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https://www.readbyqxmd.com/read/28644353/extraintestinal-manifestations-of-celiac-disease-effectiveness-of-the-gluten-free-diet
#1
Hilary Jericho, Naire Sansotta, Stefano Guandalini
OBJECTIVE: The aim of the study was to evaluate the effectiveness of the gluten-free diet (GFD) on extraintestinal symptoms in pediatric and adult celiac populations at the University of Chicago. METHODS: We conducted a retrospective chart review of the University of Chicago Celiac Center clinic charts from January 2002 to October 2014. Demographics, serologic testing, intestinal biopsies, and extraintestinal symptoms at presentation, 12, 24, and >24 months were recorded...
July 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28643617/preselection-statistics-and-random-forest-classification-identify-population-informative-single-nucleotide-polymorphisms-in-cosmopolitan-and-autochthonous-cattle-breeds
#2
F Bertolini, G Galimberti, G Schiavo, S Mastrangelo, R Di Gerlando, M G Strillacci, A Bagnato, B Portolano, L Fontanesi
Commercial single nucleotide polymorphism (SNP) arrays have been recently developed for several species and can be used to identify informative markers to differentiate breeds or populations for several downstream applications. To identify the most discriminating genetic markers among thousands of genotyped SNPs, a few statistical approaches have been proposed. In this work, we compared several methods of SNPs preselection (Delta, F st and principal component analyses (PCA)) in addition to Random Forest classifications to analyse SNP data from six dairy cattle breeds, including cosmopolitan (Holstein, Brown and Simmental) and autochthonous Italian breeds raised in two different regions and subjected to limited or no breeding programmes (Cinisara, Modicana, raised only in Sicily and Reggiana, raised only in Emilia Romagna)...
June 23, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/28642734/the-short-stature-homeobox-containing-gene-shox-shox-is-required-for-the-regulation-of-cell-proliferation-and-bone-differentiation-in-zebrafish-embryo-and-human-mesenchymal-stem-cells
#3
Tomoaki Yokokura, Hiroyasu Kamei, Takashi Shibano, Daisuke Yamanaka, Rie Sawada-Yamaguchi, Fumihiko Hakuno, Shin-Ichiro Takahashi, Toshiaki Shimizu
The short-stature homeobox-containing gene (SHOX) was originally discovered as one of genes responsible for idiopathic short-stature syndromes in humans. Previous studies in animal models have shown the evolutionarily conserved link between this gene and skeletal formation in early embryogenesis. Here, we characterized developmental roles of shox/SHOX in zebrafish embryos and human mesenchymal stem cells (hMSCs) using loss-of-function approaches. Morpholino oligo-mediated knockdown of zebrafish shox markedly hindered cell proliferation in the anterior region of the pharyngula embryos, which was accompanied by reduction in the dlx2 expression at mesenchymal core sites for future pharyngeal bones...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28641376/height-weight-and-aerobic-fitnessin-relation-to-risk-of-atrial-fibrillation
#4
Casey Crump, Jan Sundquist, Marilyn A Winkleby, Kristina Sundquist
Tall stature or obesity has been associated with higher risk of atrial fibrillation (AF), but reported effects of aerobic fitness have been conflicting. A national cohort study was conducted to examine interactions between height or weight and aerobic fitness among 1,547,478 Swedish military conscripts during 1969-1997 (97-98% of all 18-year-old males) in relation to AF identified from nationwide inpatient and outpatient diagnoses through 2012 (maximum age 62). Increased height, weight, or aerobic fitness (but not muscular strength) at age 18 was associated with higher AF risk in adulthood...
June 21, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28639113/ergonomic-strategies-to-improve-radiographers-posture-during-mammography-activities
#5
Nicolai Cernean, Florentino Serranheira, Pedro Gonçalves, Cláudia Sá Dos Reis
OBJECTIVES: To identify alternatives for radiographers' postures while performing mammography that can contribute to reduce the risk of work-related musculoskeletal disorders (WRMSDs). METHODS: Radiographers' postures to positioning craniocaudal (CC) and mediolateral oblique (MLO) views were simulated without any intervention for three scenarios: radiographer/patient with similar statures, radiographer smaller than patient and radiographer taller than patient. Actions were taken to modify the postures: seated radiographer; patient on a step; seated patient; radiographer on a step...
