Article
Endocrinology & Metabolism
Agnes Linglart, Erik A. Imel, Michael P. Whyte, Anthony A. Portale, Wolfgang Hogler, Annemieke M. Boot, Raja Padidela, William Van't Hoff, Gary S. Gottesman, Angel Chen, Alison Skrinar, Mary Scott Roberts, Thomas O. Carpenter
Summary: In children with XLH, treatment with burosumab for 160 weeks improved phosphate homeostasis, reduced rickets severity, and showed good tolerability.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Review
Medicine, General & Internal
Luis Arboleya, Ignacio Brana, Estefania Pardo, Marta Loredo, Ruben Queiro
Summary: Osteomalacia is a series of disorders characterized by altered mineralization of the skeleton, which can be caused by various genetic or acquired disorders, including nutritional deficiencies. It is important to differentiate osteomalacia from other bone diseases to avoid misdiagnosis and incorrect treatment. Clinicians should be aware of the subtle manifestations and radiological features of osteomalacia, and consider it as a possible cause of therapeutic failures in patients with other bone diseases.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Nutrition & Dietetics
Madhura Joshi, Suma Uday
Summary: Vitamin D is crucial for regulating calcium and phosphate metabolism and maintaining bone health. Deficiency can lead to rickets in children and osteomalacia in adults. Recent studies have shown that vitamin D also has effects on multiple biological processes beyond bone health. Chronic childhood conditions affecting various systems can increase the prevalence of vitamin D deficiency. Screening and treating deficiency is important for these children and young people with chronic diseases.
Review
Biochemistry & Molecular Biology
Cristina Gentile, Francesco Chiarelli
Summary: Rickets is a disease caused by deficient mineralization of the growth plate cartilage, predominantly affecting longer bones. Despite available preventive measures, it remains a common disease worldwide. Understanding the classification and respective clinical and laboratory features is essential for accurate diagnosis and treatment.
Article
Neurosciences
Suhalika S. Sahni, Shruti Kakkar, Ruchika Kumar, Jatinder S. Goraya
Summary: This study described a cohort of 26 children and adolescents with osteomalacic myopathy, most of whom presented with progressive walking difficulty and signs of rickets. Laboratory and radiographic findings were consistent with vitamin-D deficiency in all cases, and response to vitamin-D treatment was good.
Article
Endocrinology & Metabolism
Michael Thompson, Dawn Aitken, Saliu Balogun, Flavia Cicuttini, Graeme Jones
Summary: The longitudinal increase in population 25(OH)D concentration is attributed to increased sun exposure and supplement use. Maintaining or achieving vitamin D sufficiency is associated with less bone mineral density loss over 10 years.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Nutrition & Dietetics
Roger Bouillon, Leen Antonio, Oscar Rosero Olarte
Summary: Vitamin D deficiency has adverse effects on both skeletal and extra-skeletal health. The optimal level of vitamin D remains a subject of debate. Observational studies suggest a link between low vitamin D levels and increased infection risk and cardiovascular events, but intervention studies have not shown clear benefits on these outcomes. Pregnancy supplementation with vitamin D reduces the risk of certain complications. The role of vitamin D in neurodegenerative diseases is still unclear. Vitamin D supplementation may have a marginal effect on overall mortality risk, particularly in elderly individuals with low vitamin D levels.
Review
Biochemistry & Molecular Biology
Luisella Cianferotti
Summary: Mineralization plays a pivotal role in determining the stiffness and toughness of bones. Vitamin D deficiency is a major cause of altered mineralization, leading to inadequate absorption of calcium and phosphate. Assessment of alkaline phosphatase levels is important for diagnosing osteomalacia. The prevalence of different forms of osteomalacia and the effectiveness of treatment still require further research.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Andrei Mihai Surdu, Oana Pinzariu, Dana-Mihaela Ciobanu, Alina-Gabriela Negru, Simona-Sorana Cainap, Cecilia Lazea, Daniela Iacob, George Saraci, Dacian Tirinescu, Ileana Monica Borda, Gabriel Cismaru
Summary: Vitamin D plays a crucial role in cardiovascular health by influencing lipid levels, vascular tone, and atherosclerosis development. Deficiency of this vitamin increases cardiovascular risk, while supplementation has the potential to lower the risk factors.
