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Welcome to the Pubget Medical Subject Headings (MESH) browser. Click on a topic or subtopic below to explore related papers. In the gold box is the most recent paper about the current MESH term, and below are 20 related papers.
Dwarfism (7):
Recent article
Dwarfism
Abstract
We report, based on measurements of dihydroethidium fluorescence, tissue isoprostane, GSH, and ascorbate content, that peripubertal GH/IGF-1 deficiency in Lewis dwarf rats increases vascular oxidative stress, which is prevented by GH replacement. Peripubertal GHD did not alter superoxide dismutase o...
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PMID: 20713653
PDF is available here.
PDF is available here.
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Cell Biology International (34)11 2010
Abstract
We identified that, compared with SLD fibroblasts, normal fibroblasts promoted myogenesis of primary SLD myoblasts by improving their differentiation potential in a paracrine fashion, and this effect was involved in both primary and secondary fusions. This process was also coupled with up-regulation...
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PMID: 20569202
PDF is available here.
PDF is available here.
Abstract
We tried to identity the signaling mechanism and develop a system to assess pro-longevity status in cells and mice. We previously identified genes up-regulated in the liver of DF and CR mice by DNA microarray analysis. Motif analysis of the upstream sequences of those genes revealed four major conse...
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PMID: 20846506
PDF is available here.
PDF is available here.
Endocrinology (151)7 2010
Abstract
Hypothalamic tuberoinfundibular dopaminergic (TIDA) neurons secrete dopamine, which inhibits pituitary prolactin (PRL) secretion. PRL has demonstrated neurotrophic effects on TIDA neuron development in PRL-, GH-, and TSH-deficient Ames (df/df) and Snell (dw/dw) dwarf mice. However, both PRL and PRL...
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PMID: 20463054
PDF is available here.
PDF is available here.
Abstract
We present strong histological evidence that M. dacus was indeed a dwarf (phyletic nanoid). Bone histological analysis of an ontogenetic series of Magyarosaurus limb bones indicates that even the smallest Magyarosaurus specimens exhibit a bone microstructure identical to fully mature or old individu...
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PMID: 20435913
PDF is available here.
PDF is available here.
Archives de Pédiatrie (17)5 2010
Abstract
The authors report on a 6-month-old girl with Kabuki syndrome, admitted for acute diarrhoea and growth retardation at the Mayotte hospital. From this case, they try to explain the way of understanding and management in front of dysmorphic features.
Copyright 2010 Elsevier Masson SAS. All rights res...
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PMID: 20138485
PDF is available here.
PDF is available here.
Abstract
We identified one patient with a 12q14 microdeletion. The 12q14 microdeletion syndrome is characterised by dwarfism but it additionally includes mental retardation and osteopoikilosis. The deletion in our patient is smaller than those in the 12q14 microdeletion carriers but it also affects the LEMD3...
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PMID: 19762329
PDF is available here.
PDF is available here.
Archives de Pédiatrie (17)4 2010
Abstract
Abstract
The objective of the study was to estimate the prevalence of extreme anthropometric measurements in children indicative of their nutritional status. A cross-sectional study was conducted in a random sample of 1,386 children under five in the state of Alagoas, northeastern Brazil. The prevalence of d...
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PMID: 20339640
PDF is available here.
PDF is available here.
Abstract
Abstract
Two different forms of dyssegmental dysplasia can be distinguished; the lethal Silverman-Handmaker type and less severe Rolland-Desbuquois type. Patients with Rolland-Desbuquois type often survive beyond neonatal period. The purpose of this paper is to report a rare case of Dyssegmental dysplasia, R...
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PMID: 20419979
PDF is available here.
PDF is available here.
Abstract
We report a prenatally diagnosed patient with spondylocostal dysostosis (SCD) with accompanying congenital inguinoscrotal hernia. A 28-year-old pregnant women, gravida 4, para 3, was referred to our clinic with a diagnosis of wedging of fetal thoracal vertebra and kyphoscoliosis at 28 weeks of gesta...
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PMID: 19634089
PDF is available here.
PDF is available here.
Journal of Cell Biology (188)2 2010
Abstract
We focus on human conditions associated with loss or elevation of pericentrin and propose cellular and molecular models that might explain them....
