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https://www.readbyqxmd.com/read/28236628/resting-energy-expenditure-in-girls-with-turner-syndrome
#1
Gerhard Binder, Laura Frank, Julian Ziegler, Gunnar Blumenstock, Roland Schweizer
BACKGROUND: Knowledge concerning energy metabolism in Turner syndrome (TS) is lacking. We compared the resting energy expenditure per fat-free mass (REE/FFM) in TS with other girls with short stature treated with growth hormone (GH) and age-related controls. METHODS: We measured prospectively REE by spirometry under fasting conditions in the morning in 85 short prepubertal girls at the start of GH treatment. Diagnoses were TS (n=20), GH deficiency (GHD) (n=38) and small for gestational age (SGA) short stature (n=27)...
February 25, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28229453/chondrodysplasia-with-multiple-dislocations-comprehensive-study-of-a-series-of-30-cases
#2
E Ranza, C Huber, N Levin, G Baujat, C Bole-Feysot, P Nitschke, C Masson, Y Alanay, L Al-Gazali, P Bitoun, O Boute, P Campeau, C Coubes, M McEntagart, N Elcioglu, L Faivre, A Gezdirici, D Johnson, E Mihci, B G Nur, L Perrin, C Quelin, P Terhal, B Tuysuz, V Cormier-Daire
The group of chondrodysplasia with multiple dislocations includes several entities, characterized by short stature, dislocation of large joints, hand and/or vertebral anomalies. Other features, such as epiphyseal or metaphyseal changes, cleft palate, intellectual disability are also often part of the phenotype. In addition, several conditions with overlapping features are related to this group and broaden the spectrum. The majority of these disorders have been linked to pathogenic variants in genes encoding proteins implicated in the synthesis or sulfation of proteoglycans (PG)...
October 13, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/28228961/concurrent-van-der-woude-syndrome-and-turner-syndrome-a-case-report
#3
Evan Los, Hayley Baines, Ines Guttmann-Bauman
Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28224446/current-care-and-investigational-therapies-in-achondroplasia
#4
REVIEW
Sheila Unger, Luisa Bonafé, Elvire Gouze
PURPOSE OF REVIEW: The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe. RECENT FINDINGS: Despite several attempts to standardize care, there is still no widely accepted consensus. This is in part due to absence of concrete data on the incidence of sudden unexplained death in infants with achondroplasia and the best investigation for ascertaining which individuals could benefit from foramen magnum decompression surgery...
February 21, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28220303/estimation-of-stature-from-femur-length-measured-using-computed-tomography-after-the-analysis-of-three-dimensional-characteristics-of-femur-bone-in-korean-cadavers
#5
Sookyoung Lee, Ho-Hyeon Gong, Jin-Young Hyun, Hyung-Nam Koo, Han-Young Lee, Nak-Eun Chung, Young-Shik Choi, Kyung-Moo Yang, Byung Ha Choi
Estimation of stature is a basic and important forensic procedure in identifying decomposed or skeletonized bodies. Due to advances in radiologic equipment, forensic science frequently uses computed tomography (CT) and software to apply these findings to investigations. Technical developments have increased the accuracy of the measurement of various bones. However, there are still some inaccuracies, such as defining correct landmarks in three-dimensional (3D) images. Femur length is frequently used for calculation of stature, but because it is a 3D structure, the digital image may not always correlate with the femur length measured with an osteometric board...
February 20, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28214852/the-clinical-manifestation-and-genetic-evaluation-in-patients-with-45-x-46-xy-mosaicism
#6
Qinghua Wu, Cong Wang, Huirong Shi, Xiangdong Kong, Shumin Ren, Miao Jiang
45,X/46,XY mosaicism is a rare chromosomal abnormality and probably underdiagnosed. Although clinical and genetic analyses have been performed in some disorders of sexual development, there have been few studies focusing on the phenotype and genetic details of 45,X/46,XY mosaicism, especially in the Chinese population. The aim of this study was to describe the experience of our service in relation to 16 cases with 45,X/46,XY mosaicism. The age at the first evaluation of the patients ranged from 43 days to 30 years...
February 18, 2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28213670/emerging-genotype-phenotype-relationships-in-patients-with-large-nf1-deletions
#7
REVIEW
Hildegard Kehrer-Sawatzki, Victor-Felix Mautner, David N Cooper
The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germline type-1 NF1 microdeletions frequently exhibit dysmorphic facial features, overgrowth/tall-for-age stature, significant delay in cognitive development, large hands and feet, hyperflexibility of joints and muscular hypotonia...
