skeletal abnormalities
ATHLETIC ACTIVITIES BY CHILDREN WITH SKELETAL ABNORMALITIES
... athletic competition for children with corn- mon skeletal abnormalities : ( 1 ) mild ath- letic competition: walking, bicycle riding,. jogging; (2) moderate athletic competi-[r] ...
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Hutchinson Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports
... Most of the classic cases of HGPS are reported to be caused by a single base substitution 1824C>T in LMNA , which activates a cryptic splicing site [8]. Here we identi- fied a homozygous mutation c.1579C>T LMNA in ...
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Kbus/Idr, a mutant mouse strain with skeletal abnormalities and hypophosphatemia: Identification as an allele of 'Hyp'
... PHEX, another potent mediator of phosphate homeos- tasis, has been identified from analyses of human X- linked hypophosphatemic rickets (XLH) [12] and Hyp mutant models [13,14]. Loss-of-function mutations of PHEX/Phex ...
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SKELETAL ABNORMALITIES IN THE F1 GENERATION OF MICE EXPOSED TO IONIZING RADIATIONS
... 2). For Class- 1 abnormalities, a highly significant increase in frequency was observed in offspring of irradiated males. This increase is due largely, if not whol[r] ...
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Arteriohepatic Dysplasia: Association of Liver Disease with Pulmonary Arterial Stenosis as Well as Facial and Skeletal Abnormalities
... Arteriohepatic Dysplasia: Association of Liver Disease with Pulmonary Arterial. http://pediatrics.aappublications.org/content/66/6/876[r] ...
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Role of receptor activity modifying protein-2 (RAMP2) in endocrine physiology of female mice
... HAPLOINSUFFICIENCY OF RECEPTOR ACTIVITY-MODIFYING PROTEIN- 2 (RAMP2) CAUSES REDUCED FERTILITY, HYPERPROLACTINEMIA, SKELETAL ABNORMALITIES AND ENDOCRINE DYSFUNCTION IN MICE (25) .... A [r] ...
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Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases
... with skeletal abnormalities via ultrasound at the Ob- stetrics and Gynecology Hospital of Capital Medical University, Beijing, China between January 2014 and June ...fetal skeletal malformations, ...
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Alpha-mannosidosis
... and skeletal abnormalities, hearing impairment, and intellectual ...life), skeletal abnormalities (mild-to-moderate dysostosis multiplex, scoliosis and deformation of the sternum), hearing ...
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PRODUCTION OF CONGENITAL ANOMALIES IN MAMMALS BY MATERNAL DIETARY DEFICIENCIES
... M.: Congenital skeletal abnormalities in fetal rats re- sulting from maternal pteroylglutamic acid deficiency during gestation. M.: Abnormalities of the urinary system of rat embryos res[r] ...
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Congenital cardiac anomalies in myelomeningocele patients
... Cardiac abnormalities have not been reported to occur more of- ten with any specific location of the MMC defect ...study, skeletal abnormalities involving the ribs and vertebral column (associated ...
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Prenatal Diagnosis of Abnormal Sternum Development and Dilated Aortic Root in a Fetus with a Novel 204 kb Microdeletion of the TGFRB2 Gene
... The mean age of death in LDS patients is 26.1 years [1]. The major sources of mor- bidity and mortality in LDS are attributed to aortic dissection and rupture, mitral valve prolapse, and enlargement of the proximal ...
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Fetal Malformations Due to Long Term Consumption of Sodium Benzoate in Pregnant Balb/c Mice
... of skeletal and neural system, perhaps one can interpret effect mechanism of some compounds such as SB which threatens the growing genome by producing some metabolites and endangers morphogenesis of ...
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Novel mutation in <em>ABBC9</em> gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype
... However, CS is a part of a wide phenotypic spectrum with variable severity including, AFA, HAFA syndromes, and skel- etal dysplasia or CS, which is the most severe form. We report a case of an 8-year-old girl from ...
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The Effect of Knee Deformity on Pain Intensity and Functional Fitness in Middle Age Male with Nonspecific Chronic Low Back Pain
... knee abnormalities (Genu valgum and Genu varum) made a difference to the severity of pain and functional fitness of the patients with non - specific chronic low back pain, and corrective exercises for the said ...
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Enzootic ataxia associated with copper deficiency in a farmed red deer: a case report
... Pathological findings. The animal was in poor condition, but antlers were apparently in good shape. Its coat was dull and dry, and exhibited hair loss in the right hip region. Small multifocal haem- orrhages were found ...
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Differential control of band 3 lateral and rotational mobility in intact red cells
... In addition, SAO RBCs exhibit a very large fraction of rotationally immobile band 3 30, 31, 46.2 Studies correlating defined molecular abnormalities in membrane skeletal proteins with ba[r] ...
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microRNA 206 promotes skeletal muscle regeneration and delays progression of Duchenne muscular dystrophy in mice
... Therapeutic implications. Since the identification of the dystrophin gene in 1986, there has been intense effort to develop potential therapies for DMD. Current strategies to treat DMD include deliv- ering functional ...
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Evaluating Children With Fractures for Child Physical Abuse
... The past medical history is important and should include details about the mother ’ s pregnancy. If the child was born preterm, the infant ’ s bone min- eral content may be reduced, and the infant may be at risk for ...
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Complementation Mapping of Skeletal and Central Nervous System Abnormalities in Mice of the piebald Deletion Complex
... There were also similarities to “induced skeletal malformations (KESSEL and GRUSS 1991; KESSEL 1992) and those seen with loss-of-function mutations in the RARs (LOHNES et[r] ...
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Clinical, laboratory and pathological findings in sub-acute monensin intoxication in goats
... toxicity was evaluated by clinical signs, serum biochemistry and pathology. Monensin exposure caused diarrhea, tachycardia and reduction in ruminal movements and body temperature. Significant increase of creatine kinase, ...
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