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https://www.readbyqxmd.com/read/29777468/van-wyk-grumbach-syndrome-a-rare-consequence-of-hypothyroidism
#1
Pavan Reddy, Kritika Tiwari, Abhishek Kulkarni, Ketan Parikh, Raju Khubchandani
Long standing hypothyroidism presenting as an ovarian mass has been well described in literature as the Van Wyk Grumbach syndrome (hypothyroidism, isosexual precocious puberty and ovarian mass). Here, authors report this entity in a 11 y 7 mo old girl child who was referred to a surgeon in view of intestinal obstruction along with a multiloculated ovarian cyst. On evaluation, she was found to have raised serum creatinine, short stature, delayed bone age and pituitary enlargement. She was diagnosed with autoimmune thyroiditis and was started on replacement therapy with thyroxine, after which the ovarian cysts regressed...
May 19, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29776327/utility-of-whole-genome-sequence-data-for-across-breed-genomic-prediction
#2
Biaty Raymond, Aniek C Bouwman, Chris Schrooten, Jeanine Houwing-Duistermaat, Roel F Veerkamp
BACKGROUND: Genomic prediction (GP) across breeds has so far resulted in low accuracies of the predicted genomic breeding values. Our objective was to evaluate whether using whole-genome sequence (WGS) instead of low-density markers can improve GP across breeds, especially when markers are pre-selected from a genome-wide association study (GWAS), and to test our hypothesis that many non-causal markers in WGS data have a diluting effect on accuracy of across-breed prediction. METHODS: Estimated breeding values for stature and bovine high-density (HD) genotypes were available for 595 Jersey bulls from New Zealand, 957 Holstein bulls from New Zealand and 5553 Holstein bulls from the Netherlands...
May 18, 2018: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/29775918/determining-gender-by-taking-measurements-from-magnetic-resonance-images-of-the-patella
#3
Hacer Yasar Teke, Özge Ünlütürk, Elif Günaydin, Semra Duran, Sait Özsoy
BACKGROUND: A key step in making a positive identification in forensic medicine is the establishment of a biological profile, which involves determining factors such as gender, age, ancestry, and stature. The goal of this study was to determine if gender could be established by taking various measurements of the patella taken from magnetic resonance imaging (MRI) images and analyzing the variations by gender. METHODS: The sample group consisted of 220 patients (110 male and 110 female) whose patella were measured using MRI images of their left knee...
May 8, 2018: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/29773725/high-altitude-may-have-driven-short-stature-in-peruvians
#4
Elizabeth Pennisi
No abstract text is available yet for this article.
May 18, 2018: Science
https://www.readbyqxmd.com/read/29769820/multivariate-relationships-among-morphology-fitness-and-motor-coordination-in-prepubertal-girls
#5
Leonardo G O Luz, Manuel J Coelho-E-Silva, João P Duarte, João Valente-Dos-Santos, Aristides Machado-Rodrigues, André Seabra, Bruno C M Carmo, Roel Vaeyens, Renaat M Philippaerts, Sean P Cumming, Robert M Malina
Motor coordination and physical fitness are multidimensional concepts which cannot be reduced to a single variable. This study evaluated multivariate relationships among morphology, physical fitness and motor coordination in 74 pre-pubertal girls 8.0-8.9 years of age. Data included body dimensions, eight fitness items and four motor coordination tasks (KTK battery). Maturity status was estimated as percentage of predicted mature stature attained at the time of observation. Canonical correlation analysis was used to examine the relationships between multivariate domains...
