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https://www.readbyqxmd.com/read/28727891/prenatal-diagnosis-of-sotos-syndrome-characterized-by-fetal-growth-restriction
#1
Yi Zhang, Shaobing Lin, Qun Fang
Sotos syndrome (OMIM#117550) is a overgrowth syndrome caused by mutations of the NSD1 gene.(1) The clinical manifestations include macrocephaly, tall stature, cardiac anomalies, and behavioral problems.(2,3) Affected individuals also have an increased risk of neoplasms. This article is protected by copyright. All rights reserved.
July 20, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28696078/the-phenotype-of-ezh2-haploinsufficiency-1-2-mb-deletion-at-7q36-1-in-a-child-with-tall-stature-and-intellectual-disability
#2
Tanay Suri, Abhijit Dixit
Weaver syndrome is a rare overgrowth syndrome with distinct facial features in young children and variable learning disability. Heterozygous missense mutations in EZH2 are present in over 90% of patients with Weaver syndrome but the exact mechanism by which EZH2 mutations cause Weaver syndrome is unknown. We report an 11-year-old boy with a de novo 1.2-Mb deletion at 7q36.1 including EZH2 who has tall stature, significant intellectual disability, and some physical features of Weaver syndrome. Emerging evidence in the literature indicates that Weaver syndrome EZH2 mutations may result in loss of function of the gene and our report suggests that haploinsufficiency of EZH2 may replicate the clinical phenotype of Weaver syndrome...
July 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28667773/short-stature-homeobox-containing-gene-duplications-in-3-7-of-girls-with-tall-stature-and-normal-karyotypes
#3
Emmie N Upners, Rikke B Jensen, Ewa Rajpert-De Meyts, Morten Dunø, Lise Aksglaede, Anders Juul
AIM: The short stature homeobox containing gene (SHOX) plays an important role in short stature, but has not been explored in detail in a tall stature population before. This study explored the prevalence of SHOX aberrations in girls diagnosed with idiopathic tall stature with a normal karyotype. METHODS: We studied SHOX aberrations in 81 girls with a median age of 10.43 (7.17-12.73) years diagnosed with tall stature who were referred to our clinic at Copenhagen University Hospital, Denmark, between 2003-2013...
July 1, 2017: Acta Paediatrica
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/28620124/a-high-throughput-field-based-phenotyping-technology-for-tall-biomass-crops
#5
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/28585130/factors-associated-with-peripheral-neuropathy-in-type-2-diabetes-subclinical-versus-confirmed-neuropathy
#6
Yogendranathsing Unmar, Mohammad Ishraq Zafar, Feng Gao
This study determined the prevalence of diabetic peripheral neuropathy (DPN) and subclinical DPN (sDPN) in patients with type 2 diabetes mellitus (T2DM) using nerve conduction study (NCS) as a diagnostic tool. We also investigated the factors associated with the development of sDPN and compared factors between the sDPN and confirmed DPN (cDPN). This cross-sectional study involved 240 T2DM patients who were successively admitted to the endocrinology wards of Wuhan Union Hospital over the period of January to December 2014...
June 2017: Journal of Huazhong University of Science and Technology. Medical Sciences
https://www.readbyqxmd.com/read/28542901/mechanisms-and-implications-of-a-type-iv-functional-response-for-short-term-intake-rate-of-dry-matter-in-large-mammalian-herbivores
#7
J C Mezzalira, O J F Bonnet, P C de F Carvalho, L Fonseca, C Bremm, C C Mezzalira, E A Laca
1.The functional response (i.e. the relationship between consumers' intake rate and resource density) is central in plant-herbivore interactions. Its shape and the biological processes leading to it have significant implications for both foraging theory and ecology of grazing systems. 2.A type IV functional response (i.e. dome-shaped relationship) of short-term intake rate of dry matter (intake while grazing) has rarely been reported for large herbivores and the conditions that can lead to it are poorly understood...
May 19, 2017: Journal of Animal Ecology
https://www.readbyqxmd.com/read/28535166/adult-height-prevalent-coronary-calcium-score-and-incident-cardiovascular-outcomes-in-a-multi-ethnic-cohort
#8
Joseph Yeboah, Michael J Blaha, Erin D Michos, Waqas Qureshi, Michael Miedema, Peter Flueckiger, Carlos J Rodriguez, Moyses Szklo, Alain G Bertoni
We assessed the relationships among adult height, coronary artery calcium (CAC) scores, incident atherosclerotic cardiovascular disease (ASCVD) events, and atrial fibrillation (Afib) in a multi-ethnic cohort. We used race/ethnicity -specific height (dichotomized by median and quartiles) as the predictor variable within the four race/ethnic groups in the Multi-Ethnic Study of Atherosclerosis (N = 6,814). After a mean of 10.2 years of follow-up (2000-2012), 556 ASCVD events (8.2%) and 539 afib events (7.9%) occurred...
