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Life
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Metabolic Bone Diseases: From Classroom to Clinic
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Metabolic Bone Diseases: From Classroom to Clinic

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Physiology and Pathology".

Deadline for manuscript submissions: closed (8 October 2021) | Viewed by 8988

Special Issue Editors

Dr. Jonathan Lowery

E-Mail Website
Guest Editor
Division of Biomedical Science (Physiology), Marian University College of Osteopathic Medicine, Indianapolis, IN 46222, USA
Interests: cell biology; molecular biology; medical physiology; cell signaling; genomics; genetics; gene expression; cell culture; immunohistochemistry; PCR
Dr. Julia Hum

E-Mail Website
Guest Editor
Division of Biomedical Science (Physiology & Pharmacology), Marian University College of Osteopathic Medicine, Indianapolis, IN 46222, USA
Interests: cell biology; molecular biology; medical physiology; cell signaling; genomics; genetics; gene expression; cell culture; pharmacology
Dr. Brian Skinner

E-Mail Website
Guest Editor
Division of Clinical Affairs (Internal Medicine), Marian University College of Osteopathic Medicine, Indianapolis, IN 46222, USA
Interests: pharmacy; therapeutics; medical physiology; pharmacology

Special Issue Information

Dear Colleagues,

The term “metabolic bone disease” describes a heterogeneous class of conditions with altered skeletal homeostasis due to defects in bone remodeling, mineral deficiency, and/or material structure. While some metabolic bone diseases are common (e.g., osteoporosis), others are ultra-rare (e.g., osteopetrosis). The diagnosis and management of metabolic bone diseases often occur in a primary care setting. However, there is a deficiency of high-quality, teaching-oriented review articles to orient primary care practitioners and students to the varied clinical presentation and radiographic/biochemical findings that assist in the diagnosis of metabolic bone disease.

In this special issue of Life (IF: 2.991, ISSN 2075-1729), “Metabolic Bone Diseases: From Classroom to Clinic”, we aim to address the typical presentation and path to diagnosis for metabolic bone disease, highlighting both the essential pathophysiology and the pharmacology. Articles should include a stereotypical case presentation, applicable clinical, radiographic and/or biochemical findings supporting the diagnosis, essential pathophysiology for the condition, and, where appropriate, information on available pharmacotherapy.

Dr. Jonathan Lowery
Dr. Julia Hum
Dr. Brian Skinner
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Life is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • metabolic bone disease
  • osteoporosis
  • osteoblast
  • osteocyte

Published Papers (4 papers)

