Laura Machado Lara Carvalho

Universidade de São Paulo

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Trends

Author Order

Document Type

Co-Authors

Ana Cristina Victorino Krepischi

Universidade de São Paulo

Carla Rosenberg

Universidade de São Paulo

Karina Braga Gomes

Universidade Federal de Minas Gerais

Cláudia N. Ferreira

University of Haifa

Silvia Souza da Costa

Universidade de São Paulo

Fernando M. Reis

Universidade Federal de Minas Gerais

Ana Lúcia Cândido

Universidade Federal de Minas Gerais

Débora Romeo Bertola

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

Lucas Santos Souza

Universidade de São Paulo

Marília O. Scliar

Universidade de São Paulo

Cooperative Institutions

Universidade de São Paulo

Universidade Federal de Minas Gerais

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

Instituto Biológico

Universidade Estadual Paulista (Unesp)

Instituto de Geociencias

Universidade Brasil

Hospital Universitário da Universidade de São Paulo

Brazilian Biosciences National Laboratory

Universidade Estadual de Campinas (UNICAMP)

Author Statistics

Papers

Citation

H-Index

i-10 index

Research Field

Development of esthetic prosthesis for a patient with severe stigmatizing facial lesions due to cancer: a pilot study

Supportive Care in Cancer (2018)

Douglas Jordan-Ribeiro Laura Machado Lara Carvalho Raquel Vilela Dayse Danielle Rocha Paula Lopes Ruas

Pain medicine

10.1007/s00520-018-4213-2

Cite

Citations (3)

Polycystic Ovary Syndrome as a systemic disease with multiple molecular pathways: a narrative review

Endocrine Regulations (2018)

Laura Machado Lara Carvalho Fernando M. Reis Ana Lúcia Cândido Fernanda Freire Campos Nunes Cláudia N. Ferreira

Abstract Polycystic Ovary Syndrome (PCOS) is characterized by hyperandrogenism, amenorrhea, and polycystic ovaries. This endocrinopathy is associated with many metabolic disorders such as dyslipidemia and insulin resistance, with increased risk of type 2 diabetes mellitus, metabolic syndrome, and cardiovascular complications. Inflammation is likely to play an important role in the promoting these metabolic imbalances, while prothrombotic and pro-oxidative mechanisms further contribute to the cardiovascular risk of these patients. The etiology of PCOS is still not fully understood, but there is evidence of genetic and environmental components. This review aims to discuss some molecular pathways associated with PCOS that could contribute to the better understanding about this syndrome. Recent evidence suggests that intrauterine exposure of female mice to an excess of anti-Müllerian hormone may induce PCOS features in their post-natal life. High cytokine levels and cytokine gene polymorphisms also appear to be associated with the pathophysiology of PCOS. Furthermore, high levels of microparticles may contribute to the altered hemostasis and enhanced inflammation in PCOS. All these mechanisms may be relevant to clarify some aspects of PCOS pathogenesis and inspire new strategies to prevent the syndrome as well as treat its symptoms and mitigate the risk of long-term complications.

Hyperandrogenism

Dyslipidemia

Pathogenesis

Anovulation

10.2478/enr-2018-0026

Cite

Citations (38)

Two novel pathogenic variants in MED13L: one familial and one isolated case

Journal of Intellectual Disability Research (2021)

Laura Machado Lara Carvalho Silvia Souza da Costa Francine Campagnari Arthur Kaufman Débora Romeo Bertola

Abstract Background Genetic variants involving the MED13L gene can lead to an autosomal dominant syndrome characterised by intellectual disability/developmental delay and facial dysmorphism. Methods We investigated two cases (one familial and one isolated) of intellectual disability with speech delay and dysmorphic facial features by whole‐exome sequencing analyses. Further, we performed a literature review about clinical and molecular aspects of MED13L gene and syndrome. Results Two MED13L variants have been identified [ MED13L (NM_015335.5):c.4417C>T and MED13L (NM_015335.5):c.2318delC] and were classified as pathogenic according to the ACMG (American College of Medical Genetics and Genomics) guidelines. One of the variants was present in sibs. Conclusions The two pathogenic variants identified have not been previously reported. Importantly, this is the first report of a familial case of MED13L nonsense mutation. Although the parents of the affected children were no longer available for analysis, their apparently normal phenotypes were surmised from familial verbal descriptions corresponding to normal mental behaviour and phenotype. In this situation, the familial component of mutation transmission might be caused by gonadal mosaicism of a MED13L mutation in a gonad from either the father or the mother. The case reports and the literature review presented in this manuscript can be useful for genetic counselling.

