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https://www.readbyqxmd.com/read/28821782/rapid-dwarfing-of-an-insular-mammal-the-feral-cattle-of-amsterdam-island
#1
Roberto Rozzi, Mark V Lomolino
The island rule describes a graded trend in insular populations of vertebrates from gigantism in small species to dwarfism in large species. The dwarfing of large mammals on islands has been observed both in the present fauna and in the fossil record. Elephants, hippopotami, deer, and other species became dwarfed on islands scattered all over the world, from the Mediterranean Sea to Indonesia, from the Eastern to Western Pacific Ocean, from the Caribbean to Canary Islands. The most rapid and well documented cases of island dwarfing known thus far took place over thousands of years...
August 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28819598/two-staged-bilateral-femoral-alignment-osteotomy-with-concomitant-total-knee-arthroplasty-in-an-achondroplasia-patient-a-case-report
#2
Sebastian G Walter, Tobias Schwering, Stefan Preiss
INTRODUCTION: Achondroplasia is the most common form of dwarfism in humans and is orthopedically characterized by shortened extremities and an exaggerated lumbar lordosis. The surgical challenges are maintenance of axial alignment during limb lengthening as well as joint preservation and alignment restoration. CASE REPORT: We present a 46-year-old female suffering from achondroplasia with severe pain in both knees. Severe varus deformities of both femurs and degeneration of both knee joints became apparent on clinical and radiological examination...
March 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28789632/catalytic-and-functional-aspects-of-different-isozymes-of-glycolate-oxidase-in-rice
#3
Zhisheng Zhang, Xiangyang Li, Lili Cui, Shuan Meng, Nenghui Ye, Xinxiang Peng
BACKGROUND: Glycolate oxidase (GLO) is a key enzyme for photorespiration in plants. There are four GLO genes encoding and forming different isozymes in rice, but their functional differences are not well understood. In this study, enzymatic and physiological characteristics of the GLO isozymes were comparatively analyzed. RESULTS: When expressed heterologously in yeast, GLO1, GLO4 and GLO1 + 4 showed the highest activities and lowest K m for glycolate as substrate, whereas GLO3 displayed high activities and affinities for both glycolate and L-lactate, and GLO5 was catalytically inactive with all substrates tested...
August 8, 2017: BMC Plant Biology
https://www.readbyqxmd.com/read/28743979/expression-of-rmrp-rna-is-regulated-in-chondrocyte-hypertrophy-and-determines-chondrogenic-differentiation
#4
Mandy M F Steinbusch, Marjolein M J Caron, Don A M Surtel, Franziska Friedrich, Ekkehart Lausch, Ger J M Pruijn, Wouter Verhesen, Blanche L M Schroen, Lodewijk W van Rhijn, Bernhard Zabel, Tim J M Welting
Mutations in the RMRP-gene, encoding the lncRNA component of the RNase MRP complex, are the origin of cartilage-hair hypoplasia. Cartilage-hair hypoplasia is associated with severe dwarfism caused by impaired skeletal development. However, it is not clear why mutations in RMRP RNA lead to skeletal dysplasia. Since chondrogenic differentiation of the growth plate is required for development of long bones, we hypothesized that RMRP RNA plays a pivotal role in chondrogenic differentiation. Expression of Rmrp RNA and RNase MRP protein subunits was detected in the murine growth plate and during the course of chondrogenic differentiation of ATDC5 cultures, where Rmrp RNA expression was found to be correlated with chondrocyte hypertrophy...
July 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28739045/filamin-b-the-next-hotspot-in-skeletal-research
#5
REVIEW
Qiming Xu, Nan Wu, Lijia Cui, Zhihong Wu, Guixing Qiu
Filamin B (FLNB) is a large dimeric actin-binding protein which crosslinks actin cytoskeleton filaments into a dynamic structure. Up to present, pathogenic mutations in FLNB are solely found to cause skeletal deformities, indicating the important role of FLNB in skeletal development. FLNB-related disorders are classified as spondylocarpotarsal synostosis (SCT), Larsen syndrome (LS), atelosteogenesis (AO), boomerang dysplasia (BD), and isolated congenital talipes equinovarus, presenting with scoliosis, short-limbed dwarfism, clubfoot, joint dislocation and other unique skeletal abnormalities...
