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https://www.readbyqxmd.com/read/29222266/impact-of-bone-disease-and-pain-in-thalassemia
#1
REVIEW
Antonio Piga
Conventional treatment of thalassemia, namely regular blood transfusion and iron chelation, improves perspectives and quality of life; however, successful treatment leads to more time in which long-term complications such as bone disease can develop. Thalassemia bone disease (TBD) is unique: all aspects, from bone anatomy and bone quality to mineral density, may be affected, with important morbidity including osteoporosis, fractures, spinal deformities, nerve compression, and pain. Clinical presentations include growth impairment, rickets-like features, back pain, spinal deformities, any sign of nerve compression, severe osteoporosis, and fragility fractures...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29216705/-functional-results-of-open-wedge-osteotomies-in-lower-limb-angular-deformities-in-teenagers
#2
C Orellana-Reta, L A Valdez-Jiménez
OBJECTIVE: The aim of this study was to evaluate the functional and radiographic results of adolescent patients with angular deformities of the pelvic limbs treated with an open wedge osteotomy system. MATERIAL AND METHODS: Observational, prospective, analytical and cross-sectional study of patients with angular deformity of the pelvic limbs treated with an open wedge osteotomy. We made a radiographic evaluation of the femorotibial angle, MAD angle, lower limb discrepancy, and pre- and postoperative degrees of the rotational center of deformity (CORA), as well as a telephone survey of the postoperative functional evaluation IKDC 2000...
May 2017: Acta Ortopédica Mexicana
https://www.readbyqxmd.com/read/29213174/x-linked-hypophosphatemic-rickets-phex-mutation-a-case-report-and-literature-review
#3
Badi Alenazi, M A Maleque Molla, Abdullah Alshaya, Mahmoud Saleh
Hypophosphatemic rickets is a rare form of rickets that affect children. The diagnosis requires high index of suspicion. We report a case of Hypophosphatemic rickets in 18-month-old Saudi boy presented with delayed walking and lower limb deformity. The diagnosis was confirmed by bone profile, radiological study and genetic testing, which reveled PHEX mutation. The patient was successfully treated by phosphate supplement.
2017: Sudanese Journal of Paediatrics
https://www.readbyqxmd.com/read/29201067/hereditary-vitamin-d-resistant-rickets-clinical-laboratory-and-genetic-characteristics-of-2-iranian-siblings
#4
Ali A Ghazi, Azita Zadeh-Vakili, Marjan Zarif Yeganeh, Shahram Alamdari, Atieh Amouzegar, Ali Akbar Khorsandi, Alireza Amirbaigloo, Fereidoun Azizi
Purpose and Methods: Hereditary vitamin D resistant rickets (HVDRR) is a rare disease that presents with signs and symptoms of rickets, alopecia, and growth retardation during the early years of life. The disease is caused by mutations in the vitamin D receptor (VDR) gene, which leads to unresponsiveness of the mutant receptor to 1-25(OH) 2 D3. The disease is transmitted as an autosomal recessive disorder and is found with equal frequency in males and females. The disease is rarely encountered and only about 100 cases are reported so far...
July 2017: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29190002/dentoalveolar-abscesses-not-associated-with-caries-or-trauma-a-diagnostic-hallmark-of-hypophosphatemic-rickets-initially-misdiagnosed-as-hypochondroplasia
#5
Silvia Elena Yacarini Paredes, Raquel Assed Bezerra Segato, Leila Daher Moreira, Alcides Moreira, Kranya Victoria Díaz Serrano, Clarissa Teles Rodrigues, Luciana Yamamoto Almeida, Jorge Esquiche León
Hypophosphatemic rickets is a rare genetic disorder involving the regulation of fibroblast growth factor 23 (FGF23), a phosphaturic agent, clinically showing bowing of the legs, short stature and dentoalveolar abscesses. A 7-year-old boy, with previous hypochondroplasia diagnosis, was referred to our pediatric dentistry clinic presenting short stature, bone deformities and sinus tracts at deciduous teeth apex levels not related with trauma, restorations or dental caries. After deciduous teeth extraction, due to root resorption and mobility, light microscopy exhibited typical hypophosphatemic dentin, and micro-computed tomography revealed tubular clefts and porosities throughout the teeth...
