Rosa Ribeiro - Academia.edu (original) (raw)
Papers by Rosa Ribeiro
Nutrients, 2021
We aimed to report the implementation of a phenylketonuria (PKU) transition program and study the... more We aimed to report the implementation of a phenylketonuria (PKU) transition program and study the effects of follow-up with an adult team on metabolic control, adherence, and loss of follow-up. Fifty-five PKU patients were analysed in the study periods (SP): 2 years before (SP1) and after the beginning of adult care (SP2). Retrospective data on metabolic control and number of clinic appointments were collected for each SP, and protein intakes were analysed. In SP2, three patients (6%) were lost to follow-up. There was a small but statistically significant increase in median number of annual blood spots from SP1 to SP2: 11 (7–15) vs. 14 (7–20); p = 0.002. Mean ± SD of median blood Phe remained stable (525 ± 248 µmol/L vs. 552 ± 225 µmol/L; p = 0.100); median % of blood Phe < 480 µmol/L decreased (51 (4–96)% vs. 37 (5–85)%; p = 0.041) and median number of clinic appointments increased from SP1 to SP2: (5 (4–6) vs. 11 (8–13); p < 0.001). No significant differences were found rega...
Revista Portuguesa de Clínica Geral, 2019
Syncope is a frequent reason for emergency room visits. In the elderly, multiple chronic conditio... more Syncope is a frequent reason for emergency room visits. In the elderly, multiple chronic conditions can difficult the diagnosis. In this case, an unexpected association between symptoms and the final diagnosis was a clinical challenge. An 80-year-old Caucasian man presents with syncopal episodes after a cough. Dizziness and visual changes were the only preceding complaints. Structured assessment is needed to face any patient, but is particularly important in the older patient because there are several constraints that hinder the approach: chronic diseases, different physiology, and clinical history sometimes more nonspecific. Thus, a diagnostic approach is discussed, with special focus in carotid sinus syndrome.
Nutrients, 2019
Phenylalanine (Phe) tolerance is highly variable in phenylketonuria (PKU) and rarely described in... more Phenylalanine (Phe) tolerance is highly variable in phenylketonuria (PKU) and rarely described in patients aged ≥12 years. Patients ≥12 years of age with PKU were systematically challenged with additional natural protein (NP) if blood Phe levels remained below 480 µmol/L (i.e., upper target blood Phe level for patients aged ≥12 years using Portuguese PKU guidelines). In PKU patients, NP tolerance was calculated at baseline and a median of 6 months after systematic challenge with NP whilst patients were maintaining a blood Phe ≤480 μmol/L. Anthropometry was assessed at both times. Routine blood Phe levels were collected. We studied 40 well-controlled PKU patients (10 hyperphenylalaninemia (HPA), 23 mild and 7 classic PKU), on a low-Phe diet with a mean age of 17 years (12–29 years). Median daily NP intake significantly increased between assessments (35 vs. 40 g/day, p = 0.01). Twenty-six patients (65%) were able to increase their median NP intake by a median 12 g/day (2–42 g)/day and...
Journal of Inborn Errors of Metabolism and Screening, 2018
In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identif... more In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identified using a loading test (LT). Phenylalanine/natural protein (Phe/NP) intake is increased to elevate blood Phe prior to the LT. In a longitudinal retrospective study, the impact of Phe/NP titration post-LT in 58 patients (19.6 + 8.2 years) with PKU during 4 study periods (SPs) was examined. In SP1 (2010-2013), patients were diet treated only; in SP2 (2014), the Phe/NP titration was followed by the LT in SP3 (2015). In SP4 (2016), patients received diet treatment only (n ¼ 49) or BH4 þ diet (n ¼ 9). The median percentage blood Phe within the target range was higher in SP1 versus SP4 (64 [28-85] vs 45 [0-66]; P < .001). Our results suggest that transient Phe/NP titration, associated with a deliberate increase in NP, may adversely affect metabolic control. Controlled studies are necessary to examine the longer term impact of temporary increased NP with BH4 LT in non-BH4-responsive patients.
BMJ case reports, Jan 16, 2013
Revista portuguesa de …, 2004
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Journal of Medical Cases, 2022
Glutaric aciduria type 2 is a rare inborn disease of fatty acid metabolism. The clinical manifest... more Glutaric aciduria type 2 is a rare inborn disease of fatty acid metabolism. The clinical manifestation of this disease is heterogeneous and ranges from severe neonatal forms to mild late-onset forms. We present a case of a previously healthy 22-year-old woman with unexplainable hypoglycemia and encephalopathic hyperammonemia. Acylcarnitine profile and organic acids analysis were compatible with glutaric aciduria type 2. On suspicion of this disease, the patient started supplements with carnitine and riboflavin, along with hemodialysis with a complete recovery. The genetic test confirmed the diagnosis. Glutaric aciduria type 2 has no cure and the metabolic decompensation can be a severe event, but treatable and preventable, if this pathology gets recognized.
