Maria Cristina Foss‐Freitas
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View article: SUN-642 Mortality Outcomes in Patients with Lipodystrophy: Key Insights from the LD-Lync Study
SUN-642 Mortality Outcomes in Patients with Lipodystrophy: Key Insights from the LD-Lync Study Open
Disclosure: M. Celik Guler: None. O. Besci: None. M.C. Foss de Freitas: None. M. Yosef: None. S. Khalatbari: None. M. Ashmus: None. D. Guler: None. D. Gilio: None. D. Kaba: None. C. Uwandu: None. A. Dill Gomes: None. R. Tuska: None. M. Bru…
View article: MON-571 Unusual presentation of mitochondrial disease with diabetes, lipomatosis, and metabolic dyslipidemia: clinical lessons to recognize phenotype for the endocrinologist
MON-571 Unusual presentation of mitochondrial disease with diabetes, lipomatosis, and metabolic dyslipidemia: clinical lessons to recognize phenotype for the endocrinologist Open
Disclosure: O. Besci: None. C.D. Uwandu: None. M.C. Foss de Freitas: None. C.L. Chase: None. K.N. Lee: None. E.A. Oral: Regeneron Pharmaceuticals, Rejuvenate Bio., Novo Nordisk, Morphic Medical, Marea Therapeutics, Ionis Pharmaceuticals In…
View article: SUN-639 A Novel Truncating EBF2 Variant Impairs White Adipocyte Function in A Dominant Negative Manner
SUN-639 A Novel Truncating EBF2 Variant Impairs White Adipocyte Function in A Dominant Negative Manner Open
Disclosure: D. Gilio: None. M.C. Foss de Freitas: None. E.A. Oral: Regeneron Pharmaceuticals, Amryt Pharmaceuticals, Ionis Pharmaceuticals Inc., Third Rock Ventures, Rejuvenate Bio, Novo Nordisk, Rhythm Pharmaceuticals, Fractyl Laboratorie…
View article: MON-721 Exploring MRI quantification techniques for phenotypes of adiposity: data from a clinical trial of metreleptin to treat Madelung’s disease
MON-721 Exploring MRI quantification techniques for phenotypes of adiposity: data from a clinical trial of metreleptin to treat Madelung’s disease Open
Disclosure: A. Dill Gomes: None. M.C. Foss de Freitas: None. N. Shah: None. R. Meral: None. T. Chenevert: None. E.A. Oral: Regeneron Pharmaceuticals, Amryt Pharmaceuticals, Chiesi Rare Disease Group, Marea Therapeutics, Rejuvenate Bio, Fra…
View article: SUN-644 Pharmacological Approaches in Lipodystrophy: Concomitant Medication and Metreleptin Therapy Use in the Participants of LD-Lync Study
SUN-644 Pharmacological Approaches in Lipodystrophy: Concomitant Medication and Metreleptin Therapy Use in the Participants of LD-Lync Study Open
Disclosure: M. Celik Guler: None. M.C. Foss de Freitas: None. M. Yosef: None. S. Khalatbari: None. M. Ashmus: None. D. Guler: None. D. Gilio: None. D. Kaba: None. A. Dill Gomes: None. C. Uwandu: None. M. Brush: None. R. Tuska: None. T. Nea…
View article: MON-699 RNA-Seq Meta-Analysis of the EBF2 p.E165X Variant in Lipodystrophy Implicates the Role of EBF2 in Mesoderm Induction and Adipogenesis
MON-699 RNA-Seq Meta-Analysis of the EBF2 p.E165X Variant in Lipodystrophy Implicates the Role of EBF2 in Mesoderm Induction and Adipogenesis Open
Disclosure: M.C. Foss de Freitas: None. A.M. da Rocha: None. D. Gilio: None. E.A. Oral: Regeneron Pharmaceuticals, Chiesi Rare Disease Group, Amryt Pharmaceuticals, Marea Therapeutics, Fractyl Laboratories, Rejuvenate Bio, Ionis Pharmaceut…
View article: SUN-645 Leptin- And Incretin-based Combination Therapy In Lipodystrophy: A Promising Metabolic Strategy?
