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Therapeutic Decision-Making Under Uncertainty in the Management of Spinal Muscular Atrophy: Results From DECISIONS-SMA Study.
Saposnik G, Camacho A, Díaz-Abós P, Brañas-Pampillón M, Sánchez-Menéndez V, Cabello-Moruno R, Terzaghi M, Maurino J, Málaga I. Saposnik G, et al. Neurol Ther. 2022 Sep;11(3):1209-1219. doi: 10.1007/s40120-022-00366-4. Epub 2022 Jun 3. Neurol Ther. 2022. PMID: 35657490 Free PMC article.
The multivariable analysis showed that lower aversion to ambiguity (p = 0.019) and lower expectation of treatment response (p = 0.007) were associated with higher TI after adjustment for participants' age and years of experience. Older age (p = 0.019), lower …
The multivariable analysis showed that lower aversion to ambiguity (p = 0.019) and lower expectation of treatment response (p …
Study of LEP, MRAP2 and POMC genes as potential causes of severe obesity in Brazilian patients.
da Fonseca ACP, Abreu GM, Zembrzuski VM, Campos Junior M, Carneiro JRI, Nogueira Neto JF, Magno FCCM, Rosado EL, Bozza PT, de Cabello GMK, Cabello PH. da Fonseca ACP, et al. Eat Weight Disord. 2021 Jun;26(5):1399-1408. doi: 10.1007/s40519-020-00946-z. Epub 2020 Jun 23. Eat Weight Disord. 2021. PMID: 32578125
Among them, one previous variant with potentially deleterious effect in MRAP2 (p.Arg125Cys) was found. In addition, two heterozygous mutations in POMC (p.Phe87Leu and p.Arg90Leu) were predicted to impair protein function. We also observed a POMC homozygous 9 …
Among them, one previous variant with potentially deleterious effect in MRAP2 (p.Arg125Cys) was found. In addition, two heterozygous …
SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort.
da Fonseca ACP, Assis ISS, Salum KCR, Palhinha L, Abreu GM, Zembrzuski VM, Campos Junior M, Nogueira Neto JF, Mattos FCC, Cambraia A, Rosado EL, Maya-Monteiro CM, Cabello PH, Carneiro JRI, Bozza PT. da Fonseca ACP, et al. Eat Weight Disord. 2022 Dec;27(8):3665-3674. doi: 10.1007/s40519-022-01506-3. Epub 2022 Nov 27. Eat Weight Disord. 2022. PMID: 36436143
RESULTS: A total of eight variants were identified in SH2B1, of which p.(Val345Met) and p.(Arg630Gln) variants were rare and predicted as potentially pathogenic by the in the silico algorithms used in this study. The p.(Val345Met) was not found in either the …
RESULTS: A total of eight variants were identified in SH2B1, of which p.(Val345Met) and p.(Arg630Gln) variants were rare and p …
Identification of the MC4R start lost mutation in a morbidly obese Brazilian patient.
da Fonseca ACP, Abreu GM, Zembrzuski VM, Junior MC, Carneiro JRI, Magno FCCM, Rosado EL, Nogueira Neto JF, de Cabello GMK, Cabello PH. da Fonseca ACP, et al. Diabetes Metab Syndr Obes. 2019 Feb 21;12:257-266. doi: 10.2147/DMSO.S189455. eCollection 2019. Diabetes Metab Syndr Obes. 2019. PMID: 30863132 Free PMC article.
Patients carrying MC4R variants had higher median of waist-hip ratio when compared to noncarriers (P=0.048). These missense variants were also associated with hypertension (P=0.014). Additionally, Val103Ile carriers had lower diastolic blood pressure and lower systo …
Patients carrying MC4R variants had higher median of waist-hip ratio when compared to noncarriers (P=0.048). These missense variants …