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Sample records for prominent spondyloepiphyseal dysplasia

  1. Spondyloepiphyseal dysplasia congenita

    International Nuclear Information System (INIS)

    Macpherson, R.I.; Wood, B.P.

    1980-01-01

    Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed. (orig.) [de

  2. Spondyloepiphyseal dysplasia congenita. A cause of lethal neonatal dwarfism

    Energy Technology Data Exchange (ETDEWEB)

    Macpherson, R.I.; Wood, B.P.

    1980-07-01

    Spondyloepiphyseal dysplasia congenita is a form of primarily short trunk dwarfism, that is manifest at birth but generally has not been regarded as a cause of lethal neonatal dwarfism. Seven neonates with severe dwarfism are presented. The first survived the newborn period, but the other six were early neonatal deaths. All displayed the clinical and radiologic features of spondyloepiphyseal dysplasia congenita. The striking similarities between spondyloepiphyseal dysplasia congenita and achondrogenesis type 2 are discussed.

  3. Genetics Home Reference: X-linked spondyloepiphyseal dysplasia tarda

    Science.gov (United States)

    ... Educational Resources (6 links) Cincinnati Children's Hospital: Coxa Vera Disease InfoSearch: Spondyloepiphyseal dysplasia tarda X-linked Johns ... Free article on PubMed Central Savarirayan R, Thompson E, Gécz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400). ...

  4. An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita

    Directory of Open Access Journals (Sweden)

    Onur Elbasan

    2017-12-01

    Full Text Available Skeletal dysplasia is a complex and rare disease group that presents with clinical and radiological findings that differ from classical metabolic bone diseases in which bone and cartilage tissue are affected together. Spondyloepiphyseal dysplasia conjenita with involvement of the spine and long bone epiphyses is seen with short stature and short body from birth. Although bone deformities such as shortness of neck and vertebrae, kyphosis, scoliosis, pectus carinatum, genu varum or valgum are frequent, association with osteopenia/osteoporosis has been rarely reported. Although spondyloepiphyseal dysplasia tarda and osteopenia are coexisting in the literature, there is no evidence of the association of spondyloepiphyseal dysplasia tarda and conjunctiva with osteoporosis. In our case report, we presented a patient who was applied to our center with short stature, diagnosed with osteoporosis and spondyloepiphyseal dysplasia congenita by detecting femur head aplasia in radiological imaging.

  5. Case report 486: Spondyloepiphyseal dysplasia tarda (SDT) (presumptively proved)

    International Nuclear Information System (INIS)

    Brown, D.D.; Childress, M.H.

    1988-01-01

    A 51 year old man with severe degenerative joint disease, short stature, barrel chest deformity, platyspondyly, a narrow pelvis, small iliac bones, dysplastic femoral heads and necks, notching of the patellae and flattening of the femoral intercondylar notches has been described as an example of Spondyloepiphyseal dysplasia tarda SDT. The entity was discussed in detail. The notching of the patellae has not been reported in association with SDT to the authors' knowledge. Characteristic features of SDT allow it to be differentiated from other arthropathies and dysplasias and these distinctions have been emphasized in the discussion. The diagnosis in this case can only be considered presumptively proved. (orig./MG)

  6. Localised form of spondylo-epiphyseal dysplasia congenita

    International Nuclear Information System (INIS)

    Hoeffel, J.C.; Mohy, R.; Collignon, P.; Moog, G.

    1988-01-01

    We report an unusual case of spondylo-epiphyseal dysplasia congenita which affected only the hips and the thoraco-lumbar spine. The epiphysis of the long bones are normal apart from the hips. Our child has a bilateral epiphyseal dysplasia of both proximal femoral epiphysis discovered incidentally at 11 months and confirmed later on at 8 years, associated with abnormalities of the superior margin of the vertebral bodies from T11 to L2. Very few similar cases have been reported anteriorly. (orig.) [de

  7. Spondyloepiphyseal Dysplasia Tarda and Osteoporosis: A Case Report - Case Report

    Directory of Open Access Journals (Sweden)

    Şükran Kurtulmuş

    2006-03-01

    Full Text Available Spondyloepiphyseal dysplasia (SED tarda is a rare disease of which symptoms begin at childhood. It causes shortness of body and extremities, and kyphoscoliosis deformation due to delayed formation of epiphyses. Coexistence of osteopenia and the different types of this disease is also reported. According to our knowledge, the patient having both SED tarda and osteoporosis cured with the antiresorptive agents as well as his follow-up data are presented for the first time in the literature. (Osteoporoz Dünyasından 2006; 12 (1: 18-21

  8. MRI study in spondyloepiphyseal dysplasia tarda with progressive arthropathy

    International Nuclear Information System (INIS)

    Tan Lihua; Liao Eryuan; Xiao Enhua; Ma Cong; Du Wanping; Li Jian

    2005-01-01

    Objective: To study the MRI features and the cartilaginous pathology of the spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA). Methods: MRI of spine, bilateral hips, and knees was taken in 2 cases with clinically and radiographically proven SEDT-PA, who were sister and brother and whose parents were healthy and not inbreeding. The sister's femoral heads were resected bilaterally and the tissues were used for pathological study. Results: MRI showed that the kyphosis and lateroflexion of the spine, and the degenerative signs of the intervertebral discs became more evident along with the growth of the patients. The anterior annular secondary ossification centers of cartilaginous epiphyses of some vertebral bodies didn't appear. So the affected vertebral bodies were like 'inverted vase' or the end p late like 'steps'. Bilateral acetabular cartilage and medial epicondylian cartilaginous epiphyses of the femurs in the young brother showed regional high signal intensity on coronal fat-saturated proton density weighted MR images and degenerative signs on the elder sister. The regional hyperplasia and hypogenesis of the femoral head cartilage could be seen by microscope. Conclusion: There are characteristic features on MRI in SEDT-PA and this is due to the regional hyperplasia and hypogenesis of the cartilage pathologically. (authors)

  9. Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder

    Directory of Open Access Journals (Sweden)

    Sarvesh Kumar Singh

    2016-10-01

    Full Text Available Spondyloepiphyseal dysplasia tarda (SEDT is a rare genetic disease in which patient suffers from short stature, short trunk and neck with disproportionately long arms, coxa vara, skeletal features such as barrel shaped chest, kyphosis, scoliosis and early arthropathy. Only limited medical and surgical management is available in modern medicine. A 15 years old male suffering from SEDT and diagnosed as Vata vyadhi was treated with Panchakarma therapy and selected Ayurvedic oral medicines. Ayurvedic treatment was directed to ameliorate the orthopaedic clinical conditions in this case. Panchakarma procedures such as Shalishastika pinda svedana for a month and Mustadi yapana basti for 16 days were given along with oral Ayurvedic medicines. Same Panchakarma procedures were repeated after an interval of 2 months. A combination of Ayurvedic oral medicines such as Trayodashanga guggulu-500 mg twice a day, Dashmool kvatha (decoction of roots of 10 herbs 40 ml twice a day, Eranda paka 10 g twice a day, Shiva gutika-500 mg twice a day and Dashmoolarista-20 ml (with equal water twice a day were prescribed. Eight scales based Medical outcome study (MOS – 36 item short form – health surveys was assessed for outcome which shows good improvement. Kyphosis, scoliosis and pain were moderately reduced. Clinical experience of this case indicates that Ayurvedic herbs along with Panchakarma can play a major role in the management of hereditary disorder SEDT.

  10. A Rare Form of Corneal Opacity Associated with Spondyloepiphyseal Dysplasia Congenita

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    Yuichiro Ishida

    2018-02-01

    Full Text Available A 13-year-old Japanese female diagnosed with spondyloepiphyseal dysplasia congenita (SEDC was referred for ophthalmologic evaluation. Examination with slit-lamp and optical coherence tomography revealed bilateral thin cornea with diffuse corneal opacity which was localised at the posterior stromal depth in the central cornea. Unlike the two previously reported cases of diffuse and nodular patterns of corneal opacity in SEDC, the current case exhibited a rare form of corneal opacity. SEDC is one of the type II collagenopathies, characterised by dwarfism because the mutations in COL2A1 prevent bone growth. Although the existence of type II collagen has not been reported in the human corneal stroma, the aetiology of the opacity in the corneal stroma in SEDC type II collagenopathy is of interest.

  11. An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Pazzaglia, Ugo E.; Zarattini, Guido [University of Brescia Medical School, Department of Orthopaedics and Traumatology, Brescia (Italy); Beluffi, Giampiero [Fondazione IRCCS Policlinico S. Matteo, Section of Paediatric Radiology, Department of Radiodiagnosis, Pavia (Italy)

    2008-07-15

    We present a child with irregular ossification of tubular bone epiphyses, short bones, and spine. The radiographic evolution of bones undergoing endochondral ossification was followed from the age of 1 year 9 months to 6 years. The unusual features demonstrated in this child made classification difficult: pseudoachondroplasia was excluded because no mutations of the COMP gene were found. Considering the evolution of the radiographic appearances, the most likely diagnosis would seem to be an unusual form of spondyloepiphyseal dysplasia, mimicking some aspects of multiple epiphyseal dysplasia. Endochondral ossification was diffusely altered with a mixture of epiphyseal ossification delay associated with acceleration and early fusion. This case was a unique presentation within the family, suggesting a mutation in the affected child. (orig.)

  12. An unusual form of spondyloepiphyseal dysplasia, with advanced carpal and spinal end-plate ossification mimicking COMP-mutation-like multiple epiphyseal dysplasia

    International Nuclear Information System (INIS)

    Pazzaglia, Ugo E.; Zarattini, Guido; Beluffi, Giampiero

    2008-01-01

    We present a child with irregular ossification of tubular bone epiphyses, short bones, and spine. The radiographic evolution of bones undergoing endochondral ossification was followed from the age of 1 year 9 months to 6 years. The unusual features demonstrated in this child made classification difficult: pseudoachondroplasia was excluded because no mutations of the COMP gene were found. Considering the evolution of the radiographic appearances, the most likely diagnosis would seem to be an unusual form of spondyloepiphyseal dysplasia, mimicking some aspects of multiple epiphyseal dysplasia. Endochondral ossification was diffusely altered with a mixture of epiphyseal ossification delay associated with acceleration and early fusion. This case was a unique presentation within the family, suggesting a mutation in the affected child. (orig.)

  13. Bilateral femoral head dysplasia and osteochondritis. Multiple epiphyseal dysplasia tarda, spondylo-epiphyseal dysplasia tarda, and bilateral Legg-Perthes disease

    Energy Technology Data Exchange (ETDEWEB)

    Andersen, P.E. Jr.; Schantz, K.; Bollerslev, J.; Justesen, P.

    Multiple epiphyseal dysplasia tarda (MEDT) and spondylo-epiphyseal dysplasisa tarda (SEDT) are genetically transmitted conditions affecting the hips, which may resemble bilateral Legg-Perthes disease (LPD). Misdiagnoses are not uncommon, with serious implications for treatment, prognosis and genetic counseling. An epidemiologic study of MEDT and SEDT in a well-defined population of 453 921 persons in Denmark was performed. A population prevalence of 0.7 per 100 000 inhabitants with SEDT and 4.0 per 100 000 inhabitants with MEDT was found. Distinguishing features between MEDT, SEDT and bilateral LPD based on radiologic findings in the hips, other joints, and spine were ascertained. Bilateral LPD is always asymmetric, exhibits patches of increased density in the epiphyses and often metaphyseal cyst-like changes. No spinal lesion or affection of other joints is present, and the acetabula are normal. In MEDT and SEDT the capital femoral epiphyses are symmetrically flattened, fragmented and uniformly slightly sclerotic. Generalised platyspondyly is a constant finding in SEDT.

  14. An RNA-splicing mutation (G{sup +51VS20}) in the Type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita

    Energy Technology Data Exchange (ETDEWEB)

    Tiller, G.E.; Polumbo, P.A. [Vanderbilt Univ. School of Medicine, Nashville, TN (United States); Weis, M.A.; Eyre, D.R. [Univ. of Washington, Seattle, WA (United States); Gruber, H.E.; Rimoin, D.L.; Cohn, D.H. [Cedars-Sinai Medical Center, Los Angeles, CA (United States)]|[Univ. of California School of Medicine, Los Angeles, CA (United States)

    1995-02-01

    Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita (SEDC), Kniest dysplasia, and Stickler syndrome. We have determined that cartilage from a terminated fetus with an inherited form of SEDC contained both normal {alpha}1(II) collagen chains and chains that lacked amino acids 256-273 of the triple-helical domain. PCR amplification of this region of COL2A1, from genomic DNA, yielded products of normal size, while amplification of cDNA yielded a normal sized species and a shorter fragment missing exon 20. Sequence analysis of genomic DNA from the fetus revealed a G{yields}T transversion at position +5 of intron 20; the affected father was also heterozygous for the mutation. Allele-specific PCR and heteroduplex analysis of a VNTR in COL2A1 independently confirmed the unaffected status of a fetus in a subsequent pregnancy. Thermodynamic calculations suggest that the mutation prevents normal splicing of exon 20 by interfering with binding of U{sub 1} small-nuclear RNA to pre-mRNA, thus leading to skipping of exon 20 in transcripts from the mutant allele. Electron micrographs of diseased cartilage showed intracellular inclusion bodies, which were stained by an antibody to {alpha}1(II) procollagen. Our findings support the hypothesis that {alpha}-chain length alterations that preserve the Gly-X-Y repeat motif of the triple helix result in partial intracellular retention of {alpha}1(II) procollagen and produce mild to moderate chondrodysplasia phenotypes. 50 refs., 6 figs., 1 tab.

  15. Spondylo-epiphyseal dysplacea tarda (a case report.

    Directory of Open Access Journals (Sweden)

    Pathare A

    1991-04-01

    Full Text Available A rare case of disproportionate short stature suggestive of spondylo-epiphyseal dysplasia tarda is reported and relevant literature reviewed. It is emphasized that its radiological features show a marked similarity to ochronotic spine, with which it is therefore commonly mistaken. An indeterminate pigment was observed in the liver biopsy in this case with connective tissue disorder.

  16. Progressive pseudorheumatoid dysplasia in North and West Africa ...

    African Journals Online (AJOL)

    Progressive pseudorheumatoid dysplasia is a rare autosomal recessive spondyloepiphyseal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Short stature, joint contractures, gait disturbance, and scoliosis and/or ...

  17. Genetics Home Reference: spondyloepiphyseal dysplasia congenita

    Science.gov (United States)

    ... bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. ... Diseases Health Topic: Connective Tissue Disorders Health Topic: Dwarfism Genetic and Rare Diseases Information Center (1 link) ...

  18. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    DEFF Research Database (Denmark)

    Terhal, Paulien A; Nievelstein, Rutger Jan A J; Verver, Eva J J

    2015-01-01

    -like dysplasia (n = 2). The remaining 13 patients had normal stature with mild SED, Stickler-like syndrome or multiple epiphyseal dysplasia. Over 50% of the patients had undergone orthopedic surgery, usually for scoliosis, femoral osteotomy or hip replacement. Odontoid hypoplasia was present in 56% (95% CI 38......Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological......, and genotypic data in a group of 93 patients with molecularly confirmed SEDC or a related disorder. The majority of the patients (80/93) had short stature, with radiological features of SEDC (n = 64), others having SEMD (n = 5), Kniest dysplasia (n = 7), spondyloperipheral dysplasia (n = 2), or Torrance...

  19. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    NARCIS (Netherlands)

    Terhal, Paulien A.; Nievelstein, Rutger Jan A. J.; Verver, Eva J. J.; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E. H.; Smithson, Sarah F.; Marcelis, Carlo; Kerr, Bronwyn; Clayton-Smith, Jill; Kinning, Esther; Mansour, Sahar; Elmslie, Frances; Goodwin, Linda; van der Hout, Annemarie H.; Veenstra-Knol, Hermine E.; Herkert, Johanna C.; Lund, Allan M.; Hennekam, Raoul C. M.; Mégarbané, André; Lees, Melissa M.; Wilson, Louise C.; Male, Alison; Hurst, Jane; Alanay, Yasemin; Annerén, Göran; Betz, Regina C.; Bongers, Ernie M. H. F.; Cormier-Daire, Valerie; Dieux, Anne; David, Albert; Elting, Mariet W.; van den Ende, Jenneke; Green, Andrew; van Hagen, Johanna M.; Hertel, Niels Thomas; Holder-Espinasse, Muriel; den Hollander, Nicolette; Homfray, Tessa; Hove, Hanne D.; Price, Susan; Raas-Rothschild, Annick; Rohrbach, Marianne; Schroeter, Barbara; Suri, Mohnish; Thompson, Elizabeth M.; Tobias, Edward S.; Toutain, Annick; Vreeburg, Maaike; Wakeling, Emma; Knoers, Nine V.; Coucke, Paul; Mortier, Geert R.

    2015-01-01

    Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological, and genotypic

  20. A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype

    NARCIS (Netherlands)

    Terhal, Paulien A.; Nievelstein, Rutger Jan A. J.; Verver, Eva J. J.; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E. H.; Smithson, Sarah F.; Marcelis, Carlo; Kerr, Bronwyn; Clayton-Smith, Jill; Kinning, Esther; Mansour, Sahar; Elmslie, Frances; Goodwin, Linda; van der Hout, Annemarie H.; Veenstra-Knol, Hermine E.; Herkert, Johanna C.; Lund, Allan M.; Hennekam, Raoul C. M.; Megarbane, Andre; Lees, Melissa M.; Wilson, Louise C.; Male, Alison; Hurst, Jane; Alanay, Yasemin; Anneren, Goeran; Betz, Regina C.; Bongers, Ernie M. H. F.; Cormier-Daire, Valerie; Dieux, Anne; David, Albert; Elting, Mariet W.; van den Ende, Jenneke; Green, Andrew; van Hagen, Johanna M.; Hertel, Niels Thomas; Holder-Espinasse, Muriel; den Hollander, Nicolette; Homfray, Tessa; Hove, Hanne D.; Price, Susan; Raas-Rothschild, Annick; Rohrbach, Marianne; Schroeter, Barbara; Suri, Mohnish; Thompson, Elizabeth M.; Tobias, Edward S.; Toutain, Annick; Vreeburg, Maaike; Wakeling, Emma; Knoers, Nine V.; Coucke, Paul; Mortier, Geert R.

    Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological, and genotypic

  1. Complex orthopaedic management of patients with skeletal dysplasias

    Directory of Open Access Journals (Sweden)

    A. G. Baindurashvili

    2014-01-01

    Full Text Available Skeletal dysplasias are challenging for diagnostics and treatment. We present a series of fifteen patients with different forms of skeletal dysplasias with age ranged from 6 to 17 years with variable clinical presentations managed as a part of the project of scientific cooperation between Turner Paediatric Orthopaedic Institute and Orthopaedic Hospital Vienna-Speising. The spectrum of diagnoses included multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia congenita, diastrophic dysplasia, metaphyseal dysplasia, spondylometaphyseal dysplasia, Stickler syndrome, Kniest dysplasia, and anauxetic dysplasia. Complex treatment, which included axial correction and juxta-articular realignment, was performed as a single-stage, or consecutive surgery. Surgical techniques included corrective osteotomies with internal fixation, guided growth technique and external fixation devices. Best results (full axial correction, normal alignment of the joint were achieved in 8 patients, including 2 patients with metaphyseal dysplasia, 2 patients with multiple epyphyseal dysplasia, 2 patients with spondyloepyphyseal dysplasia, patient with Stickler syndrome and patient with spondylometaphyseal dysplasia. Good results (partial correction at the present time were seen in 4 patients (2 patients with Kniest dysplasia, 1 - with multiple epyphyseal dysplasia and 1 - with anauxetic dysplasia. Satisfactory results (non-progressive condition in previous progression were obtained in 2 patients with diastrophic dysplasia, and poor results (progression of the deformity - in 1 patient with diastrophic dysplasia. Positive results in most of the cases of our series make promising future for usage of complex approach for orthopedic management of children with skeletal dysplasias; advanced international cooperation is productive and helpful for diagnostics and management of rare diseases.

  2. Solar prominences

    CERN Document Server

    Engvold, Oddbjørn

    2015-01-01

    This volume presents the latest research results on solar prominences, including new developments on e.g. chirality, fine structure, magnetism, diagnostic tools and relevant solar plasma physics. In 1875 solar prominences, as seen out of the solar limb, were described by P.A. Secchi in his book Le Soleil as "gigantic pink or peach-flower coloured flames". The development of spectroscopy, coronagraphy and polarimetry brought tremendous observational advances in the twentieth century. The authors present and discuss exciting new challenges (resulting from observations made by space and ground-based telescopes in the 1990s and the first decade of the 21st century) concerning the diagnostics of prominences, their formation, their life time and their eruption along with their impact in the heliosphere (including the Earth). The book starts with a general introduction of the prominence “object” with some historical background on observations and instrumentation. In the next chapter, the various forms of promine...

  3. Ectodermal dysplasias

    Science.gov (United States)

    Anhidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome; Anondontia; Incontinentia pigmenti ... These resources can provide more information on ectodermal dysplasias: Ectodermal Dysplasia Society -- www.ectodermaldysplasia.org National Foundation for ...

  4. Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.

    Science.gov (United States)

    Montané, Lucia Sentchordi; Marín, Oliver R; Rivera-Pedroza, Carlos I; Vallespín, Elena; Del Pozo, Ángela; Heath, Karen E

    2016-06-01

    Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia associated with pain and stiffness of multiple joints, enlargement of the interphalangeal joints, normal inflammatory parameters, and absence of extra-skeletal manifestations. Homozygous or compound heterozygous WISP3 mutations cause PPD. We report two siblings from a non-consanguineous Ecuadorian family with a late-onset spondyloepiphyseal dysplasia. Mutation screening was undertaken in the two affected siblings using a customized skeletal dysplasia next generation sequencing (NGS) panel and confirmed by Sanger sequencing. Two compound heterozygous mutations were identified in WISP3 exon 2, c.[190G>A];[197G>A] (p.[(Gly64Arg)];[(Ser66Asn)]) in the two siblings, both of which had been inherited. The p. (Gly64Arg) mutation has not been previously described whilst the p. (Ser66Asn) mutation has been reported in two PPD families. The two siblings presented with atypical PPD, as they presented during late childhood, yet the severity was different between them. The progression was particularly aggressive in the male sibling who suffered severe scoliosis by the age of 13 years. This case reaffirms the clinical heterogeneity of this disorder and the clinical utility of NGS to genetically diagnose skeletal dysplasias, enabling adequate management, monitorization, and genetic counseling. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  5. Kidney Dysplasia

    Science.gov (United States)

    ... whose mothers used certain prescription medications or illegal drugs during pregnancy What are the signs of kidney dysplasia? Many ... the use of certain prescription medications or illegal drugs during pregnancy. Pregnant women should talk with their health care ...

  6. Thanatophoric Dysplasia: A Rare Entity

    Directory of Open Access Journals (Sweden)

    N.S. Naveen

    2011-05-01

    Full Text Available Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. The child will be having a short neck, narrow thoracic cage and protuberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, prominent eyes, hypertelorism and the depressed nasal bridge. The diagnosis is usually made with the ultrasonography in the second trimester. In this study we report a case of this rare entity with emphasis on its anatomical features, abnormalities and clinical profile with relevant review of literature.

  7. Ectodermal dysplasia

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    Sonia Saggoo

    2009-01-01

    Full Text Available Hereditary hypohidrotic ectodermal dysplasia, also called the Christ-Siemens-Touraine Syndrome is characterized by congenital dysplasia of one or more ectodermal structures and is manifested by hypohidrosis, hypotrichosis and hypodontia. It is usually an X-linked recessive mendelian character which is rarely seen in males. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Patients with this disorder exhibit smooth , thin and dry skin, fine and blond scanty hair. Intra-orally anodontia or hypodontia, with impaired development of alveolar process is seen. A case report of a rare case of this disorder in a female patient aged 18 years is hereby presented.

  8. Sponastrime dysplasia

    International Nuclear Information System (INIS)

    Lachman, R.S.; California Univ., Los Angeles, Torrance, CA; Stoss, H.; Spranger, J.

    1989-01-01

    The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.)

  9. Pseudoachondroplastic dysplasia.

    Directory of Open Access Journals (Sweden)

    Khungar A

    1993-04-01

    Full Text Available Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. We report here a case of a 7 year old girl misdiagnosed as rickets, who presented with short stature, lordosis, genu varum and flexion deformities at both the elbows. Skeletal survey revealed epiphyseal and metaphyseal irregularities. A review of literature is also presented.

  10. Frontofacionasal Dysplasia

    African Journals Online (AJOL)

    rme

    226. Frontofacionasal Dysplasia: Another Observation eye. Other ocular features include small eyes, iris colobomas and cataracts. A frontally situated lipoma, causing a swelling at the nasion, was reported in one patient and an encephalocele has been described.3. Mental retardation has been reported in one patient with.

  11. The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

    Science.gov (United States)

    Barat-Houari, Mouna; Dumont, Bruno; Fabre, Aurélie; Them, Frédéric Tm; Alembik, Yves; Alessandri, Jean-Luc; Amiel, Jeanne; Audebert, Séverine; Baumann-Morel, Clarisse; Blanchet, Patricia; Bieth, Eric; Brechard, Marie; Busa, Tiffany; Calvas, Patrick; Capri, Yline; Cartault, François; Chassaing, Nicolas; Ciorca, Vidrica; Coubes, Christine; David, Albert; Delezoide, Anne-Lise; Dupin-Deguine, Delphine; El Chehadeh, Salima; Faivre, Laurence; Giuliano, Fabienne; Goldenberg, Alice; Isidor, Bertrand; Jacquemont, Marie-Line; Julia, Sophie; Kaplan, Josseline; Lacombe, Didier; Lebrun, Marine; Marlin, Sandrine; Martin-Coignard, Dominique; Martinovic, Jelena; Masurel, Alice; Melki, Judith; Mozelle-Nivoix, Monique; Nguyen, Karine; Odent, Sylvie; Philip, Nicole; Pinson, Lucile; Plessis, Ghislaine; Quélin, Chloé; Shaeffer, Elise; Sigaudy, Sabine; Thauvin, Christel; Till, Marianne; Touraine, Renaud; Vigneron, Jacqueline; Baujat, Geneviève; Cormier-Daire, Valérie; Le Merrer, Martine; Geneviève, David; Touitou, Isabelle

    2016-07-01

    Heterozygous COL2A1 variants cause a wide spectrum of skeletal dysplasia termed type II collagenopathies. We assessed the impact of this gene in our French series. A decision tree was applied to select 136 probands (71 Stickler cases, 21 Spondyloepiphyseal dysplasia congenita cases, 11 Kniest dysplasia cases, and 34 other dysplasia cases) before molecular diagnosis by Sanger sequencing. We identified 66 different variants among the 71 positive patients. Among those patients, 18 belonged to multiplex families and 53 were sporadic. Most variants (38/44, 86%) were located in the triple helical domain of the collagen chain and glycine substitutions were mainly observed in severe phenotypes, whereas arginine to cysteine changes were more often encountered in moderate phenotypes. This series of skeletal dysplasia is one of the largest reported so far, adding 44 novel variants (15%) to published data. We have confirmed that about half of our Stickler patients (46%) carried a COL2A1 variant, and that the molecular spectrum was different across the phenotypes. To further address the question of genotype-phenotype correlation, we plan to screen our patients for other candidate genes using a targeted next-generation sequencing approach.

  12. Mondini dysplasia

    International Nuclear Information System (INIS)

    Takeda, Taizo; Kakigi, Akinobu; Takeuchi, Shunji; Saito, Haruo

    1992-01-01

    Recent advances in imaging technique, including high resolution thin section computed tomography scanning and magnetic resonance imaging (MRI), permit the easy diagnosis of congenital malformations of the osseous labyrinth, which have so far been lumped together as 'Mondini dysplasia'. In the present study, the anatomic patterns from the radiogrpahic appearance and the clinical manifestation were examined in 18 patients (23 ears) with radiographic abnormalities of the inner ear. The most common abnormal configuration was a large vestibule (20 of 23 ears). This anomaly of the vestibule often involved the lateral semicircular canal, revealed as a round high signal zone on T2-weighted MRI. However, a large vestibule was not always associated with an abnormal cochlea. Abnormal cochleas were found in 8 of the 20 ears with a large vestibule, and most of these 8 ears had total or profound deafness. But 4 of the 10 ears with residual hearing had low tone deafness and 6 had fluctuating hearing loss, which was frequently associated with attacks of dizziness. These clinical manifestations of Mondini dysplasia are similar to those of patients with endolymphatic hydrops. (author)

  13. Thanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly

    Directory of Open Access Journals (Sweden)

    Maria Francis Yuvaraj

    2017-01-01

    Full Text Available The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dysplasia is death bearing which is derived from Greek word. It occurs 1in 20,000 to 50,000. It is mainly due to mutations in the fibroblast growth factor receptor 3gene. Features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. The knowledge about this condition is useful in the fields of Anatomy, Paediatrics, Obstetrics and Gynaecology, Ultrasonagraphy and Genetics, for future research purpose.

  14. Oculodentodigital dysplasia

    Directory of Open Access Journals (Sweden)

    Dharmil C Doshi

    2016-01-01

    Full Text Available Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene. It has been diagnosed in fewer than 300 people worldwide with an incidence of around 1 in 10 million. It affects many parts of the body, particularly eyes (oculo, teeth (dento, and fingers and/or toes (digital. The common clinical features include facial dysmorphism with thin nose, microphthalmia, syndactyly, tooth anomalies such as enamel hypoplasia, anodontia, microdontia, early tooth loss and conductive deafness. Other less common features are abnormalities of the skin and its appendages, such as brittle nails, sparse hair, and neurological abnormalities. To prevent this syndrome from being overlooked, awareness of possible symptoms is necessary. Early recognition can prevent blindness, dental problems and learning disabilities. Described here is the case of a 21-year-old male who presented to the ophthalmology outpatient department with a complaint of bilateral progressive loss of vision since childhood.

  15. Spondylometaphyseal dysplasia with hypercalcemia

    International Nuclear Information System (INIS)

    Bagga, A.; Srivastava, R.N.; Gupta, S.; Gupta, A.

    1989-01-01

    Kozlowski's spondylometaphyseal dysplasia is characterised by short-trunk dwarfism, platyspondyly, metaphyseal dysplasia and retarded bone age. We report an association of this syndrome with asymptomatic, hypocalciuric hypercalcemia, a previously undocumented finding. (orig.)

  16. Asphyxiating thoracic dysplasia

    International Nuclear Information System (INIS)

    Franzcr, J.; Kozlowski, K.

    2008-01-01

    Asphyxiating Thoracic Dysplasia is the most frequent form of Small Thorax - Short Rib Syndromes. Asphyxiating Thoracic Dysplasia in two patients with different clinical course is reported. Radiographic examination is the only method to diagnose Asphyxiating Thoracic Dysplasia with certainty. The correct diagnosis is important for prognostication and genetic counseling. It also excludes the necessity of further, often expensive investigations. (author)

  17. Fibromuscular dysplasia

    Directory of Open Access Journals (Sweden)

    Jeunemaitre Xavier

    2007-06-01

    Full Text Available Abstract Fibromuscular dysplasia (FMD, formerly called fibromuscular fibroplasia, is a group of nonatherosclerotic, noninflammatory arterial diseases that most commonly involve the renal and carotid arteries. The prevalence of symptomatic renal artery FMD is about 4/1000 and the prevalence of cervicocranial FMD is probably half that. Histological classification discriminates three main subtypes, intimal, medial and perimedial, which may be associated in a single patient. Angiographic classification includes the multifocal type, with multiple stenoses and the 'string-of-beads' appearance that is related to medial FMD, and tubular and focal types, which are not clearly related to specific histological lesions. Renovascular hypertension is the most common manifestation of renal artery FMD. Multifocal stenoses with the 'string-of-beads' appearance are observed at angiography in more than 80% of cases, mostly in women aged between 30 and 50 years; they generally involve the middle and distal two-thirds of the main renal artery and in some case also renal artery branches. Cervicocranial FMD can be complicated by dissection with headache, Horner's syndrome or stroke, or can be associated with intracerebral aneurysms with a risk of subarachnoid or intracerebral hemorrhage. The etiology of FMD is unknown, although various hormonal and mechanical factors have been suggested. Subclinical lesions are found at arterial sites distant from the stenotic arteries, and this suggests that FMD is a systemic arterial disease. It appears to be familial in 10% of cases. Noninvasive diagnostic tests include, in increasing order of accuracy, ultrasonography, magnetic resonance angiography and computed tomography angiography. The gold standard for diagnosing FMD is catheter angiography, but this invasive procedure is only used for patients in whom it is clinically pertinent to proceed with revascularization during the same procedure. Differential diagnosis include

  18. Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia

    International Nuclear Information System (INIS)

    Agarwal, Prachi Pragya; Srinivasan, Ashok; Sharma, Raju; Gupta, Arun Kumar; Kabra, Madhulika

    2003-01-01

    A rare case of spondylo-megaepiphyseal-metaphyseal dysplasia is reported in a 10-year-old boy. The features were metaphyseal dysplasia, markedly defective ossification of vertebral body centres and enlarged epiphyses. Although it shares some features with spondylo-metaphyseal dysplasia, oto-spondylo-megaepiphyseal dysplasia and cleidocranial dysplasia, the presence of several unusual radiological findings sets it apart. (orig.)

  19. Brandburg Prominance, Namibia, Africa

    Science.gov (United States)

    1993-01-01

    The Brandburg Prominance, Namibia (21.0S, 14.5E) is a round basaltic plug and is the highest feature (over 8,000 ft) in the country. Wind streaks on the surface of the coastal desert, aligned northeast to southwest, are the result of frequent sand storms. Coastal stratus clouds provide most of the life supporting moisture as fog droplets in this arid land where annual rainfall may be less than a quarter of an inch for decades at a time.

  20. Genetics Home Reference: boomerang dysplasia

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Boomerang dysplasia Boomerang dysplasia Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Boomerang dysplasia is a disorder that affects the development ...

  1. Progressive pseudorheumatoid dysplasia misdiagnosed as ...

    African Journals Online (AJOL)

    Progressive pseudorheumatoid dysplasia misdiagnosed as seronegative juvenile idiopathic arthritis. Ozgur Taspinar, Fatih Kelesoglu, Yasar Keskin, Murat Uludag. Abstract. Background: Progressive pseudorheumatoid dysplasia (PPD) is a rare spondylo- epi-metaphyseal dysplasia (SEMD). It can be confused with juvenile ...

  2. TREATMENT OF HIP DYSPLASIA

    OpenAIRE

    Iulian ICLEANU; Mariana CORDUN

    2015-01-01

    In this thesis, our purpose is to show that using physiotherapy on patients with hip dysplasia from the very beginning, in the first months of life, helps treating them faster. Common literature proposes to use physiotherapy on patients with hip dysplasia either after their recovery or in the terminal phase of recovery, claiming that any earlier intervention will prolong the hip recovery. The effects of hip dysplasia reflect over the whole musculoskeletal system, while it hinders the knees (g...

  3. Formation and support of prominence

    International Nuclear Information System (INIS)

    Forbes, T.G.

    1986-01-01

    A short introduction is given to the concepts discussed by the group on the formation and support of prominences. Only quiescent and long-lived active region prominences were considered, since transient prominence phenomena, such as sprays, surges, H alpha flare-loops, and coronal rain, are dynamically distinct from long-lived, prominences. Stable prominences (which are often referred to as filaments when seen against the disk) can be subdivided into three categories, namely active region prominences, quiescent prominences and polar crown prominences. The third category is closely related to the second since a quiescent prominence will eventually evolve into a polar crown prominence if it lasts long enough. The distinction between the first and second categories is not sharp either since intermediates exist here as well (Martin, 1973)

  4. Genetics Home Reference: osteoglophonic dysplasia

    Science.gov (United States)

    ... 1 link) Genetic Testing Registry: Osteoglophonic dysplasia Other Diagnosis and Management Resources (1 link) Seattle Children's Hospital: Dwarfism and Bone Dysplasias General Information from MedlinePlus (5 ...

  5. Solar Features - Prominences and Filaments

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Prominences and filaments are two manifestations of the same phenomenon. Both prominences and filaments are features formed above the chromosphere by cool dense...

  6. Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

    Science.gov (United States)

    Nkrumah, F K

    1971-03-01

    A case of Goldenhar's Syndrome or Oculoauriculovertebral dysplasia in a Ghanaian infant is described. Significant were the additional findings of congenital esophageal atresia and arthrogryposis which have so far not been reported in association with the syndrome.

  7. Gracile bone dysplasias

    International Nuclear Information System (INIS)

    Kozlowski, Kazimierz; Masel, John; Sillence, David O.; Arbuckle, Susan; Juttnerova, Vera

    2002-01-01

    Gracile bone dysplasias constitute a group of disorders characterised by extremely slender bones with or without fractures. We report four newborns, two of whom showed multiple fractures. Two babies had osteocraniostenosis and one had features of oligohydramnios sequence. The diagnosis in the fourth newborn, which showed thin long bones and clavicles and extremely thin, poorly ossified ribs, is uncertain. Exact diagnosis of a gracile bone dysplasia is important for genetic counselling and medico-legal reasons. (orig.)

  8. Ectodermal dysplasia (ED) syndrome.

    Science.gov (United States)

    Chee, Siew-Yin; Wanga, Chung-Hsing; Lina, Wei-De; Tsaia, Fuu-Jen

    2014-01-01

    Ectodermal dysplasia (ED) syndrome comprises a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from the embryonic ectoderm. The tissues primarily involved are the skin and its appendages (including hair follicles, eccrine glands, sebaceous glands, nails) and teeth. The clinical features include sparse hair, abnormal or missing teeth, and an inability to sweat due to lack of sweat glands. One such case report of ectodermal dysplasia is presented here.

  9. Gracile bone dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, Kazimierz [Department of Medical Imaging, The Children' s Hospital at Westmead, Locked Bag 4001, Westmead 2145, NSW (Australia); Masel, John [Department of Radiology, Royal Children' s Hospital, Brisbane (Australia); Sillence, David O. [Department of Paediatrics and Child Health, The University of Sydney (Australia); Arbuckle, Susan [Department of Anatomical Pathology, The Children' s Hospital at Westmead, NSW (Australia); Juttnerova, Vera [Oddeleni Lekarske Genetiky, Hradec Kralove (Czech Republic)

    2002-09-01

    Gracile bone dysplasias constitute a group of disorders characterised by extremely slender bones with or without fractures. We report four newborns, two of whom showed multiple fractures. Two babies had osteocraniostenosis and one had features of oligohydramnios sequence. The diagnosis in the fourth newborn, which showed thin long bones and clavicles and extremely thin, poorly ossified ribs, is uncertain. Exact diagnosis of a gracile bone dysplasia is important for genetic counselling and medico-legal reasons. (orig.)

  10. Mandibulo-acral dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Hoeffel, J.C.; Mainard, L. [Dept. of Radiology, Children' s Hospital, Vandoeuvre (France); Chastagner, P. [Dept. of Medicine, Children' s Hospital, Vandoeuvre (France); Hoeffel, C.C. [UFR Faculte de Medecine Cochin, Paris (France)

    2000-11-01

    We report on a 7 year-old-girl with mandibulo-acral dysplasia. When she was 3 years of age it mimicked scleroderma because of skin atrophy and later on a Hutchinson-Gilford progeria syndrome (HGP). Acro-mandibular dysplasia was diagnosed because of facial hypoplasia and mandibular hypoplasia. The bilateral proximal mid-humeral notch seen in this case is unusual. (orig.)

  11. New perspectives on solar prominences

    Science.gov (United States)

    Schmieder, B.; Aulanier, G.

    2012-06-01

    Recent observations of prominences obtained with high spatial and temporal resolution instruments, on board satellites (Hinode, SDO) as well as on the ground (SST) have provided very intriguing movies and open a new area for understanding the nature of prominences. The main topics are still debate: formation, dynamics, and characteristics of the plasma in the core and in the transition zone between the prominence and corona. We will review briefly the recent advances made in these topics, observationally as well as theoretically.

  12. A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family

    DEFF Research Database (Denmark)

    Xiao, Cuiying; Zhang, Sizhong; Wang, Jun

    2003-01-01

    . The distinctive radiological signs and the X-linked mode of inheritance make it easy to diagnose. Here a four-generation Chinese SEDT family has been analyzed and the disease-causing mutation has been found. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA...... sequencing, a previously unreported deletion of T in exon 5 of SEDL gene (i.e. 293delT) was observed and seven individuals in the family carried the mutation. It results in frameshift and a putative truncated protein with the 97 N-terminal amino acids, and 9 changed amino acids. Therefore, loss of function...

  13. Cloverleaf skull with generalised bone dysplasia

    International Nuclear Information System (INIS)

    Kozlowski, K.; Warren, P.S.; Fisher, C.C.; Royal Hospital for Women, Camperdown

    1985-01-01

    A case of cloverleaf skull with generalised bone dysplasia is reported. The authors believe that bone dysplasia associated with cloverleaf is neither identical with thanatophoric dysplasia nor achondroplasia. Until identity of thanatophoric dysplasia and cloverleaf skull with generalised bone dysplasia is proved the diseases should be looked upon as separate entities and the wording ''thanatophoric dysplasia with cloverleaf skull'' should be abolished. (orig.)

  14. Trochleoplasty in major trochlear dysplasia: current concepts

    Directory of Open Access Journals (Sweden)

    Beaufils Philippe

    2012-02-01

    Full Text Available Abstract Trochleoplasty is the theoretical solution to persistent symptoms (pain and/or instability related to trochlear dysplasia where there is not only a trochlear flatness but also a trochlear prominence. The threshold of prominence indicating surgical intervention has as yet not been determined. A bump of 5 mm is generally accepted as the inferior limit. Given the interventional nature of this demanding procedure, it should be proposed in selected cases after considerable discussion with the patient. Trochleoplasty is indicated as a primary procedure for major trochlear dysplasia with a prominence > 5 mm. Stabilization is obtained in most of the cases with the risk of residual mild anterior knee pain. It is also indicated as a salvage procedure when a previous surgery failed. Despite the reputation of the procedure, the published results are encouraging in terms of prevention of re-dislocation, satisfaction index, and radiological outcomes. Post-operative stiffness is the main complication, which may require manipulation under anaesthesia or arthroscopic arthrolysis. There are few other complications reported and to date secondary necrosis of the trochlea has not been reported. Technically speaking, the deepening trochleoplasty is a difficult procedure without reliable landmarks. We propose a recession wedge trochleoplasty which is an easier procedure. It is never undertaken as an isolated procedure, but always in conjunction with other realignment procedures of the extensor apparatus according to the "a la carte" surgery concept.

  15. Genetics Home Reference: thanatophoric dysplasia

    Science.gov (United States)

    ... thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 2010 Jan;152A( ... of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon ...

  16. TREATMENT OF HIP DYSPLASIA

    Directory of Open Access Journals (Sweden)

    Iulian ICLEANU

    2015-11-01

    Full Text Available In this thesis, our purpose is to show that using physiotherapy on patients with hip dysplasia from the very beginning, in the first months of life, helps treating them faster. Common literature proposes to use physiotherapy on patients with hip dysplasia either after their recovery or in the terminal phase of recovery, claiming that any earlier intervention will prolong the hip recovery. The effects of hip dysplasia reflect over the whole musculoskeletal system, while it hinders the knees (genu valgum, the ankles (ankle valgus, calcaneal valgus and the spine (scoliosis especially at the lumbar level. The most spectacular are at the hip level, that is why we made an analytical evaluation only for this joint. To show the importance of physiotherapy for children with hip dysplasia we started from the hypothesis: untimely treatment for children with hip dysplasia has improved results in functional recovery and in obtaining a better stability, without the necessity of orthopedics or surgical interventions. The research methods used in this study are: the observation method, the bibliographic study method, the experimental method, the graphics method and the statistical mathematical method to process the data and to represent the results graphically. In the end, the results obtained are significantly different from the initial evaluations and we came to the conclusion that starting an untimely analytical kinetic treatment and globally personalizing it to every patient improves stability and biomechanical parameters for the hip.

  17. Camptomelic dysplasia: A case report

    Directory of Open Access Journals (Sweden)

    Koš Radmila

    2007-01-01

    Full Text Available Campomelic/camptomelic dysplasia is a very rare, severe osteochondrodysplasia characterised by severe skeletal and nonskeletal malformations and lethal outcome mainly in neonatal period. Characteristic abnormality by which the syndrome got its name is short, bowed long bones of lower extremities, most often of femur, manifested by short and bowed legs. Skin dimpling on tibial anterior side is another prominent characteristic of this syndrome. Severe cases are inherited by autosomal dominant trait, by mutation Sox9 gene on chromosome 17, with lethal outcome in the first days of life. Less severe forms of the disease are due to balanced translocation t (13;17 with life span up to the third decade of life. A majority of karyotypic males present as phenotypic females. We report a case of a female neonate, without consanguinity between parents, with characteristic signs of camptomelic dysplasia with short birth length of 46 cm, macrocephaly (head circumference 39 cm, dolichocephaly, hydrocephalus, short trunk and legs. Narrow rib cage, bowed lower extremities, short hand and foot phalanges, nail hypoplasia were noticed. Anterior fontanelle was enlarged, high forehead, face small and flat, hypertelorism, low nasal bridge, micrognathia, low set ears, cleft palate, were found. Characteristic skin dimpling on anterior side of tibia was present on both legs. Bone X-ray studies presented the following changes: anterior bowing of shortened femurs, hip dislocation, cervical vertebrae, scapulas, eleven pairs of slender ribs. Hip luxation. Karyotype was normal for a female, 46 XX. Respiratory insufficiency was present since birth, exacerbated, and led to lethal outcome in the second day of life, as described in the majority of these patients. .

  18. Hypohidrotic ectodermal dysplasia: a clinical case with a longitudinal approach.

    Science.gov (United States)

    Fraiz, Fabian Calixto; Gugisch, Renato Cordeiro; Cavalcante-Leão, Bianca Lopes; Macedo, Liliane Moreira

    2014-11-01

    This paper describes a clinical case of a male with hypohidrotic ectodermal dysplasia submitted to rehabilitation and occlusal dental interventions with follow-up from 3 to 14 years of age. Due to the severe effects on function and esthetics, the clinical manifestations of ectodermal dysplasia exert a negative impact on quality of life. However, oral rehabilitation in childhood poses a challenge due to growth and development. A male with hypohidrotic ectodermal dysplasia began dental intervention at the age of 3 years. The clinical and radiographic exams revealed the absence of several primary and permanent teeth and abnormal shape of the primary maxillary incisors. The facial characteristics were compatible with hypohidrotic ectodermal dysplasia, such as a prominent brow, everted lips, fattened bridge of the nose and small vertical facial height. The treatment proposed involved rehabilitation through successive temporary partial dentures, functional orthopedics of the jaws, esthetic reconstruction of the anterior teeth, timely occlusal intervention and preventive actions for the control of dental caries and plaque. The present case demonstrates that early care plays a fundamental role in minimizing the biopsychosocial consequences of hypohidrotic ectodermal dysplasia and preparing the patient for future oral rehabilitation. Although, the literature offers a number of papers describing dental treatment for ectodermal dysplasia, few cases include long-term follow-up and the use of a functional orthopedic appliance in combination with removable dentures in such patients.

  19. Prenatal diagnosis of boomerang dysplasia.

    Science.gov (United States)

    Wessels, Marja W; Den Hollander, Nicolette S; De Krijger, Ronald R; Bonifé, Luisa; Superti-Furga, Andrea; Nikkels, Peter G; Willems, Patrick J

    2003-10-01

    Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton. Typical symptoms include micromelia with diminished ossification, and a characteristic bowed and boomerang-like aspect of the long tubular bones. We report here a new case of boomerang dysplasia, which was detected prenatally in the 16th week of gestation by ultrasound. Copyright 2003 Wiley-Liss, Inc.

  20. Meyer's dysplasia epiphysealis

    International Nuclear Information System (INIS)

    Toro P, Alvaro de Jesus; Lopez C, Meisser A

    2005-01-01

    The skeletal dysplasias are a group of heterogeneous conditions since the clinical and genetic point of view, that to date they are about 200 different disorders. They have as common denominator an inconvenience of the normal process of growth and development of the bony weaving and their cartilaginous precursors. In this article the case of an adolescent of 16 years is presented with Meyer's dysplasia epiphysealis whose diagnostic was delayed and that as opposed to the cases reported in the literature required surgical treatment due to the persistent symptoms, and the literature is reviewed

  1. Dental abnormalities and preventive oral care in Schimke immuno-osseous dysplasia.

    Science.gov (United States)

    Gendronneau, M; Kérourédan, O; Taque, S; Sixou, J L; Bonnaure-Mallet, M

    2014-06-01

    Schimke immuno-osseous dysplasia (SIOD) is a rare, severe, autosomal recessive disorder that results in spondyloepiphyseal dysplasia, renal dysfunction, immunodeficiency, facial dysmorphism and growth failure. Little is known about oral features associated with SIOD. Some of the dental anomalies encountered are specific to SIOD and have only been reported in individuals with SIOD. This paper describes the clinical and radiographic dental manifestations of SIOD in two Caucasian brothers. Both lived to be about 10 years old. After a variety of symptoms were reported, a diagnosis of SIOD was finally made when the brothers were, respectively, 5 and 8 years old. At that time, dental anomalies, such as dyschromia, bulbous crowns, short and thin roots, had not been taken into account to establish the diagnosis. However, knowledge of the dental features characteristic of this disease could have helped make the diagnosis. Although both were caries- and periodontal disease-free, special attention was focused on prevention, including dietary counselling, plaque control, oral hygiene instructions and the use of fluoridated toothpaste. The two patients were followed every 6 months, for over 2 years (until their death), by both a private dentist and a university hospital dentist, which helped them maintain good oral health. Oral hygiene was assessed at each appointment and fissure sealants were placed by the private practitioner on their first permanent molars. This report describes dental anomalies specific to SIOD that could facilitate diagnosis. Clinicians and dentists should work in collaboration to diagnose and treat children with SIOD. These patients require regular and specific dental management because of their fragile health and their characteristic dental anomalies. Ideally, preventive visits should be scheduled every 6 months in addition to curative visits as needed.

  2. REHABILITASI PASIEN GIGI TIRUAN PENUH DENGAN EKTODERMAL DYSPLASIA (LAPORAN KASUS

    Directory of Open Access Journals (Sweden)

    Susi R. Puspita Dewi

    2015-07-01

    Full Text Available Ectodermal dysplasia is a rare congenital disease that affects several ectodermal structures. This disease is usually transmitted as an x-linked recessive trait in which the gene is carried by female and manifested in male. The orofacial characteristics of ectodermal dysplasia include anodontia or hypodontia, congenital teeth, underdevelopment of alveolar ridges and it is not uncommon for the face of an affected child to take on the appearance characteristic of old age, a prominent forehead, protuberant lips, a depressed nasal bridge, hypotricosis, and hypohidrosis. The treatment to manage orogacial disfigurement may afford the patient some measure of confidence, esthetics, function and speech. This case report describes the diagnosis and treatment of ectodermal dysplasia in an 18 year patient. The treatment included removable complete denture.

  3. Ectodermal Dysplasia: A Case Report

    Science.gov (United States)

    2011-01-01

    Ectodermal dysplasia is a hereditary disease characterized by dysplasia of tissues of ectodermal origin. The incidence of ectodermal dysplasia is rare (1 in 100,000 birth). This case report discusses the features, classification and prosthetic treatment plan (upper partial denture and lower complete denture for upper partial and lower complete edentulous arches respectively). This treatment plan would be able to provide psychological and functional boost to the sufferer. PMID:27678241

  4. Familial ectodermal dysplasia: a peers' agony.

    Science.gov (United States)

    Hegde, Karthik; Kashyap, Roopashri Rajesh; Nair, Gopakumar; Nair, Preeti P

    2013-07-23

    Ectodermal dysplasias include a various group of inherited disorders which share primary defect in the development of two or more tissues of embryonic ectodermal origin. Though there are many subtypes, ectodermal dysplasias are mainly hidrotic ectodermal dysplasia and hypohidrotic ectodermal dysplasia, among which the most common variety is X linked hypohidrotic ectodermal dysplasia. We report a rare case of X linked hypohidrotic ectodermal dysplasia occurring in a family with various skin, hair and oral abnormalities.

  5. Cloverleaf skull with generalised bone dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Kozlowski, K.; Warren, P.S.; Fisher, C.C.

    1985-09-01

    A case of cloverleaf skull with generalised bone dysplasia is reported. The authors believe that bone dysplasia associated with cloverleaf is neither identical with thanatophoric dysplasia nor achondroplasia. Until identity of thanatophoric dysplasia and cloverleaf skull with generalised bone dysplasia is proved the diseases should be looked upon as separate entities and the wording ''thanatophoric dysplasia with cloverleaf skull'' should be abolished.

  6. The most prominent safety guarantees

    International Nuclear Information System (INIS)

    Lucenet, G.

    1978-01-01

    The Creys-Malville Nuclear Centre has been designed using the safety analysis implemented since the beginning of the developments of breeder reactors in France and the Super Phenix follows almost the same safety regulations as its predecessor the Phenix reactor. These regulations are based on: 'Recommendations for the safety standards of the Super Phenix' drawn up by the French Safety Authorities in July 1973. The prominent points are summarised. (C.F.)

  7. Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features

    Energy Technology Data Exchange (ETDEWEB)

    Miller, S.F. [Dept. of Radiology, Children' s Hospital of the King' s Daughters, Norfolk (United States); Proud, V.K. [Dept. of Genetics, Children' s Hospital of the King' s Daughters, Norfolk (United States); Werner, A.L. [Dept. of Pathology, Children' s Hospital of the King' s Daughters, Norfolk (United States); Field, F.M.; Wilcox, W.F.; Lachman, R.S.; Rimoin, D.L. [International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles (United States)

    2003-04-01

    Background: Punctate or stippled cartilaginous calcifications are associated with many conditions, including chromosomal, infectious, endocrine, and teratogenic etiologies. Some of these conditions are clinically mild, while others are lethal. Accurate diagnosis can prove instrumental in clinical management and in genetic counseling. Objective: To describe the diagnostic radiographic features seen in Pacman dysplasia, a distinct autosomal recessive, lethal skeletal dysplasia. Materials and methods: We present the fourth reported case of Pacman dysplasia and compare the findings seen in our patient with the three previously described patients. Results: Invariable and variable radiographic findings were seen in all four cases of histologically proven Pacman dysplasia. Conclusion: Pacman dysplasia presents both constant and variable diagnostic radiographic features. (orig.)

