Browsing by Author "Martinez Aguayo, Alejandro"

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    3-Epi-25 Serum 25-Hydroxyvitamin D3 Concentrations in Chilean Children Between 5 and 8 Years
    (KARGER, 2018) Arancibia, Monica; Seiltgens, Cristian; Poggi, Helena; Allende, Fidel; Solari, Sandra; Peredo, Soledad; Trincado, Claudia; Garcia, Hernan; Moore, Rosario; Dapremont, Ivonne; Andrade, Daniela; Sifaqui, Sofia; Ossa, Jt; Campino, Carmen; Carvajal, Cristian; Fardella, Carlos; Baudrand, Rene; Sanchez, Ximena; Martinez Aguayo, Alejandro
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    A Deletion Encompassing Exon 2 of the ALS Gene: Analysis of a Patient with ALS Deficiency and His Family
    (KARGER, 2018) Poggi, Helena; Arancibia, Monica; Benavides, Felipe; Lagos, Carlos; Vecchiola, Andrea; Dominguez Menendez, Gonzalo; Martinez Aguayo, Alejandro
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    A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency
    (ENDOCRINE SOC, 2008) Artigas, Rocio A.; Gonzalez, Angel; Riquelme, Erick; Carvajal, Cristian A.; Cattani, Andreina; Martinez Aguayo, Alejandro; Kalergis, Alexis M.; Perez Acle, Tomas; Fardella, Carlos E.
    Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by unresponsiveness to ACTH. In this study, two mutations of the ACTH receptor (MC2R) gene are reported in this FGD clinical case.
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    About transgender children and adolescents
    (SOC CHILENA PEDIATRIA, 2018) Mendoza Fuentes, Carolina; Martinez Aguayo, Alejandro
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    Aldosterone, Plasma Renin Activity, and Aldosterone/Renin Ratio in a Normotensive Healthy Pediatric Population
    (LIPPINCOTT WILLIAMS & WILKINS, 2010) Martinez Aguayo, Alejandro; Aglony, Marlene; Campino, Carmen; Garcia, Hernan; Bancalari, Rodrigo; Bolte, Lillian; Avalos, Carolina; Loureiro, Carolina; Carvajal, Cristian A.; Avila, Alejandra; Perez, Viviana; Inostroza, Andrea; Fardella, Carlos E.
    Primary aldosteronism is an important cause of secondary hypertension and is suspected in adults with an aldosterone/renin ratio >= 25. The normal aldosterone/renin ratio is unknown in children. The aim was to establish serum aldosterone, plasma renin activity, and aldosterone/renin ratio values in a healthy pediatric population. A cross-sectional study was performed in 211 healthy normotensive children (4 to 16 years old). Two subgroups of normotensive children were obtained: with hypertensive parents (NH) (n=113) and normotensive parents (n=98). Blood samples for measuring serum aldosterone, plasma renin activity, aldosterone/renin ratio, and DNA were collected. In subjects with aldosterone/renin ratio >= 25, the chimeric CYP11B1/CYP11B2 gene was investigated by long-extension PCR. Results are expressed as median [Q(1)-Q(3)]. NH and normotensive parents groups were similar in serum aldosterone (6.5 [3.6 to 9.0] ng/dL versus 6.5 [2.9 to 9.7] ng/dL; P=0.968) and plasma renin activity (2.3 [1.6 to 3.1] versus 2.4 [1.7 to 3.7] ng/mL per hour; P=0.129). The aldosterone/renin ratio was higher in the NH group, but this difference did not reach statistical significance (2.8 [1.9 to 4.1] versus 2.5 [1.4 to 4.0], P=0.104). In one subject of the NH group, the chimeric CYP11B1/CYP11B2 gene was detected. We demonstrated that normal aldosterone/renin ratio values in a healthy pediatric population without NH were lower than those reported for an adult normotensive population. (Hypertension. 2010;56:391-396.)
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    Birth weight is inversely associated with blood pressure and serum aldosterone and cortisol levels in children
    (WILEY, 2012) Martinez Aguayo, Alejandro; Aglony, Marlene; Bancalari, Rodrigo; Avalos, Carolina; Bolte, Lillian; Garcia, Hernan; Loureiro, Carolina; Carvajal, Cristian; Campino, Carmen; Inostroza, Andrea; Fardella, Carlos
    Context Low birth weight has been independently associated with adult hypertension, and renin-angiotensin system (RAS) plays a role in this connection.
