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https://www.readbyqxmd.com/read/29737001/clinical-and-functional-characterization-of-two-novel-zbtb20-mutations-causing-primrose-syndrome
#1
Emilia Stellacci, Katharina Steindl, Pascal Joset, Laura Mercurio, Massimiliano Anselmi, Serena Cecchetti, Laura Gogoll, Markus Zweier, Annette Hackenberg, Gianfranco Bocchinfuso, Lorenzo Stella, Marco Tartaglia, Anita Rauch
Primrose syndrome (PS) is a rare disorder characterized by macrocephaly, tall stature, intellectual disability, autistic traits, and disturbances of glucose metabolism with insulin-resistant diabetes and distal muscle wasting occurring in adulthood. The disorder is caused by functional dysregulation of ZBTB20, a transcriptional repressor controlling energetic metabolism and developmental programs. ZBTB20 maps in a genomic region that is deleted in the 3q13.31 microdeletion syndrome, which explains the clinical overlap between the two disorders...
May 7, 2018: Human Mutation
https://www.readbyqxmd.com/read/29698483/magnitude-and-determinants-of-inadequate-third-trimester-weight-gain-in-rural-bangladesh
#2
S M Tafsir Hasan, Sabuktagin Rahman, Lindsey Mina Locks, Mizanur Rahman, Samar Kumar Hore, Kazi Nazmus Saqeeb, Md Alfazal Khan, Tahmeed Ahmed
OBJECTIVES: The objective of this study was to estimate the magnitude and determinants of inadequate weight gain in the third-trimester among rural women in Matlab, Bangladesh. METHODS: The study analyzed data on weight gain in the third trimester in 1,883 pregnant women in Matlab, Bangladesh. All these women were admitted to Matlab hospital of the International Centre for Diarrhoeal Disease Research, Bangladesh (icddr,b) for childbirth during 2012-2014, and they had singleton live births at term...
2018: PloS One
https://www.readbyqxmd.com/read/29690976/berardinelli-seip-congenital-generalised-lipodystrophy
#3
Huma Arshad Cheema, Hassan Suleman Malik, Nadia Waheed, Iqra Mushtaq, Zafar Fayyaz, Mohammad Nadeem Anjum
Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is a rare genetic disorder caused by dysregulation of glycemic and lipid metabolism. We report five BSCL cases with typical clinical pictures and complications. These, to the best of our knowledge, represent the first case series from Pakistan. BSCL is characterized by marked atrophy of adipose tissue, acromegaly, acanthosis nigricans and tall stature. We could not perform genetics studies in any patient owing to non-availability of genetic laboratory in Pakistan...
May 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29683020/premature-ovarian-failure-short-stature-and-hashimoto-s-disease-in-an-18-year-old-adolescent-girl-with-46-x-i-x-q10
#4
Xiang Hu, Qiao Zhang, Feng Gao, Lu-Lu Chen
Premature ovarian failure (POF) is a heterogeneous condition affecting girls and women. We detected a previously healthy 18-year-old adolescent girl, presented with amenorrhea over six months, as well as circulating levels of estradiol lower decreased and follicle-stimulating hormone (FSH) increased. She was 138 cm tall. Results of laboratory tests and/or ultrasound investigations showed 46, X, i(X)(q10) karyotype and Hashimoto's disease. This case suggests that pubertal onset and progression, as well as karyotype analysis, should be evaluated in girls with Hashimoto's disease and short stature...
April 22, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29680294/klinefelter-syndrome-the-effects-of-early-androgen-therapy-on-competence-and-behavioral-phenotype
#5
REVIEW
Ryan Flannigan, Premal Patel, Darius A Paduch
INTRODUCTION: Klinefelter syndrome (KS) is the result of sex chromosome aneuploidy most often characterized as 47,XXY. The typical features of KS include tall stature, gynecomastia, small firm testicles, hypergonadotropic hypogonadism, and infertility. However, abnormalities in neurodevelopment, cognition, and social and behavioral functioning also can be present. The abnormalities in neurodevelopment are believed to be due in part to androgen deficiency during early development and puberty...
April 18, 2018: Sexual Medicine Reviews
https://www.readbyqxmd.com/read/29668008/the-secular-trend-and-network-effects-on-height-of-male-japanese-students-from-1955-to-2015
#6
Dominik Bents, Detlef Groth, Takashi Satake
Introduction : Body height is influenced by biological factors such as genetics, nutrition and health, but also by the social network, and environmental and economical factors. During centuries, the Japanese society has developed on islands. This setting provides ideal natural conditions for studying the influence of social networks on human height. Material and methods : We investigated body height of male Japanese students aged 17.5 years obtained in 47 prefectures, from the Japanese school health survey of the years 1955, 1975, 1995, and 2015...
