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https://www.readbyqxmd.com/read/28428227/mechanisms-in-endocrinology-the-multiple-facets-of-gh-lessons-from-lifetime-untreated-isolated-gh-deficiency-due-to-ghrh-receptor-mutation
#1
Manuel Aguiar-Oliveira, Anita Ho Souza, Carla R Oliveira, Viviane C Campos, Luiz A Oliveira-Neto, Roberto Salvatori
Twenty years ago, we described a kindred of 105 individuals with isolated GH deficiency (IGHD) in Itabaianinha County, in Brazilian northeast, due to a homozygous mutation in the GH-releasing hormone receptor gene. These subjects exhibit markedly reduced GH responsiveness to stimulatory tests, and anterior pituitary hypoplasia. Serum concentrations of IGF-I, IGF binding protein type 3, and the acid-labile subunit are markedly reduced, with a lesser reduction of IGF-II. The most striking physical findings of these IGHD individuals are the proportionate short stature, doll facies, high-pitched voice, and visceral obesity with reduced fat free mass...
April 20, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28427749/a-clinical-method-for-detecting-bronchial-reversibility-using-a-breath-sound-spectrum-analysis-in-infants
#2
Mayumi Enseki, Mariko Nukaga, Hideyuki Tabata, Kota Hirai, Shinichi Matsuda, Hiroyuki Mochizuki
BACKGROUND: Using a breath sound analyzer, we investigated clinical parameters for detecting bronchial reversibility in infants. METHODS: A total of 59 infants (4-39 months, mean age 7.8 months) were included. In Study 1, the intra- and inter-observer variability was measured in 23 of 59 infants. Breath sound parameters, the frequency at 99% of the maximum frequency (F99), frequency at 25%, 50%, and 75% of the power spectrum (Q25, Q50, and Q75), and highest frequency of inspiratory breath sounds (HFI), and parameters obtained using the ratio of parameters, i...
May 2017: Respiratory Investigation
https://www.readbyqxmd.com/read/28426343/de-novo-mutation-of-kat6b-gene-causing-atypical-say-barber-biesecker-young-simpson-syndrome-or-genitopatellar-syndrome
#3
Guoqiang Li, Niu Li, Juan Li, Yu Ding, Tingting Yu, Xiumin Wang, Jian Wang
Mutations in KAT6B gene are responsible for Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS), with most mutations occurring in exon 18. A 4-year-old Chinese boy presented with short stature but no other clinical features of SBBYSS or GPS had a de novo novel nonsense pathogenic mutation in exon 14 of the KAT6B gene at position c.2636T>A (p.Leu879X). The correlation analysis of genotype-phenotype indicated distinctive clinical features (short stature, growth hormone deficiency, and delayed bone age) compared with the classical mutations of KAT6B gene...
April 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/28425089/high-diagnostic-yield-of-clinically-unidentifiable-syndromic-growth-disorders-by-targeted-exome-sequencing
#4
Yoo-Mi Kim, Yun-Jin Lee, Jae Hong Park, Hyoung-Doo Lee, Chong Kun Cheon, Su-Young Kim, Jae-Yeon Hwang, Ja-Hyun Jang, Han-Wook Yoo
As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping. Early diagnosis leads to the proper management of the patient and providing genetic counseling for family members at risk in a timely manner. We conducted targeted exome sequencing to identify the genetic causes of undiagnosed syndromic short stature or overgrowth in 15 pediatric patients from 13 families in Korea...
April 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28423991/changes-in-body-mass-stature-and-bmi-in-south-african-elite-u18-rugby-players-from-different-racial-groups-from-2002-2012
#5
Justin Durandt, Mervin Green, Herman Masimla, Mike Lambert
The purpose of this study was to determine whether there are differences between racial groups for body mass, stature and body mass index (BMI) in South African elite U18 rugby players and whether there were significant changes in these measurements between 2002 and 2012. Self-reported body mass and stature were obtained from U18 players (n = 4007) who attended the national tournament during this period. BMI was calculated for each player.White players were 9.8 kg heavier than black players, who were 2.3 kg heavier than coloured players (P < 0...