  8. Fibrous dysplasia of bone

    International Nuclear Information System (INIS)

    Kim, Kyung Soo; Lee, Sang Wook; Cho, Young Jun; Kim, Young Sook

    1983-01-01

    Fibrous dysplasia of bone is a skeletal development anomaly of unknown etiology characterized by single or multiple areas of fibrous tissue replacement of medullary cavity of one or more bones. The disease may be localized to single bone (monostotic form) or may affect multiple bones (polyostotic form). Eighteen cases of fibrous dysplasia diagnosed by roentgenlogic or histologic assessment at Chosun University Hospital, Chosun University Hospital and Kwangju Christian Hospital during recent ten tears were analyzed clinically and radiologically. The results were as follows: 1. 16 case of them had monostotic involvement, and 2 cases showed polyostotic disease, but none of our series presented Albright's syndrome. 2. The male to female ratio in this series was 10 : 8, but then 2 polyostotic forms of them were females. In age distribution, peak incidence at the time of diagnosis was in the age group of second decade (10 cases). 3. Maxilla (6 cases) and femur (4 case) were frequently involved sites in patients with monostotic lesion, whereas polyostotic lesions diffusely affected skull, pelvis, ribs and limb bones. 4. The clinical symptoms according to the extent and site of disease were very variable, which were localized painless or painful swelling, nasal obstruction, deformity of face or extremity and incidentally during routine roentgen study. 5. The chemical abnormality of blood serum was moderate degree of elevated serum alkaline phosphatase in only one patients with monostotic lesion. 6. The main radiologic findings of fibrous dysplasia were relatively well circumscribed single or multiloculated cystilike appearance, bone expansion, cortical thinning and/or erosion, bony deformity and pathologic fracture, but especially in maxilla, dense homogenous area with expanding lesion was observed in our series

  9. Keratoprosthesis in Ectodermal Dysplasia.

    Science.gov (United States)

    Wozniak, Rachel A F; Gonzalez, Mithra; Aquavella, James V

    2016-07-01

    To describe the complex surgical management and novel medical approach for a keratoprosthesis (KPro Boston type I) in a monocular, 73-year-old patient with ectodermal dysplasia and chronic, noninfectious corneal necrosis. Best-corrected visual acuity (BCVA) was measured with Snellen letters. Surgical intervention included an amniotic membrane graft, complete replacement of the KPro, conjunctival flap graft, corneal donor tissue grafts combined with inferior rectus muscle advancement, periosteal tissue graft, tarso-conjunctival flap construction, and symblepharolysis. Infliximab was used as a medical adjunctive therapy. Initial KPro placement provided a BCVA of 20/25 and long-term stability. Subsequent chronic melting at the optic border necessitated numerous surgeries to prevent extrusion and failure. Ultimate fistulization was addressed with the formation of a surgical pocket. The addition of infliximab promoted ocular surface stability, and the patient has maintained a BCVA of 20/80. Ectodermal dysplasia can result in eyelid and corneal abnormalities, requiring a KPro for visual restoration. In the setting of chronic, sterile corneal melt, novel surgical approaches and the off-label use of infliximab allowed for visual rehabilitation.

  10. Displasia broncopulmonar Bronchopulmonary dysplasia

    Directory of Open Access Journals (Sweden)

    Luciana F. Velloso Monte

    2005-04-01

    Full Text Available OBJETIVO: Apresentar uma ampla revisão da literatura sobre displasia broncopulmonar, abordando novas definições, fisiopatologia, prevenção, tratamento, prognóstico e evolução. FONTE DOS DADOS: Foram selecionados os artigos mais relevantes sobre o tema, desde a sua descrição inicial, em 1967, pesquisados na MEDLINE. SÍNTESE DOS DADOS: A displasia broncopulmonar é considerada uma das principais causas de doença pulmonar crônica em lactentes. Está associada a hospitalizações freqüentes e prolongadas, especialmente por doenças pulmonares, altos índices de mortalidade e alterações no desenvolvimento neuropsicomotor e no crescimento pôndero-estatural. A patogênese é complexa e influenciada principalmente por prematuridade, infecção, oxigênio suplementar e ventilação mecânica. A prevenção envolve o acompanhamento pré-natal adequado, a prevenção do parto prematuro, o uso pré-natal do corticosteróide, a terapia de reposição de surfactante e o uso de estratégias ventilatórias "protetoras". O tratamento do paciente com displasia broncopulmonar demanda uma equipe multidisciplinar. Quando indicada, a suplementação de oxigênio é de extrema importância. Apesar de maior risco de morbimortalidade nos primeiros anos de vida, a evolução em longo prazo é favorável na maioria das vezes. CONCLUSÕES: A displasia broncopulmonar vem sendo profundamente estudada na tentativa de identificação das suas causas e possibilidades de prevenção e de tratamento. Ainda existem controvérsias quanto a esses assuntos e também em relação ao prognóstico desses pacientes, especialmente quando se trata da evolução tardia da "nova" displasia broncopulmonar.OBJECTIVE: To present a wide-ranging review of the literature on bronchopulmonary dysplasia, covering new definitions, pathophysiology, prevention, treatment, prognosis and progression. SOURCES OF DATA: The most relevant articles published on the subject since it was first

  11. Fibrous dysplasia and cherubism

    Directory of Open Access Journals (Sweden)

    Surajit Bhattacharya

    2015-01-01

    Full Text Available Fibrous dysplasia (FD is a non-malignant fibro-osseous bony lesion in which the involved bone/bones gradually get converted into expanding cystic and fibrous tissue. The underlying defect in FD is post-natal mutation of GNAS1 gene, which leads to the proliferation and activation of undifferentiated mesenchymal cells arresting the bone development in woven phase and ultimately converting them into fibro-osseous cystic tissue. Cherubism is a hereditary form of fibrous dysplasia in which the causative factor is transmission of autosomal dominant SH3BP2 gene mutation. The disease may present in two distinct forms, a less severe and limited monostotic form, and a more aggressive and more widespread polyostotic form. Polyostotic form may be associated with various endocrine abnormalities, which require active management apart from the management of FD. Management of FD is not free from controversies. While total surgical excision of the involved area and reconstruction using newer micro-vascular technique is the only definitive treatment available from the curative point of view, but this can be only offered to monostotic and very few polyostotic lesions. In polyostotic varieties on many occasions these radical surgeries are very deforming in these slow growing lesions and so their indication is highly debated. The treatment of cranio-facial fibrous dysplasia should be highly individualized, depending on the fact that the clinical behavior of lesion is variable at various ages and in individual patients. A more conservative approach in the form of aesthetic recontouring of deformed bone, orthodontic occlusal correction, and watchful expectancy may be the more accepted form of treatment in young patients. Newer generation real-time imaging guidance during recontouring surgery adds to accuracy and safety of these procedures. Regular clinical and radiological follow up is required to watch for quiescence, regression or reactivation of the disease process

  12. Evaluation of Ectodermal Dysplasia

    Directory of Open Access Journals (Sweden)

    Zelal Baskan

    2006-04-01

    Full Text Available This case series report outlines possible cranio-maxillofacial deformation consequences associated with ectodermal dysplasia (ED and embryonic malformations, including dental agenesis. Also described are the oral aspects and rehabilitation. A total of 14 ED patients (7 males and 7 females, aged 5-45 years underwent clinical examination before assessment and treatment. Lateral cephalometric radiography, Steiner's analysis, and respiratory capacity tests were performed. Most of the patients had sparse or absent hair, a short face with an unusual facial concavity, a maxillary retrusion, and a relative mandible protrusion. Depending on age and orthopedic abnormalities, patients were treated with prosthodontic and orthodontic approaches or implant treatment. Therapists should take a comprehensive and multidisciplinary approach with these patients to improve their dental, masticatory, growth, and orthognathic conditions, as well as esthetic appearance.

  13. Arrhythmogenic right ventricular dysplasia

    International Nuclear Information System (INIS)

    Vignolo Puglia, W.; Freire Colla, D.; Rivara Urrutia, D.; Lujambio Grene, M.; Arbiza Bruno, T.; Oliveira, G.; Cobas Rodriguez, J.

    1997-01-01

    The arrhythmogenic right ventricular dysplasia is a condition predominantly well defined with arrhythmic events. We analyze three cases diagnosed by the group. These cases were presented as ventricular tachycardia with a morphology of left bundle branch block, presenting one of them aborted sudden death in evolution. The baseline electrocardiogram and signal averaging were abnormal in two of the three cases, like the echocardiogram. The electrophysiological study was able to induce in the three patients with sustained monomorphic ventricular tachycardia morphology of left bundle branch block. The definitive diagnosis was made by right ventriculography in two cases and magnetic resonance imaging in the other. Treatment included antiarrhythmic drugs in the three cases and the placement of an automatic defibrillator which survived a sudden death (Author)

  14. Genetics Home Reference: metatropic dysplasia

    Science.gov (United States)

    ... is a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. The term "metatropic" is ... my area? Other Names for This Condition metatropic dwarfism metatropic dysplasia type 1 Related Information How are ...

  15. Oral epithelial dysplasia classification systems

    DEFF Research Database (Denmark)

    Warnakulasuriya, S; Reibel, J; Bouquot, J

    2008-01-01

    At a workshop coordinated by the WHO Collaborating Centre for Oral Cancer and Precancer in the United Kingdom issues related to potentially malignant disorders of the oral cavity were discussed by an expert group. The consensus views of the Working Group are presented in a series of papers....... In this report, we review the oral epithelial dysplasia classification systems. The three classification schemes [oral epithelial dysplasia scoring system, squamous intraepithelial neoplasia and Ljubljana classification] were presented and the Working Group recommended epithelial dysplasia grading for routine...... use. Although most oral pathologists possibly recognize and accept the criteria for grading epithelial dysplasia, firstly based on architectural features and then of cytology, there is great variability in their interpretation of the presence, degree and significance of the individual criteria...

  16. Septooptic dysplasia : a case report

    International Nuclear Information System (INIS)

    Kim, Jung Hae; Choi, Dae Seob; Lee, Chang Wook; Kim, Soon; Kim, Seung Hyeon; Lee, Sung Woo; Ha, Jung Ho; Sakong, Jung Kyu; Lee, Hyeon Kyeong

    2001-01-01

    Septooptic dysplasia is a rare anterior midline anomaly considered to be a mild form of lobar holoprosencephaly. We describe a case with unilateral optic nerve hypoplasia and the absence of a septum pellucidum

  17. Genetics Home Reference: frontonasal dysplasia

    Science.gov (United States)

    ... respective protein. As a result, the regulation of cell organization during development of the head and face is ... Craniofacial Association: A Guide to Understanding Frontonasal Dysplasia (PDF) Disease InfoSearch: ... Organization for Rare Disorders (NORD) Operation Smile Resource List ...

  18. Jansen type of spondylometaphyseal dysplasia

    International Nuclear Information System (INIS)

    Campbell, J.B.; Kozlowski, K.; Lejman, T.; Sulko, J.

    2000-01-01

    Metaphyseal dysplasia, type Jansen (JMD), is a rare skeletal dysplasia with characteristic radiographic abnormalities. Of the various types of metaphyseal dysplasia, JMD shows the most severe alteration in metaphyseal architecture. All of the long tubular bones, including those of the hands and feet, show metaphyseal irregularity with a fragmented appearance and slight widening. The adjacent physes are abnormally widened, while the epiphyses tend to be slightly enlarged, rounded but otherwise normal. The spine in infancy and childhood usually appears normal. This report describes a young girl with metaphyseal changes typical of JMD except for the hands and feet, which appeared normal. She also showed very unusual abnormalities of the spine. This appears, therefore, to represent a unique osteochondrodysplasia for which we propose the term spondylometaphyseal dysplasia, type Jansen. (orig.)

  19. Fibromuscular dysplasia of renal arteries

    International Nuclear Information System (INIS)

    Akhtar, N.; Ahmed, T.M.

    2007-01-01

    This case reports a young child having uncontrolled hypertension, resulting from bilateral renal artery stenosis due to fibromuscular dysplasia presenting with abdominal pain, headache and visual disturbance. Diagnostic features and management is discussed. (author)

  20. Focal cortical dysplasia – review

    International Nuclear Information System (INIS)

    Kabat, Joanna; Król, Przemysław

    2012-01-01

    Focal cortical dysplasia is a malformation of cortical development, which is the most common cause of medically refractory epilepsy in the pediatric population and the second/third most common etiology of medically intractable seizures in adults. Both genetic and acquired factors are involved in the pathogenesis of cortical dysplasia. Numerous classifications of the complex structural abnormalities of focal cortical dysplasia have been proposed – from Taylor et al. in 1971 to the last modification of Palmini classification made by Blumcke in 2011. In general, three types of cortical dysplasia are recognized. Type I focal cortical dysplasia with mild symptomatic expression and late onset, is more often seen in adults, with changes present in the temporal lobe. Clinical symptoms are more severe in type II of cortical dysplasia usually seen in children. In this type, more extensive changes occur outside the temporal lobe with predilection for the frontal lobes. New type III is one of the above dysplasias with associated another principal lesion as hippocampal sclerosis, tumor, vascular malformation or acquired pathology during early life. Brain MRI imaging shows abnormalities in the majority of type II dysplasias and in only some of type I cortical dysplasias. The most common findings on MRI imaging include: focal cortical thickening or thinning, areas of focal brain atrophy, blurring of the gray-white junction, increased signal on T2- and FLAIR-weighted images in the gray and subcortical white matter often tapering toward the ventricle. On the basis of the MRI findings, it is possible to differentiate between type I and type II cortical dysplasia. A complete resection of the epileptogenic zone is required for seizure-free life. MRI imaging is very helpful to identify those patients who are likely to benefit from surgical treatment in a group of patients with drug-resistant epilepsy. However, in type I cortical dysplasia, MR imaging is often normal, and also in both

  1. [Cochleovestibular dysplasia: a case report].

    Science.gov (United States)

    Darbi, A; Cenoui, F; Atmane, A; Amil, T; Hanine, A

    2010-04-01

    Cochleovestibular dysplasia or Mondini malformation is exceptional. Cochlear dysplasia is due to early cessation of the development of the inner ear during embryonic life. We report on the case of an infant who presented with perception deafness and repeated meningitis. CT allowed the diagnosis of Mondini malformation. We underline the importance of high-resolution CT in the diagnosis of Mondini malformation. Copyright 2010 Elsevier Masson SAS. All rights reserved.

  2. Re-interpreting Prominences Classified as Tornadoes

    Science.gov (United States)

    Martin, Sara F.; Venkataramanasastry, Aparna

    2015-04-01

    Some papers in the recent literature identify tornado prominences with barbs of quiescent prominences while papers in the much older historic literature include a second category of tornado prominence that does not correspond to a barb of a quiescent prominence. The latter are described as prominence mass rotating around a nearly vertical axis prior to its eruption and the rotation was verified by spectral measurements. From H alpha Doppler-shifted mass motions recorded at Helio Research or the Dutch Open Telescope, we illustrate how the apparent tornado-like motions, identified with barbs, are illusions in our mind’s eye resulting from poorly resolved counterstreaming threads of mass in the barbs of quiescent prominences. In contrast, we confirm the second category of rotational motion in prominences shortly before and during eruption. In addition, we identify this second category as part of the late phase of a phenomenon called the roll effect in erupting prominences. In these cases, the eruption begins with the sideways rolling of the top of a prominence. As the eruption proceeds the rolling motion propagates down one leg or both legs of the prominence depending on whether the eruption is asymmetric or symmetric respectively. As an asymmetric eruption continues, the longer lasting leg becomes nearly vertical and its rotational motion also continues. If only this phase of the eruption was observed, as in some historic cases, it was called a tornado prominence. However, when we now observe entire eruptions in time-lapse sequences, the similarity to terrestrial tornadoes is lost. We conclude that neither prominence barbs, that give the illusion of rotation, nor the cases of true rotational motion, in the legs of erupting prominences, are usefully described as tornado prominences when the complete prominence structure or complete erupting event is observed.

  3. Progressive pseudorheumatoid dysplasia

    International Nuclear Information System (INIS)

    Mampaey, S.; De Schepper, A.; Vanhoenacker, F.; Boven, K.; Hul, W. van

    2000-01-01

    A rare case of progressive pseudorheumatoid dysplasia (PPD) in a 9-year-old girl is presented. Clinically, chronic painless swollen joints, accompanied by progressive motion restriction and progressive walking difficulties, were found. Radiologically, there was enlargement of the epimetaphyseal portions of the large joints, metacarpal heads, and phalanges, and generalized platyspondyly with irregular delineation of the endplates of the vertebral bodies. The radioclinical features at the peripheral joints were originally misdiagnosed as juvenile rheumatoid arthritis (JRA), and the structural spinal abnormalities were neglected and interpreted as Scheuermann's disease. However, the absence of active inflammatory parameters argues against JRA, whereas the low age of onset of the irregularities at the vertebral endplates is an argument against the diagnosis of Scheuermann's disease. The combination of the dysplastic abnormalities of the spine, with platyspondyly and Scheuermann-like lesions at an unusually low age of onset, and radiological features mimicking JRA of the peripheral joints, is the clue to the diagnosis of this rare autosomal-recessive disease. This case is the first to document the MRI features of PPD of the spine. (orig.)

  4. Ureaplasma and bronchopulmonary dysplasia.

    Science.gov (United States)

    Gancia, Paolo; Delogu, Antonio; Pomero, Giulia

    2014-03-01

    Advances in neonatal intensive care have greatly improved survival rates for children born in a very early stage of lung development (i.e. less than 26 weeks of gestation). In these premature babies, even low levels of oxygen and methods of minimally invasive ventilation may disrupt the growth of the distal airways, a condition described as "new" bronchopulmonary dysplasia (BPD). Ureaplasma infection can occur in utero or in the perinatal period in premature infants, in some of which the infection with these organisms triggers an important lung pro-inflammatory and pro-fibrotic response, and may increase the risk of developing BPD. The inflammation may be worsened by exposure to oxygen and mechanical ventilation. At present, clinical studies have not clarified the role of Ureaplasma in the pathogenesis of BPD and there is insufficient evidence to determine whether antibiotic treatment of Ureaplasma has influence on the development of BPD and its comorbidities. Future research in the context of well-designed and controlled clinical trials of adequate statistical power should focus on how to determine whether the treatment of Ureaplasma decreases lung inflammation, reduces rates of BPD, and improves long-term neurodevelopment. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  5. Spondylometaphyseal dysplasia with hypercalcemia. [Radiological studies

    Energy Technology Data Exchange (ETDEWEB)

    Bagga, A.; Srivastava, R.N.; Gupta, S.; Gupta, A.

    1989-08-01

    Kozlowski's spondylometaphyseal dysplasia is characterised by short-trunk dwarfism, platyspondyly, metaphyseal dysplasia and retarded bone age. We report an association of this syndrome with asymptomatic, hypocalciuric hypercalcemia, a previously undocumented finding. (orig.).

  6. Ectodermal dysplasia: a genetic review.

    Science.gov (United States)

    Deshmukh, Seema; Prashanth, S

    2012-09-01

    Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder. How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202.

  7. Apparent Solar Tornado-Like Prominences

    Science.gov (United States)

    Panasenco, Olga; Martin, Sara F.; Velli, Marco

    2014-02-01

    Recent high-resolution observations from the Solar Dynamics Observatory (SDO) have reawakened interest in the old and fascinating phenomenon of solar tornado-like prominences. This class of prominences was first introduced by Pettit ( Astrophys. J. 76, 9, 1932), who studied them over many years. Observations of tornado prominences similar to the ones seen by SDO had already been documented by Secchi ( Le Soleil, 1877). High-resolution and high-cadence multiwavelength data obtained by SDO reveal that the tornado-like appearance of these prominences is mainly an illusion due to projection effects. We discuss two different cases where prominences on the limb might appear to have a tornado-like behavior. One case of apparent vortical motions in prominence spines and barbs arises from the (mostly) 2D counterstreaming plasma motion along the prominence spine and barbs together with oscillations along individual threads. The other case of apparent rotational motion is observed in a prominence cavity and results from the 3D plasma motion along the writhed magnetic fields inside and along the prominence cavity as seen projected on the limb. Thus, the "tornado" impression results either from counterstreaming and oscillations or from the projection on the plane of the sky of plasma motion along magnetic-field lines, rather than from a true vortical motion around an (apparent) vertical or horizontal axis. We discuss the link between tornado-like prominences, filament barbs, and photospheric vortices at their base.

  8. Chondroectodermal dysplasia: a rare syndrome.

    Directory of Open Access Journals (Sweden)

    Dana Tahririan

    2014-06-01

    Full Text Available Chondroectodermal dysplasia (Ellis-Van Creveld syndrome is a rare autosomal recessive congenital abnormality. This syndrome is characterized by a spectrum of clinical findings, among which chondrodystrophy, polydactyly, ectodermal dysplasia, and congenital cardiac anomalies are the most common. It is imperative to not overlook the cardiac complications in patients with this syndrome during dental procedures. The case presented here, although quite rare, was detected under normal conditions and can be alarming for dental care providers. Clinical reports outline the classical and unusual oral and dental manifestations, which help health care providers diagnose chondroectodermal dysplasia, and refer patients with this syndrome to appropriate health care professionals to receive treatment to prevent further cardiac complications and bone deformities.

  9. Prominence mass supply and the cavity

    Energy Technology Data Exchange (ETDEWEB)

    Schmit, Donald J.; Innes, D. [Max Planck Institute for Solar System Research, D-37191 Katlenburg-Lindau (Germany); Gibson, S. [High Altitude Observatory, National Center for Atmospheric Research, Boulder, CO 80307 (United States); Luna, M. [Instituto de Astrofísica de Canarias, E-38200 La Laguna, Tenerife (Spain); Karpen, J. [NASA Goddard Space Flight Center, Greenbelt, MD 20771 (United States)

    2013-12-20

    A prevalent but untested paradigm is often used to describe the prominence-cavity system: the cavity is under-dense because it is evacuated by supplying mass to the condensed prominence. The thermal non-equilibrium (TNE) model of prominence formation offers a theoretical framework to predict the thermodynamic evolution of the prominence and the surrounding corona. We examine the evidence for a prominence-cavity connection by comparing the TNE model with diagnostics of dynamic extreme ultraviolet (EUV) emission surrounding the prominence, specifically prominence horns. Horns are correlated extensions of prominence plasma and coronal plasma which appear to connect the prominence and cavity. The TNE model predicts that large-scale brightenings will occur in the Solar Dynamics Observatory Atmospheric Imaging Assembly 171 Å bandpass near the prominence that are associated with the cooling phase of condensation formation. In our simulations, variations in the magnitude of footpoint heating lead to variations in the duration, spatial scale, and temporal offset between emission enhancements in the other EUV bandpasses. While these predictions match well a subset of the horn observations, the range of variations in the observed structures is not captured by the model. We discuss the implications of our one-dimensional loop simulations for the three-dimensional time-averaged equilibrium in the prominence and the cavity. Evidence suggests that horns are likely caused by condensing prominence plasma, but the larger question of whether this process produces a density-depleted cavity requires a more tightly constrained model of heating and better knowledge of the associated magnetic structure.

  10. Managing Children with Bronchopulmonary Dysplasia

    Directory of Open Access Journals (Sweden)

    A. A. Baranov

    2016-01-01

    Full Text Available Bronchopulmonary dysplasia is one of the most significant early childhood chronic respiratory diseases. The article features modern approaches to preventing, diagnosing and treating broncho-pulmonary dysplasia, as well as ways of preventing complications and undesirable disease outcomes in patients older than 3 years. Members of professional associations — Union of Pediatricians of Russia and Russian Association of Perinatal Medicine Specialists — have summarized the experience of managing this category of patients at leading Russian pediatric centers according to the principles of evidence-based medicine and have provided scientific and practical data corresponding to the world level of knowledge with regard to the present problem.

  11. Prominence Mass Supply and the Cavity

    Science.gov (United States)

    Schmit, Donald J.; Gibson, S.; Luna, M.; Karpen, J.; Innes, D.

    2013-01-01

    A prevalent but untested paradigm is often used to describe the prominence-cavity system; the cavity is under-dense because it it evacuated by supplying mass to the condensed prominence. The thermal non-equilibrium (TNE) model of prominence formation offers a theoretical framework to predict the thermodynamic evolutin of the prominence and the surrounding corona. We examine the evidence for a prominence-cavity connection by comparing the TNE model and diagnostics of dynamic extreme ultraviolet (EUV) emission surrounding the prominence, specifically prominence horns. Horns are correlated extensions of prminence plasma and coronal plasma which appear to connect the prominence and cavity. The TNE model predicts that large-scale brightenings will occur in the Solar Dynamics Observatory Atmospheric Imaging Assembly 171 A badpass near he prominence that are associated with the cooling phase of condensation formation. In our simulations, variations in the magnitude of footpoint heating lead to variations in the duration, spatial scale, and temporal offset between emission enhancements in the other EUV bandpasses. While these predictions match well a subset of the horn observations, the range of variations in the observed structures is not captured by the model. We discuss the implications of one-dimensional loop simulations for the three-dimensional time-averaged equilibrium in the prominence and the cavity. Evidence suggests that horns are likely caused by condensing prominence plasma, but the larger question of whether this process produces a density-depleted cavity requires a more tightly constrained model of heating and better knowledge of the associated magnetic structure.

  12. Diastrophic dysplasia: prenatal diagnosis and review of the literature

    Directory of Open Access Journals (Sweden)

    Jonathan Celli Honório

    Full Text Available CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene. Abnormalities occurring particularly in the skeletal and cartilaginous system are typical of the disease, which has an incidence of 1 in 100,000 live births. CASE REPORT The case of a pregnant woman, without any consanguineous relationship with her husband, whose fetus was diagnosed with skeletal dysplasia based on ultrasound findings and DNA tests, is described. An obstetric ultrasound scan produced in the 16th week of gestation revealed characteristics that guided the clinical diagnosis. Prominent among these characteristics were rhizomelia of the lower and upper limbs (shortening of the proximal portions and mesomelia (shortening of the intermediate portions. Both upper limbs showed marked curvature, with the first finger of the upper limbs in abduction and clinodactyly of the fifth finger. Molecular analysis using the polymerase chain reaction (PCR and gene sequencing detected mutations that had already been described in the literature for the gene DTDST, named c.862C > T and c.2147_2148insCT. Therefore, the fetus was a compound heterozygote, carrying two different mutations. CONCLUSIONS Prenatal diagnosis of this condition allowed a more realistic interpretation of the prognosis, and of the couple's reproductive future. This case report shows the contribution of molecular genetics towards the prenatal diagnosis, for which there are few descriptions in the literature.

  13. Dentomaxillofacial characteristics of ectodermal dysplasia.

    Science.gov (United States)

    Nakayama, Yumiko; Baba, Yoshiyuki; Tsuji, Michiko; Fukuoka, Hiroki; Ogawa, Takuya; Ohkuma, Mizue; Moriyama, Keiji

    2015-02-01

    The aim of this retrospective hospital-based study was to elucidate the dentomaxillofacial characteristics of ectodermal dysplasia. Six Japanese individuals (one male and five female; age range, 12.7-27.2 years) underwent comprehensive examinations, including history recording, cephalometric analysis, panoramic radiography, and analysis of dental models. All the subjects had two or more major manifestations for clinical diagnosis of ectodermal dysplasia (e.g., defects of hair, teeth, nails, and sweat glands). They presented hypodontia (mean number of missing teeth, 9.5; range, 5-14), especially in the premolar region, and enamel dysplasia. Five subjects had bilateral molar occlusion, whereas one subject had unilateral molar occlusion. The common skeletal features were small facial height, maxillary hypoplasia, counterclockwise rotation of the mandible, and mandibular protrusion. Interestingly, the maxillary first molars were located in higher positions and the upper anterior facial height was smaller than the Japanese norm. The results suggest that vertical and anteroposterior maxillary growth retardation, rather than lack of occlusal support due to hypodontia, leads to reduced anterior facial height in individuals with ectodermal dysplasia. © 2014 Japanese Teratology Society.

  14. Cranioectodermal Dysplasia : A Probable Ciliopathy

    NARCIS (Netherlands)

    Konstantinidou, Anastasia E.; Fryssira, Helen; Sifakis, Stavros; Karadimas, Charalampos; Kaminopetros, Petros; Agrogiannis, Georgios; Velonis, Stylianos; Nikkels, Peter G. J.; Patsouris, Efstratios

    2009-01-01

    Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive genetic disorder characterized by typical craniofacial, skeletal and ectodermal defects, and tubulointerstitial nephritis leading to early end-stage renal failure. We report on a new familial case

  15. Primary cellular meningeal defects cause neocortical dysplasia and dyslamination

    Science.gov (United States)

    Hecht, Jonathan H.; Siegenthaler, Julie A.; Patterson, Katelin P.; Pleasure, Samuel J.

    2010-01-01

    Objective Cortical malformations are important causes of neurological morbidity, but in many cases their etiology is poorly understood. Mice with Foxc1 mutations have cellular defects in meningeal development. We use hypomorphic and null alleles of Foxc1 to study the effect of meningeal defects on neocortical organization. Methods Embryos with loss of Foxc1 activity were generated using the hypomorphic Foxc1hith allele and the null Foxc1lacZ allele. Immunohistologic analysis was used to assess cerebral basement membrane integrity, marginal zone heterotopia formation, neuronal overmigration, meningeal defects, and changes in basement membrane composition. Dysplasia severity was quantified using two measures. Results Cortical dysplasia resembling cobblestone cortex, with basement membrane breakdown and lamination defects, is seen in Foxc1 mutants. As Foxc1 activity was reduced, abnormalities in basement membrane integrity, heterotopia formation, neuronal overmigration, and meningeal development appeared earlier in gestation and were more severe. Surprisingly, the basement membrane appeared intact at early stages of development in the face of severe deficits in meningeal development. Prominent defects in basement membrane integrity appeared as development proceeded. Molecular analysis of basement membrane laminin subunits demonstrated that loss of the meninges led to changes in basement membrane composition. Interpretation Cortical dysplasia can be caused by cellular defects in the meninges. The meninges are not required for basement membrane establishment but are needed for remodeling as the brain expands. Specific changes in basement membrane composition may contribute to subsequent breakdown. Our study raises the possibility that primary meningeal defects may cortical dysplasia in some cases. PMID:20976766

  16. TANGLED MAGNETIC FIELDS IN SOLAR PROMINENCES

    International Nuclear Information System (INIS)

    Van Ballegooijen, A. A.; Cranmer, S. R.

    2010-01-01

    Solar prominences are an important tool for studying the structure and evolution of the coronal magnetic field. Here we consider so-called hedgerow prominences, which consist of thin vertical threads. We explore the possibility that such prominences are supported by tangled magnetic fields. A variety of different approaches are used. First, the dynamics of plasma within a tangled field is considered. We find that the contorted shape of the flux tubes significantly reduces the flow velocity compared to the supersonic free fall that would occur in a straight vertical tube. Second, linear force-free models of tangled fields are developed, and the elastic response of such fields to gravitational forces is considered. We demonstrate that the prominence plasma can be supported by the magnetic pressure of a tangled field that pervades not only the observed dense threads but also their local surroundings. Tangled fields with field strengths of about 10 G are able to support prominence threads with observed hydrogen density of the order of 10 11 cm -3 . Finally, we suggest that the observed vertical threads are the result of Rayleigh-Taylor instability. Simulations of the density distribution within a prominence thread indicate that the peak density is much larger than the average density. We conclude that tangled fields provide a viable mechanism for magnetic support of hedgerow prominences.

  17. Magnetohydrodynamic (MHD) simulation of solar prominence formation

    International Nuclear Information System (INIS)

    Bao, J.

    1987-01-01

    Formation of Kippenhahn-Schluter type solar prominences by chromospheric mass injection is studied via numerical simulation. The numerical model is based on a two-dimensional, time-dependent magnetohydrodynamic (MHD) theory. In addition, an analysis of gravitational thermal MHD instabilities related to condensation is performed by using the small-perturbation method. The conclusions are: (1) Both quiescent and active-region prominences can be formed by chromospheric mass injection, provided certain optimum conditions are satisfied. (2) Quiescent prominences cannot be formed without condensation, though enough mass is supplied from chromosphere. The mass of a quiescent prominence is composed of both the mass injected from the chromosphere and the mass condensed from the corona. On the other hand, condensation is not important to active region prominence formation. (3) In addition to channeling and supporting effects, the magnetic field plays another important role, i.e. containing the prominence material. (4) In the model cases, prominences are supported by the Lorentz force, the gas-pressure gradient and the mass-injection momentum. (5) Due to gravity, more MHD condensation instability modes appear in addition to the basic condensation mode

  18. Nonlinear MHD Waves in a Prominence Foot

    Science.gov (United States)

    Ofman, L.; Knizhnik, K.; Kucera, T.; Schmieder, B.

    2015-11-01

    We study nonlinear waves in a prominence foot using a 2.5D MHD model motivated by recent high-resolution observations with Hinode/Solar Optical Telescope in Ca ii emission of a prominence on 2012 October 10 showing highly dynamic small-scale motions in the prominence material. Observations of Hα intensities and of Doppler shifts show similar propagating fluctuations. However, the optically thick nature of the emission lines inhibits a unique quantitative interpretation in terms of density. Nevertheless, we find evidence of nonlinear wave activity in the prominence foot by examining the relative magnitude of the fluctuation intensity (δI/I ˜ δn/n). The waves are evident as significant density fluctuations that vary with height and apparently travel upward from the chromosphere into the prominence material with quasi-periodic fluctuations with a typical period in the range of 5-11 minutes and wavelengths <2000 km. Recent Doppler shift observations show the transverse displacement of the propagating waves. The magnetic field was measured with the THEMIS instrument and was found to be 5-14 G. For the typical prominence density the corresponding fast magnetosonic speed is ˜20 km s-1, in qualitative agreement with the propagation speed of the detected waves. The 2.5D MHD numerical model is constrained with the typical parameters of the prominence waves seen in observations. Our numerical results reproduce the nonlinear fast magnetosonic waves and provide strong support for the presence of these waves in the prominence foot. We also explore gravitational MHD oscillations of the heavy prominence foot material supported by dipped magnetic field structure.

  19. NONLINEAR MHD WAVES IN A PROMINENCE FOOT

    Energy Technology Data Exchange (ETDEWEB)

    Ofman, L. [Catholic University of America, Washington, DC 20064 (United States); Knizhnik, K.; Kucera, T. [NASA Goddard Space Flight Center, Code 671, Greenbelt, MD 20771 (United States); Schmieder, B. [LESIA, Observatoire de Paris, PSL Research University, CNRS, Sorbonne Universités, UPMC Univ. Paris 06, Univ. Paris-Diderot, Sorbonne Paris Cit, 5 place Jules Janssen, F-92195 Meudon (France)

    2015-11-10

    We study nonlinear waves in a prominence foot using a 2.5D MHD model motivated by recent high-resolution observations with Hinode/Solar Optical Telescope in Ca ii emission of a prominence on 2012 October 10 showing highly dynamic small-scale motions in the prominence material. Observations of Hα intensities and of Doppler shifts show similar propagating fluctuations. However, the optically thick nature of the emission lines inhibits a unique quantitative interpretation in terms of density. Nevertheless, we find evidence of nonlinear wave activity in the prominence foot by examining the relative magnitude of the fluctuation intensity (δI/I ∼ δn/n). The waves are evident as significant density fluctuations that vary with height and apparently travel upward from the chromosphere into the prominence material with quasi-periodic fluctuations with a typical period in the range of 5–11 minutes and wavelengths <2000 km. Recent Doppler shift observations show the transverse displacement of the propagating waves. The magnetic field was measured with the THEMIS instrument and was found to be 5–14 G. For the typical prominence density the corresponding fast magnetosonic speed is ∼20 km s{sup −1}, in qualitative agreement with the propagation speed of the detected waves. The 2.5D MHD numerical model is constrained with the typical parameters of the prominence waves seen in observations. Our numerical results reproduce the nonlinear fast magnetosonic waves and provide strong support for the presence of these waves in the prominence foot. We also explore gravitational MHD oscillations of the heavy prominence foot material supported by dipped magnetic field structure.

  20. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).

    Science.gov (United States)

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  1. Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)

    OpenAIRE

    Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

    2014-01-01

    Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts.

  2. Topic prominence in Chinese EFL learners’ interlanguage

    Directory of Open Access Journals (Sweden)

    Shaopeng Li

    2014-01-01

    Full Text Available The present study aims to investigate the general characteristics of topicprominent typological interlanguage development of Chinese learners of English in terms of acquiring subject-prominent English structures from a discourse perspective. Topic structures mainly appear in Chinese discourse in the form of topic chains (Wang, 2002; 2004. The research target are the topic chain, which is the main topic-prominent structure in Chinese discourse, and zero anaphora, which is the most common topic anaphora in the topic chain. Two important findings emerged from the present study. First, the characteristics of Chinese topic chains are transferrable to the interlanguage of Chinese EFL learners, thus resulting in overgeneralization of the zero anaphora. Second, the interlanguage discourse of Chinese EFL learners reflects a change of the second language acquisition process from topic-prominence to subject-prominence, thus lending support to the discourse transfer hypothesis.

  3. EUV observations of quiescent prominences from Skylab

    International Nuclear Information System (INIS)

    Moe, O.K.

    1979-01-01

    The authors report measurements of line intensities and line widths for three quiescent prominences observed with the Naval Research Laboratory slit spectrograph on ATM/Skylab. The wavelengths of the observed lines cover the range 1175 A to 1960 A. The measured intensities have been calibrated to within approximately a factor 2 and are average intensities over a 2 arc sec by 60 arc set slit. Nonthermal velocities are derived from the measured line widths. The nonthermal velocity is found to increase with temperature in the prominence transition zone. Electron densities and pressures are derived from density sensitive line ratios. Electron pressures for two of the prominences are found to lie in the range 0.04-0.08 dyn cm -2 , while values for the third and most intense and active of the three prominences are in the range 0.07-0.22 dyn cm -2 . (Auth.)

  4. Craniofacial features of cleidocranial dysplasia

    Directory of Open Access Journals (Sweden)

    Chin-Yun Pan

    2017-12-01

    Full Text Available Cleidocranial dysplasia (CCD is an autosomal-dominant malformation syndrome affecting bones and teeth. The most common skeletal and dental abnormalities in affected individuals are hypoplastic/aplastic clavicles, open fontanelles, short stature, retention of primary teeth, delayed eruption of permanent teeth, supernumerary teeth, and multiple impacted teeth. Treatment of CCD requires a multidisciplinary approach that may include dental corrections, orthognathic surgery and cranioplasty along with management of any complications of CCD. Early diagnosis of this condition enables application of the treatment strategy that provides the best quality of life to such patients. Notably, Runx2 gene mutations have been identified in CCD patients. Therefore, further elucidation of the molecular mechanism of supernumerary teeth formation related to Runx2 mutations may improve understanding of dental development in CCD. The insights into CCD pathogenesis may assist in the development of new treatments for CCD. Keywords: cleidocranial dysplasia, mutation, Runx2, supernumerary teeth

  5. Cleidocranial dysplasia: a case report

    International Nuclear Information System (INIS)

    Kim, Jae Duk; Lee, Chang Yul; You, Choong Hyun

    2004-01-01

    Cleidocranial dysplasia is a rare and autosomal dominant disorder characterized by aplasia or hypoplasia of the clavicles, an open fontanelle, dental abnormalities, and short stature. A 17-year-old female who presented with short stature and subsequent delay in eruption of permanent teeth is described. she showed the abnormal hypermobility of the shoulder, ocular hypertelorism and concave nasal bridge. Radiographs revealed the underdeveloped maxilla, defect of the cranium in the fontanelle region, and aplasia of the clavicles. Characteristically, panoramic view revealed near parallel-sided borders of the ascending ramus and downward curvature of the zygomatic arch with hypoplasia. The prolonged retention of deciduous teeth with delayed eruption of permanent teeth and multiple embedded supernumerary teeth were striking. Radiographic and clinical investigations revealed Cleidocranial dysplasia.

  6. Cleidocranial dysplasia: a case report

    International Nuclear Information System (INIS)

    Han, Jin Won

    2005-01-01

    Cleidocranial dysplasia is a rare, autosomal dominant congenital disorder. A 12-year-old female visited with chief complaint of unerupted permanent teeth. Also her father showed severe class III malocclusion. The extraoral radiography and computed tomography showed delayed closure of the cranial sutures and underdevelopment of maxilla, maxillary sinuses, and frontal sinus. Both clavicles were underdeveloped and thoracic rib cage was bell-shaped. Both zygomatic process appeared as hypoplastic feature. There were many unerupted permanent and supernumerary teeth in the maxilla and mandible. We examined location and number of the unerupted teeth using 3D CT. Finally we could conclude this case was cleidocranial dysplasia based on the clinico-radiologic findings.

  7. [Bronchopulmonary dysplasia: definitions and classifications].

    Science.gov (United States)

    Sánchez Luna, M; Moreno Hernando, J; Botet Mussons, F; Fernández Lorenzo, J R; Herranz Carrillo, G; Rite Gracia, S; Salguero García, E; Echaniz Urcelay, I

    2013-10-01

    Bronchopulmonary dysplasia is the most common sequelae related to very low birth weight infants, mostly with those of extremely low birth weight. Even with advances in prevention and treatment of respiratory distress syndrome associated with prematurity, there is still no decrease in the incidence in this population, although a change in its clinical expression and severity has been observed. There are, however, differences in its frequency between health centres, probably due to a non-homogeneously used clinical definition. In this article, the Committee of Standards of the Spanish Society of Neonatology wishes to review the current diagnosis criteria of bronchopulmonary dysplasia to reduce, as much as possible, these inter-centre differences. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  8. Mechanical Ventilation and Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Keszler, Martin; Sant'Anna, Guilherme

    2015-12-01

    Mechanical ventilation is an important potentially modifiable risk factor for the development of bronchopulmonary dysplasia. Effective use of noninvasive respiratory support reduces the risk of lung injury. Lung volume recruitment and avoidance of excessive tidal volume are key elements of lung-protective ventilation strategies. Avoidance of oxidative stress, less invasive methods of surfactant administration, and high-frequency ventilation are also important factors in lung injury prevention. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. Ectodermal dysplasia in identical twins

    OpenAIRE

    Puttaraju, Gurkar Haraswarupa; Visveswariah, Paranjyothi Magadi

    2013-01-01

    Hereditary hypohidrotic ectodermal dysplasia (HED) is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands. Two cases of hereditary HED involving identical male twins, is being documented for the rarity of its occurrence with special attention given to genetics, pathophysiology, clinical, intraoral manifestations and to the methods to improve the masticatory function, the facia...

  10. Mondini Dysplasia Presenting as Otorrhea without Meningitis

    OpenAIRE

    Chien-Yu Lin; Hung-Ching Lin; Chun-Chih Peng; Kuo-Sheng Lee; Nan-Chang Chiu

    2012-01-01

    Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emp...

  11. Congenital distal humeral dysplasia: a case report

    International Nuclear Information System (INIS)

    Joseph, Benjamin; Varghese, Renjit A.

    2003-01-01

    Congenital dysplasia of the humerus is very rare. It is characteristically seen in omodysplasia and has also been reported as one of the associated features of Larsen's syndrome. We report a 4-year-old girl with bilateral humero-ulnar dysplasia, with dislocation of the elbows, facial dysmorphism, ball-and-socket ankles and foot deformities. Although the elbow dysplasia is similar to that seen in Larsen's syndrome, other pathognomic features of Larsen's syndrome were absent. The changes seen in the elbows in this patient are also different from those encountered in omodysplasia. We believe that this condition may be a distinct form of skeletal dysplasia hitherto undescribed. (orig.)

  12. Lower Lid Ectropion in Hypohidrotic Ectodermal Dysplasia

    Directory of Open Access Journals (Sweden)

    Xiaoyun Zhang

    2015-01-01

    Full Text Available We report a case of a lower lid ectropion with ectodermal dysplasia and ectropion blepharoplasty surgery experience. A 14-year-old Han nationality male patient with typical characteristics of hypohidrotic ectodermal dysplasia presented to our clinic for his right lower lid eversion. The patient was diagnosed as having hypohidrotic ectodermal dysplasia and underwent an uneventful blepharoplasty surgery. The lower lid maintained normal position during the 10-month follow-up period. Patients with ectodermal dysplasia could firstly visit ophthalmologist for their ectropion and blepharoplasty surgery could be useful for the disease.

  13. A case report of the fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    You, Dong Soo [Department of Radiology, College of Dentistry, Seoul National University, Seoul (Korea, Republic of)

    1975-11-15

    The author observed a rare case of fibrous dysplasia in 12 year old female who came to the Infirmary of Dental College, Seoul National University, complaining of facial asymmetry of 3 years' duration in right maxillofacial region. The serial radiograms has been taken, and the nature of the lesion established as a typical fibrous dysplasia according to the interpreted findings in their images. The author has obtained the results as follows: 1. Fibrous dysplasia occurred at 3 years of age in this case. 2. On familial tendency, traumatic history and endocrine disturbances were not noted in this patient. 3. The serial radiograms revealed a typical fibrous dysplasia encroaching right zygomatic bone.

  14. Pelvic radiograph in skeletal dysplasias: An approach

    Directory of Open Access Journals (Sweden)

    Manisha Jana

    2017-01-01

    Full Text Available The bony pelvis is constituted by the ilium, ischium, pubis, and sacrum. The pelvic radiograph is an important component of the skeletal survey performed in suspected skeletal dysplasia. Most of the common skeletal dysplasias have either minor or major radiological abnormalities; hence, knowledge of the normal radiological appearance of bony pelvis is vital for recognizing the early signs of various skeletal dysplasias. This article discusses many common and some uncommon radiological findings on pelvic radiographs along with the specific dysplasia in which they are seen; common differential diagnostic considerations are also discussed.

  15. A case report of the fibrous dysplasia

    International Nuclear Information System (INIS)

    You, Dong Soo

    1975-01-01

    The author observed a rare case of fibrous dysplasia in 12 year old female who came to the Infirmary of Dental College, Seoul National University, complaining of facial asymmetry of 3 years' duration in right maxillofacial region. The serial radiograms has been taken, and the nature of the lesion established as a typical fibrous dysplasia according to the interpreted findings in their images. The author has obtained the results as follows: 1. Fibrous dysplasia occurred at 3 years of age in this case. 2. On familial tendency, traumatic history and endocrine disturbances were not noted in this patient. 3. The serial radiograms revealed a typical fibrous dysplasia encroaching right zygomatic bone.

  16. Presentation of hypohidrotic ectodermal dysplasia in two siblings

    Directory of Open Access Journals (Sweden)

    Uday Ginjupally

    2015-01-01

    Full Text Available Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive disorders and have a full expression in males, whereas females show little to no signs of the disorder. The two most common types of ectodermal dysplasias are hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome and hidrotic ectodermal dysplasia (Clouston syndrome. Hypohidrotic ectodermal dysplasia is characterized by hypodontia, hypotrichosis, and hypohidrosis. Here, we present two female sibling cases of hypohidrotic ectodermal dysplasia.

  17. A Novel Mutation in the EDAR Gene Causes Severe Autosomal Recessive Hypohidrotic Ectodermal Dysplasia

    DEFF Research Database (Denmark)

    Henningsen, Emil; Svendsen, Mathias Tiedemann; Lildballe, D. L.

    2014-01-01

    We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous......-mediated NF-kB signalling. This complete loss-of-function mutation likely accounts for the severe clinical abnormalities in ectodermal structures in the described patient. (C) 2014 Wiley Periodicals, Inc....

  18. Automated image based prominent nucleoli detection.

    Science.gov (United States)

    Yap, Choon K; Kalaw, Emarene M; Singh, Malay; Chong, Kian T; Giron, Danilo M; Huang, Chao-Hui; Cheng, Li; Law, Yan N; Lee, Hwee Kuan

    2015-01-01

    Nucleolar changes in cancer cells are one of the cytologic features important to the tumor pathologist in cancer assessments of tissue biopsies. However, inter-observer variability and the manual approach to this work hamper the accuracy of the assessment by pathologists. In this paper, we propose a computational method for prominent nucleoli pattern detection. Thirty-five hematoxylin and eosin stained images were acquired from prostate cancer, breast cancer, renal clear cell cancer and renal papillary cell cancer tissues. Prostate cancer images were used for the development of a computer-based automated prominent nucleoli pattern detector built on a cascade farm. An ensemble of approximately 1000 cascades was constructed by permuting different combinations of classifiers such as support vector machines, eXclusive component analysis, boosting, and logistic regression. The output of cascades was then combined using the RankBoost algorithm. The output of our prominent nucleoli pattern detector is a ranked set of detected image patches of patterns of prominent nucleoli. The mean number of detected prominent nucleoli patterns in the top 100 ranked detected objects was 58 in the prostate cancer dataset, 68 in the breast cancer dataset, 86 in the renal clear cell cancer dataset, and 76 in the renal papillary cell cancer dataset. The proposed cascade farm performs twice as good as the use of a single cascade proposed in the seminal paper by Viola and Jones. For comparison, a naive algorithm that randomly chooses a pixel as a nucleoli pattern would detect five correct patterns in the first 100 ranked objects. Detection of sparse nucleoli patterns in a large background of highly variable tissue patterns is a difficult challenge our method has overcome. This study developed an accurate prominent nucleoli pattern detector with the potential to be used in the clinical settings.

  19. Automated image based prominent nucleoli detection

    Directory of Open Access Journals (Sweden)

    Choon K Yap

    2015-01-01

    Full Text Available Introduction: Nucleolar changes in cancer cells are one of the cytologic features important to the tumor pathologist in cancer assessments of tissue biopsies. However, inter-observer variability and the manual approach to this work hamper the accuracy of the assessment by pathologists. In this paper, we propose a computational method for prominent nucleoli pattern detection. Materials and Methods: Thirty-five hematoxylin and eosin stained images were acquired from prostate cancer, breast cancer, renal clear cell cancer and renal papillary cell cancer tissues. Prostate cancer images were used for the development of a computer-based automated prominent nucleoli pattern detector built on a cascade farm. An ensemble of approximately 1000 cascades was constructed by permuting different combinations of classifiers such as support vector machines, eXclusive component analysis, boosting, and logistic regression. The output of cascades was then combined using the RankBoost algorithm. The output of our prominent nucleoli pattern detector is a ranked set of detected image patches of patterns of prominent nucleoli. Results: The mean number of detected prominent nucleoli patterns in the top 100 ranked detected objects was 58 in the prostate cancer dataset, 68 in the breast cancer dataset, 86 in the renal clear cell cancer dataset, and 76 in the renal papillary cell cancer dataset. The proposed cascade farm performs twice as good as the use of a single cascade proposed in the seminal paper by Viola and Jones. For comparison, a naive algorithm that randomly chooses a pixel as a nucleoli pattern would detect five correct patterns in the first 100 ranked objects. Conclusions: Detection of sparse nucleoli patterns in a large background of highly variable tissue patterns is a difficult challenge our method has overcome. This study developed an accurate prominent nucleoli pattern detector with the potential to be used in the clinical settings.

  20. Fibrous dysplasia of the femoral neck

    International Nuclear Information System (INIS)

    Savage, P.E.; Stoker, D.J.

    1984-01-01

    Fibrous dysplasia of the femur is usually observed in the intertrochanteric region. It is rarely confined to the femoral neck. We present four cases illustrating the radiographic appearance and spectrum of this condition which all showed the relatively lucent variety of fibrous dysplasia with varying degrees of expansion and surrounding sclerosis. The natural history of this condition is discussed. (orig.)

  1. Magnetohydrodynamic interpretation of the motion of prominences

    International Nuclear Information System (INIS)

    Sakurai, Takashi

    1976-01-01

    We study three types of prominence eruptions, which we will call the arch type, the loop type, and the gigantic arch type, respectively, from their shapes. If we regard the prominence as a magnetic flux tube, the onset of its ascending motion can be interpreted as the motion due to the screw-mode instability, which is the most unstable mode of instabilities of a magnetofluid column (pinch). The growth rate of this mode is evaluated and is shown to be consistent with the time scale of the initial stage of the eruption. In order to study the nonlinear stage of the instability, we propose a method of numerical calculation based on a variational technique known as Ritz's method. The result shows that the characteristic motion of the arch-, loop-, and gigantic arch-type eruptions may be reproduced by perturbing a model sequence with decreasing pitch angles of the unperturbed helical magnetic field lines. This conclusion seems to be supported by the pitch angles of observed threads in each type of prominence and also by the fact that the observed time profiles of the rising velocity of the prominences of each type agree well with those predicted from model calculations. (auth.)

  2. Topic Prominence in Chinese EFL Learners' Interlanguage

    Science.gov (United States)

    Li, Shaopeng; Yang, Lianrui

    2014-01-01

    The present study aims to investigate the general characteristics of topicprominent typological interlanguage development of Chinese learners of English in terms of acquiring subject-prominent English structures from a discourse perspective. Topic structures mainly appear in Chinese discourse in the form of topic chains (Wang, 2002; 2004). The…

  3. PROMINENCE ACTIVATION BY CORONAL FAST MODE SHOCK

    Energy Technology Data Exchange (ETDEWEB)

    Takahashi, Takuya [Department of Astronomy, Kyoto University, Sakyo, Kyoto, 606-8502 (Japan); Asai, Ayumi [Unit of Synergetic Studies for Space, Kyoto University, Yamashina, Kyoto 607-8471 (Japan); Shibata, Kazunari, E-mail: takahashi@kwasan.kyoto-u.ac.jp [Kwasan and Hida Observatories, Kyoto University, Yamashina, Kyoto 607-8471 (Japan)

    2015-03-01

    An X5.4 class flare occurred in active region NOAA11429 on 2012 March 7. The flare was associated with a very fast coronal mass ejection (CME) with a velocity of over 2500 km s{sup −1}. In the images taken with the Solar Terrestrial Relations Observatory-B/COR1, a dome-like disturbance was seen to detach from an expanding CME bubble and propagated further. A Type-II radio burst was also observed at the same time. On the other hand, in extreme ultraviolet images obtained by the Solar Dynamic Observatory/Atmospheric Imaging Assembly (AIA), the expanding dome-like structure and its footprint propagating to the north were observed. The footprint propagated with an average speed of about 670 km s{sup −1} and hit a prominence located at the north pole and activated it. During the activation, the prominence was strongly brightened. On the basis of some observational evidence, we concluded that the footprint in AIA images and the ones in COR1 images are the same, that is, the MHD fast mode shock front. With the help of a linear theory, the fast mode Mach number of the coronal shock is estimated to be between 1.11 and 1.29 using the initial velocity of the activated prominence. Also, the plasma compression ratio of the shock is enhanced to be between 1.18 and 2.11 in the prominence material, which we consider to be the reason for the strong brightening of the activated prominence. The applicability of linear theory to the shock problem is tested with a nonlinear MHD simulation.