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PMID: 19951897
PDF is available here.
PDF is available here.
Abstract
A pericentric inversion of chromosome 18 [inv(18)(p11.32q22)] and its recombinants has been studied in a three-generation family. A mother/son couple, carrying the rec dup(18q), showed dysmorphisms and short stature but only the son had mild mental retardation and speech delay. Karyotype, FISH analy...
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PMID: 20420035
PDF is available here.
PDF is available here.
Abstract
We report a male newborn with typical findings of Seckel sydrome associated with Tetrology of Fallot. This is the first case reported in concomitance with Tetralogy of Fallot, and might be a new finding of the syndrome. We would like to emphasize that clinicians should perform diagnostic interventio...
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PMID: 20420029
PDF is available here.
PDF is available here.
Pediatric Dentistry (32)5 2010
Abstract
Seckel syndrome is a rare form of primordial dwarfism that is characterized by short stature, skeletal defects, mental retardation, and characteristic facial features such as microcephaly, micrognathia, and a bird-head appearance. Dental findings include hypodontia, enamel hypoplasia, crowding, and...
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PMID: 21070714
PDF is available here.
PDF is available here.
Abstract
We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome. At age 3 years, he became paralyzed due to a cerebro...
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PMID: 19839044
PDF is available here.
PDF is available here.
Scientific American (301)5 2009
Abstract
Abstract
Children with Marfan syndrome and spinal deformity may have serious cardiac abnormalities. Spontaneous dissection of the aortic root is a clear danger and patients should be monitored by serial echocardiograms. Prophylactic cardiac surgery may be necessary before spinal surgery is to be performed. P...
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PMID: 19644333
PDF is available here.
PDF is available here.
Mammalian Genome (20)7 2009
Abstract
We identified a novel fertile autosomal recessive mutation called peewee that results in dwarfing, in a region-specific ENU-induced mutagenesis. These mice at litter size were smaller those of other strains. Histological analysis revealed that the major organs appear normal, but abnormalities in cel...
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PMID: 19513787
PDF is available here.
PDF is available here.
Mammalian Genome (20)6 2009
Abstract
We sought to create mice with a hypomorphic Atr mutation based on the ATR mutation in the human disease Seckel syndrome-1 (SCKL1). Homozygous SCKL1 mice were generated by targeted knock-in of the A --> G SCKL1 mutation. Western blot and RT-PCR analysis established that homozygotes have no reduction...
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PMID: 19504344
PDF is available here.
PDF is available here.
Kinderkrankenschwester : Organ der Sektion Kinderkrankenpflege / Deutsche Gesellschaft fur Sozialpadiatrie und Deutsche Gesellschaft fur Kinderheilkunde (28)6 2009
Abstract
Abstract
Seckel syndrome is an autosomal recessive disorder characterized by intrauterine and postnatal growth delay, microcephaly with mental retardation, and facial dysmorphisms including micrognathia, a recessed forehead, and a large beaked nose. Occurring in 1 in 10,000 children without sex preference, i...
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PMID: 19338412
PDF is available here.
PDF is available here.
Italian journal of anatomy and embryology = Archivio italiano di anatomia ed embriologia (114)4 2009
Abstract
The work reports morphometric analysis of the skulls of the Sahel breed of goat. The calculated metric data (mean +/- SD) included the condylobasal length, 16.94 +/- 1.39 cm, while the orbital circumference was 11.30 +/- 0.48 cm. The foramen magnum height and width were 1.82 +/- 0.11 cm and 1.85 +/-...
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PMID: 20578673
PDF is available here.
PDF is available here.
Abstract
This study compares laying performances between two environments of dwarf laying hen lines segregating for the naked neck mutation (NA locus), a selected dwarf line of brown-egg layers and its control line. Layers with one of the three genotypes at the NA locus were produced from 11 sires from the c...
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PMID: 19284708
PDF is available here.
PDF is available here.
Abstract
We report two familial cases of LWD with a large Xp terminal deletion (approximately 943 kb) of distal PAR1 encompassing the SHOX gene. In addition, the proband had mental retardation which appeared to be from recessive inheritance in the family....
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PMID: 19400538
PDF is available here.
