Browsing by Author "Mendoza, Carolina"

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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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    Clinical guidelines using the GRADE system (Grading of Recommendations Assessment, Development and Evaluation)
    (SOC MEDICA SANTIAGO, 2017) Mendoza, Carolina; Kraemer, Patricia; Herrera, Paloma; Burdiles, Pamela; Sepulveda, Dino; Nunez, Eliozka; Munoz, Cecilia; Neumann, Ignacio
    The Ministry of Health of Chile, aiming to improve the quality of clinical practice guidelines, gradually incorporated the GRADE system (Grading of Recommendations, Assessment, Development and Evaluation) to develop evidence based recommendations. This system summarizes and evaluates the certainty of the available evidence. It moves from evidence to decision in a systematic and transparent manner, based on four main dimensions: balance between benefits and harms, certainty of evidence, patient's values and preferences and use of resources. The GRADE system produces strong and conditional recommendations. Strong recommendations provide confidence that the favorable consequences of an intervention clearly outweigh the adverse consequences, or vice versa. These recommendations apply to a broad range of patients and circumstances. Conditional recommendations, however, indicate that there is a close balance between favorable and unfavorable consequences of the intervention, there is uncertainty in the magnitude of benefits or adverse effects, there is uncertainty or variability in values and preferences of individuals or costs are not justified. These recommendations apply to many patients, but not all of them: ideally they should be discussed with each person. To achieve a better implementation of the recommendations made with GRADE methodology, health professionals should know the meaning of strong and conditional recommendations and they should be able to critically assess of them.
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    Facial Dysmorphic Features in a Patient With Nonketotic Hypoglycemia and a Pathogenic Variant in the AKT2 Gene
    (2022) Molina, Maria Fernanda Ochoa; Poggi, Helena; De Toro, Valeria; Mendoza, Carolina; Hussain, Khalid
    Background/Objective: AKT2 is a serine/threonine kinase that plays a key role in regulating insulin signaling. The phenotype related to the gain-of-function alteration in the AKT2 gene (c.49G>A, p.Glu17Lys) has been described in 5 patients with clinical findings that mimic hyperinsulinemic hypoglycemia but with undetectable levels of insulin and C-peptide. One of the reports highlights the facial dysmorphic features. We report the case of a new patient with the same activating AKT2 alteration leading to autonomous activation of the insulin signaling pathway and dysmorphic features. Moreover, to our knowledge, this is the first report using waxy maize heat-modified starch (WMHMS) in this condition. Case Report: A previously healthy child was evaluated at 6 months of age for episodes of hypoglycemia. The laboratory test results for the critical samples showed hypoketotic hypoglycemia (glucose level, 2.16 mmol/L [38 mg/dL]) with undetectable levels of insulin (<0.2 mU/L) and C-peptide (<0.033 nmol/L [reference range, 0.37-1.47 nmol/L]). Physical examination revealed hypertelorism, prominent proptosis of the eyes, a flat nasal bridge, delayed psychomotor development, and postnatal symmetrical overgrowth. The genetic study of AKT2 showed a pathogenic variant (c.49G>A, p.Glu17Lys). To achieve euglycemia, a diet of regular uncooked cornstarch (UCCS) carbohydrate was started. Subsequently, waxy maize heat-modified starch (WMHMS; Glycosade Vitaflo) was used to increase the fasting period to 4 hours. However, we did not find any advantages in comparison with UCCS. Discussion: The range of phenotypes of this gain-of-function alteration in AKT2 may be broad, including dysmorphic features, although the patients harbor the same pathogenic variant. Conclusion: Regarding the treatment, we observed a similar response with WMHMS compared with UCCS, with no adverse effects. (c) 2021 AACE. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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    Pseudohipoparatiroidismo de presentación tardía: reporte de dos casos
    (2018) Peña, Carolina; Pinochet, Constanza; Florenzano Valdés, Pablo Felipe; Mendoza, Carolina; Garfias, Carolina; Aracena Álvarez, Marcela; Mellado Sagredo, Cecilia; González Vicente, Gilberto
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    Quality of Life in Chilean Transgender Children and Adolescents
    (KARGER, 2022) Mendoza, Carolina; Poggi, Helena; Flores, Monica; Morales, Cristobal; Martinez Aguayo, Alejandro
    Introduction: Transgender (TG) children and adolescents experience problems in school as well as with family and social relationships that can adversely affect their physical and psychosocial health and impair their quality of life (QoL). This study aimed to assess health-related quality of life (HRQoL) in TG children. Methods: We performed a cross-sectional study comparing HRQoL in gender non-conforming (Trans) and gender-conforming (CIS) children and adolescents using the Spanish version of KIDSCREEN-52 in 120 Chilean Trans and CIS children (aged 8-18 years) and their parents. All scores were standardized according to the KIDSCREEN manual. Results: Among the 100 questionnaires answered, 38 corresponded to children and adolescents aged 8.4-18 years. Twenty-one of them were TG (71% trans males) and 17 were CIS (76% females). Sixty-two parents answered the questionnaires: 33 from families of TG children (PTrans) and 29 from families of CIS children (PCis). Trans children had lower HRQoL scores in all domains than CIS children. The lowest-scoring domains for TG children were "Moods and Emotions," "Psychological Well-Being" and "Social Acceptance," and the highest-scoring domain was "School Environment." The PTrans group had significantly higher scores than the Trans group for 3 of the 10 domains: "Psychological Well-Being," "Moods and Emotions," and "Parent Relations and Home Life." Conclusion: Our results revealed that TG children and adolescents have lower QoL than their CIS counterparts, especially regarding items related to mental health. Furthermore, their parents may underestimate their well-being, confirming the vulnerability of the TG population. This finding underlies the need to perform early assessments of QoL for early detection and intervention in aspects that could deteriorate their quality of life.
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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