April 18, 2018: Anthropologischer Anzeiger; Bericht über die Biologisch-anthropologische Literatur
https://www.readbyqxmd.com/read/29593854/expansive-reed-populations-alien-invasion-or-disturbed-wetlands
#7
Kim Canavan, Iain D Paterson, Carla Lambertini, Martin P Hill
The tall-statured grasses in the genus Phragmites are dominant vegetation in wetlands worldwide and thus play a vital role in ecosystem functioning. As a result, Phragmites spp. are some of the most widely studied plants; particularly in areas where changes to their abundances have occurred, most notably in Europe and North America. In southern Africa a pattern of reed expansion has occurred in recent decades that has shown a similar trend to cryptic invasions reported in North America. This study used molecular techniques to explore the phylogeography of P...
March 2018: AoB Plants
https://www.readbyqxmd.com/read/29487687/possible-mechanism-underlying-the-association-between-height-and-vascular-remodeling-in-elderly-japanese-men
#8
Yuji Shimizu, Shimpei Sato, Jun Koyamatsu, Hirotomo Yamanashi, Mako Nagayoshi, Koichiro Kadota, Shin-Ya Kawashiri, Takahiro Maeda
Height is reported to be inversely associated with cardiovascular disease. And platelets play an important role in vascular remodeling by supporting CD34-positive cells. To clarify the association between height and platelet, we conducted a cross-sectional study of 219 elderly Japanese men. Since hemoglobin concentration is influenced by vascular remodeling activity, an analysis stratified by hemoglobin level was performed. An inverse association was seen between height and platelet count in subjects with a high hemoglobin concentration (≥ 14...
January 30, 2018: Oncotarget
https://www.readbyqxmd.com/read/29464228/growth-disorders-in-adolescents
#9
Tashunka Taylor-Miller, Peter J Simm
BACKGROUND: Growth is one of the fundamental processes of adolescent development. Careful history and examination, and relevant tar-geted investigations, can streamline the referral process, highlighting the important role of primary healthcare clinicians. OBJECTIVE: This article will provide a guide for clinicians to categorise growth patterns in adolescents, and recognise patients who may have a growth disorder. It will assist clinicians in considering appropriate investigations, and provide guidance for when to refer the adolescent to appropriate paediatric specialists...
December 2017: Australian Family Physician
https://www.readbyqxmd.com/read/29455159/a-case-of-paternal-uniparental-isodisomy-for-chromosome-7-associated-with-overgrowth
#10
Akie Nakamura, Koji Muroya, Hiroko Ogata-Kawata, Kazuhiko Nakabayashi, Keiko Matsubara, Tsutomu Ogata, Kenji Kurosawa, Maki Fukami, Masayo Kagami
BACKGROUND: Paternal uniparental disomy for chromosome 7 (upd(7)pat) is extremely rare, and only four cases have been previously reported. As these cases were accompanied by autosomal-recessive disorders which are likely to be involved in growth restriction, the relevance of upd(7)pat to the overgrowth phenotype remains unclear. Here we describe one case of upd(7)pat with no additional genetic diseases, which may answer the question. METHODS: A 5-year-old Japanese boy presented with a tall stature of unknown causes...
February 17, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29408912/effect-of-maternal-height-on-caesarean-section-and-neonatal-mortality-rates-in-sub-saharan-africa-an-analysis-of-34-national-datasets
#11
Esther Arendt, Neha S Singh, Oona M R Campbell
RATIONALE: The lifecycle perspective reminds us that the roots of adult ill-health may start in-utero or in early childhood. Nutritional and infectious disease insults in early life, the critical first 1000 days, are associated with stunting in childhood, and subsequent short adult stature. There is limited or no opportunity for stunted children above 2 years of age to experience catch-up growth. Some previous research has shown short maternal height to lead to adverse birth outcomes...
2018: PloS One
https://www.readbyqxmd.com/read/29408185/short-primiparous-women-are-at-an-increased-risk-for-gestational-diabetes-mellitus
#12
M K Laine, H Kautiainen, M Gissler, M Raina, I Aahos, K Järvinen, J G Eriksson
OBJECTIVES: Both short stature and adiposity are risk factors for gestational diabetes mellitus (GDM). The aim of this study was to simultaneously evaluate the importance of stature and degree of adiposity on development of GDM in primiparous women. STUDY DESIGN: Longitudinal cohort study. METHODS: In the city of Vantaa, Finland, between 2009 and 2015, all together 7750 primiparous women without previously diagnosed diabetes mellitus gave birth...
