Browsing by Author "Grob Lunecke, Francisca Andrea"

Now showing 1 - 12 of 12
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    Approaching the diagnosis of thyroid disorders in preterm infants
    (2022) Grob Lunecke, Francisca Andrea
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    Avoiding the Overdiagnosis of Congenital Hypothyroidism in Premature Newborns
    (2019) Grob Lunecke, Francisca Andrea; Vliet, Guy VanGrob Lunecke, Francisca Andrea; Vliet, Guy VanGrob Lunecke, Francisca Andrea; Vliet, Guy VanGrob Lunecke, Francisca Andrea; Vliet, Guy Van
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    Caracterización clínica de pacientes chilenos con displasia fibrosa/síndrome de McCune-Albright
    (2022) Jimenez Sandoval, Catalina de Los Ángeles; Schneider, Paulina; Baudrand Biggs, René Felipe; García, Hernán; Martinez, Alejandro; Mendoza, Carolina; Grob Lunecke, Francisca Andrea; Seiltgens Sorrel, Cristián; Florenzano Valdés, Pablo Felipe
    Background: Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS) is characterized by a spectrum of manifestations that may include fibrous dysplasia of bone and multiple endocrinopathies. Aim: To describe the clinical spectrum, the study and follow-up of patients with FD/MAS cared at our institution. Material and Methods: Review of medical records of 12 pediatric and adult patients (11 women) who met the clinical and genetic diagnostic criteria for FD/ MAS. Results: The patients’ mean age at diagnosis was 4.9 ± 5.5 years. The most common initial clinical manifestation was peripheral precocious puberty (PPP) in 67% of patients and 75% had café-au-lait spots. Fibrous dysplasia was present in 75% of patients and the mean age at diagnosis was 7.9 ± 4.7 years. Ten patients had a bone scintigraphy, with an age at the first examination that varied between 2 and 38 years of age. The most frequent location of dysplasia was craniofacial and appendicular. No patient had a recorded history of cholestasis, hepatitis, or pancreatitis. In four patients, a genetic study was performed that was positive for the pathogenic variant of guanine nucleotide binding protein, alpha stimulating (GNAS). Conclusions: These patients demonstrate the variable nature of the clinical presentation and study of FD/MAS. It is essential to increase the index of diagnostic suspicion and adherence to international recommendations.
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    Concordancia de la citología por punción con aguja fina para la detección de cáncer de tiroides en pediatría
    (2014) Grob Lunecke, Francisca Andrea; Carrillo, D.; Martínez Aguayo, Alejandro Gregorio; Zoroquiain Vélez, José Pablo; Solar González, Antonieta Alejandra; Nicolaides, I.; González Díaz, Hernán
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    Estudio y manejo de nódulos tiroideos por médicos no especialistas. Consenso SOCHED
    (2017) Tala, Hernán; Díaz, René E.; Domínguez Ruiz-Tagle, José Miguel; Sapunar Zenteno, Jorge; Pineda, Pedro; Mosso Gómez, Lorena; González Díaz, Hernán; Grob Lunecke, Francisca Andrea; Cruz Olivos, Francisco; Solar González, Antonieta Alejandra; Gac, Patricio E.; Glasinovic Pizarro, Andrea; Barberán, Marcela; Cabané, Patricio; Hidalgo Valle, Maria Soledad; Jaimovich, Rodrigo; Lanas, Alejandra; Liberman, Claudio; Lobo Guiñez, Maite; Madrid, Arturo; Moreno Seguel, Marcela; Arroyo Albala, Patricia; Munizaga, Fernando C.; Ortiz Parada, Eugenia; Osorio Gonnet, Fernando; Slater Morales, Jeannie; Stehr, Carlos; Vásquez Rodríguez, Félix; Véliz, Jesús; Villaseca Najarian, Roberto; Wohllk, Nelson
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    McCune Albright Syndrome : Gastrointestinal Polyps and Platelet Dysfunction over 12 Years
    (2020) Grob Lunecke, Francisca Andrea; Zacharin, M.
