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https://www.readbyqxmd.com/read/28448761/sleeping-cupid-by-caravaggio-what-diagnosis
#1
Paolo Pozzilli, Marco Cappa
The Sleeping Cupid, by Italian painter Caravaggio is a masterpiece painted in 1608. Signs of an endocrine disease are hidden among the shadows of the painting. We decided to conduct a survey among endocrinologists practicing in Italy and asked them if they could identify a specific disease condition in Caravaggio's Sleeping Cupid. A total of 86 members from two Italian endocrine societies completed the survey, 67 from the Society of Endocrinology and 19 from the Society of Paediatric Endocrinology and Diabetology...
April 27, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28440087/cervical-dural-calcification-and-cervical-myelopathy-in-x-linked-hypophosphataemic-rickets-a-case-report-and-review-of-the-literature
#2
Ali A Najefi, Daniel B Beder, Shiraz A Sabah, Kia Rezajooi
X-linked hypophosphataemic rickets (XLHR) is a genetic disorder resulting from a genetic mutation in the PHEX gene. This may cause ossification of soft tissue structures risking spinal cord compression. We present the first known case of cervical dural calcification secondary to XLHR to cause myelopathic symptoms due to cord compression.
April 25, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28431765/immune-modulation-by-vitamin-d-special-emphasis-on-its-role-in-prevention-and-treatment-of-cancer
#3
REVIEW
Franco Pandolfi, Laura Franza, Claudia Mandolini, Pio Conti
PURPOSE: Vitamin D has been known to be involved in mineral and bone homeostasis for many years. In the past its main use was in treating osteoporosis and rickets. In recent years it was found that vitamin D is an immune-modulating agent and may also have a role in several diseases, including autoimmune diseases. The immune-modulating effects appear to be mediated by vitamin D interaction with the vitamin D receptor (VDR) that has transcriptional effects and is expressed on various cell types, especially those of the immune system...
April 18, 2017: Clinical Therapeutics
https://www.readbyqxmd.com/read/28431446/-vitamin-d-in-clinic-and-practice
#4
Armin Zittermann, Stefan Pilz
Vitamin D is unique among the vitamins, since its major source is skin synthesis by solar UVB exposure, whereas dietary intake plays only a minor role. In the general population, cutaneous vitamin D synthesis is clearly below the recommended amount. Dietary vitamin D does not fill this gap. Severe vitamin D deficiency results in rickets in infants and osteomalacia in adults. In the absence of endogenous vitamin D synthesis (e. g. during winter), oral supplements should ensure adequate daily vitamin D intake, where appropriate...
April 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28430915/genetic-knockout-and-rescue-studies-in-mice-unravel-abnormal-phosphorus-threshold-in-hypophosphatemic-rickets
#5
Cheryl P Sanchez, Subburaman Mohan
No abstract text is available yet for this article.
March 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/28412519/vitamin-d-signaling-in-intestinal-innate-immunity-and-homeostasis
#6
REVIEW
Vassil Dimitrov, John H White
The lumen of the gut hosts a plethora of microorganisms that participate in food assimilation, inactivation of harmful particles and in vitamin synthesis. On the other hand, enteric flora, a number of food antigens, and toxins are capable of triggering immune responses causing inflammation, which, when unresolved, may lead to chronic conditions such as inflammatory bowel disease (IBD). It is important, therefore, to contain the gut bacteria within the lumen, control microbial load and composition, as well as ensure adequate innate and adaptive immune responses to pathogenic threats...
April 12, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28401345/vitamin-d-in-european-children-statement-from-the-european-academy-of-paediatrics-eap
#7
Zachi Grossman, Adamos Hadjipanayis, Tom Stiris, Stefano Del Torso, Jean-Christophe Mercier, Arunas Valiulis, Raanan Shamir
Vitamin D is synthesized in human skin upon sun exposure and is also a nutrient. It regulates calcium and phosphate metabolism and is essential for the maintenance of bone health. Vitamin D supplementation during infancy, in order to prevent rickets, is universally accepted. Many human cell types carry vitamin D receptor, this being a drive for conducting studies on the possible association between vitamin D status and other diseases. Studies have affirmed that a considerable number of healthy European children may be vitamin D deficient, especially in high-risk groups (darker pigmented skin, living in areas with reduced sun exposure and other disorders)...
