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Tall stature

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https://www.readbyqxmd.com/read/28915118/delayed-diagnosis-of-proopiomelanocortin-pomc-deficiency-with-type-1-diabetes-in-a-9-year-old-girl-and-her-infant-sibling
#1
Elif Ozsu, Allison Bahm
BACKGROUND: Proopiomelanocortin (POMC) protein, encoded by the POMC gene, is the precursor of adrenocorticotropic hormone (ACTH) that is released from the anterior pituitary gland. Homozygous mutations in the POMC gene is associated with hyperphagia, severe and early-onset obesity, adrenal insufficiency, hypopigmentation of the skin and red hair. CASE PRESENTATION: A 9-year-old girl from a consanguineous family of Iraqi origin was diagnosed with type 1 diabetes...
September 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28901405/genotype-phenotype-analysis-in-a-male-patient-with-partial-trisomy-4p-and-monosomy-20q-due-to-maternal-reciprocal-translocation%C3%A2-4-20-a-case-report
#2
Dong Wu, Hui Zhang, Qiaofang Hou, Hongdan Wang, Tao Wang, Shixiu Liao
Translocations are the most frequent structural aberration in the human genome. Carriers of balanced chromosome rearrangement exhibit an increased risk of abortion and/or a chromosomally‑unbalanced child. The present study reported a clinical and cytogenetic analysis of a child who exhibited typical trisomy 4p and monosomy 20q features, including intellectual disability, delayed speech, tall stature, seizures and facial dysmorphism. The karyotype of the proband exhibited 46, XY, add(20) (q13.3). The karyotype of the mother indicated a balanced translocation karyotype: 46, XX, t(4;20) (p15...
August 29, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28898651/from-early-farmers-to-norman-borlaug-the-making-of-modern-wheat
#3
David Vergauwen, Ive De Smet
If we wander through the countryside, passing fields of wheat, it is apparent that this crop is reasonably short in stature and that the stems carry large ears. However, this was not always the case. If we take a look at depictions of wheat throughout history, we observe that wheat used to be fairly tall. It was not until the second half of the 20(th) century that dwarf wheat varieties started to dominate the agricultural landscape. Underlying this short stature are the Reduced height (Rht) genes, which encode DELLA proteins and which formed the cornerstone of the Green Revolution...
September 11, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28883919/a-case-of-klinefelter-syndrome-with-hypersexual-desire
#4
Kingsley Okolie, Sumathy Perampalam, Anthony Barker, Christopher J Nolan
Klinefelter syndrome (KS) is a chromosomal disorder affecting males, with the typical karyotype of 47,XXY due to a supernumerary X chromosome, which causes progressive testicular failure resulting in androgen deficiency and infertility. Despite it being the most common sex chromosomal disorder, its diagnosis is easily missed. In addition to its classical clinical features of tall stature, gynaecomastia, small testes, and symptoms and signs of hypogonadism including infertility, KS is also often associated with neurocognitive, behavioural and psychiatric disorders...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28830457/growth-and-weight-gain-in-children-with-juvenile-idiopathic-arthritis-results-from-the-reacch-out-cohort
#5
Jaime Guzman, Tristan Kerr, Leanne M Ward, Jinhui Ma, Kiem Oen, Alan M Rosenberg, Brian M Feldman, Gilles Boire, Kristin Houghton, Paul Dancey, Rosie Scuccimarri, Alessandra Bruns, Adam M Huber, Karen Watanabe Duffy, Natalie J Shiff, Roberta A Berard, Deborah M Levy, Elizabeth Stringer, Kimberly Morishita, Nicole Johnson, David A Cabral, Maggie Larché, Ross E Petty, Ronald M Laxer, Earl Silverman, Paivi Miettunen, Anne-Laure Chetaille, Elie Haddad, Lynn Spiegel, Stuart E Turvey, Heinrike Schmeling, Bianca Lang, Janet Ellsworth, Suzanne E Ramsey, Johannes Roth, Sarah Campillo, Susanne Benseler, Gaëlle Chédeville, Rayfel Schneider, Shirley M L Tse, Roxana Bolaria, Katherine Gross, Debbie Feldman, Bonnie Cameron, Roman Jurencak, Jean Dorval, Claire LeBlanc, Claire St Cyr, Michele Gibbon, Rae S M Yeung, Ciarán M Duffy, Lori B Tucker
BACKGROUND: With modern treatments, the effect of juvenile idiopathic arthritis (JIA) on growth may be less than previously reported. Our objective was to describe height, weight and body mass index (BMI) development in a contemporary JIA inception cohort. METHODS: Canadian children newly-diagnosed with JIA 2005-2010 had weight and height measurements every 6 months for 2 years, then yearly up to 5 years. These measurements were used to calculate mean age- and sex-standardized Z-scores, and estimate prevalence and cumulative incidence of growth impairments, and the impact of disease activity and corticosteroids on growth...
August 22, 2017: Pediatric Rheumatology Online Journal
https://www.readbyqxmd.com/read/28774346/tall-stature-a-difficult-diagnosis
#6
REVIEW
Cristina Meazza, Chiara Gertosio, Roberta Giacchero, Sara Pagani, Mauro Bozzola
Referral for an assessment of tall stature is less common than for short stature. Tall stature is defined as a height more than two standard deviations above the mean for age. The majority of subjects with tall stature show a familial tall stature or a constitutional advance of growth (CAG), which is a diagnosis of exclusion. After a careful physical evaluation, tall subjects may be divided into two groups: tall subjects with normal appearance and tall subjects with abnormal appearance. In the case of normal appearance, the paediatric endocrinologist will have to evaluate the growth rate...
August 3, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28727891/prenatal-diagnosis-of-sotos-syndrome-characterized-by-fetal-growth-restriction
#7
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
#8
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%C3%A2-tall-stature-and-normal-karyotypes
#9
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 and 2013...
July 1, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28641376/height-weight-and-aerobic-fitnessin-relation-to-risk-of-atrial-fibrillation
#10
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
#11
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)...
August 2017: Plant Physiology
https://www.readbyqxmd.com/read/28585130/factors-associated-with-peripheral-neuropathy-in-type-2-diabetes-subclinical-versus-confirmed-neuropathy
#12
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
#13
Jean C Mezzalira, Olivier J F Bonnet, Paulo C de F Carvalho, Lidiane Fonseca, Carolina Bremm, Carlos C Mezzalira, Emilio A Laca
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. 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...
September 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
#14
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
#15
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
#16
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...
June 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28478947/what-treatment-for-a-child-with-tall-stature
#17
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
#18
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
#19
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
#20
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
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