June 2018: Journal of Sports Science & Medicine
https://www.readbyqxmd.com/read/29769040/novel-aggrecan-variant-p-gln2364pro-causes-severe-familial-nonsyndromic-adult-short-stature-and-poor-growth-hormone-response-in-chinese-children
#6
Dandan Xu, Chengjun Sun, Zeyi Zhou, Bingbing Wu, Lin Yang, Zhuo Chang, Miaoying Zhang, Li Xi, Ruoqian Cheng, Jinwen Ni, Feihong Luo
BACKGROUND: Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneous clinical phenotypes), impaired bone maturation, and large variations in response to growth hormone (GH) treatment. For such cases, long-term longitudinal therapy data from China are still scarce. We report that a previously unknown ACAN gene variant reduces adult height and we analyze the GH response in children from an affected large Chinese family. METHODS: Two children initially diagnosed with idiopathic short stature (ISS) and a third mildly short child from a large Chinese family presented with poor GH response...
May 16, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29768519/influence-of-growth-hormone-replacement-on-neurological-and-psychomotor-development-case-report
#7
Felipe Motta, Adriana Pasmanik Eisencraft, Lindiane Gomes Crisostomo
The height response to the use of growth hormone in short height cases has already been confirmed in the literature. The influence of the insulin-like growth factor 1 (GH-IGF1) axis components on development, function, regeneration, neuroprotection, cognition, and motor functions has been evaluated in experimental studies and in adults with central nervous system lesions. However, there is still little research on the clinical impact of hormone replacement on neurological and psychomotor development. This report presents the case of a patient with excellent weight-height recovery and, even more surprisingly, neurological and psychomotor development in response to use of growth hormone...
May 14, 2018: Einstein
https://www.readbyqxmd.com/read/29767474/mesenchymal-stromal-cells-from-shwachman-diamond-syndrome-patients-fail-to-recreate-a-bone-marrow-niche-in-vivo-and-exhibit-impaired-angiogenesis
#8
Donatella Bardelli, Erica Dander, Cristina Bugarin, Claudia Cappuzzello, Alice Pievani, Grazia Fazio, Paolo Pierani, Paola Corti, Piero Farruggia, Carlo Dufour, Simone Cesaro, Marco Cipolli, Andrea Biondi, Giovanna D'Amico
Shwachman-Diamond syndrome (SDS) is a rare multi-organ recessive disease mainly characterised by pancreatic insufficiency, skeletal defects, short stature and bone marrow failure (BMF). As in many other BMF syndromes, SDS patients are predisposed to develop a number of haematopoietic malignancies, particularly myelodysplastic syndrome and acute myeloid leukaemia. However, the mechanism of cancer predisposition in SDS patients is only partially understood. In light of the emerging role of mesenchymal stromal cells (MSCs) in the regulation of bone marrow homeostasis, we assessed the ability of MSCs derived from SDS patients (SDS-MSCs) to recreate a functional bone marrow niche, taking advantage of a murine heterotopic MSC transplant model...
May 16, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29766946/department-of-neurosurgery-madurai-medical-college-and-the-development-of-neurosurgery-in-south-tamil-nadu
#9
Subbiah Thiruppathy, Ramiah Manimaran, Gopalakrishnan M Niban, Natarajan Muthukumar
The development of neurosurgery in South Tamil Nadu can be traced to the Department of Neurosurgery, Madurai Medical College and Government Rajaji Hospital, Madurai, Tamil Nadu, India. The hospital was established in the year 1940 and Madurai Medical College was started in 1954. Prof. M. Natarajan founded this department in September, 1963. This department has a Neurosurgery Residency Program that is 50 years old. The establishment of this department and its growth to its present stature is documented here.
May 2018: Neurology India
https://www.readbyqxmd.com/read/29765487/an-analysis-of-pediatric-scar-progression-over-time
#10
Blaire Slavin, Roberta Torres, Anne C Fischer
Objective: The advances in surgical approaches for a pyloromyotomy have all focused on creating smaller incisions from a right upper quadrant now to a laparoscopic umbilical incision. A key assumption is that the final scar retains the size of the original incision as the child matures. Our case reports on a family with several members, now adults, with the same surgery and same surgeon who had the right upper quadrant incision as infants to elucidate the extent of how infantile scars grow over time, significantly exceeding the original incision...