  4. Multispacecraft observations of a prominence eruption

    Directory of Open Access Journals (Sweden)

    A. Bemporad

    2009-10-01

    Full Text Available On 9 May 2007 a prominence eruption occurred at the West limb. Remarkably, the event was observed by the STEREO/EUVI telescopes and by the HINODE/EIS and SOHO/UVCS spectrometers. We present results from all these instruments. High-cadence (~37 s data from STEREO/EUVI A and B in the He II λ304 line were used to study the 3-D shape and expansion of the prominence. The high spatial resolution EUVI images (~1.5"/pixel have been used to infer via triangulation the 3-D shape and orientation of the prominence 12 min after the eruption onset. At this time the prominence has mainly the shape of a "hook" highly inclined southward, has an average thickness of 0.068 R⊙, a length of 0.43 R⊙ and lies, in first approximation, on a plane. Hence, the prominence is mainly a 2-D structure and there is no evidence for a twisted flux rope configuration. HINODE/EIS was scanning with the 2" slit the region where the filament erupted. The EIS spectra show during the eruption remarkable non-thermal broadening (up to ~100 km s−1 in the region crossed by the filament in spectral lines emitted at different temperatures, possibly with differences among lines from higher Fe ionization stages. The CME was also observed by the SOHO/UVCS instrument: the spectrograph slit was centered at 1.7 R⊙, at a latitude of 5° SW and recorded a sudden increase in the O VI λλ1032–1037 and Si XII λ520 spectral line intensities, representative of the CME front transit.

  5. Bone scintigraphy in polyostotic fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Wadhwa, S.S.; Mansberg, R.; Fernandes, V.B. [Illawarra Regional Hospital, Wollongong, NSW, (Australia)

    1998-03-01

    Fibrous dysplasia is a benign skeletal disorder of unknown aetiology. Fibrous dysplasia characteristically involves the fibrous replacement of portions of the medullary cavities of a single bone (monostotic) or multiple bones (polyostotic). Bones typically involved include the femurs, tibiae, ribs and maxillae. The polyostotic form may be accompanied by skin pigmentation and endocrine abnormalities (McCune Allbright Syndrome). Radiological findings in fibrous dysplasia are variable, ranging from completely radiolucent to radio-opaque lesions, depending on the amount of fibrous or osseous tissue deposited in the medulla. The most common radiographic finding is that of a ground glass-like semi-opaque lesion. Case reports on scintigraphic manifestation of fibrous dysplasia are scanty. We present radiological and scintigraphic findings of polyostotic fibrous dysplasia in a young male. (authors). 3 refs., 1 fig.

  6. Mondini dysplasia with recurrent meningitis.

    Science.gov (United States)

    Lu, M Y; Lee, P I; Lee, C Y; Hsu, C J

    1996-01-01

    Mondini dysplasia is a congenital malformation of the inner ear, commonly associated with hearing impairment, cerebrospinal fluid otorrhea/rhinorrhea and recurrent meningitis. Two such cases are described, with hearing impairment, cerebrospinal fluid rhinorrhea, and several episodes of meningitis. Diagnosis was confirmed by high-resolution computed tomography. After surgical correction of the malformation, there was no recurrent episode of meningitis at subsequent follow-up. To avoid the suffering and the sequelae of recurrent meningitis, an early diagnosis and prompt surgical intervention are crucial for such patients.

  7. Cochlear implantation in Mondini dysplasia.

    Science.gov (United States)

    Daneshi, Ahmad; Hassanzadeh, Saeid; Abasalipour, Parvaneh; Emamdjomeh, Hessamaddin; Farhadi, Mohammad

    2003-01-01

    The use of cochlear implantation to treat patients with inner ear malformations such as Mondini dysplasia has been increasingly successful. Until now, conventional hearing aids in these patients have not performed well. Consequently, the hearing problem for patients with this condition has been somewhat improved with the use of cochlear implants. Various results of cochlear implantation have been reported in these patients so far. This is a report of 5 patients with Mondini malformation who have undergone cochlear implant surgery. Copyright 2003 S. Karger AG, Basel

  8. Hypoxic Episodes in Bronchopulmonary Dysplasia.

    Science.gov (United States)

    Martin, Richard J; Di Fiore, Juliann M; Walsh, Michele C

    2015-12-01

    Hypoxic episodes are troublesome components of bronchopulmonary dysplasia (BPD) in preterm infants. Immature respiratory control seems to be the major contributor, superimposed on abnormal respiratory function. Relatively short respiratory pauses may precipitate desaturation and bradycardia. This population is predisposed to pulmonary hypertension; it is likely that pulmonary vasoconstriction also plays a role. The natural history has been well-characterized in the preterm population at risk for BPD; however, the consequences are less clear. Proposed associations of intermittent hypoxia include retinopathy of prematurity, sleep disordered breathing, and neurodevelopmental delay. Future study should address whether these associations are causal relationships. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. Cleidocranial dysplasia: A family report

    Directory of Open Access Journals (Sweden)

    Chelvan H

    2009-01-01

    Full Text Available A 10-year-old girl presented with a chief complaint of many unerupted teeth. Complete clinical and radiological examination of this patient confirmed the diagnosis of cleidocranial dysplasia (CCD. Her father also presented similar features with a lesser clinical severity. CCD is an autosomal-dominant heritable skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor RUNX2 gene. Failure of tooth eruption is probably mainly due to this mutated gene in CCD patients. Interdisciplinary treatment approach is obligatory for rehabilitation of these patients. In confirmed cases, genetic counseling for family planning should certainly be advised.

  10. Ectodermal dysplasia in identical twins

    Directory of Open Access Journals (Sweden)

    Gurkar Haraswarupa Puttaraju

    2013-01-01

    Full Text Available Hereditary hypohidrotic ectodermal dysplasia (HED is typically inherited as an X-linked recessive trait, characterized by deformity of at least two or more of the ectodermal structures - hair, teeth, nails and sweat glands. Two cases of hereditary HED involving identical male twins, is being documented for the rarity of its occurrence with special attention given to genetics, pathophysiology, clinical, intraoral manifestations and to the methods to improve the masticatory function, the facial esthetics and psychology of patients affected by this disease.

  11. MRI of focal cortical dysplasia

    International Nuclear Information System (INIS)

    Lee, B.C.P.; Hatfield, G.A.; Bourgeois, B.; Park, T.S.

    1998-01-01

    We studied nine cases of focal cortical dysplasia (FCD) by MRI, with surface-rendered 3D reconstructions. One case was also examined using single-voxel proton MR spectroscopy (MRS). The histological features were reviewed and correlated with the MRI findings. The gyri affected by FCD were enlarged and the signal of the cortex was slightly increased on T1-weighted images. The gray-white junction was indistinct. Signal from the subcortical white matter was decreased on T1- and increased on T2-weighted images in most cases. Contrast enhancement was seen in two cases. Proton MRS showed a spectrum identical to that of normal brain. (orig.) (orig.)

  12. US of the hips in skeletal dysplasias and chromosomal aberrations

    International Nuclear Information System (INIS)

    Langer, R.; Langer, M.F.J.; Zwicker, C.

    1987-01-01

    Since January 1984 all newborns and infants with skeletal dysplasias and chromosomal aberrations were investigated by hip US, in addition to plain x-ray surveys. The authors observed one chondroectodermal dysplasia, one congenital spondyloepiphysial dysplasia, one cleidocranial dysplasia, one fibrochondrogenesis, two diastrophic dysplasias, and eight trisomies. The abnormalities of the hip joints could be demonstrated, and were compared with the findings on plain films. Especially skeletal dysplasias with abundant presence of cartilage were well visible. The newborn with trisomies showed normal hip joints. In the authors' opinion, all newborns with skeletal dysplasias should be investigated by hip sonography, in addition to skeletal radiography

  13. Aesthetic Refinements in Patients with Prominent Eyes.

    Science.gov (United States)

    Richter, Dirk F; Schwaiger, Nina; Wiedner, Maria

    2015-12-01

    The treatment of prominent eyes is still a challenging task. As well as the surgery, proper preoperative diagnosis differentiating between patients with and without Graves ophthalmopathy plays an important role. In functionally asymptomatic patients with Graves disease suffering from the aesthetic impairment of prominent eyes, the transpalpebral decompression by intraorbital fat removal technique has been proved to be reliable, effective, safe, and easily performed by a trained and experienced oculoplastic surgeon. This technique provides long-lasting results, leading to improvement not only in visual function but also in personal well-being and in the patient's social life, with a high benefit-to-risk ratio. The most powerful tool to treat the lower lid deformity and malar bags in patients without Graves disease is the subperiosteal midface lift. It shortens the lid-cheek junction and blends the retaining periorbital ligaments. Furthermore, it adds volume to the lower lid and gives a stable support. By the nature of the procedure, it also turns a negative into a positive vector. In experienced hands, Olivari's orbital decompression and Hester's midface lift are ideal options for the treatment of prominent eyes. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  14. Ectodermal dysplasia: otolaryngologic evaluation of 23 cases.

    Science.gov (United States)

    Yildirim, Muzeyyen; Yorgancilar, Ediz; Gun, Ramazan; Topcu, Ismail

    2012-02-01

    The aim of this prospective study was to improve the quality of life of and reduce morbidity for patients with ectodermal dysplasia by assessing their actual and potential ENT pathologies, and offering methods of prevention and treatment. The study was conducted between 2006 and 2008 and included 23 patients diagnosed with ectodermal dysplasia. The major symptoms of ectodermal dysplasia were evaluated. Patient histories were obtained in all cases, and a complete head and neck examination was carried out. Of the 23 patients (11 males and 12 females, aged 5 to 45 years) diagnosed with ectodermal dysplasia, 22 had hypohidrotic ectodermal dysplasia and 1 had ectrodactyly-ectodermal dysplasia-clefting syndrome. In all patients diagnosed with hypohidrotic ectodermal dysplasia, the salivary glands were examined by ultrasonography and, when necessary, by scintigraphy. Hearing defects in patients with otologic problems were determined by audiometric examination: 39.1% of the patients had hearing loss, 43.5% had otitis media, and 39.1% had impacted cerumen. The most common rhinologic findings were saddle nose deformity in 56.5%, nasal obstruction and nasal dryness (52.2% each), and chronic rhinitis/rhinosinusitis (34.8%). The most common oral and oropharyngeal findings were difficulty chewing in 82.6% and dry mouth in 78.3%. All 23 patients had required dental work. Because this disorder affects several aspects of the body, its treatment requires a multidisciplinary approach, with the otolaryngologist being a vital part of the management team.

  15. Multiple Epiphyseal Dysplasia (MED: A Rare Type of Skeletal Dysplasia

    Directory of Open Access Journals (Sweden)

    Mohammad Imnul Islam

    2012-06-01

    Full Text Available Multiple epiphyseal dysplasia (MED is a congenital disorder of skeletal development that primarily affects the ends of long bones, causing progressive joint and bone inflammation and short stature. Mutations in several genes are responsible for pathogenesis of this disease. We are reporting a case of MED who presented with the complaints of multiple swelling of the joints which was associated with pain during movement for last seven years. The patient had flexion deformity of all the affected joints along with restriction of movement. These were associated with kyphosis, pectus carnitum, knock-knee and short stature. Radiological findings were suggestive of MED. Counseling was done with the parents regarding the etiology, progression and outcome of the disease.DOI: http://dx.doi.org/10.3329/bsmmuj.v5i1.11025 BSMMU J 2012; 5(1:57-60 

  16. Anhidrotic ectodermal dysplasia presenting as atrophic rhinitis.

    Science.gov (United States)

    Barman, Debasis; Mandal, Satadal; Nandi, Santanu; Banerjee, Pranabashish; Rashid, M A

    2011-11-01

    Ectodermal dysplasia is a complex group of familial disorders with numerous clinical characteristics, with an incidence of 7 in 10000 born alive children. Ectodermal dysplasia affects structures of ectodermal origin like the skin and its appendages as well as other non-ectodermal structures. The most common sites of involvement are the defects in the skin, hair, teeth, nails and sweat glands,which are of ectodermal origin. Though the dermatologists and paediatricians often manage such cases, we report one case of ectodermal dysplasia presenting with atrophic rhinitis.

  17. Mondini Dysplasia Presenting as Otorrhea without Meningitis

    Directory of Open Access Journals (Sweden)

    Chien-Yu Lin

    2012-12-01

    Full Text Available Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emphasized. Temporal bone computed tomography should be considered in children with unilateral sensorineural or mixed-type hearing impairment.

  18. Mondini dysplasia presenting as otorrhea without meningitis.

    Science.gov (United States)

    Lin, Chien-Yu; Lin, Hung-Ching; Peng, Chun-Chih; Lee, Kuo-Sheng; Chiu, Nan-Chang

    2012-12-01

    Mondini dysplasia is a rare inner ear malformation that is usually only diagnosed after recurrent meningitis. Surgical intervention is mandatory. This report highlights the case of a patient with Mondini dysplasia who presented with hearing impairment and otorrhea and was diagnosed and treated before the occurrence of meningitis, thus preventing morbidity and neurologic sequelae. Hearing impairment may be the only manifestation of Mondini dysplasia, and the benefit of hearing screening is emphasized. Temporal bone computed tomography should be considered in children with unilateral sensorineural or mixed-type hearing impairment. Copyright © 2012. Published by Elsevier B.V.

  19. Cleidocranial Dysplasia: Report of Two Cases

    Directory of Open Access Journals (Sweden)

    Avinash Kshar

    2010-01-01

    Full Text Available Cleidocranial dysplasia constitutes a congenital disorder manifested primarily in the development of facial and cranial bones, as well as partial development or complete absence of the clavicles and problems also arise on the number and eruption of teeth. It is a rare disease with autosomal dominant but 40% cases represented spontaneous mutations. This disease has no sex predilection. It is characterized by a generalized skeletal dysplasia. 1 In this article we are reporting two cases of cleidocranial dysplasia in son and father with characteristic clinical and radiographic features.

  20. Developmental hip dysplasia in adolescence

    Directory of Open Access Journals (Sweden)

    Vukašinović Zoran

    2009-01-01

    Full Text Available The authors define adolescence and developmental dysplasia of the hip (DDH. Special attention is paid to pathological findings characteristic of DDH in adolescence (unrecognized and untreated DDH; treated DDH, but non-terminated treatment; DDH diagnosed with delay, inadequately treated, with complications. The authors emphasise that DDH treatment has to be successfully terminated well before the adolescence; possibilities are explained on management modes at the time of adolescence, and possible persons guilty for the persistence of later hip problems are indicated. Based on the authors' experience and having in mind all surgical possibilities for the treatment (pelvic osteotomies, femoral osteotomies, trochanteroplasties, leg length equalization procedures the authors propose treatment protocols. The intention is to provide better treatment results and to prevent secondary hip arthrosis. Furthermore, how to improve the struggle against DDH is suggested.

  1. Thanatophoric dysplasia: Antenatal to postmortem

    Directory of Open Access Journals (Sweden)

    Chanabasappa V Chavadi

    2015-01-01

    Full Text Available Thanatophoric dwarfism (TD, literally meaning death seeking dwarf, is the most common form of lethal bone dysplasia characterized by severe micromelia, extra folds of skin and narrow chest. Other signs include small ribs, underdeveloped lungs, cloverleaf skull, hypertelorism and protuberant abdomen. A short neck, depressed nasal bridge and hypoplastic mandible may also be present. Hydrocephalus is uncommon but is another poor prognostic sign. The diagnosis is usually made with the ultrasonography in the second trimester. Based on the morphological characters, this condition is sub-divided into type 1 and type 2. Fetuses with this condition are either still-born or die shortly after birth. Antenatal sonographic, postpartum radiological and autopsy findings of a case of type 1 TD with a relatively uncommon association of hydrocephalus is discussed.

  2. Ectodermal Dysplasia Skin Fragility Syndrome

    Directory of Open Access Journals (Sweden)

    Ayça Alan Atalay

    2014-06-01

    Full Text Available Ectodermal dysplasia-skin fragility syndrome (EDSFS is a rare autosomal recessive genodermatosis first described in 1997 by Mc Grath. EDSFS results from loss of function mutations in plakophilin-1 (PKP1. PKP1 is a structural component of desmosomes, cellcell adhesion complexes. It is also found as a nuclear protein in several cell types that are lack of desmosomes. In skin, however, PKP1 expression is confined mainly to suprabasal keratinocytes and the outer root sheath of hair follicules. Loss of function mutation in PKP1 leads to extensive skin fragility, bullae and erosions following minor trauma, focal keratoderma with painful fissures, alopecia, and nail dystrophy. In some patients hypohidrosis may also be seen. EDSFS is now considered as a specific suprabasal form of epidermolysis bullosa simplex. In this report we describe a 20 year old EDSFS case.

  3. LARGE-SCALE FLOWS IN PROMINENCE CAVITIES

    International Nuclear Information System (INIS)

    Schmit, D. J.; Gibson, S. E.; Tomczyk, S.; Reeves, K. K.; Sterling, Alphonse C.; Brooks, D. H.; Williams, D. R.; Tripathi, D.

    2009-01-01

    Regions of rarefied density often form cavities above quiescent prominences. We observed two different cavities with the Coronal Multichannel Polarimeter on 2005 April 21 and with Hinode/EIS on 2008 November 8. Inside both of these cavities, we find coherent velocity structures based on spectral Doppler shifts. These flows have speeds of 5-10 km s -1 , occur over length scales of tens of megameters, and persist for at least 1 hr. Flows in cavities are an example of the nonstatic nature of quiescent structures in the solar atmosphere.

  4. Acro-mesomelic dysplasia - a new type

    International Nuclear Information System (INIS)

    Brahimi, L.; Bacha, L.; Kozlowski, K.; Massen, R.; Zenati, M.

    1988-01-01

    Two siblings who represent a new type of acro-mesomelic dysplasia are reported. The unique pattern of the acro-mesomelic hypoplastic/dysplastic changes allows us to designate as a new syndrome. (orig.)

  5. Andhidrotic ectodermal dysplasia-autosomal recessive form

    Directory of Open Access Journals (Sweden)

    Inamadar Arun

    1994-01-01

    Full Text Available Anhidrotic ectodermal dysplasia with classical features in 2 sisters is reported. The mode of inheritance in these seems to be autosomal recessive; which is a very rare occurrence.

  6. CT Imaging of Craniofacial Fibrous Dysplasia

    Directory of Open Access Journals (Sweden)

    Zerrin Unal Erzurumlu

    2015-01-01

    Full Text Available Fibrous dysplasia is a benign fibroosseous bone dysplasia that can involve single (monostotic or multiple (polyostotic bones. Monostotic form is more frequent in the jaws. It is termed as craniofacial fibrous dysplasia, when it involves, though rarely, adjacent craniofacial bones. A 16-year-old girl consulted for a painless swelling in the right posterior mandible for two years. Panoramic radiography revealed ground-glass ill-defined lesions in the three different regions of the maxilla and mandible. Axial CT scan (bone window showed multiple lesions involving skull base and facial bones. Despite lesions in the skull base, the patient had no abnormal neurological findings. The lesion was diagnosed as fibrous dysplasia based on radiological and histopathological examination. In this paper, CT findings and differential diagnosis of CFD are discussed. CT is a useful imaging technique for CFD cases.

  7. Hydrogen line formation in the quescent prominences

    International Nuclear Information System (INIS)

    Tsovookhuu, Ch.

    1980-01-01

    Equations of transfer and statistical equilibrium for hydronen atom with eight bound levels and continuum are solved simultaneously. A plane-parallel layer located perpendicular to the Sun surface is taken as a geometrical model. Input parameters of the physical model are optical thickness in the center of Hsub(α) line, electron temperature and concentration in the layer center are well as temperature and density gradients. Functions of sources, line profiles, total energies and the Balmer decrements, which are compared with observations and theoretical calculations made by other authors, have been calculated. The comparison shows that the results are quite acceptable and can be used when analyzing the spectrum and determining physical parameters of solar prominences. Dependence of different performances of the line (equivalent width, central intensity, halfwidth, depth of central depression etc.) on values of initial model parameters is investigated. Line halfwidth is more sensitive to the temperatuu value in the layer center, while central intensity - to the value of temperature gradient and a depth of central depression - to electron concentration. Calculated were shares of primary sources responsible for different excitation mechanism depending on total optical thickness as well as mean probabilities of quantum yield out of a medium which can be used during parametric accountancy of radiation diffusion in solar prominences [ru

  8. Bilateral anophthalmia with septo-optic dysplasia

    Directory of Open Access Journals (Sweden)

    Manisha Jana

    2010-01-01

    Full Text Available Bilateral anophthalmia is a rare entity and association with septo-optic dysplasia is an even rare condition. The condition is characterized by absent eyeballs in the presence of eyelids, conjunctiva or lacrimal apparatus. Though anophthalmia can be diagnosed clinically, imaging plays a crucial role in delineating the associated anomalies. In addition, often clinical anophthalmia may prove to be severe microphthalmia on imaging. We describe the imaging findings in an infant with bilateral anophthalmia and septo-optic dysplasia.

  9. Renal dysplasia in a Rhodesian Ridgeback dog

    International Nuclear Information System (INIS)

    Lobetti, R.G.; Pearson, J.; Jimenez, M.

    1996-01-01

    A six-month-old Rhodesian ridgeback dog was presented for evaluation of facial swelling. Chronic renal failure was clinically diagnosed based on urinalysis, biochemical changes and ultrasonography. The facial swelling was due to fibrous osteodystrophy, which was evident on survey radiographs of the skull. On post mortem examination, chronic renal failure as a result of renal dysplasia was confirmed. This is the first reported case of renal dysplasia in this breed of dog

  10. Hip dysplasia and congenital hip dislocation

    Energy Technology Data Exchange (ETDEWEB)

    Lingg, G.; Nebel, G.; von Torklus, D.

    1981-11-01

    In human genetics and orthopedics quite different answers have been given to the question of hereditary transmission and frequency of hip dysplasia in families of children with congenital hip dislocation. We therefore have made roentgenometric measurements of 110 parents of children with congenital hip dislocation. In 25% we found abnormal flat acetabulae, whereas 12% had pathologic deep hips. This may propose a new concept of morphology of congenital hip dysplasia.

  11. Dysplasia epiphysealis hemimelica of the tibial tubercle

    Energy Technology Data Exchange (ETDEWEB)

    Thacker, M.M.; Scully, S.P.; Pitcher, J.D.; Temple, H. Thomas [University of Miami, Department of Orthopedics and Rehabilitation, FL (United States); Azouz, E.M. [University of Miami, Department of Radiology, FL (United States)

    2006-03-15

    Dysplasia epiphysealis hemimelica (DEH) is a rare skeletal dysplasia with epiphyseal involvement first described by Mouchet and Belot in 1926. Lower extremity involvement is common and might involve a single or multiple epiphyses in the affected extremity. We report an unusual case of involvement of the tibial tubercle in a girl aged 4 years 8 months, and we present the clinical, radiographic and pathologic findings. We discuss the role of MRI in the diagnosis and treatment plan. (orig.)

  12. Quality assessment of radiological measurements of trochlear dysplasia; a literature review

    DEFF Research Database (Denmark)

    Paiva, Mathias; Blønd, Lars; Hölmich, Per

    2018-01-01

    screened for their relevance based on predefined parameters, and all measurements showing a statistical association between trochlear dysplasia and patellar instability were presented. Four experts evaluated the quality of the measures using a purpose-made quality scale. RESULTS: The search generated 600...... papers of which eight were chosen for review. Thirty-three unique measurements were identified and described in order of their date of publication. The lateral trochlea inclination was rated highest by the expert panel. The crossing sign, the trochlea bump, the TT-TG distance, the trochlea depth...... and the ventral trochlea prominence also had high ratings. CONCLUSION: Thirty-three unique measurements were identified with the lateral trochlea inclination as the highest rated measurement by the expert panel, and it is recommended for use in assessment of trochlear dysplasia. The crossing sign, the trochlea...

  13. Radiological features of bilateral hereditary micro-epiphyseal dysplasia - a distinct entity in the skeletal dysplasias

    NARCIS (Netherlands)

    Morstert, AK; Dijkstra, PF; van Horn, [No Value; Jansen, BRH; Heutink, P; Lindhout, D

    Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959 [1], is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). Material and Methods: We used the data of the revised pedigree with 84

  14. Flotation process control optimisation at Prominent Hill

    International Nuclear Information System (INIS)

    Lombardi, Josephine; Muhamad, Nur; Weidenbach, M.

    2012-01-01

    OZ Minerals' Prominent Hill copper- gold concentrator is located 130 km south east of the town of Coober Pedy in the Gawler Craton of South Australia. The concentrator was built in 2008 and commenced commercial production in early 2009. The Prominent Hill concentrator is comprised of a conventional grinding and flotation processing plant with a 9.6 Mtpa ore throughput capacity. The flotation circuit includes six rougher cells, an IseMill for regrinding the rougher concentrate and a Jameson cell heading up the three stage conventional cell cleaner circuit. In total there are four level controllers in the rougher train and ten level controllers in the cleaning circuit for 18 cells. Generic proportional — integral and derivative (PID) control used on the level controllers alone propagated any disturbances downstream in the circuit that were generated from the grinding circuit, hoppers, between cells and interconnected banks of cells, having a negative impact on plant performance. To better control such disturbances, FloatStar level stabiliser was selected for installation on the flotation circuit to account for the interaction between the cells. Multivariable control was also installed on the five concentrate hoppers to maintain consistent feed to the cells and to the IsaMill. An additional area identified for optimisation in the flotation circuit was the mass pull rate from the rougher cells. FloatStar flow optimiser was selected to be installed subsequent to the FloatStar level stabiliser. This allowed for a unified, consistent and optimal approach to running the rougher circuit. This paper describes the improvement in the stabilisation of the circuit achieved by the FloatStar level stabiliser by using the interaction matrix between cell level controllers and the results and benefits of implementing the FloatStar flow optimiser on the rougher train.

  15. Expansive focal cemento-osseous dysplasia.

    Science.gov (United States)

    Bulut, Emel Uzun; Acikgoz, Aydan; Ozan, Bora; Zengin, Ayse Zeynep; Gunhan, Omer

    2012-01-01

    To present a case of expansive focal cemento-osseous dysplasia and emphasize the importance of differential diagnosis. Cemento-osseous dysplasia is categorized into three subtypes on the basis of the clinical and radiographic features: Periapical, focal and florid. The focal type exhibits a single site of involvement in any tooth-bearing or edentulous area of the jaws. These lesions are usually asymptomatic; therefore, they are frequently diagnosed incidentally during routine radiographic examinations. Lesions are usually benign, show limited growth, and do not require further surgical intervention, but periodic follow-up is recommended because occasionally, this type of dysplasia progresses into florid osseous dysplasia and simple bone cysts are formed. A 24-year-old female patient was referred to our clinic for swelling in the left edentulous mandibular premolarmolar region and felt discomfort when she wore her prosthetics. She had no pain, tenderness or paresthesia. Clinical examination showed that the swelling in the posterior mandible that was firm, nonfluctuant and covered by normal mucosa. On panoramic radiography and computed tomography, a well defined lesion of approximately 1.5 cm in diameter of mixed density was observed. The swelling increased slightly in size over 2 years making it difficult to use prosthetics and, therefore, the lesion was totally excised under local anesthesia, and surgical specimens were submitted for histopathological examination. The histopathological diagnosis was focal cemento-osseous dysplasia. In the present case, because of the increasing size of the swelling making it difficult to use prosthetics, young age of the patient and localization of the lesion, in the initial examination, cemento-ossifying fibroma was suspected, and the lesion was excised surgically; the histopathological diagnosis confirmed it as focal cemento-osseous dysplasia. We present a case of expansive focal cemento-osseous dysplasia. Differential diagnosis

  16. Locally Aggressive Fibrous Dysplasia Mimicking Malign Calvarial Lesion.

    Science.gov (United States)

    Ogul, Hayri; Keskin, Emine

    2018-05-01

    Fibrous dysplasia is an unusual benign bone tumor. It is divided into 3 groups as monostotic, polyostotic, and craniofacial form. The authors reported an unusual patient with fibrous dysplasia with an aggressive radiologic appearance.

  17. Spondylometaepiphyseal dysplasia in a mother and her child

    Energy Technology Data Exchange (ETDEWEB)

    Pettersson, H; Nilsson, K O [Section of Pediatric Radiology, Department of Diagnostic Radiology, and the Department of Pediatrics, Malmoe Allmaenna Sjukhus, Malmoe, Sweden

    1979-01-01

    Variant types of spondylometaepiphyseal dysplasia in a mother and her child is reported. Several stages of the disorder are presented, demonstrating the principal difficulties in distinguishing variant types of skeletal dysplasia.

  18. Ectodermal dysplasia associated with sickle cell disease.

    Science.gov (United States)

    Volpato, Luiz Evaristo Ricci; Volpato, Maria Carmen Palma Faria; de Carvalhosa, Artur Aburad; Palma, Vinicius Canavarros; Borges, Alvaro Henrique

    2014-01-01

    Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.

  19. Ectodermal Dysplasia Associated with Sickle Cell Disease

    Directory of Open Access Journals (Sweden)

    Luiz Evaristo Ricci Volpato

    2014-01-01

    Full Text Available Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.

  20. Adamantinoma, osteofibrous dysplasia and differentiated adamantinoma

    International Nuclear Information System (INIS)

    Kahn, Leonard B.

    2003-01-01

    For just over 100 years, adamantinoma has been recognized as a primary bone tumor with epithelial characteristics and predominantly involving the tibia. Osteofibrous dysplasia is a fibro-osseous lesion also predominantly confined to the tibia with radiologic features similar to those of adamantinoma. This lesion has been shown by immunohistochemical studies to frequently contain cytokeratin-positive epithelial cells. More recently, a third group of cases with clinical and radiologic features similar to those of osteofibrous dysplasia have demonstrated more overt strands of epithelial cells within a fibro-osseous background and have been categorized as ''differentiated'', ''regressive'', ''juvenile intracortical'' or ''osteofibrous dysplasia-like'' adamantinoma. Cytokeratin subset immunohistochemical stains and cytogenetic studies performed in recent years suggest a common histogenesis for these three entities. This article reviews the clinical, radiologic and pathologic features of these entities as well as their prognostic significance. It also reviews the results of the immunohistochemical and cytogenetic studies which establish a common histogenetic relationship. (orig.)

  1. Variable manifestations of dysplasia epiphysealis hemimelica

    Energy Technology Data Exchange (ETDEWEB)

    Azouz, E.M.; Slomic, A.M.; Marton, D.; Rigault, P.; Finidori, G.

    1985-01-01

    Dysplasia epiphysealis hemimelica (DEH) is an osteocartilaginous overgrowth involving one or multiple epiphyses or ossification centers, usually in a lower extremity on one side of the body. Characteristically the involvement is hemimelic, i.e., either the medial or lateral part of the ossification center is involved. The authors have studied 24 patients with DEH and are adding 15 new cases to the literature. Because of the variable manifestations of the dysplasia and its different degrees of involvement in the affected children, they have subdivided it into localized, classical and generalized. In the generalized form, there is involvement of a whole lower extremity from the pelvis to the foot, and some of these patients show megaepiphyses with enlargement of a whole epiphyseal center, not only its medial or lateral part. The authors have also described and illustrated other special features of the dysplasia especially the advanced bone age and the metaphyseal and growth plate involvement.

  2. The Computational Processing of Intonational Prominence: A Functional Prosody Perspective

    OpenAIRE

    Nakatani, Christine Hisayo

    1997-01-01

    Intonational prominence, or accent, is a fundamental prosodic feature that is said to contribute to discourse meaning. This thesis outlines a new, computational theory of the discourse interpretation of prominence, from a FUNCTIONAL PROSODY perspective. Functional prosody makes the following two important assumptions: first, there is an aspect of prominence interpretation that centrally concerns discourse processes, namely the discourse focusing nature of prominence; and second, the role of p...

  3. Lung volume reduction surgery in bronchopulmonary dysplasia.

    Science.gov (United States)

    Siaplaouras, J; Heckmann, M; Reiss, I; Schaible, T; Waag, K L; Gortner, L

    2003-06-01

    We report on a female preterm infant of 29 wk gestational age, who developed acquired lobar emphysema after prolonged artificial ventilation secondary to respiratory disease syndrome and bronchopulmonary dysplasia. The infant underwent atypical segmentectomy at the age of 12 mo because of life-threatening hypoxaemia with pulmonary hypertension and failure of conservative treatment. Lung volume reduction surgery (LVRS) dramatically improved the respiratory function and resulted in adequate weight gain and psychomotor development. In selected cases LVRS can be an option for lobar emphysema in premature infants with severe bronchopulmonary dysplasia.

  4. Rasmussen's encephalitis presenting as focal cortical dysplasia

    Directory of Open Access Journals (Sweden)

    D.J. O'Rourke

    2014-01-01

    Full Text Available Rasmussen's encephalitis is a rare syndrome characterized by intractable seizures, often associated with epilepsia partialis continua and symptoms of progressive hemispheric dysfunction. Seizures are usually the hallmark of presentation, but antiepileptic drug treatment fails in most patients and is ineffective against epilepsia partialis continua, which often requires surgical intervention. Co-occurrence of focal cortical dysplasia has only rarely been described and may have implications regarding pathophysiology and management. We describe a rare case of dual pathology of Rasmussen's encephalitis presenting as a focal cortical dysplasia (FCD and discuss the literature on this topic.

  5. Rasmussen's encephalitis presenting as focal cortical dysplasia

    Science.gov (United States)

    O'Rourke, D.J.; Bergin, A.; Rotenberg, A.; Peters, J.; Gorman, M.; Poduri, A.; Cryan, J.; Lidov, H.; Madsen, J.; Harini, C.

    2014-01-01

    Rasmussen's encephalitis is a rare syndrome characterized by intractable seizures, often associated with epilepsia partialis continua and symptoms of progressive hemispheric dysfunction. Seizures are usually the hallmark of presentation, but antiepileptic drug treatment fails in most patients and is ineffective against epilepsia partialis continua, which often requires surgical intervention. Co-occurrence of focal cortical dysplasia has only rarely been described and may have implications regarding pathophysiology and management. We describe a rare case of dual pathology of Rasmussen's encephalitis presenting as a focal cortical dysplasia (FCD) and discuss the literature on this topic. PMID:25667877

  6. Sponastrime dysplasia. A radiologic-pathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Lachman, R S; Stoss, H; Spranger, J

    1989-07-01

    The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.).

  7. Sponastrime dysplasia. A radiologic-pathologic correlation

    Energy Technology Data Exchange (ETDEWEB)

    Lachman, R.S.; Stoss, H.; Spranger, J.

    1989-07-01

    The 2nd family with Sponastrime Dysplasia is described. The clinical, radiologic and chondro-osseous morphology of boy and girl siblings are presented. The facial appearance is an 'oriental look' with midface hypoplasia and a saddle nose. The radiological findings include the spinal changes of lordosis, osteoporosis and pear-shaped vertebrae, as well as striated metaphyses (osteopathia striata). The morphological findings suggest a disturbance in the formation of cartilage, with a defect in collagen and proteoglycans synthesis in this rare autosomal recessive skeletal dysplasia. (orig.).

  8. Occipital projections in the skeletal dysplasias

    International Nuclear Information System (INIS)

    Takamine, Yuji; Field, Fiona M.; Lachman, Ralph S.; Rimoin, David L.

    2004-01-01

    Occipital projections of the cranium have been reported in a number of skeletal dysplasias and syndromes. We observed two cases of atelosteogenesis type I with a bony occipital projection. This finding has neither been noted nor reported in any form of atelosteogenesis. This led us to search the International Skeletal Dysplasia Registry for occipital projections, and we found them in four other syndromes in which they had not been reported. Thus occipital spurs are a non-diagnostic feature that can be found in at least ten distinct disorders as well as a normal variant. (orig.)

  9. Prominent Optic Disc Featured in Inherited Retinopathy.

    Science.gov (United States)

    Todorova, M G; Bojinova, R I; Valmaggia, C; Schorderet, D F

    2017-04-01

    Background We investigated the relationship between prominent optic disc (POD) and inherited retinal dystrophy (IRD). Patients and Methods A cross-sectional consecutive study was performed in 10 children and 11 adults of 7 non-related families. We performed clinical phenotyping, including a detailed examination, fundus autofluorescence, and colour fundus and OCT imaging. Genetic testing was subsequently performed for all family members presenting retinal pathology. Results In 4 members of a 3-generation family, hyperfluorescent deposits on the surface of POD were related to a p.(L224M) heterozygous mutation in BEST1 . In the second family, one member presented deposits located on the surface on hyperaemic OD and a compound p.(R141H);(A195V) mutation in BEST1 . In the third family, POD was observed in father and child with early onset cone-rod dystrophy and a novel autosomal recessive p.(W31*) homozygous mutation in ABCA4 . In the fourth family, POD with "mulberry-like" deposits and attenuated vessels were observed in a 7-year old girl, with a mutation in USH1A , and with early onset rod-cone dystrophy, associated with hearing loss. In the fifth family, blurry OD with tortuous vessels was observed in 4 consanguineous female carriers and a hemizygous boy with a p.(R200H) mutation in the X-linked retinoschisis RS1 . In the sixth family, a mother and her son were both affected with POD and attenuated peripapillary vessels, and presented with a p.(Y836C) heterozygous mutation in TOPORS , thus confirming autosomal dominant RP. In the seventh family, in 3 family members with POD, compound p.(L541P;A1038 V);(G1961E) mutations in ABCA4 confirmed the diagnosis of Stargardt disease. Conclusions A variety of OD findings are found in a genetically heterogeneous group of IRDs. In the presence of POD, an inherited progressive photoreceptor disease should be ruled out. Georg Thieme Verlag KG Stuttgart · New York.

  10. Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

    Science.gov (United States)

    Goodwin, Alice F; Larson, Jacinda R; Jones, Kyle B; Liberton, Denise K; Landan, Maya; Wang, Zhifeng; Boekelheide, Anne; Langham, Margaret; Mushegyan, Vagan; Oberoi, Snehlata; Brao, Rosalie; Wen, Timothy; Johnson, Ramsey; Huttner, Kenneth; Grange, Dorothy K; Spritz, Richard A; Hallgrímsson, Benedikt; Jheon, Andrew H; Klein, Ophir D

    2014-09-01

    Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. The X-linked recessive (XL), autosomal recessive (AR), and autosomal dominant (AD) types of HED are caused by mutations in the genes encoding ectodysplasin (EDA1), EDA receptor (EDAR), or EDAR-associated death domain (EDARADD). Patients with HED have a distinctive facial appearance, yet a quantitative analysis of the HED craniofacial phenotype using advanced three-dimensional (3D) technologies has not been reported. In this study, we characterized craniofacial morphology in subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED) by use of 3D imaging and geometric morphometrics (GM), a technique that uses defined landmarks to quantify size and shape in complex craniofacial morphologies. We found that the XLHED craniofacial phenotype differed significantly from controls. Patients had a smaller and shorter face with a proportionally longer chin and midface, prominent midfacial hypoplasia, a more protrusive chin and mandible, a narrower and more pointed nose, shorter philtrum, a narrower mouth, and a fuller and more rounded lower lip. Our findings refine the phenotype of XLHED and may be useful both for clinical diagnosis of XLHED and to extend understanding of the role of EDA in craniofacial development.

  11. Idiosyncratic Presentation of Cemento-Osseous Dysplasia - An in Depth Analysis Using Cone Beam Computed Tomography.

    Science.gov (United States)

    Chennoju, Sai Kiran; Pachigolla, Ramaswamy; Govada, Vanya Mahitha; Alapati, Satish; Balla, Smitha

    2016-05-01

    Bone dysplasias comprise of a condition where the normal bone is replaced with fibrous tissue. Periapical Cemento-Osseous Dysplasia (PCOD) is a benign fibro-osseous condition where bone tissue is supplanted with fibrous tissue and cementum-like material. This condition affects mostly mandibular anterior region and rarely occurs in the maxilla. PCOD is seen above 30 years of age and has slight female predilection. Generally the teeth related to such lesions appear to be vital and are usually asymptomatic. These lesions are mostly seen during routine radiographic examination whose presentation may vary from complete radiolucency to dense radiopacity. The advent of Cone Beam Computed Tomography (CBCT) has brought a massive change in the field of dentistry which has become an important tool for diagnosis. Hence we hereby present an unusual case of cemento-osseous dysplasia in an unfamiliar location with an atypical presentation. The shape of the pathology was completely idiosyncratic and different from an orthodox lesion of COD, as the lesion was observed to grow out of the palatal surface with a prominent palatal expansion. This case highlights the importance of CBCT in radiographic diagnosis and in evaluating the characteristics of such lesion, which present with high diagnostic dilemma.

  12. Signs of helicity in solar prominences and related features

    Science.gov (United States)

    Martin, S.

    This review illustrates several ways to identify the chirality (handedness) of solar prominences (filaments) from their structure and the structure of their surrounding magnetic fields in the chromosphere and corona. For prominences, these structural elements include the axial magnetic field direction, orientation of barbs, and direction of the prominence fine structure. The surrounding structures include the pattern of fibrils beneath the prominences and the pattern of coronal loops above the prominences. These ways of identifying chirality are then interpreted in terms of the formal definitions of helicity to yield a consistent set of one-to-one helicity relationships for all features. The helicity of some prominences can also be independently determined during their eruption by their fine structure, apparent crossings in the line-of-sight of different parts of the same prominence, and by large- scale twist of the prominence structure. Unlike observations of prominences (filaments) observed prior to eruption, in some cases evidence of both signs of helicity are found within the same erupting prominence. This indicates the continued application of forces on the prominences during the eruption process or the possible introduction of force(s) not present during earlier stages of their evolution.

  13. The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain

    Directory of Open Access Journals (Sweden)

    Groza Tudor

    2012-03-01

    Full Text Available Abstract Background Skeletal dysplasias are a rare and heterogeneous group of genetic disorders affecting skeletal development. Patients with skeletal dysplasias suffer from many complex medical issues including degenerative joint disease and neurological complications. Because the data and expertise associated with this field is both sparse and disparate, significant benefits will potentially accrue from the availability of an ontology that provides a shared conceptualisation of the domain knowledge and enables data integration, cross-referencing and advanced reasoning across the relevant but distributed data sources. Results We introduce the design considerations and implementation details of the Bone Dysplasia Ontology. We also describe the different components of the ontology, including a comprehensive and formal representation of the skeletal dysplasia domain as well as the related genotypes and phenotypes. We then briefly describe SKELETOME, a community-driven knowledge curation platform that is underpinned by the Bone Dysplasia Ontology. SKELETOME enables domain experts to use, refine and extend and apply the ontology without any prior ontology engineering experience--to advance the body of knowledge in the skeletal dysplasia field. Conclusions The Bone Dysplasia Ontology represents the most comprehensive structured knowledge source for the skeletal dysplasias domain. It provides the means for integrating and annotating clinical and research data, not only at the generic domain knowledge level, but also at the level of individual patient case studies. It enables links between individual cases and publicly available genotype and phenotype resources based on a community-driven curation process that ensures a shared conceptualisation of the domain knowledge and its continuous incremental evolution.

  14. A three-dimensional model for solar prominences

    International Nuclear Information System (INIS)

    Demoulin, P.; Priest, E.R.; Anzer, U.

    1989-01-01

    Prominences have been modelled largely as one-or two-dimensional structures, and yet observations show them to possess important variations in the third dimension along the prominence axis with great arches with feet reaching down towards the solar surface. As an initial attempt to understand this structure we consider a three-dimensional linear force-free field model for the global magnetic field around a quiescent prominence. It consists of a fundamental together with a harmonic that is periodic along the prominence. At the solar surface there is a series of flux concentrations spaced out periodically on both sides of the prominence. Between a pair of oppositely directed flux concentration, the magnetic field in the prominence is stronger and tends to be less highly sheared than elsewhere. This modulation of the field strength and shear angle along the prominence decreases with height and almost disappears above 10 Mm. Prominence fields that increase with height occur when the shear is large and the length-scale for field variations perpendicular to the prominence exceeds that along it. The variation of the prominence height along the prominence is calculated and it is suggested that feet occur where the prominence sags down to low heights. For prominences of Normal polarity this tends to occur near supergranule centres where the transverse field is least, whereas for those of Inverse polarity it usually takes place near the chromospheric network where the transverse field is greatest. The effect of concentrating the base flux by including extra harmonics is also included. For Normal polarity prominences it tends to make the foot wider, and for Inverse polarity configurations, it usually creates deeper and narrower feet

  15. Simplified Classification of Focal Cortical Dysplasia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2002-09-01

    Full Text Available Sections of cortex from 52 of 224 (23% patients with cortical dysplasia, operated on for drug-resistant partial epilepsy, were retrospectively re-examined histologically at Niguarda Hospital, and Istituto Nazionale Neurologico ‘C. Besta’, Milan, Italy.

  16. Ceramide profile in hypohidrotic ectodermal dysplasia

    DEFF Research Database (Denmark)

    Jungersted, J. M.; Høgh, Julie Kaae; Hellgren, Lars

    2012-01-01

    Background. Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disease. The clinical presentation includes lack of sweating ability, and an often widely spread dermatitis resembling atopic dermatitis (AD). In AD, the skin‐barrier defect is partly ascribed to the altered lipid profile...

  17. Screening for Developmental Dysplasia of the Hip

    NARCIS (Netherlands)

    Boere-Boonekamp, Magdalena M.; Verkerk, Paul H.

    1998-01-01

    The success rates of screening programmes for Developmental Dysplasia of the Hip (DDH) vary widely. Studies on screening programmes for DDH based on a Medline search for the years 1966–1997 are reviewed. The percentage treated in most studies, especially those using ultrasound, are high and suggest

  18. Total hip reconstruction in acetabular dysplasia.

    NARCIS (Netherlands)

    Schller, H.M.; Dalstra, M.; Huiskes, R.; Marti, R.K.

    1993-01-01

    In acetabular dysplasia, fixation of the acetabular component of a cemented total hip prosthesis may be insecure and superolateral bone grafts are often used to augment the acetabular roof. We used finite element analysis to study the mechanical importance of the lateral acetabular roof and found

  19. The patellofemoral joint: from dysplasia to dislocation

    Science.gov (United States)

    Zaffagnini, Stefano; Grassi, Alberto; Zocco, Gianluca; Rosa, Michele Attilo; Signorelli, Cecilia; Muccioli, Giulio Maria Marcheggiani

    2017-01-01

    Patellofemoral dysplasia is a major predisposing factor for instability of the patellofemoral joint. However, there is no consensus as to whether patellofemoral dysplasia is genetic in origin, caused by imbalanced forces producing maltracking and remodelling of the trochlea during infancy and growth, or due to other unknown and unexplored factors. The biomechanical effects of patellofemoral dysplasia on patellar stability and on surgical procedures have not been fully investigated. Also, different anatomical and demographic risk factors have been suggested, in an attempt to identify the recurrent dislocators. Therefore, a comprehensive evaluation of all the radiographic, MRI and CT parameters can help the clinician to assess patients with primary and recurrent patellar dislocation and guide management. Patellofemoral dysplasia still represents an extremely challenging condition to manage. Its controversial aetiology and its complex biomechanical behaviour continue to pose more questions than answers to the research community, which reflects the lack of universally accepted guidelines for the correct treatment. However, due to the complexity of this condition, an extremely personalised approach should be reserved for each patient, in considering and addressing the anatomical abnormalities responsible for the symptoms. Cite this article: EFORT Open Rev 2017;2. DOI: 10.1302/2058-5241.2.160081. Originally published online at www.efortopenreviews.org PMID:28630757

  20. Cochlear implantation in a bilateral Mondini dysplasia.

    Science.gov (United States)

    Turrini, M; Orzan, E; Gabana, M; Genovese, E; Arslan, E; Fisch, U

    1997-01-01

    We report the speech perception progress and programming procedures of a case of congenital profound deafness and bilateral Mondini dysplasia implanted with a Nucleus 20 + 2 cochlear implant at the age of six. Unclear relations between electrodes array and cochlear partition made implant programming difficult and non-standard procedures were set. Cochlear implantation may give excellent rehabilitative results also in cochleae with malformation.

  1. Human papilloma virus infection and cervical dysplasia.

    Science.gov (United States)

    Melinte-Popescu, Alina; Costăchescu, Gh

    2012-01-01

    Pap testing is considered to be the best screening tool for cervical cancer but there is currently great interest in the possible application of human papilloma virus (HPV) testing to supplement Pap screening for cervical cancer. To determine the prevalence of high-risk HPV types in the studied population and to explore the association between high-risk HPV types and cervical dysplasia. Cross-sectional study conducted at the Iasi Cuza Voda Obstetrics-Gynecology Hospital and Suceava County Hospital. 332 women who underwent colposcopy for cervical lesions between 2006 and 2011 were included in this study. The overall prevalence of HPV was 57.23%. HPV prevalence differs significantly in the three age groups up to 50 years. It was highest in patients below the age of 40 and progressively lower with advancing age. The overall prevalence of cervical dysplasia was 56.62%. The prevalence of cervical dysplasia was highest in the age groups up to 40 years. The most important determinant of HPV infection is age. Persistence of HPV appears to be associated with progression to squamous intraepithelial lesion. Dysplasia is often missed in a cervical sample either because of human error in screening and interpretation, or because of suboptimal quality of Pap smear. Incorporation of HPV testing into the present Pap screening program has the potential of making screening for cervical cancer more effective, and a necessary prelude to assessing this is by determining the prevalence of the high-risk types.

  2. A new lethal sclerosing bone dysplasia

    International Nuclear Information System (INIS)

    Kingston, H.M.; Freeman, J.S.; Hall, C.M.

    1991-01-01

    A neonate is described with a lethal sclerosing bone dysplasia associated with prenatal fractures and craniofacial abnormalities including microcephaly, exophthalmos, hypoplastic nose and mid-face, small jaw and nodular hyperplasia of the gums. Parental consanguinity suggests that an autosomal recessive mutation is the likely aetiology. (orig.)

  3. Ureaplasma urealyticum colonization, prematurity and bronchopulmonary dysplasia

    NARCIS (Netherlands)

    vanWaarde, WM; Brus, F; Okken, A; Kimpen, JLL

    The aim of the present study was to determine the association between the presence of Ureaplasma urealyticum in endotracheal aspirates and bronchopulmonary dysplasia (BPD). In addition, a review of similar studies from the English literature is presented. During the period February 1990 until March

  4. Systemic connective tissue features in women with fibromuscular dysplasia.

    Science.gov (United States)

    O'Connor, Sarah; Kim, Esther Sh; Brinza, Ellen; Moran, Rocio; Fendrikova-Mahlay, Natalia; Wolski, Kathy; Gornik, Heather L

    2015-10-01

    Fibromuscular dysplasia (FMD) is a non-atherosclerotic disease associated with hypertension, headache, dissection, stroke, and aneurysm. The etiology is unknown but hypothesized to involve genetic and environmental components. Previous studies suggest a possible overlap of FMD with other connective tissue diseases that present with dissections and aneurysms. The aim of this study was to investigate the prevalence of connective tissue physical features in FMD. A total of 142 FMD patients were consecutively enrolled at a single referral center (97.9% female, 92.1% of whom had multifocal FMD). Data are reported for 139 female patients. Moderately severe myopia (29.1%), high palate (33.1%), dental crowding (29.7%), and early-onset arthritis (15.6%) were prevalent features. Classic connective features such as hypertelorism, cleft palate, and hypermobility were uncommon. The frequency of systemic connective tissue features was compared between FMD patients with a high vascular risk profile (having had ⩾1 dissection and/or ⩾2 aneurysms) and those with a standard vascular risk profile. A history of spontaneous pneumothorax (5.9% high risk vs 0% standard risk) and atrophic scarring (17.6% high risk vs 6.8% standard risk) were significantly more prevalent in the high risk group, pconnective tissue features such as high palate and pneumothorax were more prominent among FMD patients with a high vascular risk profile. © The Author(s) 2015.

  5. Neutral Atom Diffusion in a Partially Ionized Prominence Plasma

    Science.gov (United States)

    Gilbert, Holly

    2010-01-01

    The support of solar prominences is normally described in terms of a magnetic force on the prominence plasma that balances the solar gravitational force. Because the prominence plasma is only partially ionized. it is necessary to consider in addition the support of the neutral component of the prominence plasma. This support is accomplished through a frictional interaction between the neutral and ionized components of the plasma, and its efficacy depends strongly on the degree of ionization of the plasma. More specifically, the frictional force is proportional to the relative flow of neutral and ion species, and for a sufficiently weakly ionized plasma, this flow must be relatively large to produce a frictional force that balances gravity. A large relative flow, of course, implies significant draining of neutral particles from the prominence. We evaluate the importance of this draining effect for a hydrogen-helium plasma, and consider the observational evidence for cross-field diffusion of neutral prominence material,

  6. QUIESCENT PROMINENCES IN THE ERA OF ALMA: SIMULATED OBSERVATIONS USING THE 3D WHOLE-PROMINENCE FINE STRUCTURE MODEL

    Energy Technology Data Exchange (ETDEWEB)

    Gunár, Stanislav; Heinzel, Petr [Astronomical Institute, The Czech Academy of Sciences, 25165 Ondřejov (Czech Republic); Mackay, Duncan H. [School of Mathematics and Statistics, University of St Andrews, North Haugh, St Andrews KY16 9SS (United Kingdom); Anzer, Ulrich [Max-Planck-Institut für Astrophysik, Karl-Schwarzschild-Str. 1, D-85740 Garching bei München (Germany)

    2016-12-20

    We use the detailed 3D whole-prominence fine structure model to produce the first simulated high-resolution ALMA observations of a modeled quiescent solar prominence. The maps of synthetic brightness temperature and optical thickness shown in the present paper are produced using a visualization method for synthesis of the submillimeter/millimeter radio continua. We have obtained the simulated observations of both the prominence at the limb and the filament on the disk at wavelengths covering a broad range that encompasses the full potential of ALMA. We demonstrate here extent to which the small-scale and large-scale prominence and filament structures will be visible in the ALMA observations spanning both the optically thin and thick regimes. We analyze the relationship between the brightness and kinetic temperature of the prominence plasma. We also illustrate the opportunities ALMA will provide for studying the thermal structure of the prominence plasma from the cores of the cool prominence fine structure to the prominence–corona transition region. In addition, we show that detailed 3D modeling of entire prominences with their numerous fine structures will be important for the correct interpretation of future ALMA observations of prominences.