April 20, 2017: Journal of Sports Sciences
https://www.readbyqxmd.com/read/28422525/soccer-match-play-represents-an-important-component-of-the-power-training-stimulus-in-premier-league-players
#6
Ryland Morgans, Rocco Di Michele, Barry Drust
PURPOSE: Competitive match-play is a dominant component of the physical load completed by soccer players within a training micro-cycle. Characterising the temporal disruption in homeostasis that follows exercise may provide some insight into the potential for match-play to elicit an adaptive response. METHODS: Countermovement jump (CMJ) performance was characterised 3 days post-match for 15 outfield players from an English Premier League soccer team (age: 25.8 ± 4...
April 19, 2017: International Journal of Sports Physiology and Performance
https://www.readbyqxmd.com/read/28422341/late-pubertal-growth-spurt-in-a-girl-with-growth-hormone-deficiency-is-kaufmann-therapy-effective-in-a-girl-with-short-stature-who-responds-poorly-to-growth-hormone-therapy-and-estrogen-replacement-therapy
#7
Katsuhiko Yasuda
A Japanese senior high school girl aged 18 years and 5 months with growth hormone deficiency was referred for primary amenorrhea. Her height was 1.36 m, and her bodyweight was 23.5 kg. She had received daily growth hormone therapy from the age of 5 years. Growth hormone therapy was discontinued at the age of 16 years and 11 months, and estrogen-replacement therapy (ERT) was started to stimulate secondary sexual characteristics. Although ERT was performed until the age of 18 years and 11 months, genital bleeding did not occur...
April 19, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28422132/haploinsufficiency-for-ankrd11-flanking-genes-makes-the-difference-between-kbg-and-16q24-3-microdeletion-syndromes-12-new-cases
#8
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi
16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability...
April 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28421607/laterality-and-grip-strength-influence-hand-bone-micro-architecture-in-modern-humans-an-hrpqct-study
#9
Nicolas Reina, Etienne Cavaignac, William H Trousdale, Jean-Michel Laffosse, José Braga
It is widely hypothesized that mechanical loading, specifically repetitive low-intensity tasks, influences the inner structure of cancellous bone. As such, there is likely a relationship between handedness and bone morphology. The aim of this study is to determine patterns in trabecular bone between dominant and non-dominant hands in modern humans. Seventeen healthy patients between 22 and 32 years old were included in the study. Radial carpal bones (lunate, capitate, scaphoid, trapezium, trapezoid, 1st, 2nd and 3rd metacarpals) were analyzed with high-resolution micro-computed tomography...
April 19, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28420523/molecular-cytogenetic-characterization-and-prenatal-diagnosis-of-familial-xp22-33-microdeletion-encompassing-short-stature-homeobox-gene-in-a-male-fetus-with-a-favorable-outcome
#10
Chih-Ping Chen, Tsang-Ming Ko, Liang-Kai Wang, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chien-Wen Yang, Dai-Dyi Town, Meng-Shan Lee, Wayseen Wang
No abstract text is available yet for this article.
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28419241/central-hypothyroidism-due-to-a-trhr-mutation-causing-impaired-ligand-affinity-and-transactivation-of-gq
#11
Marta García, Jesús González de Buitrago, Mireia Jiménez-Rosés, Leonardo Pardo, Patricia M Hinkle, José C Moreno
Context: Central congenital hypothyroidism (CCH) is an underdiagnosed disorder characterized by deficient production and bioactivity of TSH leading to low thyroid hormone synthesis. TRH receptor (TRHR) defects are rare recessive disorders usually associated with incidentally identified CCH and short stature in childhood. Objectives: Clinical and genetic characterization of a consanguineous family of Roma origin with central hypothyroidism and identification of underlying molecular mechanisms...