2018: Eplasty
https://www.readbyqxmd.com/read/29761686/etiology-and-patterns-of-presentation-of-short-stature-in-eastern-cape-of-south-africa
#11
Chukwuma Ekpebegh
No abstract text is available yet for this article.
June 2018: Minerva Endocrinologica
https://www.readbyqxmd.com/read/29760778/loss-of-dmrt1-gene-in-a-mos-45-xy-9-8-46-xy-r-9-29-47-xy-idic-r-9-%C3%A3-2-1-46-xy-idic-r-9-1-46-xy-1-female-presenting-with-short-stature
#12
Bagas A Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R L Batubara, Alida R Harahap, Nanis S Marzuki
Background: A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. Case presentation: This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29760546/thiopurines-are-negatively-associated-with-anthropometric-parameters-in-pediatric-crohn-s-disease
#13
Neera Gupta, Robert H Lustig, Cewin Chao, Eric Vittinghoff, Howard Andrews, Cheng-Shiun Leu
AIM: To determine the distribution of anthropometric parameter (AP)- z -scores and characterize associations between medications/serum biomarkers and AP- z -scores in pediatric Crohn's disease (CD). METHODS: CD patients [< chronological age (CA) 21 years] were enrolled in a cross-sectional study. Descriptive statistics were generated for participants' demographic characteristics and key variables of interest. Paired t -tests were used to compare AP- z -scores calculated based on CA (CA z -scores) and bone age (BA) (BA z -scores) for interpretation of AP's...
May 14, 2018: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29760432/microcephaly-short-stature-and-limb-abnormality-disorder-due-to-novel-autosomal-biallelic-donson-mutations-in-two-german-siblings
#14
Solveig Schulz, Martin A Mensah, Heike de Vries, Rosemarie Fröber, Bernd Romeike, Uwe Schneider, Stephan Borte, Detlev Schindler, Karim Kentouche
Recently, variants in DONSON have been reported to cause different disorders of the microcephalic primordial dwarfism spectrum. Using whole-exome sequencing, we identified two novel, compound heterozygous DONSON variants in a pair of siblings, one of whom was previously diagnosed with Fanconi anemia. This occurred because the present cases exhibited clinical findings in addition to those of the microcephalic primordial dwarfism disorder, including severe limb malformations. These findings suggest that the DONSON and Fanconi anemia proteins could have supplementary roles in developmental processes as they have in the maintenance of genomic integrity, resulting in related disease phenotypes...
May 14, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29759686/molecular-mechanisms-governing-embryonic-differentiation-of-pituitary-somatotropes
#15
REVIEW
Buffy S Ellsworth, Caitlin E Stallings
Pituitary somatotropes secrete growth hormone (GH), which is essential for normal growth and metabolism. Somatotrope defects result in GH deficiency (GHD), leading to short stature in childhood and increased cardiovascular morbidity and mortality in adulthood. Current hormone replacement therapies fail to recapitulate normal pulsatile GH secretion. Stem cell therapies could overcome this problem but are dependent on a thorough understanding of somatotrope differentiation. Although several transcription factors, signaling pathways, and hormones that regulate this process have been identified, the mechanisms of action are not well understood...
May 11, 2018: Trends in Endocrinology and Metabolism: TEM
https://www.readbyqxmd.com/read/29758562/clinical-relevance-of-systematic-phenotyping-and-exome-sequencing-in-patients-with-short-stature
#16
Nadine N Hauer, Bernt Popp, Eva Schoeller, Sarah Schuhmann, Karen E Heath, Alfonso Hisado-Oliva, Patricia Klinger, Cornelia Kraus, Udo Trautmann, Martin Zenker, Christiane Zweier, Antje Wiesener, Rami Abou Jamra, Erdmute Kunstmann, Dagmar Wieczorek, Steffen Uebe, Fulvia Ferrazzi, Christian Büttner, Arif B Ekici, Anita Rauch, Heinrich Sticht, Helmuth-Günther Dörr, André Reis, Christian T Thiel
PurposeShort stature is a common condition of great concern to patients and their families. Mostly genetic in origin, the underlying cause often remains elusive due to clinical and genetic heterogeneity.MethodsWe systematically phenotyped 565 patients where common nongenetic causes of short stature were excluded, selected 200 representative patients for whole-exome sequencing, and analyzed the identified variants for pathogenicity and the affected genes regarding their functional relevance for growth.ResultsBy standard targeted diagnostic and phenotype assessment, we identified a known disease cause in only 13...
