Specific aims: (1) to evaluate skeletal development in rats exposed to caffeine prenatally, and (2) to evaluate physiological and behavioral function in rats exposed to caffeine prenatally. The study was designed to assess abnormal skeletal development an...

Skeletal limb abnormalities refer to a variety of bone structure problems in the arms or legs (limbs). ... Skeletal limb abnormalities are most often used to describe defects in the legs or arms that are associated with your genes ...

Apr 21, 2011 ... + Development of Sensory Receptors in Skeletal Muscle (9303006) + Developmental Abnormalities (PARE.04C) ...

Apr 21, 2011 ... + Development of Sensory Receptors in Skeletal Muscle (9303006) + Developmental Abnormalities (PARE.04C) + Effect of Microgravity on ...

Recently researchers have presented a summary of the skeletal abnormalities of fish, in which a few cases of skeletal abnormalities in medaka are cited. But there is no mention of the time at which skeletal abnormalities become apparent as a result of exposure to chemical ...

BackgroundSkeletal and eye abnormalities in amphibians are not well understood, and they appear to be increasing while global populations decline. Here, we present the first study of amphibian abnormalities in Alaska.ObjectiveIn this study we investigated the relationship between anthropogenic influences and the probability of ...

Chondrodysplasia is a subset of skeletal dysplasia caused by genetic defects affecting chondrogenesis and its development, showing abnormal shape and structure of the skeleton. Pathology of growth plate results in defective skeletal development, such as short stature, while pathology of ...

We report on two siblings with an unusual constellation of congenital anomalies comprising 46,XY disorder of sex development (DSD), congenital adrenal hypoplasia, aniridia, dysmorphic facial features, intrauterine growth retardation, and minor skeletal abnormalities. This combination of abnormalities is yet to be ...

The purpose of this study was to establish a nomogram in order to predict limb length discrepancies in children with unilateral fibular hemimelia more accurately. In 31 children with unilateral fibular hemimelia the femoral-tibial length and skeletal age were determined an average of seven times per case by sequential radiographs during growth. From the data, a ...

... Neurofibromatosis Type 1 display skeletal abnormalities including scoliosis and pseudoarthrosis, which are compounded by osteoporosis and poor ...

... Neurofibromatosis Type 1 display skeletal abnormalities including scoliosis and pseudoarthrosis which are compounded by osteoporosis and poor ...

... Received: November 21, 2002Keywords: tawny owl, Strix aluco, developmental abnormalities, skeletal deformities, congenital malformations CASE REPORT Avian congenital ... ...

Skeletal growth is a dynamic process. A knowledge of the structure and function of the normal growth plate is essential in order to understand the pathophysiology of abnormal skeletal growth in various diseases. In this well-illustrated article, the authors provide a radiographic classification of abnormal growth ...

There has been a recent explosion of knowledge concerning the biochemical and molecular defects in the skeletal dysplasia. Through both the candidate gene approach and positional cloning, specific gene defects that produce the skeletal dysplasia have been identified and may be classified into several general categories: (1) qualitative or quantitative ...

Endemic skeletal fluorosis is widely prevalent in India and is a major public health problem. The first ever report of endemic skeletal fluorosis and neurological manifestation was from Prakasam district in Andhra Pradesh in the year 1937. Epidemiological and experimental studies in the endemic areas suggest the role of temperate climate, hard physical ...

... extra legs, cecum, cloaca, scoliosis, skeletal abnormalities, malformation, developmental abnormalities Developmental abnormalities have been described in domestic fowl ... ...

... Skeletal Function and Form: Mechanobiology of Skeletal Development, Aging, and Regeneration Carter, D. R., and G. S. ... Skeletal Function and Form: Mechanobiology of Skeletal Development, Aging, and Reg...

The development of skeletal lesions in two canine models of GM1-gangliosidosis, English springer spaniels and Portuguese water dogs, has been studied and compared to osseous abnormalities in a child with the infantile form of the disease. In the canine models, skeletal dysplasia was progressive. Lesions were noted ...

Growth is a physiologically demanding process that requires adequate amounts of energy as well as optimal intake of essential nutrients. Key nutritional factors, including energy and calcium, have been identified as important during growth. Large-breed puppies have a genetic tendency toward fast growth rates that can stress developing skeletal structures ...

Congenital abnormalities (CA) are deviations from the normal embryonic development that appear antenatal and they are characterized by the alteration of the morphology and function of an organ, system of organs or even of the entire body. MATERIAL AND METHOD: The study, on a period of eight years, included 1685 children with CA, from which 58% were males ...

AbstractMechanical forces are essential for normal adult bone function and repair, but the impact of prenatal muscle contractions on bone development remains to be explored in depth in mammalian model systems. In this study, we analyze skeletogenesis in two �muscleless� mouse mutant models in which the formation of skeletal muscle ...

Limb-girdle muscular dystrophy type 2I (LGMD-2I) is caused by mutations in fukutin-related protein gene (FKRP) that lead to abnormal glycosylation of ?-dystroglycan in skeletal muscle. Heart involvement in LGMD-2I is common, but little is known about underlying cardiac pathology. Here, we describe two patients with LGMD-2I (homozygous FKRP mutation ...

Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder of muscular dystrophy characterized by muscle weakness and wasting. DM1 is caused by expansion of CTG repeats in the 3'-untranslated region (3'-UTR) of DM protein kinase (DMPK) gene. Since CUG-repeat RNA transcribed from the expansion of CTG repeats traps RNA-binding proteins that regulate alternative splicing, several ...

Fibroblast growth factors (FGFs) play important roles in the control of embryonic and postnatal skeletal development by activating signaling through FGF receptors (FGFRs). Germline gain-of-function mutations in FGFR constitutively activate FGFR signaling, causing chondrocyte and osteoblast dysfunctions that result in skeletal ...

... of the patient in preventing the development of septic ... This abnormality occurs ... studies concerning the mechanisms by which abnormalities of the ...

Thyroid hormones are critical determinants of postnatal skeletal development. Thyroid hormone deficiency or excess in children results in severe abnormalities of linear growth and bone maturation. These clinical observations have been recapitulated in mutant mice and these models have facilitated studies of the mechanisms of thyroid ...

SHP-2 (encoded by PTPN11) is a ubiquitously expressed protein tyrosine phosphatase required for signal transduction by multiple different cell surface receptors. Humans with germline SHP-2 mutations develop Noonan syndrome or LEOPARD syndrome, which are characterized by cardiovascular, neurological and skeletal abnormalities. To study ...

SUMMARYSHP-2 (encoded by PTPN11) is a ubiquitously expressed protein tyrosine phosphatase required for signal transduction by multiple different cell surface receptors. Humans with germline SHP-2 mutations develop Noonan syndrome or LEOPARD syndrome, which are characterized by cardiovascular, neurological and skeletal abnormalities. To ...

Kashin-Beck disease, a syndrome characterized by short stature, skeletal deformities, and arthropathy of multiple joints, is highly prevalent in specific regions of Asia. The disease has been postulated to result from a combination of different environmental factors, including contamination of barley by mold mycotoxins, iodine deficiency, presence of humic substances in ...

Kashin-Beck disease, a syndrome characterized by short stature, skeletal deformities, and arthropathy of multiple joints, is highly prevalent in specific regions of Asia. The disease has been postulated to result from a combination of different environmental factors, including contamination of barley by mold mycotoxins, iodine deficiency, presence of humic substances in ...

Abnormalities of the skeletal and urogenital system are discussed which result from an interference with the metabolism of calcium in cadmium workers.

Ror1 is a member of the Ror-family receptor tyrosine kinases. Ror1 is broadly expressed in various tissues and organs during mouse embryonic development. However, so far little is known about its function. The closely related family member Ror2 was shown to play a crucial role in skeletogenesis and has been shown to act as a co-receptor for Wnt5a mediating non-canonical ...

Skeletal and eye abnormalities in amphibians are not well understood, and they appear to be increasing while global populations decline. Here, we present the first study of amphibian ...

and others 2009). Musculo-skeletal anomalies such as limb anomalies, joint laxity and scoliosis have also-skeletal abnormalities no joint laxity no no joint laxity (4/8) scoliosis (2/7) Genital abnormalities micropenis

A large proportion of patients with Neurofibromatosis Type 1 display skeletal abnormalities including scoliosis and pseudoarthrosis which are compounded by osteoporosis and poor bone healing. Corrective orthopaedic intervention often fails necessitating m...

Cathepsin K, a papain-like cysteine protease, is highly expressed in osteoclasts and plays a critical role in bone resorption. Dysfunction of the enzyme leads to various skeletal abnormalities. The recent knowledge that the collagenolytic activity of cathepsin K depends on interactions with bone and cartilage-resident glycosaminoglycans (GAGs) may shed ...

Fibrous dysplasia (FD) of bone is one of the most frequently encountered anomalies of skeletal development. It may involve one or more bones and, particularly when polyostotic, is sometimes associated with abnormal skin pigmentation and endocrine abnormalities. FD occurs mainly in large limb bones, ribs, and ...

The pattern of cell death in the limb skeleton of irradiated chick embryos is distinct from that which normally occurs. It is apparent that cell death is a factor in molding the contours of the leg in normal development. Massive necroses also occur at other sites, such as in presumptive joint regions and on contours of skeletal elements, the ...

Modifications of histone tails are involved in the regulation of a wide range of biological processes including cell cycle, cell survival, cell division, and cell differentiation. Among the modifications, histone methylation plays a critical role in cardiac and skeletal muscle differentiation. In our earlier studies, we found that SMYD3 has methyltransferase activity to ...

We report a case of spontaneous intrauterine fracture of the right tibia and fibula in an otherwise healthy fetus at 20 weeks of gestation. The fracture healed in utero in an abnormal position. Postnatal development of the baby was normal with spontaneous correction of the angulation, and no underlying disease could be discovered. Spontaneous isolated ...

