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https://www.readbyqxmd.com/read/29677923/profiling-databases-to-facilitate-comparison-of-child-health-systems-across-europe-using-standardised-quality-markers
#1
Harshana Liyanage, Stacy Shinneman, Uy Hoang, Filipa Ferreira, Denise Alexander, Michael Rigby, Mitch Blair, Simon de Lusignan
Models of child primary health care vary across Europe. There are three categories, primary care paediatricians, general practitioner based, or mixed. This paper describes the metadata schema used in the profiling process of candidate data sources for appraisal for the Models of Child Health Appraised (MOCHA) project using the MOCHA International Research Opportunity Instrument (MIROI). The ten clinical indicators included: asthma, antibiotic stewardship, immunisation, rickets, diarrhea, epilepsy, depression, ADHD, enuresis and care of women during pregnancy...
2018: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/29671012/-cystinosis-diagnosis-cystine-depleting-therapy-and-transition
#2
REVIEW
Jessica Kaufeld, Lutz T Weber, Christine Kurschat, Sima Canaan-Kuehl, Eva Brand, Jun Oh, Lars Pape
This article presents a case of cystinosis in a young man. Diagnosis of the disease and the problem of transition to adult care are described. Cystinosis is a rare lysosomal storage disease with first manifestation in early childhood presenting as renal Fanconi syndrome. Without treatment, the disease leads to severe health impairment. Due to the rarity of the disease, a correct diagnosis is often delayed. Without treatment, cystinosis often leads to end-stage renal failure, blindness, hypothyroidism, diabetes mellitus, and rickets...
April 18, 2018: Der Internist
https://www.readbyqxmd.com/read/29668480/the-6th-rare-disease-south-eastern-europe-see-meeting-skopje-macedonia-november-11th-2017
#3
Zoran Gucev, Velibor Tasic, Momir Polenakovic
The sixth SEE meeting on rare diseases (RDs) was held in MASA the November 10th, 2017. A block of lectures on rare renal diseases started the meeting: nephrotic syndrome, Alport syndrome, atypical HUS, hypophosphatemic rickets, CAKUT were presented in all complexities. Their molecular and genetic mechanisms were discussed. The discovery of a dozen of newly genes in CAKUT, congenital overgrowth, spodilocostal dysplasia, precocious puberty has been done with collaboration of Macedonian and foreign researchers...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29661756/prevention-of-rickets-and-osteomalacia-in-the-uk-political-action-overdue
#4
REVIEW
Suma Uday, Wolfgang Högler
The consequences of vitamin D and dietary calcium deficiency have become a huge public health concern in the UK. The burden of disease from these deficiencies includes rickets, and hypocalcaemic seizures, dilated cardiomyopathy and mostly occult myopathy and osteomalacia. The increasing burden of the disease is intrinsically linked to ethnicity and the population demographic changes in the UK. Three facts have led to the resurfacing of the English disease: (1) the UK has no ultraviolet sunlight for at least 6 months of the year, (2) dark skin produces far less vitamin D than white skin per unit ultraviolet light exposure, and (3) non-European Union immigration over the last century...
April 16, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29655998/four-possible-cases-of-osteomalacia-the-value-of-a-multidisciplinary-diagnostic-approach
#5
A E van der Merwe, B Veselka, H A van Veen, R R van Rijn, K L Colman, H H de Boer
Rickets and residual rickets are often encountered in Dutch archeological skeletal samples. However, no archeological Dutch paleopathological case of adult osteomalacia has been described in literature to date. This paper describes the first four archeological Dutch paleopathological cases of osteomalacia and assesses the value of the various modalities (macroscopic assessment, radiology and histology) that may be used for diagnosis. The skeletal remains investigated originate from the Meerenberg psychiatric hospital cemetery in Bloemendaal, the Netherlands, and date from 1891 - 1936...
