Browsing by Author "Baudrand Biggs, René Felipe"

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    A new presentation of the chimeric CYP11B1/CYP11B2 gene with low prevalence of primary aldosteronism and atypical gene segregation pattern
    (Lippincott Williams & Wilkins, 2012) Carvajal Maldonado, Cristian Andrés; Campino Johnson, María del Carmen; Martínez Aguayo, Alejandro Gregorio; Tichauer Calderón, Juan Enrique; Bancalari, Rodrigo; Valdivia, Carolina; Trejo, Pamela; Aglony Imbarack, Marlene Elizabeth; Baudrand Biggs, René Felipe; Lagos Arévalo, Carlos Fernando; Mellado Sagredo, Cecilia Ximena Del Carmen; García Bruce, Hernán Gabriel; Fardella Bello, Carlos Enrique
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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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    Effects of mindfulness-based stress reduction on psychological distress in health workers: A three-arm parallel randomized controlled trial
    (Pergamon-Elsevier Science Ltd., 2022) Errazuriz Concha, Antonia; Schmidt, Kristin; Undurraga, Eduardo A.; Medeiros Urzua, Sebastián; Baudrand Biggs, René Felipe; Cussen Sanhueza, Diego; Henríquez Henríquez, Marcela Patricia; Celhay, Pablo; Figueroa, Rodrigo A.
    Mindfulness-based Stress Reduction (MBSR) has shown good efficacy for improving wellbeing in employees experiencing occupational stress. However, comparisons with other interventions, longer-term follow-up, and data from varying sociocultural contexts are lacking. This three-arm, parallel randomised controlled trial (RCT) examined the effects of MBSR on psychological distress in non-physician health workers in direct contact with patients. 105 participants were randomly allocated to either: (1) MBSR (N = 35), (2) Stress Management Course (SMC; N = 34) or (3) wait-list (N = 36). Participants and those assessing outcomes were blinded to group assignment. Participants completed questionnaires pre- and post-intervention and four months after the intervention. Psychological distress was measured using the General Health Questionnaire (GHQ-12) and Outcome Questionnaire (OQ-45). Secondary outcomes included perceived stress, job satisfaction, mindfulness skills and changes in salivary cortisol. 77 participants completed measures post-intervention and 52 at 4-month follow-up. MBSR showed a post-intervention effect in reducing GHQ-12 (ss = -0.80 [SE = 1.58] p < 0.01) and OQ-45 (ss = -0.72, [SE = 5.87] p < 0.05) psychological distress, compared to SMC and in reducing GHQ-12 (ss = -1.30 [SE = 1.38] p < 0.001) and OQ-45 (ss = -0.71, [SE = 5.58] p < 0.01) psychological distress compared to wait-list condition. In our secondary outcome, only MBSR was associated with a decrease in the cortisol awaking response by 23% (p < 0.05). At follow-up, only effects of MBSR on the psychological distress 'social role' subscale (ss = -0.76 [SE = 1.31] p < 0.05) remained significant, compared to SMC. In conclusion, MBSR appears useful in reducing short-term psychological distress in healthcare workers, but these effects were not maintained at followup. Trial registration: ISRCTN12039804.
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    Genotype-specific neoplastic risk profiles in patients with VHL disease
    (Bioscientifica Ltd., 2025) Ganner, Athina; Ferrara, Alfonso Massimiliano; Sekula, Peggy; Schiavi, Francesca; Joo, Julia H.; Sanso, Gabriela; Almeida, Madson; Knoblauch, Anna Laura; Gizaw, Christine Julia; Krzystolik, Karol; Astheimer, Sophie Charlotte Astheimer; Achatz, María Isabel; Vieites, Ana; Donegan, Diane; Hundsberger, Thomas; Lubinski, Jan; Yildirim Simsir, Ilgin; Bandgar, Tushar; Hasse-Lazar, Kornelia; Pawlaczek, Agnieszka; Kater, Claudio E.; Baudrand Biggs, René Felipe; Andreescu, Corina E.; Uslar Nawrath, Thomas Hermann; Ishak, Tada
    Hereditary tumor predisposition syndromes pose a challenge for early detection and timely treatment of tumors. In von Hippel-Lindau disease, desirable personalized surveillance programs are lacking due to insufficient data on genotype-specific risk profiles of individual mutations. To describe neoplastic risk profiles for carriers of pathogenic and likely pathogenic VHL germline mutations, our observational study recruited 1,350 participants from 40 centers worldwide. 432 different VHL germline mutations were observed, with p.Asn78Ser, p.Arg161Ter, p.Arg161Gln, p.Arg167Gln, p.Arg167Trp and p.Tyr98His being the six most frequent, occurring in a total of 493 carriers (36.5%) and in ≥30 patients each. Age-related penetrance risks for retinal hemangioblastoma, central nervous system hemangioblastoma, renal cell carcinoma, pancreatic neuroendocrine tumors and pheochromocytoma/paraganglioma in carriers of the most frequent VHL mutations were assessed. In addition, the number of organs affected, the frequency of surgery and the outcome are reported. Pairwise comparisons of the age-dependent tumor penetrance of these six mutations showed that 47 out of 90 pairs were significantly different. The most significant associations were found in p.Tyr98His (n = 19), followed by p.Arg161Ter (n = 10). All pairwise comparisons of mutations affecting different codons showed at least one significant (P < 0.05) difference, except for p.Asn78Ser vs p.Arg161Ter. Thus, tumor risk varied by VHL mutation type and location, but did not differ between the truncating mutation p.Arg161Ter and the missense mutation p.Asn78Ser. Our study demonstrates the importance of mutation-specific phenotype prediction. With appropriate validation, the data have important implications for risk assessment and decision making in tumor prevention for carriers of the respective VHL mutations.