The effects of in vivo heat exposure on gestation day (GD) 10 rat embryos were studied on GD 11 to determine the relationships between morphological effects following in vivo and in vitro exposures and between effects observed on GC 11 and those observed in PND 3 pups. nesthetize...

Neurofibromatosis type 1 (NF1) is one of the most common genetic diseases affecting the nervous system. In addition to cognitive, skeletal, and vascular abnormalities, individuals with NF1 are also prone to the development of both benign and malignant tumors. Our group focuses on the malignant tumors, astrocytoma and malignant ...

Three healthy horses were fed 0.17 mg/kg body weight of the beta-adrenergic agonist zilpaterol to determine zilpaterol elimination kinetics. Shortly after treatment, each horse developed skeletal muscle tremors, tachycardia, and serological abnormalities lasting several days. A 75% to 87.5% reduced ...

This atlas was compiled to provide the neophyte as well as the experienced radiologist and the nuclear medicine physician with a reference on normal skeletal scintigraphy as an aid in distinguishing normal variations in skeletal uptake from abnormal findings. Each skeletal scintigraph is labeled, and utilizing an ...

The advances in ultrasound technology have made it possible to identify fetal structural abnormalities and genetic syndromes in the first trimester. First trimester prenatal diagnosis of fetal central nervous system, renal, gastrointestinal, cardiac, and skeletal abnormalities is reviewed. PMID:11981912

BACKGROUNDEstablishing the genetic basis of phenotypes such as skeletal dysplasia in model organisms can provide insights into biologic processes and their role in human disease.METHODSWe screened mutagenized mice and observed a neonatal lethal skeletal dysplasia with an autosomal recessive pattern of inheritance. Through genetic mapping and positional ...

During embryogenesis, muscle and bone develop in close temporal and spatial proximity. We show that Indian Hedgehog, a bone-derived signaling molecule, participates in growth of skeletal muscle. In Ihh(-/-) embryos, skeletal muscle development appears abnormal at embryonic day 14.5 and at later ...

... a brief outline for the development and implementation of ... data exceptions with the abnormalities will be ... the attributes of the abnormality and search ...

Liang Bua 1 (LB1) exhibits marked craniofacial and postcranial asymmetries and other indicators of abnormal growth and development. Anomalies aside, 140 cranial features place LB1 within modern human ranges of variation, resembling Australomelanesian populations. Mandibular and dental features of LB1 and LB6/1 either show no substantial deviation from ...

Individuals with nerofibromatosis Type 1 (NF1) frequently suffer a spectrum of bone pathologies, such as abnormal skeletal development (scoliosis, congenital bowing, and congenital pseudoarthroses, etc), lower bone mineral density with increased fracture risk. These skeletal problems may result, in part, from ...

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease of motor neurons (MNs) that causes skeletal muscle paralysis. Familial forms of ALS are linked to mutations in the superoxide dismutase-1 (SOD1) gene. The mechanisms of human SOD1 (hSOD1) toxicity to MNs are unknown. We hypothesized that skeletal muscle is a primary site of ...

The major component of skeletal muscle is the myofibre. Genetic intervention inducing over-enlargement of myofibres beyond a certain threshold through acellular growth causes a reduction in the specific tension generating capacity of the muscle. However the physiological parameters of a genetic model that harbours reduced skeletal muscle mass have yet to ...

We describe the clinical, genetic, biochemical, and molecular characterization of a mouse that arose in the first generation (G₁) of a random mutagenesis screen with the chemical mutagen ethyl-nitrosourea. The mouse was observed to have skeletal abnormalities inherited with an X-linked dominant pattern of inheritance. The causative ...

Chronic heart failure (CHF), the new epidemic in cardiology, is characterized by energetic failure of both cardiac and skeletal muscles. The failing heart wastes energy due to anatomical changes that include cavity enlargement, altered geometry, tachycardia, mitral insufficiency and abnormal loading, while skeletal muscle undergoes ...

We present the first report of the development of characteristic radiologic appearances of long bones during the first year of life in an infant with type V osteogenesis imperfecta (OI). We show the evolution of metaphyseal abnormalities from a rickets-like appearance to the classically described dense metaphyseal bands. These ...

We examined and described the development and abnormalities of the axial skeleton in 10 human trisomy 18 fetuses. Whole-body radiographs and radiographs of midsagittal tissue blocks of the cranial base and the spine were studied. In 3 fetuses no spinal radiographs were available. Seven osseous regions or fields along the body axis were analyzed, four in ...

Autosomal dominant Hyper IgE syndrome (AD-HIES) is a rare primary immunodeficiency characterized by eczema, recurrent skin and lung infections, elevated serum IgE, and various connective tissue, skeletal, and vascular abnormalities. Mutations in Signal transducer and activator of transcription 3 (STAT3) have recently been found to account for the majority ...

We tested the hypothesis that gross morphological abnormalities are a sensitive indicator of exposure to waterborne androgenic and anti-androgenic compounds during embryonic, larval and juvenile stages of development in the common estuarine killifish, the mummichog (Fundulus heteroclitus; Pisces: Cyprinodontidae). Static exposures with daily renewal were ...