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https://www.readbyqxmd.com/read/30109410/hereditary-hypophosphatemic-rickets-with-hypercalciuria-pathophysiology-clinical-presentation-diagnosis-and-therapy
#1
REVIEW
Clemens Bergwitz, Ken-Ichi Miyamoto
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH; OMIM: 241530) is a rare autosomal recessive disorder with an estimated prevalence of 1:250,000 that was originally described by Tieder et al. Individuals with HHRH carry compound-heterozygous or homozygous (comp/hom) loss-of-function mutations in the sodium-phosphate co-transporter NPT2c. These mutations result in the development of urinary phosphate (Pi) wasting and hypophosphatemic rickets, bowing, and short stature, as well as appropriately elevated 1,25(OH)2 D levels, which sets this fibroblast growth factor 23 (FGF23)-independent disorder apart from the more common X-linked hypophosphatemia...
August 14, 2018: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/30106982/modifiable-factors-associated-with-bone-health-in-malaysian-adolescents-utilising-calcaneus-quantitative-ultrasound
#2
Mohamed S Zulfarina, Razinah Sharif, Syed-Badrul Syarifah-Noratiqah, Ahmad M Sharkawi, Zaris-Sm Aqilah-Sm, Sabarul-Afian Mokhtar, Shuid A Nazrun, Isa Naina-Mohamed
Maximizing bone mineral accrual to attain an optimal peak bone mass (PBM), particularly during adolescence, appears to be an effective protective strategy in the prevention of osteoporosis. This study aimed to evaluate the influence of physical activity (PA), fat mass (FM), lean mass (LM), body mass index (BMI), calcium, or combination of vitamin D supplement intake, smoking and alcohol drinking status on bone health assessed by calcaneus quantitative ultrasound (QUS) in a healthy adolescent population. The participants comprised of 920 male and female secondary school adolescents aged 15-17 years old...
2018: PloS One
https://www.readbyqxmd.com/read/30103784/exploring-causality-in-the-association-between-circulating-25-hydroxyvitamin-d-and-colorectal-cancer-risk-a-large-mendelian-randomisation-study
#3
Yazhou He, Maria Timofeeva, Susan M Farrington, Peter Vaughan-Shaw, Victoria Svinti, Marion Walker, Lina Zgaga, Xiangrui Meng, Xue Li, Athina Spiliopoulou, Xia Jiang, Elina Hyppönen, Peter Kraft, Douglas P Kiel, Caroline Hayward, Archie Campbell, David Porteous, Katarina Vucic, Iva Kirac, Masa Filipovic, Sarah E Harris, Ian J Deary, Richard Houlston, Ian P Tomlinson, Harry Campbell, Evropi Theodoratou, Malcolm G Dunlop
BACKGROUND: Whilst observational studies establish that lower plasma 25-hydroxyvitamin D (25-OHD) levels are associated with higher risk of colorectal cancer (CRC), establishing causality has proven challenging. Since vitamin D is modifiable, these observations have substantial clinical and public health implications. Indeed, many health agencies already recommend supplemental vitamin D. Here, we explore causality in a large Mendelian randomisation (MR) study using an improved genetic instrument for circulating 25-OHD...
August 14, 2018: BMC Medicine
https://www.readbyqxmd.com/read/30101991/nutrition-and-inflammatory-biomarkers-in-chronic-pancreatitis-patients
#4
Julia B Greer, Phil Greer, Bimaljit S Sandhu, Samer Alkaade, C Mel Wilcox, Michelle A Anderson, Stuart Sherman, Timothy B Gardner, Michele D Lewis, Nalini M Guda, Thiruvengadam Muniraj, Darwin Conwell, Gregory A Cote, Christopher E Forsmark, Peter A Banks, Gong Tang, Kim Stello, Andres Gelrud, Randall E Brand, Adam Slivka, David C Whitcomb, Dhiraj Yadav
BACKGROUND: Chronic pancreatitis (CP) patients frequently experience malabsorption and maldigestion, leading to micronutrient and macronutrient deficiencies. Comorbid diabetes and lifestyle habits, such as alcohol consumption, may impact nutrition status. METHODS: We compared micronutrient antioxidant, bone metabolism, serum protein, and inflammatory marker levels in 301 CP patients and 266 controls with no known pancreatic disease. We analyzed serum prealbumin and retinol binding protein; vitamins A, D, E, and B12; osteocalcin; tumor necrosis factor-α; and C-reactive protein (CRP)...
