A5012031787- Glaucoma and retinal disorders
- Retinopathy of Prematurity Studies
- Lysosomal Storage Disorders Research
- Retinal Development and Disorders
- Corneal Surgery and Treatments
- Connexins and lens biology
- Pelvic and Acetabular Injuries
- Orthopaedic implants and arthroplasty
- Retinal Diseases and Treatments
- Ocular Diseases and Behçet’s Syndrome
- Ocular Oncology and Treatments
- Knee injuries and reconstruction techniques
- Wnt/β-catenin signaling in development and cancer
- Genomic variations and chromosomal abnormalities
- Williams Syndrome Research
- Ocular Surface and Contact Lens
- Orthopedic Infections and Treatments
- Connective tissue disorders research
- Glycogen Storage Diseases and Myoclonus
- Trypanosoma species research and implications
- Cytomegalovirus and herpesvirus research
- Skin Protection and Aging
- Blood Pressure and Hypertension Studies
- Bone fractures and treatments
- Platelet Disorders and Treatments
Marche Polytechnic University
2018-2023
Universidade de São Paulo
2012-2023
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2016-2022
Clinical Research Management
2022
Policlinico S.Orsola-Malpighi
2017
Associação Paulista de Medicina
2005
Johns Hopkins University
2004-2005
Universidade Federal de São Paulo
2004
Tufts Medical Center
2001
Primary congenital glaucoma (PCG) is a devastating eye disease and an important cause of childhood blindness worldwide. In PCG, defects in the anterior chamber aqueous humor outflow structures result elevated intraocular pressure (IOP); however, genes molecular mechanisms involved etiology these have not been fully characterized. Previously, we observed PCG-like phenotypes transgenic mice that lack functional angiopoietin-TEK signaling. Herein, identified rare TEK variants 10 189 unrelated...
Primary congenital glaucoma (PCG) is a leading cause of blindness in children worldwide and caused by developmental defects 2 aqueous humor outflow structures, Schlemm's canal (SC) the trabecular meshwork. We previously identified loss-of-function mutations angiopoietin (ANGPT) receptor TEK families with PCG showed that ANGPT/TEK signaling essential for SC development. Here, we describe roles major ANGPT ligands development pathway. determined ANGPT1 development, Angpt1-knockout mice form...
IntroductionTibial spine avulsion fractures are mostly a paediatric injury which appropriate treatment is currently debated in literature. The choice between conservative and surgical based on the radiographic classification of Meyers-McKeever. most diffused techniques involve either internal fixation devices (screws) or bone tunnels with resorbable sutures. Today, third option represented by magnesium screws could combine best features two classical systems. Objective this study to...
Primary congenital glaucoma (PCG), occurs due to the developmental defects in trabecular meshwork and anterior chamber angle children. PCG exhibits genetic heterogeneity CYP1B1 gene has been widely implicated worldwide. Despite diverse mutation spectra, clinical implications of these mutations are yet unclear. The present study attempted delineate profile background from a large cohort 901 subjects India (n=601) Brazil (n=300).Genotype-phenotype correlations was undertaken on clinically well...
Purpose Giant papillae (GP) in patients with vernal keratoconjunctivitis (VKC) refractory to clinical treatment may cause serious corneal complications, such as shield ulcer. We propose a surgical treatment—resection of GP—in conjunction free autologous conjunctival graft treat severe cases VKC GP. Methods Six eyes five VKC, characterized by GP and ulcer treatment, underwent resection associated graft. Results No recurrence over the was observed during follow-up intervals ranging from 9...
Mutations in the MFRP (membrane-type frizzled-related protein) gene leads to an entity characterized by retinitis pigmentosa, nanophthalmos, optic disk drusen, and macular changes, originally described as foveoschisis. Despite association of mutation increase thickness, no treatment modality has been for cystoid edema related this particular so far.In case report, a 52-year-old woman presented with thickness. Genetic analysis revealed mutation. The patient was treated topical carbonic...
Congenital cataracts are clinically and genetically heterogeneous. Loci for autosomal dominant posterior polar have been mapped to chromosomes 1p36, 11q22-q22.3, 16q22, 20p12-q12. We investigated a large four-generation family with 20 individuals affected congenital cataracts. After exclusion of known loci cataracts, genome-wide screen was conducted. In this family, we chromosome 10q24. On haplotype analysis, identified an 11-cM interval between D10S1680 D10S467, which included the PITX3...
Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme Iduronate-2- Sulfatase (IDS), leading to progressive accumulation Glycosaminoglycans (GAGs) in several organs. Over years, Enzyme Replacement Therapy (ERT) has provided significant benefits for patients, retarding natural progression disease. The authors evaluated 17 patients from same family with mild form MPS II; proband had developed acute...
We report a case of retinal and posterior ocular findings in 33-year-old man diagnosed with Hunter syndrome (Mucopolysaccharidosis type II) multimodal imaging way.Our patient was complaining blurred night vision for the past 3 years. He had not received any systemic treatment syndrome. Vision acuity 20/20 both eyes corneas were clear. Fundus examination revealed bilateral crowded hyperemic optic nerve heads (elevated ultrasound) areas subretinal hypopigmentation. There hyperautofluorescence...
Wolf-Hirschhorn syndrome is a developmental disorder associated with hemizygous deletion of the distal short arm chromosome 4. We have identified patient affected and early onset glaucoma. Five other patients glaucoma or ocular anomalies been previously described, suggesting that association not coincidental. The infrequent suggests chromosomal region commonly deleted in does contain genes responsible for In this study, we performed molecular characterization 4 to determine extent an attempt...
Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused follicle abnormalities as well progressive retinal degeneration leading to blindness in the second or third decade of life. It associated mutations cadherin 3 (CDH3) gene, which result abnormal expression P-cadherin. Mutations CDH3 are related ectodermal dysplasia, ectrodactyly, and dystrophy. In this report, we describe an 11-year-old Iranian boy born missing left...
This was a retrospective comparative study.The aim of this study to perform clinical and radiological evaluation the most used techniques for lumbar degenerative disk disease (DDD) treatment: arthrodesis versus dynamic neutralization (DN)-Dynesys stabilization system.The included 58 consecutive patients affected by DDD, 28 treated with rigid 30 DN at our department between 2003 2013. The performed through Visual Analog Scale (VAS) Oswestry Disability Index (ODI). radiographic standard X-ray...
Retrograde intramedullary fixation has been proposed to improve the rate of union providing greater stability in patients with a posterior cruciate ligament retaining femoral TKA component and decreasing soft-tissue trauma. This study assessed clinical radiographical outcome retrograde nailing (RIN) for treatment periprosthetic supracondylar fractures femur an elderly population. Between January 2014 December 2018, 16 PSF underwent RIN. The was evaluated using Knee Society Score (KSS)...
Outcomes in patients with acetabulum fractures are related to many factors, both intrinsic and extrinsic. Intrinsic factors includes age, type of fracture, dislocation the femoral head. Extrinsics include timing reduction, treatment indication, surgical treatment, accuracy fracture joint wear over time. We will evaluate various by analyzing predictability a failure or complication. This work aims highlight critical issues complex such as those resulting outcomes. focus mainly on extrinsic...
Abstract Background: Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate-2- sulfatase (IDS), leading to progressive accumulation glycosaminoglycans (GAGs) in several organs. Over years, Enzyme Replacement Therapy (ERT) has provided significant benefit for patients, retarding natural progression disease. Results: We evaluated 17 patients from same family with mild form MPS II; proband had...