February 17, 2017: Human Genetics
https://www.readbyqxmd.com/read/28211985/a-girl-with-developmental-delay-ataxia-cranial-nerve-palsies-severe-respiratory-problems-in-infancy-expanding-ndst1-syndrome
#8
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I Seath, Wyeth W Wasserman, Colin J Ross, Clara D M van Karnebeek
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia. seizures, and/or short stature, but none had history of respiratory problems. No humans with homozygous null mutations are known...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211980/constitutional-bone-impairment-in-noonan-syndrome
#9
Giuseppina Baldassarre, Alessandro Mussa, Diana Carli, Cristina Molinatto, Giovanni Battista Ferrero
Noonan syndrome (NS) is an autosomal dominant trait characterized by genotypic and phenotypic variability. It belongs to the Ras/MAPK pathway disorders collectively named Rasopathies or neurocardiofaciocutaneous syndromes. Phenotype is characterized by short stature, congenital heart defects, facial dysmorphisms, skeletal and ectodermal anomalies, cryptorchidism, mild to moderate developmental delay/learning disability, and tumor predisposition. Short stature and skeletal dysmorphisms are almost constant and several studies hypothesized a role for the RAS pathway in regulating bone metabolism...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211151/phenotypic-distribution-models-corroborate-species-distribution-models-a-shift-in-the-role-and-prevalence-of-a-dominant-prairie-grass-in-response-to-climate-change
#10
Adam B Smith, Jacob Alsdurf, Mary Knapp, Sara G Baer, Loretta C Johnson
Phenotypic variation within species can vary widely across environmental gradients but forecasts of species' responses to environmental change often assume species respond homogenously across their ranges. We compared predictions from species and phenotype distribution models under future climate scenarios for Andropogon gerardii, a widely distributed, dominant grass found throughout the central United States. Phenotype data on aboveground biomass, height, leaf width, and chlorophyll content were obtained from 33 populations spanning a ~1000-km gradient that encompassed the majority of the species' environmental range...
February 17, 2017: Global Change Biology
https://www.readbyqxmd.com/read/28209722/long-term-outcome-of-hematopoietic-stem-cell-transplantation-for-il2rg-jak3-scid-a-cohort-report
#11
Intan Juliana Abd Hamid, Mary A Slatter, Fiona McKendrick, Mark S Pearce, Andrew R Gennery
Hematopoietic stem cell transplantation (HSCT) cures the T-lymphocyte, B-lymphocyte and Natural Killer (NK) cell differentiation defect in IL2RG/JAK3 SCID. We evaluated long-term clinical features, longitudinal immunoreconstitution, donor chimerism and quality of life (QoL) of IL2RG/JAK3 SCID patients >2 years post-HSCT at our center. Clinical data were collated and patients/families answered PedsQL Generic Core Scale v4.0 questionnaires. We performed longitudinal analyses of CD3+, CD4+ naïve T-lymphocyte, CD19+ and NK cell numbers from pre-transplant until 15 years post-transplant...
February 16, 2017: Blood
https://www.readbyqxmd.com/read/28209000/carrea-s-index-and-tooth-dimensions-an-avant-garde-in-stature-estimation-an-observational-study
#12
Rayapureddy Sruthi, Reddy Sudhakara Reddy, Nallakunta Rajesh, Koneru Jyothirmai, Madgula Preethi, Thungala Navya Teja
INTRODUCTION: Identifying victims in case of mass disasters when only human remains are present is quite a challenging task. Although other peripheral extremities of human body are used in estimating stature, in situations where only skull is available, teeth play an important role in personal identification. The present study used Carrea's index in stature estimation using tooth dimensions. AIM: This study is intended to correlate the anterior mandibular tooth dimensions with that of real stature using Carrea's index and also to know the applicability and validity of this index to the current study population...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28207766/climate-change-across-seasons-experiment-ccase-a-new-method-for-simulating-future-climate-in-seasonally-snow-covered-ecosystems
#13
Pamela H Templer, Andrew B Reinmann, Rebecca Sanders-DeMott, Patrick O Sorensen, Stephanie M Juice, Francis Bowles, Laura E Sofen, Jamie L Harrison, Ian Halm, Lindsey Rustad, Mary E Martin, Nicholas Grant
Climate models project an increase in mean annual air temperatures and a reduction in the depth and duration of winter snowpack for many mid and high latitude and high elevation seasonally snow-covered ecosystems over the next century. The combined effects of these changes in climate will lead to warmer soils in the growing season and increased frequency of soil freeze-thaw cycles (FTCs) in winter due to the loss of a continuous, insulating snowpack. Previous experiments have warmed soils or removed snow via shoveling or with shelters to mimic projected declines in the winter snowpack...
2017: PloS One
https://www.readbyqxmd.com/read/28207416/are-aromatase-inhibitors-in-boys-with-predicted-short-stature-and-or-rapidly-advancing-bone-age-effective-and-safe
#14
Jessica A Ferris, Mitchell E Geffner
BACKGROUND: The aim of this study was to assess aromatase inhibitor (AI) efficacy in increasing predicted adult height (PAH) and to describe clinical and biochemical safety profiles of AI-treated boys. METHODS: A retrospective chart review was conducted at an academic children's hospital endocrinology clinic. Twenty-one boys with predicted short stature and/or rapidly advancing bone age, divided as Tanner stage (TS) I-III Group 1 (G1, n=9) and TS IV-V Group 2 (G2, n=12), were treated with AIs, either letrozole or anastrozole (mean duration, G1: 2...
