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Tall stature

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
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
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
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...
September 9, 2016: Anthropologischer Anzeiger; Bericht über die Biologisch-anthropologische Literatur
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
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
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
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
Johanna Schäfgen, Kirsten Cremer, Jessica Becker, Thomas Wieland, Alexander M Zink, Sarah Kim, Isabelle C Windheuser, Martina Kreiß, Stefan Aretz, Tim M Strom, Dagmar Wieczorek, Hartmut Engels
Recently, germline variants of the transcriptional co-regulator gene TCF20 have been implicated in the aetiology of autism spectrum disorders (ASD). However, the knowledge about the associated clinical picture remains fragmentary. In this study, two individuals with de novo TCF20 sequence variants were identified in a cohort of 313 individuals with intellectual disability of unknown aetiology, which was analysed by whole exome sequencing using a child-parent trio design. Both detected variants - one nonsense and one frameshift variant - were truncating...
July 20, 2016: European Journal of Human Genetics: EJHG
Emmie N Upners, Anders Juul
BACKGROUND: Reduction of adult height by sex steroid treatment was introduced decades ago in tall statured children, but controlled trials are lacking and treatment is controversial. In this study, we wanted to evaluate the phenotypic characteristics in girls referred due to tall stature and the effect of oral administration of 17β-estradiol on predicted adult height in girls. METHODS: A single-centre retrospective observational study of 304 girls evaluated consecutively due to tall stature between 1993 and 2013...
July 13, 2016: Pediatric Research
Vassos Neocleous, Christos Shammas, Marie M Phelan, Pavlos Fanis, Maria Pantelidou, Nicos Skordis, Christos Mantzoros, Leonidas A Phylactou, Meropi Toumba
OBJECTIVE: Heterozygous mutations on the melanocortin-4-receptor gene (MC4R) are the most frequent cause of monogenic obesity. We describe a novel MC4R deletion in a girl with severe early onset obesity, tall stature, pale skin and red hair. CASE REPORT: Clinical and hormonal parameters were evaluated in a girl born full-term by non-consanguineous parents. Her body mass index (BMI) at presentation (3 years) was 30 kg/m(2) (z-score: +4.5SDS). By the age of 5.2 years, she exhibited extreme linear growth acceleration and developed hyperinsulinemia...
July 11, 2016: Hormones: International Journal of Endocrinology and Metabolism
Christopher K Mehta, Bryan P Stanifer, Susan Fore-Kosterski, Colin Gillespie, Anjana Yeldandi, Shari Meyerson, David D Odell, Malcolm M DeCamp, Ankit Bharat
BACKGROUND: Primary spontaneous pneumothorax (PSP) is treated on the basis of studies that have predominantly consisted of tall male subjects. Here, we determined recurrence of PSP in average-statured menstruating women and studied prevalence of catamenial pneumothorax (CP) in this population. METHODS: Men and menstruating women, aged 18 to 55 years, without underlying lung disease or substance abuse were retrospectively studied between 2009 and 2015. A chest pathologist reviewed all specimens for thoracic endometriosis...
October 2016: Annals of Thoracic Surgery
Alrun Siebenkäs, Jens Schumacher, Christiane Roscher
Numerous experiments, mostly performed in particular environments, have shown positive diversity-productivity relationships. Although the complementary use of resources is discussed as an important mechanism explaining diversity effects, less is known about how resource availability controls the strength of diversity effects and how this response depends on the functional composition of plant communities. We studied aboveground biomass production in experimental monocultures, two- and four-species mixtures assembled from two independent pools of four perennial grassland species, each representing two functional groups (grasses, forbs) and two growth statures (small, tall), and exposed to different combinations of light and nutrient availability...
2016: PloS One
Camille Tlemsani, Armelle Luscan, Nicolas Leulliot, Eric Bieth, Alexandra Afenjar, Geneviève Baujat, Martine Doco-Fenzy, Alice Goldenberg, Didier Lacombe, Laetitia Lambert, Sylvie Odent, Jérôme Pasche, Sabine Sigaudy, Alexandre Buffet, Céline Violle-Poirsier, Audrey Briand-Suleau, Ingrid Laurendeau, Magali Chin, Pascale Saugier-Veber, Dominique Vidaud, Valérie Cormier-Daire, Michel Vidaud, Eric Pasmant, Lydie Burglen
BACKGROUND: Heterozygous NSD1 mutations were identified in 60%-90% of patients with Sotos syndrome. Recently, mutations of the SETD2 and DNMT3A genes were identified in patients exhibiting only some Sotos syndrome features. Both NSD1 and SETD2 genes encode epigenetic 'writer' proteins that catalyse methylation of histone 3 lysine 36 (H3K36me). The DNMT3A gene encodes an epigenetic 'reader' protein of the H3K36me chromatin mark. METHODS: We aimed at confirming the implication of DNMT3A and SETD2 mutations in an overgrowth phenotype, through a comprehensive targeted-next generation sequencing (NGS) screening in 210 well-phenotyped index cases with a Sotos-like phenotype and no NSD1 mutation, from a French cohort...
