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https://www.readbyqxmd.com/read/28061864/identification-of-brassinosteroid-genes-in-brachypodium-distachyon
#1
Claudia Corvalán, Sunghwa Choe
BACKGROUND: Brassinosteroids (BRs) are steroidal phytohormones that are involved in diverse physiological processes and affect many important traits, such as plant stature, stress tolerance, leaf angle, fertility, and grain filling. BR signaling and biosynthetic pathways have been studied in various plants, such as the model dicot Arabidopsis thaliana; however, relatively little is known about these pathways in monocots. RESULTS: To characterize BR-related processes in the model grass Brachypodium distachyon, we studied the response of these plants to the specific BR biosynthesis inhibitor, propiconazole (Pcz)...
January 6, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28057878/pseudoautosomal-abnormalities-in-terminal-azfb-c-deletions-are-associated-with-isochromosomes-yp-and-may-lead-to-abnormal-growth-and-neuropsychiatric-function
#2
A Castro, F Rodríguez, M Flórez, P López, B Curotto, D Martínez, A Maturana, M C Lardone, C Palma, V Mericq, M Ebensperger, F Cassorla
STUDY QUESTION: Are copy number variations (CNVs) in the pseudoautosomal regions (PARs) frequent in subjects with Y-chromosome microdeletions and can they lead to abnormal stature and/or neuropsychiatric disorders? SUMMARY ANSWER: Only subjects diagnosed with azoospermia factor (AZF)b+c deletions spanning to the end of the Y chromosome (i.e. terminal deletions) harbor Y isochromosomes and/or cells 45,X that lead to pseudoautosomal gene CNVs, which were associated with abnormal stature and/or neuropsychiatric disorders...
January 5, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28013319/determinants-of-bmi-category-changes-during-middle-childhood-and-adolescence-in-girls
#3
Katarzyna Kliś, Anna Majcher, Monika Paluchowska, Iwona Wronka
The aim of the study was to analyse the changes in BMI category between 7 and 16-18 years of age on the basis of continuous studies and evaluate which factors are related to the increase and decrease in BMI category. Data were collected from 1008 secondary school students aged 16-18 y. Body height and weight were measured and BMI was calculated. Information on height and body mass in earlier periods of life was retrieved from medical records. Age at menarche and socio-economic status was established on the basis of a questionnaire...
2016: Folia Medica Cracoviensia
https://www.readbyqxmd.com/read/27999091/regulation-of-bone-growth-via-ligand-specific-activation-of-estrogen-receptor-alpha
#4
Maryam Iravani, Marie K Lagerquist, Claes Ohlsson, Lars Savendahl
Estrogens are well known for their capacity to promote bone maturation and at high doses to induce growth plate closure and thereby stop further growth. High-dose estrogen treatment has therefore been used to limit growth in extremely tall girls. However, recent data suggest that this treatment may have severe side effects, including increased risk of cancer and reduced fertility. We hypothesized that estrogenic effects in bone are mediated via ERα signaling. Twelve-week old ovariectomized female C57BL/6 mice were subcutaneously injected for 4 weeks with E2 or selective ERα (PPT) or ERβ (DPN) agonists...
December 20, 2016: Journal of Endocrinology
https://www.readbyqxmd.com/read/27957294/adult-celiac-disease-patients-are-shorter-compared-with-their-peers-in-the-general-population
#5
Abbas Esmaeilzadeh, Azita Ganji, Ladan Goshayeshi, Kamran Ghafarzadegan, Mehdi Afzal Aghayee, Homan Mosanen Mozafari, Hassan Saadatniya, Abdolrasol Hayatbakhs, Vahid Ghavami Ghanbarabadi
BACKGROUND Delay in diagnosis of celiac disease (CD) occurs frequently, although its consequences are mostly not known. One of the presented symptoms in pediatric patients with CD is the short stature. However, far too little attention has been paid to physical features including height of adult patients with CD. This study was undertaken to evaluate whether patients suffering from CD are shorter in comparison with the general population without CD. As well, we evaluated probable correlations between demographic and physical features, main complains, serum anti tTG level, and intestinal pathology damage between short (lower quartile) versus tall stature (upper quartile) patients with CD...