April 11, 2018: International Journal of Paleopathology
https://www.readbyqxmd.com/read/29652819/the-when-what-how-of-measuring-vitamin-d-metabolism-in-clinical-medicine
#6
REVIEW
Niek F Dirks, Mariëtte T Ackermans, Paul Lips, Renate T de Jongh, Marc G Vervloet, Robert de Jonge, Annemieke C Heijboer
We now have the ability to measure a number of different vitamin D metabolites with very accurate methods. The most abundant vitamin D metabolite, 25-hydroxyvitamin D, is currently the best marker for overall vitamin D status and is therefore most commonly measured in clinical medicine. The added value of measuring metabolites beyond 25-hydroxyvitamin D, like 1,25-, and 24,25-dihydroxyvitamin D is not broadly appreciated. Yet, in some more complicated cases, these metabolites may provide just the information needed for a legitimate diagnosis...
April 13, 2018: Nutrients
https://www.readbyqxmd.com/read/29652179/associations-between-maternal-nutrition-knowledge-attitude-and-practice-and-25-hydroxyvitamin-d-levels-and-rickets-in-children-in-xinjiang-province-people-s-republic-of-china
#7
Yu Liang, Hai-Yan Ren, Peng-Xiang Zuo
We explored the association between maternal nutrition knowledge, attitude, and practice (KAP) and 25-hydroxyvitamin D (25(OH)D) values in children with rickets in Xinjiang, People's Republic of China. We recruited 514 mothers with children (<2 years) from pediatric outpatient departments. We determined general status of families, maternal nutrition KAP, and 25(OH)D values in 212 children with rickets, with doctors using "Prevention and Treatment Program for Infant and Young Children Rickets" and "Application Guideline for Vitamin D and Bone Health in Adult Chinese (2014 Standard Edition)" to identify...
April 1, 2018: Asia-Pacific Journal of Public Health
https://www.readbyqxmd.com/read/29617471/hypophosphatemic-rickets-case-report
#8
Marta Liliane de Almeida Maia, Ana Lucia Santos Abreu, Paulo Cesar Koch Nogueira, Maria Luiza Dautro Moreira do Val, João Tomas de Abreu Carvalhaes, Maria Cristina de Andrade
OBJECTIVE: Early diagnosis and immediate treatment of hypophosphatemic rickets is of utmost importance as it may prevent subsequent sequelae. This report aims at warning pediatricians to consider the presence of the disease. CASE DESCRIPTION: Description of the metabolic profile, creatinine clearance, nutritional status, weight and body structure of a patient who presented the clinical-laboratorial characteristics of hypophosphatemic rickets and was followed in an outpatient clinic for tubulopathies over the period of 12 months...
March 29, 2018: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/29614570/-clinical-features-and-genetic-variants-of-dent-disease-in-10-children
#9
S L Zhao, F Zhao, Y G Sha, Q X Chen, X Q Cheng, S M Huang
Objective: To summarize the clinical features and genetic analysis results of 10 children with Dent disease. Methods: The clinical data and gene test results of 10 boys aged from 8 months to 12 years with Dent disease diagnosed in Children's Hospital of Nanjing Medical University from January 2014 to July 2017 were analyzed retrospectively. Results: All patients had insidious onset, 5 cases were found to have proteinuria on routine urine examination after hospitalization duo to other diseases, 4 cases were admitted to hospital because increased foams in the urine, and 1 case was found to have proteinuria on health checkup...
April 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29610183/craniosynostosis-as-the-presenting-feature-of-x-linked-hypophosphatemic-rickets
#10
Janaki D Vakharia, Kristal Matlock, Helena O Taylor, Philippe F Backeljauw, Lisa Swartz Topor
Craniosynostosis is the premature closure of cranial sutures. Primary, or congenital, craniosynostosis is often sporadic but may be associated with genetic or chromosomal abnormalities. Secondary craniosynostosis presents after gestation, and can occur in metabolic bone diseases, including rickets. We describe the first reported cases of primary craniosynostosis in 2 unrelated, term infants with X-linked hypophosphatemic rickets (XLH). The diagnosis of XLH in both patients was confirmed by genetic testing. At the time craniosynostosis was detected, the patient in the first case did not have any other clinical features of XLH...
