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https://www.readbyqxmd.com/read/28341978/antegrade-thoracic-endovascular-aortic-repair-using-an-ascending-aortofemoral-through-and-through-wire-technique-for-a-severely-tortuous-aorta-associated-with-rickets
#1
Atsushi Morishita, Kazuhiko Hanzawa, Seiichiro Katahira, Takeshi Hoshino, Hideyuki Tomioka
BACKGROUND: Severe aortic tortuosity of the access route often prevents successful complete exclusion of an aneurysm in thoracic endovascular aortic repair (TEVAR). CASE PRESENTATION: We performed antegrade TEVAR on a 79-year-old man with right hemiparesis. We deployed the stent graft from the ascending aorta with a tube graft conduit to treat a descending thoracic aortic aneurysm associated with rickets and multiple comorbidities. Although the application of a ministernotomy diminished the potential advantages of endovascular treatment in view of less invasive surgery, antegrade TEVAR using an ascending aortofemoral through-and-through wire technique was a good option in this patient because a conventional retrograde approach was not feasible due to his severely tortuous aorta...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28315917/a-pediatric-hypophosphatemic-rickets-on-mri-99m-tc-mdp-bone-scan-and-18-f-fdg-pet-ct
#2
Changyun Xu, Chao Ma, Yongli Bai
We present a case of a 13 years old boy who was hospitalized with a 10 months history of progressive pain and weakness in his lower extremities. The laboratory tests revealed slightly decreased phosphate and 25-hydroxyvitamin D3, high alkaline phosphatase, normal calcium and parathyroid hormone (PTH). Magnetic resonance imaging (MRI) showed multiple patchy lesions indicating bone destruction in the metaphyses and epiphyses of the left knee. Fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography ((18)F-FDG PET/CT) revealed a generalized decrease of bone density in axial bones with slightly increased (18)F-FDG metabolism...
March 20, 2017: Hellenic Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28301319/hereditary-vitamin-d-resistant-rickets-in-lebanese-patients-the-p-r391s-and-p-h397p-variants-have-different-phenotypes
#3
Rabih Andary, Abdul-Karim El-Hage-Sleiman, Theresa Farhat, Sami Sanjad, Georges Nemer
BACKGROUND: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene. Variable phenotypes have been associated with these mutations, and some of these were linked to the effects they have on the interacting partners of VDR, mainly the retinoic X receptor (RXR). METHODS: We examined four patients with HVDRR from three unrelated Lebanese families. All parents were consanguineous with normal phenotype...
March 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28288232/-tenofovir-associated-fanconi-s-syndrome-and-rickets-in-a-hiv-infected-girl
#4
Marcela Zúñiga, Armando Galindo, María Isabel Galaz, Maritza Vivanco, Patricio Romero, Paulina Balboa, Claudia Torrejón
Tenofovir (TDF) is an inhibitor of reverse transcriptase nucleotide analogue, although it has good tolerability and high anti-retroviral activity, its effect on the kidney has been a concern. OBJECTIVE: To describe a girl infected with HIV who presented Fanconi syndrome during antiretroviral therapy with TDF. CLINICAL CASE: We describe a HIV-1-infected girl, who after 18 months treatment with TDF presented loss of strength and pain of the lower extremities with functional impairment...
February 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28285303/bartter-syndrome-with-nephrogenic-diabetes-insipidus-and-vitamin-d-resistant-rickets
#5
Sriram Krishnamurthy, Anbazhagan Jagadeesh
No abstract text is available yet for this article.
February 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28283938/seasonal-variation-in-internet-searches-for-vitamin-d
#6
Rebecca J Moon, Elizabeth M Curtis, Justin H Davies, Cyrus Cooper, Nicholas C Harvey
Internet search rates for "vitamin D" were explored using Google Trends. Search rates increased from 2004 until 2010 and thereafter displayed a seasonal pattern peaking in late winter. This knowledge could help guide the timing of public health interventions aimed at managing vitamin D deficiency. PURPOSE: The Internet is an important source of health information. Analysis of Internet search activity rates can provide information on disease epidemiology, health related behaviors and public interest...
December 2017: Archives of Osteoporosis
https://www.readbyqxmd.com/read/28276300/value-of-renal-biopsy-in-diagnosing-infantile-nephropathic-cystinosis-associated-with-secondary-nephrogenic-diabetes-insipidus
#7
Emily Joyce, Jacqueline Ho, Areeg El-Gharbawy, Cláudia M Salgado, Sarangarajan Ranganathan, Miguel Reyes-Múgica
Cystinosis is the most common cause of inherited renal Fanconi syndrome in young children, and typically presents with laboratory findings of a proximal tubulopathy and corneal crystals by one year of age. We describe here renal biopsy findings in a 20-month-old patient with an atypical presentation of distal renal tubular acidosis, diabetes insipidus, and the absence of corneal crystals. Although renal biopsy is usually not necessary to establish the diagnosis of cystinosis, when the patient presents with atypical signs and symptoms, a renal biopsy may be extremely valuable...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28257826/structural-aspects-of-vitamin-d-endocrinology
#8
Natacha Rochel, Ferdinand Molnár
1α,25-Dihydroxvitamin D3 (1,25(OH)2D3) is the hormonally active form of vitamin D3. Its synthesis and its metabolites, their transport and elimination as well as action on transcriptional regulation involves the harmonic cooperation of diverse proteins with vitamin D binding capacities such as vitamin D binding protein (DBP), cytochrome P450 enzymes or the nuclear vitamin receptor (VDR). The genomic mechanism of 1,25(OH)2D3 action involves its binding to VDR that functionally acts as a heterodimer with retinoid X receptor...
