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https://www.readbyqxmd.com/read/28213670/emerging-genotype-phenotype-relationships-in-patients-with-large-nf1-deletions
#1
REVIEW
Hildegard Kehrer-Sawatzki, Victor-Felix Mautner, David N Cooper
The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germline type-1 NF1 microdeletions frequently exhibit dysmorphic facial features, overgrowth/tall-for-age stature, significant delay in cognitive development, large hands and feet, hyperflexibility of joints and muscular hypotonia...
February 17, 2017: Human Genetics
https://www.readbyqxmd.com/read/28207766/climate-change-across-seasons-experiment-ccase-a-new-method-for-simulating-future-climate-in-seasonally-snow-covered-ecosystems
#2
Pamela H Templer, Andrew B Reinmann, Rebecca Sanders-DeMott, Patrick O Sorensen, Stephanie M Juice, Francis Bowles, Laura E Sofen, Jamie L Harrison, Ian Halm, Lindsey Rustad, Mary E Martin, Nicholas Grant
Climate models project an increase in mean annual air temperatures and a reduction in the depth and duration of winter snowpack for many mid and high latitude and high elevation seasonally snow-covered ecosystems over the next century. The combined effects of these changes in climate will lead to warmer soils in the growing season and increased frequency of soil freeze-thaw cycles (FTCs) in winter due to the loss of a continuous, insulating snowpack. Previous experiments have warmed soils or removed snow via shoveling or with shelters to mimic projected declines in the winter snowpack...
2017: PloS One
https://www.readbyqxmd.com/read/28199739/obesity-in-children-with-congenital-adrenal-hyperplasia-in-the-minnesota-cohort-importance-of-adjusting-body-mass-index-for-height-age
#3
Kyriakie Sarafoglou, Gregory P Forlenza, O Yaw Addo, Jennifer Kyllo, Aida Lteif, P C Hindmarsh, Anna Petryk, Maria Teresa Gonzalez-Bolanos, Bradley S Miller, William Thomas
OBJECTIVES: To evaluate obesity and overweight in children with congenital adrenal hyperplasia (CAH), and associations with glucocorticoids, fludrocortisone and disease control. Adjusting body mass index for-height-age (BMIHA ) percentile is proposed to correct misclassification of obese/overweight status in CAH children with advanced bone age and tall-for-age stature. DESIGN: Longitudinal. PATIENTS: 194 children with CAH seen from 1970-2013: 124 salt-wasting (SW); 70 simple-virilizing (SV); 102 females...
February 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28191907/anthropometric-parameters-and-the-incidence-of-atrial-fibrillation-in-older-people-the-pro-v-a-study
#4
Caterina Trevisan, Stefania Maggi, Chiara Curreri, Giovanni Nante, Marianna Noale, Marina De Rui, Egle Perissinotto, Leonardo Sartori, Sabina Zambon, Gaetano Crepaldi, Enzo Manzato, Giuseppe Sergi
BACKGROUND: Atrial fibrillation (AF) has been associated with body size and central obesity, but the impact of different anthropometric measures in this relationship has been inadequately investigated. HYPOTHESIS: In this study, we examined the association between baseline anthropometric parameters with the incidence of AF in older people, hypothesizing that body size could impact the onset of AF more than fat distribution. METHODS: Our study included 1764 participants with a mean age of 74...
February 13, 2017: Clinical Cardiology
https://www.readbyqxmd.com/read/28126912/growth-hormone-with-aromatase-inhibitor-may-improve-height-in-cyp11b1-congenital-adrenal-hyperplasia
#5
Katherine Hawton, Sandra Walton-Betancourth, Gill Rumsby, Joseph Raine, Mehul Dattani
With an estimated prevalence of 1 in 100 000 births, 11β-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia (CAH) and is caused by mutations in CYP11B1 Clinical features include virilization, early gonadotropin-independent precocious puberty, hypertension, and reduced stature. The current mainstay of management is with glucocorticoids to replace deficient steroids and to minimize adrenal sex hormone overproduction, thus preventing virilization and optimizing growth. We report a patient with CAH who had been suboptimally treated and presented to us at 6 years of age with precocious puberty, hypertension, tall stature, advanced bone age, and a predicted final height of 150 cm...
January 26, 2017: Pediatrics
https://www.readbyqxmd.com/read/28061864/identification-of-brassinosteroid-genes-in-brachypodium-distachyon
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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...
November 1, 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
#17
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
#18
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
#19
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
#20
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
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