multifactorial e ainda não totalmente compreendida. De facto, além da conhecida associação da doença à exposição ao glúten, a importância da susceptibilidade genética é uma evidência crescente, embora muitos dos genes envolvidos estejam ainda por identificar. A tradução da doença no intestino delgado, como a atrofia vilositária e a consequente redução da superfície de absorção da mucosa, são estritamente dependentes da exposição ao glúten proveniente da alimentação. Contudo, outros factores ambientais podem influenciar a patogénese imuno-mediada subjacente à DC. O padrão alimentar na infância, a quantidade de glúten introduzido, os métodos de preparação dos alimentos e a presença concomitante do aleitamento materno parecem ter uma especial importância. É do interesse do Nutricionista estar informado sobre as mais recentes descobertas nesta área, a fim de oferecer o melhor aconselhamento possível na sua prática profissional.

Research paper thumbnail of Successful treatment with sirolimus of a patient with Blue Rubber Bleb Nevus syndrome

Journal of Gastroenterology and Hepatology, 2015

Blue Rubber Bleb Nevus syndrome is a very rare disease characterized by the presence of multiple ... more Blue Rubber Bleb Nevus syndrome is a very rare disease characterized by the presence of multiple cutaneous and vascular malformations of the digestive tract and is associated with chronic gastrointestinal bleeding that may be difficult to control. No curative therapy is currently available for this condition. The authors report a case of a male patient, 19 year-old, diagnosed with Blue Rubber Bleb Nevus syndrome at the age of 3 years. He underwent multiple therapies that included endoscopic ablation, multiple endoscopy-assisted surgical resections, oral and intravenous iron therapy and propranolol, with only temporary improvement, requiring frequent RBC-transfusions. Treatment with sirolimus was associated with resolution of gastrointestinal bleeding, without side effects after completing one year of treatment.

Research paper thumbnail of Congenital sucrase–isomaltase deficiency: A case report

GE Portuguese Journal of Gastroenterology, 2014

Research paper thumbnail of Modificação do tratamento com infliximab na doença de Crohn: experiência de um centro

GE Jornal Português de Gastrenterologia, 2014

ABSTRACT Introduction Treatment of Crohn disease in pediatric patients must ensure not only sympt... more ABSTRACT Introduction Treatment of Crohn disease in pediatric patients must ensure not only symptom control but also remission, allowing normal growth and development. Infliximab has been shown to be effective in controlling disease in children and adolescents unresponsive to first-line treatment, although 30 to 55% of failure occurs, requiring therapeutic adjustments. Recent pediatric studies have shown that the efficacy of reducing the range from 8 to 6/7 weeks, increasing the dose to 10 mg/kg dose or shortening the interval up to 4 weeks is similar. Objective and methods Retrospective descriptive study of pediatric patients who were diagnosed with Crohn Disease and had infliximab treatment in last five years, with evaluation of treatment failure situations. Results We included 16 patients (10 males, 6 females) treated with infliximab induction regimen, followed by 5 mg/kg every 8 weeks. In most patients, treatment was initiated 10 months after diagnosis. In 50% there was clinical and/or analytical relapse, on average after 10 cycles of treatment (median 6.5), leading to an adjustment of the therapeutic regimen: 6 shortened the interval to 6/7 weeks, 1 shortened the interval to 4 weeks and 1 increased the dose to 10 mg/kg. Of the 6 patients with 5 mg/kg dose and interval of 6/7 weeks, all had initial favorable response but 4 required an increase of the dose to 10 mg/kg, 2 of them are in remission. The disease remission with infliximab was 81.2%. Discussion Treatment with infliximab was effective in controlling Crohn disease and in reducing the need of steroids, but dose adjustments were necessary, often occurring in the first year of treatment. Clinical changes determined the need of dose or interval increases or reductions. The predictable need to adjust treatment after a few months of treatment justifies that the choice of biologic therapy in Crohn disease has to be carefully considered after failure of other options.

Research paper thumbnail of Prenatal diagnosis of abdominal enteric duplications

Prenatal Diagnosis, 2000

Alimentary tract duplications are rare congenital malformations with few reports of the antenatal... more Alimentary tract duplications are rare congenital malformations with few reports of the antenatal sonographic appearance. Early diagnosis is of paramount importance to prevent complications. We present a case of a cystic gastric duplication diagnosed antenatally at 31 weeks' gestation, which was treated successfully. Simultaneously, we review all published cases of prenatally diagnosed enteric duplications.

Research paper thumbnail of Meconium dependence of bowel damage in gastroschisis

Journal of Pediatric Surgery, 2002

Research paper thumbnail of A new fetal rat model of gastroschisis: Development and early characterization

Journal of Pediatric Surgery, 2001

Background/Purpose: The perinatal management and pathophysiology of gastroschisis remain controve... more Background/Purpose: The perinatal management and pathophysiology of gastroschisis remain controversial. Large animal experimental models of gastroschisis are inherently limited by expense and length of gestation, making multiple studies and statistical analysis difficult. To address these limitations the authors have developed a model of gastroschisis in the fetal rat.