Review
Nutrition & Dietetics
Luis Castano, Leire Madariaga, Gema Grau, Alejandro Garcia-Castano
Summary: Vitamin D is crucial for bone mineralization in children and deficiency is common. Certain medical conditions and genetic alterations can increase the risk of vitamin D deficiency rickets. Measurement of calcifediol levels is used to assess the status of the vitamin D endocrine system. Clinical trials have demonstrated the benefits of ensuring normal 25(OH)D levels and calcium intake in preventing or treating nutritional rickets in children.
Article
Biochemistry & Molecular Biology
Yuichiro Iwai, Ayano Iijima, Satoko Kise, Chika Nagao, Yuto Senda, Kana Yabu, Hiroki Mano, Miyu Nishikawa, Shinichi Ikushiro, Kaori Yasuda, Toshiyuki Sakaki
Summary: Vitamin D and VDR play critical roles in maintaining calcium homeostasis, bone formation, and immune response against cancer. Mutations in the VDR gene are associated with manifestations of type II rickets and abnormal bone formation. The unliganded VDR is crucial for maintaining the hair cycle and normal skin.
Article
Nutrition & Dietetics
Nasser M. Al-Daghri, Sobhy Yakout, Shaun Sabico, Kaiser Wani, Syed Danish Hussain, Naji Aljohani, Suma Uday, Wolfgang Hoegler
Summary: Nutrition-acquired osteomalacia is prevalent in Arab adolescents, with a higher prevalence in girls compared to boys, which is likely associated with Arab traditional clothing and diet.
Review
Medical Laboratory Technology
Jiri Janousek, Veronika Pilarova, Katerina Macakova, Anderson Nomura, Jessica Veiga-Matos, Diana Dias da Silva, Fernando Remiao, Luciano Saso, Katerina Mala-Ladova, Josef Maly, Lucie Novakova, Premysl Mladenka
Summary: Vitamin D plays a crucial role in calcium homeostasis and has various non-calcemic functions. Over one billion people worldwide are deficient in vitamin D, which is associated with several diseases. Supplementation can be beneficial, but it should be done under the supervision of healthcare professionals to avoid overdosing.
CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Antonela Gverovic Antunica, Ljubo Znaor, Mira Ivankovic, Velibor Puzovic, Irena Markovic, Snjezana Kastelan
Summary: Diabetic retinopathy, the most common eye disease complication of diabetes, is associated with hypovitaminosis D. Vitamin D2 and D3 are the main forms of vitamin D, with sunlight being a major source. Vitamin D plays a crucial role not only in maintaining healthy bones and immune system but also in the development of various diseases, including diabetic retinopathy. Diagnosis of vitamin D deficiency, which is prevalent worldwide, is done through measuring serum concentration of 25-hydroxyvitamin D. Supplementation of vitamin D has been proven effective in treating diabetic retinopathy, but under the recommendation and supervision of a doctor to prevent potential negative side effects.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Pediatrics
Sruti Mishra, Devendra Mishra, Bhawna Mahajan, Mukta Mantan, Amir Maroof Khan
Summary: This study compared the changes in serum vitamin D levels and other markers of bone mineral metabolism between a group supplemented with vitamin D and a group not supplemented. The results showed that vitamin D supplementation can reduce the decrease in vitamin D levels caused by valproate and have a positive impact on other markers.
INDIAN JOURNAL OF PEDIATRICS
(2023)
Article
Gastroenterology & Hepatology
Gudmundur Vignir Sigurdsson, Susanne Schmidt, Dan Mellstrom, Claes Ohlsson, Robert Saalman, Mattias Lorentzon
Summary: Young adult men with childhood-onset IBD have decreased bone quality in both cortical and trabecular bone structures compared to age- and height-matched controls. This has implications for their skeletal health and quality of life.
INFLAMMATORY BOWEL DISEASES
(2023)
Article
Endocrinology & Metabolism
Xiaoyu Xu, Haisheng Yang, Whitney A. Bullock, Maxim A. Gallant, Claes Ohlsson, Teresita M. Bellido, Russell P. Main
Summary: Age-related bone loss is caused by imbalanced bone turnover and decreased skeletal mechanoadaptation. Estrogen receptors, ER alpha and ER beta, play crucial roles in osteoprotective regulation. Previous studies focused on ER alpha but the role of Ot-ER beta in bone mass regulation is still unknown. This study found that Ot-ER beta regulates bone (re)modeling and mechanical signal response differently in males and females.