October 2016: Middle East Journal of Digestive Diseases
https://www.readbyqxmd.com/read/27928398/high-myopia-associated-with-triple-x-syndrome
#6
Tomo Nishi, Nahoko Ogata
We report our findings in a 3-year-old girl who was suspected of having triple X syndrome because she was taller than +4.35 standard deviations for her age. She also had high myopia. Optical coherence tomography (OCT) showed that her retinas were thin, the lenses were subluxated, and the axial length was elongated. Our findings indicate that for a female child with tall stature, there should be thorough evaluations for endocrinological disorders, overgrowth syndromes, connective tissue disorders, and genetic disorders...
June 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27824615/a-case-of-46-xx-dysgenesis-and-marked-tall-stature-the-need-for-caution-in-interpreting-array-comparative-genomic-hybridization-cgh
#7
Vidya Kanamkote Narayanan, Mira Kharbanda, Malcolm Donaldson
BACKGROUND: Gonadal dysgenesis with an apparently normal 46,XX karyotype is a rare cause of hypergonadotrophic hypogonadism. Tall stature is not a widely recognized association. CASE REPORT: A 15-year-old girl presented with primary amenorrhoea. Examination showed a non-dysmorphic girl of normal intellect with no breast development (Tanner stage B1P4A1) who was tall compared with her parents: height standard deviation score (SDS) +1.56 vs. midparental height of +0...
December 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27738543/melanocortin-4-receptor-deficiency-phenotype-with-an-interstitial-18q-deletion-a-case-report-of-severe-childhood-obesity-and-tall-stature
#8
Sarah Abdullah, William Reginold, Courtney Kiss, Karen J Harrison, Jennifer J MacKenzie
Childhood obesity is a growing health concern, associated with significant physical and psychological morbidity. Childhood obesity is known to have a strong genetic component, with mutations in the melanocortin-4 receptor (MC4R) gene being the most common monogenetic cause of obesity. Over 166 different MC4R mutations have been identified in persons with hyperphagia, severe childhood obesity, and increased linear growth. However, it is unclear whether the MC4-R deficiency phenotype is due to haploinsufficiency or dominant-negative effects by the mutant receptor...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27701732/novel-dnmt3a-germline-mutations-are-associated-with-inherited-tatton-brown-rahman-syndrome
#9
Baozhong Xin, Tania Cruz Marino, Julia Szekely, Josianne Leblanc, Karen Cechner, Valerie Sency, Christine Wensel, Melinda Barabas, Valérie Therriault, Heng Wang
Tatton-Brown-Rahman syndrome (TBRS) was recently described in 13 isolated cases with de novo mutations in the DNMT3A gene. This autosomal dominant condition is characterized by tall stature, intellectual disability and a distinctive facial appearance. Here, we report six cases of inherited TBRS caused by novel DNMT3A germline mutations. The affected individuals belong to two sib-ships: 4 from an Old Order Amish family in America and 2 from a French Canadian family in Canada. All of them presented with characteristic features of TBRS, including dysmorphic facial features, increased height, intellectual disability, and variable additional features...