June 21, 2017: Insights Into Imaging
https://www.readbyqxmd.com/read/28638668/severe-short-stature-in-an-adolescent-male-with-prader-willi-syndrome-and-congenital-adrenal-hyperplasia-a-therapeutic-conundrum
#6
Meredith Wasserman, Erin M Mulvihill, Angela Ganan-Soto, Serife Uysal, Jose Bernardo Quintos
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency results in excess androgen production which can lead to early epiphyseal fusion and short stature. Prader-Willi syndrome (PWS) is a genetic disorder resulting from a defect on chromosome 15 due to paternal deletion, maternal uniparental disomy, or imprinting defect. Ninety percent of patients with PWS have short stature. In this article we report a patient with simple-virilizing CAH and PWS who was overtreated with glucocorticoids for CAH and not supplemented with growth hormone for PWS, resulting in a significantly short adult height...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28636109/xq26-1-26-3-duplication-including-mospd1-and-gpc3-identified-in-boy-with-short-stature-and-double-outlet-right-ventricle
#7
Yukiko Hirota, Takaomi Minami, Tomoyuki Sato, Akiko Yokomizo, Auimi Matsumoto, Masahide Goto, Eriko Jinbo, Takanori Yamamgata
Xq25q26 duplication syndrome has been reported in individuals with clinical features such as short stature, intellectual disability, syndromic facial appearance, small hands and feet, and genital abnormalities. The symptoms are related to critical chromosome regions including Xq26.1-26.3. In this particular syndrome, no patient with congenital heart disease was previously reported. Here, we report a 6-year-old boy with typical symptoms of Xq25q26 duplication syndrome and double outlet right ventricle (DORV) with pulmonary atresia (PA)...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28634534/etiological-factors-of-short-stature-in-children-and-adolescents-experience-at-a-tertiary-care-hospital-in-egypt
#8
Almontaser Hussein, Hekma Farghaly, Eman Askar, Kotb Metwalley, Khaled Saad, Asmaa Zahran, Hisham A Othman
BACKGROUND: Accurate anthropometric measurements and critical analysis of growth data allow the clinician to promptly recognize children with short stature. The aim of this study was to determine the frequency of etiological factors causing short stature among children referred to the pediatric endocrinology clinic of Assiut University Children's Hospital, the main tertiary care center in Upper Egypt. METHODS: We conducted this descriptive observational study from May 2012 to December 2015, to analyze 637 children (boys 354, girls 283) with short stature...
May 2017: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28632845/iris-malformation-and-anterior-segment-dysgenesis-in-mice-and-humans-with-a-mutation-in-pi-3-kinase
#9
Marie H Solheim, Allen C Clermont, Jonathon N Winnay, Erlend Hallstensen, Anders Molven, Pål R Njølstad, Eyvind Rødahl, C Ronald Kahn
Purpose: To determine the ocular consequences of a dominant-negative mutation in the p85α subunit of phosphatidylinositol 3-kinase (PIK3R1) using a knock-in mouse model of SHORT syndrome, a syndrome associated with short stature, lipodystrophy, diabetes, and Rieger anomaly in humans. Methods: We investigated knock-in mice heterozygous for the SHORT syndrome mutation changing arginine 649 to tryptophan in p85α (PIK3R1) using physical examination, optical coherence tomography (OCT), tonometry, and histopathologic sections from paraffin-embedded eyes, and compared the findings to similar investigations in two human subjects with SHORT syndrome heterozygous for the same mutation...
June 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28631895/growth-hormone-excess-in-children-with-neurofibromatosis-type-1-and-optic-glioma
#10
Paola Cambiaso, Stefania Galassi, Melania Palmiero, Angela Mastronuzzi, Francesca Del Bufalo, Rossella Capolino, Antonella Cacchione, Paola S Buonuomo, Michaela V Gonfiantini, Andrea Bartuli, Marco Cappa, Marina Macchiaiolo
In children with neurofibromatosis type 1 (NF1) and optic pathways glioma (OPG), growth hormone (GH) excess has been rarely reported and mainly associated to central precocious puberty. The aim of our study is to evaluate the prevalence of GH excess, the association with central precocious puberty, the relation with tumor site and the evolution over time in a large cohort of children with NF1 and OPG. Sixty-four NF1 children with OPG were evaluated. Patients with stature and/or height velocity >2 SD for age were studied for GH secretion...