SUN-645 Leptin- And Incretin-based Combination Therapy In Lipodystrophy: A Promising Metabolic Strategy? Open
Disclosure: M. Celik Guler: None. R. Meral: None. M. Lightbourne: None. O. Besci: None. A. Neidert: None. M.C. Foss de Freitas: None. R.J. Brown: Pfizer, Inc., Regeneron Pharmaceuticals, Chiesi Farmaceutici, Marea Therapeutics. E.A. Oral: …
View article: Clinical Guidance for Lipodystrophy Syndromes: From Diagnosis and Work-Up to Treatment
Clinical Guidance for Lipodystrophy Syndromes: From Diagnosis and Work-Up to Treatment Open
Purpose of Review The goal of this review is to address the challenges in diagnosing and managing lipodystrophy syndromes. Recent Findings Clinical and metabolic assessments, along with genetic analyses, are essential for tailoring medical…
View article: Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome
Potential Impact of Parental Origin of Inheritance on the Clinical Presentation of Familial Partial Lipodystrophy Type 2 Syndrome Open
Context Familial partial lipodystrophy type 2 (FPLD2) is a rare autosomal dominant disorder caused by pathogenic variants in the LMNA gene. The influence of parental inheritance on clinical presentation has not been fully explored. Objecti…
View article: Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program
Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program Open
Context Rare monogenic conditions that predispose to diabetes can be misdiagnosed due to phenotypic overlap with more common conditions. Misdiagnosis can lead to ineffective, over-, or under-treatment. Specific genetic mechanisms can direc…
View article: Brazilian expert consensus on the diagnosis, classification, screening for complications and treatment of familial partial lipodystrophy
Brazilian expert consensus on the diagnosis, classification, screening for complications and treatment of familial partial lipodystrophy Open
Background Partial lipodystrophies are a rare and heterogeneous group of diseases characterized by variable loss of adipose tissue. Around the world, the high heterogeneity in phenotypic expression, limited awareness, and absence of standa…
View article: GLP-1 RA and dual GIP/GLP-1 RA treatment in MODY: a descriptive case series
GLP-1 RA and dual GIP/GLP-1 RA treatment in MODY: a descriptive case series Open
Introduction Glucagon-like peptide-1 receptor agonists (GLP-1 RA) and dual glucose insulinotropic polypeptide (GIP)/GLP-1 RA are widely prescribed, but their effectiveness in different subtypes of maturity-onset diabetes of the young (MODY…
View article: <b>Metabolic Improvements with Tirzepatide in Lipodystrophy: A Novel Option?</b>
<b>Metabolic Improvements with Tirzepatide in Lipodystrophy: A Novel Option?</b> Open
Objective: Lipodystrophy encompasses a group of rare disorders associated with severe metabolic disease. These disorders are defined by abnormal fat distribution, with near-total (generalized lipodystrophy, GL) or partial (partial lipodyst…
View article: <b>Metabolic Improvements with Tirzepatide in Lipodystrophy: A Novel Option?</b>
<b>Metabolic Improvements with Tirzepatide in Lipodystrophy: A Novel Option?</b> Open
Objective: Lipodystrophy encompasses a group of rare disorders associated with severe metabolic disease. These disorders are defined by abnormal fat distribution, with near-total (generalized lipodystrophy, GL) or partial (partial lipodyst…
View article: Lipodystrophy Severity Score to Assess Disease Burden in Lipodystrophy
Lipodystrophy Severity Score to Assess Disease Burden in Lipodystrophy Open
Context Lipodystrophy syndromes are rare disorders characterized by deficient adipose tissue, leading to insulin resistance, dyslipidemia, and organ system abnormalities. Objective Our goal was to develop a lipodystrophy severity score (LD…
View article: Endoplasmic reticulum stress in the salivary glands of patients with primary and associated Sjögren’s disease, and non-Sjögren’s sicca syndrome: a comparative analysis and the influence of chloroquine
Endoplasmic reticulum stress in the salivary glands of patients with primary and associated Sjögren’s disease, and non-Sjögren’s sicca syndrome: a comparative analysis and the influence of chloroquine Open
Altogether, the results suggest a greater activation of the ERS and UPR genes in patients with SD, especially in the pSD group. Antimalarial drugs, like CQ, used to treat RAD, may affect the ER function in exocrine glands.
