16 results on '"Priscila Regina Orso Rebellato"'
Search Results
2. Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort
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Laire Schidlowski, Fernando Liebert, Pérola Grupenmacher Iankilevich, Priscila Regina Orso Rebellato, Rafaela Andrade Rocha, Nadia Aparecida Pereira Almeida, Aayushee Jain, Yiming Wu, Yuval Itan, Roberto Rosati, and Carolina Prando
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oculocutaneous albinism ,melanogenesis ,sequencing ,exome ,TYR ,SLC45A2 ,Genetics ,QH426-470 - Abstract
Oculocutaneous albinism (OCA) is a genetic disorder characterized by skin, hair, and eye hypopigmentation due to a reduction or absence of melanin. Clinical manifestations include vision problems and a high susceptibility to skin cancer. In its non-syndromic form, OCA is associated with six genes and one chromosomal region. Because OCA subtypes are not always clinically distinguishable, molecular analysis has become an important tool for classifying types of OCA, which facilitates genetic counseling and can guide the development of new therapies. We studied eight Brazilian individuals aged 1.5–18 years old with clinical diagnosis of OCA. Assessment of ophthalmologic characteristics showed results consistent with albinism, including reduced visual acuity, nystagmus, and loss of stereoscopic vision. We also observed the appearance of the strabismus and changes in static refraction over a 2-year period. Dermatologic evaluation showed that no participants had preneoplastic skin lesions, despite half of the participants reporting insufficient knowledge about skin care in albinism. Whole-exome and Sanger sequencing revealed eight different mutations: six in the TYR gene and two in the SLC45A2 gene, of which one was novel and two were described in a population study but were not previously associated with the OCA phenotype. We performed two ophthalmological evaluations, 2 years apart; and one dermatological evaluation. To the best of our knowledge, this is the first study to perform clinical follow-up and genetic analysis of a Brazilian cohort with albinism. Here, we report three new OCA causing mutations.
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- 2020
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3. Aumento do volume labial com o uso de toxina botulínica
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Camila Araujo Scharf Pinto, Priscila Regina Orso Rebellato, Juliano Vilaverde Schmitt, and Deborah Skusa de Torre
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lábio ,toxinas botulínicas tipo a ,toxinas botulínicas ,Dermatology ,RL1-803 - Abstract
Introdução: A aplicação da toxina botulínica na região perioral é procedimento minimamente invasivo que permite melhora substancial nos sinais de envelhecimento e aumento do volume dos lábios, com pouca documentação ainda na literatura. Objetivo: Avaliar alterações na forma e volume dos lábios com aplicações de toxina botulínica nas linhas periorais bem como a satisfação do paciente. Métodos: 19 pacientes submeteram-se a análise, registro fotográfico e medições seguidos de aplicação de toxina botulínica na região perioral. Posteriormente, foram avaliados quanto a alterações labiais e satisfação. Resultados: A maioria dos pacientes considerou os lábios moderada ou significativamente mais atraentes após a toxina (p = 0,039), e 15 mulheres notaram a mudança do lábio como um dos principais contribuintes para a melhoria global da face. Conclusões: A aplicação de toxina botulínica na região perioral provoca elevação do lábio superior, levando ao encurtamento do filtro e extensão do vermelhão. Ao aplicar a toxina na borda do vermelhão, permitimos o relaxamento do músculo orbicular, favorecendo maior efeito do tônus muscular dos músculos de elevação do lábio superior. A satisfação das pacientes com a aparência dos lábios avaliada pelas quatro perguntas adicionais (forma, volume, atração e beleza) foi positiva, com efeitos colaterais mínimos.