May 23, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28527289/-characterization-of-patients-with-skeletal-genetic-diseases-in-a-colombian-referral-center
#9
Harvy Mauricio Velasco, Lina Patricia Buelvas
INTRODUCTION: Short height in Colombia has an estimated prevalence of 10%. The 2009 Nosology and Classification of Skeletal Genetic Diseases described 456 clinical conditions using biochemical, molecular and radiological criteria for diagnosis. OBJECTIVE: To analyze demographic, epidemiological and clinical variables in a group of patients with skeletal genetic diseases referred to the Instituto de Ortopedia Infantil Roosevelt. MATERIALS AND METHODS: Patients referred between 2008 and 2014 were analyzed filtering 167 diagnoses of the International Classification of Diseases, 10th revision (ICD 10), related to skeletal genetic diseases...
June 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28483364/how-to-investigate-a-child-with-excessive-growth
#10
Régis Coutant, Aurélie Donzeau, Anne Decrequy, Mathilde Louvigné, Natacha Bouhours-Nouet
The diagnostic approach to tall stature in children is based on collecting birth data (macrosomia), sizes and family puberty, a family history of constitutional or pathological tall stature, search for a delay of development, dysmorphia, disproportion, analysis of the growth velocity (normal or accelerated), general examination and assessment of puberty, and bone age. When there is a history of psychomotor retardation, a family history of pathological tall stature, or a disproportion in the clinical examination, the genetic causes of tall stature will be mentioned...
May 5, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28478947/what-treatment-for-a-child-with-tall-stature
#11
Thomas Edouard
Tall stature is statistically defined as a height standard deviation score (SDS) above 2 for a given age, sex and population group. The most common cause of tall stature is constitutional (often familial) tall stature. However, underlying endocrine or genetic disorders must be considered as some of them may require specific treatment or management. In constitutional tall stature, healthy children are referred to discuss treatment aiming at reducing adult height. The indications of treatment are rare and usually discussed in girls with extremely tall stature (height SDS>4, corresponding to 185cm in girls)...
May 4, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28457687/sex-differences-in-the-impact-of-thinness-overweight-obesity-and-parental-height-on-adolescent-height
#12
Orit Pinhas-Hamiel, Brian Reichman, Avi Shina, Estela Derazne, Dorit Tzur, Dror Yifrach, Itay Wiser, Arnon Afek, Ari Shamis, Amir Tirosh, Gilad Twig
PURPOSE: The secular trend of increasing weight may lead to a decline in height gain compared with the genetic height potential. The impact of weight on height in healthy male and female adolescents compared with their genetic height was assessed. METHODS: Height and weight were measured in Israeli adolescent military recrutees aged 16-19 years between 1967 and 2013. The study population comprised 355,229 recrutees for whom parental height measurements were documented...
August 2017: Journal of Adolescent Health: Official Publication of the Society for Adolescent Medicine
https://www.readbyqxmd.com/read/28449304/a-case-of-familial-transmission-of-the-newly-described-dnmt3a-overgrowth-syndrome
#13
Gabrielle Lemire, Julie Gauthier, Jean-François Soucy, Marie-Ange Delrue
DNMT3A-Overgrowth Syndrome (also known as Tatton-Brown-Rahman Syndrome) (MIM 615879) has recently been described in 13 individuals with de novo heterozygous mutations in DNMT3A gene. This autosomal dominant condition is characterized by overgrowth, dysmorphic facial features and moderate intellectual disability. Missense and truncating point mutations, a small in-frame deletion, as well as microdeletion 2p23 have been reported. Moreover, DNMT3A is commonly somatically mutated in acute myeloid leukemia. We herein report a family with two siblings and their father affected by the syndrome...
