Vanessa Dionisio Cantagalli

Fleury S.A. (Brazil)

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Miguel Srougi

Universidade de São Paulo

Gilka Jorge Fígaro Gattás

Universidade de São Paulo

Kátia Ramos Moreira Leite

Universidade de São Paulo

Pedro Exman

Instituto do Câncer do Estado de São Paulo

Elisa Napolitano Ferreira

Fleury S.A. (Brazil)

Caroline Olivati

Fleury S.A. (Brazil)

Christina Maeda Takiya

Universidade Federal do Rio de Janeiro

Andre Yuji Oku

Fleury S.A. (Brazil)

Abram Beutel

Universidade Federal de São Paulo

Vinícius Ceola Pereira

Fleury S.A. (Brazil)

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Fleury S.A. (Brazil)

Universidade de São Paulo

Universidade Federal de São Paulo

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

Hospital Israelita Albert Einstein

Hospital São Paulo

Fundação de Apoio à Universidade Federal de São Paulo

Instituto do Câncer do Estado de São Paulo

Hospital Sírio-Libanês

Universidade Brasil

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Granulocyte‐macrophage colony‐stimulating factor gene based therapy for acute limb ischemia in a mouse model

The Journal of Gene Medicine (2009)

Chester Bittencourt Sacramento Vanessa Dionisio Cantagalli Mariana Grings Leonardo Pinto de Carvalho José Carlos Costa Baptista‐Silva

Abstract Background Granulocyte‐colony‐stimulating factor (GM‐CSF) is a pleiotropic factor for hematopoiesis that stimulates myeloblasts, monoblasts and mobilization of bone marrow stem cells. Therefore, the GM‐CSF gene is a potential candidate for vessel formation and tissue remodeling in the treatment of ischemic diseases. Methods A new mouse limb ischemia was established by surgery and gene transfer was performed by injection of 100 µg of a plasmid carrying GM‐CSF. Muscle force and weight, histology, capillary density, circulating stem cells and monocytes were determined after 3–4 weeks. Results More than 60% of nontreated ischemic animals showed gangrene below the heel after 4 weeks, whereas the GM‐CSF gene‐treated animals showed only darkening of nails or toes. These animals demonstrated a full recovery of the affected muscles in terms of weight, force and muscle fiber structure, but the muscles of nontreated ischemic animals lost approximately 50% weight, 86% force and their regular structure. When the GM‐CSF gene was injected into the contralateral limb, only partial loss was observed, demonstrating a distant effect of GM‐CSF. The capillary density in the GM‐CSF‐treated group was 52% higher in relation to the nontreated group. Blood analysis by flow cytometry showed that the GM‐CSF ‐treated group had 10–20% higher levels of circulating monocytes and Sca‐1 + . Conclusions We conclude that the direct administration of GM‐CSF gene in limb ischemia had a strong therapeutic effect because it promoted the recovery of muscle mass, force and structure by mobilizing therapeutic cells and augmenting the number of vessels. Copyright © 2009 John Wiley & Sons, Ltd.

10.1002/jgm.1298

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Citations (21)

Quality control of DNA from formalin fixed and paraffin wax embedded prostate biopsy for forensic analysis

Forensic science international. Genetics supplement series (2011)

Vanessa Dionisio Cantagalli Kátia Ramos Moreira Leite Miguel Srougi Gilka Jorge Fígaro Gattás

Paraffin wax

10.1016/j.fsigss.2011.08.019

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Citations (1)

Primary Ovary Choriocarcinoma: Individual DNA Polymorphic Analysis as a Strategy to Confirm Diagnosis and Treatment

Rare Tumors (2013)

Pedro Exman Tiago Kenji Takahashi Gilka F. Gattás Vanessa Dionisio Cantagalli Cristina Antón

Primary choriocarcinoma of the ovary is rare. Furthermore, this tumor can arise from gestational tissue or pure germ cells of the ovary, with the latter resulting in non-gestational choriocarcinoma. While the clinical characteristics and histology of both tumor types are identical, differentiation of these tumors is necessary for effective treatment. One strategy for the differentiation of these tumors types is to assay for the presence of paternal DNA. Accordingly, in the present case, a patient with primary choriocarcinoma of the ovary with a non-gestational origin was confirmed by DNA analysis. The patient subsequently exhibited an excellent response to chemotherapy, and following surgery, achieved complete remission. A pathological analysis of surgical specimens further confirmed the absence of tumor.

Histology

Chorioepithelioma

10.4081/rt.2013.e24

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Citations (19)

Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases

American Journal of Medical Genetics Part C Seminars in Medical Genetics (2020)

Caio Robledo D’Angioli Costa Quaio Caroline Mônaco Moreira Gil Monteiro Novo‐Filho Patricia Rossi Sacramento‐Bobotis Michele Groenner Penna

Abstract Rare diseases comprise a diverse group of conditions, most of which involve genetic causes. We describe the variable spectrum of findings and clinical impacts of exome sequencing (ES) in a cohort of 500 patients with rare diseases. In total, 164 primary findings were reported in 158 patients, representing an overall diagnostic yield of 31.6%. Most of the findings (61.6%) corresponded to autosomal dominant conditions, followed by autosomal recessive (25.6%) and X‐linked (12.8%) conditions. These patients harbored 195 variants, among which 43.6% are novel in the literature. The rate of molecular diagnosis was considerably higher for prenatal samples (67%; 4/6), younger children (44%; 24/55), consanguinity (50%; 3/6), gastrointestinal/liver disease (44%; 16/36) and syndromic/malformative conditions (41%; 72/175). For 15.6% of the cohort patients, we observed a direct potential for the redirection of care with targeted therapy, tumor screening, medication adjustment and monitoring for disease‐specific complications. Secondary findings were reported in 37 patients (7.4%). Based on cost‐effectiveness studies in the literature, we speculate that the reports of secondary findings may influence an increase of 123.2 years in the life expectancy for our cohort, or 0.246 years/cohort patient. ES is a powerful method to identify the molecular bases of monogenic disorders and redirect clinical care.

Exome

10.1002/ajmg.c.31860

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Citations (30)

The potential risk of formalin fixed and paraffin wax embedded prostate biopsies for human identification

Forensic science international. Genetics supplement series (2011)

Gilka Jorge Fígaro Gattás Vanessa Dionisio Cantagalli Kátia Ramos Moreira Leite Miguel Srougi

Paraffin wax

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10.1016/j.fsigss.2011.08.020

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