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- 2017
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4. Syndrome in question
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Priscila Regina Orso Rebellato, Camila Makino Rezende, Eveline Roesler Battaglin, Brunno Zeni de Lima, and Jose Fillus Neto
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Edema ,Erythema ,Face ,Dermatology ,RL1-803 - Abstract
Abstract: Morbihan Syndrome is a rare entity with unknown etiology. It is clinically characterized by chronic erythematous edema on the face - especially in the middle and upper third of the face - and creates abnormal facial contours that are initially intermitent but become permanent with the development of the syndrome. The histopathology is nonspecific and its therapy is a major challenge due to poor response to the various treatment options. We present the case of a male patient with a five-month-history of disease.
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- 2015
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5. Do you know this syndrome? Clouston syndrome
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Sarah Sanches, Priscila Regina Orso Rebellato, Andréa Buosi Fabre, and Giovana Liz Marioto de Campos
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Palmoplantar keratoderma ,Ectodermal dysplasia ,Hypotrichosis ,Dermatology ,RL1-803 - Abstract
Abstract Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The nails become thickened and dystrophic, which is an essential characteristic of the syndrome. The diagnosis is made based on clinical findings. This study reports a case of a patient who began with changes in hair, nails and palmoplantar keratoderma in early childhood.
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- 2017
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6. A case of benign hereditary telangiectasia without family history
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Priscila Regina Orso Rebellato, Luis Eduardo Agner Machado Martins, Bruno Tadeu Stella, and Michelle Cristine Tokarski
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Dermatology ,RL1-803 - Published
- 2017
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7. Case for diagnosis. Lichen myxedematosus
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Priscila Regina Orso Rebellato, Mauren Beatriz Frazon Carbonar, Nicole Iasmin Magario Tabuti, and Graziela Junges Crescente Rastelli
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Mucinoses ,Paraproteinemia, Scleromyxedema ,Dermatology ,RL1-803 - Abstract
Abstract Scleromyxedema or lichen myxedematosus is a rare papular mucinosis of chronic and progressive course and unknown etiology. It is commonly associated with monoclonal gammopathy and may show extracutaneous manifestations, affecting the heart, lung, kidney, and nerves. The diagnosis is based on four criteria: generalized papular and sclerodermoid lesions; mucin deposition, fibroblast proliferation, and fibrosis in the histopathology; monoclonal gammopathy; and no thyroid disorders. This article reports the case of a scleromyxedema patient with a recent history of acute myocardial infarction and monoclonal gammopathy.
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- 2016
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8. Calcium hydroxylapatite for collagen biostimulation in the neck
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Juliano Vilaverde Schmitt, Priscila Regina Orso Rebellato, Graziela Junges Crescente Rastelli, Deborah Skusa de Torre, and Cinthia Regina Medaglia
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Biostimulation ,medicine.medical_specialty ,Endocrinology ,Chemistry ,Internal medicine ,medicine ,Calcium hydroxylapatite - Published
- 2020
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9. O papel do uso de tecnologias combinadas na abordagem de uma paciente com microstomia
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Layla Comel Corso Perito de Bem, Karina Bittencourt Medeiros, Priscila Regina Orso Rebellato, and Juliana Merheb Jordão
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Laser therapy ,Microstomia ,business.industry ,medicine ,Intense Pulsed Light Therapy ,Combined Modality Therapy ,Surgery ,Dermatology ,medicine.disease ,Nuclear medicine ,business - Published
- 2021
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10. EXANTEMA PERIFLEXURAL ASSIMÉTRICO: VOCÊ CONHECE ESTA DOENÇA?