August 13, 2018: Nutrition in Clinical Practice
https://www.readbyqxmd.com/read/30101934/a-case-of-severe-osteomalacia-with-dent-disease-caused-by-a-novel-intronic-mutation-of-the-clcn5-gene
#5
Ayumi Matsumoto, Isao Matsui, Takayasu Mori, Yusuke Sakaguchi, Masayuki Mizui, Yoshiyasu Ueda, Atsushi Takahashi, Yohei Doi, Karin Shimada, Satoshi Yamaguchi, Keiichi Kubota, Nobuhiro Hashimoto, Tatsufumi Oka, Yoshitsugu Takabatake, Eisei Sohara, Takayuki Hamano, Shinichi Uchida, Yoshitaka Isaka
We present a case of Dent disease caused by a novel intronic mutation, 1348-1G>A, of the chloride voltage-gated channel 5 (CLCN5) gene. Cultured proximal tubule cells obtained from the patient showed impaired acidification of the endosome and/or lysosome, indicating that the 1348-1G>A mutation was indeed the cause of Dent disease. Although the prevalence of osteomalacia in Dent disease is low in Japan, several factors-including poor medication adherence-caused severe osteomalacia in the current case. Oral supplementation with calcium and native/active vitamin D therapy, with careful attention to medication adherence, led to the improvement of the patient's bone status...
August 10, 2018: Internal Medicine
https://www.readbyqxmd.com/read/30100511/effect-of-rumen-protected-b-vitamins-and-choline-supplementation-on-health-production-and-reproduction-in-transition-dairy-cows
#6
E I Morrison, H Reinhardt, H Leclerc, T J Devries, S J LeBlanc
The objectives were to determine the effects of a rumen-protected blend of B vitamins and choline (RPBC) on the incidence of health disorders, milk yield, and reproduction in early lactation and the effects on gene expression and liver fat infiltration. A randomized controlled trial in 3 commercial dairy herds (n = 1,346 cows with group as the experimental unit; experiment 1) and a university research herd (n = 50 cows with cow as the experimental unit; experiment 2) evaluated the use of 100 g/cow per d of commercially available proprietary RPBC supplement (Transition VB, Jefo, St...
August 9, 2018: Journal of Dairy Science
https://www.readbyqxmd.com/read/30099788/vitamin-d-status-and-risk-of-infections-after-liver-transplantation-in-the-swiss-transplant-cohort-study
#7
Peter W Schreiber, Heike A Bischoff-Ferrari, Katia Boggian, Christian van Delden, Natalia Enriquez, Thomas Fehr, Christian Garzoni, Hans H Hirsch, Cédric Hirzel, Oriol Manuel, Pascal Meylan, Lanja Saleh, Maja Weisser, Nicolas J Mueller
MAIN PROBLEM: Increasing evidence indicates a role of vitamin D in the immune system affecting response to infections. We aimed to characterize the role of vitamin D status, i.e. deficiency (25-OH vitamin D [25-OHD] < 50nmol/l) and no deficiency (25-OHD ≥ 50nmol/l) in incident infections after liver transplantation. METHODS: In 135 liver transplant recipients blood samples drawn at time of liver transplantation and 6 months afterwards were used to determine 25-OHD levels...