  7. Hypohidrotic and hidrotic ectodermal dysplasia: a report of two cases.

    Science.gov (United States)

    Vasconcelos Carvalho, Marianne; Romero Souto de Sousa, José; Paiva Correa de Melo, Filipe; Fonseca Faro, Tatiane; Nunes Santos, Ana Clara; Carvalho, Silvia; Veras Sobral, Ana Paula

    2013-07-14

    Ectodermal dysplasias are a large group of syndromes characterized by anomalies in the structures of ectodermal origin. There are 2 major types of this disorder, based on clinical findings: hypohidrotic ectodermal dysplasia and hidrotic ectodermal dysplasia. This clinical classification is very important because clinical professionals involved with this disease need first a clear and practical method of diagnosis. The main oral manifestation of ectodermal dysplasia may be expressed as hypodontia. Thus, dental professionals may be the first to diagnose ectodermal dysplasia. The present article reports one case of each of the main types (hypohidrotic and hidrotic) of ectodermal dysplasia and the authors review the literature regarding the pathogenesis, clinical features, and therapeutic management of this condition.

  8. Joint space width in dysplasia of the hip

    DEFF Research Database (Denmark)

    Jacobsen, Steffen; Sonne-Holm, Stig; Søballe, K

    2005-01-01

    In a longitudinal case-control study, we followed 81 subjects with dysplasia of the hip and 136 control subjects without dysplasia for ten years assessing radiological evidence of degeneration of the hip at admission and follow-up. There were no cases of subluxation in the group with dysplasia....... Neither subjects with dysplasia nor controls had radiological signs of ongoing degenerative disease at admission. The primary radiological discriminator of degeneration of the hip was a change in the minimum joint space width over time. There were no significant differences between these with dysplasia...... and controls in regard to age, body mass index or occupational exposure to daily repeated lifting at admission.We found no significant differences in the reduction of the joint space width at follow-up between subjects with dysplasia and the control subjects nor in self-reported pain in the hip...

  9. Prosthodontic management of anhidrotic ectodermal dysplasia

    Directory of Open Access Journals (Sweden)

    Shilpy Gupta

    2011-01-01

    Full Text Available Ectodermal dysplasia is characterized by the absence or defects of two or more ectodermally derived structures. Anodontia or hypodontia is the most striking dental manifestation. In severe hypodontia, there is lack of alveolar development with consequent protrusion and eversion of the lips. Patients with anhidrotic forms suffer from heat intolerance due to lack of sweat glands and mild infections may lead to death in infancy from hyperthermia. A case of a 4-year-old child with anhidrotic ectodermal dysplasia with partial anodontia is presented. Dental, oral, and physical features were taken into consideration in diagnosis and treatment planning for this patient. Clinical management consisted of removable partial prosthesis in maxillary arch and complete denture prosthesis in mandibular arch. The main aim of the treatment was to improve psychological development and to promote better functioning of the stomatognathic system.

  10. Mutations in FLNB cause boomerang dysplasia.

    Science.gov (United States)

    Bicknell, L S; Morgan, T; Bonafé, L; Wessels, M W; Bialer, M G; Willems, P J; Cohn, D H; Krakow, D; Robertson, S P

    2005-07-01

    Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia, characterised by absence or underossification of the limb bones and vertebrae. The BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B. We report the identification of mutations in FLNB in two unrelated individuals with boomerang dysplasia. The resultant substitutions, L171R and S235P, lie within the calponin homology 2 region of the actin binding domain of filamin B and occur at sites that are evolutionarily well conserved. These findings expand the phenotypic spectrum resulting from mutations in FLNB and underline the central role this protein plays during skeletogenesis in humans.

  11. Arrhythmogenic right ventricular dysplasia: A case report

    Directory of Open Access Journals (Sweden)

    Tessa Negrín Valdés

    2015-10-01

    Full Text Available Arrhythmogenic right ventricular dysplasia is a heart muscle disease that predominantly affects the right ventricle, bringing about the replacement of normal myocardium with fatty or fibrofatty tissue and causing sudden death in young individuals. Ventricular tachycardia is an important clinical manifestation, although there are reports of right or global heart failure. The diagnosis is confirmed by echocardiography and magnetic resonance imaging. The case of a 65-year-old former smoker, with hypertension and ischemic heart disease, a history of effort syncope symptoms and proven non-sustained ventricular tachycardia, with morphology of left bundle branch block, is reported. Relevant diagnostic studies were performed, and echocardiographic elements which were compatible with arrhythmogenic right ventricular dysplasia were found. Therefore, an implantable cardioverter defibrillator was implanted, after which the patient has had a favorable outcome.

  12. MRA of fibromuscular dysplasia in cervical vessels

    International Nuclear Information System (INIS)

    Link, J.; Steffens, J.C.; Mueller-Huelsbeck, S.; Brossmann, J.; Heller, M.

    1996-01-01

    In 386 selective angiograms of cervical vessels fibromuscular dysplasia was revealed in 4 female patients in the age of 30-54 years. FMD was located in the carotid artery (n=5) and in the vertebral artery (n=2) with a total of 8 lesions. 6/8 of the lesions of the seven cervical vessels were located typically in the mid cervical portion of the vessels and 2/6 lesions were located in the atlas loop of the vertebral artery. 4 lesions showed moderate stenosis and 4 vessels showed only mild stenosis. These patterns which demonstrated the typical morphology of fibromuscular dysplasia with alternating irregular zones of widening and narrowing were evaluated well with MR angiography, the others were missed. (orig./MG) [de

  13. Study of a Large Helical Eruptive Prominence Associated with ...

    Indian Academy of Sciences (India)

    2001-04-21

    Apr 21, 2001 ... morphology of the event, energy budget of the prominence and associated. CMEs. ... magnetically driven and internally powered. Key words. ... Solar prominences are ribbons of cool (∼8000 K) dense gas (∼10. −11 gcm. −3. ) ...

  14. KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia

    KAUST Repository

    Shamseldin, Hanan E.; Khalifa, Ola; Binamer, Yousef M.; Almutawa, Abdulmonem; Arold, Stefan T.; Zaidan, Hamad; Alkuraya, Fowzan S.

    2016-01-01

    Ectodermal dysplasia is a highly heterogeneous group of disorders that variably affect the derivatives of the ectoderm, primarily skin, hair, nails and teeth. TP63, itself mutated in ectodermal dysplasia, links many other ectodermal dysplasia

  15. Fetal MR imaging of Kniest dysplasia

    International Nuclear Information System (INIS)

    Yazici, Zeynep; Kline-Fath, Beth M.; Laor, Tal; Tinkle, Bradley T.

    2010-01-01

    We present a case of Kniest dysplasia, a rare form of the type II collagenopathies, with prenatal MRI. Sonography revealed only short limbs in the fetus. Fetal MRI findings included enlarged hyaline cartilaginous structures with abnormally high T2 signal intensity, delayed ossification of the pubic and ischial bones, and platyspondyly. By delineating the cartilaginous abnormalities, fetal MRI can contribute to the prenatal diagnosis of chondrodysplasias. (orig.)

  16. MR imaging features of craniodiaphyseal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Marden, Franklin A. [Mallinckrodt Institute of Radiology, Washington University Medical Center, 510 South Kingshighway Blvd., MO 63110, St. Louis (United States); Department of Radiology, St. Louis Children' s Hospital, Children' s Place, MO 63110, St. Louis (United States); Wippold, Franz J. [Mallinckrodt Institute of Radiology, Washington University Medical Center, 510 South Kingshighway Blvd., MO 63110, St. Louis (United States); Department of Radiology, St. Louis Children' s Hospital, Children' s Place, MO 63110, St. Louis (United States); Department of Radiology/Nuclear Medicine, F. Edward Hebert School of Medicine, Uniformed Services University of the Health Sciences, MD 20814, Bethesda (United States)

    2004-02-01

    We report the magnetic resonance (MR) imaging findings in a 4-year-old girl with characteristic radiographic and computed tomography (CT) features of craniodiaphyseal dysplasia. MR imaging exquisitely depicted cranial nerve compression, small foramen magnum, hydrocephalus, and other intracranial complications of this syndrome. A syrinx of the cervical spinal cord was demonstrated. We suggest that MR imaging become a routine component of the evaluation of these patients. (orig.)

  17. Bilateral anophthalmia with septo-optic dysplasia

    OpenAIRE

    Jana, Manisha; Sharma, Sanjay

    2010-01-01

    Bilateral anophthalmia is a rare entity and association with septo-optic dysplasia is an even rare condition. The condition is characterized by absent eyeballs in the presence of eyelids, conjunctiva or lacrimal apparatus. Though anophthalmia can be diagnosed clinically, imaging plays a crucial role in delineating the associated anomalies. In addition, often clinical anophthalmia may prove to be severe microphthalmia on imaging. We describe the imaging findings in an infant with bilateral ano...

  18. Distinctive skeletal dysplasia in Cockayne syndrome

    International Nuclear Information System (INIS)

    Silengo, M.C.; Franceschini, P.; Bianco, R.; Biagioli, M.; Pastorin, L.; Vista, N.; Baldassar, A.; Benso, L.

    1986-01-01

    Cockayne syndrom is a well-known autosomal recessive form of dwarfism with senile-like appearance. Skeletal changes such as flattening of vertebral bodies, ivory epiphyses and thickening of cranial vault, have been observed in some patients with this condition. We describe here a 5.5-year-old girl with the typical clinical signs of Cockayne syndrome and a distinctive form of bone dysplasia with major involvment of the spine. (orig.)

  19. Distinctive skeletal dysplasia in Cockayne syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Silengo, M.C.; Franceschini, P.; Bianco, R.; Biagioli, M.; Pastorin, L.; Vista, N.; Baldassar, A.; Benso, L.

    1986-03-01

    Cockayne syndrome is a well-known autosomal recessive form of dwarfism with senile-like appearance. Skeletal changes such as flattening of vertebral bodies, ivory epiphyses and thickening of cranial vault, have been observed in some patients with this condition. We describe here a 5.5-year-old girl with the typical clinical signs of Cockayne syndrome and a distinctive form of bone dysplasia with major involvement of the spine.

  20. Fetal MR imaging of Kniest dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Yazici, Zeynep [Uludag University, Faculty of Medicine, Department of Radiology, Gorukle (Turkey); Kline-Fath, Beth M.; Laor, Tal [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Tinkle, Bradley T. [Cincinnati Children' s Hospital Medical Center, Division of Human Genetics, Cincinnati, OH (United States)

    2010-03-15

    We present a case of Kniest dysplasia, a rare form of the type II collagenopathies, with prenatal MRI. Sonography revealed only short limbs in the fetus. Fetal MRI findings included enlarged hyaline cartilaginous structures with abnormally high T2 signal intensity, delayed ossification of the pubic and ischial bones, and platyspondyly. By delineating the cartilaginous abnormalities, fetal MRI can contribute to the prenatal diagnosis of chondrodysplasias. (orig.)

  1. Malignant transformation of fibrous dysplasia into chondroblastic osteosarcoma

    International Nuclear Information System (INIS)

    Kaushik, Shaifali; Smoker, Wendy R.K.; Frable, William J.

    2002-01-01

    A case of malignant transformation of polyostotic fibrous dysplasia into maxillary chondroblastic osteosarcoma is presented. The clinical, radiographic, CT, MR imaging features and pathological findings of polyostotic fibrous dysplasia and its malignant transformation are described. Malignant transformation of fibrous dysplasia is rare and has not previously been described in the English literature in this location in McCune-Albright syndrome and in the absence of radiation treatment. (orig.)

  2. Bizarre cell dysplasia of the cervix.

    Science.gov (United States)

    Ondič, Ondrej; Ferko, Radoslav; Kašpírková, Jana; Švajdler, Marián; Rýchly, Boris; Talarčík, Peter; Bouda, Jiří; Michal, Michal

    2017-02-01

    The aim of this study was the characterization of a new subtype of high-grade cervical squamous intraepithelial lesion (HSIL) with enlarged cells containing bizarre nuclei: so-called bizarre cell dysplasia (BCD). A total of 29 cervical cone biopsy samples of this type of dysplasia were studied. Multi-target polymerase chain reaction and in situ hybridization human papillomavirus (HPV) detection was performed in all cases. BCD was defined as a subtype of HSIL characterized by the presence of large dysplastic cells with abnormal, large pleomorphic nuclei or multinucleation causing nucleomegaly. This results in bizarre nuclear shapes. Bizarre cells are scattered throughout the whole thickness of the dysplastic squamous epithelium. The BCD lesions arise within the conventional/classic high grade or "bland" type squamous dysplasia HSIL. Statistically they were significantly associated with HVP type 16. A significant association with other studied viruses (Herpes simplex virus [HSV]1, HSV2, Varicella zoster virus, Epstein-Barr virus, cytomegalovirus, human herpesvirus 6, and human polyomaviruses BK and JC) was not confirmed. BCD involves cytologically characteristic morphologic changes that are recognizable, but which may pose some risk of misdiagnosis as low-grade squamous intraepithelial lesion due to the enlargement of dysplastic cells and multinucleation. Based on the unique histological, cytological and biological features of BCD including strong association with HPV 16 infection, we believe that this is a specific, and so far unrecognized variant of HSIL. © 2017 Japan Society of Obstetrics and Gynecology.

  3. Florid osseous dysplasia of the jaws

    International Nuclear Information System (INIS)

    Cho, Su Beom; Koh, Kwang Joon

    1995-01-01

    Few cases of florid osseous dysplasia has been described as a condition that characteristically affects the jaws. It usually manifests as multiple radiopaque masses distributed throughout the jaws. Confusion exists about the relationship of florid osseous dysplasia, gigantiform cementoma, chronic sclerosing osteomyelitis, sclerosing osteitis or multiple enostosis. Authors experienced a case of florid osseous dysplasia of the jaws in 52-year-old female on the basis of clinical, radiographic and histopathologic findings. The characteristic features are as follows: 1. In clinical examination, there was no clinical sign and symptoms except extrated area. And there was no facial asymmetry. 2. Radiograms show round or lobular dense radiopaque masses surrounded by radiolucent bands in lower molar teeth area bilaterally. And slight increased radiopacities in maxillary molar teeth area bilaterllay. There was no expansion or thinning of buccal and lingual cortical bones. There is no displacement or resorption of involved teeth. In right side of mandible, mandibular canal is displaced inferiorly due to mass. 3. Photomicrograms show densely mineralized sclerotic acellular masses with empty lacunae. Pattern is suggestive of cementum, although it could be considered sclerotic bone. In the periphery, lesion consisting of moderately cellular fibrous tissue in calcified products are deposited.

  4. MAGNETIC FIELD IN ATYPICAL PROMINENCE STRUCTURES: BUBBLE, TORNADO, AND ERUPTION

    Energy Technology Data Exchange (ETDEWEB)

    Levens, P. J.; Labrosse, N. [SUPA School of Physics and Astronomy, University of Glasgow, Glasgow G12 8QQ (United Kingdom); Schmieder, B. [LESIA, Observatoire de Paris, PSL Research University, CNRS, Sorbonne Universités, UPMC Univ. Paris 06, Univ. Paris Diderot, Sorbonne Paris Cité, 5 place Jules Janssen, F-92195 Meudon (France); López Ariste, A. [IRAP—CNRS UMR 5277, 14, Av. E. Belin, F-31400 Toulouse (France); Dalmasse, K. [CISL/HAO, National Center for Atmospheric Research, P.O. Box 3000, Boulder, CO 80307-3000 (United States); Gelly, B., E-mail: p.levens.1@research.gla.ac.uk, E-mail: brigitte.schmieder@obspm.fr [CNRS UMR 3718 THEMIS, La Laguna, Tenerife (Spain)

    2016-08-01

    Spectropolarimetric observations of prominences have been obtained with the THEMIS telescope during four years of coordinated campaigns. Our aim is now to understand the conditions of the cool plasma and magnetism in “atypical” prominences, namely when the measured inclination of the magnetic field departs, to some extent, from the predominantly horizontal field found in “typical” prominences. What is the role of the magnetic field in these prominence types? Are plasma dynamics more important in these cases than the magnetic support? We focus our study on three types of “atypical” prominences (tornadoes, bubbles, and jet-like prominence eruptions) that have all been observed by THEMIS in the He i D{sub 3} line, from which the Stokes parameters can be derived. The magnetic field strength, inclination, and azimuth in each pixel are obtained by using the inversion method of principal component analysis on a model of single scattering in the presence of the Hanle effect. The magnetic field in tornadoes is found to be more or less horizontal, whereas for the eruptive prominence it is mostly vertical. We estimate a tendency toward higher values of magnetic field strength inside the bubbles than outside in the surrounding prominence. In all of the models in our database, only one magnetic field orientation is considered for each pixel. While sufficient for most of the main prominence body, this assumption appears to be oversimplified in atypical prominence structures. We should consider these observations as the result of superposition of multiple magnetic fields, possibly even with a turbulent field component.

  5. Treatment of oral dysplasia with 5% imiquimod cream: short communication.

    Science.gov (United States)

    Mullins, R; Ansell, M; Laverick, S

    2016-11-01

    We report what we think is the first treatment of oral dysplasia with 5% imiquimod cream. A 60-year-old man presented with varying degrees of dysplasia on the soft palate. A cover plate was fabricated and the patient was prescribed 5% imiquimod cream, a topical imunomodulator, for six weeks. The lesion improved and histological examination of an incisional biopsy found no features of dysplasia. This case highlights the efficacy of imiquimod cream in the treatment of dysplasia, and the need for development of a preparation suitable for the oral mucosa. Copyright © 2016. Published by Elsevier Ltd.

  6. The role of the acetabular labrum in hip dysplasia

    DEFF Research Database (Denmark)

    Hartig-Andreasen, Charlotte; Søballe, Kjeld; Troelsen, Anders

    2013-01-01

    A periacetabular osteotomy (PAO) is the preferred joint preserving treatment for young adults with symptomatic hip dysplasia and no osteoarthritis. In symptomatic dysplasia of the hip, there is labral pathology in up to 90% of cases. However, no consensus exists as to whether a labral tear should...... be treated before the periacetabular osteotomy (PAO), treated simultaneously with the PAO, or left alone and only treated if symptoms persist after the PAO. This review is an update of aspects of labral anatomy and function, the etiology of labral tears in hip dysplasia, and diagnostic assessment of labral...... tears, and we discuss treatment strategies for coexisting labral tears and hip dysplasia....

  7. Focal cemento-osseous dysplasia: review and a case report.

    Science.gov (United States)

    Salem, Y M Y; Osman, Y I; Norval, E J G

    2010-10-01

    Focal cemento-osseous dysplasia is a benign fibro-osseous condition that can be seen in dentate and edentulous patients. It is an asymptomatic lesion and needs no treatment; however follow-up is essential due to the possibility that focal cemento-osseous dysplasia can progress to a condition called florid osseous dysplasia that involves multiple sites. A case report is presented here, along with a review of the differential diagnoses considered in order to reach a final diagnosis of focal cemento-osseous dysplasia.

  8. Comparison of three methods to diagnose hip dysplasia in dogs

    International Nuclear Information System (INIS)

    Sharma, Vikas; Mohindroo, J.

    2009-01-01

    The present study was designed to compare the usefulness of goniometry, radiography and distraction index in diagnosis of hip dysplasia in dogs. During the study 25 clinical cases (50 joints) suspected for hip dysplasia were evaluated. Norberg angle was found to have a significant positive correlation with extension, flexion, abduction, and adduction angles and a significant negative correlation with distraction index (DI) measurements. It could be inferred that all the six parameters (NA, DI, extension, flexion, abduction, and adduction) were reliable indicators for early diagnosis of hip dysplasia.Goniometry could be used as a safe and easy method for preliminary suspicion of hip dysplasia

  9. [Mondini dysplasia: traumatic cerebrospinal fluid otorrhea with meningitis].

    Science.gov (United States)

    Kaftan, H; Adamaszek, M; Hosemann, W

    2006-08-01

    Mondini dysplasia is a rare malformation of the inner ear commonly associated with loss of hearing and vestibular function. Children with Mondini dysplasia are predisposed to developing a spontaneous cerebrospinal fluid (CSF) leak and recurrent meningitis. If there is no CSF leak but a unilateral hearing loss, the condition may go undiagnosed for years. We describe a 65-year-old man with unrecognized unilateral Mondini dysplasia who presented with CSF leak and meningoencephalitis after minor head trauma. Two operative interventions were undertaken to close the defect properly. Patients with Mondini dysplasia or their parents should be cautioned about the potential hazards of any head trauma.

  10. The Ectodermal Dysplasias : Severe Palmoplantar Hyperkeratosis And Chronic Angular Cheilitis

    Directory of Open Access Journals (Sweden)

    Mahajan Vikram K

    2003-01-01

    Full Text Available The ectodermal dysplasias are congenital, non-progressive and diffuse disorders affecting primarily the tissues derived from ectoderm. Over a period, their classification has become confusing due to indiscriminate use of them “ectodermal dysplasia” for numerous syndromes with a defect in one or more epidermal defect in each element of skin; their precise classification appears difficult as yet. Only X-linked recessive ectodermal dysplasia (Christ-Siemens-Touraine syndrome remains best defined. This paper describes three cases of ectodermal dysplasias highlighting their overlapping features.

  11. Osseous dysplasia (cemento-osseous dysplasia) of the jaw bones in western Pennsylvania patients: analysis of 35 cases.

    Science.gov (United States)

    Owosho, Adepitan A; Potluri, Anitha; Bilodeau, Elizabeth A

    2013-01-01

    The purpose of this study is to analyze the demographic, clinical, and radiographic presentations of osseous dysplasia of the jaws in western Pennsylvania patients and its associated complications. The clinical records and radiographs of patients diagnosed with osseous (cement-osseous) dysplasia were retrieved from the electronic health record of the University of Pittsburgh, School of Dental Medicine from 2007 to 2012. All cases were reviewed; the WHO criteria and classification for osseous dysplasia was used. Clinical and demographic data, radiographic findings, and final diagnoses were collected and analyzed. 35 cases of osseous dysplasia were retrieved over the six-year period.The majority (33) were females [94.3%], with ages ranging from 26 to 89 years, with a mean age of 53.9 years +/- standard deviation of 15.6 years, 32 [91.4%] were African Americans and 3 [8.6%] were Caucasians. 17 [48.6%] were florid osseous dysplasia, 13 [37.1%] periapical osseous dysplasia and 5 [14.3%] focal osseous dysplasia. Of the 35 patients only 8 [22.9%] patients were symptomatic. All florid osseous dysplasia patients were African American females, with 7 of the patients being symptomatic and the commonest symptom being pain. Also, all periapical osseous dysplasia patients were African Americans (12 females and 1 male), with 1 of the patients presenting with widening of the diastema. Of the focal osseous dysplasia patients, 3 were Caucasians and 2 African American (4 females and 1 male). The cases occurred mostly in African American females with a peak incidence in the fifth and sixth decades of life; most cases occurred in the mandible. The commonest form of osseous dysplasias was the florid osseous dysplasia which is most likely to present with symptoms.

  12. Cleidocranial dysplasia: Report of 4 cases and review

    Directory of Open Access Journals (Sweden)

    Virender Gombra

    2008-01-01

    Full Text Available Patients with cleidocranial dysplasia commonly present with significant dental problems such as retention of multiple deciduous teeth, impaction or delay in eruption of permanent teeth and often, the presence of supernumerary teeth. We report 4 cases of 2 families presenting with cleidocranial dysplasia disorder with their clinical and radiological diagnosis and illustrating its pathogenesis and various treatment modalities, review of literatures.

  13. Marfan syndrome with multiseptate pneumothorax and mandibular fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Kate A

    2009-01-01

    Full Text Available We describe a rare case of pneumothorax due to Marfan syndrome associated with fibrous dysplasia of the mandible. Marfan syndrome and fibrous dysplasia were possibly due to a common etiological factor. The association between the two and other tumors described in literature related to Marfan syndrome is discussed.

  14. Prevalence of Cervical Dysplasia among Women in Kano Municipal ...

    African Journals Online (AJOL)

    Fifty-seven women had cervical dysplasia giving a prevalence rate of 10.63%. Of the 57 women with cervical dysplasia, 21 (36.8%) had a low grade squamous intraepithelial lesions (LGSIL), while 36(63.2%) had a high grade squamous intraepithelial lesion (HGSIL). The disease was higher in grand multiparous clients ...

  15. Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy

    NARCIS (Netherlands)

    Sousa, Sérgio B.; Russell-Eggitt, Isabelle; Hall, Christine; Hall, Bryan D.; Hennekam, Raoul C. M.

    2008-01-01

    There are several entities that combine a skeletal dysplasia with a retinal dystrophy. Recently, another possibly autosomal recessive entity was added to this group characterized by a specific spondylometaphyseal dysplasia and a cone-rod dystrophy, without other significant impairments. The entity

  16. The Possible Relationship Between Mammary Dysplasia and Breast ...

    African Journals Online (AJOL)

    Aim: There is need to resolve the continuing difficult question regarding the possible relationship between mammary dysplasia and breast cancer. Method: This is a 30-year study of the incidences of both mammary dysplasia and breast cancer occurring among the Igbos, a major ethnic group in Nigeria, West Africa. Results: ...

  17. Joint space width in dysplasia of the hip

    DEFF Research Database (Denmark)

    Jacobsen, Steffen; Sonne-Holm, Stig; Søballe, K

    2005-01-01

    . Neither subjects with dysplasia nor controls had radiological signs of ongoing degenerative disease at admission. The primary radiological discriminator of degeneration of the hip was a change in the minimum joint space width over time. There were no significant differences between these with dysplasia...

  18. Knee radiography in the diagnosis of skeletal dysplasias

    International Nuclear Information System (INIS)

    Kwee, Thomas C.; Beek, Frederik J.A.; Nievelstein, Rutger A.J.; Beemer, Frits A.

    2006-01-01

    Flattening of the epiphyses of long bones is seen in several skeletal dysplasias and standardized measurements on a radiograph of the knee to detect skeletal dysplasias using this feature have been described. Since then only two other studies in which this method was used have been published, and both included only a small number of children and neither had a control group. In addition, the Dutch National Working Group on Skeletal Dysplasias began to have doubts about the reliability of the method. We therefore decided to re-evaluate its accuracy in a population of children with and without a skeletal dysplasia. To determine the diagnostic value of standardized measurements on conventional AP radiographs of the knee in children with a skeletal dysplasia. Subjects and methods: We measured the distal femoral metaphysis and epiphysis according to the published method on conventional AP radiographs of the knee in 45 healthy children and 52 children with a skeletal dysplasia. We compared graphically the height of the distal femoral epiphysis with its width and with the width of the femoral metaphysis. Receiver operating characteristic (ROC) curves were calculated for each group of children. All graphs showed a considerable overlap between children with a skeletal dysplasia and healthy children. The size of the area under the ROC curves for the different groups was small, varying between 0.567 and 0.653. This method does not discriminate between children with a skeletal dysplasia and healthy children. We therefore consider it to be of little diagnostic value. (orig.)

  19. Management of high-grade dysplasia in Barrett's esophagus.

    Science.gov (United States)

    Palley, S L; Sampliner, R E; Garewal, H S

    1989-08-01

    When Barrett's esophagus is complicated by adenocarcinoma, surgery is indicated in appropriate patients. Until now, high-grade dysplasia in Barrett's esophagus has been managed in a similar fashion. We explore this approach and review reported cases of high-grade dysplasia to suggest guidelines for collection of data to make future clinical decisions more rational.

  20. A STATISTICAL STUDY OF TRANSVERSE OSCILLATIONS IN A QUIESCENT PROMINENCE

    Energy Technology Data Exchange (ETDEWEB)

    Hillier, A. [Kwasan and Hida Observatories, Kyoto University, Kyoto 607-8471 (Japan); Morton, R. J. [Mathematics and Information Science, Northumbria University, Pandon Building, Camden Street, Newcastle upon Tyne NE1 8ST (United Kingdom); Erdélyi, R., E-mail: andrew@kwasan.kyoto-u.ac.jp [Solar Physics and Space Plasma Research Centre (SP2RC), University of Sheffield, Hicks Building, Hounsfield Road, Sheffield S3 7RH (United Kingdom)

    2013-12-20

    The launch of the Hinode satellite has allowed for seeing-free observations at high-resolution and high-cadence making it well suited to study the dynamics of quiescent prominences. In recent years it has become clear that quiescent prominences support small-amplitude transverse oscillations, however, sample sizes are usually too small for general conclusions to be drawn. We remedy this by providing a statistical study of transverse oscillations in vertical prominence threads. Over a 4 hr period of observations it was possible to measure the properties of 3436 waves, finding periods from 50 to 6000 s with typical velocity amplitudes ranging between 0.2 and 23 km s{sup –1}. The large number of observed waves allows the determination of the frequency dependence of the wave properties and derivation of the velocity power spectrum for the transverse waves. For frequencies less than 7 mHz, the frequency dependence of the velocity power is consistent with the velocity power spectra generated from observations of the horizontal motions of magnetic elements in the photosphere, suggesting that the prominence transverse waves are driven by photospheric motions. However, at higher frequencies the two distributions significantly diverge, with relatively more power found at higher frequencies in the prominence oscillations. These results highlight that waves over a large frequency range are ubiquitous in prominences, and that a significant amount of the wave energy is found at higher frequency.

  1. A STATISTICAL STUDY OF TRANSVERSE OSCILLATIONS IN A QUIESCENT PROMINENCE

    International Nuclear Information System (INIS)

    Hillier, A.; Morton, R. J.; Erdélyi, R.

    2013-01-01

    The launch of the Hinode satellite has allowed for seeing-free observations at high-resolution and high-cadence making it well suited to study the dynamics of quiescent prominences. In recent years it has become clear that quiescent prominences support small-amplitude transverse oscillations, however, sample sizes are usually too small for general conclusions to be drawn. We remedy this by providing a statistical study of transverse oscillations in vertical prominence threads. Over a 4 hr period of observations it was possible to measure the properties of 3436 waves, finding periods from 50 to 6000 s with typical velocity amplitudes ranging between 0.2 and 23 km s –1 . The large number of observed waves allows the determination of the frequency dependence of the wave properties and derivation of the velocity power spectrum for the transverse waves. For frequencies less than 7 mHz, the frequency dependence of the velocity power is consistent with the velocity power spectra generated from observations of the horizontal motions of magnetic elements in the photosphere, suggesting that the prominence transverse waves are driven by photospheric motions. However, at higher frequencies the two distributions significantly diverge, with relatively more power found at higher frequencies in the prominence oscillations. These results highlight that waves over a large frequency range are ubiquitous in prominences, and that a significant amount of the wave energy is found at higher frequency

  2. Cerebral infarction attributable to cerebrovascular fibromuscular dysplasia

    International Nuclear Information System (INIS)

    Shimazaki, Haruo

    2008-01-01

    Fibromuscular dysplasia (FMD) is a noninflammatory, nonatheromatous segmental angiopathy. The renal arteries are affected most commonly, followed by the internal carotid and vertebral arteries. FMD of the internal carotid and vertebral arteries usually occurs in the extracranial portions and is mostly observed at the level of the second cervical vertebra. FMD of the intracranial arteries is rare, but tends to occur in children and young adults. FMD is more common in females than in males, and it is often observed in middle-aged women. Although the etiology of FMD is not well understood, several mechanisms have been proposed, such as genetic predisposition, hormonal factors, and arterial wall ischemia. The pathology of FMD is characterized by smooth muscle hyperplasia or thinning, elastic fiber destruction, fibrous tissue proliferation, and arterial wall disorganization. Cerebrovascular fibromuscular dysplasia (cFMD) is relatively rare in Japan but is regarded as one of the cardinal causes of stroke in the younger population. cFMD without complications causes nonspecific symptoms such as headache or vertigo, but when it results in an arterial dissection or aneurysm, it leads to cerebral infarction or subarachnoid hemorrhage. Conventional angiographic findings mostly reveal a pattern called the 'string of beads', which is pathologically correlated to medial fibromuscular dysplasia. Doppler echography, computed tomography and magnetic resonance angiography (MRA) may be useful for detecting cFMD lesions in some cases. MRA should be performed to rule out the presence of intracranial aneurysms. Antiplatelet and anticoagulation agents are prophylactics against cFMD complications. Surgical treatments such as graduated intraluminal dilatation had previously been the mainstays for treating cFMD. Percutaneous transluminal angioplasty with or without stenting has now become the preferred invasive treatment for symptomatic cFMD. (author)

  3. Renal dysplasia and MRI: a clinician's perspective

    Energy Technology Data Exchange (ETDEWEB)

    Greenbaum, Larry A. [Emory University, Division of Pediatric Nephrology, Children' s Healthcare of Atlanta, Atlanta, GA (United States)

    2008-01-15

    Renal dysplasia is a common abnormality in children. The role of MRI in evaluating children with renal dysplasia is evolving. More information is clearly necessary before MRI replaces conventional imaging modalities. In order to appropriately use MRI, the radiologist must have an understanding of the clinical questions that are important in the management of children with renal dysplasia. This review provides background information on renal dysplasia for the pediatric radiologist. The focus is on unilateral disease, especially multicystic dysplastic kidneys, and bilateral dysplasia, which is the most common cause of kidney failure in children. The emphasis is on the important clinical issues, and the potential of MRI as a methodology for providing clinically useful information not otherwise available from other imaging modalities. (orig.)

  4. Dyssegmental dysplasia in siblings: Prenatal ultrasonic diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Andersen, P.E. Jr.; Hauge, M.; Bang, J.

    1988-01-01

    Two cases of dyssegmental dysplasia (type Silverman-Handmaker) in siblings are presented. The first-born died at the age of 3 months and the second fetus was followed during pregnancy with ultrasound examinations. In the 20th week of gestation marked shortening of the extremities was found; a female infant showing the same radiologic bony malformations as the firstborn was born by cesarean section. These cases support the autosomal recessive inheritance and demonstrate the possibility of prenatal diagnosis in this type of micromelic dwarfism. (orig.)

  5. Autosomal dominant craniometaphyseal dysplasia with atypical features.

    Science.gov (United States)

    McKay, D R; Fialkov, J A

    2002-03-01

    Craniometaphyseal dysplasia (CMD) is a rare genetic disorder of bone modelling characterised by hyperostosis and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses. Clinically, autosomal dominant (AD) CMD is characterised by facial distortion and cranial-nerve compression. The goals of surgical treatment for AD CMD are cosmetic recontouring of the sclerotic craniofacial bones, correction of nasal obstruction and correction or prevention of neurological manifestations. We describe the successful correction of AD CMD craniofacial manifestations in an individual with atypical findings, and outline an approach for correcting the craniofacial deformities associated with this rare disorder. Copyright 2002 The British Association of Plastic Surgeons.

  6. Fibromuscular Dysplasia Presenting with Bilateral Renal Infarction

    International Nuclear Information System (INIS)

    Doody, O.; Adam, W. R.; Foley, P. T.; Lyon, S. M.

    2009-01-01

    Fibromuscular dysplasia (FMD) describes a group of conditions which cause nonatheromatous arterial stenoses, most commonly of the renal and carotid arteries, typically in young women. We report a rare case of bilateral segmental renal infarction secondary to FMD in a young male patient. His initial presentation with loin pain and pyrexia resulted in a delay in the definitive diagnosis of FMD. He was successfully treated with bilateral balloon angioplasty. The delayed diagnosis in this patient until the condition had progressed to bilateral renal infarcts highlights the need for prompt investigation and diagnosis of suspected cases of FMD.

  7. Isolation and characterization of the human CDX1 gene: A candidate gene for diastrophic dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Bonner, C.; Loftus, S.; Wasmuth, J.J. [Univ. of California, Irvine, CA (United States)

    1994-09-01

    Diastrophic dysplasia is an autosomal recessive disorder characterized by short stature, dislocation of the joints, spinal deformities and malformation of the hands and feet. Multipoint linkage analysis places the diastrophic dysplasia (DTD) locus in 5q31-5q34. Linkage disequilibrium mapping places the DTD locus near CSFIR in the direction of PDGFRB (which is tandem to CSFIR). This same study tentatively placed PDGFRB and DTD proximal to CSFIR. Our results, as well as recently reported work from other laboratories, suggest that PDGFRB (and possibly DTD) is distal rather than proximal to CSFIR. We have constructed a cosmid contig covering approximately 200 kb of the region containing CSFIR. Several exons have been {open_quotes}trapped{close_quotes} from these cosmids using exon amplification. One of these exons was trapped from a cosmid isolated from a walk from PDGFRB, approximately 80 kb from CSFIR. This exon was sequenced and was determined to be 89% identical to the nucleotide sequence of exon two of the murine CDX1 gene (100% amino acid identity). The exon was used to isolate the human CDX gene. Sequence analysis of the human CDX1 gene indicates a very high degree of homology to the murine gene. CDX1 is a caudal type homeobox gene expressed during gastrulation. In the mouse, expression during gastrulation begins in the primitive streak and subsequently localizes to the ectodermal and mesodermal cells of the primitive streak, neural tube, somites, and limb buds. Later in gastrulation, CDX1 expression becomes most prominent in the mesoderm of the forelimbs, and, to a lesser extent, the hindlimbs. CDX1 is an intriguing candidate gene for diastrophic dysplasia. We are currently screening DNA from affected individuals and hope to shortly determine whether CDX1 is involved in this disorder.

  8. Two Categories of Apparent Tornado-like Prominences

    Science.gov (United States)

    Martin, Sara F.; Venkataramanasastry, Aparna

    2014-06-01

    Two categories of solar prominences have been described in the literature as having a pattern of mass motions and/or a shape similar to terrestrial tornados. We first identify the two categories associated with prominences in the historic literature and then show that counterparts do exist for both in recent literature but one has not been called a tornado prominence. One category described as being similar to tornados is associated with the barbs of quiescent filaments but barbs appear to have rotational motion only under special conditions. H alpha Doppler observations from Helio Research confirm that this category is an illusion in our mind’s eye resulting from counterstreaming in the large barbs of quiescent filaments. The second category is a special case of rotational motion occurring during the early stages of some erupting prominences, in recent years called the roll effect in erupting prominences. In these cases, the eruption begins with the sideways rolling of the top of a prominence. As the eruption proceeds the rolling motion propagates down one leg or both legs of an erupting prominence depending on whether the eruption is asymmetric or symmetric respectively. As an asymmetric eruption proceeds, the longer lasting leg becomes nearly vertical and has true rotational motion. If only this phase of the eruption was observed, as in the historic cases, it was called a tornado prominence and spectra recorded in these cases provide proof of the rotational motion. When one observes an entire eruption which exhibits the rolling motion, as accomplished at Helio Research, the similarity to a tornado is lost because the event as a whole has quite a different nature and the analogy to a terrestrial tornado not longer appears suitable or helpful in understanding the observed and deduced physical processes. Our conclusion is that there are no solar prominences with motions that are usefully described as tornado or tornado-like events aside from the fun of observing

  9. Fibrous dysplasia with cartilaginous differentiation (''fibrocartilaginous dysplasia''): a review, with an illustrative case followed for 18 years

    International Nuclear Information System (INIS)

    Kyriakos, Michael; McDonald, Douglas J.; Sundaram, Murali

    2004-01-01

    A 21-year-old man with an 18-year history of progressive, and deforming, monomelic fibrous dysplasia with massive cartilaginous differentiation (fibrocartilaginous dysplasia) is described. A review is made of all prior reported examples of this entity in the English language medical literature. The radiologic and histologic differential diagnoses are described, distinguishing the lesion from chondrosarcoma and from fibrocartilaginous mesenchymoma. (orig.)

  10. DNA Fingerprinting Abnormalities Can Distinguish Ulcerative Colitis Patients with Dysplasia and Cancer from Those Who Are Dysplasia/Cancer-Free

    Science.gov (United States)

    Chen, Ru; Rabinovitch, Peter S.; Crispin, David A.; Emond, Mary J.; Koprowicz, Kent M.; Bronner, Mary P.; Brentnall, Teresa A.

    2003-01-01

    Patients with extensive ulcerative colitis (UC) of longer than 8 years duration are at high risk for the development of colorectal cancer. The cancers in these patients appear to develop in a stepwise manner with progressive histological changes from negative for dysplasia → indefinite for dysplasiadysplasia → cancer. The aim of this study was to determine the timing and extent of genomic instability in the progression of UC dysplasia and cancer. Using two polymerase chain reaction (PCR)-based DNA fingerprinting methods, arbitrarily primed PCR and intersimple sequence repeat PCR, we assessed DNA sequence variation in biopsies across the spectrum of cancerous, dysplastic, and nondysplastic mucosa. UC patients with dysplasia/cancer had substantial genomic instability in both their dysplastic and nondysplastic colonic mucosa, whereas instability was not present in the majority of UC patients without dysplasia/cancer. The degree of instability in nondysplastic tissue was similar to that of dysplastic/cancerous mucosa from the same patient, suggesting that this instability was widespread and reached the maximum level early in neoplastic progression. These results suggest that UC patients who develop dysplasia or cancer have an underlying process of genomic instability in their colonic mucosa whereas UC patients who are dysplasia-free do not. PMID:12547724

  11. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    The Relative Effects of Paternal and Maternal age in Mongolism (Published on J. Genet. ... of the Schizosaccharomyces pombe Ste11p regulator of sexual development .... X-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.

  12. Idiosyncratic Presentation of Cemento-Osseous Dysplasia – An in Depth Analysis Using Cone Beam Computed Tomography

    Science.gov (United States)

    Pachigolla, Ramaswamy; Govada, Vanya Mahitha; Alapati, Satish; Balla, Smitha

    2016-01-01

    Bone dysplasias comprise of a condition where the normal bone is replaced with fibrous tissue. Periapical Cemento-Osseous Dysplasia (PCOD) is a benign fibro-osseous condition where bone tissue is supplanted with fibrous tissue and cementum-like material. This condition affects mostly mandibular anterior region and rarely occurs in the maxilla. PCOD is seen above 30 years of age and has slight female predilection. Generally the teeth related to such lesions appear to be vital and are usually asymptomatic. These lesions are mostly seen during routine radiographic examination whose presentation may vary from complete radiolucency to dense radiopacity. The advent of Cone Beam Computed Tomography (CBCT) has brought a massive change in the field of dentistry which has become an important tool for diagnosis. Hence we hereby present an unusual case of cemento-osseous dysplasia in an unfamiliar location with an atypical presentation. The shape of the pathology was completely idiosyncratic and different from an orthodox lesion of COD, as the lesion was observed to grow out of the palatal surface with a prominent palatal expansion. This case highlights the importance of CBCT in radiographic diagnosis and in evaluating the characteristics of such lesion, which present with high diagnostic dilemma. PMID:27437374

  13. Experiences of young women living with developmental dysplasia of the hip: insight into their experiences of surgery and recovery.

    Science.gov (United States)

    Gambling, Tina S; Long, Andrew F

    2013-03-01

    To explore the experiences of young women with developmental dysplasia of the hip explicating the impact of peri-acetabular osteotomy surgery and recovery in the short and longer term. Postings of five, selected women on an online active message board aimed at women with developmental dysplasia of the hip were analysed. Interest lay on their postings after they had had peri-acetabular osteotomy surgery. Data analysis was performed through the approach of interpretive phenomenological analysis. The time length of the postings for the cases ranged from 1 year to 6 years, and the number of postings varied substantially, from 48 to 591. Two major concepts were prominent across participants' accounts. The first concept, 'body image', centred on affects on the women's self-esteem and body image. The second, 'the long road to recovery', highlighted 'the emotional and physical battle of learning to walk' and concerns with 'saving my joints'. Developmental dysplasia of the hip potentially provides a critical case for exploration of the process of how a disability can affect confidence, self-esteem and body image. Recovery from this condition requires enormous effort, resilience and commitment from the women.

  14. Upper-extremity phocomelia reexamined: a longitudinal dysplasia.

    Science.gov (United States)

    Goldfarb, Charles A; Manske, Paul R; Busa, Riccardo; Mills, Janith; Carter, Peter; Ezaki, Marybeth

    2005-12-01

    In contrast to longitudinal deficiencies, phocomelia is considered a transverse, intercalated segmental dysplasia. Most patients demonstrate severe, but not otherwise classifiable, upper-extremity deformities, which usually cannot be placed into one of three previously described phocomelia groups. Additionally, these phocomelic extremities do not demonstrate true segmental deficits; the limb is also abnormal proximal and distal to the segmental defect. The purpose of this investigation was to present evidence that upper-extremity abnormalities in patients previously diagnosed as having phocomelia in fact represent a proximal continuum of radial or ulnar longitudinal dysplasia. The charts and radiographs of forty-one patients (sixty extremities) diagnosed as having upper-extremity phocomelia were reviewed retrospectively. On the basis of the findings on the radiographs, the disorders were categorized into three groups: (1) proximal radial longitudinal dysplasia, which was characterized by an absent proximal part of the humerus, a nearly normal distal part of the humerus, a completely absent radius, and a radial-sided hand dysplasia; (2) proximal ulnar longitudinal dysplasia, characterized by a short one-bone upper extremity that bifurcated distally and by severe hand abnormalities compatible with ulnar dysplasia; and (3) severe combined dysplasia, with type A characterized by an absence of the forearm segment (i.e., the radius and ulna) and type B characterized by absence of the arm and forearm (i.e., the hand attached to the thorax). Twenty-nine limbs in sixteen patients could be classified as having proximal radial longitudinal dysplasia. Systemic medical conditions such as thrombocytopenia-absent radius syndrome were common in those patients, but additional musculoskeletal conditions were rare. Twenty limbs in seventeen patients could be classified as having proximal ulnar longitudinal dysplasia. Associated musculoskeletal abnormalities, such as proximal femoral

  15. Arrhythmogenic right ventricular dysplasia: MRI findings

    International Nuclear Information System (INIS)

    Wall, E.E. van der; Bootsma, M.M.; Schalij, M.J.; Kayser, H.W.M.; Roos, A. de

    2000-01-01

    Arrhythmogenic right ventricular dysplasia (ARVD) is a heart muscle disorder of unknown cause that is characterized pathologically by fibrofatty replacement of the right ventricular myocardium. Clinical manifestations include structural and functional malformations of the right ventricle, electrocardiographic abnormalities, and presentation with ventricular tachycardias with left bundle branch pattern or sudden death. The disease is often familial with an autosomal inheritance. In addition to right ventricular dilatation, right ventricular aneurysms are typical deformities of ARVD and they are distributed in the so-called ''triangle of dysplasia'', i. e., right ventricular outflow tract, apex, and infundibulum. Ventricular aneurysms at these sites can be considered pathognomonic of ARVD. Another typical hallmark of ARVD is fibrofatty infiltration of the right ventricular free wall. These functional and morphologic characteristics are relevant to clinical imaging investigations such as contrast angiography, echocardiography, radionuclide angiography, ultrafast computed tomography, and magnetic resonance imaging (MRI). Among these techniques, MRI allows the clearest visualization of the heart, in particular because the right ventricle is involved, which is usually more difficult to explore with the other imaging modalities. Furthermore, MRI offers the specific advantage of visualizing adipose infiltration as a bright signal of the right ventricular myocardium. MRI provides the most important anatomic, functional, and morphologic criteria for diagnosis of ARVD within one single study. As a result, MRI appears to be the optimal imaging technique for detecting and following patients with clinical suspicion of ARVD. (orig.) [de

  16. Mondini dysplasia and congenital cytomegalovirus infection.

    Science.gov (United States)

    Bauman, N M; Kirby-Keyser, L J; Dolan, K D; Wexler, D; Gantz, B J; McCabe, B F; Bale, J F

    1994-01-01

    We report a case of bilateral temporal bone anomalies in a child with symptomatic congenital cytomegalovirus infection and severe, bilateral sensorineural hearing loss identified at 3 months of age. High-resolution temporal bone computed tomography (HRCT) revealed bilateral findings of a short, malformed cochlea lacking an interscalar septum, a short and wide internal auditory canal, and an enlarged vestibular aqueduct, features diagnostic of bilateral Mondini dysplasia. To determine the importance of this observation, we completed HRCT in five additional children between 7 months and 9 years of age who had evidence of symptomatic congenital cytomegalovirus infection. One child with profound sensorineural hearing loss had severe bilateral temporal bone dysplasia with a small cochlea lacking an interscalar septum, an abnormal vestibule, and a large cochlear aqueduct. Of the remaining four children, hearing thresholds ranged from normal to profoundly decreased, but their HRCT scans were normal to visual inspection. When inner ear dimensions of these temporal bones were compared with norms established by Pappas and coworkers, however, seven of the eight ears had short cochleas and narrow lateral semicircular canals, and three ears had short or narrow vestibules. These results indicate that congenital cytomegalovirus infection may cause anomalies or growth disturbances of the temporal bone.

  17. Placental Mesenchymal Dysplasia: A Case Report

    Directory of Open Access Journals (Sweden)

    Rachna Agarwal

    2012-01-01

    Full Text Available Introduction. A rare case of histologically proven placental mesenchymal dysplasia (PMD with fetal omphalocele in a 22-year-old patient is reported. Material and Methods. Antenatal ultrasound of this patient showed hydropic placenta with a live fetus of 17 weeks period of gestation associated with omphalocele. Cordocentesis detected the diploid karyotype of the fetus. Patient, when prognosticated, choose to terminate the pregnancy in view of high incidence of fetal and placental anomalies. Subsequent histopathological examination of placenta established the diagnosis to be placental mesenchymal dysplasia. Conclusion. On clinical and ultrasonic grounds, suspicion of P.M.D. arises when hydropic placenta with a live fetus presents in second trimester of pregnancy. Cordocentesis can detect the diploid karyotype of the fetus in such cases. As this condition is prognostically better than triploid partial mole, continuation of pregnancy can sometimes be considered after through antenatal screening and patient counseling. However, a definite diagnosis of P.M.D. is made only on placental histology by absence of trophoblast hyperplasia and trophoblastic inclusions.

  18. Septo-optic dysplasia with pachygyria

    Directory of Open Access Journals (Sweden)

    Abhay A Lune

    2014-01-01

    Full Text Available Optic nerve hypoplasia can be associated with other central nervous system malformations. When associated with the absence of the septum pellucidum or thinning of corpus callosum and pituitary hypoplasia, it is termed septo-optic dysplasia. Pachygyria is a rare congenital disorder characterized by a defect in migration of cerebral neurons resulting in failure of cortical gyri to develop.We report a case of a young learning-disabled male presenting with decreased vision, nystagmus, esotropia,, and seizures since childhood. Fundoscopy revealed bilateral optic nerve hypoplasia. Growth hormone levels were reduced. Magnetic resonance imaging revealed thinned optic nerves, optic chiasma and pituitary infundibulum, absent septum pellucidum, box-shaped ventricles and right frontal cortical thickening with few and broad gyri.This case report highlights a rare case of septo-optic dysplasia with pachygyria. It also emphasizes that every patient with optic nerve hypoplasia should have an endocrinal and neurological evaluation and neuro-radiographic imaging for associated abnormalities.

  19. ON THE MAGNETISM AND DYNAMICS OF PROMINENCE LEGS HOSTING TORNADOES

    International Nuclear Information System (INIS)

    Martínez González, M. J.; Ramos, A. Asensio; Arregui, I.; Collados, M.; Beck, C.; Rodríguez, J. de la Cruz

    2016-01-01

    Solar tornadoes are dark vertical filamentary structures observed in the extreme ultraviolet associated with prominence legs and filament barbs. Their true nature and relationship to prominences requires an understanding of their magnetic structure and dynamic properties. Recently, a controversy has arisen: is the magnetic field organized forming vertical, helical structures or is it dominantly horizontal? And concerning their dynamics, are tornadoes really rotating or is it just a visual illusion? Here we analyze four consecutive spectro-polarimetric scans of a prominence hosting tornadoes on its legs, which helps us shed some light on their magnetic and dynamical properties. We show that the magnetic field is very smooth in all the prominence, which is probably an intrinsic property of the coronal field. The prominence legs have vertical helical fields that show slow temporal variation that is probably related to the motion of the fibrils. Concerning the dynamics, we argue that (1) if rotation exists, it is intermittent, lasting no more than one hour, and (2) the observed velocity pattern is also consistent with an oscillatory velocity pattern (waves).

  20. ON THE MAGNETISM AND DYNAMICS OF PROMINENCE LEGS HOSTING TORNADOES

    Energy Technology Data Exchange (ETDEWEB)

    Martínez González, M. J.; Ramos, A. Asensio; Arregui, I.; Collados, M. [Instituto de Astrofísica de Canarias, Vía Láctea s/n, E-38205 La Laguna, Tenerife (Spain); Beck, C. [National Solar Observatory, Sacramento Peak P.O. Box 62, Sunspot, NM 88349 (United States); Rodríguez, J. de la Cruz [Institute for Solar Physics, Department of Astronomy, Stockholm University, Albanova University Center, SE-10691 Stockholm (Sweden)

    2016-07-10

    Solar tornadoes are dark vertical filamentary structures observed in the extreme ultraviolet associated with prominence legs and filament barbs. Their true nature and relationship to prominences requires an understanding of their magnetic structure and dynamic properties. Recently, a controversy has arisen: is the magnetic field organized forming vertical, helical structures or is it dominantly horizontal? And concerning their dynamics, are tornadoes really rotating or is it just a visual illusion? Here we analyze four consecutive spectro-polarimetric scans of a prominence hosting tornadoes on its legs, which helps us shed some light on their magnetic and dynamical properties. We show that the magnetic field is very smooth in all the prominence, which is probably an intrinsic property of the coronal field. The prominence legs have vertical helical fields that show slow temporal variation that is probably related to the motion of the fibrils. Concerning the dynamics, we argue that (1) if rotation exists, it is intermittent, lasting no more than one hour, and (2) the observed velocity pattern is also consistent with an oscillatory velocity pattern (waves).