October 4, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27688808/19p13-2-microdeletion-including-nfix-associated-with-overgrowth-and-intellectual-disability-suggestive-of-malan-syndrome
#10
Hai-Yun Dong, Hui Zeng, Yi-Qiao Hu, Li Xie, Jian Wang, Xiu-Ying Wang, Yi-Feng Yang, Zhi-Ping Tan
BACKGROUND: Overgrowth syndromes represent clinically and genetically heterogeneous conditions characterized by a wide spectrum of malformations, tall stature, intellectual disability and/or macrocephaly. RESULTS: In a cohort of four clinically characterized patients with overgrowth syndrome without known causative gene mutation, we performed an Illumina SNP-array analysis to identify the pathogenic copy number variations. We identified two rare copy number variations harboring overgrowth syndrome related genes...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27643683/stature-signals-status-the-association-of-stature-status-and-perceived-dominance-a-thought-experiment
#11
Michael Hermanussen, Christiane Scheffler
Background: There is a common perception that tall stature results in social dominance. Evidence in meerkats suggests that social dominance itself may be a strong stimulus for growth. Relative size serves as the signal for individuals to induce strategic growth adjustments. Aim: We construct a thought experiment to explore the potential consequences of the question: is stature a social signal also in humans? We hypothesize that (1) upward trends in height in the lower social strata are perceived as social challenges yielding similar though attenuated upward trends in the dominant strata, and that (2) democratization, but also periods of political turmoil that facilitate upward mobility of the lower strata, are accompanied by upward trends in height...
September 9, 2016: Anthropologischer Anzeiger; Bericht über die Biologisch-anthropologische Literatur
https://www.readbyqxmd.com/read/27633569/17p13-3-microduplication-including-crk-leads-to-overgrowth-and-elevated-growth-factors-a-case-report
#12
Rohan K Henry, Caroline Astbury, Constantine A Stratakis, Scott E Hickey
17p13.3 microduplications classified as class I duplications involving YWHAE but not PAFAH1B1 (formerly LIS1) and class II duplications which extend to involve PAFAH1B1, are associated with diverse phenotypes including intellectual disability and structural brain malformations. We report a girl with an approximately 1.58 Mb apparently terminal gain of 17p13.3, which contains more than 20 genes including the YWHAE and CRK genes (OMIM: 164762). She had increased growth factors accompanied by pathologic tall stature...
October 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27539907/tall-stature-in-coronary-heart-disease-patients-is-associated-with-decreased-risk-of-frailty-in-late-life
#13
Miriam Lutski, David Tanne, Uri Goldbourt
AIM: We investigated the possible inverse association between tall stature and subsequent late-life frailty. METHODS: A subset of surviving men with coronary heart disease (n = 1232; mean age at baseline 57.0 ± 6.0 years), who previously participated in the Bezafibrate Infarction Prevention clinical trial (1990-1997) were reassessed during 2004-2008 (T1; n = 558) and 2011-2013 (T2; n = 351) at the mean ages of 72.6 ± 6.4 years and 77.2 ± 6...
August 19, 2016: Geriatrics & Gerontology International
https://www.readbyqxmd.com/read/27458660/does-an-ideal-prototype-of-a-twin-mother-exist
#14
Noy Hudadi, Natasa Tul, Andreja Trojner Bregar, Ivan Verdenik, Miha Lucovnik, Isaac Blickstein
Objective To evaluate the association of a set (or the lack thereof) of pre-gravid maternal features with a better outcome in terms of gestational age and birth weight of twins. Methods Analysis of a Slovenian population-based cohort of all dichorionic twin pairs born at ≥22 weeks during an 11-year period from 2002 to 2013. The independent variables included tall stature (≥170 cm), multiparity, and normal pregravid body mass index (BMI). The outcome variables included gestational age and total twin birth weight...
July 26, 2016: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/27437668/fbn1-the-disease-causing-gene-for-marfan-syndrome-and-other-genetic-disorders
#15
REVIEW
Lynn Y Sakai, Douglas R Keene, Marjolijn Renard, Julie De Backer
FBN1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all connective tissues and assembled into tissue-specific architectural frameworks. FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection. More than one thousand individual mutations in FBN1 are associated with Marfan syndrome, making genotype-phenotype correlations difficult...