June 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28630896/the-gh-receptor-exon-3-deletion-is-a-marker-of-male-specific-exceptional-longevity-associated-with-increased-gh-sensitivity-and-taller-stature
#11
Danny Ben-Avraham, Diddahally R Govindaraju, Temuri Budagov, Delphine Fradin, Peter Durda, Bing Liu, Sandy Ott, Danielle Gutman, Lital Sharvit, Robert Kaplan, Pierre Bougnères, Alex Reiner, Alan R Shuldiner, Pinchas Cohen, Nir Barzilai, Gil Atzmon
Although both growth hormone (GH) and insulin-like growth factor 1 (IGF-1) signaling were shown to regulate life span in lower organisms, the role of GH signaling in human longevity remains unclear. Because a GH receptor exon 3 deletion (d3-GHR) appears to modulate GH sensitivity in humans, we hypothesized that this polymorphism could play a role in human longevity. We report a linear increased prevalence of d3-GHR homozygosity with age in four independent cohorts of long-lived individuals: 841 participants [567 of the Longevity Genes Project (LGP) (8% increase; P = 0...
June 2017: Science Advances
https://www.readbyqxmd.com/read/28629824/comparison-of-shox-and-associated-elements-duplications-distribution-between-patients-l%C3%A4-ri-weill-dyschondrosteosis-idiopathic-short-stature-and-population-sample
#12
Katerina Hirschfeldova, Roman Solc
The effect of heterozygous duplications of SHOX and associated elements on Lėri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) development is less distinct when compared to reciprocal deletions. The aim of our study was to compare frequency and distribution of duplications within SHOX and associated elements between population sample and LWD (ISS) patients. A preliminary analysis conducted on Czech population sample of 250 individuals compared to our previously reported sample of 352 ISS/LWD Czech patients indicated that rather than the difference in frequency of duplications it is the difference in their distribution...
June 16, 2017: Gene
https://www.readbyqxmd.com/read/28628369/premier-league-academy-soccer-players-experiences-of-competing-in-a-tournament-bio-banded-for-biological-maturation
#13
Sean P Cumming, Daniel J Brown, Siobhan Mitchell, James Bunce, Dan Hunt, Chris Hedges, Gregory Crane, Aleks Gross, Sam Scott, Ed Franklin, Dave Breakspear, Luke Dennison, Paul White, Andrew Cain, Joey C Eisenmann, Robert M Malina
Individual differences in the growth and maturation have been shown to impact player performance and development in youth soccer. This study investigated Premier League academy players' experiences of participating in a tournament bio-banded for biological maturation. Players (N = 66) from four professional soccer clubs aged 11 and 14 years and between 85-90% of adult stature participated in a tournament. Players competed in three 11 vs 11 games on a full size pitch with 25-min halves. Sixteen players participated in four 15-min focus groups and were asked to describe their experiences of participating in the bio-banded tournament in comparison to age group competition...
June 19, 2017: Journal of Sports Sciences
https://www.readbyqxmd.com/read/28620124/a-high-throughput-field-based-phenotyping-technology-for-tall-biomass-crops
#14
Maria G Salas Fernandez, Yin Bao, Lie Tang, Patrick S Schnable
Recent advances in "omics" technologies have not been accompanied by equally efficient, cost-effective and accurate phenotyping methods required to dissect the genetic architecture of complex traits. Even though high-throughput phenotyping platforms have been developed for controlled environments, field-based aerial and ground technologies have only been designed and deployed for short stature crops. Therefore, we developed and tested Phenobot 1.0, an auto-steered and self-propelled field-based high-throughput phenotyping platform for tall dense canopy crops, such as sorghum (Sorghum bicolor L...
June 15, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28619408/children-crossing-streets-the-cognitive-task-of-pedestrians-across-nations
#15
David C Schwebel
BACKGROUND: About 100,000 children die worldwide in pedestrian crashes, more than 90% of whom live in low- and middle-income countries (LMICs). However, most existing research on children's ability to cross the street is conducted in high-income countries (HICs). OBJECTIVE: The present study discusses 4 ways pedestrian behavior in LMICs differs from that in HICs, influencing both children's ability to cross streets safely and adult efforts to train children in pedestrian safety...