  1. Solar Tornado Prominences: Plasma Motions Along Filament Barbs

    Science.gov (United States)

    Panasenco, Olga; Velli, Marco; Martin, Sara F.; Rappazzo, Franco

    2013-03-01

    Recent high-resolution observations from the Solar Dynamic Observatory (SDO) have reawakened interest in the old and fascinating phenomenon of solar tornado prominences. This class of prominences was first introduced by E. Pettit in 1932, who studied them over many years up to 1950. High resolution and high cadence multi-wavelength data obtained by SDO reveal that the tornado-like properties of these prominences are mainly an illusion due to projection effects. We show that counterstreaming plasma motions with projected velocities up to +/- 45 km/sec along the prominence spine and barbs create a tornado-like impression when viewed at the limb. We demonstrate that barbs are often rooted at the intersection between 4-5 supergranular cells. We discuss the observed oscillations along the vertical parts of barbs and whether they may be related to vortex flows coming from the convection downdrafts at the intersection of supergranules (and possibly smaller convective cells) in the photosphere and their entrained magnetic field. The unwinding of magnetic threads near the photosphere via reconnection might be a source of the waves which are observed as oscillations in prominence barbs.

  2. Bilateral multicystic renal dysplasia with potter sequence: A case with penile agenesis

    International Nuclear Information System (INIS)

    Dursun, Ahmet; Ermis, Bahri; Bahadir, Burak; Seckiner, Ilker

    2006-01-01

    Hereditary renal adysplasia (HRA) is rare autosomal dominant condition. Patients have several other anomalies including Potter facies, thoracic, cardiac, and extremity deformities. The case present dysmorphic facial features such as hypertelorism, prominent epicanthic folds, a flat and broad nose, choanal stenosis, low set ears and a receding chin. He had femoral bowing, hypoplastic right tibia and agenesis of the right foot. He had rich and thin skin. He had also a dysplastic empty scrotum, penile agenesis, and anal atresia. The autopsy revealed pulmonary hypoplasia, ventricular septal defect, bilateral multicystic renal dysplasia, agenesis of ureter and bladder, intraabdominal testicles, and a single umbilical artery. The penile agenesis was first reported, and including the consanguinity in the parents might further delineate the bilateral multicystic HRA. Vater/caudal regression anomalies, Mullerian duct/aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies association and Coloboma, heart anomaly, choanal atresia, retardation, retardation, genital and ear anomalies syndrome has been considered in differential diagnosis. (author)

  3. A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia.

    Science.gov (United States)

    Henningsen, Emil; Svendsen, Mathias Tiedemann; Lildballe, Dorte Launholt; Jensen, Peter Kjestrup Axel

    2014-08-01

    We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous nasal discharge. The girl was the second born child of first-cousin immigrants from Northern Iraq. A novel homozygous mutation (c.84delC) in the EDAR gene was identified. This mutation most likely causes a frameshift in the protein product (p.S29fs*74). This results in abolition of all ectodysplasin-mediated NF-kB signalling. This complete loss-of-function mutation likely accounts for the severe clinical abnormalities in ectodermal structures in the described patient. © 2014 Wiley Periodicals, Inc.

  4. Reconnection–Condensation Model for Solar Prominence Formation

    Energy Technology Data Exchange (ETDEWEB)

    Kaneko, Takafumi [Institute for Space-Earth Environmental Research, Nagoya University, Furo-cho, Chikusa-ku, Nagoya, Aichi 464-8601 (Japan); Yokoyama, Takaaki, E-mail: kaneko@isee.nagoya-u.ac.jp [Department of Earth and Planetary Science, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-0033 (Japan)

    2017-08-10

    We propose a reconnection–condensation model in which topological change in a coronal magnetic field via reconnection triggers radiative condensation, thereby resulting in prominence formation. Previous observational studies have suggested that reconnection at a polarity inversion line of a coronal arcade field creates a flux rope that can sustain a prominence; however, they did not explain the origin of cool dense plasmas of prominences. Using three-dimensional magnetohydrodynamic simulations, including anisotropic nonlinear thermal conduction and optically thin radiative cooling, we demonstrate that reconnection can lead not only to flux rope formation but also to radiative condensation under a certain condition. In our model, this condition is described by the Field length, which is defined as the scale length for thermal balance between radiative cooling and thermal conduction. This critical condition depends weakly on the artificial background heating. The extreme ultraviolet emissions synthesized with our simulation results have good agreement with observational signatures reported in previous studies.

  5. Relationship between flexible flat foot and developmental hip dysplasia.

    Science.gov (United States)

    Ponce de León Samper, M C; Herrera Ortiz, G; Castellanos Mendoza, C

    2015-01-01

    To evaluate the possible relationship between flexible flat foot and developmental hip dysplasia in children between six and 15 years of age. Cross-sectional study including 65 patients that had undergone surgery due to residual hip dysplasia or hip dislocation and compared against 75 healthy patients. Flexible flat foot prevalence was measured in each group, with the results showing that 61% of the group with residual hip dysplasia or hip dislocation had this condition, vs. 12% in the healthy group. The statistical analysis shows that the chances of suffering from flexible flat foot, are five times greater in the hip dysplasia or hip dislocation group, than in the healthy group. There is no evidence in the literature showing a relationship between these two conditions, even though they have a common etiology. This study shows a potential measurable relation between this two conditions. Patients with hip dysplasia or dislocation may have a higher chance of presenting flexible flat foot during late childhood, adolescence and adulthood, a fact that suggests a relationship between these two pathologies. Also, patients who seek assistance for the first time because of a flexible flat foot condition without having been evaluated during the first year of life for hip dysplasia, would be better off if evaluated for residual hip dysplasia. Copyright © 2014 SECOT. Published by Elsevier Espana. All rights reserved.

  6. Expanding the phenome and variome of skeletal dysplasia.

    Science.gov (United States)

    Maddirevula, Sateesh; Alsahli, Saud; Alhabeeb, Lamees; Patel, Nisha; Alzahrani, Fatema; Shamseldin, Hanan E; Anazi, Shams; Ewida, Nour; Alsaif, Hessa S; Mohamed, Jawahir Y; Alazami, Anas M; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Monies, Dorota; Al Tassan, Nada; Alshammari, Muneera; Alsagheir, Afaf; Seidahmed, Mohammed Zain; Sogati, Samira; Aglan, Mona S; Hamad, Muddathir H; Salih, Mustafa A; Hamed, Ahlam A; Alhashmi, Nadia; Nabil, Amira; Alfadli, Fatima; Abdel-Salam, Ghada M H; Alkuraya, Hisham; Peitee, Winnie Ong; Keng, W T; Qasem, Abdullah; Mushiba, Aziza M; Zaki, Maha S; Fassad, Mahmoud R; Alfadhel, Majid; Alexander, Saji; Sabr, Yasser; Temtamy, Samia; Ekbote, Alka V; Ismail, Samira; Hosny, Gamal Ahmed; Otaify, Ghada A; Amr, Khalda; Al Tala, Saeed; Khan, Arif O; Rizk, Tamer; Alaqeel, Aida; Alsiddiky, Abdulmonem; Singh, Ankur; Kapoor, Seema; Alhashem, Amal; Faqeih, Eissa; Shaheen, Ranad; Alkuraya, Fowzan S

    2018-04-05

    PurposeTo describe our experience with a large cohort (411 patients from 288 families) of various forms of skeletal dysplasia who were molecularly characterized.MethodsDetailed phenotyping and next-generation sequencing (panel and exome).ResultsOur analysis revealed 224 pathogenic/likely pathogenic variants (54 (24%) of which are novel) in 123 genes with established or tentative links to skeletal dysplasia. In addition, we propose 5 genes as candidate disease genes with suggestive biological links (WNT3A, SUCO, RIN1, DIP2C, and PAN2). Phenotypically, we note that our cohort spans 36 established phenotypic categories by the International Skeletal Dysplasia Nosology, as well as 18 novel skeletal dysplasia phenotypes that could not be classified under these categories, e.g., the novel C3orf17-related skeletal dysplasia. We also describe novel phenotypic aspects of well-known disease genes, e.g., PGAP3-related Toriello-Carey syndrome-like phenotype. We note a strong founder effect for many genes in our cohort, which allowed us to calculate a minimum disease burden for the autosomal recessive forms of skeletal dysplasia in our population (7.16E-04), which is much higher than the global average.ConclusionBy expanding the phenotypic, allelic, and locus heterogeneity of skeletal dysplasia in humans, we hope our study will improve the diagnostic rate of patients with these conditions.GENETICS in MEDICINE advance online publication, 5 April 2018; doi:10.1038/gim.2018.50.

  7. Static current-sheet models of quiescent prominences

    Science.gov (United States)

    Wu, F.; Low, B. C.

    1986-12-01

    A particular class of theoretical models idealize the prominence to be a discrete flat electric-current sheet suspended vertically in a potential magnetic field. The weight of the prominence is supported by the Lorentz force in the current sheet. These models can be extended to have curved electric-current sheets and to vary three-dimensionally. The equation for force balance is 1 over 4 pi (del times B) times Bdel p- p9 z=zero. Using Cartesian coordinates we take, for simplicity, a uniform gravity with constant acceleration g in the direction -z. If we are interested not in the detailed internal structure of the prominence, but in the global magnetic configuration around the prominence, we may take prominence plasma to be cold. Consideration is given to how such equilibrium states can be constructed. To simplify the mathematical problem, suppose there is no electric current in the atmosphere except for the discrete currents in the cold prominence sheet. Let us take the plane z =0 to be the base of the atmosphere and restrict our attention to the domain z greater than 0. The task we have is to solve for a magnetic field which is everywhere potential except on some free surface S, subject to suit able to boundary conditions. The surface S is determined by requiring that it possesses a discrete electric current density such that the Lorentz force on it is everywhere vertically upward to balance the weight of the material m(S). Since the magnetic field is potential in the external atmosphere, the latter is decoupled from the magnetic field and its plane parallel hydrostatic pressure and density can be prescribed.

  8. Solar Prominence Modelling and Plasma Diagnostics at ALMA Wavelengths

    Science.gov (United States)

    Rodger, Andrew; Labrosse, Nicolas

    2017-09-01

    Our aim is to test potential solar prominence plasma diagnostics as obtained with the new solar capability of the Atacama Large Millimeter/submillimeter Array (ALMA). We investigate the thermal and plasma diagnostic potential of ALMA for solar prominences through the computation of brightness temperatures at ALMA wavelengths. The brightness temperature, for a chosen line of sight, is calculated using the densities of electrons, hydrogen, and helium obtained from a radiative transfer code under non-local thermodynamic equilibrium (non-LTE) conditions, as well as the input internal parameters of the prominence model in consideration. Two distinct sets of prominence models were used: isothermal-isobaric fine-structure threads, and large-scale structures with radially increasing temperature distributions representing the prominence-to-corona transition region. We compute brightness temperatures over the range of wavelengths in which ALMA is capable of observing (0.32 - 9.6 mm), however, we particularly focus on the bands available to solar observers in ALMA cycles 4 and 5, namely 2.6 - 3.6 mm (Band 3) and 1.1 - 1.4 mm (Band 6). We show how the computed brightness temperatures and optical thicknesses in our models vary with the plasma parameters (temperature and pressure) and the wavelength of observation. We then study how ALMA observables such as the ratio of brightness temperatures at two frequencies can be used to estimate the optical thickness and the emission measure for isothermal and non-isothermal prominences. From this study we conclude that for both sets of models, ALMA presents a strong thermal diagnostic capability, provided that the interpretation of observations is supported by the use of non-LTE simulation results.

  9. Prominent crista terminalis mimicking a right atrial mass: case report

    Directory of Open Access Journals (Sweden)

    Lange Peter

    2010-10-01

    Full Text Available Abstract The crista terminalis is a normal anatomical structure within the right atrium that is not normally visualised in the standard views obtained while performing a transthoracic echocardiogram. In this case report, transthoracic echocardiography suggested the presence of a right atrial mass in a patient with end stage renal disease. However, subsequent transesophageal echocardiography revealed that the right atrial mass was actually a thick muscular bridge in the right atrium consistent with a prominent crista terminalis. An understanding of the anatomy and the echocardiographic appearance of a prominent crista terminalis will minimize the misdiagnosis of this structure avoiding unnecessary expensive additional tests.

  10. Prosthodontic management of a patient with ectodermal dysplasia.

    Science.gov (United States)

    Nandini, Yamini

    2013-12-01

    Ectodermal dysplasia is a rare congenital disease that affects the ectodermal structures. It is characterized by hypotrichosis, hypohidrosis and hypodontia. A 14-year-old boy with ectodermal dysplasia presenting with oligodontia and marked resorption of the maxillary and mandibular alveolar ridges is reported. Prosthetic rehabilitation in the form of a maxillary and mandibular partial denture was made with metal crowns on existing lower teeth to achieve appropriate vertical dimension. Significant improvement in speech, masticatory function and facial esthetics was achieved. Removable prosthodontics can provide an acceptable solution to esthetic, functional and psychological rehabilitation in patients with ectodermal dysplasia.

  11. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome

    Directory of Open Access Journals (Sweden)

    Reema Sharma Dhar

    2014-01-01

    Full Text Available Ectrodactyly-ectodermal dysplasia-cleft (EEC syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.

  12. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.

    Science.gov (United States)

    Dhar, Reema Sharma; Bora, Amitava

    2014-01-01

    Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.

  13. Polypoidal Intestinal Metaplasia and Dysplasia of the External Urethral Meatus

    Directory of Open Access Journals (Sweden)

    Mary Mathew

    2012-01-01

    Full Text Available Urethral mucosa with intestinal metaplasia and dysplasia is a rare occurrence. To date only a single case has been reported in a male with long-standing urethral stricture. We present a 33-year-old female with polypoid intestinal metaplasia and dysplasia of the external urethral meatus in the absence of an inciting factor. Intestinal metaplasia of the urethral mucosa may undergo dysplasia, emphasizing the necessity of a high degree of clinical suspicion and vigilant pathological examination of these lesions.

  14. Focal cemento-osseous dysplasia masquerading as a residual cyst.

    Science.gov (United States)

    Bhandari, Rajat; Sandhu, Simarpreet V; Bansal, Himanta; Behl, Rashi; Bhullar, Ramanpreet Kaur

    2012-04-01

    Focal cemento-osseous dysplasia (FCOD) is a benign fibroosseous condition that can be seen in dentulous and edentulous patients. It is an asymptomatic lesion and needs no treatment; however, follow-up is essential due to the possibility that it can progress to a condition called florid cemento-osseous dysplasia. We report a case of FCOD of mandible in a 25-year-old female. Clinically, the lesion resembled periapical pathosis of odontogenic origin. An attempt has been made to discuss the clinical and histopathologic features along with differential diagnosis of cemento-osseous dysplasia.

  15. Focal cemento-osseous dysplasia masquerading as a residual cyst

    Directory of Open Access Journals (Sweden)

    Rajat Bhandari

    2012-01-01

    Full Text Available Focal cemento-osseous dysplasia (FCOD is a benign fibroosseous condition that can be seen in dentulous and edentulous patients. It is an asymptomatic lesion and needs no treatment; however, follow-up is essential due to the possibility that it can progress to a condition called florid cemento-osseous dysplasia. We report a case of FCOD of mandible in a 25-year-old female. Clinically, the lesion resembled periapical pathosis of odontogenic origin. An attempt has been made to discuss the clinical and histopathologic features along with differential diagnosis of cemento-osseous dysplasia.

  16. [Florid cemento-osseous dysplasia of the jaws].

    Science.gov (United States)

    Benazzou, S; Boulaadas, M; El Ayoubi, A; Nazih, N; Essakalli, L; Kzadri, M

    2011-06-01

    Florid cemento-osseous dysplasia is a benign and rare tumor of the jaws. It is more commonly seen in middle-aged black women. Most cases are asymptomatic and are found during routine radiographic examination. We report two complicated cases of florid cemento-osseous dysplasia, one with facial deformity and the other with chronic osteitis. The diagnosis of florid cemento-osseous dysplasia is based on clinical and radiological features. The lesions are commonly bilateral and symmetrical. Copyright © 2011. Published by Elsevier Masson SAS.

  17. Fibrous Dysplasia versus Juvenile Ossifying Fibroma: A Dilemma

    Directory of Open Access Journals (Sweden)

    Sreelakshmi N. Nair

    2016-01-01

    Full Text Available Fibrous dysplasia (FD is a condition characterized by excessive proliferation of bone forming mesenchymal cells which can affect one bone (monostotic type or multiple bones (polyostotic type. It is predominantly noticed in adolescents and young adults. Fibrous dysplasia affecting the jaws is an uncommon condition. The most commonly affected facial bone is the maxilla, with facial asymmetry being the chief complaint. The lesion in many instances is confused with ossifying fibroma (OF. Diagnosis of these two lesions has to be done based on clinical, radiographic, and microscopic findings. Here, we present a case of fibrous dysplasia of maxilla in a nine-year-old boy mimicking juvenile ossifying fibroma.

  18. [Protein-energy malnutrition in patients with connective tissue dysplasia].

    Science.gov (United States)

    Lialiukova, E A

    2013-01-01

    In the conditions of the specialized Center of a dysplasia of a connecting tissue the assessment of an protein--energy malnutrition at 121 patients with signs of a dysplasia of a connecting tissue is carried out. High frequency of an oligotrophy at patients with a dysplasia of a connecting tissue is registered. The I degree of a gipotorofiya is taped at 26.21% of the patients, II degree--at 18.44%, the III degree--at 3.88% of patients.

  19. A new type of spondylo-metaphyseal dysplasia - Algerian type

    International Nuclear Information System (INIS)

    Kozlowski, K.; Bacha, L.; Massen, R.; Ayati, M.; Sator, S.; Brahimi, L.

    1988-01-01

    A new, dominantly inherited, severe form of spondylometaphyseal dysplasia in five members of an Algerian family is reported. Another child, not investigated, was also probably affected. The disease is characterised by a unique clinical and radiological set of features: dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. In view of the geographical localisation of the disorder and the anatomical distribution we propose the name Algerian type of spondylo-metaphyseal dysplasia. (orig.)

  20. Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Oh, Jung Seok; Ahn Kook Jin; Kim, Jee Young; Lee, Sun Jin; Park, Jeong Mi [Catholic University Yeouido St. Mary' s Hospital, College of Medicine, Seoul (Korea, Republic of)

    2010-06-15

    Recent advances in MRI have revealed congenital brain malformations and subtle developmental abnormalities of the cerebral and cerebellar cortical architecture. Typical cerebellar cortical dysplasia as a newly categorized cerebellar malformation, has been seen in patients with Fukuyama congenital muscular dystrophy. Cerebellar cortical dysplasia occurs at the embryonic stage and is often observed in healthy newborns. It is also incidentally and initially detected in adults without symptoms. To the best of our knowledge, cerebellar dysplasia without any related disorders is very rare. We describe the MRI findings in one patient with disorganized foliation of both cerebellar hemispheres without a related disorder or syndrome

  1. Radiological features of bilateral hereditary micro-epiphyseal dysplasia - a distinct entity in the skeletal dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Mostert, A.K. [Isala Clinics, Location Weezenlanden, Dept. of Orthopaedic Surgery, Zwolle (Netherlands); Dijkstra, P.F. [Jan van Breemen Inst., Dept. of Radiology, Amsterdam (Netherlands); Horn, J.R. van [Univ. Hospital Groningen, Dept. of Orthopaedic Surgery, Groningen (Netherlands); Jansen, B.R.H. [Reinier de Graaf Hospital, Dept. of Orthopaedic Surgery, Delft (Netherlands); Heutink, P. [Erasmus MCRotterdam, Dept. of Clinical Genetics, Rotterdam (Netherlands); Lindhout, D. [Univ. Medical Centre Utrecht, Dept. of Medical Genetics, Utrecht (Netherlands)

    2002-07-01

    Aim: To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959, is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED). Material and Methods: We used the data of the revised pedigree with 84 family members, performed a medical history, physical examination and made a radiological evaluation for defining a clinical and radiological phenotype of BHMED family members. We used blood samples for genetic analysis. Results: Although there is a clear clinical picture of the dysplasia, the radiological signs are more reliable for making the diagnosis. Especially the typical deformity of the hip and knee joint are diagnostic for BHMED. By linkage analysis we excluded linkage with the three known MED-loci (EDM1, EDM2 and EDM3). Conclusion: BHMED is indeed an entity that is distinct from common multiple epiphyseal dysplasia (MED), clinically, as well as radiologically and genetically. (orig.) [German] Ziel: Es sollte dargelegt werden, dass sich eine vererbliche, laterale Mikro-Epiphysendysplasie (BHMED), Erstbeschreibung durch Elsbach 1959, klinisch, radiologisch und genetisch von einer mutiplen Epiphysendysplasie (MED) unterscheidet. Material und Methode: Anhand der Daten eines ueberarbeiteten Stammbaumes mit 84 Familienmitgliedern wurde der medizinische Werdegang rekonstruiert. Es erfolgte eine physische Untersuchung der Familienmitglieder. Schliesslich wurde eine radiologische Auswertung durchgefuehrt, um einen klinischen und radiologischen Phaenotyp der von BHMED betroffenen Familienmitglieder zu definieren. Fuer eine genetische Analyse wurden Blutproben entnommen. Ergebnisse: Obwohl es ein deutliches klinisches Bild einer Dysplasie gibt, sind die radiologischen Kennzeichen fuer die Diagnose zuverlaessiger. Insbesondere die typische Deformation der Huefte und des Kniegelenks ist diagnostisch fuer BHMED. Durch Linkage-Analyse konnte eine Verbindung zu den drei bekannten

  2. PATTERNS OF FLOWS IN AN INTERMEDIATE PROMINENCE OBSERVED BY HINODE

    International Nuclear Information System (INIS)

    Ahn, Kwangsu; Chae, Jongchul; Cao Wenda; Goode, Philip R.

    2010-01-01

    The investigation of plasma flows in filaments/prominences gives us clues to understanding their magnetic structures. We studied the patterns of flows in an intermediate prominence observed by Hinode/SOT. By examining a time series of Hα images and Ca II H images, we have found horizontal flows in the spine and vertical flows in the barb. Both of these flows have a characteristic speed of 10-20 km s -1 . The horizontal flows displayed counterstreaming. Our detailed investigation revealed that most of the moving fragments in fact reversed direction at the end point of the spine near a footpoint close to the associated active region. These returning flows may be one possible explanation of the well-known counterstreaming flows in prominences. In contrast, we have found vertical flows-downward and upward-in the barb. Most of the horizontal flows in the spine seem to switch into vertical flows when they approach the barb, and vice versa. We propose that the net force resulting from a small deviation from magnetohydrostatic equilibrium, where magnetic fields are predominantly horizontal, may drive these patterns of flow. In the prominence studied here, the supposed magnetohydrostatic configuration is characterized by magnetic field lines sagging with angles of 13 0 and 39 0 in the spine and the barb, respectively.

  3. The Most Prominent Roles of an ESP Teacher

    Science.gov (United States)

    Ghafournia, Narjes; Sabet, Shokoofeh Ahmadian

    2014-01-01

    One prominent feature of many ESP (English for Specific Purposes) courses, which make them rather different from EGP (English for General Purposes) courses, is the presence of adult learners, who are primary workers and secondary learners. As ESP is a highly learner-cantered approach, paying close attention to the multidimensional needs of…

  4. On Lyman-line asymmetries in quiescent prominences

    Czech Academy of Sciences Publication Activity Database

    Gunár, Stanislav; Heinzel, Petr; Anzer, U.; Schmieder, B.

    2008-01-01

    Roč. 490, č. 1 (2008), s. 307-313 ISSN 0004-6361 Grant - others:EU(XE) ESA-PECS project No. 98030 Institutional research plan: CEZ:AV0Z10030501 Keywords : Sun prominences * radiative transfer * line profiles Subject RIV: BN - Astronomy, Celestial Mechanics, Astrophysics Impact factor: 4.153, year: 2008

  5. Unintended exposure in radiotherapy: Identification of prominent causes

    International Nuclear Information System (INIS)

    Boadu, Mary; Rehani, Madan Mohan

    2009-01-01

    Background and purpose: Unintended exposures in radiotherapy are likely to occur when certain conditions that favour such exposures exist. Based on the frequency of occurrence of various causes of 100 events of unintended exposures in radiotherapy as derived from the analysis of published reports, a checklist for assessing the vulnerability of radiotherapy facilities for potential accidents has been prepared. The list presents items to be considered for safety critical assessments of a radiotherapy department for the improvement of patient safety and the entire radiotherapy processes. Materials and methods: The resources used for this paper consist of 100 unintended radiotherapy exposures and were derived from existing published reports. The analysis was performed by forming two templates: one consisting of 10 initiating events and another of 35 contributing factors. Results: Four most prominent initiating events were identified and together accounted for about 70% of all the unintended exposure events. Ten most prominent contributing factors were also identified and together accounted for about 70% of all the radiotherapy unintended exposure events covered under this study. Conclusion: With this knowledge of high frequency of occurrences, the identified four prominent initiating events and the 10 most prominent contributing factors must be checked and dealt with as a matter of priority when assessing the safety of a radiotherapy facility. A simple checklist for checking the quality assurance programmes of a radiotherapy department for every aspect of the design and delivery of radiation have been provided.

  6. Further Validation of the Coach Identity Prominence Scale

    Science.gov (United States)

    Pope, J. Paige; Hall, Craig R.

    2014-01-01

    This study was designed to examine select psychometric properties of the Coach Identity Prominence Scale (CIPS), including the reliability, factorial validity, convergent validity, discriminant validity, and predictive validity. Coaches (N = 338) who averaged 37 (SD = 12.27) years of age, had a mean of 13 (SD = 9.90) years of coaching experience,…

  7. Whole genome microarray analysis of chicken embryo facial prominences

    Czech Academy of Sciences Publication Activity Database

    Buchtová, Marcela; Kuo, W. P.; Nimmagadda, S.; Benson, S. L.; Geetha-Loganathan, P.; Logan, C.; Au-Yeung, T.; Chiang, E.; Fu, K.; Richman, J. M.

    2010-01-01

    Roč. 239, - (2010), s. 574-591 ISSN 1058-8388 Institutional research plan: CEZ:AV0Z50450515 Keywords : pharyngeal arch * mandibular arch * maxillary prominence Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.864, year: 2010

  8. Prominence modelling: from observed emission measures to temperature profiles

    Czech Academy of Sciences Publication Activity Database

    Anzer, U.; Heinzel, Petr

    2008-01-01

    Roč. 480, č. 2 (2008), s. 537-542 ISSN 0004-6361 Grant - others:EU(XE) ESA-PECS Project No. 98030 Institutional research plan: CEZ:AV0Z10030501 Keywords : Sun * prominences * transition region Subject RIV: BN - Astronomy, Celestial Mechanics, Astrophysics Impact factor: 4.153, year: 2008

  9. Holdaway's analysis of the nose prominence of an adult Nigerian ...

    African Journals Online (AJOL)

    The nose prominence was assessed using Holdaway's analysis. Twenty radiographs randomly selected, were retraced to assess for errors. Data analysis included descriptive statistics, Student's t‑tests and analysis of variance using the Statistical Package for Social Sciences. Results: The mean value recorded for the nose ...

  10. Eruptive prominences and long-delay geomagnetic storms

    International Nuclear Information System (INIS)

    Wright, C.S.

    1983-01-01

    The relationship between disappearing solar fragments and geomagnetic disturbances was investigated. It is shown that long-delay storms are associated with filaments well removed from the disc centre, and particularly in the case of large filaments and prominences, the proportion of events that produce long-delay storms increases with angular distance from the centre

  11. Cylindrical prominences and the magnetic influence of the photospheric boundary

    International Nuclear Information System (INIS)

    Lerche, I.; Chicago Univ., IL; Low, B.C.

    1980-01-01

    We construct exact, non-linear, solutions for an horizontal, cylindrical, current-carrying, prominence supported against solar gravity by the action of a Lorentz force. The solutions incorporate the photosphere boundary condition, proposed by van Tend and Kuperus (1978), and analyzed by them for line filaments. Our solutions have finite radius for the prominence material and, as well as satisfying the equations of magnetostatic equilibrium, they allow for the continuity of gas pressure, and of the normal and tangential components of magnetic field across the circular prominence boundary. We show that an infinity of solutions is possible and we illustrate the basic behavior by investigation of a special case. We also give a prescription for constructing equilibrium fields for any horizontal prominence with arbitrary cross-section and with an arbitrary external magnetic field. The prescription is ideally suited for numerical codes and we suggest that both the equilibrium of such shapes can easily be accomplished numerically together with their evolutionary history. (orig.)

  12. Lines of MgI Detected in Solar Prominences

    Czech Academy of Sciences Publication Activity Database

    Heinzel, Petr; Kupryakov, Yu. A.; Schwartz, P.

    2016-01-01

    Roč. 40, č. 1 (2016), s. 87-91 ISSN 1845-8319. [Hvar Astrophysical Colloquium /14./. Hvar, 26.09.2016-30.09.2016] Institutional support: RVO:67985815 Keywords : prominences * limb-flare * MgI emession Subject RIV: BN - Astronomy, Celestial Mechanics, Astrophysics

  13. Topics and topic prominence in two sign languages

    NARCIS (Netherlands)

    Kimmelman, V.

    2015-01-01

    In this paper we describe topic marking in Russian Sign Language (RSL) and Sign Language of the Netherlands (NGT) and discuss whether these languages should be considered topic prominent. The formal markers of topics in RSL are sentence-initial position, a prosodic break following the topic, and

  14. Multi-Wavelength Eclipse Observations of a Quiescent Prominence

    Czech Academy of Sciences Publication Activity Database

    Jejčič, S.; Heinzel, Petr; Zapiór, M.; Druckmüller, M.; Gunár, Stanislav; Kotrč, Pavel

    2014-01-01

    Roč. 289, č. 7 (2014), s. 2487-2501 ISSN 0038-0938 R&D Projects: GA ČR GAP209/12/0906 Institutional support: RVO:67985815 Keywords : eclipse observations * prominences * quiescent Subject RIV: BN - Astronomy, Celestial Mechanics, Astrophysics Impact factor: 4.039, year: 2014

  15. Electron densities in quiescent prominences derived from eclipse observations

    Czech Academy of Sciences Publication Activity Database

    Jejčič, S.; Heinzel, Petr

    2009-01-01

    Roč. 254, č. 1 (2009), s. 89-100 ISSN 0038-0938 Grant - others:EU(XE) ESA-PECS project No. 98030 Institutional research plan: CEZ:AV0Z10030501 Keywords : prominences quiescent * eclipse observations * visible spectrum Subject RIV: BN - Astronomy, Celestial Mechanics, Astrophysics Impact factor: 3.628, year: 2009

  16. MRI findings of dysplasia epiphysealis hemimelica

    Energy Technology Data Exchange (ETDEWEB)

    Iwasawa, T. [Dept. of Radiology, School of Medicine, Yokohama City Univ., Kanagawa (Japan); Aida, N. [Dept. of Radiology, School of Medicine, Yokohama City Univ., Kanagawa (Japan)]|[Kanagawa Children`s Medical Center, Yokohama (Japan); Kobayashi, N. [Dept. of Radiology, School of Medicine, Yokohama City Univ., Kanagawa (Japan)]|[Kanagawa Children`s Medical Center, Yokohama (Japan); Nishimura, G. [Dept. of Radiology, School of Medicine, Yokohama City Univ., Kanagawa (Japan)]|[Dept. of Radiology, School of Medicine, Dokkyou Univ., Tochigi (Japan)

    1996-01-01

    We report a boy with dysplasia epiphysealis hemimelica of the knee, particularly emphasizing MRI findings. When he was 14 months of age, plain radiography exhibiting juxta-articular soft tissue mass with small, punctate, calcified foci did not warrant the definitive diagnosis, while MRI clearly demonstrated osteocartilaginous overgrowth of the femoral epiphysis. The epiphyseal mass mostly showed the same signal intensity as normal cartilage but contained low signal spots corresponding to calcified foci. The cartilaginous cap was depicted as a mottled area of high intensity on a T2-weighted image. When the patient was 4 years of age, this ossified mass was resected surgically and pathologically identified as osteochondroma incorporated into the epiphysis. (orig.)

  17. Florid Cementoosseous Dysplasia: A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Mehmet Fatih Şentürk

    2013-01-01

    Full Text Available Florid cementoosseous dysplasia (FCOD is a rare, benign, fibroosseous, and multifocal dysplastic lesion of the jaw that consists of cellular fibrous connective tissue with bone and cementum-like tissue. FCOD is most commonly found in middle-aged black women, is generally asymptomatic, and is usually detected during radiological examination. FCOD associated with multiple impacted teeth and bone expansion is a very rare phenomenon, and there are only a few familial cases reported in the literature. In this report, a 35-year-old male Turkish patient is presented who was diagnosed with nonfamilial FCOD from clinical, radiological, and histopathological findings. To our knowledge this is the first case of the nonfamilial FCOD with this many impacted teeth and severely expanded bones.

  18. Ectodermal dysplasia-skin fragility syndrome

    Directory of Open Access Journals (Sweden)

    Vijay S Adhe

    2011-01-01

    Full Text Available Ectodermal dysplasia-skin fragility (EDSF syndrome is a rare and first described inherited disorder of desmosomes. It occurs due to loss-of-function mutations in PKP1 gene resulting in poorly formed desmosomes and loss of desmosomal and epidermal integrity. We report a case of a 2-year-old Indian male child who presented with palmoplantar hyperkeratosis with fissuring, short, sparse, and easily pluckable scalp hair, nail dystrophy, and multiple erosions over the skin. Skin biopsy showed epidermal hyperplasia with widening of intercellular spaces. His developmental milestones were delayed but intelligence was normal. Echocardiography, X-ray chest, and electrocardiogram were normal. Very few cases of this syndrome have been reported in the literature. We consider this as the first case report from India.

  19. Four cases of right ventricular dysplasia

    International Nuclear Information System (INIS)

    Takamura, Ichiro; Ando, Joji; Miyamoto, Atsushi; Kobayashi, Takeshi; Sakamoto, Sanya; Yasuda, Hisakazu

    1985-01-01

    Finding of 81 Kr right ventriculography and 201 Tl myocardial perfusion imaging in 4 patients with right ventricular dysplasia (RVD) were compared with those in 28 patients with dilated cardiomyopathy. Remarkably dilated right ventricle was detected on 201 Tl myocardial perfusion imaging in the RVD group. In a patient with RVD who died suddenly, perfusion defect of the left ventricular myocardium, a decreased right ventricular ejection fraction, and an increased right ventricular end diastolic volume were seen. Perfusion defect of the left ventricular myocardium was seen in 10 of the 28 patients with dilated cardiomyopathy, 4 of whom died suddenly. In these 4 patients, a decreased left ventricular ejection fraction and an increased right ventricular end diastolic volume were seen. These findings obtained by the radionuclide techniques suggested that there are differences in cardiac dysfunction of the both ventricles between the groups with RVD and dilated cardiomyopathy. (Namekawa, K.)

  20. Focal cemento-osseous dysplasia of mandible.

    Science.gov (United States)

    Cankaya, Abdülkadir Burak; Erdem, Mehmet Ali; Olgac, Vakur; Firat, Deniz Refia

    2012-09-03

    Fibro-osseous lesions are disturbances in bone metabolism in which normal bone is replaced by a connective tissue matrix that then gradually develops into cemento-osseous tissue. Typically, the lesion is asymptomatic and is detected on routine radiographic examination. Radiologically, this lesion has three stages of maturation: pure radiolucent, radiopaque/mixed radiolucent, and radiopaque appearance. During these stages the lesion can be misdiagnosed. In this case report a 69-year- old patient with a a complaint of painless swelling of the left mandibular molar and premolar area is presented along with a review of the differential diagnoses considered in order to reach a final diagnosis of focal cemento-osseous dysplasia.

  1. Nonfamilial cleidocranial dysplasia (dysostosis): a case report

    International Nuclear Information System (INIS)

    Salem, G

    1990-01-01

    Cleidocranial dysplasia, previously known as cleidocranial dysostosis, is a rare hereditary disease of unknown etiology characterized by abnormalities in the skull, jaws, shoulder girdle, as well as abnormalities of the dentition. The disease usually follows an autosomal dominant mode of transmission. This is a report on a case in a 25-year-old Saudi female from Gizan, Saudi Arabia, which seemes to be the first case reported in the Kingdom. An outstanding feature of this case is that it did not follow a familial pattern of inheritance since the patient is the only member of the family suffering from such disorder. The abnor malities present in the dentition are described together with the associated skeletal malformations. The clin ical and radiographic findings, as well as the hereditary pattern of the disease as described in the literature, are discussed. The dental management of these cases is reviewed. (author)

  2. Guidelines for genetic skeletal dysplasias for pediatricians

    Directory of Open Access Journals (Sweden)

    Sung Yoon Cho

    2015-12-01

    Full Text Available Skeletal dysplasia (SD is a kind of heterogeneous genetic disorder characterized by abnormal growth, development, differentiation, and maintenance of the bone and cartilage. The patients with SD most likely to be seen by a pediatrician or orthopedic surgeon are those who present with short stature in childhood. Because each category has so many diseases, classification is important to understand SD better. In order to diagnose a SD accurately, clinical and radiographic findings should be evaluated in detail. In addition, genetic diagnosis of SD is important because there are so various SDs with complex phenotypes. To reach an exact diagnosis of SDs, cooperative approach by a clinician, a radiologist and a geneticist is important. This review aims to provide an outline of the diagnostic approach for children with disproportional short stature.

  3. Hypohidrotic ectodermal dysplasia: a multidisciplinary approach.

    Science.gov (United States)

    Bildik, Tezan; Ozbaran, Burcu; Kose, Sezen; Koturoglu, Guldane; Gokce, Bulent; Gunaydin, Asli; Altintas, Inci

    2012-01-01

    Hypohidrotic ectodermal dysplasia (HED; Christ-Siemens-Touraine syndrome) is a genetic disorder characterized by sparse hair, oligodontia with peg-shaped teeth, reduced sweating, and defects in a number of other ectodermal organs. A partial or complete absence of eccrine glands can lead to recurrent severe overheating that may cause seizures and neurological deficits. This clinical report presents a 14-year-old male patient with hypohidrotic ectodermal dysplasia, including the clinical and radiographic findings, and multidisciplinary treatment. The Schedule for Affective Disorders and Schizophrenia for School Aged Children-Present and Lifetime Version (K-SADS-PL) was administered to patient along with mother to assess for any psychiatric disorders. The screening and rating scales completed by mother and two teachers to evaluate the severity of attention deficit hyperactivity disorder (ADHD) symptoms, and other behavioral problems. Patient's academic performance, adaptive functioning, and problem behavior was evaluated using. The Teacher Report Form. Mental capacity was assessed with the Wechsler Intelligence Scale for Children (WISC-R). Illness Perception Questionnaire Revised was used to systematically assess illness representation attributes and emotional representations of illness. On the psychiatric diagnosis assessment using K-SADS-PL sub-threshold attention deficits and anxiety symptoms were determined. In this case we established a multidisciplinary approach in his treatment with pediatric, dermatological, and dental examinations, beside his psychiatric evaluation. The prosthetic rehabilitation included restoring upper teeth with copings and fabrication of upper and lower complete dentures. Metal framework was not incorporated in the partial denture design allowing modifications as the oral and maxillofacial development continued. Removable complete or partial dentures without metal framework is a treatment of choice until the completion of facial growth at

  4. Anomalies of tooth formation in hypohidrotic ectodermal dysplasia

    DEFF Research Database (Denmark)

    Lexner, Michala O; Bardow, Allan; Hertz, Jens Michael

    2007-01-01

    OBJECTIVE: The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study is the fi......OBJECTIVE: The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study...... affected males had multiple missing permanent teeth and tooth malformations. The heterozygous females had a significantly higher frequency of agenesis of permanent teeth compared to normative data. The heterozygous females had an increased prevalence of tooth malformations and reduced tooth size...

  5. Müllerian agenesis with hypohidrotic ectodermal dysplasia syndrome.

    Science.gov (United States)

    Whaley, Katie; Winter, Jordan; Eyster, Kathleen M; Hansen, Keith A

    2012-04-01

    To describe the association of müllerian agenesis with hypohidrotic ectodermal dysplasia. Case report. University medical center. A 17-year-old woman with hypohidrotic ectodermal dysplasia referred for evaluation of primary amenorrhea. History, physical examination, and ultrasound. Physical findings of these two syndromes. Physical examination and ultrasound demonstrated müllerian agenesis with findings of hypohidrotic ectodermal dysplasia. This is the first description of the association of müllerian agenesis with ectodermal dysplasia. This rare case might provide further insight into the development of the uterus and the ectoderm as well as its derivatives. Copyright © 2012 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  6. Anhidrotic Ectodermal Dysplasia with Palmo-plantar Keratoderma

    Directory of Open Access Journals (Sweden)

    Kamlesh Kumar

    1982-01-01

    Full Text Available A patient with anhidrotic ectodermal dysplasia and palmo-plantar keratoderma is presented. Palmo-planta keratoderma is an unusual association with this disease. Atopic dermatitis was another associated condition in this patient.

  7. Ehlers-Danlos syndrome with monostotic fibrous dysplasia

    Directory of Open Access Journals (Sweden)

    Rao A

    1979-01-01

    Full Text Available An unusual case of Ehlers-Danlos syndrome with monostotic fibrous dysplasia of the humorus is presented. The other orthopae-dic manifestations, its complications and associated features are re-viewed and summarised.

  8. Cemento-osseous dysplasia in Jamaica: review of six cases.

    Science.gov (United States)

    Ogunsalu, C; Miles, D

    2005-09-01

    Six cases of cemento-osseous dysplasia (COD) of the jaw bone in Jamaicans are reviewed. Five were documented over a 15-year period (1980-1995). These include a case of florid cemento-osseous dysplasia (previously called gigantiform cementoma). Three of the initial cases were histologically diagnosed as gigantiform cementoma. There was no indication in the patient's case file whether these were familial or non-familial. The other two cases were diagnosed histologically as periapical cemento-osseous dysplasia and cementoblastoma respectively. Based on the current understanding of the nature of florid-cemento-osseous dysplasia (FLCOD), a new case was diagnosed as such solely on radiological findings. This single case of FLCOD is reported and discussed against the background of other cemento-osseous lesions. Special emphasis is placed on the radiology of COD in this paper. The confirmative role of radiology without the need for histophathology and treatment for asymptomatic FLCOD is emphasized.

  9. Omphalocele and alveolar capillary dysplasia: a new association.

    NARCIS (Netherlands)

    Gerrits, L.C.; Mol, A.C. de; Bulten, J.; Staak, F.H.J.M. van der; Heijst, A.F.J. van

    2010-01-01

    OBJECTIVE: First report of an infant with coexistent omphalocele and alveolar capillary dysplasia. DESIGN: Descriptive case report. SETTING: Neonatal intensive care unit of a tertiary care children's hospital. PATIENT: We describe a term infant with omphalocele and respiratory insufficiency

  10. Electrocorticographic discharge patterns in glioneuronal tumors and focal cortical dysplasia

    NARCIS (Netherlands)

    Ferrier, Cyrille H.; Aronica, Eleanora; Leijten, Frans S. S.; Spliet, Wim G. M.; van Huffelen, Alexander C.; van Rijen, Peter C.; Binnie, Colin D.

    2006-01-01

    PURPOSE: To determine whether highly epileptiform electrocorticographical discharge patterns occur in patients with glioneuronal tumors (GNTs) and focal cortical dysplasia (FCD) and whether specific histopathological features are related to such patterns. METHODS: The series consists of operated

  11. Urethral dysontogenic metaplasia in cat with bilateral renal dysplasia

    Directory of Open Access Journals (Sweden)

    Carolina da Fonseca Sapin

    2017-10-01

    Full Text Available This paper to describe a case of dysontogenic urethral metaplasia in a one month old mongrel feline who also had bilateral renal dysplasia. Dysontogenic metaplasia in cats are scarce and this change may be associated with renal dysplasia and/or lower urinary tract. The animal had history of abdominal enlargement since birth and dysuria, eliminating urine only dropwise. Due to the poor prognosis we opted for euthanasia. At necropsy was observed enlarged and distended bladder, reduced kidneys and dilated and tortuous ureters. The urethra was thickened, hard to cut, and histologically, was replacing the connective tissue, cartilage and endochondral ossification areas, which features dysontogenic metaplasia. Both kidneys presented primitive appearance featuring dysplasia. Dysontogenic metaplasia in urinary tract feline with renal dysplasia, has not been described.

  12. p63 in skin development and ectodermal dysplasias

    Science.gov (United States)

    Koster, Maranke I.

    2010-01-01

    The transcription factor p63 is critically important for skin development and maintenance. Processes that require p63 include epidermal lineage commitment, epidermal differentiation, cell adhesion, and basement membrane formation. Not surprisingly, alterations in the p63 pathway underlie a subset of ectodermal dysplasias, developmental syndromes in which the skin and skin appendages do not develop normally. This review summarizes the current understanding of the role of p63 in normal development and ectodermal dysplasias. PMID:20445549

  13. Hereditary hypohidrotic ectodermal dysplasia: report of a rare case.

    Science.gov (United States)

    Paramkusam, Geetha; Meduri, Venkateswarlu; Nadendla, Lakshmi Kavitha; Shetty, Namratha

    2013-09-01

    Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers. It is characterised by congenital dysplasia of one or more ectodermal structures and it is manifested by hypohidrosis, hypotrichosis and hypodontia. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Here, we are presenting a rare case of HHED in a 19 year female with classic features of this condition.

  14. Brachial artery aneurysm and thrombosis secondary to fibromuscular dysplasia

    Directory of Open Access Journals (Sweden)

    Julia Louise Jones, MBBS

    2016-09-01

    Full Text Available Fibromuscular dysplasia is a pathologic process causing stenosis and dilation of medium-caliber arteries of unknown etiology. It most commonly affects the renal and carotid arteries; however, it has been described in virtually all anatomic areas, including, rarely, the brachial artery. We describe a case of brachial artery aneurysm and thrombosis in a 29-year-old man secondary to fibromuscular dysplasia, treated surgically with excision, embolectomy, interposed vein graft, and anticoagulation.

  15. Adult-onset Rasmussen encephalitis associated with focal cortical dysplasia.

    Science.gov (United States)

    Hohenbichler, Katharina; Lelotte, Julie; Lhommel, Renaud; Tahry, Riëm El; Vrielynck, Pascal; Santos, Susana Ferrao

    2017-12-01

    Rasmussen encephalitis is a rare, devastating condition, typically presenting in childhood. Cases of adult-onset Rasmussen have also been described, but the clinical picture is less defined, rendering final diagnosis difficult. We present a case of adult-onset Rasmussen encephalitis with dual pathology, associated with focal cortical dysplasia and encephalitis. We interpreted the Rasmussen encephalitis to be caused by severe and continuous epileptic activity due to focal cortical dysplasia. The best therapeutic approach for such cases remains unclear.

  16. Chondrosarcoma occurring in a patient with polyostotic fibrous dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    De Smet, A.A.; Travers, H.; Neff, J.R.

    1981-12-01

    A 36-year-old white man with polyostotic fibrous dysplasia was found to have a high-grade chondrosarcoma arising from the left ilium. Although a left hemipelvectomy was performed, the patient subsequently developed sacral and pulmonary metastases and succumbed to his disease. This patient represents the first documented example of an unequivocally high-grade chondrosarcoma arising in an area of fibrous dysplasia without prior irradiation.

  17. Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome

    Directory of Open Access Journals (Sweden)

    Mohita Marwaha

    2012-01-01

    Full Text Available The ectodermal dysplasias (EDs are a large and complex group of diseases. More than 170 different clinical conditions have been recognized and defined as ectodermal dysplasias. Commonly involved ectodermal-derived structures are hair, teeth, nails, and sweat glands. In some conditions, it may be associated with mental retardation. We report a case of 10-year-old male child with ectrodactyly, syndactyly, ED, cleft lip/palate, hearing loss, and mental retardation.

  18. The association between gender and familial prevalence of hip dysplasia in Danish patients

    DEFF Research Database (Denmark)

    El Jashi, Rima; Gustafson, Maria B; Jakobsen, Mette B

    2017-01-01

    BACKGROUND: The development of hip dysplasia is associated with several risk factors. 1 of these risk factors is gender, since 80% of patients with symptomatic hip dysplasia are females. Another risk factor for hip dysplasia is familial predisposition of hip dysplasia. Several studies indicate...... that the risk of hip dysplasia is increased with familial prevalence of hip dysplasia. However, little is known about the association between the familial prevalence and gender and the development of hip dysplasia. PURPOSE: The aim of the study was to estimate the prevalence of hip dysplasia among relatives...... to Danish patients with hip dysplasia operated with periacetabular osteotomy (PAO), and the degree of relationship of affected family members. Furthermore, to assess the association between gender and family predisposition in the same group of patients. METHOD: The study is a cross-sectional study...

  19. Is There a Relationship between Ovarian Epithelial Dysplasia and Infertility?

    Directory of Open Access Journals (Sweden)

    Gautier Chene

    2012-01-01

    Full Text Available Aim. Ovarian epithelial dysplasia was initially described in material from prophylactic oophorectomies performed in patients at genetic risk of ovarian cancer. Similar histopathological abnormalities have been revealed after ovulation stimulation. Since infertility is also a risk factor for ovarian neoplasia, the aim of this study was to study the relationship between infertility and ovarian dysplasia. Methods. We blindly reviewed 127 histopathological slides of adnexectomies or ovarian cystectomies according to three groups—an exposed group to ovulation induction (n = 30, an infertile group without stimulation (n = 35, and a spontaneously fertile control group (n = 62—in order to design an eleven histopathological criteria scoring system. Results. The ovarian dysplasia score was significantly higher in exposed group whereas dysplasia score was low in infertile and control groups (resp., 8.21 in exposed group, 3.69 for infertile patients, and 3.62 for the controls. In the subgroup with refractory infertility there was a trend towards a more severe dysplasia score (8.53 in ovulation induction group and 5.1 in infertile group. Conclusion. These results raise questions as to the responsibility of drugs used to induce ovulation and/or infertility itself in the genesis of ovarian epithelial dysplasia.

  20. Assessment of hip dysplasia and osteoarthritis: Variability of different methods

    International Nuclear Information System (INIS)

    Troelsen, Anders; Elmengaard, Brian; Soeballe, Kjeld; Roemer, Lone; Kring, Soeren

    2010-01-01

    Background: Reliable assessment of hip dysplasia and osteoarthritis is crucial in young adults who may benefit from joint-preserving surgery. Purpose: To investigate the variability of different methods for diagnostic assessment of hip dysplasia and osteoarthritis. Material and Methods: By each of four observers, two assessments were done by vision and two by angle construction. For both methods, the intra- and interobserver variability of center-edge and acetabular index angle assessment were analyzed. The observers' ability to diagnose hip dysplasia and osteoarthritis were assessed. All measures were compared to those made on computed tomography scan. Results: Intra- and interobserver variability of angle assessment was less when angles were drawn compared with assessment by vision, and the observers' ability to diagnose hip dysplasia improved when angles were drawn. Assessment of osteoarthritis in general showed poor agreement with findings on computed tomography scan. Conclusion: We recommend that angles always should be drawn for assessment of hip dysplasia on pelvic radiographs. Given the inherent variability of diagnostic assessment of hip dysplasia, a computed tomography scan could be considered in patients with relevant hip symptoms and a center-edge angle between 20 deg and 30 deg. Osteoarthritis should be assessed by measuring the joint space width or by classifying the Toennis grade as either 0-1 or 2-3

  1. Assessment of hip dysplasia and osteoarthritis: Variability of different methods

    Energy Technology Data Exchange (ETDEWEB)

    Troelsen, Anders; Elmengaard, Brian; Soeballe, Kjeld (Orthopedic Research Unit, Univ. Hospital of Aarhus, Aarhus (Denmark)), e-mail: a_troelsen@hotmail.com; Roemer, Lone (Dept. of Radiology, Univ. Hospital of Aarhus, Aarhus (Denmark)); Kring, Soeren (Dept. of Orthopedic Surgery, Aabenraa Hospital, Aabenraa (Denmark))

    2010-03-15

    Background: Reliable assessment of hip dysplasia and osteoarthritis is crucial in young adults who may benefit from joint-preserving surgery. Purpose: To investigate the variability of different methods for diagnostic assessment of hip dysplasia and osteoarthritis. Material and Methods: By each of four observers, two assessments were done by vision and two by angle construction. For both methods, the intra- and interobserver variability of center-edge and acetabular index angle assessment were analyzed. The observers' ability to diagnose hip dysplasia and osteoarthritis were assessed. All measures were compared to those made on computed tomography scan. Results: Intra- and interobserver variability of angle assessment was less when angles were drawn compared with assessment by vision, and the observers' ability to diagnose hip dysplasia improved when angles were drawn. Assessment of osteoarthritis in general showed poor agreement with findings on computed tomography scan. Conclusion: We recommend that angles always should be drawn for assessment of hip dysplasia on pelvic radiographs. Given the inherent variability of diagnostic assessment of hip dysplasia, a computed tomography scan could be considered in patients with relevant hip symptoms and a center-edge angle between 20 deg and 30 deg. Osteoarthritis should be assessed by measuring the joint space width or by classifying the Toennis grade as either 0-1 or 2-3

  2. Papillary bile duct dysplasia in primary sclerosing cholangitis.

    Science.gov (United States)

    Ludwig, J; Wahlstrom, H E; Batts, K P; Wiesner, R H

    1992-06-01

    A 62-year-old man with a 20-year history of chronic ulcerative colitis and a 9-year history of primary sclerosing cholangitis (PSC) underwent orthotopic liver transplantation because of symptoms related to PSC and cholangiographic features compatible with a biliary neoplasm. Study of the excised liver revealed papillary mucosal lesions in the common hepatic duct and the right and left hepatic ducts as well as cholangiectases and other features typically associated with PSC. The papillary lesions consisted of abundant fibrovascular stroma covered by biliary epithelium with low-grade and high-grade dysplasia. Some periductal glands were also dysplastic. These features distinguished papillary dysplasia from classic biliary papillomatosis. Only one focus of microinvasion was found; there were no metastases. Among 60 cases of PSC in whom the entire liver could be studied after orthotopic liver transplantation, this was the only instance of unequivocal dysplasia. However, in one specimen, papillary hyperplasia was found. Detailed macroscopic and microscopic rereview of 23 livers from our patients with the longest history of PSC (range, 5-24 years) failed to reveal any additional cases with dysplasia. It is concluded that (a) papillary mucosal lesions in PSC may represent papillary dysplasia without invasion; (b) these lesions may evolve from papillary hyperplasia; (c) the process may be largely, if not entirely, in situ; and (d) the prevalence of dysplasia and carcinoma of bile ducts may be less than the 7%-9% reported in the literature for malignancies associated with PSC.