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Isadora Olenscki Gilli, Nadia Aparecida Pereira de Almeida, Maraya Annaai Michels Mainardi, and Priscila Regina Orso Rebellato
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- 2021
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11. Randomized, double-blind, placebo-controlled split-face trial of the efficacy of tranexamic acid by drug delivery through microneedling in the treatment of melasma
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Adriane Costa, Priscila Regina Orso Rebellato, Juliano Vilaverde Schmitt, Giovana Liz Marioto de Campos, Luciana Rodrigues Lisboa Faucz, Dâmia Kuster Kaminski Arida, Thelma Larocca Skare, Universidade Estadual Paulista (UNESP), and Hospital Universitário Evangélico Mackenzie
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medicine.medical_specialty ,Melasma ,Dermatology ,Placebo ,Administration, Cutaneous ,Melanosis ,tranexamic acid ,law.invention ,Double blind ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Randomized controlled trial ,Double-Blind Method ,law ,Medicine ,Humans ,melasma ,business.industry ,Significant difference ,medicine.disease ,Pharmaceutical Preparations ,Tranexamic Acid ,030220 oncology & carcinogenesis ,Drug delivery ,drug delivery ,randomized controlled trial ,Entire face ,business ,microneedling ,Tranexamic acid ,medicine.drug - Abstract
Made available in DSpace on 2022-04-29T08:29:54Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-01-01 Background: Melasma is a prevalent skin pigmentation disorder that is difficult to treat. Tranexamic acid (TA) is a potential agent, but there are few studies on its effectiveness under the transdermal route (drug delivery—Dd). One of these Dd pathways is through microneedling, which seems to be effective itself. Objective: To evaluate the efficacy of tranexamic acid when applied in the form of drug delivery through microneedling in the treatment of facial melasma. Methods: A randomized controlled double-blind split-face trial with 3 monthly sessions in 20 melasma patients: microneedling was performed in the entire face, and then TA solution was applied to one hemiface and placebo to the other. The effectiveness was measured using Hemi-MASI (Melasma Area and Severity Index), images pixels, and perceptions of experts and patients. Results: Hemi-MASI regressed 22% in control and 29% in TA side. A good/better improvement was found in 37.5% of the control and 42.5% of TA by the experts and 60% of the patients for both sides. Pixels increased by 5 and 7, respectively. In none of these criteria, there was a significant difference between the sides. Conclusion: Tranexamic acid in drug delivery through microneedling did not bring additional benefit to the treatment of melisma. Department of Dermatology of Hospital Universitário Evangélico Mackenzie Department of Dermatology of Universidade Estadual Paulista Júlio de Mesquita Filho Advisor of Graduate Program of Instituto de Pesquisas Médicas (IPEM) Hospital Universitário Evangélico Mackenzie Department of Dermatology of Universidade Estadual Paulista Júlio de Mesquita Filho
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- 2021
12. Energy-based devices for treatment of melasma
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Priscila Regina Orso Rebellato and Juliana Merheb Jordão
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medicine.medical_specialty ,business.industry ,Melasma ,Lasers ,lcsh:Surgery ,lcsh:RD1-811 ,lcsh:RL1-803 ,medicine.disease ,Dermatology ,Clinical Practice ,melasma treatment ,Laser therapy ,Maintenance therapy ,Energy based ,lcsh:Dermatology ,Medicine ,sense organs ,business ,Pigmentation disorder - Abstract
Melasma, as a pigmentation disorder, induces significant stress to the patients and its recurrent nature remains a challenge in clinical practice. Treatment is based on a variety of mechanisms to prevent and/or stop the pigment production process by destroying the deposited pigment for removal or release, by peeling cells to improve their turnover, and by reducing inflammation. The use of appropriate devices and correct settings are crucial in the treatment of melasma. Cases unresponsive to topical bleaches or chemical peels should be referred for laser therapy. It is important that a maintenance therapy to avoid the recurrence of melasma be indicated. In this paper, we review energy-based devices for melasma treatment.
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- 2017
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13. Do you know this syndrome? Clouston syndrome
- Author
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Giovana Liz Marioto de Campos, Priscila Regina Orso Rebellato, Andréa Buosi Fabre, and Sarah Sanches
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Syndrome in Question ,Ectodermal dysplasia ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Clouston syndrome ,Dermatology ,Hypotrichosis ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,medicine ,otorhinolaryngologic diseases ,Palmoplantar keratoderma ,Keratoderma ,skin and connective tissue diseases ,NAIL DYSTROPHY ,integumentary system ,business.industry ,Genodermatosis ,medicine.disease ,030220 oncology & carcinogenesis ,RL1-803 ,business - Abstract
Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The nails become thickened and dystrophic, which is an essential characteristic of the syndrome. The diagnosis is made based on clinical findings. This study reports a case of a patient who began with changes in hair, nails and palmoplantar keratoderma in early childhood.