February 28, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28257043/minerals-and-trace-elements-intakes-and-food-consumption-patterns-of-young-children-living-in-rural-areas-of-tibet-autonomous-region-p-r-china-a-cross-sectional-survey
#9
Michael Dermience, Françoise Mathieu, Xiao Wei Li, Stefanie Vandevijvere, William Claus, Viviane De Maertelaer, Ghislaine Dufourny, Li Bin, Dechen Yangzom, Georges Lognay
BACKGROUND AND OBJECTIVES: Several studies revealed clinical signs of stunting and rickets among rural populations of Tibet Autonomous Region (T.A.R.), and especially amid children. Further, these populations are affected by a bone disease named Kashin-Beck disease (KBD). However, little is known about the dietary status of this population. This survey aimed to assess the usual intakes of young Tibetan children living in rural areas around Lhasa for energy, water, and ten minerals and trace elements (Na, K, Ca, P, Mg, Fe, Zn, Cu, Mn, and Se) involved in bone metabolism...
March 1, 2017: Healthcare (Basel, Switzerland)
https://www.readbyqxmd.com/read/28238808/hypophosphatasia-an-overview-for-2017
#10
Michael P Whyte
Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of ALP (TNSALP). Autosomal recessive or autosomal dominant inheritance from among >300 TNSALP (ALPL) mutations largely explains HPP's remarkably broad-ranging severity. TNSALP is a cell-surface homodimeric phosphohydrolase richly expressed in the skeleton, liver, kidney, and developing teeth...
February 24, 2017: Bone
https://www.readbyqxmd.com/read/28229097/pediatric-hypovitaminosis-d-molecular-perspectives-and-clinical-implications
#11
Rafiu Ariganjoye
Vitamin D, a secosteroid, is essential for the development and maintenance of healthy bone in both the adult and pediatric populations. Low level of 25-hydroxy vitamin D (25-(OH)-D) is highly prevalent in children worldwide and has been linked to various adverse health outcomes including rickets, osteomalacia, osteomalacic myopathy, sarcopenia, and weakness, growth retardation, hypocalcemia, seizure and tetany, autism, cardiovascular diseases, diabetes mellitus, cancers (prostate, colon, breast), infectious diseases (viral, tuberculosis), and autoimmune diseases, such as multiple sclerosis and Hashimoto's thyroiditis...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28222650/is-surgery-always-indicated-in-rachitic-coronal-knee-deformities-our-experience-in-198-knees
#12
Jatin Prakash, Anil Mehtani, Alok Sud, Baccha K Reddy
INTRODUCTION: Defective mineralization of osteoid matrix prior to physeal closure causes rickets. Poor calcification of the cartilage matrix in the zone of provisional calcification causes flattened skull, rachitic rosary, bowed legs, coxa vara and brittle bones. The recent literature has seen an increase in the incidence of the disease in both developing and developed nations. We evaluated behaviour of lower limb deformities due to nutritional rickets in 117 patients. MATERIALS AND METHODS: A prospective study was conducted from January 2009 to December 2011 for clinical and radiological evaluation of knee deformities in nutritional rickets...
January 2017: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28219093/-impact-of-vitamin-d-in-sports-does-vitamin-d-insufficiency-compromise-athletic-performance
#13
Sebastian Butscheidt, Tim Rolvien, Peter Ueblacker, Michael Amling, Florian Barvencik
Introduction Vitamin D is essential for calcium homeostasis and regulates the expression of over 900 genes. It thereby influences musculoskeletal health and function. Additionally, multiple other effects were observed through the detection of vitamin D receptors (VDR) in numerous tissues of the human body. Material and Methods We reviewed the literature regarding evidence of the impact of vitamin D on musculoskeletal health and peak athletic performance. Results and Discussion It is well known that there is a high prevalence of vitamin D deficiency in the average European population...
February 20, 2017: Sportverletzung Sportschaden: Organ der Gesellschaft Für Orthopädisch-Traumatologische Sportmedizin
https://www.readbyqxmd.com/read/28218687/uv-radiation-from-physics-to-impacts
#14
EDITORIAL
Hanns Moshammer, Stana Simic, Daniela Haluza
Ultraviolet (UV) radiation has affected life at least since the first life forms moved out of the seas and crawled onto the land. Therefore, one might assume that evolution has adapted to natural UV radiation. However, evolution is mostly concerned with the propagation of the genetic code, not with a long, happy, and fulfilling life. Because rickets is bad for a woman giving birth, the beneficial effects of UV-radiation outweigh the adverse effects like aged skin and skin tumors of various grades of malignancy that usually only afflict us at older age...