PDF is available here.
Mammalian Genome (20)11-12 2009
Abstract
We characterized dwg mutations by investigating their association with the Ggt1 gene. Histological analysis revealed reduced numbers of proliferative and hypertrophic chondrocytes in the growth plate of dwg/dwg mice, which are characteristic abnormalities observed in GGT1-deficient mice. To identify...
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PMID: 19760322
PDF is available here.
PDF is available here.
Hormone Research (72)2 2009
Abstract
The concept of health-related quality of life (HrQoL) reflects the subjective perception of health and includes aspects of well-being and functioning in physical, emotional, mental and social life domains. Nowadays, HrQoL has become a relevant treatment outcome from epidemiological and clinical pers...
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PMID: 19690423
PDF is available here.
PDF is available here.
Hormone Research (72)2 2009
Abstract
Research on the health-related quality of life (HrQoL) impact of short stature and its treatment in children and adolescents has developed recently. Based on a PubMed literature search, studies addressing this issue were identified and considerable methodological problems mainly related to the HrQoL...
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PMID: 19690424
PDF is available here.
PDF is available here.
Abstract
Clinical calcium (18)12 2008
Abstract
We described the condition of the disease, clinical appearance, X-rays appearance, orthopaedic problems about Achondroplasia, Pseudoachondroplasia, Metaphyseal Chondrodysplasia (Schmid type) , Mesomelic dysplasia (Dyschondrosteosis) as a representative bone dysplasia who present a short stature with...
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PMID: 19043194
PDF is available here.
PDF is available here.
Abstract
I reviewed the previously existing knowledge of dwarfism in ancient Egypt. The purpose of this second historical review is to add to that knowledge with an expanded contribution. The artistic documentation of people with skeletal dysplasia from ancient Egypt is plentiful including hundreds of amulet...
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PMID: 19006207
PDF is available here.
PDF is available here.
Abstract
We have documented the clinical and radiological features of a girl with a severe form of spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type, which is associated with marked articular hypermobility. This condition is to be differentiated clinically from generalized hyperm...
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PMID: 18841068
PDF is available here.
PDF is available here.
Abstract
The purpose of this study was to determine the effects of bone sialoprotein (BSP) overexpression in bone metabolism in vivo by using a homozygous transgenic mouse line that constitutively overexpresses mouse BSP cDNA driven by the cytomegalovirus (CMV) promoter. CMV-BSP transgenic (TG) mice and wild...
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PMID: 18597627
PDF is available here.
PDF is available here.
Abstract
We compared endothelial O2(-) and H2O2 production, mitochondrial reactive oxygen species (ROS) generation, expression of antioxidant enzymes, and nitric oxide (NO) production in aortas of Ames dwarf and wild-type control mice. In Ames dwarf aortas endothelial O2(-) and H2O2 production and ROS genera...
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PMID: 18757483
PDF is available here.
PDF is available here.
Abstract
Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. It is a genetic disorder, usually diagnosed at an early age. However, the diagnosis is sometimes late, made as a result of bone fracture, given the severe bone fragility resulting from increased bone density. O...
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PMID: 18830170
PDF is available here.
PDF is available here.
Abstract
Journal of Biological Chemistry (283)39 2008
Abstract
We generated chondrocyte-specific bcl-x knock-out mice using the Cre-loxP recombination system, and we provided evidence that the hypertrophic chondrocyte layer was shortened in those mice because of an increased apoptosis of prehypertrophic and hypertrophic chondrocytes, with the mice afflicted wit...
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PMID: 18632667
PDF is available here.
PDF is available here.
Abstract
We determined that 30-fold to greater than 100-fold more CNP(lbab) was required to activate NPR-B as compared to wild-type CNP in whole cell cGMP elevation and membrane guanylyl cyclase assays. The reduced ability of CNP(lbab) to activate NPR-B was explained, at least in part, by decreased binding s...
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PMID: 18554750
PDF is available here.
PDF is available here.
Pediatric Anesthesia (18)8 2008
Abstract
Abstract
The clinical presentation of homozygous ALS mutations may, besides short stature, include microcephaly. Heterozygous carriers may have less statural and head growth, suggestive for a gene dosage effect....