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Research

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8 pages, 879 KiB  
Communication
Examining the Role of Hypothalamus-Derived Neuromedin-U (NMU) in Bone Remodeling of Rats
by Gabriella Born-Evers, Ashley L. Orr, Elizabeth Q. Hulsey, Maria E. Squire, Julia M. Hum, Lilian Plotkin, Catherine Sampson, Jonathan Hommel and Jonathan W. Lowery
Life 2023, 13(4), 918; https://doi.org/10.3390/life13040918 - 31 Mar 2023
Cited by 1 | Viewed by 1257
Abstract
Global loss of the neuropeptide Neuromedin-U (NMU) is associated with increased bone formation and high bone mass in male and female mice by twelve weeks of age, suggesting that NMU suppresses osteoblast differentiation and/or activity in vivo. NMU is highly expressed in numerous [...] Read more.
Global loss of the neuropeptide Neuromedin-U (NMU) is associated with increased bone formation and high bone mass in male and female mice by twelve weeks of age, suggesting that NMU suppresses osteoblast differentiation and/or activity in vivo. NMU is highly expressed in numerous anatomical locations including the skeleton and the hypothalamus. This raises the possibility that NMU exerts indirect effects on bone remodeling from an extra-skeletal location such as the brain. Thus, in the present study we used microinjection to deliver viruses carrying short-hairpin RNA designed to knockdown Nmu expression in the hypothalamus of 8-week-old male rats and evaluated the effects on bone mass in the peripheral skeleton. Quantitative RT-PCR confirmed approximately 92% knockdown of Nmu in the hypothalamus. However, after six weeks, micro computed tomography on tibiae from Nmu-knockdown rats demonstrated no significant change in trabecular or cortical bone mass as compared to controls. These findings are corroborated by histomorphometric analyses which indicate no differences in osteoblast or osteoclast parameters between controls and Nmu-knockdown samples. Collectively, these data suggest that hypothalamus-derived NMU does not regulate bone remodeling in the postnatal skeleton. Future studies are necessary to delineate the direct versus indirect effects of NMU on bone remodeling. Full article
(This article belongs to the Special Issue Metabolic Bone Diseases: From Classroom to Clinic)
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10 pages, 844 KiB  
Article
NMUR1 in the NMU-Mediated Regulation of Bone Remodeling
by Yu-Tin Hsiao, Kelli J. Manikowski, Samantha Snyder, Nicole Griffin, Ashley L. Orr, Elizabeth Q. Hulsey, Gabriella Born-Evers, Tara Zukosky, Maria E. Squire, Julia M. Hum, Corinne E. Metzger, Matthew R. Allen and Jonathan W. Lowery
Life 2021, 11(10), 1028; https://doi.org/10.3390/life11101028 - 29 Sep 2021
Cited by 1 | Viewed by 2254
Abstract
Neuromedin-U (NMU) is an evolutionarily conserved peptide that regulates varying physiologic effects including blood pressure, stress and allergic responses, metabolic and feeding behavior, pain perception, and neuroendocrine functions. Recently, several lines of investigation implicate NMU in regulating bone remodeling. For instance, global loss [...] Read more.
Neuromedin-U (NMU) is an evolutionarily conserved peptide that regulates varying physiologic effects including blood pressure, stress and allergic responses, metabolic and feeding behavior, pain perception, and neuroendocrine functions. Recently, several lines of investigation implicate NMU in regulating bone remodeling. For instance, global loss of NMU expression in male and female mice leads to high bone mass due to elevated bone formation rate with no alteration in bone resorption rate or observable defect in skeletal patterning. Additionally, NMU treatment regulates the activity of osteoblasts in vitro. The downstream pathway utilized by NMU to carry out these effects is unknown as NMU signals via two G-protein-coupled receptors (GPCRs), NMU receptor 1 (NMUR1), and NMU receptor 2 (NMUR2), and both are expressed in the postnatal skeleton. Here, we sought to address this open question and build a better understanding of the downstream pathway utilized by NMU. Our approach involved the knockdown of Nmur1 in MC3T3-E1 cells in vitro and a global knockout of Nmur1 in vivo. We detail specific cell signaling events (e.g., mTOR phosphorylation) that are deficient in the absence of NMUR1 expression yet trabecular bone volume in femora and tibiae of 12-week-old male Nmur1 knockout mice are unchanged, compared to controls. These results suggest that NMUR1 is required for NMU-dependent signaling in MC3T3-E1 cells, but it is not required for the NMU-mediated effects on bone remodeling in vivo. Future studies examining the role of NMUR2 are required to determine the downstream pathway utilized by NMU to regulate bone remodeling in vivo. Full article
(This article belongs to the Special Issue Metabolic Bone Diseases: From Classroom to Clinic)
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12 pages, 1915 KiB  
Article
Long-Term Results of the Modular Physiological Wrist Prosthesis (MPW®) in Patients with Inflammatory Diseases
by Christoph Biehl, Martin Stoll, Martin Heinrich, Lotta Biehl, Jochen Jung, Christian Heiss and Gabor Szalay
Life 2021, 11(4), 355; https://doi.org/10.3390/life11040355 - 18 Apr 2021
Cited by 2 | Viewed by 1971
Abstract
The wrist is among the predilection sites of over 90% of cases of rheumatoid arthritis (RA). In advanced cases, total wrist arthroplasty (TWA) is an alternative to arthrodesis. The aim of this study is to present the long-term results of the modular physiological [...] Read more.
The wrist is among the predilection sites of over 90% of cases of rheumatoid arthritis (RA). In advanced cases, total wrist arthroplasty (TWA) is an alternative to arthrodesis. The aim of this study is to present the long-term results of the modular physiological wrist prosthesis (MPW®) and to match them in context with the results of a standard population survey. In a retrospective study with follow-up, patients with an MPW® endoprosthesis were evaluated concerning the clinical and radiological outcome, complications were reviewed (incidence and type), and conversion to wrist fusion was assessed. Patient function measurements included the Mayo wrist score, the patient-specific wrist test, and therefore the DASH score (arm, shoulder, and hand). Thirty-four MPW® wrist prostheses were implanted in 32 patients, including thirty primary implantations and four changes of the type of the endoprosthesis. Sixteen patients (18 prostheses) underwent clinical and radiological follow-up. The average follow-up time was 8.5 years (1 to 16). Poor results of the MPW prosthesis are caused by the issues of balancing with luxation and increased PE wear. Salvage procedures included revision of the TWA or fusion. In successful cases, the flexion and extension movement averaged 40 degrees. The grip force was around 2.5 kg. The common DASH score was 79 points, with limited and problematic joints of the upper extremity. The MPW wrist prosthesis offered good pain relief and functional movement in over 80% of cases. The issues of dislocation and increased PE wear prevent better long-term results, as do the joints affected. A follow-up study with fittings under a contemporary anti-rheumatic therapy with biologicals suggests increasing score results. Type of study/level of evidence: Case series, IV. Full article
(This article belongs to the Special Issue Metabolic Bone Diseases: From Classroom to Clinic)
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Review

