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Article: The Clinical Spectrum of Adrenoleukodystrophy at a Portuguese Tertiary Hospital: Case Series and Review of Literature.

Menezes, Catarina / Losa, Ana / Mosca, Sara / de Carvalho Vaz, Ana / Figueiredo, Catarina M / Garrido, Cristina / Borges, Teresa / Borges Correia, Joana

Cureus

2024 Volume 16, Issue 1, Page(s) e52496

Abstract: Adrenoleukodystrophy, a rare genetic disease associated with the X chromosome (X-ALD - X-linked adrenoleukodystrophy), predominantly affects males and stems from mutations in ... ...

Abstract	Adrenoleukodystrophy, a rare genetic disease associated with the X chromosome (X-ALD - X-linked adrenoleukodystrophy), predominantly affects males and stems from mutations in the
Language	English
Publishing date	2024-01-18
Publishing country	United States
Document type	Case Reports
ZDB-ID	2747273-5
ISSN	2168-8184
ISSN	2168-8184
DOI	10.7759/cureus.52496
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Percutaneous kidney biopsies in children: a 24-year review in a tertiary center in northern Portugal.

Sousa, Patrícia / Brás, Catarina / Menezes, Catarina / Vizcaino, Ramon / Costa, Teresa / Faria, Maria Sameiro / Mota, Conceição

Jornal brasileiro de nefrologia

2024 Volume 46, Issue 3, Page(s) e20230143

Abstract: Introduction: Percutaneous kidney biopsy (KB) is crucial to the diagnosis and management of several renal pathologies. National data on native KB in pediatric patients are scarce. We aimed to review the demographic and clinical characteristics and ... ...

Abstract	Introduction: Percutaneous kidney biopsy (KB) is crucial to the diagnosis and management of several renal pathologies. National data on native KB in pediatric patients are scarce. We aimed to review the demographic and clinical characteristics and histopathological patterns in children who underwent native percutaneous KB over 24 years. Methods: Retrospective observational study of patients undergoing native percutaneous KB in a pediatric nephrology unit between 1998 and 2021, comparing 3 periods: period 1 (1998-2005), period 2 (2006-2013), and period 3 (2014-2021). Results: We found that 228 KB were performed, 78 (34.2%) in period 1, 91 (39.9%) in period 2, and 59 (25.9%) in period 3. The median age at KB was 11 (7-14) years. The main indications for KB were nephrotic syndrome (NS) (42.9%), hematuria and/or non-nephrotic proteinuria (35.5%), and acute kidney injury (13.2%). Primary glomerulopathies were more frequent (67.1%), particularly minimal change disease (MCD) (25.4%), IgA nephropathy (12.7%), and mesangioproliferative glomerulonephritis (GN) (8.8%). Of the secondary glomerulopathies, lupus nephritis (LN) was the most prevalent (11.8%). In group 1, hematuria and/or non-nephrotic proteinuria were the main reasons for KB, as opposed to NS in groups 2 and 3 (p < 0.01). LN showed an increasing trend (period 1-3: 2.6%-5.3%) and focal segmental glomerular sclerosis (FSGS) showed a slight decreasing trend (period 1-3: 3.1%-1.8%), without statistical significance. Conclusions: The main indication for KB was NS, which increased over time, justifying the finding of MCD as main histological diagnosis. LN showed an increase in incidence over time, while FSGS cases did not increase.
MeSH term(s)	Child ; Humans ; Adolescent ; Glomerulosclerosis, Focal Segmental/pathology ; Hematuria/epidemiology ; Hematuria/etiology ; Hematuria/pathology ; Portugal/epidemiology ; Kidney/pathology ; Kidney Diseases/epidemiology ; Kidney Diseases/pathology ; Nephrotic Syndrome/diagnosis ; Nephrosis, Lipoid ; Lupus Nephritis/pathology ; Glomerulonephritis, IGA/pathology ; Proteinuria ; Retrospective Studies ; Biopsy
Language	Portuguese
Publishing date	2024-04-08
Publishing country	Brazil
Document type	Observational Study ; Journal Article
ZDB-ID	2057873-8
ISSN	2175-8239 ; 2175-8239
ISSN (online)	2175-8239
ISSN	2175-8239
DOI	10.1590/2175-8239-JBN-2023-0143en
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Article ; Online: Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation.