August 12, 2018: Transplant International: Official Journal of the European Society for Organ Transplantation
https://www.readbyqxmd.com/read/30098446/influence-of-dietary-inosine-and-vitamin-c-supplementation-on-growth-blood-chemistry-oxidative-stress-innate-and-adaptive-immune-responses-of-red-sea-bream-pagrus-major-juvenile
#8
Md Sakhawat Hossain, Shunsuke Koshio, Manabu Ishikawa, Saichiro Yokoyama, Nadia Mahjabin Sony, Serge Dossou, Weilong Wang
Both inosine (INO) and vitamin C (l-ascorbic acid, AsA) play important roles in growth performance, feed utilization and health status of fish. Therefore, a 56 days feeding trial was conducted to determine the interactive effects of dietary INO and AsA on growth performance, oxidative status, innate and adaptive immune responses of red sea bream. Fish growth performance and fed utilization parameters were significantly affected by dietary INO supplementation but not by AsA. Fish fed diets with INO at 4 g kg-1 diet in combination of high and low levels of AsA (3...
August 9, 2018: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/30097703/-osteomalacia-clinical-aspects-diagnostics-and-treatment
#9
M Tiefenbach, M Scheel, A Maier, M Gehlen, M Schwarz-Eywill, M Werner, U Siebers-Renelt, M Hammer
Osteomalacia is a bone disease caused by impaired skeletal mineralization. Vitamin D dependent types have to be distinguished from hypophosphatemic forms. Typical signs and symptoms include diffuse bone pain, muscle weakness and fragility fractures. The fracture pattern in osteomalacia is typically different from that of osteoporosis. Fragility fractures of the pelvis, sacrum, distal parts of the foot, proximal tibia and ribs are indicators for osteomalacia, whereas femoral neck and vertebral fractures (wedged vertebra, fish vertebra, vertebra plana and cover plate impression fractures) are typical for osteoporosis...
August 10, 2018: Zeitschrift Für Rheumatologie
https://www.readbyqxmd.com/read/30095145/the-effect-of-high-dose-vitamin-d3-on-physical-performance-in-frail-older-adults-a-feasibility-study
#10
N W Bray, T J Doherty, M Montero-Odasso
BACKGROUND: Vitamin D deficiency is ubiquitous in frailty but the effectiveness of vitamin D supplementation to improve outcomes in frail individuals is unclear. It has been postulated that higher than the current recommended doses (800 IU/day) may be needed to achieve a neuromuscular effect in frail individuals. OBJECTIVES: 1) determine if 4000 IU per day of vitamin D3 is safe for frail older adults; and 2) establish the efficacy of this dose to improve physical performance outcomes in this population...
2018: Journal of Frailty & Aging
https://www.readbyqxmd.com/read/30095022/the-effect-of-vitamin-d2-supplementation-on-muscle-strength-in-early-postmenopausal-women-a-randomized-double-blind-placebo-controlled-trial
#11
C Suebthawinkul, K Panyakhamlerd, P Yotnuengnit, A Suwan, N Chaiyasit, N Taechakraichana
BACKGROUND: Low serum 25-hydroxyvitamin D [25(OH)D] has been shown to be associated with low muscle mass and loss of muscle strength, resulting in increased disability and frailty in older men and women. Vitamin D deficiency is common in postmenopausal women. The primary objective of the present study was to evaluate the effects of vitamin D supplementation on muscle strength in early postmenopausal women. The effects of vitamin D2 supplementation on muscle mass and muscle cross-sectional area (CSA) were secondarily investigated...
August 10, 2018: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/30094402/l-carnitine-suppresses-loss-of-skeletal-muscle-mass-in-patients-with-liver-cirrhosis
#12
Masatsugu Ohara, Koji Ogawa, Goki Suda, Megumi Kimura, Osamu Maehara, Tomoe Shimazaki, Kazuharu Suzuki, Akihisa Nakamura, Machiko Umemura, Takaaki Izumi, Naoki Kawagishi, Masato Nakai, Takuya Sho, Mitsuteru Natsuizaka, Kenichi Morikawa, Shunsuke Ohnishi, Naoya Sakamoto
Liver cirrhosis (LC) is a major cause of secondary sarcopenia. Sarcopenia makes the prognosis worse; thus, novel therapeutic options for sarcopenia in patients with LC are urgently required as they are currently limited. In this retrospective study, 158 patients with LC were screened, and 35 of those patients who were treated with L-carnitine for more than 6 months and for whom skeletal muscle mass changes could be evaluated by computer tomography were enrolled. Of the 158 patients, 79 patients who did not receive L-carnitine supplementation served as controls...