April 2018: Pediatrics
https://www.readbyqxmd.com/read/29599748/polyostotic-fibrous-dysplasia-with-and-without-mccune-albright-syndrome-clinical-features-in-a-nordic-pediatric-cohort
#11
Pauliina Utriainen, Helena Valta, Sigridur Björnsdottir, Outi Mäkitie, Eva Horemuzova
Objective: Fibrous dysplasia (FD) presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic GNAS mutation. McCune-Albright syndrome (MAS) refers to FD combined with skin (café-au-lait) and endocrine manifestations. This study describes the clinical childhood manifestations of polyostotic FD and MAS in a Nordic cohort. Patients and design: We retrospectively reviewed a cohort of pediatric patients ( n  = 16) with polyostotic FD with or without MAS diagnosed and followed in two Nordic Pediatric tertiary clinics between 1996 and 2017...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29589644/congenital-atrichia-with-papular-lesions-a-rare-cause-of-irreversible-childhood-alopecia
#12
Tasleem Arif, Mohammad Adil, Syed Suhail Amin
Congenital atrichia with papular lesions (APL) is a disease characterized by the complete absence of hair from the whole body occurring within a few months of birth and the presence of papules distributed over the body. A 9-year-old boy presented with sparse hair over his body and with a history of losing his hair soon after birth. Multiple skin-colored papules were observed over the scalp. A biopsy from a papule showed keratinous cysts in the dermis and the absence of hair follicles. A diagnosis of congenital APL was made after vitamin D-dependent rickets was excluded...
March 2018: Acta Dermatovenerologica Alpina, Panonica, et Adriatica
https://www.readbyqxmd.com/read/29573245/primary-autosomal-recessive-distal-renal-tubular-acidosis-caused-by-a-common-homozygous-slc4a1-mutation-in-two-lao-families
#13
Eujin Park, Vilaphone Phaymany, Eun Sang Yi, Sommanikhone Phangmanixay, Hae Il Cheong, Yong Choi
Primary distal renal tubular acidosis (dRTA) caused by mutations of the SLC4A1 gene, which encodes for erythroid and kidney isoforms of anion exchanger, shows marked difference in inheritance patterns and clinical features in different parts of the world. While the disease shows autosomal dominant inheritance without any red cell morphological abnormalities in the temperate countries, it is almost invariably recessive, and often accompanies red cell morphological abnormalities or hemolytic anemia in the tropics, especially in Southeast Asia...
March 26, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29562608/health-risks-of-hypovitaminosis-d-a-review-of-new-molecular-insights
#14
REVIEW
Daniela Caccamo, Sergio Ricca, Monica Currò, Riccardo Ientile
Hypovitaminosis D has become a pandemic, being observed in all ethnicities and age groups worldwide. Environmental factors, such as increased air pollution and reduced ultraviolet B (UVB) irradiation, as well as lifestyle factors, i.e., decreased outdoor activities and/or poor intake of vitamin D-rich food, are likely involved in the etiology of a dramatic reduction of vitamin D circulating levels. The insufficiency/deficiency of vitamin D has long been known for its association with osteoporosis and rickets...
March 17, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29558205/fibroblast-growth-factor-23-does-not-directly-influence-skeletal-muscle-cell-proliferation-and-differentiation-or-ex-vivo-muscle-contractility
#15
Keith G Avin, Julian A Vallejo, Neal X Chen, Kun Wang, Chad D Touchberry, Marco Brotto, Sarah L Dallas, Sharon M Moe, Michael J Wacker
Skeletal muscle dysfunction accompanies the clinical disorders of chronic kidney disease (CKD) and hereditary hypophosphatemic rickets. In both disorders fibroblast growth factor 23 (FGF23), a bone-derived hormone regulating phosphate and vitamin D metabolism, becomes chronically elevated. FGF23 has been shown to play a direct role in cardiac muscle dysfunction; however, it is unknown whether FGF23 signaling can also directly induce skeletal muscle dysfunction. We found expression of potential FGF23 receptors ( Fgfr1-4) and α-Klotho in muscles of two animal models (CD-1 and Cy/+ rat, a naturally occurring rat model of Chronic Kidney Disease-Mineral Bone Disorder) as well as C2 C12 myoblasts and myotubes...