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15 pages, 236 KiB  
Review
The Metabolic Bone Disease X-linked Hypophosphatemia: Case Presentation, Pathophysiology and Pharmacology
by Jon Vincze, Brian W. Skinner, Katherine A. Tucker, Kory A. Conaway, Jonathan W. Lowery and Julia M. Hum
Life 2021, 11(6), 563; https://doi.org/10.3390/life11060563 - 15 Jun 2021
Cited by 1 | Viewed by 2593
Abstract
The authors present a stereotypical case presentation of X-linked hypophosphatemia (XLH) and provide a review of the pathophysiology and related pharmacology of this condition, primarily focusing on the FDA-approved medication burosumab. XLH is a renal phosphate wasting disorder caused by loss of function [...] Read more.
The authors present a stereotypical case presentation of X-linked hypophosphatemia (XLH) and provide a review of the pathophysiology and related pharmacology of this condition, primarily focusing on the FDA-approved medication burosumab. XLH is a renal phosphate wasting disorder caused by loss of function mutations in the PHEX gene (phosphate-regulating gene with homologies to endopeptidases on the X chromosome). Typical biochemical findings include elevated serum levels of bioactive/intact fibroblast growth factor 23 (FGF23) which lead to (i) low serum phosphate levels, (ii) increased fractional excretion of phosphate, and (iii) inappropriately low or normal 1,25-dihydroxyvitamin D (1,25-vitD). XLH is the most common form of heritable rickets and short stature in patients with XLH is due to chronic hypophosphatemia. Additionally, patients with XLH experience joint pain and osteoarthritis from skeletal deformities, fractures, enthesopathy, spinal stenosis, and hearing loss. Historically, treatment for XLH was limited to oral phosphate supplementation, active vitamin D supplementation, and surgical intervention for cases of severe bowed legs. In 2018, the United States Food and Drug Administration (FDA) approved burosumab for the treatment of XLH and this medication has demonstrated substantial benefit compared with conventional therapy. Burosumab binds circulating intact FGF23 and blocks its biological effects in target tissues, resulting in increased serum inorganic phosphate (Pi) concentrations and increased conversion of inactive vitamin D to active 1,25-vitD. Full article
(This article belongs to the Special Issue Metabolic Bone Diseases: From Classroom to Clinic)
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