Igreja, Liliana / Menezes, Catarina / Pinto, Pedro S / Freixo, João Parente / Chorão, Rui

Pediatric neurology

2023 Volume 149, Page(s) 137–140

Abstract: Lissencephaly with cerebellar hypoplasia (LCH) is a rare variant form of lissencephaly, its distinctive neuroradiological phenotype being an important investigation clue regarding the potential involved genes, including variants in RELN gene. We report ... ...

Abstract	Lissencephaly with cerebellar hypoplasia (LCH) is a rare variant form of lissencephaly, its distinctive neuroradiological phenotype being an important investigation clue regarding the potential involved genes, including variants in RELN gene. We report on a case of LCH whose clinical and neuroradiological features led to the identification of a homozygous pathogenic variant in RELN gene that has not been previously reported in the scientific literature.
MeSH term(s)	Humans ; Nervous System Malformations/diagnostic imaging ; Nervous System Malformations/genetics ; Lissencephaly/diagnostic imaging ; Lissencephaly/genetics ; Homozygote ; Mutation/genetics
Language	English
Publishing date	2023-09-25
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	639164-3
ISSN	1873-5150 ; 0887-8994
ISSN (online)	1873-5150
ISSN	0887-8994
DOI	10.1016/j.pediatrneurol.2023.09.012
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Article: Estimating the Glomerular Filtration Rate in Pediatric Patients With Neurogenic Bladder: A Comparison Between Creatinine- and Cystatin C-Equations.

Menezes, Catarina / Costa, Teresa / Brás, Catarina / Sousa, Patrícia / Mendes, Ana / Amorim, Rosa / Faria, Maria Sameiro / Mota, Conceição

Cureus

2023 Volume 15, Issue 7, Page(s) e42337

Abstract: Background and objective Patients with neurogenic bladder (NB) are at a higher risk of developing chronic kidney disease (CKD). Due to their lower muscle mass, the estimated glomerular filtration rate (eGFR) based on creatinine (Cr) may be overestimated ... ...

Abstract	Background and objective Patients with neurogenic bladder (NB) are at a higher risk of developing chronic kidney disease (CKD). Due to their lower muscle mass, the estimated glomerular filtration rate (eGFR) based on creatinine (Cr) may be overestimated and delay the diagnosis of renal failure. This study compared eGFR calculated with different equations based on Cr and/or cystatin C (CysC) in children with NB, and the differences between patients with lower muscle mass (underdeveloped lower limbs) and those with independent gait (less muscle depletion). Methods We calculated the eGFR in pediatric patients with NB and CKD stages 1 and 2 by using the following equations: Chronic Kidney Disease in Children equation for serum creatinine (CKiD-Cr), CKiD-CysC, CKiD combined-Cr/CysC, Zappitelli-CysC, and Zappitelli combined-Cr/CysC. Results We evaluated a total of 47 patients, 74.5% with CKD stage 1, with a median age of 14.1 years. Of these participants, 59.6% had lipo/myelomeningocele. The CKiD-Cr and CysC-based equations led to significantly lower calculated eGFR (p<0.05), specifically CKiD-CysC (p<0.001), Zappitelli-CysC (p<0.001), CKiD-Cr/CysC (p<0.001), and Zappitelli combined-Cr/CysC (p<0.05). When CKiD-CysC was used, 68% of the patients moved to a more advanced CKD stage. In patients without independent gait, with lower muscle mass (55.3%), the median eGFR calculated using the CKiD-Cr and CKiD combined-Cr/CysC equations was significantly higher (p<0.05). However, there were no differences between the two groups when using the other CysC-based equations. Conclusion In patients with NB and poor muscle mass, the CKiD-Cr equation may overestimate renal function. CysC-based equations seem more reliable in these patients, especially in those with greater muscular atrophy.
Language	English
Publishing date	2023-07-23
Publishing country	United States
Document type	Journal Article
ZDB-ID	2747273-5
ISSN	2168-8184
ISSN	2168-8184
DOI	10.7759/cureus.42337
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Article ; Online: Cultural competency and ethical behavior for collaboration in limited-resource settings: Guidelines from the Society of University Surgeons Academic Global Surgery Committee and the Association for Academic Global Surgery.