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
Article
Endocrinology & Metabolism
Winnie Liu, Brendan Lee, Sandesh C. S. Nagamani, Lindsey Nicol, Frank Rauch, Eric T. Rush, V. Reid Sutton, Eric Orwoll
Summary: Osteogenesis imperfecta (OI) is a genetic disorder that causes increased bone fragility. Medications used for fracture reduction in adults with OI, such as bisphosphonates and teriparatide, have shown potential in improving bone mineral density (BMD) but lack conclusive data on fracture protection. Other drugs and treatments have not been systematically studied in adults with OI. Further research is needed to develop medications that can effectively reduce fracture rates in adults with OI.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Genetics & Heredity
Yiheng Chen, Tianyuan Lu, Ulrika Pettersson-Kymmer, Isobel D. Stewart, Guillaume Butler-Laporte, Tomoko Nakanishi, Agustin Cerani, Kevin Y. H. Liang, Satoshi Yoshiji, Julian Daniel Sunday Willett, Chen-Yang Su, Parminder Raina, Celia M. T. Greenwood, Yossi Farjoun, Vincenzo Forgetta, Claudia Langenberg, Sirui Zhou, Claes Ohlsson, J. Brent Richards
Summary: Through genome-wide association studies, this study identified associations between 690 metabolites and 248 loci, as well as associations between 143 metabolite ratios and 69 loci. The integration of metabolite-gene and gene expression information revealed 94 effector genes for 109 metabolites and 48 metabolite ratios. The use of Mendelian randomization identified 22 metabolites and 20 metabolite ratios with estimated causal effects on 12 traits and diseases.
Article
Orthopedics
Henrik Damm, Anette Jonsson, Bjorn E. Rosengren, Lars Jehpsson, Claes Ohlsson, Eva Ribom, Dan Mellstrom, Magnus K. Karlsson
Summary: The purpose of this study was to determine the prevalence and morbidity of neck pain, cervical rhizopathy, upper extremity motor deficit, and/or thoracolumbar pain in elderly men. A cross-sectional questionnaire study of 3,000 community-dwelling older men was conducted, and the results showed that 29% of the participants reported experiencing neck pain and 54% reported thoracolumbar pain. Among those with neck pain, 13% had severe morbidity for those with only neck pain, while 46% had severe morbidity for those with neck pain, rhizopathy, and motor deficit.
JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH
(2023)
Article
Geriatrics & Gerontology
Leo D. Westbury, Charlotte Beaudart, Olivier Bruyere, Jane A. Cauley, Peggy Cawthon, Alfonso J. Cruz-Jentoft, Elizabeth M. Curtis, Kristine Ensrud, Roger A. Fielding, Helena Johansson, John A. Kanis, Magnus K. Karlsson, Nancy E. Lane, Laetitia Lengele, Mattias Lorentzon, Eugene McCloskey, Dan Mellstrom, Anne B. Newman, Claes Ohlsson, Eric Orwoll, Jean-Yves Reginster, Eva Ribom, Bjorn E. Rosengren, John T. Schousboe, Eric J. Shiroma, Nicholas C. Harvey, Elaine M. Dennison, Cyrus Cooper
Summary: The performance of recent sarcopenia definitions in terms of thresholds employed, concordance in individuals, and prediction of important health-related outcomes such as death is limited. This study addressed these limitations in a large multinational cohort study.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
Article
Endocrinology & Metabolism
Ben Kirk, Stephanie L. Harrison, Jesse Zanker, Andrew J. Burghardt, Eric Orwoll, Gustavo Duque, Peggy M. Cawthon
Summary: This study aimed to investigate the interaction between bone and muscle in predicting fractures in older men. Cox proportional hazards models were used with prospective data from the Osteoporotic Fractures in Men study. The results showed an interaction between D3Cr muscle mass and distal tibia total volumetric BMD (Tt.BMD) in the occurrence of fractures in older men. Importance rating: 7/10.
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)
Article
Endocrinology & Metabolism
Louise Grahnemo, Anna L. Eriksson, Maria Nethander, Robert Johansson, Mattias Lorentzon, Dan Mellstroem, Ulrika Pettersson-Kymmer, Claes Ohlsson
Summary: This study found a robust association between circulating valine and hip fractures, which was confirmed in a replication study. Further analysis showed that high circulating valine levels were associated with increased cortical bone area and trabecular thickness. Therefore, circulating valine may be an important marker for predicting hip fractures.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Medicine, General & Internal
Lina Lilja, Maria Bygdell, Jari Martikainen, Annika Rosengren, Jenny M. Kindblom, Claes Ohlsson
Summary: The study found that high BMI during childhood and puberty is associated with an increased risk of venous and arterial thromboembolic events in adult men. Young adult overweight is a strong determinant, while childhood overweight is a moderate determinant, of VTE in adult life.