June 17, 2016: Journal of Medical Genetics
Jillian Casey, Allan Jenkinson, Alex Magee, Sean Ennis, Ahmad Monavari, Andrew Green, Sally A Lynch, Ellen Crushell, Joanne Hughes
We report a female child from an Irish Traveller family presenting with severe intellectual disability, dysmorphic features, renal anomalies, dental caries and cyclical vomiting. Current health issues include global developmental delay, mild concentric left ventricular hypertrophy, dental malocclusion and caries and a single duplex left kidney. The proband and her mother also have multiple epiphyseal dysplasia. Whole-exome sequencing was performed to identify the underlying genetic cause. DNA from the proband was enriched with the Agilent Sure Select v5 Exon array and sequenced on an Illumina HiSeq...
October 2016: Clinical Dysmorphology
R B Paisey, T Darby, A M George, M Waterson, P Hewson, C F Paisey, M P Thomson
OBJECTIVES: To prospectively determine clinical and biochemical characteristics associated with the development of peripheral neuropathy, loss of protective sensation, and foot ulceration in persons with type 2 diabetes mellitus (DM) over 7 years. RESEARCH DESIGN AND METHODS: Graded monofilament (MF) testing, vibration perception threshold, and neuropathy symptom questionnaires were undertaken in 206 participants with type 2 DM without peripheral vascular disease or history of foot ulceration and 71 healthy participants without DM at baseline and after 7 years...
2016: BMJ Open Diabetes Research & Care
Ha T Nguyen, Lucy R Hutyra, Brady S Hardiman, Steve M Raciti
Tropical peat swamp forests (PSF) are one of the most carbon dense ecosystems on the globe and are experiencing substantial natural and anthropogenic disturbances. In this study, we combined direct field sampling and airborne LiDAR to empirically quantify forest structure and aboveground live biomass (AGB) across a large, intact tropical peat dome in Northwestern Borneo. Moving up a 4 m elevational gradient, we observed increasing stem density but decreasing canopy height, crown area, and crown roughness. These findings were consistent with hypotheses that nutrient and hydrological dynamics co-influence forest structure and stature of the canopy individuals, leading to reduced productivity towards the dome interior...
March 2016: Ecological Applications: a Publication of the Ecological Society of America
Angelo Valetto, Veronica Bertini, Angela Michelucci, Benedetta Toschi, Eleonora Dati, Giampietro I Baroncelli, Silvano Bertelloni
Short stature homeobox gene (SHOX) mutations and pseudoautosomal region 1 (PAR1) deletions encompassing SHOX are known causes of Léri-Weill dyschondrosteosis and isolated short stature, while 3 copies of SHOX in cases with triple sex chromosome constitution are responsible for tall stature. Duplications involving SHOX have been rarely reported, and they were found in individuals with short, normal and tall stature. An adopted boy with short stature, isodicentric Y chromosome and 3 copies of SHOX is described...
April 2016: Molecular Syndromology
Krishan Sharma, Puneet Gupta, Shailza Shandilya
This research examines the ontogenic patterns of changes in growth during adolescence, pelvis variations and growth during twenties and thirties of age, structural remodeling of pelvis related to childbirth and relationship of pelvis area with physique based on the cross-sectional data on 391 females from the state of Haryana. Peak growth velocity for body height and breadths of skeletal traits occurred between 11 and 12 years, much before mean age of menarche at 13.5 years; while for body weight and body mass index (BMI) occurred between 14 and 15 years, after the mean age of menarche...
August 2016: Homo: Internationale Zeitschrift Für die Vergleichende Forschung Am Menschen
Swati Gupta, Somayyeh Fahiminiya, Tracy Wang, Laura Dempsey Nunez, David S Rosenblatt, William T Gibson, Brian Gilfix, John J M Bergeron, Loydie A Jerome-Majewska
Using whole-exome sequencing, we identified homozygous mutations in two unlinked genes, SEC23A c.1200G>C (p.M400I) and MAN1B1 c.1000C>T (p.R334C), associated with congenital birth defects in two patients from a consanguineous family. Patients presented with carbohydrate-deficient transferrin, tall stature, obesity, macrocephaly, and maloccluded teeth. The parents were healthy heterozygous carriers for both mutations and an unaffected sibling with tall stature carried the heterozygous mutation in SEC23A only...
May 2016: Cold Spring Harbor Molecular Case Studies
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