April 12, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28396719/case-of-hepatocellular-carcinoma-in-a-patient-with-hereditary-tyrosinemia-in-the-post-newborn-screening-era
#8
Essam M Imseis, John S Bynon, Chad Thornhill
Hereditary tyrosinemia type 1 (HT-1) is a metabolic disorder caused by a defect in tyrosine degradation. Without treatment, symptoms of hepatomegaly, renal tubular dysfunction, growth failure, neurologic crises resembling porphyrias, rickets and possible hepatocellular carcinoma can develop. The use of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione and early diagnosis through newborn screening initiatives have resulted in a sharp decline in morbidity and mortality associated with this disease. We present a case report of a 7-year-old patient with HT-1 who was born prior to the addition of tyrosinemia to the newborn screening in her birth area...
March 28, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28383812/mutational-analysis-of-phex-fgf23-and-clcn5-in-patients-with-hypophosphataemic-rickets
#9
Ayla Guven, Roua A Al-Rijjal, Huda BinEssa, Durmuş Dogan, Yılmaz Kor, Minjing Zou, Namik Kaya, Anwar F Al-Enazi, Suna Hancili, Ömer Tarım, Essa Y Baitei, Walaa E Kattan, Brian F Meyer, Yufei Shi
CONTEXT: Hypophosphataemic rickets (HR) is a group of rare hereditary renal phosphate wasting disorders caused by mutations in PHEX, FGF23, DMP1, ENPP1, CLCN5, or SLC34A3. OBJECTIVE: To investigate underlying genetic defects in patients with hypophosphataemic rickets. METHODS: We analyzed genomic DNA from 9 unrelated families for mutations in the entire coding region of PHEX, FGF23, DMP1, ENPP1, CLCN5, or SLC34A3 by PCR-sequencing and copy number analysis...
April 6, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28382841/hepatocellular-carcinoma-in-fanconi-bickel-syndrome
#10
Jennifer Pogoriler, Allison F O'Neill, Stephan D Voss, Robert C Shamberger, Antonio R Perez-Atayde
Fanconi-Bickel syndrome is a rare autosomal recessive disorder due to mutations in the facilitative glucose transporter 2 ( GLUT2 or SLC2A2) gene resulting in excessive glycogen storage predominantly in the liver and kidney. Previous case reports of this condition have described liver biopsies with glycogen storage and variable steatosis and/or fibrosis. Unlike in other types of glycogen storage disease, hepatocellular adenomas and carcinomas have not been described to date in this syndrome. A 6-year-old boy with consanguineous parents had short stature, poorly controlled rickets, hepatosplenomegaly, and renal tubular dysfunction clinically consistent with Fanconi-Bickel Syndrome...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28382624/cinacalcet-as-an-alternative-to-phosphate-therapy-in-x-linked-hypophosphataemic-rickets
#11
Uri S Alon, Dale Jarka, Penny J Monachino, Judith Sebestyen VanSickle, Tarak Srivastava
X-linked hypophosphataemic rickets (XLH), caused by mutations in the PHEX gene, has traditionally been treated with a combination of high doses of oral phosphate and active vitamin D metabolites with the goal of normalizing serum phosphate concentration to a degree sufficient to heal the rickets while avoiding iatrogenic complications. Although XLH is caused by elevated serum levels of fibroblast growth factor 23 (FGF23), parathyroid hormone (PTH) still plays a role through its independent effect on the tubular threshold for phosphate per glomerular filtration rate (TP/GFR), which influences serum phosphate concentration...
April 6, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28377728/tissue-nonspecific-alkaline-phosphatase-tnap-regulates-cranial-base-growth-and-synchondrosis-maturation
#12
Hwa K Nam, Monika Sharma, Jin Liu, Nan E Hatch
Hypophosphatasia is a rare heritable disorder caused by inactivating mutations in the gene (Alpl) that encodes tissue nonspecific alkaline phosphatase (TNAP). Hypophosphatasia with onset in infants and children can manifest as rickets. How TNAP deficiency leads to bone hypomineralization is well explained by TNAP's primary function of pyrophosphate hydrolysis when expressed in differentiated bone forming cells. How TNAP deficiency leads to abnormalities within endochondral growth plates is not yet known. Previous studies in hypophosphatemic mice showed that phosphate promotes chondrocyte maturation and apoptosis via MAPK signaling...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28376474/magnetic-resonance-imaging-features-as-surrogate-markers-of-x-linked-hypophosphatemic-rickets-activity
#13
Marta Lempicki, Anya Rothenbuhler, Valérie Merzoug, Stéphanie Franchi-Abella, Catherine Chaussain, Catherine Adamsbaum, Agnès Linglart
OBJECTIVE: X-linked hypophosphatemic rickets (XLH) is the most common form of inheritable rickets. Rickets treatment is monitored by assessing alkaline phosphatase (ALP) levels, clinical features, and radiographs. Our objectives were to describe the magnetic resonance imaging (MRI) features of XLH and to assess correlations with disease activity. STUDY DESIGN: Twenty-seven XLH patients (median age 9.2 years) were included in this prospective single-center observational study...