March 20, 2018: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29552133/ct-and-mr-imaging-features-in-phosphaturic-mesenchymal-tumor-mixed-connective-tissue-a-case-report
#16
Zhenshan Shi, Yiqiong Deng, Xiumei Li, Yueming Li, Dairong Cao, Vikash Sahadeo Coossa
Phosphaturic mesenchymal tumor-mixed connective tissue (PMT-MCT) is rare and usually benign and slow-growing. The majority of these tumors is associated with sporadic tumor-induced osteomalacia (TIO) or rickets, affect middle-aged individuals and are located in the extremities. Previous imaging studies often focused on seeking the causative tumors of TIO, not on the radiological features of these tumors, especially magnetic resonance imaging (MRI) features. PMT-MCT remains a largely misdiagnosed, ignored or unknown entity by most radiologists and clinicians...
April 2018: Oncology Letters
https://www.readbyqxmd.com/read/29551613/evaluation-of-vitamin-d-status-bone-mineral-density-and-dental-health-in-children-with-cholestasis
#17
Nashwa M Samra, Shaimaa Emad El Abrak, Hanaa H El Dash, Mona El Said El Raziky, Manal A El Sheikh
BACKGROUND: Hepatic osteodystrophy caused by vitamin D and calcium malabsorption is thought to develop in children with cholestatic liver disease leading to secondary hyperparathyroidism and rickets or osteomalacia. The aim of this study was to evaluate the dental and bone mineral densities and the serum level of vitamin D in cholestatic infants and children and to correlate this process with clinical and laboratory parameters. METHODS: This is a cross-sectional study that include 50 patients presenting with cholestasis...
March 15, 2018: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/29549958/vitamin-d-and-calcium-in-the-human-breast-milk
#18
REVIEW
Yoon Ju Bae, Juergen Kratzsch
Vitamin D and calcium in the human milk is essential for the growth and the prevention of rickets in infants. In this review, we will discuss the physiology and the functions of vitamin D and calcium and the mechanisms of vitamin D and calcium transfer into the human breast milk. This review describes the recommended intake of vitamin D and calcium for infants and lactating mothers and the factors influencing the content of vitamin D and calcium in human milk. Furthermore, the measurement of vitamin D compounds and calcium in human breast milk is described in this review...
January 2018: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29544996/the-pathology-of-vitamin-d-deficiency-in-domesticated-animals-an-evolutionary-and-comparative-overview
#19
REVIEW
Elizabeth W Uhl
Although vitamin D is critical to calcium/phosphorus homeostasis, bone formation and remodeling, there is evolution-based variation between species in vitamin D metabolism and susceptibility to rickets and osteomalacia. Most herbivores produce vitamin D3 in response to sunlight, but dogs and cats have generally lost the ability as carnivore diets are rich in vitamin D. Nutritional deficiencies and/or poor exposure to sunlight can induce rickets in birds, swine, cattle and sheep, but horses are less susceptible as they have evolved a calcium homeostasis that is quite different than other animals...
March 13, 2018: International Journal of Paleopathology
https://www.readbyqxmd.com/read/29526992/incidence-rate-and-characteristics-of-symptomatic-vitamin-d-deficiency-in-children-a-nationwide-survey-in-japan
#20
Takuo Kubota, Hirofumi Nakayama, Taichi Kitaoka, Yosikazu Nakamura, Seiji Fukumoto, Ikuma Fujiwara, Yukihiro Hasegawa, Kenji Ihara, Sachiko Kitanaka, Satomi Koyama, Satoshi Kusuda, Haruo Mizuno, Keisuke Nagasaki, Koji Oba, Yuko Sakamoto, Noriyuki Takubo, Toshiaki Shimizu, Yusuke Tanahashi, Kosei Hasegawa, Hirokazu Tsukahara, Tohru Yorifuji, Toshimi Michigami, Keiichi Ozono
There is concern that vitamin D deficiency is prevalent among children in Japan as well as worldwide. We conducted a nationwide epidemiologic survey of symptomatic vitamin D deficiency to observe its incidence rate among Japanese children. A questionnaire inquiring the number of new patients with vitamin D deficiency rickets and/or hypocalcemia for 3 years was sent to 855 randomly selected hospitals with a pediatrics department in Japan. In this survey, we found that 250 children were diagnosed with symptomatic vitamin D deficiency...
March 10, 2018: Endocrine Journal
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