April 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28442527/a-novel-fibrillin-1-gene-mutation-leading-to-marfan-syndrome-in-a-korean-girl
#14
Hyo-Kyoung Nam, Myung-Hyun Nam, Kee-Soo Ha, Young-Jun Rhie, Kee-Hyoung Lee
Marfan syndrome is an autosomal dominant genetic disorder caused by a connective tissue defect. A nine-year-old girl was referred to our pediatric endocrinology clinic for tall stature. Physical examination revealed a lens dislocation with strabismus, high palate, positive wrist and thumb signs, joint hypermobility, and pes planus. Transthoracic echocardiography revealed dilatation of the aortic root. She was diagnosed with Marfan syndrome based on the revised Ghent diagnostic criteria. Molecular investigation identified a heterozygous c...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28360449/balanced-reciprocal-translocation-t-x-1-in-a-girl-with-tall-stature-and-primary-amenorrhea
#15
Zahra Razavi, Hossein Emad Momtaz
Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome due to nonrandom X-inactivation. In this article, we describe a healthy 15.5-year-old girl with primary amenorrhea, gonadal dysgenesis, and tall stature without other manifestations of the Turner syndrome...
March 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28359575/inaccuracy-and-bias-in-adult-skeletal-age-estimation-assessing-the-reliability-of-eight-methods-on-individuals-of-varying-body-sizes
#16
Catherine E Merritt
Accurate age estimations are essential for identifying human skeletal remains and narrowing missing persons searches. This study examines how BMI, body mass, and stature influence inaccuracy and bias in adult skeletal age estimations obtained using eight methods. 746 skeletons from the Hamann-Todd and William Bass Collections were used. Underweight BMI, light body mass, and short-stature individuals have the most error associated with their age estimates and are consistently under-aged between 3 to 13years...
March 18, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28338660/germline-and-somatic-genetics-of-osteosarcoma-connecting-aetiology-biology-and-therapy
#17
REVIEW
D Matthew Gianferante, Lisa Mirabello, Sharon A Savage
Clinical outcomes and treatment modalities for osteosarcoma, the most common primary cancer of bone, have changed very little over the past 30 years. The peak incidence of osteosarcoma occurs during the adolescent growth spurt, which suggests that bone growth and pubertal hormones are important in the aetiology of the disease. Tall stature, high birth weight and certain inherited cancer predisposition syndromes are well-described risk factors for osteosarcoma. Common genetic variants are also associated with osteosarcoma...
August 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28323226/herc1-mutations-in-idiopathic-intellectual-disability
#18
G Eda Utine, Ekim Z Taşkıran, Can Koşukcu, Beren Karaosmanoğlu, Naz Güleray, Özlem Akgün Doğan, P Özlem Şimşek Kiper, Koray Boduroğlu, Mehmet Alikaşifoğlu
HERC1 is a member of HERC protein family of ubiquitin ligases and is a negative regulator of the mTOR pathway. It is also a guanine nucleotide exchange factor for ARF and Rab family GTPases. Biallelic mutations in HERC1 were recently shown to cause a human phenotype with overgrowth and intellectual disability as main features. Herein we describe clinical features in another patient with homozygous novel mutation in HERC1. Moderate to severe intellectual disability, hypotonia, macrocephaly, tall stature, and facial features appear as main clinical features of the condition...
May 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28301320/analysis-of-growth-hormone-receptor-gene-expression-in-tall-and-short-stature-children
#19
Sara Pagani, Giorgio Radetti, Cristina Meazza, Mauro Bozzola
BACKGROUND: The majority of children who present for evaluation of tall stature fall under the diagnosis of constitutional tall stature (CTS). METHODS: To investigate mechanisms of tall stature, we evaluated serum IGF-I values and the expression of the GHR gene in the peripheral blood cells of 46 subjects with normal height, 38 with tall stature and 30 healthy children with short stature. RESULTS: Our results showed significantly lower IGF-I levels in children with short stature (-0...
April 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28274950/management-of-endocrine-disease-diagnostic-and-therapeutic-approach-of-tall-stature
#20
REVIEW
Edoarda V A Albuquerque, Renata C Scalco, Alexander A L Jorge
Tall stature is defined as a height of more than 2 standard deviations (s.d.) above average for same sex and age. Tall individuals are usually referred to endocrinologists so that hormonal disorders leading to abnormal growth are excluded. However, the majority of these patients have familial tall stature or constitutional advance of growth (generally associated with obesity), both of which are diagnoses of exclusion. It is necessary to have familiarity with a large number of rarer overgrowth syndromes, especially because some of them may have severe complications such as aortic aneurysm, thromboembolism and tumor predisposition and demand-specific follow-up approaches...
June 2017: European Journal of Endocrinology
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