Article
Genetics & Heredity
N. Guffon, M. Pettazzoni, N. Pangaud, C. Garin, G. Lina-Granade, C. Plault, C. Mottolese, R. Froissart, A. Fouilhoux
Summary: Patients with Hurler syndrome can survive into the third and fourth decades of life after receiving HSCT, but they still have residual diseases. Late-onset psychiatric manifestations are significant, and there is heterogeneity in intellectual performance.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Endocrinology & Metabolism
Yian Khai Lau, Sun H. Peck, Toren Arginteanu, Meilun Wu, Megan Lin, Eileen M. Shore, Peter S. Klein, Margret L. Casal, Lachlan J. Smith
Summary: The study found that bone and cartilage cells in MPS I are capable of responding to exogenous osteogenic signals even in the presence of significant lysosomal storage, suggesting that targeted osteogenic therapies may represent a promising approach for attenuating bone disease progression in MPS I.
Article
Genetics & Heredity
Agnieszka Rozdzynska-Swiatkowska, Anna Zielinska, Anna Tylki-Szymanska
Summary: This study summarizes over 30 years of observations on growth dynamics in patients with different types of MPS. The results show that growth patterns significantly deviate from the general population, with MPS IVA patients having the most severe growth impairments and MPS III patients having the mildest impairments.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Biochemistry & Molecular Biology
E. Yu Voskoboeva, T. M. Bookina, A. N. Semyachkina, S. V. Mikhaylova, N. D. Vashakmadze, G. V. Baydakova, E. Yu Zakharova, S. I. Kutsev
Summary: This article presents the results of a molecular genetic study on 206 patients with mucopolysaccharidosis type I (MPS I) from the Russian Federation and other republics of the former Soviet Union. The study found differences in the distribution of IDUA gene mutations among different populations and ethnic groups. The identified features are important for understanding the molecular origin of the disease, predicting the risk of its development, and creating optimal diagnostic and treatment tools for specific regions and ethnic groups.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2022)
Article
Endocrinology & Metabolism
Ying Guo, Lili Pei, Yuzheng Li, Chunde Li, Songbai Gui, Ming Ni, Pinan Liu, Yazhuo Zhang, Liyong Zhong
Summary: This study investigated the characteristics of hypothalamic-pituitary dysfunction (HPD) in patients with adamantinomatous craniopharyngioma (ACP) or papillary craniopharyngioma (PCP), and identified the factors affecting HPD aggravation after surgery. The results showed that surgical treatment significantly aggravated HPD in both the ACP and PCP groups, but the specific characteristics and risk factors leading to aggravation were different between the two groups.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Letter
Ophthalmology
Kara A. Dolezal, Adam Jacobson, Cagri G. Besirli, Victor Elner, Brenda L. Bohnsack
Summary: This case report describes the histopathologic findings of a 2-year-old girl with Hurler-Scheie syndrome receiving iduronidase enzyme replacement therapy who was diagnosed with secondary glaucoma based on high intraocular pressure and increased cup-disc ratio.
JAMA OPHTHALMOLOGY
(2022)
Article
Endocrinology & Metabolism
Nishitha R. Pillai, Sara A. Elsbecker, Ashish O. Gupta, Troy C. Lund, Paul J. Orchard, Elizabeth Braunlin
Summary: In this study, the addition of continuous milrinone infusion during hematopoietic cell transplantation (HCT) was found to be effective in improving cardiac function in infants with severe mucopolysaccharidosis type I (MPS IH) whose cardiac systolic function failed to normalize with enzyme replacement therapy (ERT) alone. All patients experienced a recovery in cardiac function after HCT, with only one patient experiencing sepsis-related death during the procedure.
MOLECULAR GENETICS AND METABOLISM
(2023)
Article
Biophysics
Jade L. Kutzke, Julianna A. Merten, Jodi L. Taraba, Kristin C. Mara, Mithun V. Shah, Shahrukh K. Hashmi, Mrinal M. Patnaik, Mark R. Litzow, William J. Hogan, Hassan B. Alkhateeb
Summary: This study examined whether the use of azithromycin at the time of BOS diagnosis in patients who received allogeneic HSCT would increase the risk of disease relapse. The results indicated that patients who used azithromycin were not associated with an increased risk of relapse compared to those who did not use azithromycin.