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    Neurodevelopmental follow-up of children born to mothers with Graves’ disease and neonatal hyperthyroidism
    (2024) Grob Lunecke, Francisca Andrea; Brown, Amy; Zacharin, Margaret
    Introduction: Neonatal hyperthyroidism, often caused by maternal Graves' disease (GD), carries potential neurodevelopmental risks for children. Excessive thyroid hormones during fetal development are linked to neurological issues like ADHD and epilepsy. However, the impact of transient neonatal hyperthyroidism is not well understood. Methods: In a retrospective study at the Royal Children's Hospital in Melbourne, 21 neonates with hyperthyroidism from mothers with GD were examined. Of these, the parents of 10 children consented to participate; thus, questionnaires assessing executive functions, behavior, and social communication were completed. The outcomes were compared to those of control subjects recruited from the community using standardized tools (BRIEF, SDQ, SCQ). The results were analyzed against socio-demographic factors, maternal, and neonatal health. Results: No significant demographic or clinical differences were found between study participants (n=10) and nonparticipants (n=11). Participants, compared to controls, showed similar family demographics but a higher proportion of control parents had university-level education (p=0.003). Patients displayed more social (SCQ scores: 12.1±2.5 vs. 6±1.07, p=0.008) and behavioral difficulties (SDQ scores: 10.2±2.17 vs. 6.14±1.03, p=0.03), with increased executive function challenges (BRIEF scores indicating problem-solving and self-regulation difficulties). Significant effects of family living situation and partner education level on neurodevelopmental measures were noted, underscoring the influence of socio-demographic factors. Conclusions: These findings suggest neonatal hyperthyroidism might lead to subtle neurodevelopmental variations, with socio-economic elements and family dynamics possibly intensifying these effects. While most children didn't show severe impairments, early detection and intervention are recommended. The research emphasizes the necessity for inclusive care approaches that consider socio-economic factors for children affected by neonatal hyperthyroidism
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    Newborn of mothers with Graves' disease
    (2018) Goecke, C.; Grob Lunecke, Francisca Andrea
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    Newborn screening for primary congenital hypothyroidism: past, present and future
    (2025) Grob Lunecke, Francisca Andrea; Lain, Samantha; Olivieri, Antonella
    This manuscript reviews the evolution of newborn screening for primary congenital hypothyroidism (CH) and explores future strategies to enhance diagnostic accuracy. Over the past few decades, newborn screening has expanded globally, significantly reducing the incidence of severe forms of the disease. However, challenges persist, especially regarding the overdiagnosis of mild cases of primary CH, which may not require treatment. Omic sciences may help researchers to enhance the understanding of primary CH and to uncover new biomarkers to identify mild cases with altered proteomic and/or metabolic profiles associated with the need for treatment. Record-linkage studies can help deepen knowledge on the long-term outcomes of affected children identified through newborn screening. Nevertheless, despite 50 years of newborn screening for primary CH, a minority of newborns currently benefit from this critically important public health intervention. Efforts should be done to expand access to newborn screening globally, especially for those born in developing countries.
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    La razón cintura estatura en escolares no varía con el género, la edad ni la maduración puberal
    (2014) Arnáiz Gómez, Pilar; Grob Lunecke, Francisca Andrea; Cavada, Gabriel; Domínguez de Landa, María Angélica; Bancalari, Rodrigo; Cerda, Verónica; Zamorano, Juanita; Fernández, Manuel; García Bruce, Hernán
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    Usefulness and Pitfalls in Sodium Intake Estimation : Comparison of Dietary Assessment and Urinary Excretion in Chilean Children and Adults
    (2016) Campino Johnson, María del Carmen; Hill, Caroline; Baudrand Biggs, René; Martínez Aguayo, Alejandro Gregorio; Aglony Imbarack, Marlene Elizabeth; Carrasco, Carmen A.; Ferrada, Clarita; Loureiro Pérez, Carolina Andrea; Vecchiola Cárdenas, Andrea Paola; Bancalari, Rodrigo; Grob Lunecke, Francisca Andrea; Carvajal, Cristian A.; Lagos, Carlos F.; Valdivia, Carolina; Tapia-Castillo, Alejandra; Fuentes Zúñiga, Cristóbal Andrés; Mendoza, Carolina; García Bruce, Hernán; Uauy, Ricardo; Fardella B., Carlos; Campino Johnson, María del Carmen; Hill, Caroline; Baudrand Biggs, René; Martínez Aguayo, Alejandro Gregorio; Aglony Imbarack, Marlene Elizabeth; Carrasco, Carmen A.; Ferrada, Clarita; Loureiro Pérez, Carolina Andrea; Vecchiola Cárdenas, Andrea Paola; Bancalari, Rodrigo; Grob Lunecke, Francisca Andrea; Carvajal, Cristian A.; Lagos, Carlos F.; Valdivia, Carolina; Tapia-Castillo, Alejandra; Fuentes, Cristóbal A.; Mendoza, Carolina; García Bruce, Hernán; Uauy, Ricardo; Fardella B., Carlos
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    Vitamin D deficiency rickets in an adolescent with severe atopic dermatitis
    (2014) Borzutzky Schachter, Arturo; Grob Lunecke, Francisca Andrea; Camargo Jr., Carlos A.; Martínez Aguayo, Alejandro Gregorio