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https://www.readbyqxmd.com/read/29333085/next-generation-sequencing-expression-profiling-of-mitochondrial-subunits-in-men-with-klinefelter-syndrome
#1
Michele Salemi, Laura Cimino, Marika Marino, Rossella Cannarella, Rosita A Condorelli, Corrado Romano, Sandro La Vignera, Aldo E Calogero
Objectives: Klinefelter syndrome (KS) is one of the most common sex-chromosome disorders as it affects up to 1 in every 600-1000 newborn males. Men with KS carry one extra X chromosome and they usually present a 47,XXY karyotype, but less frequent variants have also been reported in literature. KS typical symptoms include tall stature, gynecomastia, broad hips, hypogonadism and absent spermatogenesis. The syndrome is also related to a wide range of cognitive deficits, among which language-based learning disabilities and verbal cognition impairment are frequently diagnosed...
2018: International Journal of Medical Sciences
https://www.readbyqxmd.com/read/29304424/association-of-weight-and-height-with-timing-of-deciduous-tooth-emergence
#2
Ashraf I Shaweesh, Ola B Al-Batayneh
OBJECTIVES: The aim of this study was to associate weight and height with the timing of deciduous tooth emergence. METHODS: 1756 children, aged from 1 to 33 months (755 females and 1001 males) had been previously examined for the timing of deciduous tooth emergence and their weights and heights measured. Children were categorized into weight and height groups (underweight, normal, overweight, short stature, normal and tall stature). Probit regression analysis was used to calculate the ages at emergence of each deciduous tooth...
December 29, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/29244146/ezh2-mutations-found-in-the-weaver-overgrowth-syndrome-cause-a-partial-loss-of-h3k27-histone-methyltransferase-activity
#3
Julian C Lui, Kevin M Barnes, Lijin Dong, Shanna Yue, Evan Graber, Robert Rapaport, Andrew Dauber, Ola Nilsson, Jeffrey Baron
Context: Weaver syndrome is characterized by tall stature, advanced bone age, characteristic facies, and variable intellectual disability. It is caused by heterozygous mutations in EZH2, a histone methyltransferase responsible for H3K27 trimethylation. However, no early truncating mutations have been identified, suggesting that null mutations do not cause Weaver syndrome. Objective: To test alternative hypotheses that EZH2 variants found in Weaver syndrome either cause a gain of function or a partial loss of function...
December 13, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29178512/body-size-and-risk-of-atrial-fibrillation-a-cohort-study-of-1-1-million-young-men
#4
Kasper Andersen, Finn Rasmussen, Martin Neovius, Per Tynelius, Johan Sundström
BACKGROUND: While tall stature has been related to lower risk of vascular disease, it has been proposed as a risk factor for atrial fibrillation. Little is known about other anthropometric measures and their joint effects on risk for atrial fibrillation. OBJECTIVES: We aim to investigate associations and potential joint effects of height, weight, body surface area (BSA) and body mass index (BMI) with risk of atrial fibrillation. METHODS: In a cohort covering 1,153,151 18-years old men participating in the Swedish military conscription (1972-1995) Cox regression was used to investigate associations of height, weight, BSA and BMI with risk of atrial fibrillation...
November 27, 2017: Journal of Internal Medicine
https://www.readbyqxmd.com/read/29159996/demographic-characteristics-of-teenage-boys-with-horizontal-striae-distensae-of-the-lower-back
#5
Emily Boozalis, Anna L Grossberg, Katherine B Puttgen, Candrice R Heath, Bernard A Cohen
BACKGROUND: This study examines the clinical characteristics and demographics of teenage boys with horizontal striae distensae of the lower back in an outpatient setting. METHODS: Retrospective medical chart reviews and telephone survey studies were completed on an outpatient cohort of 12 boys 11 to 17 years of age with a clinical diagnosis of transverse striae distensae of the lower back at a single-center, university-based, pediatric dermatology practice. We evaluated the clinical features of the striae, participant demographic characteristics, and past medical history...
November 21, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29101757/supine-ultrasound-guided-percutaneous-nephrolithotomy-with-retrograde-semi-rigid-ureteroscopic-guidwire-retrieval-description-of-an-evolved-technique
#6
Mahziar Khazaali, Dinyar Khazaeli, Hayat Moombeini, Jamal Jafari-Samim
PURPOSE: Ultrasound-guided PCNL in Galdakao-modified supine Valdivia (GMSV) position has taken into consideration during the last decade; however, guidewire slippage during tract dilatation is still a big concern in this approach. Here we presented our results of combination of this modification with ureteroscopic guidewire retrieval to ensure a safe and confident renal access. MATERIALS AND METHODS: From June 2015 to March 2016, 30 consecutive patients with renal stone of ? 2...