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PMID: 18463107
PDF is available here.
PDF is available here.
Molecular Endocrinology (22)8 2008
Abstract
Smallie (slie), a spontaneous, autosomal-recessive mutation causes dwarfing and infertility in mice. The purpose of this study was to determine and characterize the underlying molecular genetic basis for its phenotype. The slie locus was mapped to chromosome 1, and fine-structure mapping narrowed th...
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PMID: 18483174
PDF is available here.
PDF is available here.
Abstract
Giant fibrovascular polyps of the esophagus are life-threatening because of potential airway obstruction. This report describes the successful endoscopic removal of a giant fibrovascular polyp, avoiding the potential morbidity associated with a transcervical vertical esophagotomy....
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PMID: 18771074
PDF is available here.
PDF is available here.
Abstract
We develop a model that predicts the pattern of sexuality in barnacles by two key environmental factors: (i) food availability and (ii) the fraction of larvae that settle on the sea floor. Populations in the model consist of small individuals and large ones. We calculate the optimal resource allocat...
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PMID: 18342337
PDF is available here.
PDF is available here.
Abstract
Growth hormone has been used in the treatment of patients with idiopathic short stature. Clinical and laboratory criteria are discussed, taking into consideration the indication of GH and the evaluation of its efficacy and individual responsiveness. Anthropometric, psychosocial, ethical, and also co...
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PMID: 18797581
PDF is available here.
PDF is available here.
Abstract
Short stature is the major characteristic of Turner syndrome. The statural appeal is premature and become evident in the puberty. Haploinsufficiency of SHOX gene has been related as main factor on final height of these patients. Despite the majority of the patients are not growth hormone deficient,...
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PMID: 18797582
PDF is available here.
PDF is available here.
Abstract
We review clinical, molecular and therapeutic aspects of SHOX haploinsufficiency....
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PMID: 18797583
PDF is available here.
PDF is available here.
Abstract
Growth disorders are commonly observed in children suffering from chronic diseases. The pathogenesis of growth failure is multifactorial. In chronic inflammatory diseases such as juvenile idiopathic arthritis and inflammatory bowel disease, growth is also affected by pro-inflammatory cytokines. Pati...
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PMID: 18797584
PDF is available here.
PDF is available here.
Abstract
We hypothesize that these individuals are myxoedematous endemic (ME) cretins, part of an inland population of (mostly unaffected) Homo sapiens. ME cretins are born without a functioning thyroid; their congenital hypothyroidism leads to severe dwarfism and reduced brain size, but less severe mental r...
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PMID: 18319214
PDF is available here.
PDF is available here.
Scientific American (298)6 2008
Abstract
Abstract
Abstract
Abstract
We present a case of a bilateral hip replacement in a dwarf patient. In order to reduce intraoperative complications and improve the joint kinematics a thorough preoperative planning was performed by a CT based computerised system. On the basis of the planning we chose a conical shaped stem that ena...
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PMID: 18409035
PDF is available here.
PDF is available here.
Abstract
We present a case of Seckel syndrome with semilobar holoprosencephaly as associated CNS anomaly, which to the best of our knowledge has not been reported earlier....
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PMID: 18537018
PDF is available here.
PDF is available here.
Abstract
An extreme form of abnormal development, dwarfism, is common in man and some animals, but has not been officially reported in horses. Within the Friesian horse breed, congenital dwarfism has been recognised for many years, but no detailed report exists on its phenotype. The most salient feature of t...
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PMID: 18267883
PDF is available here.
PDF is available here.
Abstract
We report on clinical and radiological features of 19 novel MD patients. We describe new radiological features, including precocious calcification of hyoid and cricoid cartilage, irregular and squared-off calcaneal bones and severe hypoplasia of the anterior portion of first cervical vertebrae. In a...
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PMID: 18348257
PDF is available here.
PDF is available here.
Abstract
Abstract
The authors report a case of a nonachondroplastic dwarf with severe basilar invagination and compression of the cervicomedullary junction (CMJ) due to juvenile rheumatoid arthritis. Initially excellent reduction of the invagination and decompression of the CMJ was achieved using posterior fixation....
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PMID: 18377323
PDF is available here.
PDF is available here.