Cureus, 2022
Niemann-Pick disease (NPD) is a rare lysosomal storage disease (LSD) with multisystemic involveme... more Niemann-Pick disease (NPD) is a rare lysosomal storage disease (LSD) with multisystemic involvement. The disease is heterogeneous and classified into three subtypes: type A and B result from deficient acid sphingomyelinase activity and leads to the accumulation of sphingomyelin and type C is a genetically different disease resulting from defective intracellular trafficking of cholesterol with accumulation of glycosphingolipids. Type A is generally a neurodegenerative disease and is fatal in infancy. Type B is a less severe form characterized by pulmonary involvement, hepatosplenomegaly, hyperlipidemia and most patients live into adulthood. In type C, clinical presentation is dominated with neurological involvement. Pulmonary involvement occurs in all three types of Niemann-Pick but most frequently in type B. Clinical manifestations range from a lack of symptoms to respiratory failure, and respiratory symptoms are usually mild with recurrent cough, dyspnoea on exertion and recurrent ...
Nutrients, 2021
Blood phenylalanine (Phe) is used as the primary marker to evaluate metabolic control. Our study ... more Blood phenylalanine (Phe) is used as the primary marker to evaluate metabolic control. Our study aimed to describe the metabolic control of patients with phenylketonuria (PKU) comparing three different treatment recommendations (European guidelines/US guidelines/Portuguese consensus). This was a retrospective, observational, single centre study in patients with PKU collecting data on blood Phe levels from 2017. Nutritional intake data and sapropterin (BH4) prescription were collected at the last appointment of 2017. The final sample studied included 87 patients (48% females) [13 hyperphenylalaninemia; 47 mild PKU; 27 classical PKU] with a median age of 18 y (range: 1–36 y). The median number of blood Phe measurements for patients was 21 (range: 6–89). In patients aged < 12 y, the median blood Phe level was 300 μmol/L (range 168–480) and 474 μmol/L (range 156–1194) for patients ≥ 12 y. Overall, a median of 83% of blood Phe levels were within the European PKU guidelines target rang...
Revista Portuguesa De Cardiologia Orgao Oficial Da Sociedade Portuguesa De Cardiologia Portuguese Journal of Cardiology an Official Journal of the Portuguese Society of Cardiology, May 1, 2004
Os autores descrevem o caso de um doente do sexo masculino, 78 anos, internado por febre, dor lom... more Os autores descrevem o caso de um doente do sexo masculino, 78 anos, internado por febre, dor lombar e com sopro sistólico. Diagnosticada endocardite a estreptococos do grupo viridans associada a espondilodiscite. São apresentados resultados e imagens dos exames complementares. Este caso é comparado com estudos semelhantes na literatura.
Background: In-hospital cardiorespiratory arrest (CRA) has a se- vere prognosis, but is usually p... more Background: In-hospital cardiorespiratory arrest (CRA) has a se- vere prognosis, but is usually preceded by alert signs. These signs should be recognized and necessary procedures predicted. Methods: Retrospective evaluation of alert signs and symptoms in the 6 hours before death, decision of Do Not Resuscitate (DNR) and attitudes chosen in deceased patients in a 3 year period. Results: Four hundred
![Research paper thumbnail of CASOS CLÍNICOS Endocardite Bacteriana a Estreptococos do Grupo Viridans Associada a Espondilodiscite [ 46 ]](https://attachments.academia-assets.com/84016405/thumbnails/1.jpg)
](Os autores descrevem o caso de um doente do sexo masculino, 78 anos, internado por febre, dor lom... more Os autores descrevem o caso de um doente do sexo masculino, 78 anos, internado por febre, dor lombar e com sopro sistólico. Diagnosticada endocardite a estreptococos do grupo viridans associada a espondilodiscite. São apresentados resultados e imagens dos exames complementares. Este caso é comparado com estudos semelhantes na literatura.
Revista portuguesa de cardiologia : orgão oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology, 2004
The authors report a case of a 78-year-old male, admitted to the Hospital with fever, lumbar pain... more The authors report a case of a 78-year-old male, admitted to the Hospital with fever, lumbar pain and a systolic murmur. Viridans streptococcus endocarditis associated with spondylodiscitis was diagnosed. Images and results of the exams are presented. This case is compared with similar studies in the literature.