BONE MARROW TRANSPLANTATION
(2021)
Article
Biophysics
Antoine Gardin, Martin Castelle, Samia Pichard, Aline Cano, Brigitte Chabrol, Julie Piarroux, Agathe Roubertie, Yann Nadjar, Anne-Sophie Guemann, Marine Tardieu, Didier Lacombe, Matthieu P. Robert, Catherine Caillaud, Roseline Froissart, Virginie Leboeuf, Valerie Barbier, Juliette Bouchereau, Manuel Schiff, Brigitte Fauroux, Briac Thierry, Romain Luscan, Syril James, Timothee de Saint-Denis, Stephanie Pannier, Cyril Gitiaux, Estelle Vergnaud, Nathalie Boddaert, Claire Lascourreges, Michel Lemoine, Damien Bonnet, Stephane Blanche, Jean-Hugues Dalle, Benedicte Neven, Pascale de Lonlay, Anais Brassier
Summary: MPS I-H is a rare lysosomal storage disorder caused by alpha-L-Iduronidase deficiency. Early hematopoietic stem cell transplantation (HSCT) is the only available therapeutic option to preserve neurocognitive functions. A long-term follow-up of MPS I-H patients who underwent HSCT showed good outcomes in terms of chimerism, enzyme activity, language acquisition, and socio-professional insertion. However, skeletal dysplasia and sensory impairments progressed despite HSCT, indicating the need for further treatment options such as gene therapy.
BONE MARROW TRANSPLANTATION
(2023)
Article
Hematology
Shanmuganathan Chandrakasan, Sharat Chandra, Chengyu Prince, Lisa J. Kobrynski, Laura Lucas, Kiran Patel, Jolan Walter, Rebecca H. Buckley, Roland Meisel, Sujal Ghosh, Suhag H. Parikh
Summary: This study investigated the immune status of CD40 ligand (CD40L)-deficient carriers and the outcomes of hematopoietic stem cell transplantation (HSCT) using them as donors for CD40L-deficient patients. The results showed that the immune profiles of carriers were comparable to healthy controls, and HSCT using carriers as donors resulted in excellent immune reconstitution without immune dysregulation. The study also demonstrated higher CD40L expression in the T-follicular helper (Tfh) compartment of carriers, suggesting a potential advantage for CD40L-expressing Tfh cells.
Article
Hematology
Su Han Lum, Paul J. Orchard, Troy C. Lund, Weston P. Miller, Jaap Jan Boelens, Robert Wynn
Summary: The study reports the outcomes of cord blood transplantation in children with Hurler syndrome using a pharmacokinetics-targeted myeloablative conditioning regimen. The overall survival rate was 88%, and the engrafted survival rate was 79%. Different conditioning regimens had varying effects on patient survival rates.
TRANSPLANTATION AND CELLULAR THERAPY
(2021)
Article
Biology
Mariona Baliu-Pique, Vera van Hoeven, Julia Drylewicz, Lotte E. van der Wagen, Anke Janssen, Sigrid A. Otto, Menno C. van Zelm, Rob J. de Boer, Jurgen Kuball, Jose A. M. Borghans, Kiki Tesselaar
Summary: The study found that in patients after autologous hematopoietic stem cell transplantation (autoHSCT), the production rates of most T- and B-cell subsets increased significantly, but accompanied by an increase in cell loss rates, which persisted even after cell numbers normalized.
Article
Environmental Sciences
Susana Santos, Chalana M. Sol, Charissa Van Zwol-Janssens, Elise M. Philips, Alexandros G. Asimakopoulos, Maria-Pilar Martinez-Moral, Kurunthachalam Kannan, Vincent W. V. Jaddoe, Leonardo Trasande
Summary: Exposure to phthalates during pregnancy may lead to fetal growth restriction and preterm birth. Different trimester-specific exposures to phthalates may have varying effects on fetal growth and birth outcomes.
ENVIRONMENT INTERNATIONAL
(2021)
Article
Endocrinology & Metabolism
Tereza Andreou, Yuko Ishikawa-Learmonth, Brian W. Bigger
Summary: Mucopolysaccharidosis Type I (MPSI) is a rare lysosomal storage disease caused by mutations in the IDUA gene. The Idua-W392X mouse model of MPSI shows craniofacial abnormalities, neuromuscular deficits, and behavioral abnormalities. This model may be useful for studying new treatments for MPSI-Hurler, as it exhibits similar behaviors to Hurler children.
