A5089996226- Lysosomal Storage Disorders Research
- Trypanosoma species research and implications
- Dermatology and Skin Diseases
- Metabolism and Genetic Disorders
- Muscle Physiology and Disorders
- Neurofibromatosis and Schwannoma Cases
- Folate and B Vitamins Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Glycogen Storage Diseases and Myoclonus
- Health, Nursing, Elderly Care
- Prenatal Screening and Diagnostics
- Hair Growth and Disorders
- Genomic variations and chromosomal abnormalities
- Family and Disability Support Research
- Genetics and Neurodevelopmental Disorders
- Food Allergy and Anaphylaxis Research
- Chromosomal and Genetic Variations
- Neurogenetic and Muscular Disorders Research
- Maternal and Neonatal Healthcare
- Hearing, Cochlea, Tinnitus, Genetics
- Childhood Cancer Survivors' Quality of Life
- Meningioma and schwannoma management
- Epigenetics and DNA Methylation
- Soft tissue tumors and treatment
- Nail Diseases and Treatments
Universidade Federal do Rio de Janeiro
2015-2024
Universidade de Caxias do Sul
2024
Fleury S.A. (Brazil)
2024
Universidade Lusófona
2023
IDEXX Laboratories (France)
2021
Hospital de Santa Maria
2021
Universidade Federal de Pelotas
2018
Hospital Universitário Clementino Fraga Filho
2014-2017
Universidade Federal de Campina Grande
2003-2016
Fundação Faculdade de Medicina
2015
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one lysosomal enzymes involved in glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to accumulation GAG various organs and tissues affected patients, resulting a multisystemic clinical picture, sometimes including cognitive impairment. Until beginning XXI century, treatment was mainly supportive. Bone marrow transplantation improved natural course disease some types MPS, but morbidity...
Abstract Aim: This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II). Methods: Details and their disease manifestations were obtained from a review medical records, interviews and/or families, physical examination patients. Results: Mean birth weight was 3360 g, median age at onset symptoms 18 months diagnosis 6 years. For whole sample (median age, 8.2 years; range, 2.8–53.0 years), neurological degeneration,...
This paper presents data collected by a Brazilian center in multinational multicenter observational study of patients with mucopolysaccharidosis type VI (MPS VI), aiming at determining the epidemiological, clinical, and biochemical profile these patients. Twenty‐eight south‐American MPS were evaluated through medical interview, physical exam, echocardiogram, electrocardiogram, ophthalmologic evaluation, quantification glycosaminoglycans (GAGs) urine, measurement activity N...
Mucopolysaccharidoses (MPS) form a group of inherited metabolic disorders characterized by intralysosomal storage glycosaminoglycans. This study aimed to investigate the path followed Brazilian patients from birth diagnosis. An interview was conducted with patient's parents or guardians subsequent review medical records. One hundred thirteen MPS were included (MPS I: 18, II: 43, IIIA: 2, IIIB: 3, IIIC: 1, IVA: 15, IVB: VI: 29, VII: 1) 97 families. Median age at onset signs/symptoms 18 months...
Objective Motor function tests are used clinically and in research children, particularly those with neuromuscular disorders. Timed recommended the follow-up of patients This study was designed to know how healthy children perform on simple timed motor tests. Material methods In a cross-sectional observational study, 345 aged 2–12 years, followed at Federal University Rio de Janeiro's Institute Paediatric, were evaluated. To be eligible they had have acquired independent walking before age...
To compare the performance in phonological processing skills, reading speed and comprehension before after remediation a restricted group of schoolchildren with Attention Deficit Hyperactivity Disorder (ADHD) dyslexia.Thirty-two from 2nd to 8th year Elementary School both genders, diagnosis ADHD Dyslexia according DSM-5, participated this study. All patients underwent Phonological Remediation Program consisted 18 weekly sessions.The results, expressed z scores, showed statistically...
Abstract Amniotic deformity, adhesion, and mutilation (ADAM) sequence is a heterogeneous condition, with broad spectrum of anomalies, where intrinsic causes, as defect germ plasm, vascular disruption, disturbance threshold boundaries morphogens during early gastrulation, alternate extrinsic causes amniotic band rupture to explain the condition. This study aimed identify which phenotypes could be considered ADAM sequence, determine prevalence rate, disclose risk factors for this sequence. We...