Nutrients, 2021
We aimed to report the implementation of a phenylketonuria (PKU) transition program and study the... more We aimed to report the implementation of a phenylketonuria (PKU) transition program and study the effects of follow-up with an adult team on metabolic control, adherence, and loss of follow-up. Fifty-five PKU patients were analysed in the study periods (SP): 2 years before (SP1) and after the beginning of adult care (SP2). Retrospective data on metabolic control and number of clinic appointments were collected for each SP, and protein intakes were analysed. In SP2, three patients (6%) were lost to follow-up. There was a small but statistically significant increase in median number of annual blood spots from SP1 to SP2: 11 (7–15) vs. 14 (7–20); p = 0.002. Mean ± SD of median blood Phe remained stable (525 ± 248 µmol/L vs. 552 ± 225 µmol/L; p = 0.100); median % of blood Phe < 480 µmol/L decreased (51 (4–96)% vs. 37 (5–85)%; p = 0.041) and median number of clinic appointments increased from SP1 to SP2: (5 (4–6) vs. 11 (8–13); p < 0.001). No significant differences were found rega...
Revista Portuguesa de Clínica Geral, 2019
Syncope is a frequent reason for emergency room visits. In the elderly, multiple chronic conditio... more Syncope is a frequent reason for emergency room visits. In the elderly, multiple chronic conditions can difficult the diagnosis. In this case, an unexpected association between symptoms and the final diagnosis was a clinical challenge. An 80-year-old Caucasian man presents with syncopal episodes after a cough. Dizziness and visual changes were the only preceding complaints. Structured assessment is needed to face any patient, but is particularly important in the older patient because there are several constraints that hinder the approach: chronic diseases, different physiology, and clinical history sometimes more nonspecific. Thus, a diagnostic approach is discussed, with special focus in carotid sinus syndrome.
Nutrients, 2019
Phenylalanine (Phe) tolerance is highly variable in phenylketonuria (PKU) and rarely described in... more Phenylalanine (Phe) tolerance is highly variable in phenylketonuria (PKU) and rarely described in patients aged ≥12 years. Patients ≥12 years of age with PKU were systematically challenged with additional natural protein (NP) if blood Phe levels remained below 480 µmol/L (i.e., upper target blood Phe level for patients aged ≥12 years using Portuguese PKU guidelines). In PKU patients, NP tolerance was calculated at baseline and a median of 6 months after systematic challenge with NP whilst patients were maintaining a blood Phe ≤480 μmol/L. Anthropometry was assessed at both times. Routine blood Phe levels were collected. We studied 40 well-controlled PKU patients (10 hyperphenylalaninemia (HPA), 23 mild and 7 classic PKU), on a low-Phe diet with a mean age of 17 years (12–29 years). Median daily NP intake significantly increased between assessments (35 vs. 40 g/day, p = 0.01). Twenty-six patients (65%) were able to increase their median NP intake by a median 12 g/day (2–42 g)/day and...
Journal of Inborn Errors of Metabolism and Screening, 2018
In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identif... more In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identified using a loading test (LT). Phenylalanine/natural protein (Phe/NP) intake is increased to elevate blood Phe prior to the LT. In a longitudinal retrospective study, the impact of Phe/NP titration post-LT in 58 patients (19.6 + 8.2 years) with PKU during 4 study periods (SPs) was examined. In SP1 (2010-2013), patients were diet treated only; in SP2 (2014), the Phe/NP titration was followed by the LT in SP3 (2015). In SP4 (2016), patients received diet treatment only (n ¼ 49) or BH4 þ diet (n ¼ 9). The median percentage blood Phe within the target range was higher in SP1 versus SP4 (64 [28-85] vs 45 [0-66]; P < .001). Our results suggest that transient Phe/NP titration, associated with a deliberate increase in NP, may adversely affect metabolic control. Controlled studies are necessary to examine the longer term impact of temporary increased NP with BH4 LT in non-BH4-responsive patients.
BMJ case reports, Jan 16, 2013
Revista portuguesa de …, 2004
RefDoc Bienvenue - Welcome. Refdoc est un service / is powered by. ...