April 3, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28374482/safety-and-efficacy-of-treatment-with-asfotase-alfa-in-patients-with-hypophosphatasia-results-from-a-japanese-clinical-trial
#14
Taichi Kitaoka, Toshihiro Tajima, Keisuke Nagasaki, Toru Kikuchi, Katsusuke Yamamoto, Toshimi Michigami, Satoshi Okada, Ikuma Fujiwara, Masayuki Kokaji, Hiroshi Mochizuki, Tsutomu Ogata, Koji Tatebayashi, Atsushi Watanabe, Shuichi Yatsuga, Takuo Kubota, Keiichi Ozono
OBJECTIVE: Hypophosphatasia (HPP) is a rare skeletal disease characterized by hypomineralization and low alkaline phosphatase activity. Asfotase alfa (AA) has been recently developed to treat HPP complications. This study evaluated its safety and efficacy in Japan. DESIGN: Open-label, multicenter, prospective trial. Patients were enrolled in 11 hospitals from June 2014 to July 2015. PATIENTS: Thirteen patients (9 females, 4 males) ages 0 days to 34 years at baseline were enrolled and treated with AA (2 mg/kg three times weekly subcutaneously in all but one patient)...
April 4, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28373790/rachitic-hypocalcemic-cardiomyopathy-in-an-infant
#15
Abdelwahab T H Elidrissy, Khalid M Alharbi, Mohammed Mufid, Ibrahim AlMezeni
Cardiomyopathy in infants is characterized by heart failure in apparently normal children without previous organic cardiac lesions. Cardiomyopathy has been found to comprise four types. Rickets is common in Saudi Arabia, that is why I reviewed this subject. Recently this case with classical features of rickets being admitted in a serious state we thought of publishing it. The infant responded well to treatment and full recovery was achieved. Follow up biochemistry, radiology cardiac function completely recovered and bony abnormalities showed evidence of healing...
April 2017: Journal of the Saudi Heart Association
https://www.readbyqxmd.com/read/28367941/changes-in-bone-metabolic-parameters-following-oral-calcium-supplementation-in-an-adult-patient-with-vitamin-d-dependent-rickets-type-2a
#16
Yuka Kinoshita, Nobuaki Ito, Noriko Makita, Masaomi Nangaku, Seiji Fukumoto
Vitamin D-dependent rickets type 2A (VDDR2A) is a rare inherited disorder with decreased tissue responsiveness to 1,25-dihydroxyvitamin D [1,25(OH)2D], caused by loss of function mutations in the vitamin D receptor (VDR) gene. Approximately 50 types of mutations have been identified so far that change amino acids in either the N-terminal DNA binding domain (DBD) or the C-terminal ligand binding domain (LBD) of the VDR protein. The degree of responsiveness to 1,25(OH)2D varies between patients with VDDR2A, which may depend on their residual VDR function...
March 31, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28356142/towards-evidence-based-vitamin-d-supplementation-in-infants-vitamin-d-intervention-in-infants-vidi-study-design-and-methods-of-a-randomised-controlled-double-blinded-intervention-study
#17
Otto Helve, Heli Viljakainen, Elisa Holmlund-Suila, Jenni Rosendahl, Helena Hauta-Alus, Maria Enlund-Cerullo, Saara Valkama, Kati Heinonen, Katri Räikkönen, Timo Hytinantti, Outi Mäkitie, Sture Andersson
BACKGROUND: Vitamin D is important for bone mass accrual during growth. Additionally, it is considered a requirement for a multitude of processes associated with, for example, the development of immunity. Many countries apply vitamin D supplementation strategies in infants, but the guidelines are not based on scientific evidence and aim at prevention of rickets. It remains unclear whether the recommended doses are sufficient for the wide array of other effects of vitamin D. The VIDI trial performed in Finland is the first large randomised controlled study for evaluation of the effects of different vitamin D supplemental doses in infancy on: 1...
March 29, 2017: BMC Pediatrics
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
#18
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
#19
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...
January 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
#20
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...
April 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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