JOURNAL OF INTERNAL MEDICINE
(2023)
Article
Endocrinology & Metabolism
Suchita Desai, Jianyao Wu, Karin Horkeby, Maria Norgard, Claes Ohlsson, Sara H. Windahl, Cecilia Engdahl
Summary: Mechanical loading enhances bone strength and counteracts arthritis-induced inflammation-mediated bone loss in female mice. It is unknown whether nonsteroidal anti-inflammatory drugs (NSAIDs; eg, COX-2 inhibitors) can reduce inflammation without affecting the loading-associated bone formation in male mice. The aim of this study was to investigate if loading combined with a COX-2 inhibitor (NS-398) could prevent arthritis-induced bone loss and inflammation in male mice. The results showed that loading prevented arthritis-induced bone loss and NS-398 reduced knee swelling without affecting the bone-protective effects of loading.
Article
Endocrinology & Metabolism
Charles Ginsberg, Terri Blackwell, Jonathan H. Cheng, O. Alison Potok, Jane A. Cauley, Kristine E. Ensrud, Simon Hsu, Deborah M. Kado, Eric Orwoll, Peggy M. Cawthon, Joachim H. Ix
Summary: This study evaluated the impact of the ratio of 24,25-dihydroxyvitamin D3 to 25(OH)D3 (VMR) and 25(OH)D3 on vBMD and bone strength in the distal radius and tibia of older men. The results showed that higher VMR was associated with higher vBMD and bone strength, while 25(OH)D3 had no impact on these outcomes.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Claes Ohlsson, Maria Nethander, Anna-Karin Norlen, Matti Poutanen, Elias Freyr Gudmundsson, Thor Aspelund, Sigurdur Sigurdsson, Henrik Ryberg, Vilmundur Gudnason, Asa Tivesten
Summary: This study found an inverse association between serum levels of DHEA and testosterone and coronary artery calcification in elderly men, partially independently from each other. These results raise the question whether androgens produced by both the adrenals and the testes may contribute to male cardiovascular health.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Geriatrics & Gerontology
Megan Hetherington-Rauth, Eileen Johnson, Eugenia Migliavacca, Neeta Parimi, Lisa Langsetmo, Russell T. Hepple, Yohan Grzywinski, John Corthesy, Terence E. Ryan, Luigi Ferrucci, Jerome N. Feige, Eric S. Orwoll, Peggy M. Cawthon
Summary: This study investigates the associations between amino acids, B vitamins, and their metabolites with D3Cr muscle mass in older men. The results suggest that tryptophan and alpha-hydroxy-5-methyl-tetrahydrofolate (hm-THF) have significant correlations with D3Cr muscle mass, walking speed, and grip strength.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2023)
Article
Endocrinology & Metabolism
Johan Svensson, Klara Sjogren, Lina Lawenius, Antti Koskela, Juha Tuukkanen, Karin H. Nilsson, Sofia Moverare-Skrtic, Claes Ohlsson
Summary: Insulin-like growth factor-I (IGF-I) levels and cortical bone dimensions play important roles in determining fracture risk in elderly people. Inactivation of liver-derived circulating IGF-I reduces periosteal bone expansion in young and older mice. This study investigates the effect of inducible inactivation of IGF-I specifically in bone on the bone phenotype in adult/old mice, finding that it results in reduced radial growth of cortical bone, suggesting the importance of locally derived IGF-I in regulating the cortical bone phenotype in older mice.
Article
Endocrinology & Metabolism
Hannah Collden, Malin Hagberg Thulin, Andreas Landin, Karin Horkeby, Marie Lagerquist, Jianyao Wu, Karin H. Nilsson, Louise Grahnemo, Matti Poutanen, Henrik Ryberg, Liesbeth Vandenput, Claes Ohlsson
Summary: Progesterone levels in males with advanced prostate cancer have been identified as a potential predictor for treatment effect. This study found that progesterone levels remained high in orchiectomized male mice, with the highest levels observed in white adipose tissue and the gastrointestinal tract. Additionally, dietary intake of progesterone, particularly from female animals of reproductive age, was found to contribute to tissue levels of progesterone in male mice. These findings suggest that food containing high levels of progesterone may be a significant source of progesterone in males, possibly affecting men undergoing androgen deprivation therapy for prostate cancer.