Journal of Medical Cases, 2022
Glutaric aciduria type 2 is a rare inborn disease of fatty acid metabolism. The clinical manifest... more Glutaric aciduria type 2 is a rare inborn disease of fatty acid metabolism. The clinical manifestation of this disease is heterogeneous and ranges from severe neonatal forms to mild late-onset forms. We present a case of a previously healthy 22-year-old woman with unexplainable hypoglycemia and encephalopathic hyperammonemia. Acylcarnitine profile and organic acids analysis were compatible with glutaric aciduria type 2. On suspicion of this disease, the patient started supplements with carnitine and riboflavin, along with hemodialysis with a complete recovery. The genetic test confirmed the diagnosis. Glutaric aciduria type 2 has no cure and the metabolic decompensation can be a severe event, but treatable and preventable, if this pathology gets recognized.
Cureus, 2022
Niemann-Pick disease (NPD) is a rare lysosomal storage disease (LSD) with multisystemic involveme... more Niemann-Pick disease (NPD) is a rare lysosomal storage disease (LSD) with multisystemic involvement. The disease is heterogeneous and classified into three subtypes: type A and B result from deficient acid sphingomyelinase activity and leads to the accumulation of sphingomyelin and type C is a genetically different disease resulting from defective intracellular trafficking of cholesterol with accumulation of glycosphingolipids. Type A is generally a neurodegenerative disease and is fatal in infancy. Type B is a less severe form characterized by pulmonary involvement, hepatosplenomegaly, hyperlipidemia and most patients live into adulthood. In type C, clinical presentation is dominated with neurological involvement. Pulmonary involvement occurs in all three types of Niemann-Pick but most frequently in type B. Clinical manifestations range from a lack of symptoms to respiratory failure, and respiratory symptoms are usually mild with recurrent cough, dyspnoea on exertion and recurrent ...
Nutrients, 2021
Blood phenylalanine (Phe) is used as the primary marker to evaluate metabolic control. Our study ... more Blood phenylalanine (Phe) is used as the primary marker to evaluate metabolic control. Our study aimed to describe the metabolic control of patients with phenylketonuria (PKU) comparing three different treatment recommendations (European guidelines/US guidelines/Portuguese consensus). This was a retrospective, observational, single centre study in patients with PKU collecting data on blood Phe levels from 2017. Nutritional intake data and sapropterin (BH4) prescription were collected at the last appointment of 2017. The final sample studied included 87 patients (48% females) [13 hyperphenylalaninemia; 47 mild PKU; 27 classical PKU] with a median age of 18 y (range: 1–36 y). The median number of blood Phe measurements for patients was 21 (range: 6–89). In patients aged < 12 y, the median blood Phe level was 300 μmol/L (range 168–480) and 474 μmol/L (range 156–1194) for patients ≥ 12 y. Overall, a median of 83% of blood Phe levels were within the European PKU guidelines target rang...
Revista Portuguesa De Cardiologia Orgao Oficial Da Sociedade Portuguesa De Cardiologia Portuguese Journal of Cardiology an Official Journal of the Portuguese Society of Cardiology, May 1, 2004
Os autores descrevem o caso de um doente do sexo masculino, 78 anos, internado por febre, dor lom... more Os autores descrevem o caso de um doente do sexo masculino, 78 anos, internado por febre, dor lombar e com sopro sistólico. Diagnosticada endocardite a estreptococos do grupo viridans associada a espondilodiscite. São apresentados resultados e imagens dos exames complementares. Este caso é comparado com estudos semelhantes na literatura.
Background: In-hospital cardiorespiratory arrest (CRA) has a se- vere prognosis, but is usually p... more Background: In-hospital cardiorespiratory arrest (CRA) has a se- vere prognosis, but is usually preceded by alert signs. These signs should be recognized and necessary procedures predicted. Methods: Retrospective evaluation of alert signs and symptoms in the 6 hours before death, decision of Do Not Resuscitate (DNR) and attitudes chosen in deceased patients in a 3 year period. Results: Four hundred
Os autores descrevem o caso de um doente do sexo masculino, 78 anos, internado por febre, dor lom... more Os autores descrevem o caso de um doente do sexo masculino, 78 anos, internado por febre, dor lombar e com sopro sistólico. Diagnosticada endocardite a estreptococos do grupo viridans associada a espondilodiscite. São apresentados resultados e imagens dos exames complementares. Este caso é comparado com estudos semelhantes na literatura.
Revista portuguesa de cardiologia : orgão oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology, 2004
The authors report a case of a 78-year-old male, admitted to the Hospital with fever, lumbar pain... more The authors report a case of a 78-year-old male, admitted to the Hospital with fever, lumbar pain and a systolic murmur. Viridans streptococcus endocarditis associated with spondylodiscitis was diagnosed. Images and results of the exams are presented. This case is compared with similar studies in the literature.