Search Results - "Rutter, Meilan M"

Long-Term Outcome of Interdisciplinary Management of Patients with Duchenne Muscular Dystrophy Receiving Daily Glucocorticoid Treatment by Wong, Brenda L., MD, Rybalsky, Irina, MD, PhD, Shellenbarger, Karen C., RN, APRN, CPNP, Tian, Cuixia, MD, McMahon, Mary A., MD, Rutter, Meilan M., MD, Sawnani, Hemant, MD, Jefferies, John L., MD

“…Objective To evaluate clinical outcomes and steroid side effects in a cohort of patients with Duchenne muscular dystrophy (DMD) treated with long-term daily…”
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Appendicular lean mass index changes in patients with Duchenne muscular dystrophy and Becker muscular dystrophy by Wong, Brenda L., Summer, Suzanne, Horn, Paul S., Rutter, Meilan M., Rybalsky, Irina, Tian, Cuixia, Shellenbarger, Karen C., Kalkwarf, Heidi J.

“…Introduction Mutations in the 79 exons of the dystrophin gene result in muscle wasting and weakness of varying clinical severity, ranging from severe/typical…”
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Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool by Ernst, Michelle M, Gardner, Melissa, Mara, Constance A, Délot, Emmanuèle C, Fechner, Patricia Y, Fox, Michelle, Rutter, Meilan M, Speiser, Phyllis W, Vilain, Eric, Weidler, Erica M, Sandberg, David E

“…Utilization of a psychosocial screener to identify families affected by a disorder/difference of sex development (DSD) and at risk for adjustment challenges…”
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The Effect of Adiposity on Cardiovascular Function and Myocardial Fibrosis in Patients With Duchenne Muscular Dystrophy by Henson, Sarah E, Lang, Sean M, Khoury, Philip R, Tian, Cuixia, Rutter, Meilan M, Urbina, Elaine M, Ryan, Thomas D, Taylor, Michael D, Alsaied, Tarek

“…Background Patients with Duchenne muscular dystrophy (DMD) develop cardiomyopathy because of a dystrophin deficiency causing fibrofatty replacement of the…”
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Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States by Speiser, Phyllis W, Chawla, Reeti, Chen, Ming, Diaz-Thomas, Alicia, Finlayson, Courtney, Rutter, Meilan M, Sandberg, David E, Shimy, Kim, Talib, Rashida, Cerise, Jane, Vilain, Eric, Délot, Emmanuèle C

“…Newborn screening for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is mandated throughout the US. Filter paper blood specimens are…”
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Endocrine Evaluation of Children with and without Shwachman-Bodian-Diamond Syndrome Gene Mutations and Shwachman-Diamond Syndrome by Myers, Kasiani C., MD, Rose, Susan R., MD, Rutter, Meilan M., MB,BCh, FRACP, Mehta, Parinda A., MD, Khoury, Jane C., PhD, Cole, Theresa, RN, Harris, Richard E., MD

“…Objective To characterize the endocrine phenotype of patients with Shwachman-Diamond syndrome (SDS). Study design Clinically indicated endocrine screening data…”
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Exploring caregiver experiences of communicating with children about differences of sex development (DSD) by Kimball, Ashlynn, Rutter, Meilan M., Kavanaugh, Grace, Fishler, Kristen

“…Explore the caregiver experience of communicating about differences of sex development (DSD) with their children. Evidence-based guidance regarding how, when,…”
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Global Application of the Assessment of Communication Skills of Paediatric Endocrinology Fellows in the Management of Differences in Sex Development Using the ESPE E-Learning.Org Portal by Kranenburg, Laura J C, Reerds, Sam T H, Cools, Martine, Alderson, Julie, Muscarella, Miriam, Magrite, Ellie, Kuiper, Martijn, Abdelgaffar, Shereen, Balsamo, Antonio, Brauner, Raja, Chanoine, Jean Pierre, Deeb, Asma, Fechner, Patricia, German, Alina, Holterhus, Paul Martin, Juul, Anders, Mendonca, Berenice B, Neville, Kristen, Nordenstrom, Anna, Oostdijk, Wilma, Rey, Rodolfo A, Rutter, Meilan M, Shah, Nalini, Luo, Xiaoping, Grijpink, Kalinka, Drop, Stenvert L S

“…Information sharing in chronic conditions such as disorders of/differences in sex development (DSD) is essential for a comprehensive understanding by parents…”
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Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations by Chernock, Rebecca D., Rivera, Barbara, Borrelli, Nicla, Hill, D. Ashley, Fahiminiya, Somayyeh, Shah, Tasha, Chong, Anne-Sophie, Aqil, Barina, Mehrad, Mitra, Giordano, Thomas J., Sheridan, Rachel, Rutter, Meilan M., Dehner, Louis P., Foulkes, William D., Nikiforov, Yuri E.

“…Poorly differentiated thyroid carcinomas (PDTC) in young individuals are rare and their clinical and histopathologic features, genetic mechanisms, and outcomes…”
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Late endocrine effects of childhood cancer by Rose, Susan R., Horne, Vincent E., Howell, Jonathan, Lawson, Sarah A., Rutter, Meilan M., Trotman, Gylynthia E., Corathers, Sarah D.