Yang, George / Bekele, Abebe / Krishnaswami, Sanjay / Ameh, Emmanuel / Sifri, Ziad / Aisuodionoe-Shadrach, Oseremen / Swaroop, Mamta / Orloff, Susan / Abdullah, Fizan / Nwomeh, Benedict / Chen, Mike / Charles, Anthony / Ezeme, Constantine / Juillard, Catherine / Menezes, Catarina / Chitalu, Mubanga / Nwariaku, Fiemu / Jawa, Randeep S

Surgery

2024

Abstract: Background: There are an increasing number of global surgery activities worldwide. With such tremendous growth, there is a potential risk for untoward interactions between high-income country members and low-middle income country members, leading to ... ...

Abstract	Background: There are an increasing number of global surgery activities worldwide. With such tremendous growth, there is a potential risk for untoward interactions between high-income country members and low-middle income country members, leading to programmatic failure, poor results, and/or low impact. Methods: Key concepts for cultural competency and ethical behavior were generated by the Academic Global Surgery Committee of the Society for University Surgeons in collaboration with the Association for Academic Global Surgery. Both societies ensured active participation from high-income countries and low-middle income countries. Results: The guidelines provide a framework for cultural competency and ethical behavior for high-income country members when collaborating with low-middle income country partners by offering recommendations for: (1) preparation for work with low-middle income countries; (2) process standardization; (3) working with the local community; (4) limits of practice; (5) patient autonomy and consent; (6) trainees; (7) potential pitfalls; and (8) gray areas. Conclusion: The article provides an actionable framework to address potential cultural competency and ethical behavior issues in high-income country - low-middle income country global surgery collaborations.
Language	English
Publishing date	2024-04-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	202467-6
ISSN	1532-7361 ; 0039-6060
ISSN (online)	1532-7361
ISSN	0039-6060
DOI	10.1016/j.surg.2024.02.027
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Article ; Online: Smartphone addiction and postural alterations in the cervical region in adolescents.

Fontenele, Ticiana Mesquita de Oliveira / Nunes, Paula Pessoa de Brito / Silva, Francisco Valter Miranda / Menezes, Catarina Nívea Bezerra / Andrade, Rodrigo Fragoso de / Mont'Alverne, Daniela Gardano Bucharles / Saintrain, Maria Vieira de Lima / Frota, Mirna Albuquerque / Abdon, Ana Paula Vasconcellos

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo

2023 Volume 42, Page(s) e2023051

Abstract: Objective: To evaluate smartphone addiction and postural alterations in the cervical region in adolescents.: Methods: A cross-sectional study with 281 adolescents (15 to 19 years old), attending the 1st to the 3rd grades of High School, carried out ... ...

Abstract	Objective: To evaluate smartphone addiction and postural alterations in the cervical region in adolescents. Methods: A cross-sectional study with 281 adolescents (15 to 19 years old), attending the 1st to the 3rd grades of High School, carried out between September and October 2019 in the city of Fortaleza, Ceará, Brazil. Data collection took place in two stages. In the first, they answered four self-administered questionnaires: sociodemographic questionnaire, health conditions and smartphone use, Nordic Musculoskeletal Symptom Questionnaire (NMQ), Self-Report Questionnaire (SRQ-20) and the Smartphone Addiction Inventory (SPAI-BR). In the second stage, they were submitted to photogrammetry using the Postural Assessment Software (SAPO) and anthropometric assessment (weight and height). The software SPSS Statistics version 23.0 was used for data analysis. Results: Of the total number of adolescents, 63.3% (n=178) showed smartphone addiction, using it for 5.8 hours (±3.5) during the week and 8.7 (±4.0) hours on the weekend. When analyzing postural alignment in the anterior view, a significant reduction in the lateral head tilt was observed when typing on the smartphone (p=0.002) compared to the anatomical position (baseline). In the lateral view, an increase in head anteriorization was observed during smartphone use (p<0.05). There was an association between smartphone addiction and head anteriorization (p<0.05). Conclusions: The use of the smartphone in the typing position causes postural alterations in the cervical region, especially in adolescents with smartphone addiction. Therefore, health promotion measures that alert adolescents to the adverse effects caused by prolonged smartphone use are necessary.
MeSH term(s)	Humans ; Adolescent ; Young Adult ; Adult ; Cross-Sectional Studies ; Internet Addiction Disorder ; Behavior, Addictive/epidemiology ; Behavior, Addictive/diagnosis ; Surveys and Questionnaires ; Self Report
Language	English
Publishing date	2023-12-22
Publishing country	Brazil
Document type	Journal Article
ZDB-ID	2560228-7
ISSN	1984-0462 ; 1984-0462
ISSN (online)	1984-0462
ISSN	1984-0462
DOI	10.1590/1984-0462/2024/42/2023051
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Article ; Online: Everolimus as a therapeutic option in refractory epilepsy in children with tuberous sclerosis: a systematic review.

