49 research outputs found

    Familial Medullary Thyroid Carcinoma Associated with Cutaneous Lichen Amyloidosis

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    Background: This is a report of a patient with a novel genotype phenotype relationship of a c804 mutation of the RET proto-oncogene manifesting as medullary thyroid carcinoma (MTC) and cutaneous lichen amyloidosis (CLA). Summary: Clinical data were obtained for patient appearance and laboratory results. Analyzed were histopathology of the skin lesion and thyroid gland, genetic mutation, and family pedigree. Skin histology and histochemistry were consistent with CLA. Serum calcitonin levels were moderately elevated. Thyroid histology demonstrated a 4mm focus of MTC. Measurements of serum parathormone, calcium, and plasma metanephrines were normal. DNA analysis demonstrated a mutation in codon 804 of the RET proto-oncogene resulting in a Valine to Methionine (V804M) substitution. Genetic testing in two siblings revealed the same mutation. Conclusions: This is the first description of a patient with CLA not associated with a mutation in codon 634. The patient is one of the few with a V804M mutation in whom the clinical expression did not fully conform to the definition of familial MTC.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/78146/1/thy.2009.0021.pd

    Dietary and/or physical activity interventions in women with overweight or obesity prior to fertility treatment : protocol for a systematic review and individual participant data meta-analysis

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    Funding Information: This project is partly supported by the Centre for Research Excellence in Women's Health in Reproductive Life (app1171592) through a project support grant. RW is supported by a National Health and Medical Research Council (NHRMC) Investigator grant (2009767). LM is supported by a Heart Foundation Future Leader Fellowship. Funding Information: AH reports consultancy for Ferring with respect to the development of a lifestyle app. BWM is supported by an NHMRC Investigator grant (GNT1176437). BWM reports personal fees from ObsEva and Merck, and travel support from Merck, outside the submitted work. RW reports grants from the NHMRC. TM is supported by a Future Leader in Diabetes Award from the European Foundation for the Study of Diabetes/Novo Nordisk Foundation (NNF19SA058975) and grants from the regional health authority in Central Norway. ATK reports personal fees from Merck for lectures. The other authors do not have competing interest to declare. Funding Information: This project is partly supported by the Centre for Research Excellence in Women’s Health in Reproductive Life (app1171592) through a project support grant. RW is supported by a National Health and Medical Research Council (NHRMC) Investigator grant (2009767). LM is supported by a Heart Foundation Future Leader Fellowship. Publisher Copyright: © Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.Peer reviewedPublisher PD

    Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancer

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    Genome-wide association studies of prostate cancer have identified single nucleotide polymorphism (SNP) markers in a region of chromosome 10q11.2, harboring the microseminoprotein-β (MSMB) gene. Both the gene product of MSMB, the prostate secretory protein 94 (PSP94) and its binding protein (PSPBP), have been previously investigated as serum biomarkers for prostate cancer progression. Recent functional work has shown that different alleles of the significantly associated SNP in the promoter of MSMB found to be associated with prostate cancer risk, rs10993994, can influence its expression in tumors and in vitro studies. Since it is plausible that additional variants in this region contribute to the risk of prostate cancer, we have used next-generation sequencing technology to resequence a ~97-kb region that includes the area surrounding MSMB (chr10: 51,168,025–51,265,101) in 36 prostate cancer cases, 26 controls of European origin, and 8 unrelated CEPH individuals in order to identify additional variants to investigate in functional studies. We identified 241 novel polymorphisms within this region, including 142 in the 51-kb block of linkage disequilibrium (LD) that contains rs10993994 and the proximal promoter of MSMB. No sites were observed to be polymorphic within the exons of MSMB

    Patient and stakeholder engagement learnings: PREP-IT as a case study

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    Weight Mobility and Obesity in a Representative Sample of the US Adult Population

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    Background. Despite the attention given to the prevalence of obesity, surprisingly little is known about the incidence or reduction of obesity. We report the 1-year incidence and remission of obesity in a representative sample of the US population. Methods. Individuals from the Medical Expenditure Panel Survey (MEPS) panel 17 were classified into standard obesity categories at enrollment and one year later. Incidence rates were calculated by age. Results. Although the overall prevalence of obesity remained nearly constant, remission rates from obesity (stratified by age) ranged from 11 to 27% while incidence rates ranged from 6 to 16%. For almost all age levels, the proportion of individuals leaving an obese or overweight state was greater than or equal to the proportion who progressed to a more severe level of overweight or obesity. Overall, 36% of adults lost at least 2.5 kg/m2 in the one-year period; only 8% gained 2.5 kg/m2 or more. Individuals less than 25 years of age had higher rates of leaving overweight (23% versus <16%) and obesity (27% versus 24%) classifications than people of other ages. Conclusions. Prevalence rates of obesity are well documented in the United States, but incidence is understudied. Public health efforts that target young people with overweight or obesity may yield the greatest benefit
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