March 2018: Public Health
https://www.readbyqxmd.com/read/29397244/cataract-in-a-patient-with-47-xyy-sex-chromosome-aneuploidy
#13
A Medina-Andrade, C Villanueva-Mendoza, S Arenas, V Cortés-González
CASE REPORT: The case concerns a 16 year-old boy with a history of high myopia and unilateral congenital cataract, tall stature for age, facial dysmorphism, hypermobile metacarpal-phalangeal joints, as well as behavioural problems. The mother had a history of recurrent pregnancy loss. Chromosomal analysis of the peripheral blood lymphocytes reported 47,XYY. DISCUSSION: Patients with sex chromosome aneuploidy 47,XYY have higher risk of congenital malformations, although ophthalmological anomalies are unusual...
January 31, 2018: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/29395883/-investigation-of-tall-stature-in-children-diagnostic-work-up-review-of-the-main-causes
#14
J Vergier, E Marquant, T Busa, R Reynaud
Tall stature is not a common motive for medical consultation, even though by definition 2.5 % of children in the general population are concerned. It is usually defined as height greater than+2 standard deviations (SD) using the appropriate growth chart for age and gender, or a difference greater than +2 SD between actual height and target height. With a patient presenting tall stature, the physician has to determine whether it is a benign feature or a disease. Indeed, making the diagnosis is essential for hormonal disease or genetic overgrowth syndromes...
February 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29390353/associations-between-height-and-blood-pressure-in-the-united-states-population
#15
Brianna Bourgeois, Krista Watts, Diana M Thomas, Owen Carmichael, Frank B Hu, Moonseong Heo, John E Hall, Steven B Heymsfield
The mechanisms linking short stature with an increase in cardiovascular and cerebrovascular disease risk remain elusive. This study tested the hypothesis that significant associations are present between height and blood pressure in a representative sample of the US adult population.Participants were 12,988 men and women from a multiethnic sample (age ≥ 18 years) evaluated in the 1999 to 2006 National Health and Nutrition Examination Survey who were not taking antihypertensive medications and who had complete height, weight, % body fat, and systolic and diastolic arterial blood pressure (SBP and DBP) measurements; mean arterial blood pressure and pulse pressure (MBP and PP) were calculated...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29387899/qtl-seq-based-genetic-analysis-identifies-a-major-genomic-region-governing-dwarfness-in-rice-oryza-sativa-l
#16
Gopalakrishnamurty Kadambari, Lakshminarayana R Vemireddy, Akkareddy Srividhya, Ranjithkumar Nagireddy, Siddhartha Swarup Jena, Mahendranath Gandikota, Santosh Patil, Roja Veeraghattapu, D A K Deborah, G Eswar Reddy, Maliha Shake, Aleena Dasari, P V Ramanarao, Ch V Durgarani, C N Neeraja, E A Siddiq, Maganti Sheshumadhav
A major dwarfing region for plant height, asd1, was identified employing the next-generation sequencing-based QTL-Seq approach from a dwarf mutant and is demonstrated to be responsible for the dwarf nature with least penalty on yield in rice. The yield plateauing of modern rice is witnessed since many decades due to the narrow genetic base owing to the usage of a single recessive gene, i.e., semi-dwarf-1 (sd-1) for development of short-statured varieties throughout the world. This calls for the searching of alternate sources for short stature in rice...
April 2018: Plant Cell Reports
https://www.readbyqxmd.com/read/29375860/rare-48-xyyy-syndrome-case-report-and-review-of-the-literature
#17
Maryam Abedi, Arash Salmaninejad, Ebrahim Sakhinia
48, XYYY syndrome is a rare condition. A male with 32-year-old and three Y chromosomes is described. This syndrome is phenotypically similar to Klinefelter syndrome. In this patient, Semi-Klinefelter characteristics such as tall stature, teeth dysmorphology, long length of fingers, partial deformity of the joints, likewise mental health problems were obvious.
January 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29333085/next-generation-sequencing-expression-profiling-of-mitochondrial-subunits-in-men-with-klinefelter-syndrome
#18
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
#19
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...
March 2018: 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
#20
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
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