November 4, 2017: Urology Journal
https://www.readbyqxmd.com/read/29094466/joint-effects-of-prothrombotic-genotypes-and-body-height-on-the-risk-of-venous-thromboembolism-the-troms%C3%A3-study
#7
Lars D Horvei, Sigrid K Braekkan, Erin N Smith, Terry Solomon, Kristian Hindberg, Kelly A Frazer, Frits R Rosendaal, John-Bjarne Hansen
BACKGROUND: Studies have reported synergistic effects of prothrombotic single nucleotide polymorphisms (SNPs) and obesity on the risk of venous thromboembolism (VTE). Tall stature is associated with increased VTE risk, but the joint effect of prothrombotic genotypes and tall stature on VTE risk is unknown. AIMS: To investigate the joint effects of prothrombotic genotypes and tall stature on the risk of VTE. METHODS: Cases with incident VTE (n=676) and a randomly selected age-weighted subcohort (n=1842) were sampled from the Tromsø study (cohort follow-up: 1994-2012)...
November 2, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29046014/tomato-cry1a-plays-a-critical-role-in-the-regulation-of-phytohormone-homeostasis-plant-development-and-carotenoid-metabolism-in-fruits
#8
Chao-Chao Liu, Golam Jalal Ahammed, Guo-Ting Wang, Chang-Jie Xu, Kun-Song Chen, Yan-Hong Zhou, Jing-Quan Yu
Blue light photoreceptors, cryptochromes (CRYs), regulate multiple aspects of plant growth and development. However, our knowledge of CRYs is predominantly based on model plant Arabidopsis at early growth stage. In this study, we elucidated functions of CRY1a gene in mature tomato (Solanum lycopersicum) plants by using cry1a mutants and CRY1a overexpressing lines (OE-CRY1a-1 and OE-CRY1a-2). In comparison with wild-type plants, cry1a mutants are relatively tall, accumulate low biomass and bear more fruits, whereas OE-CRY1a plants are short stature, and they not only flower lately but also bear less fruits...
October 18, 2017: Plant, Cell & Environment
https://www.readbyqxmd.com/read/29030385/long-term-follow-up-after-bilateral-percutaneous-epiphysiodesis-around-the-knee-to-reduce-excessive-predicted-final-height
#9
Wesley J Goedegebuure, Frank Jonkers, Annemieke M Boot, Willie M Bakker-van Waarde, Vera van Tellingen, Minne Heeg, Roelof J Odink, Florens van Douveren, Arnold T Besselaar, Marieke C van der Steen
CONTEXT: Percutaneous epiphysiodesis (PE) around the knee to reduce predicted excessive final height. Studies until now included small numbers of patients and short follow-up periods. OBJECTIVE AND DESIGN: This Dutch multicentre, long-term, retrospective, follow-up study aimed to assess adult height (AH), complications, knee function and patient satisfaction after PE. The primary hypothesis was that PE around the knee in constitutionally tall boys and girls is an effective treatment for reducing final height with low complication rates and a high level of patient satisfaction...
October 13, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28957340/body-habitus-in-patients-with-and-without-bronchiectasis-and-non-tuberculous-mycobacteria
#10
Michael D Schweitzer, Oriana Salamo, Michael Campos, Dean E Schraufnagel, Ruxana Sadikot, Mehdi Mirsaeidi
BACKGROUND: Female gender, tall stature, presence of bronchiectasis are associated with pulmonary nontuberculous mycobacterial (NTM) infections. The biologic relationship between the body habitus and NTM infection is not well defined and the body habitus profile of the patients with NTM and concurrent bronchiectasis is completely unknown. METHODS: We conducted a case control study at the Miami VA Healthcare System and the University of Illinois Medical Center on patients with pulmonary NTM infections between 2010 and 2015...
2017: PloS One
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
#11
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...
October 26, 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
#12
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...
November 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28898651/from-early-farmers-to-norman-borlaug-the-making-of-modern-wheat
#13
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
#14
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
#15
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
#16
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
#17
Yi Zhang, Shaobing Lin, Qun Fang
No abstract text is available yet for this article.
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
#18
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
#19
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-fitness-in-relation-to-risk-of-atrial-fibrillation
#20
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
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