- Published
- 2017
14. A case of benign hereditary telangiectasia without family history*
- Author
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Michelle Cristine Tokarski, Priscila Regina Orso Rebellato, Luis Eduardo Agner Machado Martins, and Bruno Tadeu Stella
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medicine.medical_specialty ,business.industry ,Dermatology ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,030220 oncology & carcinogenesis ,RL1-803 ,Medicine ,Letters ,medicine.symptom ,Family history ,business ,Telangiectasia - Published
- 2017
15. Trichloroacetic acid peeling in the treatment of actinic melanosis in the back of the hands: a comparative randomized study between two vehicles
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Priscila Regina Orso Rebellato, Camila Araújo Scharf Pinto, Juliano Vilaverde Schmitt, and Luciana Rodrigues Lisboa Faucz
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medicine.medical_specialty ,business.industry ,Medical evaluation ,Dermatology ,medicine.disease ,law.invention ,Melanosis ,Surgery ,Randomized controlled trial ,law ,Medicine ,business ,Adverse effect - Abstract
Introducao: actinic melanosis is a pigmentation disorder caused by the cumulative action of sunlight on the skin and its incidence increases with advancing age. Objective: Considering the lack of studies comparing agents with the same concentration, however in different vehicles, the authors compared the clinical effects of chemical peelings performed with 20% trichloroacetic acid (ATA) paste or solution in the treatment of actinic melanoses in the back of the hands. Methods: A prospective, controlled, randomized study was carried out with 15 patients bearers of bilateral actinic melanoses on the back of the hands. Three monthly sessions with 20% ATA peelings were performed with paste in one hand and solution in the other. The degree of whitening was evaluated by 13 blinded dermatologists, and patients were asked about the satisfaction and preferred method. Results: There was no preference for any of the methods used (p = 0.41), however, according to the medical evaluation, there was greater whitening with the paste (p = 0.01). Only the paste caused significant adverse effects, affecting 4/15 patients. Conclusions: Compared to the solution, when applied for two minutes in the treatment of actinic melanosis, the 20% ATA paste had greater whitening capacity, however demonstrated a tendency to cause more local adverse effects
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- 2015
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16. Case for diagnosis. Lichen myxedematosus*
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Nicole Iasmin Magario Tabuti, Priscila Regina Orso Rebellato, Graziela Junges Crescente Rastelli, and Mauren Beatriz Frazon Carbonar
- Subjects
medicine.medical_specialty ,Pathology ,Lung ,Mucinoses ,business.industry ,Thyroid ,Dermatology ,medicine.disease ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Lichen myxedematosus ,0302 clinical medicine ,medicine.anatomical_structure ,Fibrosis ,RL1-803 ,030220 oncology & carcinogenesis ,Scleromyxedema ,Etiology ,Medicine ,Histopathology ,Paraproteinemia, Scleromyxedema ,What Is Your Diagnosis? ,business ,Papular mucinosis - Abstract
Scleromyxedema or lichen myxedematosus is a rare papular mucinosis of chronic and progressive course and unknown etiology. It is commonly associated with monoclonal gammopathy and may show extracutaneous manifestations, affecting the heart, lung, kidney, and nerves. The diagnosis is based on four criteria: generalized papular and sclerodermoid lesions; mucin deposition, fibroblast proliferation, and fibrosis in the histopathology; monoclonal gammopathy; and no thyroid disorders. This article reports the case of a scleromyxedema patient with a recent history of acute myocardial infarction and monoclonal gammopathy.
- Published
- 2016
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