April 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28418105/climate-and-successional-related-changes-in-functional-composition-of-european-forests-are-strongly-driven-by-tree-mortality
#12
Paloma Ruiz-Benito, Sophia Ratcliffe, Miguel A Zavala, Jordi Martínez-Vilalta, Albert Vilà-Cabrera, Francisco Lloret, Jaime Madrigal-González, Christian Wirth, Sarah Greenwood, Gerald Kändler, Aleksi Lehtonen, Jens Kattge, Jonas Dahlgren, Alistair S Jump
Intense droughts combined with increased temperatures are one of the major threats to forest persistence in the 21(st) century. Despite the direct impact of climate change on forest growth and shifts in species abundance, the effect of altered demography on changes in the composition of functional traits is not well known. We sought to: (1) quantify the recent changes in functional composition of European forests; (2) identify the relative importance of climate change, mean climate and forest development for changes in functional composition; and (3) analyse the roles of tree mortality and growth underlying any functional changes in different forest types...
April 18, 2017: Global Change Biology
https://www.readbyqxmd.com/read/28412928/poplar-stem-transcriptome-is-massively-remodelled-in-response-to-single-or-repeated-mechanical-stimuli
#13
Lise Pomiès, Mélanie Decourteix, Jérôme Franchel, Bruno Moulia, Nathalie Leblanc-Fournier
BACKGROUND: Trees experience mechanical stimuli -like wind- that trigger thigmomorphogenetic syndrome, leading to modifications of plant growth and wood quality. This syndrome affects tree productivity but is also believed to improve tree acclimation to chronic wind. Wind is particularly challenging for trees, because of their stature and perenniality. Climate change forecasts are predicting that the occurrence of high wind will worsen, making it increasingly vital to understand the mechanisms regulating thigmomorphogenesis, especially in perennial plants...
April 17, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28411740/optimal-bus-temperature-for-thermal-comfort-during-a-cool-day
#14
K B Velt, H A M Daanen
A challenge for electric buses is to minimize heating and cooling power to maximally extend the driving range, but still provide sufficient thermal comfort for the driver and passengers. Therefore, we investigated the thermal sensation (TS) and thermal comfort (TC) of passengers in buses during a cool day (temperature 13.4 ± 0.5 °C, relative humidity (RH) 60 ± 5.8%) typical for the Dutch temperate maritime climate. 28 Males and 72 females rated TS and TC and gave information on age, stature, body weight and worn garments...
July 2017: Applied Ergonomics
https://www.readbyqxmd.com/read/28411727/evaluation-of-the-indonesian-national-standard-for-elementary-school-furniture-based-on-children-s-anthropometry
#15
Yanto, Chih-Wei Lu, Jun-Ming Lu
In Indonesia, National Standardization Agency of Indonesia issued the Indonesian National Standard SNI 12-1015-1989 and SNI 12-1016-1989 to define the type of furniture dimensions that should be used by children in the elementary school level. This study aims to examine whether the current national standards for elementary school furniture dimensions issued by National Standardization Agency of Indonesia match the up-to-date Indonesian children's anthropometry. Two types of school furniture, small type (Type I, for grade 1-3) and large type (Type II, for grade 4-6), were evaluated in terms of seat height, seat depth, seat width and backrest height of a chair as well as the height and underneath height of a desk...