“…Key Points Endocrine sequelae in survivors of childhood cancer depend on sex, age and pubertal stage at the time of cancer therapy, and on tumour location and…”
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DICER1 Mutations and Differentiated Thyroid Carcinoma: Evidence of a Direct Association by Rutter, Meilan M, Jha, Pranati, Schultz, Kris Ann P, Sheil, Amy, Harris, Anne K, Bauer, Andrew J, Field, Amanda L, Geller, James, Hill, D. Ashley

“…Context: DICER1 germline mutation carriers have an increased predisposition to cancer, such as pleuropulmonary blastoma (PPB) and Sertoli-Leydig cell tumor…”
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The effect of oral bisphosphonate therapy on vertebral morphometry and fractures in patients with Duchenne muscular dystrophy and glucocorticoid‐induced osteoporosis by Nasomyont, Nat, Tian, Cuixia, Hornung, Lindsey, Khoury, Jane, Hochwalt, Paul M., Tilden, Joshua Cole, Wong, Brenda L., Rutter, Meilan M.

“…Introduction/Aims Glucocorticoid‐induced osteoporosis with vertebral fractures is frequent in patients with Duchenne muscular dystrophy (DMD). In this study,…”
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Endocrine Disorders in Fanconi Anemia: Recommendations for Screening and Treatment by Petryk, Anna, Kanakatti Shankar, Roopa, Giri, Neelam, Hollenberg, Anthony N, Rutter, Meilan M, Nathan, Brandon, Lodish, Maya, Alter, Blanche P, Stratakis, Constantine A, Rose, Susan R

“…Context: Endocrine problems are common in patients with Fanconi anemia (FA). About 80% of children and adults with FA have at least one endocrine abnormality,…”
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Preferences in Clinical Care of Individuals With Differences of Sex Development by Avanceña, Anton L V, Rose, Angela M, Gardner, Melissa D, Rutter, Meilan M, Schafer-Kalkhoff, Tara, Suorsa-Johnson, Kristina I, van Leeuwen, Kathleen D, Weidler, Erica M, Gebremariam, Acham, Sandberg, David E, Prosser, Lisa A

“…To identify the most important attributes related to the process of achieving, and outcomes associated with, successful care for differences of sex development…”
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Recombinant human insulin‐like growth factor‐1 therapy for 6 months improves growth but not motor function in boys with Duchenne muscular dystrophy by Rutter, Meilan M., Wong, Brenda L., Collins, James J., Sawnani, Hemant, Taylor, Michael D., Horn, Paul S., Backeljauw, Philippe F.

“…Introduction Recombinant human insulin‐like growth factor‐1 (rhIGF‐1) is a growth factor and has anabolic effects on muscle. We investigated whether rhIGF‐1…”
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“It became easier once I knew”: Stakeholder perspectives for educating children and teenagers about their difference of sex development by Weidler, Erica M., Suorsa-Johnson, Kristina I., Baskin, Alison S., Fagerlin, Angela, Gardner, Melissa D., Rutter, Meilan M., Schafer-Kalkhoff, Tara, van Leeuwen, Kathleen, Sandberg, David E.

“…Secrecy about a child’s difference of sex development (DSD) can lead to internalized shame and stigma. We explored how teenagers and adults with DSD, parents,…”
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Bone health measures in glucocorticoid-treated ambulatory boys with Duchenne muscular dystrophy by Tian, Cuixia, Wong, Brenda L, Hornung, Lindsey, Khoury, Jane C, Miller, Lauren, Bange, Jean, Rybalsky, Irina, Rutter, Meilan M

“…Highlights • We examined bone health measures in 292 glucocorticoid-treated ambulant boys with DMD. • Bone health indices in ambulant boys with DMD worsened…”
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Age‐related changes in appendicular lean mass in males with Duchenne muscular dystrophy: A retrospective review by Summer, Suzanne S., Wong, Brenda L., Rutter, Meilan M., Horn, Paul S., Tian, Cuixia, Rybalsky, Irina, Shellenbarger, K. Courtney, Kalkwarf, Heidi J.

“…Background Appendicular lean mass (ALM) trajectory in males with Duchenne muscular dystrophy (DMD) has potential applicability for treatment and research and…”
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Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations by Hughes, Joel J., Alkhunaizi, Ebba, Kruszka, Paul, Pyle, Louise C., Grange, Dorothy K., Berger, Seth I., Payne, Katelyn K., Masser-Frye, Diane, Hu, Tommy, Christie, Michelle R., Clegg, Nancy J., Everson, Joshua L., Martinez, Ariel F., Walsh, Laurence E., Bedoukian, Emma, Jones, Marilyn C., Harris, Catharine Jean, Riedhammer, Korbinian M., Choukair, Daniela, Fechner, Patricia Y., Rutter, Meilan M., Hufnagel, Sophia B., Roifman, Maian, Kletter, Gad B., Delot, Emmanuele, Vilain, Eric, Lipinski, Robert J., Vezina, Chad M., Muenke, Maximilian, Chitayat, David

“…In two independent ongoing next-generation sequencing projects for individuals with holoprosencephaly and individuals with disorders of sex development, and…”
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Low bone mineral density and fractures are highly prevalent in pediatric patients with spinal muscular atrophy regardless of disease severity by Wasserman, Halley M, Hornung, Lindsey N, Stenger, Peggy J, Rutter, Meilan M, Wong, Brenda L, Rybalsky, Irina, Khoury, Jane C, Kalkwarf, Heidi J

“…Highlights • Low BMD was highly prevalent in SMA patients, regardless of SMA subtype. • Lateral distal femur BMD declined over time for all SMA subtypes. • All…”
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