Menezes, Catarina Ester Gomes / Santos, Débora Lopes Dos / Nery, Erick Santos / Serpa, Evelin Duarte / Morais, Lécio Aragão Souza / Dutra, Lucas Santana / Portela Filho, Marcos Baruch / Goes, Julieta Sobreira

Arquivos de neuro-psiquiatria

2023 Volume 81, Issue 4, Page(s) 392–398

Abstract: Background: Tuberous sclerosis (TS) is a multisystem genetic disease in which epilepsy is a frequent manifestation and is often difficult to control. Everolimus is a drug with proven efficacy in the treatment of other conditions related to TS, and some ... ...

Title translation	Everolimo como opção terapêutica na epilepsia refratária em crianças com esclerose tuberosa: uma revisão sistemática.
Abstract	Background: Tuberous sclerosis (TS) is a multisystem genetic disease in which epilepsy is a frequent manifestation and is often difficult to control. Everolimus is a drug with proven efficacy in the treatment of other conditions related to TS, and some evidence suggests that its use benefits the treatment of refractory epilepsy in these patients. Objective: To evaluate the efficacy of everolimus in controlling refractory epilepsy in children with TS. Methods: A literature review was conducted in the Pubmed, BVS, and Medline databases, using the descriptors Results: Our search screened 246 articles from electronic databases, 6 of which were chosen for review. Despite the methodological variations between the studies, most patients benefited from the use of everolimus to control refractory epilepsy, with response rates ranging from 28.6 to 100%. Adverse effects were present in all studies leading to dropouts of some patients; however, the majority were of low severity. Conclusion: The selected studies suggest a beneficial effect of everolimus in the treatment of refractory epilepsy in children with TS, despite the adverse effects observed. Further studies involving a larger sample in double-blind controlled clinical trials should be performed to provide more information and statistical credibility.
MeSH term(s)	Humans ; Child ; Drug Resistant Epilepsy/drug therapy ; Drug Resistant Epilepsy/etiology ; Everolimus/therapeutic use ; Prospective Studies ; Tuberous Sclerosis/complications ; Tuberous Sclerosis/drug therapy ; Combined Modality Therapy ; Drug-Related Side Effects and Adverse Reactions ; Randomized Controlled Trials as Topic
Chemical Substances	Everolimus (9HW64Q8G6G)
Language	English
Publishing date	2023-03-02
Publishing country	Germany
Document type	Systematic Review ; Journal Article
ZDB-ID	418916-4
ISSN	1678-4227 ; 0004-282X
ISSN (online)	1678-4227
ISSN	0004-282X
DOI	10.1055/s-0042-1758442
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Article ; Online: Geographical Inequalities in Access to Bellwether Procedures in Brazil.

Faleiro, Matheus Daniel / Fernandez, Miguel Godeiro / Santos, Jéssica Moreira / Menezes, Catarina Ester Gomes / Lima, João Vitor Sabadine / Haddad, Júlia Oliveira Dabien / Viana, Sofia Wagemaker / Alonso, Nivaldo

World journal of surgery

2022 Volume 47, Issue 3, Page(s) 593–599

Abstract: Background: Brazil is a middle-income country that aims to provide universal health coverage, but its surgical system's efficiency has rarely been analyzed. In an effort to strengthen surgical national systems, the Lancet Commission on Global Surgery ... ...