Mutations in the Jumonji AT-rich interactive domain 1C (JARID1C/SMCX/KDM5C) gene, located at Xp11.22, are emerging as frequent causes of X-linked intellectual disability (XLID). KDM5C encodes for a member an ARID protein family that harbors conserved DNA-binding motifs and acts histone H3 lysine 4 demethylase, suggesting potential role epigenetic regulation during development, cell growth differentiation. In this study, we describe clinical genetic findings Brazilian co-segregating novel...
Staphylococcus aureus is highly prevalent among patients with atopic dermatitis (AD), and this pathogen may trigger aggravate AD lesions. The aim of study was to determine the prevalence S. in nares pediatric subjects verify phenotypic molecular characteristics isolates AD. Isolates were tested for antimicrobial susceptibility, SCCmec typing, Panton-Valentine Leukocidin (PVL) genes. Lineages determined by pulsed-field gel electrophoresis multilocus sequence typing (MLST). severity assessed...
Introduction: Crohn's Disease (CD) is a chronic inflammatory disorder with heterogeneous presentation. While diarrhea, abdominal pain, and weight loss are hallmarks, atypical manifestations can obscure the diagnosis. This report highlights an unusual presentation of CD to emphasize need for comprehensive diagnostic strategies. Case Report: A 25-year-old male presented peripheral edema, anorexia, distension but lacked classic gastrointestinal (GI) symptoms. Laboratory findings included...
O estudo teve como objetivo realizar uma revisão de literatura sobre o diagnóstico da Síndrome Eagle e do alongamento processo estilóide através radiografias panorâmicas, analisando a eficácia dessa técnica na identificação condição. Trata-se narrativa literatura. Foram realizadas buscas nas bases dados PubMed, LILACS Google Acadêmico, utilizando descritores relacionados à ao em panorâmicas. incluídos estudos publicados entre 2009 2024, português, inglês ou espanhol, que apresentaram...
Introduçâo: A dor lombar é considerada como causadora de um grande transtorno, interferindo maneira expressiva na saúde populacional mundial, no bem-estar social, assumindo assim o papel do principal causador incapacidade mundo, sendo objetivo analisar artigos publicados com a temática efeitos alongamento terapêutico crônica em mulheres.Método: Foi realizada uma revisão bibliográfica tipo narrativa bases dados eletrônicas reconhecidas Scielo, PubMed, Scopus, Cochrane Library e Web of...
Abstract Background The prevalence of diabetes mellitus is higher in individuals with Down syndrome (DS) than the general population; it may be due to high obesity presented by many them. aim this study was evaluate insulin resistance (IR) using HOMA ( Homeostasis Model Assessment ) method, DS adolescents, describing according sex, body mass index (BMI) and pubertal development. Methods 15 adolescents (8 males 7 females) were studied, aged 10 18 years, without history disease or use...
Vitamins B1, B6 and B12 are members of a group water-soluble organic vitamins with important structural functional roles in the human body. This updated literature review examines physiological biochemical properties these B vitamins.
Single median maxillary central incisor (SMMCI) is a rare anomaly that may occur alone or associated with other conditions, frequently as part of the holoprosencephaly (HPE) spectrum. However, it has been suggested SMMCI alone, some midline defects, be considered different entity from HPE (OMIM: 147250). Families SMMCI, without cases, are difficult to counsel for risk in future generations because same defects described "SMMCI syndrome" can also spectrum.We screened five cases mutations...
Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome, is a rare autosomal recessive disease caused by mutations in either the BSCL2 AGPAT2 genes. This syndrome characterized an almost complete loss of adipose tissue usually diagnosed at birth early infancy resulting apparent muscle hypertrophy. Common clinical features are acanthosis nigricans, hepatomegaly with without splenomegaly and high stature. Acromegaloid features, cardiomyopathy mental retardation can also be...
Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene. The immune inflammatory response also contributes to disease progression DMD patients. In a previous study, we demonstrated higher levels of circulating CD49dhi and CD49ehi T cells patients compared healthy control. are clinically heterogeneous functional defect cannot be correlated with genotype. Therefore, it important able define reliable noninvasive biomarkers better at beginning clinical trials. We studied...
Early dietary treatment of phenylketonuria (PKU), an inborn error phenylalanine (Phe) metabolism, results in normal cognitive development. Although health-related quality life (HRQoL) PKU patients has been reported as unaffected high-income countries, there are scarce data concerning HRQoL and adherence to children adolescents from Brazil. The present study compared scores core dimensions Brazilian early-treated pediatric with those a reference population, explored possible relationships...