August 2018: Hepatology communications
https://www.readbyqxmd.com/read/30093913/vitamin-d-supplementation-and-serum-heat-shock-protein-60-levels-in-patients-with-coronary-heart-disease-a-randomized-clinical-trial
#13
Leila Sadat Bahrami, Seyed Hashem Sezavar Seyedi Jandaghi, Leila Janani, Mina Pahlavan, Seyed Mostafa Arabi, Homa Sadeghi, Mohammadreza Vafa
Background: The aim in this study was to investigate the effect of vitamin D (25(OH)D3 ) supplementation on heat shock protein 60 (HSP 60) and other inflammatory markers (IL-17, TNF-α, PAB) in patients with coronary heart disease (CHD). Methods: In this double-blind, randomized clinical trial, we recruited 80 male and female patients aged 30-60 with CHD and 25(OH)D3 serum levels < 30 ng/ml from Rasool-e-Akram Hospital in Tehran, Iran. Serum levels of HSP 60 as primary outcome, and 25(OH)D3, IL-17, TNF-α, PAB, lipid profiles and parathyroid hormone (PTH) as secondary outcomes were measured at baseline and post-intervention...
2018: Nutrition & Metabolism
https://www.readbyqxmd.com/read/30093866/one-year-consumption-of-a-mediterranean-like-dietary-pattern-with-vitamin-d3-supplements-induced-small-scale-but-extensive-changes-of-immune-cell-phenotype-co-receptor-expression-and-innate-immune-responses-in-healthy-elderly-subjects-results-from-the-united
#14
Monica Maijo, Kamal Ivory, Sarah J Clements, Jack R Dainty, Amy Jennings, Rachel Gillings, Susan Fairweather-Tait, Massimo Gulisano, Aurelia Santoro, Claudio Franceschi, Simon R Carding, Claudio Nicoletti
Amongst the major features of aging are chronic low grade inflammation and a decline in immune function. The Mediterranean diet (MedDiet) is considered to be a valuable tool to improve health status, and although beneficial effects have been reported, to date, immunological outcomes have not been extensively studied. We aimed to test the hypothesis that 1 year of a tailored intervention based on the MedDiet with vitamin D (10 μg/day) would improve innate immune responses in healthy elderly subjects (65-79 years) from the English cohort (272 subjects recruited) of the NU-AGE randomized, controlled study (clinicaltrials...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/30093293/vitamin-d-status-correlates-with-the-markers-of-cystic-fibrosis-related-pulmonary-disease
#15
Wasim Ahmad Wani, Mudasir Nazir, Javeed Iqbal Bhat, Ehsan-Ul-Haq Malik, Qazi Iqbal Ahmad, Bashir Ahmad Charoo, Syed Wajid Ali
BACKGROUND: The prevalence of Vitamin D deficiency remains high in cystic fibrosis despite daily supplementation. Vitamin D as an immunomodulator has been related to lower respiratory tract infections in children. The present study was undertaken to examine the association between vitamin D status and markers of cystic fibrosis-related pulmonary disease including exacerbations, bacterial colonization and pulmonary function. METHODS: The study includes review of records of 51 cystic fibrosis patients...
July 19, 2018: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/30092157/three-monthly-bolus-vitamin-d-supplements-1000-vs-400-iu-day-for-prevention-of-bone-loss-in-children-with-difficult-to-treat-nephrotic-syndrome-a-randomised-clinical-trial
#16
Dhurva Nandan Singh, Sriram Krishnamurthy, Sadish Kumar Kamalanathan, K T Harichandrakumar, Palanisamy Sivamurukan
BACKGROUND: Nephrotic syndrome (NS) in children is one of the most common chronic diseases with a remitting and relapsing course. Glucocorticoids (prednisolone) are considered to be the treatment of choice but are associated with osteoporosis. There are no uniform consensus guidelines regarding the optimum dose of calcium and vitamin D for osteoprotection. Some authorities suggest a daily dose of 1000 IU vitamin D for children for osteoprotection, while others suggest a daily dose of 400 IU...