Research paper thumbnail of Diagnosis of First Case of Balamuthia Amoebic Encephalitis in Portugal by Immunofluorescence and PCR

Journal of Clinical Microbiology, 2006

We report here the first Portuguese case of acute fatal granulomatous encephalitis attributed to ... more We report here the first Portuguese case of acute fatal granulomatous encephalitis attributed to Balamuthia mandrillaris, initially thought to be a brain tumor, which had a progressive and fatal outcome. Balamuthia mandrillaris is a free-living amoeba recognized as an uncommon agent of granulomatous encephalitis. Infections have been identified in immunocompromised hosts and in immunocompetent pediatric patients. Balamuthia infections are very rare, with only two reported cases in Europe. The case presented here occurred in a previously healthy boy who died 5 weeks after the onset of the symptoms. No evidence of immunological deficiency was noted, and testing for human immunodeficiency virus antibodies was negative. The symptoms were initially thought to be the result of a tumor, but histopathologic examination showed evidence of amoebic infection. Immunofluorescence staining of brain tissue identified B. mandrillaris as the infectious agent. The diagnosis was confirmed with PCR by detecting Balamuthia DNA in formalin-fixed brain tissue sections. Despite initiation of empirical antimicrobial therapy for balamuthiasis, the patient died 3 weeks after being admitted to the hospital. No source of infection was readily apparent.

Research paper thumbnail of NOD2/CARD15 and TNFA, But Not ILLB and ILLRN, are Associated With Crohnʼs Disease

Inflammatory Bowel Diseases, 2005

Results: We observed a significant association between CD and the CARD15 polymorphisms, with an o... more Results: We observed a significant association between CD and the CARD15 polymorphisms, with an odds ratio (OR) of 2.9 [95% confidence interval (CI), 1.9 to 4.6] for carriers of 1 variant allele and an OR of 11.8 (95% CI, 3.5 to 40.4) for carriers of 2 variant alleles. ...

Research paper thumbnail of Tu1200 Impaired Remission in Pediatric CronhS Disease – Are Steroids to Blame?

Research paper thumbnail of Omalizumab in the treatment of eosinophilic esophagitis and food allergy

European Journal of Pediatrics, 2011

Omalizumab is currently used in severe asthma and has been tried in other allergic disorders. The... more Omalizumab is currently used in severe asthma and has been tried in other allergic disorders. The authors report two patients with multiple food allergies and eosinophilic esophagitis on a very restrictive diet who have been treated with omalizumab, in order to improve food intolerance--the major distressing factor in their lives. The patients significantly improved in the reported symptoms. However, no improvement was seen regarding esophageal endoscopy and histology. Given the poor histological and endoscopy response, eosinophilic esophagitis persistence is unlikely to be IgE dependent. Omalizumab may improve the quality of life of patients with severe food allergy by improving symptoms, but it does not appear to change endoscopic and histological features of eosinophilic esophagitis in a short follow-up.

Research paper thumbnail of Celiac disease in first degree relatives of celiac children

Arquivos de Gastroenterologia, 2012

Context -The first degree relatives of celiac patients represent a high risk group for the develo... more Context -The first degree relatives of celiac patients represent a high risk group for the development of this disorder, so their screening may be crucial in the prevention of long-term complications. Objective -In order to determine the prevalence of celiac disease in a group of first degree relatives of children with proven gluten intolerance, we conducted a prospective study that consisted in the screening of celiac disease, using a capillary immunoassay rapid test that allows a qualitative detection of IgA antibody to human recombinant tissue transglutaminase (IgA-TTG). Methods -When the screening test was positive subjects were advised to proceed with further investigation. The screening test was performed in 268 first degree relatives (143 mothers, 89 fathers, 36 siblings) corresponding to 163 children with celiac disease. Results -Screening test was positive in 12 relatives (4.5%), of which 1 refused to continue the investigation. In the remaining 11 relatives celiac disease was diagnosed in 7 cases (2.6%, 5 mothers, 2 fathers) who had a median age of 39 years (27-56 years), mild gastrointestinal symptoms, high titre of IgA-TTG and histology abnormalities confirming the diagnosis. All these patients are currently on a gluten-free diet. Conclusion -The prevalence of celiac disease among first degree relatives (2.6%) was 5 times higher than that in the general population. Although the recommendations for screening asymptomatic high risk groups, such as first degree relatives, are not unanimous the early diagnosis is crucial in preventing complications, including nutritional deficiency and cancer. HEADINGS -Celiac disease. Family. Child.