MOLECULAR GENETICS AND METABOLISM
(2023)
Article
Cell Biology
S. Joseph Endicott, Dennis N. Boynton, Logan J. Beckmann, Richard A. Miller
Summary: This study demonstrates that CMA activity is enhanced in fed Snell dwarf mice and ghr KO mice, potentially due to changes in AKT regulation, GFAP phosphorylation, and substrate uptake activity.
Article
Education, Scientific Disciplines
Jerica M. Berge, Kait Macheledt, Sophie Watson, Heather Dorr, Snigdha Pusalavidyasagar, Alicia Kunin-Batson, Rebekah Pratt, Sara L. Zimmer, Jakub Tolar, Amanda Termuhlen
Summary: This study describes the process of creating the Center for Women in Medicine and Science at the University of Minnesota Medical School, using a theory- and metric-driven approach. The study also shares four lessons learned from the development of the center and the outcomes achieved.
Article
Surgery
Kelly Walton, Kirsti Walker, Megan Riddle, Brent H. Koehn, Jordan Reff, Elizabeth M. Sagatys, Michael A. Linden, Joseph Pidala, Jongphil Kim, Marie C. Lee, John Kiluk, Jane Yuet Ching Hui, Sang Y. Yun, Yan Xing, Heather Stefanski, Harshani R. Lawrence, Nicholas J. Lawrence, Jakub Tolar, Claudio Anasetti, Bruce R. Blazar, Said M. Sebti, Brian C. Betts
Summary: AJI-100, a dual inhibitor of JAK2 and Aurora kinase A, ameliorates skin graft rejection by human T cells and provides durable allo-inactivation. It reduces allograft invasion by limiting skin-homing CLA(+) donor T cells and suppresses pathogenic Th1 and Th17 cells while sparing regulatory T cells. Additionally, AJI-100 enhances human type 2 innate lymphoid cell responses for tissue repair by maintaining pSTAT5 levels and blocking interference by STAT3.
AMERICAN JOURNAL OF TRANSPLANTATION
(2022)
Review
Chemistry, Medicinal
Bradley S. Miller, Kevin C. J. Yuen
Summary: Lonapegsomatropin, a long-acting GH therapy, has been approved for the treatment of pediatric growth hormone deficiency. It has a longer half-life and requires weekly administration. Clinical trials have shown its positive efficacy in children and adults with GHD, with minimal side effects. The introduction of this long-acting growth hormone therapy may potentially improve patient adherence, quality of life, and clinical outcomes.
DRUG DESIGN DEVELOPMENT AND THERAPY
(2022)
Article
Endocrinology & Metabolism
Diana W. Lone, Karim T. Sadak, Bradley S. Miller, Jeannette M. Sample, Aubrey K. Hubbard, Caryn Wolter, Michelle Roesler, Michelle Nuno, Jenny N. Poynter
Summary: This study investigated the prevalence of growth hormone (GH) deficiency and its associated factors among childhood intracranial germ cell tumor (iGCT) survivors. The results showed that GH deficiency is highly prevalent in iGCT survivors, frequently emerging as an early late effect after treatment. Further research is needed to improve early detection and treatment of this common late effect in iGCT survivors.
JOURNAL OF ENDOCRINOLOGY AND METABOLISM
(2022)
Review
Biotechnology & Applied Microbiology
Ashish O. Gupta, Gerald Raymond, Elizabeth Pierpont, Stephan Kemp, R. Scott McIvor, Arpana Rayannavar, Bradley Miller, Troy C. Lund, Paul J. Orchard
Summary: Adrenoleukodystrophy (ALD) is a rare disorder that causes severe neuroinflammation and fatality. Historically, allogeneic hematopoietic stem cell transplantation (HSCT) has been the only therapeutic option to halt the progression of cerebral ALD. However, recent studies have explored lentiviral-based gene therapy as an alternative treatment.