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    Citosine-Adenine-Repeat Microsatellite of 11 beta-hydroxysteroid dehydrogenase 2 Gene in Hypertensive Children
    (OXFORD UNIV PRESS, 2016) Valdivia, Carolina; Carvajal, Cristian A.; Campino, Carmen; Allende, Fidel; Martinez Aguayo, Alejandro; Baudrand, Rene; Vecchiola, Andrea; Lagos, Carlos F.; Tapia Castillo, Alejandra; Fuentes, Cristobal A.; Aglony, Marlene; Solari, Sandra; Kalergis, Alexis M.; Garcia, Hernan; Owen, Gareth I.; Fardella, Carlos E.
    BACKGROUND
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    DEAH-Box Helicase 37defects (DXH37) Defects Are a Novel Cause of 46,XY Gonadal Dysgenesis
    (KARGER, 2018) Gomes, Nathalia; Silva, Thatiana; Lerario, Antonio; Batista, Rafael Loch; Faria Junior, Jose Antonio; Moraes, Daniela; Frade Costa, Elaine Maria; Nishi, Mirian; Carvalho, Luciani Renata; Veronica Forclaz, Maria; Papazian, Regina; Martinez Aguayo, Alejandro; de Paula, Leila Pedroso; Carvalho, Filomena Marino; Vilain, Erick; Barseghyan, Hayk Barseghyan; Keegan, Catherine; Domenice, Sorahia; Mendonca, Berenice Bilharinho
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    Frequency of Familial Hyperaldosteronism Type 1 in a Hypertensive Pediatric Population Clinical and Biochemical Presentation
    (LIPPINCOTT WILLIAMS & WILKINS, 2011) Aglony, Marlene; Martinez Aguayo, Alejandro; Carvajal, Cristian A.; Campino, Carmen; Garcia, Hernan; Bancalari, Rodrigo; Bolte, Lillian; Avalos, Carolina; Loureiro, Carolina; Trejo, Pamela; Brinkmann, Karin; Giadrosich, Vinka; Mericq, Veronica; Rocha, Ana; Avila, Alejandra; Perez, Viviana; Inostroza, Andrea; Fardella, Carlos E.
    Familial hyperaldosteronism type 1 is an autosomal dominant disorder attributed to a chimeric CYP11B1/CYP11B2 gene (CG). Its prevalence and manifestation in the pediatric population has not been established. We aimed to investigate the prevalence of familial hyperaldosteronism type 1 in Chilean hypertensive children and to describe their clinical and biochemical characteristics. We studied 130 untreated hypertensive children (4 to 16 years old). Blood samples for measuring plasma potassium, serum aldosterone, plasma renin activity, aldosterone/renin ratio, and DNA were collected. The detection of CG was performed using long-extension PCR. We found 4 (3.08%) of 130 children with CG who belonged to 4 unrelated families. The 4 patients with CG had very high aldosterone/renin ratio (49 to 242). In addition, we found 4 children and 5 adults who were affected among 21 first-degree relatives. Of the 8 affected children, 6 presented severe hypertension, 1 presented prehypertension, and 1 presented normotension. High serum aldosterone levels (> 17.7 ng/dL) were detected in 6 of 8 subjects (range: 18.6 to 48.4 ng/dL) and suppressed plasma renin activity (<= 0.5 ng/mL per hour) and high aldosterone/renin ratio (> 10) in 8 of 8 children (range: 49 to 242). Hypokalemia was observed in only 1 of 8 children. We demonstrated that the prevalence of familial hyperaldosteronism type 1 in a pediatric hypertensive pediatric population was surprisingly high. We found a high variability in the clinical and biochemical characteristics of the affected patients, which suggests that familial hyperaldosteronism type 1 is a heterogeneous disease with a wide spectrum of presentations even within the same family group. (Hypertension. 2011;57:1117-1121.). Online Data Supplement
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    Higher Dehydroepiandrosterone Levels in Prepubertal Children Born Very Preterm
    (KARGER, 2018) Mericq, Veronica; Martinez Aguayo, Alejandro; Iniguez, German; Poggi, Helena; D'Apremont, Ivonne; Moore, Rosario; Arancibia, Monica; Garcia, Hernan; Peredo, Soledad; Trincado, Claudia; Sifaqui, Sofia; Tomas Ossa, Jose; Fardella, Carlos; Carvajal, Cristian; Campino, Carmen; Baudrand, Rene; Solari, Sandra; Allende, Fidel