July 20, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28738237/a-case-report-of-unexpected-pathology-within-an-incarcerated-ventral-hernia
#6
Erica D Kane, Katharine R Bittner, Michelle Bennett, John R Romanelli, Neal E Seymour, Jacqueline J Wu
INTRODUCTION: Incidence of hernial appendicitis is 0.008%, most frequently within inguinal and femoral hernias. Up to 2.5% of appendectomy patients are found to have Crohn's disease. Elucidating the etiology of inflammation is essential for directing management. PRESENTATION OF CASE: A 51-year-old female with achondroplastic dwarfism, multiple cesarean sections, and subsequent massive incisional hernia, presented with ruptured appendicitis within her incarcerated hernia...
2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28733852/wax-crystal-sparse-leaf-4-encoding-a-%C3%AE-ketoacyl-coenzyme-a-synthase-6-is-involved-in-rice-cuticular-wax-accumulation
#7
Lu Gan, Shanshan Zhu, Zhichao Zhao, Linglong Liu, Xiaole Wang, Zhe Zhang, Xin Zhang, Jie Wang, Jiulin Wang, Xiuping Guo, Jianmin Wan
WSL4 encodes a KCS6 protein which is required for cuticular wax accumulation in rice. Very long chain fatty acids (VLCFAs) are essential precursors for cuticular wax biosynthesis. VLCFA biosynthesis occurs in the endoplasmic reticulum and requires the fatty acid elongase (FAE) complex. The β-ketoacyl-coenzyme A synthase (KCS) catalyzes the first step of FAE-mediated VLCFA elongation. Here we characterized the Wax Crystal-Sparse Leaf 4 (WSL4) gene involved in leaf cuticular wax accumulation in rice. The wsl4 mutant displayed a pleiotropic phenotype including dwarfism, less tiller numbers and reduced surface wax load...
July 21, 2017: Plant Cell Reports
https://www.readbyqxmd.com/read/28731035/growth-and-development-dwarfism-linked-to-hypertension-treatment
#8
David Holmes
No abstract text is available yet for this article.
July 21, 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28715672/genomic-and-pathogenic-analysis-of-a-muscovy-duck-parvovirus-strain-causing-short-beak-and-dwarfism-syndrome-without-tongue-protrusion
#9
Qiuling Fu, Yu Huang, Chunhe Wan, Guanghua Fu, Baomin Qi, Longfei Cheng, Shaohua Shi, Hongmei Chen, Rongchang Liu, Zhenhai Chen
In 2008, clinical cases of short beak and dwarfism syndrome (SBDS) caused by Muscovy duck parvovirus (MDPV) infection were found in mule duck and Taiwan white duck farms in Fujian, China. A MDPV LH strain causing duck SBDS without tongue protrusion was isolated in this study. Phylogenetic analysis show that the MDPV LH strain was clustered together with other MDPV strains, but divergent from GPV isolates. Two major fragment deletions were found in the inverted terminal repeats (ITR) of MDPV LH similar to the ones in the ITR of MDPV GX5, YY and SAAS-SHNH strains...
July 12, 2017: Research in Veterinary Science
https://www.readbyqxmd.com/read/28712007/erratum-to-microcephalic-osteodysplastic-primordial-dwarfism-type-ii-a-clinical-review
#10
Michael B Bober, Andrew P Jackson
No abstract text is available yet for this article.
July 15, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28702065/achondroplasia-with-multiple-supplemental-supernumerary-teeth-and-multiple-talon-cusps-a-rare-case-report
#11
Jayam Raviraj, Venkata Suman, Dirasantchu Suresh, K Kartik
Achondroplasia is the most common cause of dwarfism, which is inherited as an autosomal dominant disorder, caused by genetic mutation in fibroblast growth factor 3, leading to defective maturation of chondrocytes. It is known to be associated with various oral and dental manifestations such as delayed dental development, midfacial hypoplasia and constricted maxilla with a relatively large mandible, resulting in skeletal/dental Class III malocclusion, posterior crossbite, anterior reverse jet and anterior overbite...