EXPERT OPINION ON BIOLOGICAL THERAPY
(2022)
Article
Endocrinology & Metabolism
Bradley S. Miller, Joanne C. Blair, Michael Hojby Rasmussen, Aristides Maniatis, Rasmus Juul Kildemoes, Jun Mori, Michel Polak, Rikke Beck Bang, Volker Boettcher, Stefano Stagi, Reiko Horikawa
Summary: Similar efficacy and safety were demonstrated for Somapacitan compared to daily GH over 52 weeks of treatment in children with GH deficiency.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Endocrinology & Metabolism
Bradley S. Miller
Summary: Novel long-acting growth hormone (LAGH) therapies have shown promising efficacy and safety in children with pediatric growth hormone deficiency (PGHD), potentially improving patient adherence and quality of life. Clinicians need to carefully select suitable candidates for LAGH therapy and monitor treatment progress accordingly.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Monica E. Neugebauer, Alvin Hsu, Mandana Arbab, Nicholas A. Krasnow, Amber N. McElroy, Smriti Pandey, Jordan L. Doman, Tony P. Huang, Aditya Raguram, Samagya Banskota, Gregory A. Newby, Jakub Tolar, Mark J. Osborn, David R. Liu
Summary: Improved cytosine base editors are generated by phage-assisted evolution of a deoxyadenosine deaminase, which exhibit small size, low off-target activity, and high on-target activity. These modified base editors have significant application potential in cell and gene editing.
NATURE BIOTECHNOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Colby J. J. Feser, James M. M. Williams, Daniel T. T. Lammers, Jason R. R. Bingham, Matthew J. J. Eckert, Jakub Tolar, Mark J. J. Osborn
Summary: Recombinant engineering commonly uses plasmid-based gene templates for protein production, but faces challenges with post-translational modifications and large protein expression. Integration of CRISPR/Cas9-synergistic activator mediator (SAM) system into human cells enables robust gene expression and protein production. This study successfully integrated SAM system components into human cells and demonstrated their potential for targeted gene expression and modulation, with broad applications in recombinant engineering and transcriptional regulation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Letter
Endocrinology & Metabolism
Bradley S. Miller, Joanne C. Blair, Michael Hojby Rasmussen, Aristides Maniatis, Rasmus Juul Kildemoes, Jun Mori, Michel Polak, Rikke Beck Bang, Volker Boettcher, Stefano Stagi, Reiko Horikawa
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Rohan K. Henry, Bradley S. Miller
Summary: This article provides a practical approach to the management of pediatric growth hormone deficiency through 4 case-based presentations. Pediatric GHD has diverse etiology and clinical presentation, and timely intervention can improve growth and metabolic outcomes.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Medical Laboratory Technology
Ievgen Motorykin, Jianying Mu, Bradley S. Miller, Allison Li, Nigel J. Clarke, Michael J. Mcphaul, Zengru Wu
Summary: This study aimed to determine the detection rate of IGF-1 variants in a clinical population and assess their implications. IGF-1 variants were detected based on their predicted mass-to-charge ratios, and DNA sequencing was conducted to confirm the polymorphism. The results showed that 0.45% of the patients had IGF-1 variants, with 98% of the variants having amino acid substitutions located at the C-terminus. For patients with variants, the IGF-1 concentrations only accounted for half of the total IGF-1.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
(2023)
Article
Endocrinology & Metabolism
Bradley S. Miller, Joanne C. Blair, Michael Hojby Rasmussen, Aristides Maniatis, Jun Mori, Volker Boettcher, Ho-Seong Kim, Rikke Beck Bang, Michel Polak, Reiko Horikawa
Summary: This study evaluated the efficacy and tolerability of somapacitan in children with growth hormone deficiency (GHD) for 2 years and after switching from daily growth hormone treatment. The results showed that somapacitan was effective and well-tolerated during the 2-year period, and patients and caregivers preferred once-weekly somapacitan treatment.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Rasmus J. Kildemoes, Philippe F. Backeljauw, Michael Hojby, Joanne C. Blair, Bradley S. Miller, Jun Mori, Yassine K. Lyauk
Summary: This study provides model-based insights into the dose-insulin-like growth factor (IGF)-I responses of once-weekly somapacitan and daily GH in children with GH deficiency (GHD). The results suggest that somapacitan may have comparable effects to daily GH therapy.
JOURNAL OF THE ENDOCRINE SOCIETY
(2023)
Article
Biochemistry & Molecular Biology
Christopher J. Sipe, Mitchell G. Kluesner, Samuel P. Bingea, Walker S. Lahr, Aneesha A. Andrew, Minjing Wang, Anthony P. DeFeo, Timothy L. Hinkel, Kanut Laoharawee, John E. Wagner, Margaret L. MacMillan, Gregory M. Vercellotti, Jakub Tolar, Mark J. Osborn, R. Scott McIvor, Beau R. Webber, Branden S. Moriarity
Summary: Fanconi anemia is a rare genetic disease characterized by a lack of genes essential for DNA repair. Researchers have used digital genome editing to correct the mutated genes in patient cells, resulting in phenotypic rescue.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)