View article: 6887 Unraveling the Natural History of Lipodystrophy Syndromes with LD LYNC: Time to Development of Important Comorbidities
6887 Unraveling the Natural History of Lipodystrophy Syndromes with LD LYNC: Time to Development of Important Comorbidities Open
Disclosure: M. Celik Guler: None. M.C. Foss de Freitas: Advisory Board Member; Self; PTC Therapeutics. Speaker; Self; Amryt. M. Yosef: None. S. Khalatbari: None. D. Kaba: None. M. Ashmus: None. D. Guler: None. D. Gilio: None. A. Dill Gomes…
View article: 6989 Novel Use of Dual GIP/GLP-1 Receptor Agonist in HNF4A-MODY
6989 Novel Use of Dual GIP/GLP-1 Receptor Agonist in HNF4A-MODY Open
Disclosure: A. Mehdi: None. M.C. Foss de Freitas: Advisory Board Member; Self; PTC Pharmaceuticals. Other; Self; Scientific presenter in a symposium funded by Amryt Pharmaceuticals. C.L. Martin: None. B.E. Gregg: None. N. Nachawi: None. E.…
View article: 6889 Potential Impact of Parental Origin of Inheritance in Presentation of Familial Partial Lipodystrophy
6889 Potential Impact of Parental Origin of Inheritance in Presentation of Familial Partial Lipodystrophy Open
Disclosure: D. Gilio: None. M.C. Foss de Freitas: Advisory Board Member; Self; PTC Therapeutics. Speaker; Self; Amryt. O. Besci: None. M. Celik Guler: None. A. Neidert: None. I. Yildirim: None. B. Akinci: Advisory Board Member; Self; Amryt…
View article: 7255 Tirzepatide Helps Achieve Glycemic Control and Lower Triglycerides in Seven Patients with Lipodystrophy
7255 Tirzepatide Helps Achieve Glycemic Control and Lower Triglycerides in Seven Patients with Lipodystrophy Open
Disclosure: R. Meral: None. E.D. Frontera: None. M. Celik Guler: None. M.C. Foss de Freitas: None. N. Nachawi: None. D.T. Broome: Consulting Fee; Self; Tayco, Inc.. Research Investigator; Self; Novo Nordisk, Fractyl Laboratories, Rhythm Ph…
View article: 12436 Madelung’S Multiple Symmetric Lipomatosis: A New Indication For Leptin Pathway Activation?
12436 Madelung’S Multiple Symmetric Lipomatosis: A New Indication For Leptin Pathway Activation? Open
Disclosure: M.C. Foss de Freitas: Advisory Board Member; Self; PTC Therapeutics. Consulting Fee; Self; Aegerion Pharmaceuticals. A. Dill Gomes: None. R. Schill: None. B.M. Obua: None. D. Kaba: None. S. Verma: None. M. Celik Guler: None. D.…
View article: 7654 Unusual Case of Lipodystrophy: A Novel Disease Phenotype?
7654 Unusual Case of Lipodystrophy: A Novel Disease Phenotype? Open
Disclosure: M. Celik Guler: None. E.D. Frontera: None. K. Hoose: None. M.C. Foss de Freitas: Advisory Board Member; Self; PTC Therapeutics. Speaker; Self; Amryt. L. Douyon: None. E.A. Oral: Advisory Board Member; Self; Amryt, Regeneron Pha…
View article: 6946 Predictors of Psychosocial Burden and Pain in Lipodystrophy Syndromes
6946 Predictors of Psychosocial Burden and Pain in Lipodystrophy Syndromes Open
Disclosure: M. Celik Guler: None. M.C. Foss de Freitas: Advisory Board Member; Self; PTC Therapeutics. Speaker; Self; Amryt. M. Yosef: None. S. Khalatbari: None. D. Kaba: None. M. Ashmus: None. D. Guler: None. D. Gilio: None. A. Dill Gomes…
View article: Tirzepatide for Lipodystrophy
Tirzepatide for Lipodystrophy Open
Background Lipodystrophy encompasses a group of rare disorders associated with severe metabolic disease. These disorders are defined by abnormal fat distribution, with near-total (generalized lipodystrophy, GL) or partial (partial lipodyst…