May 2017: Dental Research Journal
https://www.readbyqxmd.com/read/28697878/current-insights-into-the-molecular-genetic-basis-of-dwarfism-in-livestock
#12
REVIEW
Iris J M Boegheim, Peter A J Leegwater, Hein A van Lith, Willem Back
Impairment of bone growth at a young age leads to dwarfism in adulthood. Dwarfism can be categorised as either proportionate, an overall size reduction without changes in body proportions, or disproportionate, a size reduction in one or more limbs, with changes in body proportions. Many forms of dwarfism are inherited and result from structural disruptions or disrupted signalling pathways. Hormonal disruptions are evident in Brooksville miniature Brahman cattle and Z-linked dwarfism in chickens, caused by mutations in GH1 and GHR...
June 2017: Veterinary Journal
https://www.readbyqxmd.com/read/28683980/midterm-survivorship-and-complications-of-total-knee-arthroplasty-in-patients-with-dwarfism
#13
Timothy L Tan, Michael M Kheir, Ronuk Modi, Chi-Lung Chen, Hongyi Shao, Antonia F Chen
BACKGROUND: Dwarfism is associated with skeletal dysplasias and joint deformities that frequently result in osteoarthritis requiring treatment with total knee arthroplasty (TKA). These surgeries can be challenging because of alignment deformities, poor bone stock, and smaller components. This study aims to compare TKA implant survivorship and complications between dwarf and nondwarf patients. METHODS: A retrospective case-control study was performed from 1997-2014 evaluating 115 TKAs in patients under the height threshold of 147...
June 9, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28644737/circulatory-cnp-rescues-craniofacial-hypoplasia-in-achondroplasia
#14
S Yamanaka, Kazumasa Nakao, N Koyama, Y Isobe, Y Ueda, Y Kanai, E Kondo, T Fujii, M Miura, A Yasoda, Kazuwa Nakao, K Bessho
Achondroplasia is the most common genetic form of human dwarfism, characterized by midfacial hypoplasia resulting in occlusal abnormality and foramen magnum stenosis, leading to serious neurologic complications and hydrocephalus. Currently, surgery is the only way to manage jaw deformity, neurologic complications, and hydrocephalus in patients with achondroplasia. We previously showed that C-type natriuretic peptide (CNP) is a potent stimulator of endochondral bone growth of long bones and vertebrae and is also a potent stimulator in the craniofacial region, which is crucial for midfacial skeletogenesis...
June 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28634271/development-of-the-thyroid-gland
#15
REVIEW
Mikael Nilsson, Henrik Fagman
Thyroid hormones are crucial for organismal development and homeostasis. In humans, untreated congenital hypothyroidism due to thyroid agenesis inevitably leads to cretinism, which comprises irreversible brain dysfunction and dwarfism. Elucidating how the thyroid gland - the only source of thyroid hormones in the body - develops is thus key for understanding and treating thyroid dysgenesis, and for generating thyroid cells in vitro that might be used for cell-based therapies. Here, we review the principal mechanisms involved in thyroid organogenesis and functional differentiation, highlighting how the thyroid forerunner evolved from the endostyle in protochordates to the endocrine gland found in vertebrates...
June 15, 2017: Development
https://www.readbyqxmd.com/read/28628670/combining-ability-heritability-and-genotypic-relations-of-different-physiological-traits-in-cacao-hybrids
#16
Allan Silva Pereira, Alex-Alan Furtado de Almeida, Márcia Christina da Silva Branco, Marcio Gilberto Cardoso Costa, Dario Ahnert
Selecting parents and evaluating progenies is a very important step in breeding programs and involves approaches such as understanding the initial stages of growth and characterizing the variability among genotypes for different parameters, such as physiological, growth, biomass partitioning and nutrient translocation to the aerial part. In these cases, facilitating tools can be used to understand the involved gene dynamics, such as diallel crosses and genetic and phenotypic correlations. Our main hypothesis is that the contrasting phenotypes of these parental genotypes of cocoa used are due to genetic factors, and progenies derived from crosses of these parental genotypes are useful for breeding programs related to plant architecture, physiological parameters and translocation of mineral nutrients...