November 30, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/29182508/ethnic-disparities-in-the-dietary-requirement-for-vitamin-d-during-pregnancy-considerations-for-nutrition-policy-and-research
#6
Karen M O'Callaghan, Mairead E Kiely
Despite the inverse association between skin colour and efficiency of cutaneous vitamin D synthesis, in addition to the widely accepted racial disparity in vitamin D status, populations of ethnic minority are understudied in terms of setting target serum 25-hydroxyvitamin D concentrations and corresponding dietary requirements for vitamin D. In minority groups, prevention of vitamin D deficiency on a population basis is challenging due to the lack of clarity surrounding the metabolism and transport of vitamin D...
November 28, 2017: Proceedings of the Nutrition Society
https://www.readbyqxmd.com/read/29179169/-bone-remodeling-through-a-phosphate-metabolism
#7
Takeshi Miyamoto
Phosphorus is the second abundant mineral stored in bones, and disturbance of phosphate metabolisms results in various disease developments such as hypophosphatemic rickets. Blood phosphorus levels are regulated by dietary intake or its absorption from intestine, proximal tubular reabsorption, and number of factors plays roles for maintaining phosphate homeostasis. Vitamin D stimulates intestinal phosphorus absorption, and phosphorus promotes FGF23 secretion from osteocytes. FGF23 inhibits Cyp27b1, an enzyme to produce an active vitamin D3, 1,25(OH)2D3, through FGF receptor/Klotho complex...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/29178404/the-impact-of-rickets-on-growth-and-morbidity-during-recovery-among-children-with-complicated-severe-acute-malnutrition-in-kenya-a-cohort-study
#8
Moses M Ngari, Johnstone Thitiri, Laura Mwalekwa, Molline Timbwa, Per Ole Iversen, Greg W Fegan, James A Berkley
The effects of rickets on children recovery from severe acute malnutrition (SAM) are unknown. Rickets may affect both growth and susceptibility to infectious diseases. We investigated the associations of clinically diagnosed rickets with life-threatening events and anthropometric recovery during 1 year following inpatient treatment for complicated SAM. This was a secondary analysis of clinical trial data among non-human immunodeficiency virus-infected Kenyan children with complicated SAM (2-59 months) followed for 1 year posthospital discharge (ClinicalTrials...
November 27, 2017: Maternal & Child Nutrition
https://www.readbyqxmd.com/read/29177537/distinguishing-child-abuse-fractures-from-rickets
#9
EDITORIAL
Alan E Oestreich
No abstract text is available yet for this article.
November 24, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/29169993/impact-of-vitamin-d-on-pregnancy-related-disorders-and-on-offspring-outcome
#10
REVIEW
Karoline von Websky, Ahmed Abdallah Hasan, Christoph Reichetzeder, Oleg Tsuprykov, Berthold Hocher
Observational studies from all over the world continue to find high prevalence rates of vitamin D insufficiency and deficiency in many populations, including pregnant women. Beyond its classical function as a regulator of calcium and phosphate metabolism, vitamin D elicits numerous effects in the human body. Current evidence highlights a vital role of vitamin D in mammalian gestation. During pregnancy, adaptations in maternal vitamin D metabolism lead to a physiologic increase of vitamin D levels, mainly because of an increased renal production, although other potential sources like the placenta are being discussed...