October 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29758347/gene-analysis-a-rare-gene-disease-of-intellectual-deficiency-cohen-syndrome
#17
Chengqing Yang, Mei Hou, Yutang Li, Dianrong Sun, Ya Guo, Peipei Liu, Yedan Liu, Jie Song, Na Zhang, Wei Wei, Zongbo Chen
Cohen syndrome is a rare, genetic, connective-tissue disorder, which is caused by mutations in the gene COH1 (VPS13B, Vacuolar Protein Sorting 13 Homolog B) at the chromosome 8q22. The disease is rare reported, which major clinical features include postnatal microcephaly, obesity, short stature, intellectual disability, progressive retinal dystrophy, intermittent neutropenia and many other unusual facial feature. We report four patients in China who were diagnosed with Cohen syndrome by genetic testing and clinical manifestations...
May 11, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29758292/novel-truncating-ppm1d-mutation-in-a-patient-with-intellectual-disability
#18
Joseph Porrmann, Andreas Rump, Karl Hackmann, Nataliya Di Donato, Anne-Karin Kahlert, Johannes Wagner, Arne Jahn, Ines Eger, Monika Flury, Evelin Schrock, Andreas Tzschach, Laura Gieldon
Truncating mutations in the last and penultimate exons of the PPM1D gene were recently described as a cause for mild to severe intellectual disability in fourteen patients. Feeding difficulties, periods of fever and vomiting as well as a high pain threshold were described as additional characteristic features and the disorder was subsequently termed "intellectual developmental disorder with gastrointestinal difficulties and high pain threshold (IDDGIP)" in the OMIM database (MIM # 617450). Here we report on an additional patient carrying a novel de novo truncating mutation NM_003620...
May 11, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29757050/longitudinal-changes-in-body-composition-assessed-using-dxa-and-surface-anthropometry-show-good-agreement-in-elite-rugby-union-athletes
#19
Adam J Zemski, Shelley E Keating, Elizabeth M Broad, Gary J Slater
Rugby union athletes have divergent body composition based on the demands of their on-field playing position and ethnicity. With an established association between physique traits and positional requirements, body composition assessment is routinely undertaken. Surface anthropometry and dual-energy X-ray absorptiometry (DXA) are the most common assessment techniques utilised, often undertaken synchronously. This study aims to investigate the association between DXA and surface anthropometry when assessing longitudinal changes in fat free mass (FFM) and fat mass (FM) in rugby union athletes...
May 14, 2018: International Journal of Sport Nutrition and Exercise Metabolism
https://www.readbyqxmd.com/read/29754743/the-effect-of-ontogeny-on-estimates-of-knm-wt-15000-s-adult-body-size
#20
Deborah L Cunningham, Ronda R Graves, Daniel J Wescott, Robert C McCarthy
The Homo erectus specimen KNM-WT 15000 has played a critical role in our understanding of body size evolution. New interpretations suggest that KNM-WT 15000 had a younger age-at-death and a more rapid ontogenetic trajectory than previously suggested. Recent fossil discoveries and new interpretations suggest a wide range of body size and shape variation in H. erectus. Based on these new insights, we argue that KNM-WT 15000's adult stature and body mass could have been much smaller than has been traditionally presented in the literature...
May 10, 2018: Journal of Human Evolution
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