  3. Head turning as a prominent motor symptom in status epilepticus.

    Science.gov (United States)

    Bauer, Gerhard; Broessner, Gregor; Unterberger, Iris; Walser, Gerald; Pfausler, Bettina; Trinka, Eugen

    2008-06-01

    Head and eye turning is frequently observed during seizures. Versions with tonic and/or clonic symptoms can be differentiated from smooth head deviations. Head turning as a prominent symptom of status epilepticus has not previously been reported. We present eight case reports, (7 women/1 man, mean age 41 years, median 41.5, range 10 to 74), of status epilepticus (SE), with head turning as a prominent motor symptom. Six were accompanied by continuous frontal, occipital and temporal ictal epileptiform discharges. Furthermore, two patients had absence status with rhythmic and clonic head versions. While the localizing significance of head turnings in SE is low, in our cases, the direction was away from the discharging hemisphere in all cases of focal SE regardless of whether the turning was classified as version (three cases) or deviation (three cases). In this small series of SE, the classical observation of a patient looking away from the discharging hemisphere is still valid.

  4. Non-LTE hydrogen-line formation in moving prominences

    Science.gov (United States)

    Heinzel, P.; Rompolt, B.

    1986-01-01

    The behavior of hydrogen-line brightness variations, depending on the prominence-velocity changes were investigated. By solving the NON-Local thermodynamic equilibrium (LTE) problem for hydrogen researchers determine quantitatively the effect of Doppler brightening and/or Doppler dimming (DBE, DDE) in the lines of Lyman and Balmer series. It is demonstrated that in low-density prominence plasmas, DBE in H alpha and H beta lines can reach a factor of three for velocities around 160 km/sec, while the L alpha line exhibits typical DDE. L beta brightness variations follow from a combined DBE in the H alpha and DDE in L alpha and L beta itself, providing that all relevant multilevel interlocking processes are taken into account.

  5. STRUCTURE OF PROMINENCE LEGS: PLASMA AND MAGNETIC FIELD

    Energy Technology Data Exchange (ETDEWEB)

    Levens, P. J.; Labrosse, N. [SUPA School of Physics and Astronomy, University of Glasgow, Glasgow, G12 8QQ (United Kingdom); Schmieder, B. [Observatoire de Paris, Meudon, F-92195 (France); Ariste, A. López, E-mail: p.levens.1@research.gla.ac.uk [Institut de Recherche en Astrophysique et Planétologie, Toulouse (France)

    2016-02-10

    We investigate the properties of a “solar tornado” observed on 2014 July 15, and aim to link the behavior of the plasma to the internal magnetic field structure of the associated prominence. We made multi-wavelength observations with high spatial resolution and high cadence using SDO/AIA, the Interface Region Imaging Spectrograph (IRIS) spectrograph, and the Hinode/Solar Optical Telescope (SOT) instrument. Along with spectropolarimetry provided by the Télescope Héliographique pour l’Etude du Magnétisme et des Instabilités Solaires telescope we have coverage of both optically thick emission lines and magnetic field information. AIA reveals that the two legs of the prominence are strongly absorbing structures which look like they are rotating, or oscillating in the plane of the sky. The two prominence legs, which are both very bright in Ca ii (SOT), are not visible in the IRIS Mg ii slit-jaw images. This is explained by the large optical thickness of the structures in Mg ii, which leads to reversed profiles, and hence to lower integrated intensities at these locations than in the surroundings. Using lines formed at temperatures lower than 1 MK, we measure relatively low Doppler shifts on the order of ±10 km s{sup −1} in the tornado-like structure. Between the two legs we see loops in Mg ii, with material flowing from one leg to the other, as well as counterstreaming. It is difficult to interpret our data as showing two rotating, vertical structures that are unrelated to the loops. This kind of “tornado” scenario does not fit with our observations. The magnetic field in the two legs of the prominence is found to be preferentially horizontal.

  6. Beat gestures and prosodic prominence: impact on learning

    OpenAIRE

    Kushch, Olga

    2018-01-01

    Previous research has shown that gestures are beneficial for language learning. This doctoral thesis centers on the effects of beat gestures– i.e., hand and arm gestures that are typically associated with prosodically prominent positions in speech - on such processes. Little is known about how the two central properties of beat gestures, namely how they mark both information focus and rhythmic positions in speech, can be beneficial for learning either a first or a second language. The main go...

  7. Observations of apparent superslow wave propagation in solar prominences

    Science.gov (United States)

    Raes, J. O.; Van Doorsselaere, T.; Baes, M.; Wright, A. N.

    2017-06-01

    Context. Phase mixing of standing continuum Alfvén waves and/or continuum slow waves in atmospheric magnetic structures such as coronal arcades can create the apparent effect of a wave propagating across the magnetic field. Aims: We observe a prominence with SDO/AIA on 2015 March 15 and find the presence of oscillatory motion. We aim to demonstrate that interpreting this motion as a magneto hydrodynamic (MHD) wave is faulty. We also connect the decrease of the apparent velocity over time with the phase mixing process, which depends on the curvature of the magnetic field lines. Methods: By measuring the displacement of the prominence at different heights to calculate the apparent velocity, we show that the propagation slows down over time, in accordance with the theoretical work of Kaneko et al. We also show that this propagation speed drops below what is to be expected for even slow MHD waves for those circumstances. We use a modified Kippenhahn-Schlüter prominence model to calculate the curvature of the magnetic field and fit our observations accordingly. Results: Measuring three of the apparent waves, we get apparent velocities of 14, 8, and 4 km s-1. Fitting a simple model for the magnetic field configuration, we obtain that the filament is located 103 Mm below the magnetic centre. We also obtain that the scale of the magnetic field strength in the vertical direction plays no role in the concept of apparent superslow waves and that the moment of excitation of the waves happened roughly one oscillation period before the end of the eruption that excited the oscillation. Conclusions: Some of the observed phase velocities are lower than expected for slow modes for the circumstances, showing that they rather fit with the concept of apparent superslow propagation. A fit with our magnetic field model allows for inferring the magnetic geometry of the prominence. The movie attached to Fig. 1 is available at http://www.aanda.org

  8. Prominence and tornado dynamics observed with IRIS and THEMIS

    Science.gov (United States)

    Schmieder, Brigitte; Levens, Peter; Labrosse, Nicolas; Mein, Pierre; Lopez Ariste, Arturo; Zapior, Maciek

    2017-08-01

    Several prominences were observed during campaigns in September 2013 and July 2014 with the IRIS spectrometer and the vector magnetograph THEMIS (Tenerife). SDO/AIA and IRIS provided images and spectra of prominences and tornadoes corresponding to different physical conditions of the transition region between the cool plasma and the corona. The vector magnetic field was derived from THEMIS observations by using the He D3 depolarisation due to the magnetic field. The inversion code (PCA) takes into account the Hanle and Zeeman effects and allows us to compute the strength and the inclination of the magnetic field which is shown to be mostly horizontal in prominences as well as in tornadoes. Movies from SDO/AIA in 304 A and Hinode/SOT in Ca II show the highly dynamic nature of the fine structures. From spectra in Mg II and Si IV lines provided by IRIS and H-alpha observed by the Multi-channel Subtractive Double Pass (MSDP) spectrograph in the Meudon Solar Tower we derived the Doppler shifts of the fine structures and reconstructed the 3D structure of tornadoes. We conclude that the apparent rotation of AIA tornadoes is due to large-scale quasi-periodic oscillations of the plasma along more or less horizontal magnetic structures.

  9. Invasive treatment for carotid fibromuscular dysplasia

    Science.gov (United States)

    Maciejewski, Damian R.; Dzierwa, Karolina; Kabłak-Ziembicka, Anna; Michalski, Michał; Wójcik-Pędziwiatr, Magdalena; Brzychczy, Andrzej; Moczulski, Zbigniew; Żmudka, Krzysztof; Pieniążek, Piotr

    2015-01-01

    Introduction Fibromuscular dysplasia (FMD) is an infrequent non-inflamatory disease of unknown etiology that affects mainly medium-size arteries. The prevalence of FMD among patients scheduled for endovascular treatment of carotid artery stenosis is unknown. Aim To evaluate the prevalence and treatment options of carotid FMD in patients scheduled for carotid artery stenting (CAS). Material and methods Between Jan 2001 and Dec 2013, 2012 CAS procedures were performed in 1809 patients (66.1% men; age 65.3 ±8.4 years, 49.2% symptomatic). In case of FMD suspicion in Doppler-duplex ultrasound (DUS), computed tomography angiography was performed for aortic arch and extracranial and intracranial artery imaging. For invasive treatment of FMD carotid stenosis, balloon angioplasty was considered first. If the result of balloon angioplasty was not satisfactory (> 30% residual stenosis, dissection), stent placement was scheduled. All patients underwent follow-up DUS and neurological examination 3, 6 and 12 months after angioplasty, then annually. Results There were 7 (0.4%) (4 symptomatic) cases of FMD. The FMD group was younger (47.9 ±7.5 years vs. 67.2 ±8.9 years, p = 0.0001), with higher prevalence of women (71.4% vs. 32.7%, p = 0.0422), a higher rate of dissected lesions (57.1% vs. 4.6%, p = 0.0002) and less severe stenosis (73.4% vs. 83.9%, p = 0.0070) as compared to the non-FMD group. In the non-FMD group the prevalence of coronary artery disease was higher (65.1% vs. 14.3% in FMD group, p = 0.009). All FMD patients underwent successful carotid artery angioplasty with the use of neuroprotection devices. In 4 cases angioplasty was supported by stent implantation. Conclusions Fibromuscular dysplasia is rare among patients referred for CAS. In case of significant FMD carotid stenosis, it may be treated with balloon angioplasty (stent supported if necessary) with optimal immediate and long-term results. PMID:26161104

  10. Synthetic differential emission measure curves of prominence fine structures. II. The SoHO/SUMER prominence of 8 June 2004

    Czech Academy of Sciences Publication Activity Database

    Gunár, Stanislav; Parenti, S.; Anzer, U.; Heinzel, Petr; Vial, J. C.

    2011-01-01

    Roč. 535, November (2011), A122/1-A122/11 ISSN 0004-6361 R&D Projects: GA ČR GP205/09/P554; GA ČR GA205/09/1705; GA ČR GAP209/10/1706 Institutional research plan: CEZ:AV0Z10030501 Keywords : Sun * filaments * prominences Subject RIV: BN - Astronomy, Celestial Mechanics, Astrophysics Impact factor: 4.587, year: 2011

  11. Appropriate fluid regimens to prevent bronchopulmonary dysplasia.

    Science.gov (United States)

    Tammela, O K

    1995-01-01

    Pulmonary oedema is an important problem in premature neonates with surfactant deficiency because of fluid accumulation in the lung interstitium and reduced urine output. Some retrospective reports suggest that excessive early hydration might increase the risk of bronchopulmonary dysplasia (BPD). Only three prospective studies evaluating low or conventional fluid administration regimens to very low birth weight infants have been published. According to their results no significant differences in the incidence of BPD have been shown. However, fluid restriction seems to improve the outcome of the infants because of decreased incidence of haemodynamically significant patent ductus arteriosus, necrotizing enterocolitis, pulmonary air leaks and decreased mortality. The appropriate amount of sodium in the intravenous fluids during the first days of life needs further evaluation. In tiny infants with birth weights from 500 to 800g intensive monitoring of fluid balance is essential to control the extremely high fluid losses due to evaporation. Undernutrition is a risk factor of BPD and therefore it is important to start parenteral nutrition early. The benefit of the use of colloids as volume expanders is controversial. According to some retrospective reports there might be an association with increased use of colloidal fluids during the first days of life and the development of BPD. Early excessive fluid administration might constitute a potential risk for low birth weight infants with hyaline membrane disease.(ABSTRACT TRUNCATED AT 250 WORDS)

  12. Periapical cemento-osseous dysplasia: clinicopathological features.

    Science.gov (United States)

    Roghi, Marco; Scapparone, Chiara; Crippa, Rolando; Silvestrini-Biavati, Armando; Angiero, Francesca

    2014-05-01

    Periapical cemento-osseous dysplasia (PCOD) is a rare benign lesion, often asymptomatic, in which fibrous tissue replaces the normal bone tissue, with metaplasic bone and neo-formed cement. We present a rare case of mandibular PCOD in a woman of 55 years, who presented with moderate swelling and mobility of teeth 32-33-34. Endoral radiography showed that these teeth had been devitalized; they had deep periodontal pockets and marked radicular radiotransparency; the root apices exhibited mixed radiotransparency and radio-opacity. Clinical and radiographical findings led to a diagnosis of periapical rarefying osteitis, and the three teeth were thus extracted. Due to the persistence of swelling and slight pain post-extraction, a cone-beam computed tomographic scan was taken; this showed a mixed radiotransparent and radio-opaque lesion in the area of the extracted teeth. A bone biopsy of the affected area was taken for histopathological evaluation; a diagnosis of PCOD was rendered. This case demonstrates the importance of a full investigation when a patient presents after tooth extraction with non-healing socket, pain, and swelling. A multidisciplinary approach is required to manage these rare cases.

  13. [Mondini dysplasia: recurrent bacterial meningitis in adolescence].

    Science.gov (United States)

    Vargas-Dĭaz, J; Garófalo-Gómez, N; Rodríguez, U; Parra, M; Barroso-García, E; Novoa-López, L; Rojas-Massipe, E; Sardiñas-Hernández, N L

    Episodes of recurrent bacterial meningitis can occur in patients due to either congenital or acquired disorders. Congenital deformity of the bony labyrinth can be linked to a fistulous tract communicating it with the intracranial subarachnoid space. Mondini deformity is a frequent malformation in congenitally deaf patients. We report the case of an adolescent with a history of being unable to hear in one ear who, from the age of 10 years, began to suffer repeated bacterial meningoencephalitis with microbiological recovery of Streptococcus pneumoniae on three occasions. The type of germ recovered in the cerebrospinal fluid (CSF) and the history of congenital deafness that was detected when the patient was 3 years old were the diagnostic clues to the possible anomaly of the inner ear with a CSF fistula. The clinically proven CSF rhinorrhea contributed to the diagnosis of an ear anomaly with a fistula. Computerised axial tomography and magnetic resonance studies of the petrous portion of the temporal bone revealed the malformation that was later found and closed during the surgical intervention on the affected ear. The clinical absence of rhinorrhea, a year's progression without new infections after operating on the patient and post-surgery imaging studies were all proof that the fistula had closed. Mondini dysplasia with CSF fistula must be included as a possible diagnosis when faced with a patient with recurrent bacterial meningoencephalitis. Imaging studies, especially magnetic resonance, enable the clinician to check the diagnosis and the CSF fistula can be closed with ear surgery.

  14. ARE GIANT TORNADOES THE LEGS OF SOLAR PROMINENCES?

    Energy Technology Data Exchange (ETDEWEB)

    Wedemeyer, Sven; Scullion, Eamon; Rouppe van der Voort, Luc; Bosnjak, Antonija [Institute of Theoretical Astrophysics, University of Oslo, P.O. Box 1029 Blindern, NO-0315 Oslo (Norway); Antolin, Patrick, E-mail: sven.wedemeyer@astro.uio.no [Centre for Mathematical Plasma Astrophysics, Department of Mathematics, KU Leuven, Celestijnenlaan 200B, bus 2400, B-3001 Leuven (Belgium)

    2013-09-10

    Observations in the 171 A channel of the Atmospheric Imaging Assembly of the space-borne Solar Dynamics Observatory show tornado-like features in the atmosphere of the Sun. These giant tornadoes appear as dark, elongated, and apparently rotating structures in front of a brighter background. This phenomenon is thought to be produced by rotating magnetic field structures that extend throughout the atmosphere. We characterize giant tornadoes through a statistical analysis of properties such as spatial distribution, lifetimes, and sizes. A total number of 201 giant tornadoes are detected in a period of 25 days, suggesting that, on average, about 30 events are present across the whole Sun at a time close to solar maximum. Most tornadoes appear in groups and seem to form the legs of prominences, thus serving as plasma sources/sinks. Additional H{alpha} observations with the Swedish 1 m Solar Telescope imply that giant tornadoes rotate as a structure, although they clearly exhibit a thread-like structure. We observe tornado groups that grow prior to the eruption of the connected prominence. The rotation of the tornadoes may progressively twist the magnetic structure of the prominence until it becomes unstable and erupts. Finally, we investigate the potential relation of giant tornadoes to other phenomena, which may also be produced by rotating magnetic field structures. A comparison to cyclones, magnetic tornadoes, and spicules implies that such events are more abundant and short-lived the smaller they are. This comparison might help to construct a power law for the effective atmospheric heating contribution as a function of spatial scale.

  15. ARE GIANT TORNADOES THE LEGS OF SOLAR PROMINENCES?

    International Nuclear Information System (INIS)

    Wedemeyer, Sven; Scullion, Eamon; Rouppe van der Voort, Luc; Bosnjak, Antonija; Antolin, Patrick

    2013-01-01

    Observations in the 171 Å channel of the Atmospheric Imaging Assembly of the space-borne Solar Dynamics Observatory show tornado-like features in the atmosphere of the Sun. These giant tornadoes appear as dark, elongated, and apparently rotating structures in front of a brighter background. This phenomenon is thought to be produced by rotating magnetic field structures that extend throughout the atmosphere. We characterize giant tornadoes through a statistical analysis of properties such as spatial distribution, lifetimes, and sizes. A total number of 201 giant tornadoes are detected in a period of 25 days, suggesting that, on average, about 30 events are present across the whole Sun at a time close to solar maximum. Most tornadoes appear in groups and seem to form the legs of prominences, thus serving as plasma sources/sinks. Additional Hα observations with the Swedish 1 m Solar Telescope imply that giant tornadoes rotate as a structure, although they clearly exhibit a thread-like structure. We observe tornado groups that grow prior to the eruption of the connected prominence. The rotation of the tornadoes may progressively twist the magnetic structure of the prominence until it becomes unstable and erupts. Finally, we investigate the potential relation of giant tornadoes to other phenomena, which may also be produced by rotating magnetic field structures. A comparison to cyclones, magnetic tornadoes, and spicules implies that such events are more abundant and short-lived the smaller they are. This comparison might help to construct a power law for the effective atmospheric heating contribution as a function of spatial scale

  16. Retinal tear presenting in a patient with ectrodactyly ectodermal dysplasia.

    Science.gov (United States)

    Grogg, Jane Ann; Port, Nicholas; Graham, Trevor

    2014-04-01

    This article aims to report a case of known ectrodactyly ectodermal dysplasia in a young male patient who subsequently was found to have a retinal tear and localized retinal detachment. This is a case report of a 22-year-old white male patient with a history of ectrodactyly ectodermal dysplasia. Our patient initially presented with an acute exacerbation of bilateral, red, irritated eyes. No recent changes in vision were reported. The patient's ocular surface disease was consistent with ectrodermal dysplasia syndrome. However, a dilated fundus examination revealed an asymptomatic retinal tear with a surrounding localized retinal detachment. In this case, the patient presented with longstanding ocular surface disease known to be associated with this patient's inherited ectoderm disorder. In addition, this patient revealed a retinal tear, raising the possibility that patients with inherited congenital ectodermal dysplasia could be at risk for damaged structures originating from the neural ectoderm. In this heterogeneous disease, we are contributing to the existing literature a case of ectodermal dysplasia syndrome with obvious ectodermal complications that also had retinal findings leading us to speculate question if neural ectoderm could also be involved in this inherited disease.

  17. Recurring fibrous dysplasia of anthro maxillary with cranial base invasion

    Directory of Open Access Journals (Sweden)

    Sousa, Kátia Maria Marabuco de

    2009-09-01

    Full Text Available Introduction: Fibrous dysplasia is an osseous lesion with an unknown etiology. It is characterized by the osseous maturation insufficiency. It may affect any bone, but the affection of craniofacial bones is the most critical for otorhinolaryngology. Maxilla is the most affected facial bone and the orbitary invasion is an uncommon event. The symptoms are unspecific and for its low suspicion and uncommonness, the diagnosis is generally late. The monostotic form presents a slow growth and asymptomatic course and needs to be followed up. The polyostotic type has a progressive behavior and is associated to recurrence and complications. Objective: To present two cases of patients with fibrous dysplasia diagnosis and describe the clinical presentation, radiological findings and the treatment of this pathology. Cases Report: Two cases of fibrous dysplasia are reported, which initially presented unspecific symptomatology, but with characteristic radiologic signs. They were submitted to surgical treatment for resection of the lesions and evolved with frequent recurrences with extensive affection of the facial sinuses, one patient had cranial base invasion and frontal craniotomy was needed for tumoral excision. Final Comments: Fibrous dysplasia is an uncommon osteopathy. The tomography is the choice method for characterization of the tumoral expansion, and helps in the surgical planning. The surgical strategy is indicated for symptomatic lesions, functions alterations or anatomic disorders. This article describes two uncommon manifestations of recurrent fibrous dysplasia with an extensive affection of anthro maxillary, ethmoidal and sphenoid sinuses, in addition to orbitary and cranial base invasion.

  18. Immunohistochemical Expression of MCM-2 in Oral Epithelial Dysplasias.

    Science.gov (United States)

    Zakaria, Samar H; Farag, Heba A; Khater, Dina S

    2016-03-17

    Oral cancer is one of the most frequent cancers in the world. It arises from epithelial dysplasia. Hence, identifying these lesions in an early stage could prevent their malignant transformation. The aim of the present work was to assess the cell proliferative activity of minichromosome maintenance protein (MCM-2) in oral epithelial dysplastic lesions and to correlate the results with different grades of epithelial dysplasia in an attempt to use MCM-2 in the early detection of malignancy. MCM-2 expression was determined by the nuclear count in a total of 30 oral epithelial dysplastic specimens roughly classified into 10 cases of mild, moderate, and severe dysplasia. Five cases of early invasive squamous-cell carcinomas and 5 cases of epithelial hyperplasia were also included. The MCM-2 immunostaining was found to increase gradually from mild to moderate to severe dysplasia and reached its maximum value in early invasive squamous cell carcinoma. MCM-2 is of prognostic value in cases of oral dysplasia that have a tendency to undergo malignant transformation.

  19. Craniofacial fibrous dysplasia - A review of current management techniques

    Directory of Open Access Journals (Sweden)

    Yadavalli Guruprasad

    2012-01-01

    Full Text Available Fibrous dysplasia is a pathologic condition of bone of unknown etiology with no apparent familial, hereditary or congenital basis. Lichtenstein first coined the term in 1938 and in 1942 he and Jaffe separated it from other fibro-osseous lesions. It is a bone tumor that, although benign, has the potential to cause significant cosmetic and functional disturbance, particularly in the craniofacial skeleton. Its management poses significant challenges to the surgeon. Craniofacial fibrous dysplasia is 1 of 3 types of fibrous dysplasia that can affect the bones of the craniofacial complex, including the mandible and maxilla. Fibrous dysplasia is a skeletal developmental disorder of the bone-forming mesenchyme that manifests as a defect in osteoblastic differentiation and maturation. It is a lesion of unknown etiology, uncertain pathogenesis, and diverse histopathology. Fibrous dysplasia represents about 2, 5% of all bone tumors and over 7% of all benign tumours. Over the years, we have gained a better understanding of its etiology, clinical behavior, and both surgical and non-surgical treatments.

  20. Concurrent follicular dysplasia and interface dermatitis in Boxer dogs.

    Science.gov (United States)

    Rachid, Milene A; Demaula, Christopher D; Scott, Danny W; Miller, William H; Senter, David A; Myers, Sherry

    2003-06-01

    Recurrent or persistent follicular dysplasia and interface dermatitis are described in nine Boxers. Data on age, sex, seasonality of alopecia and histopathological features of the follicular dysplasia in these nine Boxers are comparable with those described in previous reports. The interface dermatitis was characterized by multifocal annular crusted lesions confined to the areas of follicular dysplasia. The inflammatory lesions were neither pruritic nor painful and affected dogs were otherwise healthy. Histopathologically the clinically inflammatory lesions were characterized as an interface dermatitis. Immunohistochemical studies failed to demonstrate immunoglobulins or complement at the basement membrane zone or within blood vessel walls. In dogs with recurrent or persistent disease, the follicular dysplasia and interface dermatitis ran identical, concurrent courses of spontaneous remission and recurrence, or persistence, respectively. One dog with persistent disease was treated successfully with tetracycline and niacinamide for the interface dermatitis, and melatonin for the follicular dysplasia. Although the aetiopathogenesis of this newly described condition and the relationship between the two histological reaction patterns are not known, photoperiod and genetic predisposition appear to play a role.

  1. Perceptions of Social Responsibility of Prominent Animal Welfare Groups.

    Science.gov (United States)

    Widmar, Nicole J Olynk; Morgan, Carissa J; Croney, Candace C

    2018-01-01

    Nonhuman animal welfare is an increasingly important component of consumer expectations of corporate social responsibility (CSR). The extent to which prominent animal welfare or protection organizations may influence people's perceptions of food industry CSR may be related to an organization's perceived social responsibility. Data from an online survey of 300 U.S. residents were used to explore relationships between demographics/lifestyle choices and perceptions of prominent animal welfare organizations (using best-worst scaling methodology). Overall, the American Society for the Prevention of Cruelty to Animals was perceived to be the most socially responsible organization analyzed, followed by the Humane Society of the United States and the American Humane Association (AHA). Results suggest that the perceived social responsibility of animal protection organizations in this study was not strongly linked to personally (financially) supporting them, with 2 exceptions: the perceptions of People for the Ethical Treatment of Animals and AHA. Improved understanding of the perception of animal welfare or protection organizations can inform decision making by organizations interested in furthering animal welfare causes.

  2. Word-level prominence in Persian: An Experimental Study.

    Science.gov (United States)

    Sadeghi, Vahid

    2017-12-01

    Previous literature on the phonetics of stress in Persian has reported that fundamental frequency is the only reliable acoustic correlate of stress, and that stressed and unstressed syllables are not differentiated from each other in the absence of accentuation. In this study, the effects of lexical stress on duration, overall intensity and spectral tilt were examined in Persian both in the accented and unaccented conditions. Results showed that syllable duration is consistently affected by stress in Persian in both the accented and unaccented conditions across all vowel types. Unlike duration, the results for overall intensity and spectral tilt were significant only in the accented condition, suggesting that measures of intensity are not a correlate of stress in Persian but they are mainly caused by the presence of a pitch movement. The findings are phonologically interpreted as suggesting that word-level prominence in Persian is typologically similar to 'stress accent' languages, in which multiple phonetic cues are used to signal the prominence contrast in the accented condition, and stressed and unstressed syllables are different from each other even when the word is not pitch-accented.

  3. Magnetic field re-arrangement after prominence eruption

    International Nuclear Information System (INIS)

    Kopp, R.A.; Poletto, G.

    1986-01-01

    It has long been known that magnetic reconnection plays a fundamental role in a variety of solar events. Although mainly invoked in flare problems, large-scale loops interconnecting active regions, evolving coronal hole boundaries, the solar magnetic cycle itself, provide different evidence of phenomena which involve magnetic reconnection. A further example might be given by the magnetic field rearrangement which occurs after the eruption of a prominence. Since most often a prominence reforms after its disappearance and may be observed at about the same position it occupied before erupting, the magnetic field has to undergo a temporary disruption to relax back, via reconnection, to a configuration similar to the previous one. The above sequence of events is best observable in the case of two-ribbon (2-R) flares but most probably is associated with all filament eruptions. Even if the explanation of the magnetic field rearrangement after 2-R flares in terms of reconnection is generally accepted, the lack of a three-dimensional model capable of describing the field reconfiguration, has prevented, up to now, a thorough analysis of its topology as traced by Hα/x-ray loops. The purpose of the present work is to present a numerical technique which enables one to predict and visualize the reconnected configuration, at any time t, and therefore allows one to make a significant comparison of observations and model predictions throughout the whole process. 5 refs., 3 figs

  4. Physics of solar prominences. Proceedings of the Colloquium, Oslo, Norway, August 14-18, 1978

    Energy Technology Data Exchange (ETDEWEB)

    Jensen, E; Maltby, P

    1979-01-01

    These papers deal with recent theoretical and observational studies of the physics of solar prominences. Specific topics include reviews of prominence spectra and their interpretation, polarimetric observations and magnetic-field determination in prominences, observations of the prominence-corona interface, theories on the formation and stability of quiescent prominences, prominence classifications, observations of active prominences, observations and interpretations of coronal manifestations of eruptive prominences, and models of prominence structure and dynamics. Other contributions discuss simultaneous observations of Ca II and hydrogen Balmer lines in quiescent prominences, recent results in quiescent-prominence spectroscopy, the solar helium abundance obtained from optical spectra of quiescent prominences, and Stokes polarimetry of quiescent prominences in the He I D3 line. Magnetic-field determination based on the Hanle effect is also examined, along with the orientation of prominence microstructure relative to magnetic-field direction, radio observations of quiescent-prominence filaments at centimeter and millimeter wavelengths, EUV observations of filaments, and a magnetic-field reconnection model of quiescent prominences.

  5. Automatic detection of prominence (as defined by listeners' judgements) in read aloud Dutch sentences

    NARCIS (Netherlands)

    Streefkerk, B.M.; Pols, L.C.W.; ten Bosch, L.F.M.

    1998-01-01

    This paper describes a first step towards the automatic classification of prominence (as defined by native listeners). As a result of a listening experiment each word in 500 sentences was marked with a rating scale between `0' (non-prominent) and `10' (very prominent). These prominence labels are

  6. Familial florid Cemento-osseous dysplasia - case report and review of literature.

    Science.gov (United States)

    Thorawat, Amit; Kalkur, Chaitra; Naikmasur, Venkatesh G; Tarakji, Bassel

    2015-12-01

    Familial Florid cemento-osseous dysplasia is a very uncommon condition. Cemento-osseous dysplasia is totally asymptomatic in many cases, in those conditions, lesions are detected in a radiograph taken for other purposes. In this report, we describe a family in which mother and daughter exhibited clinical, radiographic, and histologic features of florid cemento-osseous dysplasia.

  7. Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population

    OpenAIRE

    Woo, Eun Jin; Lee, Won-Joon; Hu, Kyung-Seok; Hwang, Jae Joon

    2015-01-01

    Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities, morphological features, metric data, and computed tomography scans are analyzed. Differential diagnoses include achondroplasia or hypochondroplasia, chondrodysplasia, multiple epiphyseal dysplasia, thalassemia-related hemolytic anemia, and l...

  8. Inclination and anteversion of Collum femoris in hip dysplasia and coxarthritis

    Energy Technology Data Exchange (ETDEWEB)

    Madsen, J. S.; Svalastoga, E. [Kongelige Veterinaer- og Landbohoejskole, Copenhagen (Denmark)

    1994-07-01

    Femoral neck angles were measured radiographically in 41 dogs examined for hip dysplasia. Steep femoral neck inclination was found to be a phenomenon of hip dysplasia and coxofemoral joint laxity. The altered biomechanics of a steep femoral neck inclination may be a factor in the pathogenesis of hip dysplasia and secondary osteoarthritis.

  9. Influence of hip dysplasia on the development of osteoarthritis of the hip

    NARCIS (Netherlands)

    A.M. Lievense (Annet); S.M. Bierma-Zeinstra (Sita); A.P. Verhagen (Arianne); J.A.N. Verhaar (Jan); B.W. Koes (Bart)

    2004-01-01

    textabstractBackground: It has been suggested that in some patients with primary hip osteoarthritis (OA), the disease occurs as a consequence of acetabular dysplasia or hip dysplasia (HD). Objective: To carry out a systematic review to investigate the association between acetabular dysplasia and hip

  10. Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia

    International Nuclear Information System (INIS)

    Grattan-Smith, J.D.; Little, Stephen B.; Jones, Richard A.

    2008-01-01

    MR urography has the potential to significantly improve our understanding of the relationship between reflux nephropathy, pyelonephritis, vesicoureteric reflux and renal dysplasia. MR urography utilizes multiple parameters to assess both renal anatomy and function and provides a more complete characterization of acquired and congenital disease. Pyelonephritis and renal scarring can be distinguished by assessing the parenchymal contours and signal intensity. Characteristic imaging features of renal dysplasia include small size, subcortical cysts, disorganized architecture, decreased and patchy contrast enhancement as well as a dysmorphic pelvicalyceal system. Because of its ability to subdivide and categorize this heterogeneous group of disorders, it seems inevitable that MR urography will replace DMSA renal scintigraphy as the gold standard for assessment of pyelonephritis and renal scarring. MR urography will contribute to our understanding of renal dysplasia and its relationship to reflux nephropathy. (orig.)

  11. A case report of arrhythmogenic right ventricular dysplasia

    Directory of Open Access Journals (Sweden)

    Henry Anselmo Mayala

    2013-07-01

    Full Text Available Background Arrhythmogenic right ventricular dysplasia is an autosomal dominant disorder affecting parts of myocardium known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The hallmark feature is fibro-fatty replacement of the right ventricle myocardium characterized by hypokinetic areas with associated arrhythmias originating in the right ventricle. Case Presentation In this report a 42 year old man was admitted at Wuhan union Hospital with the presenting complaints of visual hallucination and difficulty in breathing on exertion, with a family history of sudden death. Clinical and imaging findings are suggestive of Arrhythmogenic right ventricular dysplasia. Conclusion Despite being among the rare cardiac disease, Arrhythmogenic right ventricular dysplasia is an important cause of ventricular arrhythmias in children and young adults, it is also responsible for sudden cardiac death in the young population, making it necessary for this case report.

  12. A case report of arrhythmogenic right ventricular dysplasia

    Directory of Open Access Journals (Sweden)

    Henry Anselmo Mayala

    2013-01-01

    Full Text Available Background Arrhythmogenic right ventricular dysplasia is an autosomal dominant disorder affecting parts of myocardium known as desmosomes, areas on the surface of heart muscle cells which link the cells together. The hallmark feature is fibro-fatty replacement of the right ventricle myocardium characterized by hypokinetic areas with associated arrhythmias originating in the right ventricle. CasePresentation Inthisreporta42yearoldmanwasadmittedatWuhanunion Hospital with the presenting complaints of visual hallucination and difficulty in breathing on exertion, with a family history of sudden death. Clinical and imaging findings are suggestive of Arrhythmogenic right ventricular dysplasia. Conclusion Despitebeingamongtherarecardiacdisease,Arrhythmogenicright ventricular dysplasia is an important cause of ventricular arrhythmias in children and young adults, it is also responsible for sudden cardiac death in the young population, making it necessary for this case report.

  13. Hereditary ectodermal dysplasia: Report of 11 patients from a family

    Directory of Open Access Journals (Sweden)

    Seema Vaidya

    2013-01-01

    Full Text Available Hereditary Ectodermal Dysplasia is an inherited disorder commonly involving skin, teeth, hair, and nails. We have observed ectodermal dysplasia (EDs in 11 individuals over two generations in one family. Smooth, dry, thin skin was seen in most affected individuals. All had fine, slow-growing scalp hair and body hair and some had sparse eyebrows and short eyelashes. Nearly all showed decrease in sweating. Severe teeth abnormalities were seen in all patients and fingernail abnormalities were not so severe but toenail abnormalities were seen in all patients. No other abnormalities were seen in affected individuals in this family. It is very rare to find such a large family having ectodermal dysplasia.

  14. Death due to complications of anhidrotic ectodermal dysplasia.

    Science.gov (United States)

    Ogden, Emily; Schandl, Cynthia; Tormos, Lee Marie

    2014-11-01

    Ectodermal dysplasia comprises a group of disorders affecting ectodermal tissues. Severity depends on the genetic aberration; hyperpyrexia secondary to absence of sweat glands is a common complication. Treatment is supportive. This case report describes a 1-month, 27-day-old male infant with a diagnosis of X-linked recessive anhidrotic ectodermal dysplasia. On the day of his death, his mother swaddled him in a blanket and placed him on the couch at 5:30 am. When she picked him up at 8:00 am, he was unresponsive. At the emergency department, his rectal temperature was 40°C. Postmortem blood culture was positive for group B streptococcus, a possible etiology for fever. It is vital to teach parents that close monitoring of children with ectodermal dysplasia is necessary, as an increase in body temperature can become life threatening. © 2014 American Academy of Forensic Sciences.

  15. Infantile bilateral glaucoma in a child with ectodermal dysplasia.

    Science.gov (United States)

    Callea, Michele; Vinciguerra, Agatino; Willoughby, Colin E; Deroma, Laura; Clarich, Gabriella

    2013-01-01

    Ectodermal dysplasia is a rare disease which affects at least two ectodermal-derived structures such as hair, nails, skin, sweat glands and teeth. Approximately 200 different conditions have been classified as an ectodermal dysplasia and X-linked hypohidrotic ectodermal dysplasia (XHED) represents the commonest form. Clinically, XHED is characterized by hypotrichosis, hypohidrosis and hypodontia. A variety of ocular manifestations have been reported in XHED, the most common being dryness of eyes due to tear deficiency and instability of the film secondary to the absence of meibomian gland function. Here we report a child with the distinctive clinical features of XHED confirmed with molecular diagnosis who presented with infantile bilateral glaucoma, in addition to the classical ocular involvement in XHED.

  16. FOXI2: a possible gene contributing to ectodermal dysplasia.

    Science.gov (United States)

    Kurban, Mazen; Zeineddine, Savo Bou; Hamie, Lamiaa; Safi, Remi; Abbas, Ossama; Kibbi, Abdul Ghani; Bitar, Fadi; Nemer, Georges

    2017-12-01

    Cardio-facio-cutaneous syndrome (CFC), Noonan syndrome (NS), and Costello syndrome are a group of diseases that belong to the RASopathies. The syndromes share clinical features making diagnosis a challenge. To investigate the phenotype and genotype of a 10-year-old Iraqi girl with overlapping features of CFC, NS, and Costello syndromes, with additional features of ectodermal dysplasia. DNA was examined by exome sequencing and protein expression by immunohistochemistry. Exome sequencing identified a mutation in the SOS1 gene and a de novo deletion in the FOXI2 gene which was neither present in the international databases, nor in 400 chromosomes from the same population. Based on immunohistochemical staining, FOXI2 was identified in the basal cell layer of the skin and overlapped with the expression of P63, a major player in ectodermal dysplasia. We therefore suggest screening for FOXI2 mutation in the setting of ectodermal features that are not associated with genes known to contribute to ectodermal dysplasia.

  17. Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome.

    Science.gov (United States)

    Hou, Yikang; Jin, Yunbo; Lin, Xiaoxi; Chai, Gang; Zhang, Yan; Qi, Zuoliang

    2017-06-01

    Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. Appearances of nail dystrophy, alopecia or hypotrichosis, saddle nose deformity, and palmoplantar hyperkeratosis are usually associated with a lack of sweat glands as well as partial or complete absence of teeth. These manifestations are usually corrected only with oral rehabilitation by mounting dentures. In this study, plastic rehabilitation was developed to correct the special features of patients with ectodermal dysplasia. Four men and 1 woman with ectodermal dysplasia syndrome were treated. Four patients showed dysostosis of the midface, and rhinoplasty with costal bone was performed, whereas cosmetic operation aiming to repair soft tissue defects was adopted for the last patient. After plastic corrections, all 5 patients were satisfied with the results and had no social embarrassment.

  18. Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Grattan-Smith, J.D. [Emory University School of Medicine, Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Little, Stephen B. [Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States); Jones, Richard A. [Emory University School of Medicine, Children' s Healthcare of Atlanta, Department of Radiology, Atlanta, GA (United States)

    2008-01-15

    MR urography has the potential to significantly improve our understanding of the relationship between reflux nephropathy, pyelonephritis, vesicoureteric reflux and renal dysplasia. MR urography utilizes multiple parameters to assess both renal anatomy and function and provides a more complete characterization of acquired and congenital disease. Pyelonephritis and renal scarring can be distinguished by assessing the parenchymal contours and signal intensity. Characteristic imaging features of renal dysplasia include small size, subcortical cysts, disorganized architecture, decreased and patchy contrast enhancement as well as a dysmorphic pelvicalyceal system. Because of its ability to subdivide and categorize this heterogeneous group of disorders, it seems inevitable that MR urography will replace DMSA renal scintigraphy as the gold standard for assessment of pyelonephritis and renal scarring. MR urography will contribute to our understanding of renal dysplasia and its relationship to reflux nephropathy. (orig.)

  19. Radiological analysis of polyostotic fibrous dysplasia in skeletal system

    International Nuclear Information System (INIS)

    Shin, Ma Rie; Kim, Jin Sik; Kim, Han Suk; Park, Soo Soung

    1984-01-01

    Over a period of recent 3 years, the 5 cases of polyostotic fibrous dysplasia were proven histologically at National Medical Center, and they were evaluated and analyzed radiologically and clinically. The results were as follows: 1. The age of 5 patients ranged from 12 to 21. 2. In general, clinical symptoms of these patients were pain of affected sites and swelling , fracture, walking disturbance of lower extremities. 3. The order of frequent site of polyostotic fibrous dysplasia was skull (4 cases), femur (3 cases), maxilla (2 case), humerus, tibia, rib, radius, metacarpal bone and phalanx. 4. The characteristic radiological findings of polyostotic fibrous dysplasia were multicystic lesions with ground glass appearance, osteosclerosis, cortical thinning and pathologic fracture and deformity of long bones. Particularly, in the extremities, multicystic radiolucencies, groud glass appearance, shepherd's crook and coxa vara deformities were noticed, and in the skull and maxilla, sclerotic changes were principally demonstrated.

  20. Pelvic orientation and assessment of hip dysplasia in adults

    DEFF Research Database (Denmark)

    Jacobsen, S.; Holm, S.S.; Lund, B.

    2004-01-01

    on the measurements of radiographic indices of hip dysplasia. MATERIAL AND METHODS: We investigated the effect of varying pelvic orientation on radiographic measurements of acetabular dysplasia using a cadaver model. Results from the cadaver study were used to validate the radiographic assessments of acetabular...... radiograph was recorded at each 3 degrees increment. The most widely used radiographic parameters of hip dysplasia were assessed. 2) Critical limits of acceptable rotation and inclination/reclination of pelvises were determined on 4151 standing, standardised pelvic radiographs of the CCHS cohort. RESULTS......BACKGROUND: The study was performed to qualify the source material of 4151 pelvic radiographs for the research into the relationship between unrecognised childhood hip disorders and the development of hip osteoarthrosis, and to investigate the effect of varying degrees of pelvic tilt and rotation...

  1. Congenital (infantile) pseudarthrosis of the fibula associated with osteofibrous dysplasia

    International Nuclear Information System (INIS)

    Hisaoka, Masanori; Hashimoto, Hiroshi; Ohguri, Takayuki; Aoki, Takatoshi; Okamoto, Sumika; Ishida, Tsuyoshi; Tanaka, Hidetoshi; Okimoto, Nobukazu; Nakamura, Toshitaka

    2004-01-01

    We describe a recently noted association of congenital (infantile) pseudarthrosis of the lower leg with osteofibrous dysplasia. The patient was a 2-year-old boy who presented with a deformed left ankle joint and three cutaneous cafe-au-lait spots. Radiography demonstrated pseudarthrosis of the left distal fibula and a round lucent lesion adjacent to the proximal part of the pseudarthrosis. Histologically, the surgically removed fibula with pseudarthrosis showed a fibromatosis-like fibrovascular proliferation and nonspecific reparative changes. The focal lucent area demonstrated a fibro-osseous lesion, which was histologically identical to osteofibrous dysplasia. This case provides further evidence that osteofibrous dysplasia may be associated with congenital (infantile) pseudarthrosis of the lower leg. (orig.)

  2. Osseous Dysplasia Accompanied by a Complex Odontoma in the Mandible

    Directory of Open Access Journals (Sweden)

    N Jafari

    2017-05-01

    Full Text Available Introduction: Cement osseous dysplasia is the most common lesion of the family fibrous dysplasia which normal bone is replaced with fibrous tissue and several mineralized material. These lesions may be seen in association with various lesions. Companionship of this lesion with odontoma has been reported rarely. Case report: A 44-year-old female in one year ago has admitted to Shahid Sadoughi Faculty of Dentistry Yazd for treatment of mandibular left third molar. In panoramic radiography in the mandibular left first molar region, a mixed lesion of radiolucent-radiopaque with a corticated borderwas seen. Small swelling was observed in this area. Microscopically, the diagnosis of osseous dysplasia with odontoma for the lesion was confirmed. Conclusion: The reason of companionship of cement osseous lesions whit other lesions is not completely clear and it requires further evaluation.

  3. Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area

    Energy Technology Data Exchange (ETDEWEB)

    Han, Jin Woo; Kwon, Hyuk Rok; Lee, Jin Ho; Park, In Woo [Dept. of Oral and Maxillofacial Radiology, College of Dentistry, Kangnung National University, Kangnung (Korea, Republic of)

    2000-06-15

    Fibrous dysplasia is believed to be a hamartomatous developmental lesion of unknown origin. This disease is divided into monostotic and polyostotic fibrous dysplasia. Polyostotic type can be divided into craniofacial type, Lichtenstein-Jaffe type, and McCune-Albright syndrome. In this case, a 31-year-old female presented spontaneous loss of right mandibular teeth before 5 years and has shown continuous expansion of right mandibular alveolus. Through the radiographic view, the coarse pattern of the mixed radiopaque-lucent lesion was seen on the right mandibular body, and there was diffuse pattern of the mixed radiopaque-lucent lesion with ill-defined margin in the left mandibular body. In the right calvarium, the lesion had cotton-wool appearance. Partial excision for contouring, multiple extraction, and alveoloplasty were accomplished under general anesthesia for supportive treatment. Finally we could conclude this case was polyostotic fibrous dysplasia of cranio-maxillofacial area based on the clinical, radiologic finding, and histopathologic examination.

  4. Polyostotic Fibrous Dysplasia of Cranio-Maxillofacial Area

    International Nuclear Information System (INIS)

    Han, Jin Woo; Kwon, Hyuk Rok; Lee, Jin Ho; Park, In Woo

    2000-01-01

    Fibrous dysplasia is believed to be a hamartomatous developmental lesion of unknown origin. This disease is divided into monostotic and polyostotic fibrous dysplasia. Polyostotic type can be divided into craniofacial type, Lichtenstein-Jaffe type, and McCune-Albright syndrome. In this case, a 31-year-old female presented spontaneous loss of right mandibular teeth before 5 years and has shown continuous expansion of right mandibular alveolus. Through the radiographic view, the coarse pattern of the mixed radiopaque-lucent lesion was seen on the right mandibular body, and there was diffuse pattern of the mixed radiopaque-lucent lesion with ill-defined margin in the left mandibular body. In the right calvarium, the lesion had cotton-wool appearance. Partial excision for contouring, multiple extraction, and alveoloplasty were accomplished under general anesthesia for supportive treatment. Finally we could conclude this case was polyostotic fibrous dysplasia of cranio-maxillofacial area based on the clinical, radiologic finding, and histopathologic examination.

  5. Hereditary ectodermal dysplasia: A retrospective study

    Science.gov (United States)

    More, Chandramani B.; Bhavsar, Khusbhu; Joshi, Jigar; Varma, Saurabh N.; Tailor, Mansi

    2013-01-01

    Background: Ectodermal dysplasia (ED) is a group of rare, inherited disorders characterized by sparse hair, missing teeth and inability to sweat. Objective: To review and analyze cases of ED with an emphasis on clinical manifestations and parent's marriage history. Methodology: The present retrospective study was conducted by assessing the clinical records of nineteen cases of ED, available in the archives of the department; for age, gender, family history of consanguineous marriage and clinical manifestations. Results: It was observed that ED was more prevalent in males, with a ratio of 1.7:1. The hypohydrotic type was more common (78.95%) than hydrotic type (21.05%). The marriage history of parents revealed that 66.67% had consanguineous marriage and had 68.42% offspring's affected with ED; whereas 33.33% had history of non-consanguineous marriage and had 31.58% offspring's affected with ED. The clinical manifestations observed were- dry skin(94.74%); scaly skin(42.11%); sparse hair on scalp, eyebrows and eyelashes(100%); frontal bossing(63.18%); saddle nose (57.89%); hypertelorism (47.37%); nail abnormality(52.63%); normal sweat glands(21.05%); abnormal sweat glands(78.95%); hypoplastic maxilla(52.63%); protuberant lips (57.89%); palmo-plantar keratosis(21.05%); wrinkled & hyper pigmented facial skin(84.21%); partial anodontia(94.74%); conical shaped teeth(84.21%); high arched palate(68.42%); thin alveolar bone(100.00%); taurodontism(21.05%) and cleft lip & cleft palate(05.26%). The number of teeth present in all the cases ranged from 0 to 19. Conclusion: ED patients suffer from social problems and poor psychological and physiological development as a result of unacceptable esthetics and abnormal function of orofacial structures. Oral rehabilitation thus becomes mandatory, although it is often difficult; particularly in pediatric patients. PMID:24082749

  6. Arrhythmogenic right ventricular dysplasia: Atypical clinical presentation.

    Science.gov (United States)

    Marçalo, José; Menezes Falcão, Luiz

    2017-03-01

    A 67-year-old man was admitted to our hospital after episodes of syncope preceded by malaise and diffuse neck and chest discomfort. No family history of cardiac disease was reported. Laboratory workup was within normal limits, including D-dimers, serum troponin I and arterial blood gases. The electrocardiogram showed sinus rhythm with T-wave inversion in leads V1 to V3. Computed tomography angiography to investigate pulmonary embolism showed no abnormal findings. Transthoracic echocardiography (TTE) displayed massive enlargement of the right ventricle with intact interatrial septum and no pulmonary hypertension. Cardiac magnetic resonance imaging (MRI) confirmed right ventricular (RV) dilatation and revealed marked hypokinesia/akinesia of the lateral wall. Exercise stress testing was negative for ischemia. According to the 2010 Task Force criteria for arrhythmogenic right ventricular dysplasia (ARVD), this patient presented two major criteria (global or regional dysfunction and structural alterations: by MRI, regional RV akinesia or dyskinesia or dyssynchronous RV contraction and RV ejection fraction ≤40%, and repolarization abnormalities: inverted T waves in right precordial leads [V1, V2, and V3]); and one minor criterion (>500 ventricular extrasystoles per 24 hours by Holter), and so a diagnosis of ARVD was made. After electrophysiologic study (EPS) the patient received an implantable cardioverter-defibrillator (ICD). This late clinical presentation of ARVD highlights the importance of TTE screening, possibly complemented by MRI. The associated risk of sudden death was assessed by EPS leading to the implantation of an ICD. Genetic association studies should be offered to the offspring of all ARVD patients. Copyright © 2016 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  7. Hereditary ectodermal dysplasia: A retrospective study.

    Science.gov (United States)

    More, Chandramani B; Bhavsar, Khusbhu; Joshi, Jigar; Varma, Saurabh N; Tailor, Mansi

    2013-07-01

    Ectodermal dysplasia (ED) is a group of rare, inherited disorders characterized by sparse hair, missing teeth and inability to sweat. To review and analyze cases of ED with an emphasis on clinical manifestations and parent's marriage history. The present retrospective study was conducted by assessing the clinical records of nineteen cases of ED, available in the archives of the department; for age, gender, family history of consanguineous marriage and clinical manifestations. It was observed that ED was more prevalent in males, with a ratio of 1.7:1. The hypohydrotic type was more common (78.95%) than hydrotic type (21.05%). The marriage history of parents revealed that 66.67% had consanguineous marriage and had 68.42% offspring's affected with ED; whereas 33.33% had history of non-consanguineous marriage and had 31.58% offspring's affected with ED. The clinical manifestations observed were- dry skin(94.74%); scaly skin(42.11%); sparse hair on scalp, eyebrows and eyelashes(100%); frontal bossing(63.18%); saddle nose (57.89%); hypertelorism (47.37%); nail abnormality(52.63%); normal sweat glands(21.05%); abnormal sweat glands(78.95%); hypoplastic maxilla(52.63%); protuberant lips (57.89%); palmo-plantar keratosis(21.05%); wrinkled & hyper pigmented facial skin(84.21%); partial anodontia(94.74%); conical shaped teeth(84.21%); high arched palate(68.42%); thin alveolar bone(100.00%); taurodontism(21.05%) and cleft lip & cleft palate(05.26%). The number of teeth present in all the cases ranged from 0 to 19. ED patients suffer from social problems and poor psychological and physiological development as a result of unacceptable esthetics and abnormal function of orofacial structures. Oral rehabilitation thus becomes mandatory, although it is often difficult; particularly in pediatric patients.

  8. Hip Dysplasia: Clinical Signs and Physical Examination Findings.

    Science.gov (United States)

    Syrcle, Jason

    2017-07-01

    Hip dysplasia is a common developmental disorder of the dog, consisting of varying degrees of hip laxity, progressive remodeling of the structures of the hip, and subsequent development of osteoarthritis. It is a juvenile-onset condition, with clinical signs often first evident at 4 to 12 months of age. A tentative diagnosis of hip dysplasia can be made based on signalment, history, and physical examination findings. The Ortolani test is a valuable tool for identifying juvenile dogs affected with this condition. Further diagnostics can then be prioritized, contributing to prompt diagnosis and appropriate treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Ectodermal Dysplasia with Anodontia: A Report of Two Cases

    Science.gov (United States)

    Bani, Mehmet; Tezkirecioglu, Ali Melih; Akal, Nese; Tuzuner, Tamer

    2010-01-01

    Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/or permanent dentition. Two case reports illustrating the prosthetic rehabilitation of 2 young boys with anhidrotic ectodermal dysplasia associated with severe anodontia are presented. Since the oral rehabilitation of these cases is often difficult; particularly in pediatric patients, treatment should be administered by a multidisciplinary team involving pediatric dentistry, orthodontics, prosthodontics and oral-maxillofacial surgery. PMID:20396456

  10. Autosomal recessive anhidrotic ectodermal dysplasia: A rare entity

    Directory of Open Access Journals (Sweden)

    Sangita Ghosh

    2014-01-01

    Full Text Available We describe a case of anhidrotic ectodermal dysplasia (AED with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents. Their previous child also had a similar condition. Autosomal recessive AED (AR-AED can have its full expression both in males and females and it is clinically indistinguishable from the x-linked recessive AED (XL-AED, which is the most common type of ectodermal dysplasia. Unlike the partially symptomatic carriers of XL-AED, the heterozygotes of AR-AED are phenotypically asymptomatic.