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    How to Optimally Manage Growth Hormone Therapy: Survey of Chilean Pediatric Endocrinologists
    (KARGER, 2012) Garcia, Roberto J.; Martinez Aguayo, Alejandro; Mericq, Veronica
    Early referral is the key to the optimal management of growth failure. Evidence shows that there is no universal consensus for endocrinologists on the handling, tracking and monitoring of growth hormone (GH) treatment. The monitoring of therapy varies due to national prescription guidelines. The aim of this work was to assess the clinical management of short-stature patients who use GH prescribed by pediatric endocrinologists (n = 30) who belong to the Chilean Endocrinology Society (SOCHED). We conducted a questionnaire through an anonymous survey. We observed a large variability of responses to all of the questions. Once the clinician suggests GH treatment, patients usually begin treatment with a strong motivation, and maintenance of this motivation will improve the treatment outcomes. We propose 3-4 months of medical follow-up during which strict physician-patient communication and education is critical. Copyright (C) 2012 S. Karger AG, Basel
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    Insulin resistance parameters in children born very preterm and adequate for gestational age
    (WILEY, 2022) Garcia, Hernan; Loureiro, Carolina; Poggi, Helena; D'Apremont, Ivonne; Moore, Rosario; Ossa, Jose Tomas; Bruera, Maria Jose; Peredo, Soledad; Carvajal, Jacqueline; Trincado, Claudia; Martinez Aguayo, Alejandro
    Background Preterm neonates are at risk for metabolic syndrome later in life. Whether prematurity constitutes an independent risk factor for the development of cardiovascular disease and metabolic syndrome remains controversial. Objective To compare anthropometric measures, cardiometabolic risk factors and insulin resistance variables between children who were born very preterm (VPT, <32 gestational weeks) and at term (Term, >37 gestational weeks) and adequate for gestational age (AGA). Methods We designed a cross-sectional cohort study, recruiting 120 children (5.0-8.5 years old) from the preterm clinic at Red de Salud UC-Christus and Complejo Asistencial Dr. Sotero del Rio, and term children from the community. We excluded children born small for gestational age, based on INTERGROWTH21. Anthropometrics data were classified using WHO reference standards. The homeostasis model assessment insulin resistance (HOMA-IR) index, quantitative insulin sensitivity check index (QUICKI), triglyceride-to-HDL-C ratio (TG/HDL-C) and Pediatric Score Index for Metabolic Syndrome (PsiMS) were calculated. Results VPT children born AGA had lower HDL cholesterol levels (p = .019) and a higher PsiMS score than those born at term (p = .043). We observed a higher percentage of children with HDL cholesterol <= 40 mg/dl (13.0% vs. 2.3%, p = .026) and BP >= 90th percentile among the VPT children than among the Term children (26.0% vs. 11.6%, p = .031). Conclusions At school age, blood pressure was higher, and HDL-C was lower among VPT children born AGA, suggesting a potential metabolic risk; therefore, it is essential to follow this group throughout their lives.
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    Insulin Resistance Parameters in Children Who Were Born Very Preterm and Adequate for Gestational Age
    (KARGER, 2018) Garcia, Hernan; Poggi, Helena; Arancibia, Monica; Peredo, Soledad; Trincado, Claudia; Moore, Rosario; D'Apremont, Ivonne; Andrade, Daniela; Sifaqui, Sofia; Ossa, J. T.; Campino, Carmen; Carvajal, Cristian; Fardella, Carlos; Baudrand, Rene; Solari, Sandra; Allende, Fidel; Martinez Aguayo, Alejandro
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    Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus
    (WILEY, 2009) Codner, Ethel; Rocha, Ana; Deng, Liyong; Martinez Aguayo, Alejandro; Godoy, Claudia; Mericq, Veronica; Chung, Wendy K.