November 21, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29150647/impact-of-multidecadal-climate-variability-on-united-kingdom-rickets-rates
#11
Haris Majeed, G W K Moore
Children who receive inadequate exposure to sunlight have reduced levels of vitamin D, resulting in rickets, a disease that is characterized by bone deformity, stunted growth, and long term pronounced disability. The United Kingdom rickets incidence rates declined from the early 1960's to mid-1990's, after which there was a dramatic increase. The reason for this change is not well understood. Here we show that an important low frequency mode of climate variability, the Atlantic Multidecadal Oscillation (AMO), with a period of ~60-80 years, has an impact on rickets incidence rates in the United Kingdom through changes in sea level pressure, cloud cover and sunshine duration...
November 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29144406/evaluating-differences-in-aluminum-exposure-through-parenteral-nutrition-in-neonatal-morbidities
#12
Megan Fortenberry, Lela Hernandez, Jacob Morton
Aluminum is a common contaminant in many components of parenteral nutrition, especially calcium and phosphate additives. Although long-term effects have been described in the literature, short-term effects are not well-known. Currently, the Food and Drug Administration recommends maintaining aluminum at <5 mcg/kg/day. This was a single center, retrospective case-control study of 102 neonatal intensive care unit patients. Patients were included if they had a diagnosis of necrotizing enterocolitis, rickets/osteopenia, or seizures and received at least 14 days of parenteral nutrition...
November 16, 2017: Nutrients
https://www.readbyqxmd.com/read/29143140/impact-of-conventional-medical-therapy-on-bone-mineral-density-and-bone-turnover-in-adult-patients-with-x-linked-hypophosphatemia-a-6-year-prospective-cohort-study
#13
Vikram Vinod Shanbhogue, Stinus Hansen, Niklas Rye Jørgensen, Signe Sparre Beck-Nielsen
X-linked hypophosphatemia (XLH) is a rare, inheritable disorder manifesting as rickets in children and osteomalacia in adults. While conventional medical treatment with oral phosphate and alfacalcidol is recommended in childhood, it is undecided whether adults should continue therapy. The aim of this 6-year prospective study was to determine the impact of conventional medical treatment on areal bone mineral density (aBMD), bone turnover markers (BTMs) and measures of calcium homeostasis in 27 adult patients with XLH, 11 of whom received medical treatment...
November 15, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29141319/-homozygous-ectonucleotide-pyrophosphatase-phosphodiesterase-1-variants-in-a-girl-with-hypophosphatemic-rickets-and-literature-review
#14
Z Q Liu, X B Chen, F Y Song, K Gao, M F Qiu, Y Qian, M Du
Objective: To investigate the clinical features and genetic characteristics of patients with ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene variants. Method: The clinical data of a patient with ENPP1 homozygous variants from Capital Institute of Pediatrics was collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and PubMed by using search term "ENPP1" , "hypophosphatemic rickets" ...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29130721/the-nutritional-limitations-of-plant-based-beverages-in-infancy-and-childhood
#15
Isidro Vitoria
Breastfeeding, infant formula and cow's milk are basic foods in infant nutrition. However, they are being increasingly replaced either totally or partially by plant-based beverages.The composition of 164 plant-based beverages available in Spain was reviewed based on the nutritional labeling of the package and the manufacturers' webpages. This was compared to the composition of cow's milk and infant formula. In addition, the nutritional disease associated with consumption of plant-based beverages in infants and children was reviewed by means of a literature search in Medline and Embase since 1990 based on the key words "plant-based beverages" or "rice beverages" or "almond beverages" or "soy beverages" and "infant" or "child"...