August 9, 2018: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/30090970/vitamin-d-deficiency-has-a-negative-impact-on-cetuximab-mediated-cellular-cytotoxicity-against-human-colon-carcinoma-cells
#17
Lorenzo Mortara, Marzia B Gariboldi, Annalisa Bosi, Marco Bregni, Graziella Pinotti, Luigina Guasti, Alessandro Squizzato, Douglas M Noonan, Elena Monti, Leonardo Campiotti
BACKGROUND: Hypovitaminosis D is associated with an adverse prognosis in colon cancer patients, possibly due to the effects of the vitamin on the immune system. Antibody-dependent cell-mediated cytotoxicity (ADCC) significantly contributes to the anti-tumor effects of monoclonal antibodies, including cetuximab, an epidermal growth factor receptor (EGFR)-targeted monoclonal antibody that is frequently added to chemotherapy in the treatment of colon cancer. OBJECTIVE: The present study evaluates the association between vitamin D serum levels and the ability of ex vivo NK cells to support cetuximab-mediated ADCC in colon cancer cell lines...
August 9, 2018: Targeted Oncology
https://www.readbyqxmd.com/read/30089890/vitamin-d-diet-and-lifestyle-in-a-chronic-sci-population
#18
Nicholas E Koutrakis, Rebekah L Goldstein, Palak Walia, Madeline M Polak, Antonio A Lazzari, Carlos G Tun, Jaime E Hart, Eric Garshick
STUDY DESIGN: Cross-sectional study. OBJECTIVES: Determine dietary, lifestyle, and clinical factors associated with plasma 25-hydroxyvitamin D [25(OH)D] levels in persons with chronic spinal cord injury (SCI). SETTING: Veterans Affairs Medical Center in Boston, MA. METHODS: 174 participants completed food frequency and health questionnaires, provided a blood sample, and underwent dual x-ray absorptiometry (DXA) to assess %total body fat...
August 8, 2018: Spinal Cord
https://www.readbyqxmd.com/read/30089075/vitamin-d-supplementation-in-pregnancy-and-lactation-and-infant-growth
#19
Daniel E Roth, Shaun K Morris, Stanley Zlotkin, Alison D Gernand, Tahmeed Ahmed, Shaila S Shanta, Eszter Papp, Jill Korsiak, Joy Shi, M Munirul Islam, Ishrat Jahan, Farhana K Keya, Andrew R Willan, Rosanna Weksberg, Minhazul Mohsin, Qazi S Rahman, Prakesh S Shah, Kellie E Murphy, Jennifer Stimec, Lisa G Pell, Huma Qamar, Abdullah Al Mahmud
Background It is unclear whether maternal vitamin D supplementation during pregnancy and lactation improves fetal and infant growth in regions where vitamin D deficiency is common. Methods We conducted a randomized, double-blind, placebo-controlled trial in Bangladesh to assess the effects of weekly prenatal vitamin D supplementation (from 17 to 24 weeks of gestation until birth) and postpartum vitamin D supplementation on the primary outcome of infants' length-for-age z scores at 1 year according to World Health Organization (WHO) child growth standards...
August 9, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/30087152/scurvy-still-a-threat-in-the-well-fed-first-world
#20
REVIEW
Giulia Ceglie, Giulia Macchiarulo, Maria Rosaria Marchili, Alessandra Marchesi, Lelia Rotondi Aufiero, Chiara Di Camillo, Alberto Villani
We report three cases of scurvy in previously healthy children referred to us for leg pain and refusal to walk. All children had no significant medical history, symptoms had started months before and subtly advanced. Two of them presented with gingival hyperplasia and petechiae, another one reported night sweats and gingival bleeding in the past few weeks. Two had vitamin D deficiency, and all had microcytic anaemia (in one case requiring transfusional support). A nutritional screening revealed low or undetectable levels of ascorbic acid...
August 7, 2018: Archives of Disease in Childhood
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