July 2017: Applied Ergonomics
https://www.readbyqxmd.com/read/28411587/novel-stac3-mutations-in-the-first-non-amerindian-patient-with-native-american-myopathy
#16
Michelle Grzybowski, Anne Schänzer, Alexander Pepler, Corina Heller, Bernd A Neubauer, Andreas Hahn
Native American myopathy (NAM) is an autosomal recessive congenital myopathy, up till now exclusively described in Lumbee Indians who harbor one single homozygous mutation (c.1046G>C, pW284S) in the STAC3 gene, encoding a protein important for proper excitation-contraction coupling in muscle. Here, we report the first non-Amerindian patient of Turkish ancestry, being compound heterozygous for the mutations c.862A>T (p.K288*) and c.432+4A>T (aberrant splicing with skipping of exon 4). Symptoms in NAM include congenital muscle weakness and contractures, progressive scoliosis, early ventilatory failure, a peculiar facial gestalt with mild ptosis and downturned corners of the mouth, short stature, and marked susceptibility to malignant hyperthermia...
April 15, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28409864/secular-change-in-adult-stature-associated-with-modernization-in-vanuatu
#17
Kathryn M Olszowy, Cheng Sun, Harold Silverman, Alysa Pomer, Kelsey N Dancause, Chim W Chan, Gwang Lee, Len Tarivonda, Akira Kaneko, Charles Weitz, J Koji Lum, Ralph M Garruto
OBJECTIVE: To determine whether: (1) there is a secular increase in adult stature in Vanuatu, and (2) whether adult stature is positively associated with modernization in Vanuatu. METHODS: This study reports on stature measurements collected on 650 adult (age > 17 years) men and women from four islands of varying economic development in Vanuatu. Measurements were collected as part of the Vanuatu Health Transitions Research Project in 2007 and 2011. RESULTS: Stature increased significantly in adults born between the 1940s and 1960s in Vanuatu, before leveling off in those born between the 1970s and 1990s...
April 14, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28409201/spontaneous-polyploidization-in-cucumber
#18
Axel O Ramírez-Madera, Nathan D Miller, Edgar P Spalding, Yiqun Weng, Michael J Havey
This is the first quantitative estimation of spontaneous polyploidy in cucumber and we detected 2.2% polyploids in a greenhouse study. We provide evidence that polyploidization is consistent with endoreduplication and is an on-going process during plant growth. Cucumber occasionally produces polyploid plants, which are problematic for growers because these plants produce misshaped fruits with non-viable seeds. In this study, we undertook the first quantitative study to estimate the relative frequency of spontaneous polyploids in cucumber...
April 13, 2017: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
https://www.readbyqxmd.com/read/28407820/-clinical-features-of-hereditary-distal-renal-tubular-acidosis-and-slc4a1-gene-mutation
#19
Juan DU, Qian-Qian Pang, Yan Jiang, Ou Wang, Mei Li, Xiao-Ping Xing, Wei-Bo Xia
OBJECTIVE: To study the clinical features of two families with distal renal tubular acidosis (dRTA) and mutations in the pathogenic gene SLC4A1. METHODS: Family investigation, medical history collection, and measurement of biochemical parameters were performed to analyze the clinical phenotype and genetic characteristics of dRTA. Direct sequencing was used to detect SLC4A1 gene mutations. RESULTS: Three patients in these two families (two of them were mother and son) were diagnosed with dRTA with typical clinical features, including short stature, metabolic acidosis, alkaline urine, hypokalemia, and nephrocalcinosis...
April 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28407409/clinical-and-molecular-characterization-of-a-second-family-with-the-12q14-microdeletion-syndrome-and-review-of-the-literature
#20
Rita Fischetto, Orazio Palumbo, Federica Ortolani, Pietro Palumbo, Maria Pia Leone, Francesco Andrea Causio, Sabino Pesce, Maria Christina Digilio, Massimo Carella, Francesco Papadia
The 12q14 microdeletion syndrome is a rare condition characterized by low birth weight, failure to thrive, short stature, learning disabilities, and osteopoikilosis. To date, 20 cases of 12q14 deletion have been reported in the literature, displaying both phenotypic than genetic variability. We report on three familial cases, a mother and two brothers, with severe short stature. The mother and elder brother presented with osteopoikilosis while the younger brother had severe short stature and developmental delay...
April 13, 2017: American Journal of Medical Genetics. Part A
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