    Background: Incidental hyperglycemia in children generates concern about the presence of preclinical type I diabetes mellitus (T1DM).
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    Polymorphisms in the RAC1 Gene Are Associated With Hypertension Risk Factors in a Chilean Pediatric Population
    (OXFORD UNIV PRESS, 2014) Tapia Castillo, Alejandra; Carvajal, Cristian A.; Campino, Carmen; Vecchiola, Andrea; Allende, Fidel; Solari, Sandra; Garcia, Lorena; Lavanderos, Sergio; Valdivia, Carolina; Fuentes, Cristobal; Lagos, Carlos F.; Martinez Aguayo, Alejandro; Baudrand, Rene; Aglony, Marlene; Garcia, Hernan; Fardella, Carlos E.
    The GTPase Rac1 has been implicated in hypertension as a modulator of mineralocorticoid receptor activity. Our aim is to investigate the frequency of polymorphisms rs10951982 (intron 1, G > A) and rs836478 (intron 3, T > C) in the RAC1 gene and perform association studies with clinical and biochemical parameters in a Chilean pediatric cohort.
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    Prevalence of hypertension in school age children and its association with obesity
    (SOC MEDICA SANTIAGO, 2011) Bancalari, Rodrigo; Diaz, Carlos; Martinez Aguayo, Alejandro; Aglony, Marlene; Zamorano, Juanita; Cerda, Veronica; Fernandez, Manuel; Garbin, Flabia; Cavada, Gabriel; Valenzuela, Maria; Garcia, Hernan
    Background: Hypertension in children is a frequently overlooked problem that is an important cardiovascular risk factor. Aim: To determine the prevalence of hypertension among school age children. Material and Methods: Cross-sectional study of 2980 children aged 10 +/- 2 years (48% females) from 10 schools of middle and lower class in Metropolitan Santiago. Blood pressure (BP) was measured in the sitting position on three occasions after a rest period, using a mercury sphygmomanometer with appropriate cuff arm diameter, averaging the results of the measurements. Systolic and diastolic hypertension were defined as blood pressure values over 95 percentile for age, sex and height. Results: The overall prevalence of hypertension was 12.2% in women and 15% in men (p < 0.05). According to nutritional status, the prevalence was 6.7, 8.9, 13.6 and 26% in underweight, eutrophic, overweight and obese children, respectively (p < 0.01). Compared with normal weight children, the risk of being hypertensive for overweight children was 1.6 (95% confidence intervals (CI) 1.2-2.3) and for obese children was 3.6 (95% CI 2.8-4.7). Conclusions: The studied children had a high prevalence of hypertension, that was directly related to a higher body mass index. (Rev Med Chile 2011; 139: 872-879).
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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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    Seasonal 25-hydroxy Vitamin D3 variations in school-aged children from Santiago de Chile
    (KARGER, 2019) Poggi, Helena; Dominguez, Gonzalo; Monica, Arancibia; Moore, Rosario; D'Apremont, Ivonne; Solari, Sandra; Allende, Fidel; Sifaqui, Sofia; Garcia, Hernan; Martinez Aguayo, Alejandro
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    Serum cortisol and cortisone, and urinary cortisol, cortisone, and tetrahydro-metabolites concentrations in school-aged children born very preterm adequate for gestational age
    (KARGER, 2021) Dominguez Menendez, Gonzalo; Fernanda Ochoa Molina, Maria; Poggi Mayorga, Helena; Allende Sanzana, Fidel; Solari Guajardo, Sandra; Fardella Bello, Carlos E.; Carvajal, Cristian A.; Campino Johnson, Carmen; Baudrand Biggs, Rene; Garcia Bruce, Hernan; Moore Valdes, Rosario; D'apremont Ormeno, Ivonne; Martinez Aguayo, Alejandro
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    Some considerations in the management of children and adolescents with non-conforming gender
    (SOC CHILENA PEDIATRIA, 2019) Martinez Aguayo, Alejandro; Arancibia Cabala, Monica; Mendoza Fuentes, Carolina