A5058856036- Connective tissue disorders research
- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Genomic variations and chromosomal abnormalities
- Lysosomal Storage Disorders Research
- Genetics and Neurodevelopmental Disorders
- BRCA gene mutations in cancer
- Cancer-related gene regulation
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- RNA modifications and cancer
- DNA Repair Mechanisms
- Neurogenetic and Muscular Disorders Research
- Cystic Fibrosis Research Advances
- Glycogen Storage Diseases and Myoclonus
- Spinal Dysraphism and Malformations
- Mitochondrial Function and Pathology
- Bone health and treatments
- Women's cancer prevention and management
- Pharmacology and Obesity Treatment
- Arsenic contamination and mitigation
- Congenital heart defects research
- Vascular Malformations and Hemangiomas
- Bone health and osteoporosis research
- Male Breast Health Studies
- Chromatin Remodeling and Cancer
Fleury S.A. (Brazil)
2017-2024
Hospital Sírio-Libanês
2021-2022
Faculdade de Ciências Médicas da Santa Casa de São Paulo
2022
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2014-2019
Alfred I. duPont Hospital for Children
2012-2018
Universidade de São Paulo
2012-2018
Clinics Hospital of Ribeirão Preto
2012
Abstract Rare diseases comprise a diverse group of conditions, most which involve genetic causes. We describe the variable spectrum findings and clinical impacts exome sequencing (ES) in cohort 500 patients with rare diseases. In total, 164 primary were reported 158 patients, representing an overall diagnostic yield 31.6%. Most (61.6%) corresponded to autosomal dominant followed by recessive (25.6%) X‐linked (12.8%) conditions. These harbored 195 variants, among 43.6% are novel literature....
Paraplegia or death secondary to upper cervical spine instability and spinal cord compression are known consequences of Morquio syndrome. Decompression fusion the indicated treat compression. The purpose this study was report intermediate long-term results in children with syndrome.Twenty patients (nine female eleven male) syndrome who underwent at a mean age sixty-three months were retrospectively analyzed use hospital records. Radiographic clinical reported.The average follow-up period...
Achondroplasia is associated with disproportionate short stature and significant potentially severe medical complications. Vosoritide the first medicine to treat underlying cause of achondroplasia data from phase 3 2 extension studies showed effects on growth body proportions. However, there are currently no long-term available direct impact endpoints such as complications health-related quality life (HRQoL). This study explored perceived complications, HRQoL, healthcare resource use...
ABSTRACT Background: Lactose tolerant test (LTT) is the most broadly used diagnostic for lactose intolerance in Brazil, an indirect, minimally invasive and a low-cost that widely available primary care useful clinical practice. The C/T-13910 polymorphism lactase persistence has been well characterized Caucasian populations, but there are no studies evaluating concordance between genotyping results LTT where population highly mixed. Objective: We aimed to evaluate agreement presence of...
Background: Craniovertebral junction anomalies and C1-C2 instability resulting in myelopathy have been well described the literature on mucopolysaccharidosis IV (MPS-IV). Spinal involvement MPS-IV patients, with neurological impairment, other than atlanto-axial thoracolumbar kyphosis, has scarcely mentioned literature. Methods: Retrospective clinical radiologic review of medical records imaging studies 4 individuals Morquio A syndrome, who had undergone decompression fusion cervicothoracic...
Several Mendelian disorders follow an autosomal recessive inheritance pattern. Epidemiological information on many inherited may be useful to guide health policies for rare diseases, but it is often inadequate, particularly in developing countries. We aimed calculate the carrier frequencies of diseases a cohort Brazilian patients using whole exome sequencing (WES). reviewed molecular findings WES from 320 symptomatic who had status diseases. Using Hardy-Weinberg equation, we estimated...
Next-generation sequencing (NGS) has altered clinical genetic testing by widening the access to molecular diagnosis of genetically determined rare diseases. However, physicians may face difficulties selecting best diagnostic approach. Our goal is estimate rate possible diagnoses missed different targeted gene panels using data from a cohort patients with diseases diagnosed exome (ES). For this purpose, we simulated comparison between and ES: list genes harboring clinically relevant variants...
Abstract Background Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum spinal compression. Additionally, patients affected this condition have higher frequency of sleep disorders, ear infections, hearing loss slowed development milestones. Considering these clinical features, we aimed to summarize regional experts’ recommendations...
Abstract We describe a series of seven male patients from six different families with skeletal dysplasia, characteristic facial features, and developmental delay. Skeletal findings include patellar dislocation, short tubular bones, mild metaphyseal changes, brachymetacarpalia stub thumbs, femoral necks, shallow acetabular roofs, platyspondyly. Facial features include: flattened midface broad nasal bridge, cleft palate or bifid uvula synophrys. All the demonstrated pre‐school onset cognitive...
Breast cancer is the most common among women worldwide, and ovarian difficult gynecological tumor to diagnose with lowest chance of cure. Mutations in BRCA1 BRCA2 genes increase risk by 60% breast up 80% women. Molecular tests allow a better orientation for patients carrying these mutations, affecting prophylaxis, treatment, genetic counseling. Here, we evaluated performance panel BRCA2, using Ion Torrent PGM (Life Technologies) platform customized workflow multiplex ligation-dependent probe...