February 17, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28208834/in%C3%A2-pursuit%C3%A2-of%C3%A2-vitamin%C3%A2-d%C3%A2-in%C3%A2-plants
#15
Lucinda J Black, Robyn M Lucas, Jill L Sherriff, Lars Olof Björn, Janet F Bornman
Vitamin D deficiency is a global concern. Much research has concentrated on the endogenous synthesis of vitamin D in human skin following exposure to ultraviolet-B radiation (UV-B, 280-315 nm). In many regions of the world there is insufficient UV-B radiation during winter months for adequate vitamin D production, and even when there is sufficient UV-B radiation, lifestyles and concerns about the risks of sun exposure may lead to insufficient exposure and to vitamin D deficiency. In these situations, dietary intake of vitamin D from foods or supplements is important for maintaining optimal vitamin D status...
February 13, 2017: Nutrients
https://www.readbyqxmd.com/read/28203565/tubular-dysfunction-mimicking-dent-s-disease-in-2-infants-born-with-extremely-low-birth-weight
#16
Midori Awazu, Mie Arai, Shoko Ohashi, Hirotaka Takahashi, Takashi Sekine, Kazushige Ikeda
Two preterm infants, with extremely low birth weight born at gestational weeks 24 and 25, showed generalized proximal tubular dysfunction during their stay in the neonatal intensive care unit, including glucosuria, low molecular weight proteinuria, phosphaturia, uricosuria, enzymuria (elevated urine N-acetyl-β-D-glucosaminidase), panaminoaciduria, and hypercalciuria, associated with renal calcification. Renal tubular acidosis was not present in either patient. DNA mutation analysis for Dent's disease, performed in patient 1, was negative...
January 2017: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/28194480/evaluation-of-bone-mineral-density-and-microarchitectural-parameters-by-dxa-and-hr-pqct-in-37-children-and-adults-with-x-linked-hypophosphatemic-rickets
#17
G P Colares Neto, R M R Pereira, J C Alvarenga, L Takayama, M F A Funari, R M Martin
In X-linked hypophosphatemic (XLH) rickets, dual-energy X-ray absorptiometry (DXA) measurements must be analyzed with caution. High-resolution peripheral quantitative computed tomography (HR-pQCT) analysis suggested that XLH primarily affects the cancellous compartment, with the tibia more affected than the radius. Effective treatment of XLH appears to positively affect bone mineralization, mainly in the bone cortex. INTRODUCTION: The purpose of this study is to evaluate bone mineral density (BMD) and microarchitecture in 37 patients (13 children and 24 adults) with XLH confirmed by PHEX mutations from a tertiary center compared to healthy controls...
February 13, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28186955/cross-sectional-analysis-of-universal-vitamin-d-supplementation-in-former-east-germany-during-the-first-year-of-life
#18
Aris Siafarikas, Alfons Deichl, Gerhard Jahreis, Angela Pieplow, Hartmut Vogel, Eberhard Kauf, Anna-Elisabeth Kapuhs, Elke Badeke, Günter Berger, Hans Kändler, Volker Hesse
BACKGROUND: Universal vitamin D supplementation is controversial. Preventative examinations and public health initiatives in former East Germany that included vitamin D prophylaxis for children were regulated by official recommendations and guidelines. The aim of this study is to analyse the impact of a standardised nationwide guideline for universal supplementation with 400 International Units (IU) vitamin D3/day during the first year of life on clinical and biochemical parameters and the influence of surrounding factors...
February 10, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28179126/vitamin-d-deficiency-in-mothers-neonates-and-children
#19
Deena H Elsori, Majeda S Hammoud
Vitamin D is produced in response to the exposure of skin to sunlight through UV-B synthesis. It can also be obtained from diet and dietary supplements. Vitamin D is essential for strong bones as it helps to absorb calcium from diet. Vitamin D deficiency mainly occurs if strict vegetarian diet is followed as mostly the source of vitamin D is animal based; therefore, exposure to sunlight is restricted or having dark skin color. Low vitamin D levels results in increased possibility of gestational diabetes among pregnant women, low birth weight and pre-eclampsia in infants, and mothers may suffer bone impairment, osteoporosis, hypocalcaemia, and hypertension...
February 5, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28169269/a-paradoxical-presentation-of-rickets-and-secondary-osteomyelitis-of-the-jaw-in-type-ii-autosomal-dominant-osteopetrosis-rare-case-reports
#20
S Jayachandran, M Suresh Kumar
Osteopetrosis is a rare genetic bone disorder arising due to a defect in the differentiation or function of osteoclast which results in a generalized increase in bone mass. Osteomyelitis is one of the most common complications because of decreased bone marrow function and compromised blood supply. Radiologist plays a vital role in diagnosing osteopetrosis. Here, we present two cases of autosomal dominant osteopetrosis Type II (ADO II) with secondary osteomyelitis changes which were reported to our department...
November 2016: Indian Journal of Dental Research: Official Publication of Indian Society for Dental Research
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