October 24, 2017: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
https://www.readbyqxmd.com/read/29127362/functional-analysis-of-vdr-gene-mutation-r343h-in-a-child-with-vitamin-d-resistant-rickets-with-alopecia
#16
Min-Hua Tseng, Shih-Ming Huang, Fu-Sung Lo, Jing-Long Huang, Chih-Jen Cheng, Hwei-Jen Lee, Shih-Hua Lin
The functional study of different mutations on vitamin D receptor (VDR) gene causing hereditary vitamin D-resistant rickets (HVDRR) remains limited. This study was to determine the VDR mutation and the mechanisms of this mutation-causing phenotype in a family with HVDRR and alopecia. Phenotype was analyzed, and in vitro functional studies were performed. The proband and his affected sister exhibited typical HVDRR with alopecia, and their biochemical and radiographic abnormalities but not alopecia responded to supraphysiological doses of active vitamin D3...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29118315/balancing-medical-and-non-accidental-causes-of-multiple-fractures-in-a-child-with-progressive-familial-intrahepatic-cholestasis
#17
Hisham Abdelrhim, Sami Khan, Paul Heaton, Rajeev Peeka
BACKGROUND All medical practitioners must be vigilant for child abuse and neglect (CAN) so that opportunities to intervene, prevent, and improve outcomes are not missed. However, child abuse is often overlooked in practice, and no sign or pattern of presentation of fractures is absolutely specific for child abuse. CASE REPORT Here, we present the case of a 22-month-old girl with progressive familial intrahepatic cholestasis (PFIC) type 2 who presented with "red flag" fractures indicative of child abuse. Biochemistry showed vitamin D deficiency and a skeletal survey revealed rickets and multiple pathological fractures...
November 9, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29116606/fanconi-syndrome-and-neonatal-diabetes-phenotypic-heterogeneity-in-patients-with-glut2-defects
#18
Priyanka Khandelwal, Aditi Sinha, Vandana Jain, Jayne Houghton, Pankaj Hari, Arvind Bagga
Fanconi-Bickel syndrome, caused by mutations in SLC2A2 encoding the glucose transporter 2 (GLUT2), is characterized by generalized proximal renal tubular dysfunction manifesting in late infancy. We describe phenotypic heterogeneity of Fanconi-Bickel syndrome in three siblings, including early and atypical presentation with transient neonatal diabetes mellitus in one. The second-born of a non-consanguineous couple, evaluated for polyuria and growth retardation, had rickets, hepatomegaly and proximal tubular dysfunction from 4 to 6  months of age...
November 8, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/29114374/prevention-of-chemotherapy-induced-nephrotoxicity-in-children-with-cancer
#19
REVIEW
Fatemeh Ghane Sharbaf, Hamid Farhangi, Farahnak Assadi
Children with cancer treated with cytotoxic drugs are frequently at risk of developing renal dysfunction. The cytotoxic drugs that are widely used for cancer treatment in children are cisplatin (CPL), ifosfamide (IFO), carboplatin, and methotrexate (MTX). Mechanisms of anticancer drug-induced renal disorders are different and include acute kidney injury (AKI), tubulointerstitial disease, vascular damage, hemolytic uremic syndrome (HUS), and intrarenal obstruction. CPL nephrotoxicity is dose-related and is often demonstrated with hypomagnesemia, hypokalemia, and impaired renal function with rising serum creatinine and blood urea nitrogen levels...
2017: International Journal of Preventive Medicine
https://www.readbyqxmd.com/read/29103383/milk-vitamin-d-in-relation-to-the-adequate-intake-for-0-6-month-old-infants-a-study-in-lactating-women-with-different-cultural-backgrounds-living-at-different-latitudes
#20
Eline Stoutjesdijk, Anne Schaafsma, Nguyen V Nhien, Geok Lin Khor, Ido P Kema, Bruce W Hollis, D A Janneke Dijck-Brouwer, Frits A J Muskiet
Breast-fed infants are susceptible to vitamin D deficiency rickets. The current vitamin D 'adequate intake' (AI) for 0-6-month-old infants is 10 µg/d, corresponding with a human milk antirachitic activity (ARA) of 513 IU/l. We were particularly interested to see whether milk ARA of mothers with lifetime abundant sunlight exposure reaches the AI. We measured milk ARA of lactating mothers with different cultural backgrounds, living at different latitudes. Mature milk was derived from 181 lactating women in the Netherlands, Curaçao, Vietnam, Malaysia and Tanzania...
November 6, 2017: British Journal of Nutrition
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