October 10, 2016: Gene
https://www.readbyqxmd.com/read/27436265/de-novo-nonsense-and-frameshift-variants-of-tcf20-in-individuals-with-intellectual-disability-and-postnatal-overgrowth
#16
Johanna Schäfgen, Kirsten Cremer, Jessica Becker, Thomas Wieland, Alexander M Zink, Sarah Kim, Isabelle C Windheuser, Martina Kreiß, Stefan Aretz, Tim M Strom, Dagmar Wieczorek, Hartmut Engels
Recently, germline variants of the transcriptional co-regulator gene TCF20 have been implicated in the aetiology of autism spectrum disorders (ASD). However, the knowledge about the associated clinical picture remains fragmentary. In this study, two individuals with de novo TCF20 sequence variants were identified in a cohort of 313 individuals with intellectual disability of unknown aetiology, which was analysed by whole exome sequencing using a child-parent trio design. Both detected variants - one nonsense and one frameshift variant - were truncating...
December 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27410906/evaluation-and-phenotypic-characteristics-of-293-danish-girls-with-tall-stature-effects-of-oral-administration-of-natural-17%C3%AE-estradiol
#17
Emmie N Upners, Anders Juul
BACKGROUND: Reduction of adult height by sex steroid treatment was introduced decades ago in tall statured children, but controlled trials are lacking and treatment is controversial. In this study, we wanted to evaluate the phenotypic characteristics in girls referred due to tall stature and the effect of oral administration of 17β-estradiol on predicted adult height in girls. METHODS: A single-centre retrospective observational study of 304 girls evaluated consecutively due to tall stature between 1993 and 2013...
July 13, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27394708/a-novel-mc4r-deletion-coexisting-with-fto-and-mc1r-gene-variants-causes-severe-early-onset-obesity
#18
Vassos Neocleous, Christos Shammas, Marie M Phelan, Pavlos Fanis, Maria Pantelidou, Nicos Skordis, Christos Mantzoros, Leonidas A Phylactou, Meropi Toumba
OBJECTIVE: Heterozygous mutations on the melanocortin-4-receptor gene (MC4R) are the most frequent cause of monogenic obesity. We describe a novel MC4R deletion in a girl with severe early onset obesity, tall stature, pale skin and red hair. CASE REPORT: Clinical and hormonal parameters were evaluated in a girl born full-term by non-consanguineous parents. Her body mass index (BMI) at presentation (3 years) was 30 kg/m(2) (z-score: +4.5SDS). By the age of 5.2 years, she exhibited extreme linear growth acceleration and developed hyperinsulinemia...
July 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27345097/primary-spontaneous-pneumothorax-in-menstruating-women-has-high-recurrence
#19
Christopher K Mehta, Bryan P Stanifer, Susan Fore-Kosterski, Colin Gillespie, Anjana Yeldandi, Shari Meyerson, David D Odell, Malcolm M DeCamp, Ankit Bharat
BACKGROUND: Primary spontaneous pneumothorax (PSP) is treated on the basis of studies that have predominantly consisted of tall male subjects. Here, we determined recurrence of PSP in average-statured menstruating women and studied prevalence of catamenial pneumothorax (CP) in this population. METHODS: Men and menstruating women, aged 18 to 55 years, without underlying lung disease or substance abuse were retrospectively studied between 2009 and 2015. A chest pathologist reviewed all specimens for thoracic endometriosis...
October 2016: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/27341495/resource-availability-alters-biodiversity-effects-in-experimental-grass-forb-mixtures
#20
Alrun Siebenkäs, Jens Schumacher, Christiane Roscher
Numerous experiments, mostly performed in particular environments, have shown positive diversity-productivity relationships. Although the complementary use of resources is discussed as an important mechanism explaining diversity effects, less is known about how resource availability controls the strength of diversity effects and how this response depends on the functional composition of plant communities. We studied aboveground biomass production in experimental monocultures, two- and four-species mixtures assembled from two independent pools of four perennial grassland species, each representing two functional groups (grasses, forbs) and two growth statures (small, tall), and exposed to different combinations of light and nutrient availability...
2016: PloS One
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