March 2017: Annals of Global Health
https://www.readbyqxmd.com/read/28619046/identification-of-a-novel-ctcf-mutation-responsible-for-syndromic-intellectual-disability-a-case-report
#16
Fatma Bastaki, Pratibha Nair, Madiha Mohamed, Ethar Mustafa Malik, Mustafa Helmi, Mahmoud Taleb Al-Ali, Abdul Rezzak Hamzeh
BACKGROUND: Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe. MRD21 is caused by mutations in CCCTC-binding factor (CTCF) and this was established through only four unrelated cases, two of which had frameshift mutations. CTCF is a master transcriptional regulator that controls chromatin structure and may serve as insulator and transcriptional activator and repressor...
June 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28611948/van-wyk-grumbach-syndrome-with-kocher-debr%C3%A3-s%C3%A3-m%C3%A3-laigne-syndrome-case-report-of-a-rare-association
#17
Syed Mohd Razi, Abhinav Kumar Gupta, Deepak Chand Gupta, Manish Gutch, Keshav Kumar Gupta, Syeda Iqra Usman
BACKGROUND: Van Wyk-Grumbach syndrome (VWGS) is a rare presentation of juvenile hypothyroidism which manifests in females as chronic autoimmune hypothyroidism, isosexual pseudoprecocious puberty, and multicystic ovaries. It uniquely presents with short stature and delayed bone age unlike other causes of precocious puberty. Kocher-Debré-Sémélaigne (KDSS) is a rare presentation of juvenile hypothyroidism manifesting as calf muscle pseudohypertrophy, delayed contraction and relaxation of reflexes, and percussion myxedema...
February 2017: European Thyroid Journal
https://www.readbyqxmd.com/read/28611730/exploiting-nanobodies-in-the-detection-and-quantification-of-human-growth-hormone-via-phage-sandwich-enzyme-linked-immunosorbent-assay
#18
Hossam Murad, Jana Mir Assaad, Rasha Al-Shemali, Abdul Qader Abbady
BACKGROUND: Monitoring blood levels of human growth hormone (hGH) in most children with short stature deficiencies is crucial for taking a decision of treatment with extended course of daily and expensive doses of recombinant hGH (rhGH or Somatropin(®)). Besides, misusing of rhGH by sportsmen is banned by the World Anti-Doping Agency and thus sensitive GH-detecting methods are highly welcome in this field. Nanobodies are the tiniest antigen-binding entity derived from camel heavy chain antibodies...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28611552/a-novel-mutation-in-pitx2-in-a-patient-with-axenfeld-rieger-syndrome
#19
Susan J Hassed, Shibo Li, Weihong Xu, Ashley C Taylor
Axenfeld-Rieger syndrome is a rare autosomal dominant condition. Anomalies include anterior segment dysgenesis of the eye, dental anomalies, maxillary hypoplasia, periumbilical anomalies, and congenital heart defects. We report a patient with Peters anomaly, dysmorphic features, congenital heart defect, umbilical hernia, short stature, and developmental delay. Diagnostic sequencing of 23 genes known to be causally related to the condition was performed on the patient, parents, and maternal grandparents. A variant of uncertain significance in PITX2 was identified...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28608181/modified-maturity-offset-prediction-equations-validation-in-independent-longitudinal-samples-of-boys-and-girls
#20
Sławomir M Kozieł, Robert M Malina
BACKGROUND: Predicted maturity offset and age at peak height velocity are increasingly used with youth athletes, although validation studies of the equations indicated major limitations. The equations have since been modified and simplified. OBJECTIVE: The objective of this study was to validate the new maturity offset prediction equations in independent longitudinal samples of boys and girls. METHODS: Two new equations for boys with chronological age and sitting height and chronological age and stature as predictors, and one equation for girls with chronological age and stature as predictors were evaluated in serial data from the Wrocław Growth Study, 193 boys (aged 8-18 years) and 198 girls (aged 8-16 years)...
June 12, 2017: Sports Medicine
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