February 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28205584/a-postnatal-role-for-embryonic-myosin-revealed-by-myh3-mutations-that-alter-tgf%C3%AE-signaling-and-cause-autosomal-dominant-spondylocarpotarsal-synostosis
#15
Jennifer Zieba, Wenjuan Zhang, Jessica X Chong, Kimberly N Forlenza, Jorge H Martin, Kelly Heard, Dorothy K Grange, Merlin G Butler, Tjitske Kleefstra, Ralph S Lachman, Deborah Nickerson, Michael Regnier, Daniel H Cohn, Michael Bamshad, Deborah Krakow
Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral, carpal and tarsal fusions, and mild short stature. The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutations in the gene that encodes the cytoskeletal protein filamin B (FLNB), but a subset do not have FLNB mutations. Exome sequence analysis of three SCT patients negative for FLNB mutations identified an autosomal dominant form of the disease due to heterozygosity for missense or nonsense mutations in MYH3, which encodes embryonic myosin...
February 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28205412/an-investigation-of-dimensional-scaling-using-cervical-spine-motion-segment-finite-element-models
#16
Dilaver Singh, Duane S Cronin
The paucity of experimental data for validating computational models of different statures underscores the need for appropriate scaling methods so that models can be verified and validated using experimental data. Scaling was investigated using 50(th) percentile male (M50) and 5(th) percentile female (F05) cervical spine motion segment (C4-C5) finite element models subject to tension, flexion and extension loading. Two approaches were undertaken: geometric scaling of the models to investigate size effects (volumetric scaling) and scaling of the force-displacement or moment-angle model results (data scaling)...
February 15, 2017: International Journal for Numerical Methods in Biomedical Engineering
https://www.readbyqxmd.com/read/28199894/height-and-blood-chemistry-in-adults-with-a-history-of-developmental-arsenic-poisoning-from-contaminated-milk-powder
#17
Takashi Yorifuji, Kenichi Matsuoka, Philippe Grandjean
BACKGROUND: Arsenic poisoning interferes with bone metabolism in laboratory animal studies, and human studies suggest lowered bone mass density at elevated exposures. As the long-term consequences of developmental arsenic toxicity are poorly known, we carried out a clinical pilot study of survivors of the mass arsenic poisoning of bottle-fed infants in Japan in 1955. OBJECTIVES: The purpose was to evaluate the association between developmental arsenic exposure and physical stature and routine blood chemistry reflecting major organ functions more than 50 years later...
February 11, 2017: Environmental Research
https://www.readbyqxmd.com/read/28199739/obesity-in-children-with-congenital-adrenal-hyperplasia-in-the-minnesota-cohort-importance-of-adjusting-body-mass-index-for-height-age
#18
Kyriakie Sarafoglou, Gregory P Forlenza, O Yaw Addo, Jennifer Kyllo, Aida Lteif, P C Hindmarsh, Anna Petryk, Maria Teresa Gonzalez-Bolanos, Bradley S Miller, William Thomas
OBJECTIVES: To evaluate obesity and overweight in children with congenital adrenal hyperplasia (CAH), and associations with glucocorticoids, fludrocortisone and disease control. Adjusting body mass index for-height-age (BMIHA ) percentile is proposed to correct misclassification of obese/overweight status in CAH children with advanced bone age and tall-for-age stature. DESIGN: Longitudinal. PATIENTS: 194 children with CAH seen from 1970-2013: 124 salt-wasting (SW); 70 simple-virilizing (SV); 102 females...
February 15, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28195935/allometric-grip-strength-norms-for-children-of-hawaiian-lineage
#19
Morgan H Kocher, Rebecca K Romine, Christopher D Stickley, Charles F Morgan, Portia B Resnick, Ronald K Hetzler
PURPOSE: To determine allometric exponents for scaling grip strength in children that effectively control for body mass and height and develop normative grip strength data for Hawaiian children. METHODS: 1,437 students (754 boys) from a rural community in Hawaii participated in this 5-year study, resulting in 2,567 data points. Handgrip strength, body mass (BM), stature (Ht) were collected every year. Multiple log-linear regression was used to determine allometric exponents for BM and Ht...
December 13, 2017: Journal of Strength and Conditioning Research
https://www.readbyqxmd.com/read/28192847/-gastroparesis-in-noonan-syndrome
#20
Konstantin G Heimrich, Falk Gühne, Solveig Schulz, Stephanie Mutschke, Andreas Stallmach, Jessica Rüddel
We present a case of a 26-year-old female patient with bloating, postprandial nausea and recurrent vomiting after solid food intake. A gastric emptying scintigraphy showed a delayed gastric emptying, defining gastroparesis. Because of her past medical history of short stature and pulmonary stenosis, we initiated genetic counseling where the diagnosis of Noonan syndrome was made. Dietary therapy and medication with domperidone quickly led to relief of the discomfort due to gastroparesis. However, prokinetics are not indicated for long-term therapy, as cardiac arrhythmia may occur...
February 2017: Zeitschrift Für Gastroenterologie
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