Abstract	Background: Brazil is a middle-income country that aims to provide universal health coverage, but its surgical system's efficiency has rarely been analyzed. In an effort to strengthen surgical national systems, the Lancet Commission on Global Surgery proposed bellwether procedures as quality indicators of surgical workforces. This study aims to evaluate regional inequalities in access to bellwether procedures and their associated mortality across the five Brazilian geographical regions. Methods: Using DATASUS, Brazil's national healthcare database, data were collected on the total amount of performed bellwether procedures-cesarean section, laparotomy, and open fracture management-and their associated mortality, by geographical region. We evaluated the years 2018-2020, both in emergent and elective conditions. Statistical analysis was performed by one-way ANOVA test and Tukey's multiple comparisons test. Results: During this period, DATASUS registered 2,687,179 cesarean sections, 1,036,841 laparotomies, and 648,961 open fracture treatments. The access and associated mortality related to these procedures were homogeneous between the regions in elective care. There were significant geographical inequalities in access and associated mortality in emergency care (p < 0.05, 95% CI) for all bellwether procedures. The Southeast, the most economically developed region of the country, was the region with the lowest amount of bellwether procedures per 100,000 inhabitants. Conclusion: Brazil's public surgical system is competent at promoting elective surgical care, but more effort is needed to fortify emergency care services. Public policies should encourage equity in the geographic allocation of the surgical workforce.
MeSH term(s)	Humans ; Female ; Pregnancy ; Fractures, Open/surgery ; Health Services Accessibility ; Brazil ; Cesarean Section ; Laparotomy
Language	English
Publishing date	2022-12-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	224043-9
ISSN	1432-2323 ; 0364-2313
ISSN (online)	1432-2323
ISSN	0364-2313
DOI	10.1007/s00268-022-06855-9
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Translation into Brazilian Portuguese and Cross-Cultural Adaptation of the NCCPC-PV for Pain Evaluation of Patients with Intellectual Disability to Communicate.

Colares, Paulo Giordano Baima / Menezes, Catarina Nivea Bezerra / Lima, Fabrício Oliveira / Celedonio, Viviane Rocha / de Vasconcelos, Lara Moreira Teles / Gomes, Josenilia Maria Alves

Revista brasileira de ortopedia

2020 Volume 55, Issue 2, Page(s) 170–180

Abstract: ... ...

Abstract	Objective
Language	English
Publishing date	2020-04-27
Publishing country	Germany
Document type	Journal Article
ZDB-ID	2411301-3
ISSN	1982-4378 ; 0102-3616
ISSN (online)	1982-4378
ISSN	0102-3616
DOI	10.1055/s-0039-3400739
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Article: Everolimus as a therapeutic option in refractory epilepsy in children with tuberous sclerosis: a systematic review

Menezes, Catarina Ester Gomes / Santos, Débora Lopes dos / Nery, Erick Santos / Serpa, Evelin Duarte / Morais, Lécio Aragão Souza / Dutra, Lucas Santana / Portela Filho, Marcos Baruch / Goes, Julieta Sobreira

Arquivos de Neuro-Psiquiatria

2023 Volume 81, Issue 04, Page(s) 392–398

Abstract	Background: Tuberous sclerosis (TS) is a multisystem genetic disease in which epilepsy is a frequent manifestation and is often difficult to control. Everolimus is a drug with proven efficacy in the treatment of other conditions related to TS, and some evidence suggests that its use benefits the treatment of refractory epilepsy in these patients. Objective: To evaluate the efficacy of everolimus in controlling refractory epilepsy in children with TS. Methods: A literature review was conducted in the Pubmed, BVS, and Medline databases, using the descriptors Tuberous sclerosis Children Epilepsy, and Everolimus. Original clinical trials and prospective studies published in Portuguese or English in the last decade that evaluated the use of everolimus as an adjuvant therapy in the control of refractory epilepsy in pediatric patients with TS were included. Results: Our search screened 246 articles from electronic databases, 6 of which were chosen for review. Despite the methodological variations between the studies, most patients benefited from the use of everolimus to control refractory epilepsy, with response rates ranging from 28.6 to 100%. Adverse effects were present in all studies leading to dropouts of some patients; however, the majority were of low severity. Conclusion: The selected studies suggest a beneficial effect of everolimus in the treatment of refractory epilepsy in children with TS, despite the adverse effects observed. Further studies involving a larger sample in double-blind controlled clinical trials should be performed to provide more information and statistical credibility.
Keywords	Tuberous Sclerosis ; Epilepsy ; Everolimus ; TOR Serine-Threonine Kinases ; Child ; Esclerose Tuberosa ; Epilepsia ; Everolimo ; Serina-Treonina Quinases TOR ; Criança
Language	English
Publishing date	2023-03-02
Publisher	Thieme Revinter Publicações Ltda.
Publishing place	Stuttgart ; New York
Document type	Article
ZDB-ID	418916-4
ISSN	1678-4227 ; 0004-282X
ISSN (online)	1678-4227
ISSN	0004-282X
DOI	10.1055/s-0042-1758442
Database	Thieme publisher's database

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