Medical genetics

Nonsense

Exome

10.1111/jir.12891

Cite

Citations (8)

EHMT2 as a Candidate Gene for an Autosomal Recessive Neurodevelopmental Syndrome

Molecular Neurobiology (2024)

Laura Machado Lara Carvalho Jessica Rzasa Jennifer Kerkhof Haley McConkey Veniamin Fishman

Loss function

Exome

10.1007/s12035-024-04655-x

Cite

Citations (0)

Microparticles: Inflammatory and haemostatic biomarkers in Polycystic Ovary Syndrome

Molecular and Cellular Endocrinology (2017)

Laura Machado Lara Carvalho Cláudia N. Ferreira M.O. Sóter Mariana F. Sales Kathryna F. Rodrigues

Polycystic Ovary Syndrome (PCOS) is associated with a chronic low-grade inflammation and predisposition to hemostatic and atherosclerotic complications. This case-control study evaluated the microparticles (MPs) profile in patients with the PCOS and related these MPs to clinical and biochemical parameters. MPs derived from platelets (PMPs), leuckocytes (LMPs) and endothelial cells (EMPs) were evaluated, as well as MPs expressing tissue factor (TFMPs), by flow cytometry, comparing women with PCOS (n = 50) and a healthy control group (n = 50). PCOS women presented increased total MPs, PMPs, LMPs and EMPs levels when compared to control group (all p < 0.05). TFMPs was similar between the groups (p = 0.379). In conclusion, these MPs populations could be useful biomarkers for association with thrombosis and cardiovascular disease in PCOS women.

10.1016/j.mce.2017.01.017

Cite

Citations (30)

Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies

Pediatric Research (2024)

Gustavo Dib Dangoni Anne Caroline Barbosa Teixeira Silvia Souza da Costa Marília O. Scliar Laura Machado Lara Carvalho

Pediatric cancer

10.1038/s41390-023-03000-7

Cite

Citations (2)

A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review

Obesity Research & Clinical Practice (2021)

Laura Machado Lara Carvalho Carla S. D’Angelo Zan Mustacchi Israel Tojal da Silva Ana Cristina Victorino Krepischi

Macrocephaly

Proband

Speech delay

Frontal Bossing

10.1016/j.orcp.2021.01.001

Cite

Citations (13)

Induced degeneration and regeneration in aged muscle reduce tubular aggregates but not muscle function

Frontiers in Neurology (2024)

Felipe Tadeu Galante Rocha de Vasconcelos Antonio Fernando Ribeiro Júnior Brandow Willy Souza Isabela de Aquino Zogbi Laura Machado Lara Carvalho

Introduction Tubular aggregates (TA) are skeletal muscle structures that arise from the progressive accumulation of sarcoplasmic reticulum proteins. Cytoplasmic aggregates in muscle fibers have already been observed in mice and humans, mainly during aging and muscle disease processes. However, the effects of muscle regeneration on TA formation have not yet been reported. This study aimed to investigate the relationship between degeneration/regeneration and TA in aged murine models. We investigated the presence and quantity of TA in old males from two murine models with intense muscle degeneration and regeneration. Methods One murine lineage was a Dmd mdx model of Duchenne muscular dystrophy ( n = 6). In the other model, muscle damage was induced by electroporation in C57BL/6J wild-type mice, and analyzed after 5, 15, and 30 days post-electroporation (dpe; n = 15). Regeneration was evaluated based on the quantity of developmental myosin heavy chain (dMyHC)-positive fibers. Results The frequency of fibers containing TA was higher in aged C57BL/6J (26 ± 8.3%) than in old dystrophic Dmd mdx mice (2.4 ± 2%). Comparing the data from induced degeneration/regeneration in normal mice revealed a reduced proportion of TA-containing fibers after 5 and 30 dpe. Normal aged muscle was able to regenerate and form dMyHC+ fibers, mainly at 5 dpe (0.1 ± 0.1 vs. 16.5 ± 2.6%). However, there was no difference in force or resistance between normal and 30 dpe animals, except for the measurements by the Actimeter device, which showed the worst parameters in the second group. Discussion Our results suggest that TA also forms in the Dmd mdx muscle but in smaller amounts. The intense degeneration and regeneration of the old dystrophic model resulted in the generation of new muscle fibers with a lower quantity of TA. Data from electroporated wild-type mice support the idea that muscle regeneration leads to a reduction in the amount of TA. We suggest that TA accumulates in muscle fibers throughout physiological aging and that regeneration leads to the formation of new fibers without these structures. In addition, these new fibers do not confer functional benefits to the muscle.

Degeneration (medical)

mdx mouse

Myofibril

10.3389/fneur.2024.1325222

Cite

Citations (2)

Convivendo com doenças hereditárias

Genética na Escola (2024)

Laura Machado Lara Carvalho Gustavo Dib Dangoni Ana Cristina Victorino Krepischi

O diagnóstico de doenças hereditárias pode ter importantes impactos sociais, psicológicos e financeiros, abalando relações familiares e dificultando a vida cotidiana. Dependendo do padrão de herança, há riscos variáveis de recorrência da condição para a descendência direta do indivíduo identificado com a doença e para outros membros da família. Ansiedade, vergonha, medo, culpa, luto, sentimento de incerteza e de discriminação são relatos frequentes. Este artigo se propõe a tratar dessas questões sensíveis, ilustradas sob diferentes perspectivas por narrativas de três produções cinematográficas (“O óleo de Lorenzo”, “Para sempre Alice” e “Extraordinário”).

10.55838/1980-3540.ge.2024.566

Cite

Citations (0)

Haptoglobin levels are influenced by Hp1–Hp2 polymorphism, obesity, inflammation, and hypertension in type 2 diabetes mellitus

Endocrinología Diabetes y Nutrición (English ed ) (2019)

Kathryna Fontana Rodrigues Nathalia Teixeira Pietrani Laura Machado Lara Carvalho Adriana Bosco Valéria C. Sandrim

Haptoglobin

10.1016/j.endien.2019.01.005

Cite

Citations (0)