2017: PloS One
https://www.readbyqxmd.com/read/28619152/the-newly-emerging-duck-origin-goose-parvovirus-in-china-exhibits-a-wide-range-of-pathogenicity-to-main-domesticated-waterfowl
#17
Shifeng Xiao, Shilong Chen, Xiaoxia Cheng, Fengqiang Lin, Shao Wang, Xiaoli Zhu, Bo Yu, Meiqing Huang, Jinxiang Wang, Nanyang Wu, Min Zheng, Shaoying Chen, Fusong Yu
Short beak and dwarfism syndrome virus (SBDSV) is a newly emerging distinct duck-origin goose parvovirus that belongs to the genus Dependovirus. Our previous studies have found that SBDSV was highly pathogenic to Cherry Valley ducklings and mule ducklings. However, little is known about its pathogenicity to other waterfowls. In the present study, the pathogenicity of SBDSV was evaluated in domesticated waterfowl including Muscovy ducklings, Sheldrake ducklings and domestic goslings. All experimentally infected birds exhibited remarkable growth retardation, anorexia and diarrhea similar to naturally infected birds...
May 2017: Veterinary Microbiology
https://www.readbyqxmd.com/read/28617965/further-delineation-of-the-phenotype-caused-by-biallelic-variants-in-the-wdr4-gene
#18
Aurélien Trimouille, Eulalie Lasseaux, Pascal Barat, Caroline Deiller, Séverine Drunat, Caroline Rooryck, Benoît Arveiler, Didier Lacombe
Microcephalic primordial dwarfisms are a group of rare Mendelian disorders characterized by severe growth retardation and microcephaly. The molecular basis is heterogeneous, with disease-causing genes implicated in different cellular functions. Recently, 2 patients were reported with the same homozygous variant in the WDR4 gene, coding for an enzyme responsible for the m(7) G46 post transcriptional modification of tRNA. We report here two sisters harboring compound heterozygous variants of WDR4. Their phenotype differs from that of the first two described patients: they both have a severe microcephaly but only one of the two sisters had a head circumference at birth below -2 SD, their intellectual deficiency is less severe, and they have a GH deficiency and a partial hypogonadotropic hypogonadotropism...
June 15, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28603533/transcriptome-analysis-reveals-differential-gene-expression-and-a-possible-role-of-gibberellins-in-a-shade-tolerant-mutant-of-perennial-ryegrass
#19
Wei Li, Lorenzo Katin-Grazzini, Xianbin Gu, Xiaojing Wang, Rania El-Tanbouly, Huseyin Yer, Chandra Thammina, John Inguagiato, Karl Guillard, Richard J McAvoy, Jill Wegrzyn, Tingting Gu, Yi Li
The molecular basis behind shade tolerance in plants is not fully understood. Previously, we have shown that a connection may exist between shade tolerance and dwarfism, however, the mechanism connecting these phenotypes is not well understood. In order to clarify this connection, we analyzed the transcriptome of a previously identified shade-tolerant mutant of perennial ryegrass (Lolium perenne L.) called shadow-1. shadow-1 mutant plants are dwarf, and are significantly tolerant to shade in a number of environments compared to wild-type controls...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28600781/consequences-of-centrosome-dysfunction-during-brain-development
#20
Maddalena Nano, Renata Basto
Development requires cell proliferation, differentiation and spatial organization of daughter cells to occur in a highly controlled manner. The mode of cell division, the extent of proliferation and the spatial distribution of mitosis allow the formation of tissues of the right size and with the correct structural organization. All these aspects depend on cell cycle duration, correct chromosome segregation and spindle orientation. The centrosome, which is the main microtubule-organizing centre (MTOC) of animal cells, contributes to all these processes...
2017: Advances in Experimental Medicine and Biology
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