  11. Ectodermal Dysplasia: A Clinical Overview for the Dental Practitioner.

    Science.gov (United States)

    Halai, Tina; Stevens, Claire

    2015-10-01

    The term ectodermal dysplasia (ED) is used to describe a group of rare congenital disorders characterized by abnormalities of two or more ectodermal structures such as the skin, hair, nails, teeth and sweat glands. This paper will give an overview of the aetiology of ED and describe the manifestations and dental management of this condition. In particular, the important role of the dental practitioner in the identification and management of patients with ED will be highlighted. CPD/Clinical Relevance: Dental practitioners should be aware of the oral features of ectodermal dysplasia and be able to make timely referrals and provide appropriate continuing care for these patients.

  12. Radiographic signs of acetabular dysplasia of the adult hip

    Energy Technology Data Exchange (ETDEWEB)

    Lingg, G.; von Torklus, D.

    1981-06-01

    Many papers have been published about the different types of measurements used in the evaluation of hip dysplasia in the pediatric age group. However, there are no publications that deal with this topic regarding adults. The authors present an initial series of measurements of the angle of the roof of the acetabulum in 100 randomized asymptomatic adult males. The normal value ranged from -10/sup 0/ to +10/sup 0/. These measurements were correlated with those described by Wiberg. The combination of both methods yields highly reliable information in the evaluation of hip dysplasia.

  13. Angiographic diagnosis of fibromuscular dysplasia of the renal arteries

    Energy Technology Data Exchange (ETDEWEB)

    Petkov, B.; Grigorov, G.; Nedelkov, G. (Meditsinska Akademiya, Sofia (Bulgaria). Nauchen Inst. po Rentgenologiya i Radiobiologiya)

    1982-01-01

    In the nosological structure of renovascular hypertensions fibromuscular dysplasia of the renal arteries by incidence ranks second after atherosclerosis. The illness affects mainly women, more frequently young and having borne a child. Hypertension in such patients is usually characterized by high values of the diastolic pressure, and leads to early neurologic complaints such as headache, sight impairment, vertigo and Meniere-like syndromes. Morphological and functional changes are likewise described. Some of the literature statements concerning the etiopathogenesis and classification of fibromuscular dysplasia are critically assayed. The success of the surgical management depends on the timely established exact diagnosis, and angiography appears to be the only method of primary importance in this respect.

  14. A case of Mondini dysplasia with recurrent Streptococcus pneumoniae meningitis.

    Science.gov (United States)

    Yilmaz Ciftdoğan, Dilek; Bayram, Nuri; Ozdemir, Yasemin; Bayraktaroğlu, Selen; Vardar, Fadil

    2009-12-01

    Mondini's dysplasia is a developmental anomaly of the middle ear characterized by cochlear malformation with dilation of the vestibular aquaduct, vestibule, and ampullar ends of the semicircular canals. These deformities may result in a connection between subarachnoid space and the middle ear resulting in recurrent episodes of meningitis. Additionally, it is commonly associated with hearing impairment. We describe here a boy with recurrent meningitis and unilateral sensorineural hearing loss. Mondini dysplasia was demonstrated with computed tomographic scans of the temporal bones in the search for pathogenesis of recurrent meningitis.

  15. CT features of fibrous dysplasia of the temporal bone

    International Nuclear Information System (INIS)

    Charrada-Ben Farhat, L.; Bourkhis, S.; Ben Yaacoub, I.; Dali, N.; Askri, A.; Hendaoui, L.

    2006-01-01

    Fibrous dysplasia is characterized by a progressive replacement of normal bone elements by fibrous tissue. The temporal bone is rarely involved. In this location, complications such as facial deformity, conductive hearing loss and facial peripheral neural involvement can occur. Positive diagnosis can be established with computerized tomography which also enables assessment of extension and detection of complications. We report a case of a 27-year-old man with extensive fibrous dysplasia of the right temporal bone presenting with conductive hearing loss secondary to progressive stenosis of the external auditory canal. Computerized tomography of the temporal region was performed. (authors)

  16. Dental Management of Ectodermal Dysplasia: Two Clinical Case Reports

    Directory of Open Access Journals (Sweden)

    Somayeh Hekmatfar

    2012-06-01

    Full Text Available Ectodermal dysplasia is a hereditary disorder associated with abnormal development of embryonic ectodermally-derived organs including teeth, nails, hair and sweat glands. Hypodontia of the primary and permanent dentition is the most common oral finding. Therefore, affected patients need dental prosthetic treatments during their developmental years. This report presents two cases of children affected by ectodermal dysplasia with anodontia. Oral rehabilitation was accomplished with removable acrylic prostheses. Treatment had major impacts on self-esteem, masticatory function, speech and facial esthetic.

  17. Vaccination elicits a prominent acute phase response in horses.

    Science.gov (United States)

    Andersen, Susanne A; Petersen, Henrik H; Ersbøll, Annette K; Falk-Rønne, Jørgen; Jacobsen, Stine

    2012-02-01

    European and American guidelines for vaccination against tetanus and influenza in horses recommend annual and annual/semi-annual vaccinations, respectively, against the two pathogens. Too-frequent vaccination may, however, have adverse effects, among other things because an inflammatory response is elicited with subsequent alterations in homeostasis. The objective of the study was to compare the acute phase response (APR) in 10 horses following administration of two different types of vaccines, namely, an inactivated Immune Stimulating COMplex (ISCOM) vaccine and a live recombinant vector vaccine. Blood was sampled before and after vaccination to measure levels of serum amyloid A (SAA), fibrinogen, white blood cell counts (WBC) and iron. Vaccination induced a prominent APR with increased WBC, elevated blood levels of SAA and fibrinogen, and decreased serum iron concentrations. The ISCOM vaccine caused significantly (Phorse owners about convalescence after vaccination. Copyright © 2011 Elsevier Ltd. All rights reserved.

  18. Clinical Mass Spectrometry: Achieving Prominence in Laboratory Medicine

    Energy Technology Data Exchange (ETDEWEB)

    Annesley, Thomas M.; Cooks, Robert G.; Herold, David A.; Hoofnagle, Andrew N.

    2016-01-04

    Each year the journal Clinical Chemistry publishes a January special issue on a topic that is relevant to the laboratory medicine community. In January 2016 the topic is mass spectrometry, and the issue is entitled “Clinical Mass Spectrometry: Achieving Prominence in Laboratory Medicine”. One popular feature in our issues is a Q&A on a topic, clearly in this case mass spectrometry. The journal is assembling a panel of 5-6 experts from various areas of mass spectrometry ranging from instrument manufacturing to practicing clinical chemists. Dick Smith is one of the scientist requested to participate in this special issue Q&A on Mass Spectrometry. The Q&A Transcript is attached

  19. Old World frog and bird vocalizations contain prominent ultrasonic harmonics

    Science.gov (United States)

    Narins, Peter M.; Feng, Albert S.; Lin, Wenyu; Schnitzler, Hans-Ulrich; Denzinger, Annette; Suthers, Roderick A.; Xu, Chunhe

    2004-02-01

    Several groups of mammals such as bats, dolphins and whales are known to produce ultrasonic signals which are used for navigation and hunting by means of echolocation, as well as for communication. In contrast, frogs and birds produce sounds during night- and day-time hours that are audible to humans; their sounds are so pervasive that together with those of insects, they are considered the primary sounds of nature. Here we show that an Old World frog (Amolops tormotus) and an oscine songbird (Abroscopus albogularis) living near noisy streams reliably produce acoustic signals that contain prominent ultrasonic harmonics. Our findings provide the first evidence that anurans and passerines are capable of generating tonal ultrasonic call components and should stimulate the quest for additional ultrasonic species.

  20. Three-Dimensional Morphology of a Coronal Prominence Cavity

    Science.gov (United States)

    Gibson, S. E.; Kucera, T. A.; Rastawicki, D.; Dove, J.; deToma, G.; Hao, J.; Hill, S.; Hudson, H. S.; Marque, C.; McIntosh, P. S.; hide

    2010-01-01

    We present a three-dimensional density model of coronal prominence cavities, and a morphological fit that has been tightly constrained by a uniquely well-observed cavity. Observations were obtained as part of an International Heliophysical Year campaign by instruments from a variety of space- and ground-based observatories, spanning wavelengths from radio to soft-X-ray to integrated white light. From these data it is clear that the prominence cavity is the limb manifestation of a longitudinally-extended polar-crown filament channel, and that the cavity is a region of low density relative to the surrounding corona. As a first step towards quantifying density and temperature from campaign spectroscopic data, we establish the three-dimensional morphology of the cavity. This is critical for taking line-of-sight projection effects into account, since cavities are not localized in the plane of the sky and the corona is optically thin. We have augmented a global coronal streamer model to include a tunnel-like cavity with elliptical cross-section and a Gaussian variation of height along the tunnel length. We have developed a semi-automated routine that fits ellipses to cross-sections of the cavity as it rotates past the solar limb, and have applied it to Extreme Ultraviolet Imager (EUVI) observations from the two Solar Terrestrial Relations Observatory (STEREO) spacecraft. This defines the morphological parameters of our model, from which we reproduce forward-modeled cavity observables. We find that cavity morphology and orientation, in combination with the viewpoints of the observing spacecraft, explains the observed variation in cavity visibility for the east vs. west limbs

  1. Clinico-Epidemiological Comparison of Delusion-Prominent and Hallucination-Prominent Clinical Subgroups of Paranoid Schizophrenia.

    Science.gov (United States)

    Kreinin, Anatoly; Krishtul, Vladimir; Kirsh, Zvi; Menuchin, Michael

    2015-01-01

    Though hallucinations and delusions are prominent basic impairments in schizophrenia, reports of the relationship between hallucinatory and delusional symptoms among schizophrenia patients are scant. To examine the epidemiological and clinical differences between mainly hallucinatory and mainly delusional subgroups of paranoid schizophrenia patients. One hundred schizophrenia patients, paranoid type, were recruited. In a cross-sectional study, participants were divided into Mainly Hallucinatory (H) and Mainly Delusional (D) subgroups. Demographic variables were compared and clinical characteristics were evaluated using the Scale for the Assessment of Positive Symptoms, the Scale for the Assessment of Negative Symptoms, and the Clinical Global Impression Scale. The Quality-of-Life Enjoyment and Satisfaction Questionnaire-18 was used to assess quality of life. Clinically, the H group was more heterogeneous as expressed by the broader range of scores that described the clinical picture of patients in that subgroup (in 43 of 78 variables, 55.13%) and similar ranges of scores (31 of 78 variables, 39.74%) for patients in the D group. Duration of hospitalization was significantly longer in group H than in group D (p=0.047). There was no statistically significant difference between the H and D subgroups in demographic characteristics. There are distinct epidemiological and clinical differences between the H and D subgroups, with more severe positive and negative symptoms and greater functional impairment in the H group. Paranoid schizophrenia patients with prominent hallucinations have poorer prognosis and need intensive therapeutic rehabilitation beginning with onset-of-illness. Further genetic studies and comparisons of fMRI and/or PET findings are warranted to investigate additional distinctive characteristics of these subgroups.

  2. Role of arthrography in the management of dysplasia epiphysealis hemimelica

    Energy Technology Data Exchange (ETDEWEB)

    Ho, A.M.W.; Blane, C.E.; Kling, T.F. Jr.

    1986-03-01

    Dysplasia epiphysealis hemimelica can be diagnosed on plain radiographs of the affected areas. However, double contrast arthrography in three new cases provided additional information. The cartilaginous portions of the lesion at the articular surface of the bone were precisely demonstrated, aiding the orthopedic surgeon in deciding which patients should have surgery and planning the extent of operation necessary.

  3. Use of Zoledronic Acid in Paediatric Craniofacial Fibrous Dysplasia

    Directory of Open Access Journals (Sweden)

    Chiara Di Pede

    2016-01-01

    Full Text Available We describe a case of a paediatric patient affected by mandibular fibrous dysplasia (FD with severe and chronic pain who was successfully treated with zoledronic acid (ZOL: a third-generation bisphosphonate. Further research is needed to assess its safety and efficacy as a treatment option for FD in the paediatric population.

  4. Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

    Science.gov (United States)

    Izumi, Kosuke; Lippa, Andrew M; Wilkens, Alisha; Feret, Holly A; McDonald-McGinn, Donna M; Zackai, Elaine H

    2013-12-01

    Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including craniofacial, ocular, dental, and limb anomalies. Although recent findings implicate the major role of GJA1 during cardiac organogenesis, congenital heart defects are infrequently reported in oculodentodigital dysplasia. Here we report on two patients with GJA1 mutations presenting with cardiac malformations and type III syndactyly. Patient 1 presented with pulmonary atresia, an intact septum, right ventricular hypoplasia and tricuspid stenosis. The infant had a small nose, thin columella and bilateral 4-5 syndactyly of the fingers. A de novo c.226C>T (p.Arg76Cys) mutation was identified. Patient 2 presented at 6 months with a ventricular septal defect. The child had hypoplastic alae nasi with a thin columella and bilateral 4-5 syndactyly of the digits. A de novo missense mutation, c.145C>G (p.Gln49Glu) was found. Our two patients underscore the importance of cardiac evaluations as part of the initial workup for patients with findings of oculodentodigital dysplasia. Conversely, those patients with type III syndactyly and congenital heart defect should be screened for GJA1 mutations. © 2013 Wiley Periodicals, Inc.

  5. Multidisciplinary management of hypohydrotic ectodermal dysplasia – a case report

    Science.gov (United States)

    Joseph, Suja; Cherackal, George J; Jacob, Jose; Varghese, Alex K

    2015-01-01

    Key Clinical Message Hypohydrotic ectodermal dysplasia is a hereditary disorder, which affects ectodermal derivatives. It manifests several abnormalities of the teeth, and is commonly inherited through female carriers. This case report presents a patient with compromised esthetics and function. A multidisciplinary approach was planned involving an oral pathologist, endodontist, orthodontist and a prosthodontist. PMID:25984305

  6. Pathophysiology, diagnosis, and treatment of canine hip dysplasia

    International Nuclear Information System (INIS)

    Cook, J.L.; Tomlinson, J.L.; Constantinescu, G.M.

    1996-01-01

    Dogs with hip dysplasia are commonly presented to veterinarians for evaluation. Although many causes of the condition have been proposed, a definitive cause has not been established. The multifactorial nature of canine hip dysplasia can confuse client education and management ofthe disease. The basic concept involved is the biomechanical imbalance between the forces on the coxofemoral joint and the associated muscle mass; the result is joint laxity in young, growing dogs. This laxity leads to incongruity; the eventual result is degenerative joint disease. Canine hip dysplasia can affect any breed but is most often reported in large and giant breeds. Understanding the pathophysiology and biomechanics involved with this developmental disease is important in providing clients with diagnostic, therapeutic, and prognostic information. The selection of treatment is influenced by the following factors:the age, health, and intended use of the patient; clinical signs; diagnostic findings; the availability of treatment; and the financial constraints of the owner. This article discusses the current concepts concerning the pathophysiology and biomechanics of canine hip dysplasia and outlines diagnostic and therapeutic options. The objective of the article is to provide practitioners with a reference for decision making and client education

  7. Total hip reconstruction in acetabular dysplasia : a finite element study

    NARCIS (Netherlands)

    Schüller, H.M.; Dalstra, M.; Huiskes, H.W.J.; Marti, R.K.

    1993-01-01

    In acetabular dysplasia, fixation of the acetabular component of a cemented total hip prosthesis may be insecure and superolateral bone grafts are often used to augment the acetabular roof. We used finite element analysis to study the mechanical importance of the lateral acetabular roof and found

  8. Dentin dysplasia type I : Five cases within one family

    NARCIS (Netherlands)

    Kalk, WWI; Batenburg, RHK; Vissink, A

    Five cases of dentin dysplasia type I within one family are described. Clinically and radiologically, such patients are characterized by a delayed eruption pattern, opacity of the incisional margins, hypermobility of the teeth, short and defective roots, and obliterated pulp chambers. A conservative

  9. Tricuspid valve dysplasia: A retrospective study of clinical features ...

    African Journals Online (AJOL)

    Dogs were most frequently referred for investigation of heart murmur. The most common arrhythmia was atrial fibrillation (n=3). Median survival time from diagnosis of tricuspid valve dysplasia was 2775 days (range 1-3696 days; 95% CI 1542.41-4007.59) and from onset of right-sided congestive heart failure was 181 days ...

  10. Autosomal dominant frontometaphyseal dysplasia : Delineation of the clinical phenotype

    NARCIS (Netherlands)

    Wade, Emma M.; Jenkins, Zandra A.; Daniel, Philip B.; Morgan, Tim; Addor, Marie C.; Ades, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; de Geus, Christa M.; Duba, Hans-Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C. M.; Kim, Chong A.; Krakow, Deborah; Morava, Eva; Neuhann, Teresa; Sillence, David; Superti-Furga, Andrea; Veenstra-Knol, Hermine E.; Wieczorek, Dagmar; Wilson, Louise C.; Markie, David M.; Robertson, Stephen P.

    Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who

  11. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

    NARCIS (Netherlands)

    Wade, Emma M.; Jenkins, Zandra A.; Daniel, Philip B.; Morgan, Tim; Addor, Marie C.; Adés, Lesley C.; Bertola, Debora; Bohring, Axel; Carter, Erin; Cho, Tae-Joon; de Geus, Christa M.; Duba, Hans-Christoph; Fletcher, Elaine; Hadzsiev, Kinga; Hennekam, Raoul C. M.; Kim, Chong A.; Krakow, Deborah; Morava, Eva; Neuhann, Teresa; Sillence, David; Superti-Furga, Andrea; Veenstra-Knol, Hermine E.; Wieczorek, Dagmar; Wilson, Louise C.; Markie, David M.; Robertson, Stephen P.

    2017-01-01

    Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who

  12. Prenatal 3D Ultrasound Diagnostics in Cleidocranial Dysplasia

    DEFF Research Database (Denmark)

    Hermann, NV; Hove, HD; Jørgensen, C

    2009-01-01

    A 34-year-old Caucasian woman with cleidocranial dysplasia (CCD) and a known family history of CCD was referred for an ultrasound examination in the first trimester of her second pregnancy. Molecular genetic analysis of the RUNX2 gene was non-informative. A routine 2D ultrasound examination carried...

  13. Caudal regression with sirenomelia and dysplasia renofacialis (Potter's syndrome)

    International Nuclear Information System (INIS)

    Noeldge, G.; Billmann, P.; Boehm, N.; Freiburg Univ.

    1982-01-01

    A case of caudal regression in combination with sirenomelia and dysplasia renofacialis (Potter's syndrome) is reported. The formal pathogenesis of these malformations and clinical facts are shown and discussed. Findings of plain films, postmortal angiography and pathologic-anatomical changes are demonstrated. (orig.) [de

  14. Focal fibrocartilaginous dysplasia and tibia vara: a case report

    International Nuclear Information System (INIS)

    Cockshott, W.P.; Martin, R.; Friedman, L.; Yuen, M.

    1994-01-01

    A 2-year-old black boy with focal fibrocartilaginous dysplasia is described with illustrations of the typical radiographic appearances supplemented by computed tomographic and magnetic resonance images. Since this rare condition is self-correcting, diagnosis is important so that surgical intervention and biopsy can be avoided and conservative management instituted. (orig.)

  15. Focal fibrocartilaginous dysplasia and tibia vara: a case report.

    Science.gov (United States)

    Cockshott, W P; Martin, R; Friedman, L; Yuen, M

    1994-07-01

    A 2-year-old black boy with focal fibrocartilaginous dysplasia is described with illustrations of the typical radiographic appearances supplemented by computed tomographic and magnetic resonance images. Since this rare condition is self-correcting, diagnosis is important so that surgical intervention and biopsy can be avoided and conservative management instituted.

  16. Focal fibrocartilaginous dysplasia and tibia vara: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Cockshott, W.P. (Dept. of Radiology, McMaster Univ. Medical Centre, Hamilton, ON (Canada)); Martin, R. (Dept. of Orthopedics, McMaster Univ. Medical Centre, Hamilton, ON (Canada)); Friedman, L. (Dept. of Radiology, McMaster Univ. Medical Centre, Hamilton, ON (Canada)); Yuen, M. (Dept. of Radiology, McMaster Univ. Medical Centre, Hamilton, ON (Canada))

    1994-07-01

    A 2-year-old black boy with focal fibrocartilaginous dysplasia is described with illustrations of the typical radiographic appearances supplemented by computed tomographic and magnetic resonance images. Since this rare condition is self-correcting, diagnosis is important so that surgical intervention and biopsy can be avoided and conservative management instituted. (orig.)

  17. Craniofacial and temporal bone CT findings in cleidocranial dysplasia

    International Nuclear Information System (INIS)

    Gonzalez, Guido E.; Caruso, Paul A.; Curtin, Hugh D.; Small, Juan E.; Jyung, Robert W.; Troulis, Maria J.

    2008-01-01

    Cleidocranial dysplasia (CCD) is a multistructural polyostotic genetic disorder that results from mutation of the CBFA1 gene. Hearing loss is a frequent finding in CCD. We describe the CT craniofacial findings in CCD and provide a comprehensive discussion of the CT temporal bone findings in these patients. (orig.)

  18. Placental mesenchymal dysplasia: case report with gross and histological findings.

    Science.gov (United States)

    Toscano, Marcello Pecoraro; Schultz, Regina

    2014-01-01

    Placental mesenchymal dysplasia (PMD) is a rare placental disorder characterized by placental enlargement and areas of abnormal, enlarged, grape-like villi. This condition may resemble a partial hydatidiform mole and may occur associated with Beckwith-Wiedemann syndrome (BWS) or in phenotypically normal fetuses. There were 110 cases reported so far. We describe one case with typical gross and microscopic placental lesions.

  19. Placental mesenchymal dysplasia: case report with gross and histological findings

    OpenAIRE

    Marcello Pecoraro Toscano; Regina Schultz

    2014-01-01

    Placental mesenchymal dysplasia (PMD) is a rare placental disorder characterized by placental enlargement and areas of abnormal, enlarged, grape-like villi. This condition may resemble a partial hydatidiform mole and may occur associated with Beckwith?Wiedemann syndrome (BWS) or in phenotypically normal fetuses. There were 110 cases reported so far. We describe one case with typical gross and microscopic placental lesions.

  20. Gonadal dosage during hip dysplasia radiography in the dog.

    Science.gov (United States)

    Wood, A K; Reynolds, K M; Leith, I S; Burns, P A

    1977-01-01

    Thermoluminescent dosemeters were used to estimate gonadal dosage during hip dysplasia radiography of labrador retriever dogs. The mean radiation dose to the unshielded testes was 100 millirad (mrad) and the estimated dose to the shielded testes was 9 mrad. It was considered unnecessary to shield the ovaries.

  1. Multiple Epiphyseal Dysplasia: A Clinical and Molecular Genetic Study

    NARCIS (Netherlands)

    J.B.A. van Mourik (Jan)

    1998-01-01

    textabstractMultiple epiphyseal dysplasia (MED) is one of the most common osteochondrodysplasias [Wynne-Davies and Gormley 1985]. During childhood and adolescence it affects the epiphyses of the tubular bones, resulting in axial deformities and shorter limbs.·Later in life MED can lead to

  2. Endoscopic Therapeutic Approach for Dysplasia in Inflammatory Bowel Disease

    Directory of Open Access Journals (Sweden)

    Sung Noh Hong

    2017-09-01

    Full Text Available Long-standing intestinal inflammation in patients with inflammatory bowel disease (IBD induces dysplastic change in the intestinal mucosa and increases the risk of subsequent colorectal cancer. The evolving endoscopic techniques and technologies, including dye spraying methods and high-definition images, have been replacing random biopsies and have been revealed as more practical and efficient for detection of dysplasia in IBD patients. In addition, they have potential usefulness in detailed characterization of lesions and in the assessment of endoscopic resectability. Most dysplastic lesions without an unclear margin, definite ulceration, non-lifting sign, and high index of malignant change with suspicion for lymph node or distant metastases can be removed endoscopically. However, endoscopic resection of dysplasia in chronic IBD patients is usually difficult because it is often complicated by submucosal fibrosis. In patients with dysplasias that demonstrate submucosa fibrosis or a large size (≥20 mm, endoscopic submucosal dissection (ESD or ESD with snaring (simplified or hybrid ESD is an alternative option and may avoid a colectomy. However, a standardized endoscopic therapeutic approach for dysplasia in IBD has not been established yet, and dedicated specialized endoscopists with interest in IBD are needed to fully investigate recent emerging techniques and technologies.

  3. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

    NARCIS (Netherlands)

    Szafranski, P.; Gambin, T.; Dharmadhikari, A.V.; Akdemir, K.C.; Jhangiani, S.N.; Schuette, J.; Godiwala, N.; Yatsenko, S.A.; Sebastian, J.; Madan-Khetarpal, S.; Surti, U.; Abellar, R.G.; Bateman, D.A.; Wilson, A.L.; Markham, M.H.; Slamon, J.; Santos-Simarro, F.; Palomares, M.; Nevado, J.; Lapunzina, P.; Chung, B.H.; Wong, W.L.; Chu, Y.W.; Mok, G.T.; Kerem, E.; Reiter, J.; Ambalavanan, N.; Anderson, S.A.; Kelly, D.R.; Shieh, J.; Rosenthal, T.C.; Scheible, K.; Steiner, L.; Iqbal, M.A.; McKinnon, M.L.; Hamilton, S.J.; Schlade-Bartusiak, K.; English, D.; Hendson, G.; Roeder, E.R.; DeNapoli, T.S.; Littlejohn, R.O.; Wolff, D.J.; Wagner, C.L.; Yeung, A.; Francis, D.; Fiorino, E.K.; Edelman, M.; Fox, J.; Hayes, D.A.; Janssens, S.; Baere, E. De; Menten, B.; Loccufier, A.; Vanwalleghem, L.; Moerman, P.; Sznajer, Y.; Lay, A.S.; Kussmann, J.L.; Chawla, J.; Payton, D.J.; Phillips, G.E.; Brosens, E.; Tibboel, D.; Klein, A.; Maystadt, I.; Fisher, R.; Sebire, N.; Male, A.; Chopra, M.; Pinner, J.; Malcolm, G.; Peters, G.; Arbuckle, S.; Lees, M.; Mead, Z.; Quarrell, O.; Sayers, R.; Owens, M.; Shaw-Smith, C.; Lioy, J.; McKay, E.; Leeuw, N. de; Feenstra, I.; Spruijt, L.; Elmslie, F.; Thiruchelvam, T.; Bacino, C.A.; Langston, C.; Lupski, J.R.; Sen, P.; Popek, E.; Stankiewicz, P.

    2016-01-01

    Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes

  4. Corrections of lower limb deformities in patients with diastrophic dysplasia.

    Science.gov (United States)

    Al Kaissi, Ali; Kenis, Vladimir; Melchenko, Eugeniy; Chehida, Farid Ben; Ganger, Rudolf; Klaushofer, Klaus; Grill, Franz

    2014-11-01

    Accurate understanding of the cause of the underlying pathology in children with diastrophic dysplasia would help in designing targeted management of their locomotion. Diastrophic dysplasia was diagnosed in twelve patients (nine girls and three boys; age range 1-14 years), all of whom presented with small stature and apparent short extremities. Club foot (mostly talipes equinovarus) was the most frequent and consistent abnormality. Concomitant abnormalities such as hip flexion contracture, flexion contractures of the knees with excessive valgus deformity and lateral patellar subluxation, were also encountered. Muscle ultrasound and muscle magnetic resonance imaging imaging showed no myopathic changes and muscle biopsies and the respiratory chain were normal. Serum choline kinase and plasma lactate concentrations were normal. Surgical correction of the foot and ankle in patients with diastrophic dysplasia is extremely difficult because of the markedly distorted anatomy. In all of these children, plantigrade foot was achieved along with the improved function of the locomotor system. Mutations of the diastrophic dysplasia sulfate transporter (also known as solute carrier family 26 member 2) were encountered. Arthrogryposis multiplex is the usual terminology used to describe the abnormality in infants with multiple contractures. Diligent orthopaedic care should be provided based on an accurate understanding of the associated syndromes in such children. © 2014 Chinese Orthopaedic Association and Wiley Publishing Asia Pty Ltd.

  5. Avascular necrosis of the hip in multiple epiphyseal dysplasia

    International Nuclear Information System (INIS)

    Mackenzie, W.G.; Bassett, G.S.; Mandell, G.A.; Scott, C.I. Jr.

    1989-01-01

    We observed radiographic changes of avascular necrosis (AVN) of the capital femoral epiphysis in 9 hips of 11 patients with multiple epiphyseal dysplasia (MED). Plain roentgenography, bone scintigraphy, and magnetic resonance imaging (MRI) studies all revealed characteristic asymmetric changes in the presence of AVN superimposed on dysplastic femoral heads

  6. Canine hip dysplasia: significance of early bony spurring

    International Nuclear Information System (INIS)

    Morgan, J.P.

    1987-01-01

    It is the purpose of this study to call attention to new bone production that often occurs early in the sequence of pathological changes associated with canine hip dysplasia. New bone production extending to bony remodeling, as well as femoral head subluxation, both occur in the sequence of pathologic changes associated with canine hip dysplasia. Subluxation is considered primary, while osteoarthrosis is a secondary feature, and both are used in the diagnosis of canine hip dysplasia. This report concerns the significance of the presence of a solitary bony osteophyte, or spur, that is frequently evident on the caudal aspect of the femoral neck as viewed on the conventional ventrodorsal projection. This report utilizes findings from pelvic radiographs of 605 dogs (five breeds). There was a greater frequency (54%)of this bony change in cases diagnosed radiographically as dysplastic than in cases diagnosed as normal(15%).Thus, it is suggested that this minimal radiographic change can be used as an indicator of early canine hip dysplasia, especially in the absence of subluxation of the femoral head

  7. Concomitant occurrence of cochleosaccular dysplasia and Down's syndrome.

    Science.gov (United States)

    Walby, A P; Schuknecht, H F

    1984-07-01

    Inherited cochleosaccular dysplasia occurred in a woman coincidentally with Down's syndrome. Study of the right temporal bone revealed abnormalities of the cochlea and saccule consistent with Scheibe 's original description. There was also a short cochlea and small lateral semicircular canal consistent with previous descriptions of Down's syndrome.

  8. Bronchopulmonary Dysplasia and Ureaplasma : What Do We Know So Far?

    NARCIS (Netherlands)

    De La Haye, Nicole; Hütten, Matthias C.; Kunzmann, Steffen; Kramer, Boris W.

    2017-01-01

    Bronchopulmonary dysplasia (BPD) is the most common morbidity of prematurity. BPD is a chronic respiratory disease related to lung-injury during the primary course of critical lung disease such as respiratory distress syndrome or when abnormal development of the preterm lung occurs. Abnormal lung

  9. Radiologic comparison of erosive polyarthritis with prominent interphalangeal involvement

    International Nuclear Information System (INIS)

    Gold, R.H.; Bassett, L.W.; Theros, E.G.

    1982-01-01

    Psoriatic arthritis, Reiter's disease, and multicentric reticulohistiocytosis may manifest prominent interphalangeal joint and cutaneous involvement. All three disorders may also affect the sacroiliac joints and spine. Despite these similarities, there are basic radiologic differences enabling distinction between the three disorders. Erosive osteoarthritis must also be considered in the differential diagnosis of interphalangeal erosive arthritis. Psoriatic erosions are characteristically ill defined, often bilaterally asymmetrical, usually unaccompanied by significant osteoporosis, and frequently associated with florid proliferation of subperiosteal new bone. An unilateral polyarticular pattern, which often occurs in a single ray, is the most prevalent of several patterns of involvement. Reiter's disease exhibits many clinical and radiologic similarities to psoriatic arthritis, but in the former there tends to be selective involvement of the joints of the lower limbs and particularly the feet, with relative sparing of the hands and wrists, while in the latter the joints of the upper and lower limbs tend to be involved to an equal extent. Multicentric reticulohistiocytosis (MR). Lesions predominate in skin and synovium and result in sharply circumscribed, rapidly progressive, strikingly bilaterally symmetrical erosions spreading from joint margins to articular surfaces. Most or all of the diarthrodial joints may be affected, but interphalangeal joint predominance and early and severe atlanto-axial involvement are characteristic. Erosive osteoarthritis is characterized by interphalangeal subchondral erosions, accompanying periosteal new bone that is more subtle than that of psoriatic arthritis, and interphalangeal bony ankylosis that occurs with the same frequency as that of psoriatic arthritis. (orig.)

  10. Quantifying the cepstral peak prominence, a measure of dysphonia.

    Science.gov (United States)

    Heman-Ackah, Yolanda D; Sataloff, Robert T; Laureyns, Griet; Lurie, Deborah; Michael, Deirdre D; Heuer, Reinhardt; Rubin, Adam; Eller, Robert; Chandran, Swapna; Abaza, Mona; Lyons, Karen; Divi, Venu; Lott, Joanna; Johnson, Jennifer; Hillenbrand, James

    2014-11-01

    The purpose of this study is to establish normative values for the smoothed cepstral peak prominence (CPPS) and its sensitivity and specificity as a measure of dysphonia. Prospective cohort study. Voice samples of running speech were obtained from 835 patients and 50 volunteers. Eight laryngologists and four speech-language pathologists performed perceptual ratings of the voice samples on the degree of dysphonia/normality using an analog scale. The mean of their perceptual ratings was used as the gold standard for the detection of the presence or absence of dysphonia. CPPS was measured using the CPPS algorithm of Hillenbrand, and the cut-off value for positivity that has the highest sensitivity and specificity for discriminating between normal and severely dysphonia voices was determined based on ROC-curve analysis. The cut-off value for normal for CPPS was set at 4.0 or higher, which gave a sensitivity of 92.4%, a specificity of 79%, a positive predictive value of 82.5%, and a negative predictive value of 90.8%. The area under the receiver operating characteristic (ROC) curve was 0.937 (P dysphonia, with the normal value of CPPS (Hillenbrand algorithm) of a running speech sample being defined as a value of 4.0 or higher. Copyright © 2014 The Voice Foundation. All rights reserved.

  11. Porcine CD38 exhibits prominent secondary NAD(+) cyclase activity.

    Science.gov (United States)

    Ting, Kai Yiu; Leung, Christina F P; Graeff, Richard M; Lee, Hon Cheung; Hao, Quan; Kotaka, Masayo

    2016-03-01

    Cyclic ADP-ribose (cADPR) mobilizes intracellular Ca(2+) stores and activates Ca(2+) influx to regulate a wide range of physiological processes. It is one of the products produced from the catalysis of NAD(+) by the multifunctional CD38/ADP-ribosyl cyclase superfamily. After elimination of the nicotinamide ring by the enzyme, the reaction intermediate of NAD(+) can either be hydrolyzed to form linear ADPR or cyclized to form cADPR. We have previously shown that human CD38 exhibits a higher preference towards the hydrolysis of NAD(+) to form linear ADPR while Aplysia ADP-ribosyl cyclase prefers cyclizing NAD(+) to form cADPR. In this study, we characterized the enzymatic properties of porcine CD38 and revealed that it has a prominent secondary NAD(+) cyclase activity producing cADPR. We also determined the X-ray crystallographic structures of porcine CD38 and were able to observe conformational flexibility at the base of the active site of the enzyme which allow the NAD(+) reaction intermediate to adopt conformations resulting in both hydrolysis and cyclization forming linear ADPR and cADPR respectively. © 2016 The Protein Society.

  12. Prominent feature extraction for review analysis: an empirical study

    Science.gov (United States)

    Agarwal, Basant; Mittal, Namita

    2016-05-01

    Sentiment analysis (SA) research has increased tremendously in recent times. SA aims to determine the sentiment orientation of a given text into positive or negative polarity. Motivation for SA research is the need for the industry to know the opinion of the users about their product from online portals, blogs, discussion boards and reviews and so on. Efficient features need to be extracted for machine-learning algorithm for better sentiment classification. In this paper, initially various features are extracted such as unigrams, bi-grams and dependency features from the text. In addition, new bi-tagged features are also extracted that conform to predefined part-of-speech patterns. Furthermore, various composite features are created using these features. Information gain (IG) and minimum redundancy maximum relevancy (mRMR) feature selection methods are used to eliminate the noisy and irrelevant features from the feature vector. Finally, machine-learning algorithms are used for classifying the review document into positive or negative class. Effects of different categories of features are investigated on four standard data-sets, namely, movie review and product (book, DVD and electronics) review data-sets. Experimental results show that composite features created from prominent features of unigram and bi-tagged features perform better than other features for sentiment classification. mRMR is a better feature selection method as compared with IG for sentiment classification. Boolean Multinomial Naïve Bayes) algorithm performs better than support vector machine classifier for SA in terms of accuracy and execution time.

  13. Combined surgical management of mandibular angle prominence and microgenia

    International Nuclear Information System (INIS)

    Portelles Masso, Ayelen Maria; Berger Kohn, Carlos

    2010-01-01

    Chin play a very important role in facial aesthetics. Different deformities of volume and of position may occur at this level and it is the microgenia one of the more frequent. Treatment options include the use of silicone, alloplasty materials and autologous bone graft. Authors report the use of the bone removed from mandibular angle to increase the chin. This is the case of a white female patient aged 18 seen by the Orthognathics Multidisciplinary Staff of 'V. I. Lenin' Hospital due to its uncommon face width. The corresponding physical examination as well as the complementary ones diagnosed a bilateral prominence of mandibular angle associated with a microgenia. Surgery carried out was of remodeling type of both mandibular angles and genioplasty of height increase and a discrete advancement using the bone removed from the gonion. There were satisfactory aesthetic results without evidence of bone reabsorption. We conclude that use of autologous graft of mandibular angle is an effective treatment alternative for correction of microgenia. (author)

  14. The coordination of boundary tones and its interaction with prominence.

    Science.gov (United States)

    Katsika, Argyro; Krivokapić, Jelena; Mooshammer, Christine; Tiede, Mark; Goldstein, Louis

    2014-05-01

    This study investigates the coordination of boundary tones as a function of stress and pitch accent. Boundary tone coordination has not been experimentally investigated previously, and the effect of prominence on this coordination, and whether it is lexical (stress-driven) or phrasal (pitch accent-driven) in nature is unclear. We assess these issues using a variety of syntactic constructions to elicit different boundary tones in an Electromagnetic Articulography (EMA) study of Greek. The results indicate that the onset of boundary tones co-occurs with the articulatory target of the final vowel. This timing is further modified by stress, but not by pitch accent: boundary tones are initiated earlier in words with non-final stress than in words with final stress regardless of accentual status. Visual data inspection reveals that phrase-final words are followed by acoustic pauses during which specific articulatory postures occur. Additional analyses show that these postures reach their achievement point at a stable temporal distance from boundary tone onsets regardless of stress position. Based on these results and parallel findings on boundary lengthening reported elsewhere, a novel approach to prosody is proposed within the context of Articulatory Phonology: rather than seeing prosodic (lexical and phrasal) events as independent entities, a set of coordination relations between them is suggested. The implications of this account for prosodic architecture are discussed.

  15. Prominent Determinants of Consumer-Based Brand Equity

    Directory of Open Access Journals (Sweden)

    Elisa Battistoni

    2013-08-01

    Full Text Available In this paper we investigate the most prominent drivers of brand equity, from a consumerbased point of view. We present a new approach for measuring brand equity, which can be applied regardless of the brand sector and is based on the Analytic Hierarchy Process. This approach has the main advantage of allowing for comparisons to be made between non‐directly measurable elements and also has the advantage of enabling the ranking of intangible criteria, such as consumers’ feelings or purchase intentions. We focus on the fashion industry, since we believe in the higher value of our approach when applied to brands which offer products with less tangible characteristics. Thanks to a case study – which involved about 250 interviewees – we succeed in finding and prioritizing the elements which can have an impact on the brand value. We also provide a global ranking for three apparel brands: Gap, H&M and Zara. The results from our model are consistent with other popular ratings and can be extremely useful for brand managers.

  16. Piecewise mass flows within a solar prominence observed by the New Vacuum Solar Telescope

    Science.gov (United States)

    Li, Hongbo; Liu, Yu; Tam, Kuan Vai; Zhao, Mingyu; Zhang, Xuefei

    2018-06-01

    The material of solar prominences is often observed in a state of flowing. These mass flows (MF) are important and useful for us to understand the internal structure and dynamics of prominences. In this paper, we present a high resolution Hα observation of MFs within a quiescent solar prominence. From the observation, we find that the plasma primarily has a circular motion and a downward motion separately in the middle section and legs of the prominence, which creates a piecewise mass flow along the observed prominence. Moreover, the observation also shows a clear displacement of MF's velocity peaks in the middle section of the prominence. All of these provide us with a detailed record of MFs within a solar prominence and show a new approach to detecting the physical properties of prominence.

  17. A rare case of cleidocranial dysplasia presenting with failure to thrive

    Science.gov (United States)

    Mahajan, Parag Suresh; Mahajan, Anuradha Parag; Mahajan, Prashant Suresh

    2015-01-01

    Cleidocranial dysplasia (CCD) is a rare (1:1,000,000) congenital condition secondary to spontaneous mutation (40%) or autosomal dominant inheritance (60%) affecting skeletal and dental systems. Hypomineralization of the hypoplastic clavicles and/or cranium is the major feature observed by prenatal ultrasound. Radiologically clavicles are hypoplastic or absent in chest X-ray. Delayed closure of the fontanelle and the skull sutures in pediatric and adolescent population and increased mobility of shoulders in all age groups (exhibited by the ability to bring shoulders close to each other) are prominent clinical diagnostic features of CCD. The diagnosis of CCD is often missed or significantly delayed. The management of CCD involves a multidisciplinary approach and its early diagnosis is essential to select an optimum plan and therapeutic benefit. We present here a case of CCD in a 17-month-old girl referred to us for investigation of below average weight and height gain; we stress on the usefulness of early diagnosis in the management of CCD and discuss current management concepts. PMID:25810671

  18. Prominent central spinal canal on MRI - normal variant or pathology

    International Nuclear Information System (INIS)

    Dugal, T.P.; Brazier, D.; Roche, J.

    2002-01-01

    Full text: The sensitivity of MRI can make differentiation of normal from abnormal challenging.The study investigates whether a visible central spinal canal is pathological or a normal variant. We review eight MRI (mostly on a 1.5 Tesla unit) cases where there is a visible central cavity in keeping with a central canal and review the literature. The central canal is a space in the medial part of the grey-matter commissure between the anterior and posterior horns. Histopathological studies show that the canal is present at birth with the majority showing subsequent involution but is uncommonly imaged on MRI. The main differential diagnosis is syringomyelia which usually presents with deficits in pain and sensation corresponding to the appropriate level often with a demonstrable aetiology. Two thirds of our patients were female with an average age of thirty-six years (range 26-45). The patients were largely asymptomatic or their symptoms appeared unrelated to the imaging findings. Three patients had minor previous trauma and two others had non-bacterial meningitis up to twenty years earlier. No patient had known spinal surgery or trauma.The cavity corresponded tomographically to the expected site of the central canal. The canal was in the thoracic location. The canal diameter ranged from one to five millimetres and its length varied from one half a vertebral body height to extending over the entire thoracic region. Its configuration was either filiform or fusiform, with smooth contours. No predisposing features to suggest syringomyelia or other structural abnormalities were noted. Where Gadolinium was given no abnormal enhancement was observed. These cases add to the literature and suggest that these prominent canals are largely asymptomatic and should be viewed as normal variants. Copyright (2002) Blackwell Science Pty Ltd

  19. Sessile serrated adenomas with dysplasia: morphological patterns and correlations with MLH1 immunohistochemistry.

    Science.gov (United States)

    Liu, Cheng; Walker, Neal I; Leggett, Barbara A; Whitehall, Vicki Lj; Bettington, Mark L; Rosty, Christophe

    2017-12-01

    Sessile serrated adenomas are the precursor polyp of approximately 20% of colorectal carcinomas. Sessile serrated adenomas with dysplasia are rarely encountered and represent an intermediate step to malignant progression, frequently associated with loss of MLH1 expression. Accurate diagnosis of these lesions is important to facilitate appropriate surveillance, particularly because progression from dysplasia to carcinoma can be rapid. The current World Health Organization classification describes two main patterns of dysplasia occurring in sessile serrated adenomas, namely, serrated and conventional. However, this may not adequately reflect the spectrum of changes seen by pathologists in routine practice. Furthermore, subtle patterns of dysplasia that are nevertheless associated with loss of MLH1 expression are not encompassed in this classification. We performed a morphological analysis of 266 sessile serrated adenomas with dysplasia with concurrent MLH1 immunohistochemistry with the aims of better defining the spectrum of dysplasia occurring in these lesions and correlating dysplasia patterns with MLH1 expression. We found that dysplasia can be divided morphologically into four major patterns, comprising minimal deviation (19%), serrated (12%), adenomatous (8%) and not otherwise specified (79%) groups. Minimal deviation dysplasia is defined by minor architectural and cytological changes that typically requires loss of MLH1 immunohistochemical expression to support the diagnosis. Serrated dysplasia and adenomatous dysplasia have distinctive histological features and are less frequently associated with loss of MLH1 expression (13 and 5%, respectively). Finally, dysplasia not otherwise specified encompasses most cases and shows a diverse range of morphological changes that do not fall into the other subgroups and are frequently associated with loss of MLH1 expression (83%). This morphological classification of sessile serrated adenomas with dysplasia may represent an

  20. Fibrous dysplasia with cartilaginous differentiation (''fibrocartilaginous dysplasia''): a review, with an illustrative case followed for 18 years

    Energy Technology Data Exchange (ETDEWEB)

    Kyriakos, Michael [Division of Surgical Pathology, Washington University School of Medicine, St. Louis, Missouri (United States); Department of Pathology, Washington University School of Medicine, 660 S. Euclid Avenue, Campus Box 8118, MO 63110, St. Louis (United States); McDonald, Douglas J. [Department of Orthopaedic Surgery, Washington University School of Medicine, St. Louis, Missouri (United States); Sundaram, Murali [Department of Radiology, The Mayo Clinic, Rochester, Minnesota (United States)

    2004-01-01

    A 21-year-old man with an 18-year history of progressive, and deforming, monomelic fibrous dysplasia with massive cartilaginous differentiation (fibrocartilaginous dysplasia) is described. A review is made of all prior reported examples of this entity in the English language medical literature. The radiologic and histologic differential diagnoses are described, distinguishing the lesion from chondrosarcoma and from fibrocartilaginous mesenchymoma. (orig.)

  1. Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development.

    Science.gov (United States)

    Wahlbuhl-Becker, Mandy; Faschingbauer, Florian; Beckmann, Matthias W; Schneider, Holm

    2017-04-01

    Background X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia, is caused by mutations in the gene EDA. While only affected men develop the full-blown clinical picture, females who are heterozygous for an EDA mutation often also show symptoms such as hypodontia, hypotrichosis and hypohidrosis. These women may also suffer from malformations of the mammary gland which represent not just a cosmetic problem but can limit their breastfeeding capability. This paper summarizes the findings of the first systematic study on the impact of hypohidrotic ectodermal dysplasia on breastfeeding. Patients Thirty-eight adult female members of the German-Swiss-Austrian ectodermal dysplasia patient support group participated in a structured interview; most of them also agreed to a photodocumentation of their mammary region. Thirty-one women carried mutations in EDA (Group A) and seven were affected by other forms of hypohidrotic ectodermal dysplasia (Group B). Results 39 % of the women of Group A reported that their breasts were of different size or entirely absent on one side. In Group B, 86 % of the women reported differently sized or even absent breasts; two of these women lacked both breasts entirely. Most women described their nipples as exceptionally flat. 10 % of the women of Group A had more than two nipples. The high percentage of deviations from the norm was confirmed in the photodocumentation. Both groups had few or no sebaceous glands of Montgomery in the areolar region. Around 80 % of interviewed women had children and had attempted to breastfeed their first child. 67 % of the mothers in Group A had had difficulty in breastfeeding their infants and generally attributed this difficulty to their flat nipples. All of the mothers in Group B reported difficulties in breastfeeding; 60 % had not been able to breastfeed their first child. Conclusion Mothers with hypohidrotic ectodermal dysplasia very often have difficulty

  2. Curved planar reconstruction of MR images in focal cortical dysplasia of the brain

    International Nuclear Information System (INIS)

    Chung, Gyung Ho; Lee, Sang Yong; Kim, Chong So; Kim, Young Kon; Lee, Young Hwan; Jeong, Su Hyun

    2002-01-01

    To describe curved planar reconstruction imaging (CPR) and determine its usefulness in the evaluation of focal cortical dysplasia of the brain. In 17 cases of focal cortical dysplasia (cortical dysplasia (n=9), schizencephaly (n=5), and heterotopia (n=3), CPR images were created using a multiplanar reconstruction program and imaging data obtained during T1 magnetization prepared rapid acquisition gradient-echo MR imaging. We assessed the precise configuration of abnormalities and their relation to adjacent gyri and sulci. CPRI showed the brain cortex as a 2D panoramic image, demonstrating the precise configurations and locations of dysplasia-associated abnormalities and their relation to adjacent gyri and sulci, and the precise shape of the gray-white matter interface. CPRI can provide important radiological information about the extension and configuration of focal cortical dysplasia, and its relation to neighboring cortical structures. We believe that CPRI should form an essential part of the routine investigation os suspected cases of focal cortical dysplasia

  3. Squamous cell dysplasia and carcinoma of the conjunctiva

    DEFF Research Database (Denmark)

    Ramberg, Ingvild; Heegaard, Steffen; Prause, Jan Ulrik

    2015-01-01

    Purpose To investigate the epidemiology of squamous cell dysplasia and carcinoma of the conjunctiva in Denmark. Methods Review of the histopathological case reports at the Eye Pathology Institute (EPI), University of Copenhagen, and the National Danish Pathology Bank from 1980 to 2011. Information......%) had epithelial dysplasia, 19 (13%) had carcinoma in situ, and 29 (20%) had squamous cell carcinoma. A significantly higher proportion of men were found. The median age at diagnosis was 65 years. The risk of recurrence was 10.0% [95% confidence interval (CI): 5.0–15.0] after 1 year and 17.2% (95% CI......: 10.8–23.7) after 5 years. The lesions were most often localized to the corneal limbus. In our records, one patient had a lymph node metastasis and the disease necessitated enucleation in two patients. No patients had died from squamous cell carcinoma of the conjunctiva. Conclusion Overall, our data...

  4. Familial cleidocranial dysplasia misdiagnosed as rickets over three generations.

    Science.gov (United States)

    Franceschi, Roberto; Maines, Evelina; Fedrizzi, Michela; Piemontese, Maria Rosaria; De Bonis, Patrizia; Agarwal, Nivedita; Bellizzi, Maria; Di Palma, Annunziata

    2015-10-01

    Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, late closure of the fontanels, dental problems and other skeletal features. CCD is caused by mutations, deletions or duplications in runt-related transcription factor 2 (RUNX2), which encodes for a protein essential for osteoblast differentiation and chondrocyte maturation. We describe three familial cases of CCD, misdiagnosed as rickets over three generations. No mutations were detected on standard DNA sequencing of RUNX2, but a novel deletion was identified on quantitative polymerase chain reaction (qPCR) and multiple ligation-dependent probe amplification (MLPA). The present cases indicate that CCD could be misdiagnosed as rickets, leading to inappropriate treatment, and confirm that mutations in RUNX2 are not able to be identified on standard DNA sequencing in all CCD patients, but can be identified on qPCR and MLPA. © 2015 Japan Pediatric Society.

  5. Angiographic diagnosis of fibromuscular dysplasia of the renal arteries

    International Nuclear Information System (INIS)

    Petkov, B.; Grigorov, G.; Nedelkov, G.

    1982-01-01

    In the nosological structure of renovascular hypertensions fibromuscular dysplasia of the renal arteries by incidence ranks second after atherosclerosis. The illness affects mainly women, more frequently young and having borne a child. Hypertension in such patients is usually characterized by high values of the diastolic pressure, and leads to early neurologic complaints such as headache, sight impairment, vertigo and Meniere-like syndromes. Morphological and functional changes are likewise described. Some of the literature statements concerning the etiopathogenesis and classification of fibromuscular dysplasia are critically assayed. The success of the surgical management depends on the timely established exact diagnosis, and angiography appears to be the only method of primary importance in this respect. (author)

  6. Recurrent Bacterial Meningitis in a Child with Mondini Dysplasia

    Directory of Open Access Journals (Sweden)

    Eda Kepenekli-Kadayifci

    2014-01-01

    Full Text Available Mondini dysplasia, also known as Mondini malformation, is a developmental abnormality of the inner and middle ears that can cause hearing loss, cerebrospinal fluid (CSF leakage, and recurrent bacterial meningitis (RBM, which is defined as two or more episodes of meningitis separated by a period of convalescence and the complete resolution of all signs and symptoms. An accurate diagnosis of the underlying pathology is crucial to prevent further episodes from occurring. Herein, we present a three-year-old boy with RBM and unilateral sensorineural hearing loss. During the evaluation to determine the etiology of the RBM, cystic malformation in the cochlea and vestibular dilatation consistent with Mondini dysplasia were detected via computerized tomography (CT of the temporal bone.

  7. Recurrent bacterial meningitis in a child with mondini dysplasia.

    Science.gov (United States)

    Kepenekli-Kadayifci, Eda; Karaaslan, Ayşe; Atıcı, Serkan; Binnetoğlu, Adem; Sarı, Murat; Soysal, Ahmet; Altınkanat, Gülşen; Bakır, Mustafa

    2014-01-01

    Mondini dysplasia, also known as Mondini malformation, is a developmental abnormality of the inner and middle ears that can cause hearing loss, cerebrospinal fluid (CSF) leakage, and recurrent bacterial meningitis (RBM), which is defined as two or more episodes of meningitis separated by a period of convalescence and the complete resolution of all signs and symptoms. An accurate diagnosis of the underlying pathology is crucial to prevent further episodes from occurring. Herein, we present a three-year-old boy with RBM and unilateral sensorineural hearing loss. During the evaluation to determine the etiology of the RBM, cystic malformation in the cochlea and vestibular dilatation consistent with Mondini dysplasia were detected via computerized tomography (CT) of the temporal bone.

  8. Fibrous dysplasia as a rare cause of nasolacrimal duct obstruction

    Directory of Open Access Journals (Sweden)

    Bahtiyar Polat

    2015-09-01

    Full Text Available Fibrous dysplasia of the paranasal sinuses is mostly asymptomatic, but sometimes may cause signs and symptoms de- pending on its location. We report two cases of maxillary fibrous dysplasia obstructing the lacrimal drainage system as a reason of chronic dacryocystitis, and reviewed the related literature. The first case underwent an endonasal endoscopic approach combined with external dacryocystorhinostomy. He had a patent lacrimal system at one-year follow-up. The le- sion was completely removed via an endonasal endoscopic approach in the second case, wherein the patient was asymp- tomatic of the six-month follow-up period. [Arch Clin Exp Surg 2015; 4(3.000: 172-175

  9. Morphology and Dynamics of Solar Prominences from 3D MHD Simulations

    Science.gov (United States)

    Terradas, J.; Soler, R.; Luna, M.; Oliver, R.; Ballester, J. L.

    2015-01-01

    In this paper we present a numerical study of the time evolution of solar prominences embedded in sheared magnetic arcades. The prominence is represented by a density enhancement in a background-stratified atmosphere and is connected to the photosphere through the magnetic field. By solving the ideal magnetohydrodynamic equations in three dimensions, we study the dynamics for a range of parameters representative of real prominences. Depending on the parameters considered, we find prominences that are suspended above the photosphere, i.e., detached prominences, but also configurations resembling curtain or hedgerow prominences whose material continuously connects to the photosphere. The plasma-β is an important parameter that determines the shape of the structure. In many cases magnetic Rayleigh-Taylor instabilities and oscillatory phenomena develop. Fingers and plumes are generated, affecting the whole prominence body and producing vertical structures in an essentially horizontal magnetic field. However, magnetic shear is able to reduce or even to suppress this instability.

  10. MORPHOLOGY AND DYNAMICS OF SOLAR PROMINENCES FROM 3D MHD SIMULATIONS

    Energy Technology Data Exchange (ETDEWEB)

    Terradas, J.; Soler, R.; Oliver, R.; Ballester, J. L. [Departament de Física, Universitat de les Illes Balears, E-07122 Palma de Mallorca (Spain); Luna, M., E-mail: jaume.terradas@uib.es [Instituto de Astrofísica de Canarias, E-38200 La Laguna, Tenerife (Spain)

    2015-01-20

    In this paper we present a numerical study of the time evolution of solar prominences embedded in sheared magnetic arcades. The prominence is represented by a density enhancement in a background-stratified atmosphere and is connected to the photosphere through the magnetic field. By solving the ideal magnetohydrodynamic equations in three dimensions, we study the dynamics for a range of parameters representative of real prominences. Depending on the parameters considered, we find prominences that are suspended above the photosphere, i.e., detached prominences, but also configurations resembling curtain or hedgerow prominences whose material continuously connects to the photosphere. The plasma-β is an important parameter that determines the shape of the structure. In many cases magnetic Rayleigh-Taylor instabilities and oscillatory phenomena develop. Fingers and plumes are generated, affecting the whole prominence body and producing vertical structures in an essentially horizontal magnetic field. However, magnetic shear is able to reduce or even to suppress this instability.

  11. Uterus Dysplasia Associated with Cervico-Vaginal Agenesis

    Directory of Open Access Journals (Sweden)

    Ali Mahdavi

    2017-10-01

    Full Text Available Müllerian ducts can form upper parts of normal female reproductive system and any failure in ductal fusion may result in to müllerian duct anomalies (MDA. We present a case of MDA and a uterus dysplasia with no evidence of cervical or upper vaginal tissue. This case showes the role of magnetic resonace imaging (MRI on MDA diagnosis and urges the need for a unified reliable and practical classification more compatible with clinical practice.

  12. Further delineation of the odonto-onycho-dermal dysplasia syndrome.

    Science.gov (United States)

    Mégarbané, Hala; Haddad, May; Delague, Valérie; Renoux, Julien; Boehm, Nelly; Mégarbané, André

    2004-08-30

    We report on three boys, two brothers and their maternal cousin, presenting with dry hair, pilar keratosis, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma and hyperhidrosis of palms and soles. Histology of the skin showed orthokeratotic, hyperkeratosis, hypergranulosis, and mild acanthosis in the epidermis. Scanning electron microscopic examination of the hair showed longitudinal depressions in some hair. These features are close to a rare entity: the odonto-onycho-dermal dysplasia but with some differing features. Copyright 2004 Wiley-Liss, Inc.

  13. Congenital dislocation of knee with ipsilateral developmental dysplasia of hip

    Directory of Open Access Journals (Sweden)

    Sameer Kakar

    2017-01-01

    Full Text Available We present a rare case of a newborn having congenital knee dislocation (CDK with ipsilateral developmental dysplasia of hip (DDH. This case report shows how abnormal intrauterine pressure leads to dislocation of various joints in utero. We managed this conservatively with Pavlik Harness for DDH and serial corrective casting with manipulation for CDK with a satisfactory result after follow-up of 6 months.

  14. Florid cemento osseous dysplasia in association with dentigerous cyst.

    Science.gov (United States)

    Sanjai, Karpagaselvi; Kumarswamy, Jayalakshmi; Kumar, Vinod K; Patil, Archana

    2010-07-01

    We present a case of florid cemento-osseous dysplasia occurring in a 20-year-old Indian woman. The subject presented with three lesions involving the maxillary right quadrant, maxillary left quadrant and mandibular left quadrant. The mandibular left quadrant also demonstrated a cyst.The diagnosis was made by correlating the clinical presentation with that of the radiological and histopathological findings. This is a rare entity because of an unusual combination of Asian race along with the association of dentigerous cyst.

  15. Telescopic overdenture for oral rehabilitation of ectodermal dysplasia patient

    OpenAIRE

    Gupta, Charu; Verma, Mahesh; Gupta, Rekha; Gill, Shubhra

    2015-01-01

    Reduced number of teeth with underdeveloped alveolar ridges poses a greatest prosthetic challenge in rehabilitation of ectodermal dysplasia patients (ED). Furthermore, surgical risks and financial constraints may preclude the implant supported prosthesis, the most desirable treatment option in an adult ED patient. Long edentulous span does not permit fixed dental prosthesis (FDP) as well. Telescopic denture by incorporating the best of both fixed and removable prosthesis can be a viable treat...

  16. Concomitant achondroplasia and developmental dysplasia of the hip

    OpenAIRE

    Malcolm, Tennison L.; Phan, Duy L.; Schwarzkopf, Ran

    2015-01-01

    Achondroplasia (ACH) is the most common form of hereditary dwarfism and presents with multiple musculoskeletal anomalies but is not normally associated with premature hip arthritis. Developmental dysplasia of the hip (DDH) is a spectrum of disease resulting in shallow acetabular depth and a propensity for chronic femoral subluxation or dislocation; it is among the most common causes of premature arthritis. This case report describes the diagnosis of symptomatic DDH in a patient with ACH and h...

  17. HPV prevalence and HPV-related dysplasia in elderly women.

    Directory of Open Access Journals (Sweden)

    Ruth S Hermansson

    Full Text Available In Sweden, where screening ends at the age of 60, about 30% of the cervical cancer cases occur in women older than 60. The aim of the present study was to investigate the prevalence of HPV and cervical dysplasia in women of 60 years and above.From September 2013 until June 2015, 1051 women aged 60-89 years (mean 68 years were sampled for an HPV test when attending an outpatient gynecology clinic. Women with positive results had a second HPV test and liquid based cytology (LBC, after 3.5 months on average. Those with a positive second HPV test were examined by colposcopy, and biopsy and a sample for LBC was obtained.The prevalence of HPV was 4.1%, (95%CI 3.0-5.5, n = 43 at the first test, and at the second test 2.6% remained positive (95%CI 1.7-3.8, n = 27. The majority of women positive in both HPV tests, had dysplasia in histology, 81.5% (22/27 (4 CIN 2-0.4%, 18 CIN 1-1.7%. HPV-related dysplasia was found in 2.1%, (95%CI 1.3-3.2, n = 22 of the 1051 women. Four of the 22 women with positive HPV tests also had abnormal cytology, one ASCUS and three CIN 1. No cancer or glandular dysplasia was detected.A significant proportion of elderly women were found to have a persistent cervical HPV infection. Among them there was a high prevalence of CIN diagnosed by histology. The HPV test showed high sensitivity and specificity in detecting CIN in elderly women, while cytology showed extremely low sensitivity.

  18. Dosimetry of computerized tomography in the evaluation of hip dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Guyer, B.; Bassano, D.A.; Levinsohn, E.M.; Smith, D.S.; Cady, R.B.

    1984-07-01

    The usefulness of computerized tomography (CT) in the assessment of hip dysplasia has recently been given attention in the literature and concern regarding radiation dose has been raised. This study was undertaken to measure the radiation dose, both in and out of plaster, for plain films, arthrography, tomography, and CT. A method is suggested to reduce dosage by 80% without compromising diagnostic information. Our experience with 25 scans of patients aged 4 months to 39 years is presented.

  19. The extracellular matrix and altered diffusion in focal cortical dysplasia

    Czech Academy of Sciences Publication Activity Database

    Homola, Aleš; Vargová, Lýdia; Cicanič, Michal; Zámečník, J.; Marusič, P.; Kršek, P.; Syková, Eva

    2011-01-01

    Roč. 59, S1 (2011), S106-S106 ISSN 0894-1491. [European meeting on Glia l Cells in Health and Disease /10./. 13.09.2011-17.09.2011, Prague] R&D Projects: GA MŠk 1M0538; GA ČR GA309/09/1597 Institutional research plan: CEZ:AV0Z50390703 Keywords : focal cortical dysplasia * diffusion * extracellular matrix Subject RIV: FH - Neurology

  20. Recurrent Bacterial Meningitis in a Child with Mondini Dysplasia

    OpenAIRE

    Kepenekli-Kadayifci, Eda; Karaaslan, Ayşe; Atıcı, Serkan; Binnetoğlu, Adem; Sarı, Murat; Soysal, Ahmet; Altınkanat, Gülşen; Bakır, Mustafa

    2014-01-01

    Mondini dysplasia, also known as Mondini malformation, is a developmental abnormality of the inner and middle ears that can cause hearing loss, cerebrospinal fluid (CSF) leakage, and recurrent bacterial meningitis (RBM), which is defined as two or more episodes of meningitis separated by a period of convalescence and the complete resolution of all signs and symptoms. An accurate diagnosis of the underlying pathology is crucial to prevent further episodes from occurring. Herein, we present a...

  1. Multidisciplinary approach of ectodermal dysplasia with implant retained fixed prosthesis

    Directory of Open Access Journals (Sweden)

    Vishnu Priya

    2013-01-01

    Full Text Available Ectodermal dysplasia represents a group of rare inherited conditions in which two or more ectodermally derived anatomical structures fail to develop. Early dental intervention can improve patient′s appearance, thereby minimizing associated emotional and psychological problems in these patients. Treatment requires a teamwork by medical personnel along with dental professionals of various specialties. Here, a rare case of a young female patient is presented with prosthetic management with implant supported fixed partial denture.

  2. Placental mesenchymal dysplasia: case report with gross and histological findings

    Directory of Open Access Journals (Sweden)

    Marcello Pecoraro Toscano

    2014-12-01

    Full Text Available Placental mesenchymal dysplasia (PMD is a rare placental disorder characterized by placental enlargement and areas of abnormal, enlarged, grape-like villi. This condition may resemble a partial hydatidiform mole and may occur associated with Beckwith–Wiedemann syndrome (BWS or in phenotypically normal fetuses. There were 110 cases reported so far. We describe one case with typical gross and microscopic placental lesions.

  3. Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement

    Energy Technology Data Exchange (ETDEWEB)

    Karam, Adib R.; Birjawi, Ghina A.; Khoury, Nabil J. [American University of Beirut Medical Center, Department of Diagnostic Radiology, Beirut (Lebanon); Saghieh, Said [American University of Beirut Medical Center, Department of Orthopedic Surgery, Beirut (Lebanon); Tawil, Ayman [American University of Beirut Medical Center, Department of Pathology, Beirut (Lebanon)

    2008-12-15

    Dysplasia epiphysealis hemimelica (or Trevor's disease) is a rare developmental bone dysplasia characterized by benign osteocartilaginous overgrowth involving one or multiple epiphyses, usually of a single lower extremity. It is classified as localized form, classical form (most common), and generalized form. In this report we describe a case of generalized form of dysplasia epiphysealis hemimelica with involvement of the contralateral sacroiliac joint, which is an extremely rare presentation. (orig.)

  4. Perinatal Autopsy Findings in a Case of De Novo Hypohidrotic Ectodermal Dysplasia.

    Science.gov (United States)

    Chikkannaiah, Panduranga; Nagaraju, Smitha; Kangle, Rajit; Gosavi, Mansi

    2015-01-01

    Ectodermal dysplasia are group of inherited disorders involving the developmental defects of ectodermal structures like hair, teeth, nails, sweat glands, and others. X-linked recessive inheritance is most common. Here we describe perinatal autopsy findings in a case of de novo ectodermal dysplasia in a female fetus. To the best of our knowledge, this is the first fetal autopsy description in a case of ectodermal dysplasia.

  5. Two sibs who are double heterozygotes for achondroplasia and pseudoachondroplastic dysplasia.

    OpenAIRE

    Woods, C G; Rogers, J G; Mayne, V

    1994-01-01

    We report a family in which two sibs have both achondroplasia and pseudoachondroplastic dysplasia. The mother has achondroplasia and the father has pseudoachondroplastic dysplasia, which he had inherited from his father. Both children appeared typical of achondroplasia at birth. By 1 1/2 years they had developed a fixed lumbar kyphosis with gibbus and had additional x ray changes unusual for just achondroplasia and suggestive of pseudoachondroplastic dysplasia. Subsequently both children have...

  6. Generalized dysplasia epiphysealis hemimelica with contralateral sacro-iliac joint involvement

    International Nuclear Information System (INIS)

    Karam, Adib R.; Birjawi, Ghina A.; Khoury, Nabil J.; Saghieh, Said; Tawil, Ayman

    2008-01-01

    Dysplasia epiphysealis hemimelica (or Trevor's disease) is a rare developmental bone dysplasia characterized by benign osteocartilaginous overgrowth involving one or multiple epiphyses, usually of a single lower extremity. It is classified as localized form, classical form (most common), and generalized form. In this report we describe a case of generalized form of dysplasia epiphysealis hemimelica with involvement of the contralateral sacroiliac joint, which is an extremely rare presentation. (orig.)

  7. Development and clinical course of diseases accompanied by connective tissue dysplasia in children of puberty age

    Directory of Open Access Journals (Sweden)

    Elizarova S.Yu.

    2011-03-01

    Full Text Available The risk of development and clinical course of somatic diseases have been analyzed in the research work. 111 adolescents suffering from connective tissue dysplasia have been under the study. It has been stated that the frequency of somatic diseases among adolescents with connective tissue dysplasia is higher than this frequency among adolescents without such disease. Phenotypic signs of connective tissue dysplasia have been revealed. They are responsible for the development of bronchial asthma and severe stomach ulcer

  8. Prosthodontic management of hypohidrotic ectodermal dysplasia: a case report

    Directory of Open Access Journals (Sweden)

    Emilija Bajraktarova Valjakova

    2015-09-01

    Full Text Available Introduction: Ectodermal dysplasia (ED is a hereditary disorder associated with developmental disorders of two or more structures of ectodermal embryonic origin. Hypodontia or anodontia of the primary and permanent dentition, poorly developed alveolar ridges and improper maxillo – mandibular relations, are the most common oral manifestations. Management of patients with ectodermal dysplasia requires a multidisciplinary team approach. Case presentation: A 6.5 year-old boy with hypohidrotic ectodermal dysplasia (HED presented in this article, had typical features of HED: hypohidrosis, hypotrichosis, severe hypodontia, atrophic alveolar ridges, old-looking facial expression. According to the patient’s age and clinical findings, removable complete over-denture prosthesis in both arches was the treatment of choice. Conclusion: In patients with ED, it is important to establish correct maxillo – mandibular relations and normal function of the dento-facial system (chewing, swallowing, and speaking. Prosthodontic treatment has a major impact on aesthetics and functions,facilitates psychological development and improves emotional condition and social life of the patient.

  9. Expression of Podoplanin in Laryngeal Squamous Cell Carcinoma and Dysplasia.

    Science.gov (United States)

    Ibrahim, Badawia Bayoumy; Salem, Mostafa Mohamed; Khairy, Rasha Ahmed; Al Gunaid, Reema Abdul Rahman

    2017-05-01

    In human cancers, podoplanin expression and its correlation with tumour invasive potential raise its possible role as a diagnostic and prognostic marker for cancer. To investigate the immunohistochemical expression of podoplanin in laryngeal Squamous Cell Carcinoma (SCC) and dysplasia. This study included a total of 60 archived, formalin fixed, paraffin embedded tissue blocks of 40 cases of laryngeal SCC and 20 cases of dysplastic lesions. The samples were immunohistochemically analysed for podoplanin expression. Podoplanin expression was significantly higher in laryngeal SCC (90%) than laryngeal dysplastic lesions (55%) (p-value=0.002). The expression of podoplanin was significantly increased with the higher grades of dysplasia (p-value=0.016). A significant positive correlation was detected between podoplanin expression in laryngeal SCC and depth of tumour invasion (p-value=0.035), and stage (p-value=0.026). The high expression of podoplanin in laryngeal SCC and its significant correlation with poor prognostic parameters recommends podoplanin as a prognostic marker in laryngeal SCC. In addition, increased podoplanin expression with higher grades of dysplasia, supports its role in malignant transformation and allows us to recommend its evaluation in premalignant lesions.

  10. Hypohidrotic ectodermal dysplasia: a felicitous approach to esthetic and prosthetic management.

    Science.gov (United States)

    Singh, Tapan; Singh, Ronauk; Singh, Gurendra Pal; Singh, Jitender Pal

    2013-05-01

    Ectodermal dysplasia is a hereditary disease characterized by congenital dysplasia of one or more ectodermal structure and other accessory appendages. The oral manifestations are anodontia and poor bony foundation which impairs both esthetic as well as the masticatory function. The prosthodontic management of patients with such dysplastic condition necessitates a multidisciplinary approach. This case report describes the prosthodontic oral rehabilitation of a 16 years old female pediatric patient with ectodermal dysplasia. How to cite this article: Singh T, Singh R, Singh GP, Singh JP. Hypohidrotic Ectodermal Dysplasia: A Felicitous Approach to Esthetic and Prosthetic Management. Int J Clin Pediatr Dent 2013;6(2):140-145.

  11. Chronic renal failure due to unilateral renal agenesis and total renal dysplasia (=aplasia)

    International Nuclear Information System (INIS)

    Kroepelin, T.; Ziupa, J.; Wimmer, B.

    1983-01-01

    Three adult patients with unilateral renal agenesis/total dysplasia (= aplasia) and with an early chronic renal failure are presented. One patient had renal agenesis without ureter bud and ureteric ostium on one side, and reflux pyelonephritis on the other; one had small compact total renal dysplasia (= aplasia) on one side, while chronic uric acid nephropathy (chronic renal disease as a cause of gout) was diagnosed on the other; the third patient had a total large multicystic dysplasia on one side, and on the other a segmental large multicystic dysplasia. Radiological steps and radiodiagnostic criteria are discussed and the combination of urogenital and extraurogenital anomalies is referred to. (orig.)

  12. The Diagnostic importance of clinical and radiologic features of the Multiple Cemento-osseous dysplasia

    International Nuclear Information System (INIS)

    Han, M. R.; Kim, Y. H.; Kang, B. C.

    1998-01-01

    This case was diagnosed as multiple cementoosseous dysplasia on the basis of clinical and radiological features but was diagnosed as ossifying fibroma on the basis of histopathological feature. The histopathologic features of the multiple cementoosseous dysplasia and cementoossifying fibroma have common features of cementum, fibrous network and bone. Multiple cementoosseous dysplasia is reactive lesion and shows restricted lesion size, occurred on anterior and posterior tooth of the mandible and needs no treatment except periodic follow up. But Cementoossifying fibroma is the true neoplasm and grows continuously and needs surgical removal. The final diagnosis of the multiple cementoosseous dysplasia requires good correlation of the clinical histopathological, and radiological features.

  13. Identification of quantitative trait loci (QTL for canine hip dysplasia and canine elbow dysplasia in Bernese mountain dogs.

    Directory of Open Access Journals (Sweden)

    Sophia Pfahler

    Full Text Available A genome-wide association study for canine hip dysplasia (CHD and canine elbow dysplasia (CED using the Illumina canine high density bead chip had been performed for 174 Bernese mountain dogs. General and mixed linear model analysis identified two different regions with single nucleotide polymorphisms (SNPs on dog chromosome (CFA 14 significantly associated with CHD and a further significantly CHD-associated region on CFA37. For CED, four SNPs on CFA11 and 27 were significantly associated. The identified SNPs of four associated regions included nearby candidate genes. These possible positional candidates were the genes PON2 on CFA14 and FN1 on CFA37 for CHD and the genes LMNB1 on CFA11 and WNT10B on CFA27 for CED.

  14. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.

    Science.gov (United States)

    Adaimy, Lynn; Chouery, Eliane; Megarbane, Hala; Mroueh, Salman; Delague, Valerie; Nicolas, Elsa; Belguith, Hanen; de Mazancourt, Philippe; Megarbane, Andre

    2007-10-01

    Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. We studied three consanguineous Lebanese Muslim Shiite families that included six individuals affected with odonto-onycho-dermal dysplasia. Using a homozygosity-mapping strategy, we assigned the disease locus to an ~9-cM region at chromosome 2q35-q36.2, located between markers rs16853834 and D2S353, with a maximum multipoint LOD score of 5.7. Screening of candidate genes in this region led us to identify the same c.697G-->T (p.Glu233X) homozygous nonsense mutation in exon 3 of the WNT10A gene in all patients. At the protein level, the mutation is predicted to result in a premature truncated protein of 232 aa instead of 417 aa. This is the first report to our knowledge of a human phenotype resulting from a mutation in WNT10A, and it is the first demonstration of an ectodermal dysplasia caused by an altered WNT signaling pathway, expanding the list of WNT-related diseases.

  15. Magnetic Field-Vector Measurements in Quiescent Prominences via the Hanle Effect: Analysis of Prominences Observed at Pic-Du-Midi and at Sacramento Peak

    Science.gov (United States)

    Bommier, V.; Leroy, J. L.; Sahal-Brechot, S.

    1985-01-01

    The Hanle effect method for magnetic field vector diagnostics has now provided results on the magnetic field strength and direction in quiescent prominences, from linear polarization measurements in the He I E sub 3 line, performed at the Pic-du-Midi and at Sacramento Peak. However, there is an inescapable ambiguity in the field vector determination: each polarization measurement provides two field vector solutions symmetrical with respect to the line-of-sight. A statistical analysis capable of solving this ambiguity was applied to the large sample of prominences observed at the Pic-du-Midi (Leroy, et al., 1984); the same method of analysis applied to the prominences observed at Sacramento Peak (Athay, et al., 1983) provides results in agreement on the most probable magnetic structure of prominences; these results are detailed. The statistical results were confirmed on favorable individual cases: for 15 prominences observed at Pic-du-Midi, the two-field vectors are pointing on the same side of the prominence, and the alpha angles are large enough with respect to the measurements and interpretation inaccuracies, so that the field polarity is derived without any ambiguity.

  16. The effect of trochlear dysplasia on patellofemoral biomechanics: a cadaveric study with simulated trochlear deformities.

    Science.gov (United States)

    Van Haver, Annemieke; De Roo, Karel; De Beule, Matthieu; Labey, Luc; De Baets, Patrick; Dejour, David; Claessens, Tom; Verdonk, Peter

    2015-06-01

    Trochlear dysplasia appears in different geometrical variations. The Dejour classification is widely used to grade the severity of trochlear dysplasia and to decide on treatment. To investigate the effect of trochlear dysplasia on patellofemoral biomechanics and to determine if different types of trochlear dysplasia have different effects on patellofemoral biomechanics. Controlled laboratory study. Trochlear dysplasia was simulated in 4 cadaveric knees by replacing the native cadaveric trochlea with different types of custom-made trochlear implants, manufactured with 3-dimensional printing. For each knee, 5 trochlear implants were designed: 1 implant simulated the native trochlea (control condition), and 4 implants simulated 4 types of trochlear dysplasia. The knees were subjected to 3 biomechanical tests: a squat simulation, an open chain extension simulation, and a patellar stability test. The patellofemoral kinematics, contact area, contact pressure, and stability were compared between the control condition (replica implants) and the trochlear dysplastic condition and among the subgroups of trochlear dysplasia. The patellofemoral joint in the trochlear dysplastic group showed increased internal rotation, lateral tilt, and lateral translation; increased contact pressures; decreased contact areas; and decreased stability when compared with the control group. Within the trochlear dysplastic group, the implants graded as Dejour type D showed the largest deviations for the kinematical parameters, and the implants graded as Dejour types B and D showed the largest deviations for the patellofemoral contact areas and pressures. Patellofemoral kinematics, contact area, contact pressure, and stability are significantly affected by trochlear dysplasia. Of all types of trochlear dysplasia, the models characterized with a pronounced trochlear bump showed the largest deviations in patellofemoral biomechanics. Investigating the relationship between the shape of the trochlea and

  17. Walking pattern in adults with congenital hip dysplasia: 14 women examined by inverse dynamics

    DEFF Research Database (Denmark)

    Pedersen, Eva Natalia G.; Simonsen, Erik B; Alkjaer, T

    2004-01-01

    Knowledge of the gait dynamics in patients with hip dysplasia may help to understand the consequences of the mechanical changes in the hip.......Knowledge of the gait dynamics in patients with hip dysplasia may help to understand the consequences of the mechanical changes in the hip....

  18. Genetic variances, trends and mode of inheritance for hip and elbow dysplasia in Finnish dog populations

    NARCIS (Netherlands)

    Mäki, K.; Groen, A.F.; Liinamo, A.E.; Ojala, M.

    2002-01-01

    The aims of this study were to assess genetic variances, trends and mode of inheritance for hip and elbow dysplasia in Finnish dog populations. The influence of time-dependent fixed effects in the model when estimating the genetic trends was also studied. Official hip and elbow dysplasia screening

  19. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies.

    Science.gov (United States)

    Neri, G; Martini-Neri, M E; Katz, B E; Opitz, J M

    1984-09-01

    We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed.

  20. Medical and endoscopic management of high-grade dysplasia in Barrett's esophagus

    NARCIS (Netherlands)

    Wang, K. K.; Tian, J. M.; Gorospe, E.; Penfield, J.; Prasad, G.; Goddard, T.; WongKeeSong, M.; Buttar, N. S.; Lutzke, L.; Krishnadath, S.

    2012-01-01

    The management of high-grade dysplasia in Barrett's esophagus has clearly changed over recent years. The risk of cancer development is still substantial, with about one in three patients developing cancer, but a number of patients do not develop cancer. The nature of high-grade dysplasia has also

  1. The scapula as a window to the diagnosis of skeletal dysplasias

    International Nuclear Information System (INIS)

    Mortier, G.R.; Rimoin, D.L.; Lachman, R.S.

    1997-01-01

    Evaluation of the scapula can be useful in the diagnosis of skeletal dysplasias and helpful for the classification and delineation of new entities. A review of 2100 computerized cases of skeletal dysplasias in the International Skeletal Dysplasia Registry was performed. We found that the Luton type of platyspondylic lethal skeletal dysplasia differed radiographically from the San Diego type and Torrance type by the presence of two spikes at the inferior angle of the scapula. Hypoplasia of the body of the scapula, which is characteristic for campomelic dysplasia but not for kyphomelic dysplasia, is also present in Antley-Bixler syndrome. Radiographic and clinical similarities between campomelic dysplasia and Antley-Bixler syndrome suggest that they might be related disorders and that the latter condition should be included in the bent-bone dysplasia group. Similarity between the metaphyseal regions of the scapula and the metaphyses of the long tubular bones in the different types of short-rib polydactyly syndrome illustrates the importance of evaluation of the scapula in this group as well as in other well-defined or unknown osteochondrodysplasias. (orig.). With 8 figs

  2. Cone-beam computed tomography: An inevitable investigation in cleidocranial dysplasia

    Directory of Open Access Journals (Sweden)

    Nandita S Gupta

    2015-01-01

    Full Text Available Cleidocranial dysplasia is a heritable skeletal dysplasia and one of the most common features of this syndrome is multiple impacted supernumerary teeth. Cone-beam computed tomography, the most recent advancement in maxillofacial imaging, provides the clinician to view the morphology of the skull and the dentition in all three dimensions and help in treatment planning for the patient.

  3. Bilateral hereditary micro-epiphyseal dysplasia : clinical and genetic analysis of a Dutch family

    NARCIS (Netherlands)

    Mostert, Adrianus Klazinus

    2003-01-01

    This thesis is based upon a study of a Dutch family with a unique skeletal dysplasia first described by Elsbach in 1959. Because of the presence of microepiphyses, he called this disorder bilateral hereditary micro-epiphyseal dysplasia (BHMED) and distinguished it from more common multiple

  4. Multiple epiphyseal dysplasia complicated by severe osteochondritis dissecans of the knee. Incidence in two families

    Energy Technology Data Exchange (ETDEWEB)

    Versteylen, R.J.; Zwemmer, A.; Lorie, C.A.M.; Schuur, K.H.

    1988-09-01

    Two families are described which appear to contain examples of multiple epiphyseal dysplasia. In both families a striking incidence of severe osteochondritis of the knees was encountered. It is suggested that this was caused by the fragmented and maldeveloped epiphyses characteristic of epiphyseal dysplasia.

  5. The association between cervical dysplasia, a short cervix, and preterm birth.

    Science.gov (United States)

    Miller, Emily S; Sakowicz, Allie; Grobman, William A

    2015-10-01

    We sought to determine whether cervical dysplasia in the absence of an excisional procedure is associated with an increased risk of preterm birth (PTB) and whether that risk is independent of the presence of a short cervix. This is a cohort study including women with a singleton pregnancy who underwent routine cervical length assessment between 18-23 6/7 weeks of gestation, stratified by cervical dysplasia (ie, no prior dysplasia, prior dysplasia but no excisional procedure, or prior excisional procedure). The frequency of a short cervix (≤2.5 cm) and PTB were compared between groups and multivariable analyses were performed to identify whether: (1) dysplasia alone or a prior excisional procedure was associated with PTB; and (2) whether these factors remained independently associated with PTB after adjusting for the presence of a short cervix. Of the 18,528 women who met inclusion criteria, 3023 (16.3%) had prior dysplasia alone and 1356 (7.3%) had a prior excisional procedure. The frequency of a short cervix for women without dysplasia, with prior dysplasia alone, or with a prior excisional procedure was 0.8%, 1.0%, and 2.2%, respectively (P cervix. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. [From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor

    NARCIS (Netherlands)

    Ravenswaaij-Arts, C.M.A. van; Losekoot, M.

    2001-01-01

    Achondroplasia, the most common and best known skeletal dysplasia, is inherited in an autosomal dominant fashion. Like a number of other skeletal dysplasias, among which hypochondroplasia and thanatophoric dysplasia, achondroplasia is caused by mutations in the fibroblast growth factor receptor 3

  7. Secondary influences and ectopic causes of canine hip dysplasia. Critical constructive thoughts to hip dysplasia diagnostics and to current breeding strategies

    International Nuclear Information System (INIS)

    Schawalder, P.; Spreng, D.; Dietschi, E.; Dolf, G.; Gaillard, C.

    1996-01-01

    This article questions the stagnation of breeding results by hip dysplasia screening and its current etiology. The ''Coxa Valga Antetorta'', anteversion of the hip joint and ''soft tissue displasia'' are discussed besides a multitude of primary diseases leading to growth deformities and other diseases in the hip. Ectopic primary causes like malformation of the spine leading to a secondary ''dysplatic'' osteoarthritis of the hip (functional secondary dysplasia) are also discussed in this article. Recent and very promising breeding strategies (estimation of the breeding value) in the battle against hip dysplasia are presented. Biochemical, immunological and structural aspects are presented as a not totally utopic perspecitive. Molecular genetic markers for hip dysplasia will offer in the near future a possibility to detect carriers ct the disease by a blood sample ion before clinical manifestation

  8. MR imaging findings of acetabular dysplasia in adults

    International Nuclear Information System (INIS)

    James, Steven; Connell, David; Miocevic, Miranda; Malara, Frank; Pike, Jonathan; Young, David

    2006-01-01

    To evaluate the diagnostic accuracy of MR imaging in the identification of labral and articular cartilage lesions in patients with acetabular dysplasia. Pre-operative MR imaging was performed on 27 hips in 25 consecutive patients (16 males, 9 females, age range 19-52 years, mean age 31.2 years) with radiographic evidence of acetabular dysplasia (centre-edge angle of Wiberg <20 degrees). The average duration of symptoms was 16.2 months. Two musculoskeletal radiologists assessed MR images in consensus for the presence of abnormality involving the acetabular labrum and adjacent acetabular articular cartilage. A high resolution, non-arthrographic technique was used to assess the labrum and labral chondral transitional zone. Surgical correlation was obtained in all cases by a single surgeon experienced in hip arthroscopy and ten patients with normal hip MRI were included to provide a control group. The acetabular labra in the dysplastic hips demonstrated abnormal signal intensity, and had an elongated appearance when compared with the control group (mean length 10.9 mm vs 6.4 mm). Morphological appearances in the labra included surface irregularity, fissures and cleft formation. MR imaging correctly identified the severity of chondral abnormality in 24 of 27 hips (89%) when compared with arthroscopic findings. MR imaging demonstrates an elongated labrum, focal intra-substance signal change and irregularity and fissuring of the margins in patients with acetabular dysplasia. Abnormality is also identified at the labral chondral transitional zone, where fissuring, focal clefts, chondral deficiency and subchondral cyst formation may be apparent. A high-resolution, non-arthrographic technique can provide an accurate preoperative assessment and evaluate the presence of premature osteoarthritis. (orig.)

  9. Lumbar gibbus in storage diseases and bone dysplasias

    Energy Technology Data Exchange (ETDEWEB)

    Levin, T.L. [Department of Radiology, Division of Pediatric Radiology, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States); Berdon, W.E. [Department of Radiology, Division of Pediatric Radiology, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States); Lachman, R.S. [International Skeletal Dysplasia Registry, Los Angeles, CA (United States); Anyane-Yeboa, K. [Department of Pediatrics, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States); Ruzal-Shapiro, C. [Department of Radiology, Division of Pediatric Radiology, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States); Roye, D.P. Jr. [Department of Orthopedic Surgery, Columbia-Presbyterian Medical Center, Babies and Children`s Hospital of New York, NY (United States)

    1997-04-01

    Objective. The objective of this study was to review the problem of lumbar gibbus in children with storage diseases and bone dysplasias utilizing plain films and MR imaging. Materials and methods. Clinical histories and radiographic images in five patients with storage diseases [four mucopolysaccharidosis (MPS) and one mucolipidosis] and two with achondroplasia were reviewed. The International Skeletal Dysplasia Registry (Los Angeles, Calif.), surveyed for all patients with lumbar gibbus and skeletal dysplasias, provided 12 additional cases. Results. All patients had localized gibbus of the upper lumbar spine, characterized by anterior wedging and posterior displacement of the vertebrae at the apex of the curve, producing a beaked appearance. The curve, exaggerated in the sitting or standing position, was most severe in the two patients with MPS-IV (one of whom died). Both developed severe neurologic signs and symptoms requiring surgical intervention. In four patients, MR images demonstrated the apex of the curve to be at or below the conus. Two patients demonstrated anterior herniation of the intervertebral discs at the apex of the curve, though the signal intensity of the intervertebral discs was normal. Conclusion. Lumbar gibbus has important neurologic and orthopedic implications, and is most severe in patients with MPS. The etiology of the gibbus with vertebral beaking is multifactorial and includes poor truncal muscle tone, weight-bearing forces, growth disturbance and anterior disc herniation. The curve is generally at or below the conus. Neurologic complications are unusual, although orthopedic problems can arise. Due to their longer survival, patients with achondroplasia or Morquio`s disease are more vulnerable to eventual gibbus-related musculoskeletal complications. (orig.). With 6 figs., 2 tabs.

  10. Lumbar gibbus in storage diseases and bone dysplasias

    International Nuclear Information System (INIS)

    Levin, T.L.; Berdon, W.E.; Lachman, R.S.; Anyane-Yeboa, K.; Ruzal-Shapiro, C.; Roye, D.P. Jr.

    1997-01-01

    Objective. The objective of this study was to review the problem of lumbar gibbus in children with storage diseases and bone dysplasias utilizing plain films and MR imaging. Materials and methods. Clinical histories and radiographic images in five patients with storage diseases [four mucopolysaccharidosis (MPS) and one mucolipidosis[ and two with achondroplasia were reviewed. The International Skeletal Dysplasia Registry (Los Angeles, Calif.), surveyed for all patients with lumbar gibbus and skeletal dysplasias, provided 12 additional cases. Results. All patients had localized gibbus of the upper lumbar spine, characterized by anterior wedging and posterior displacement of the vertebrae at the apex of the curve, producing a beaked appearance. The curve, exaggerated in the sitting or standing position, was most severe in the two patients with MPS-IV (one of whom died). Both developed severe neurologic signs and symptoms requiring surgical intervention. In four patients, MR images demonstrated the apex of the curve to be at or below the conus. Two patients demonstrated anterior herniation of the intervertebral discs at the apex of the curve, though the signal intensity of the intervertebral discs was normal. Conclusion. Lumbar gibbus has important neurologic and orthopedic implications, and is most severe in patients with MPS. The etiology of the gibbus with vertebral beaking is multifactorial and includes poor truncal muscle tone, weight-bearing forces, growth disturbance and anterior disc herniation. The curve is generally at or below the conus. Neurologic complications are unusual, although orthopedic problems can arise. Due to their longer survival, patients with achondroplasia or Morquio's disease are more vulnerable to eventual gibbus-related musculoskeletal complications. (orig.). With 6 figs., 2 tabs

  11. MR imaging findings of acetabular dysplasia in adults

    Energy Technology Data Exchange (ETDEWEB)

    James, Steven; Connell, David [The Royal National Orthopaedic Hospital, Radiology Department, London, Middlesex (United Kingdom); Miocevic, Miranda; Malara, Frank; Pike, Jonathan [Victoria House Hospital, Radiology Department, Melbourne (Australia); Young, David [Melbourne Orthopaedic Group, Orthopaedic Surgery, Melbourne (Australia)

    2006-06-15

    To evaluate the diagnostic accuracy of MR imaging in the identification of labral and articular cartilage lesions in patients with acetabular dysplasia. Pre-operative MR imaging was performed on 27 hips in 25 consecutive patients (16 males, 9 females, age range 19-52 years, mean age 31.2 years) with radiographic evidence of acetabular dysplasia (centre-edge angle of Wiberg <20 degrees). The average duration of symptoms was 16.2 months. Two musculoskeletal radiologists assessed MR images in consensus for the presence of abnormality involving the acetabular labrum and adjacent acetabular articular cartilage. A high resolution, non-arthrographic technique was used to assess the labrum and labral chondral transitional zone. Surgical correlation was obtained in all cases by a single surgeon experienced in hip arthroscopy and ten patients with normal hip MRI were included to provide a control group. The acetabular labra in the dysplastic hips demonstrated abnormal signal intensity, and had an elongated appearance when compared with the control group (mean length 10.9 mm vs 6.4 mm). Morphological appearances in the labra included surface irregularity, fissures and cleft formation. MR imaging correctly identified the severity of chondral abnormality in 24 of 27 hips (89%) when compared with arthroscopic findings. MR imaging demonstrates an elongated labrum, focal intra-substance signal change and irregularity and fissuring of the margins in patients with acetabular dysplasia. Abnormality is also identified at the labral chondral transitional zone, where fissuring, focal clefts, chondral deficiency and subchondral cyst formation may be apparent. A high-resolution, non-arthrographic technique can provide an accurate preoperative assessment and evaluate the presence of premature osteoarthritis. (orig.)

  12. A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

    Science.gov (United States)

    Tiedemann Svendsen, Mathias; Henningsen, Emil; Hertz, Jens Michael; Vestergaard Grejsen, Dorthe; Bygum, Anette

    2014-09-01

    Ectodermal dysplasias form a complex, nosologic group of diseases with defects in at least 2 ectodermal structures. A retrospective study of patients with ectodermal dysplasia seen at our department over a period of 19 years (1994-2013) was performed. The study population consisted of 67 patients covering 17 different diagnoses. Forty-five families were identified of which 26 were sporadic cases with no affected family members. In 27 tested families a disease-causing mutation was identified in 23 families. Eleven mutations were novel mutations. To our knowledge, we present the first large ectodermal dysplasia cohort focusing on clinical manifestations in combination with mutational analysis. We recommend a nationwide study to estimate the prevalence of the ectodermal dysplasia and to ensure relevant molecular genetic testing which may form the basis of a national ectodermal dysplasia database.

  13. Assessment of adult hip dysplasia and the outcome of surgical treatment

    DEFF Research Database (Denmark)

    Troelsen, Anders

    2012-01-01

    Hip dysplasia and hip joint deformities in general are recognized as possible precursors of osteoarthritic development. Early and correct identification of hip dysplasia is important in order to offer timely joint preserving treatment. In the contemporary literature, several controversies exist......, and some of these were the focus of this doctoral thesis. Categorized into subjects, the major findings and their possible importance are listed below. DIAGNOSTIC ASSESSMENT OF HIP DYSPLASIA: A multi-observer study quantified the variability of different methods for diagnostic assessment of hip dysplasia...... and osteoarthritis and resulted in general recommendations regarding diagnostic assessment of hip dysplasia. Pelvic tilt was shown to differ significantly between the supine and weight-bearing positions in patients with dysplastic hip joints. This is a finding that adds controversy to the application of neutral...

  14. The clinical research of bone scan in patients with fibrous dysplasia of bone

    International Nuclear Information System (INIS)

    Yuan Zhibin; Yu Jianfang; Luo Quanyong; Lu Hankui; Zhu Jifang; Zhu Ruisen

    2002-01-01

    Objective: To study the characteristics of fibrous dysplasia of bone in bone imaging and evaluate the diagnostic value of radionuclide bone scan in fibrous dysplasia of bone. Methods: All 42 cases of fibrous dysplasia of bone patients had radionuclide bone scan performed and compared with other imaging modalities. A retrospective study method was used to analyze the imaging results. Results: Although fibrous dysplasia of bone showed uptake of 99m Tc-MDP in the images, its appearance characteristic was different from those metastatic bone tumors and other bone diseases. Combining with X rays and other imaging modalities can improve the diagnostic accuracy of this disease. Conclusion: Radionuclide bone scan has got certain value in the diagnosis of fibrous dysplasia of bone. Combining with other imaging modality can make up its disadvantage of low specificity

  15. Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes

    Energy Technology Data Exchange (ETDEWEB)

    Kere, J. [Washington Univ. School of Medicine, St. Louis, MO (United States)]|[Univ. of Helsinki (Finland); Grzeschik, K.H. [Univ. of Marburg (Germany); Limon, J. [Medical Academy, Gdansk (Poland); Gremaud, M.; Schlessinger, D. [Washington Univ. School of Medicine, St. Louis, MO (United States); De La Chapelle, A. [Univ. of Helsinki (Finland)

    1993-05-01

    Anhidrotic ectodermal dysplasia (EDA), an X-chromosomal recessive disorder, is expressed in a few females with chromosomal translocations involving bands Xq12-q13. Using available DNA markers from the region and somatic cell hybrids the authors mapped the X-chromosomal breakpoints in two such translocations. The breakpoints were further mapped within a yeast artificial chromosome contig constructed by chromosome walking techniques. Genomic DNA markers that map between the two translocation breakpoints were recovered representing putative portions of the EDA gene. 32 refs., 3 figs., 1 tab.

  16. Hip dysplasia in the cat: a report of three cases

    International Nuclear Information System (INIS)

    Patsikas, M.N.; Papazoglou, L.G.; Komninou, A.; Dessiris, A.K.; Tsimopoulos, G.

    1998-01-01

    Hip dysplasia was diagnosed in three cats. Two were presented with a history of hindlimb lameness and the other had a history of constipation. All were confined for two weeks and showed considerable clinical improvement. At follow-up examination the cats were free of clinical signs despite the deterioration in the radiological appearance of their hips. Luxation or subluxation of the hips, insufficient development of the craniolateral acetabular edges, loss of the arched shape of the cranial subchondral acetabular bones, shallow acetabula and secondary degenerative changes on the femoral heads and necks were the main radiological findings in the affected cats

  17. RUNX2 analysis of Danish cleidocranial dysplasia families

    DEFF Research Database (Denmark)

    Hansen, L; Riis, A K; Silahtaroglu, A

    2011-01-01

    Cleidocranial dysplasia (CCD) is an autosomal dominant inherited disease caused by mutations in the Runt gene RUNX2. Screening of 19 Danish CCD families revealed 16 pathogenic mutations (84%) representing 8 missense mutations, 2 nonsense mutations, 4 frame-shift mutations and 2 large deletions...... in the RUNX2 locus. Eight mutations were novel, two were found twice, and polymorphisms were found in the promoter region and in the conserved polyglutamine/polyalanine repeat. A large duplication downstream of RUNX2 found in one patient suggests a possible regulatory RUNX2 element. The CCD phenotypes...

  18. Clinicoroentgenological semiotics of chondroectodermal dysplasia (Ellis-van Creveld syndrome)

    International Nuclear Information System (INIS)

    Prokopenko, O.P.

    1989-01-01

    The paper is devoted to the description of a rare hereditary systemic skeletal disease-chondroectodermal dysplasia (CED). The clinical symptoms of CED are divided into 4 grupus. On the basis of 2 cases, symptoms of the affection of the locomotor system in patients with Ellis-van-Creveld syndrome are analyzed. An X-ray picture of hand and foot lesions is characterized not only by change in the shape, size, number and synostosis of some bones but also by marked reorganization of osseous tissue in the epimetaphysial regions. X-ray examination was shown to be the chief method for investigation of the osseous system

  19. Polyostotic fibrous dysplasia associated with intramuscular myxomas: Mazabraud syndrome

    International Nuclear Information System (INIS)

    Samper Wamba, Jose Daniel; Fernandez Bermudez, Maria Jose; Dominguez, Teresa Lorenzo; Pascua, Luis Ramos

    2015-01-01

    The authors report a new case of Mazabraud syndrome in a 69-year-old woman complaining of pain in her right thigh. Plain radiographs demonstrated radiological findings consistent with polyostotic fibrous dysplasia of the right femur and tibia. Magnetic resonance imaging (MRI) study showed soft tissue tumors located in the vastus intermedius muscle with typical signal features of intramuscular myxomas. Biopsy was not performed because of its benign nature. Symptomatic treatment was prescribed and all the lesions remained 1 year after the diagnosis

  20. Frequency and asymmetry of hip dysplasia in German Shepherd dog

    International Nuclear Information System (INIS)

    Torres, R.C.S.; Ferreira, P.M.; Silva, D.C.

    1999-01-01

    A study of frequency and asymmetry of hip dysplasia was carried out using 181 X-rays plates of German Shepherd dogs, both males and females, from June 1986 to March 1993. The X-ray plates were taken with the animals on the ventrodorsal position, with the limbs parallel and the pelvis symmetric. The average age of the dogs was 16.6 months. Results showed 72.4% of dysplastic dogs, being 5.3% unilateral, 89.4% bilateral simmetric and 5.3% bilateral asymmetric. (author) [pt

  1. [A case of Mondini dysplasia with bacterial meningitis].

    Science.gov (United States)

    Kajimoto, Madoka; Ichiyama, Takashi; Matsufuji, Hironori; Isumi, Hiroshi; Furukawa, Susumu

    2006-11-01

    A boy with bilateral hearing impairment developed pneumococcal meningitis at 14-month-old. Further examination revealed cerebrospinal fluid leakage due to bilateral Mondini dysplasia. He was cured by treatment with panipenem/betamiprone and dexamethasone, and then, he was performed an operation to fill the inner ear on day 30. He did not have bacterial meningitis 19 months after the operation. Children with congenital hearing impairment should be examined for malformation of the inner ear because the inner ear malformation has cerebrospinal fluid leakage and bacterial meningitis frequently.

  2. CRITICAL HEIGHT FOR THE DESTABILIZATION OF SOLAR PROMINENCES: STATISTICAL RESULTS FROM STEREO OBSERVATIONS

    Energy Technology Data Exchange (ETDEWEB)

    Liu Kai; Wang Yuming; Wang Shui; Shen Chenglong, E-mail: ymwang@ustc.edu.cn [CAS Key Laboratory of Geospace Environment, Department of Geophysics and Planetary Sciences, University of Science and Technology of China, Hefei, Anhui 230026 (China)

    2012-01-10

    At which height is a prominence inclined to be unstable, or where is the most probable critical height for the prominence destabilization? This question was statistically studied based on 362 solar limb prominences well recognized by Solar Limb Prominence Catcher and Tracker from 2007 April to the end of 2009. We found that there are about 71% disrupted prominences (DPs), among which about 42% of them did not erupt successfully and about 89% of them experienced a sudden destabilization process. After a comprehensive analysis of the DPs, we discovered the following: (1) Most DPs become unstable at a height of 0.06-0.14 R{sub Sun} from the solar surface, and there are two most probable critical heights at which a prominence is very likely to become unstable, the first one is 0.13 R{sub Sun} and the second one is 0.19 R{sub Sun }. (2) An upper limit for the erupting velocity of eruptive prominences (EPs) exists, which decreases following a power law with increasing height and mass; accordingly, the kinetic energy of EPs has an upper limit too, which decreases as the critical height increases. (3) Stable prominences are generally longer and heavier than DPs, and not higher than 0.4 R{sub Sun }. (4) About 62% of the EPs were associated with coronal mass ejections (CMEs); but there is no difference in apparent properties between EPs associated with CMEs and those that are not.

  3. CRITICAL HEIGHT FOR THE DESTABILIZATION OF SOLAR PROMINENCES: STATISTICAL RESULTS FROM STEREO OBSERVATIONS

    International Nuclear Information System (INIS)

    Liu Kai; Wang Yuming; Wang Shui; Shen Chenglong

    2012-01-01

    At which height is a prominence inclined to be unstable, or where is the most probable critical height for the prominence destabilization? This question was statistically studied based on 362 solar limb prominences well recognized by Solar Limb Prominence Catcher and Tracker from 2007 April to the end of 2009. We found that there are about 71% disrupted prominences (DPs), among which about 42% of them did not erupt successfully and about 89% of them experienced a sudden destabilization process. After a comprehensive analysis of the DPs, we discovered the following: (1) Most DPs become unstable at a height of 0.06-0.14 R ☉ from the solar surface, and there are two most probable critical heights at which a prominence is very likely to become unstable, the first one is 0.13 R ☉ and the second one is 0.19 R ☉ . (2) An upper limit for the erupting velocity of eruptive prominences (EPs) exists, which decreases following a power law with increasing height and mass; accordingly, the kinetic energy of EPs has an upper limit too, which decreases as the critical height increases. (3) Stable prominences are generally longer and heavier than DPs, and not higher than 0.4 R ☉ . (4) About 62% of the EPs were associated with coronal mass ejections (CMEs); but there is no difference in apparent properties between EPs associated with CMEs and those that are not.

  4. Tic Tac TOE: Effects of Predictability and Importance on Acoustic Prominence in Language Production

    Science.gov (United States)

    Watson, Duane G.; Arnold, Jennifer E.; Tanenhaus, Michael K.

    2008-01-01

    Importance and predictability each have been argued to contribute to acoustic prominence. To investigate whether these factors are independent or two aspects of the same phenomenon, naive participants played a verbal variant of Tic Tac Toe. Both importance and predictability contributed independently to the acoustic prominence of a word, but in…

  5. Heating of an Erupting Prominence Associated with a Solar Coronal Mass Ejection on 2012 January 27

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jin-Yi; Moon, Yong-Jae; Kim, Kap-Sung [Department of Astronomy and Space Science, Kyung Hee University, Yongin-si, Gyeonggi-do, 17104 (Korea, Republic of); Raymond, John C.; Reeves, Katharine K. [Harvard-Smithsonian Center for Astrophysics, Cambridge, MA 02138 (United States)

    2017-07-20

    We investigate the heating of an erupting prominence and loops associated with a coronal mass ejection and X-class flare. The prominence is seen as absorption in EUV at the beginning of its eruption. Later, the prominence changes to emission, which indicates heating of the erupting plasma. We find the densities of the erupting prominence using the absorption properties of hydrogen and helium in different passbands. We estimate the temperatures and densities of the erupting prominence and loops seen as emission features using the differential emission measure method, which uses both EUV and X-ray observations from the Atmospheric Imaging Assembly on board the Solar Dynamics Observatory and the X-ray Telescope on board Hinode . We consider synthetic spectra using both photospheric and coronal abundances in these calculations. We verify the methods for the estimation of temperatures and densities for the erupting plasmas. Then, we estimate the thermal, kinetic, radiative loss, thermal conduction, and heating energies of the erupting prominence and loops. We find that the heating of the erupting prominence and loop occurs strongly at early times in the eruption. This event shows a writhing motion of the erupting prominence, which may indicate a hot flux rope heated by thermal energy release during magnetic reconnection.

  6. 77 FR 3779 - Guidance for Industry on Product Name Placement, Size, and Prominence in Advertising and...

    Science.gov (United States)

    2012-01-25

    ... Advertising and Promotional Labeling; Availability AGENCY: Food and Drug Administration, HHS. ACTION: Notice... entitled ``Product Name Placement, Size, and Prominence in Advertising and Promotional Labeling.'' The..., prominence, and frequency in promotional labeling and advertising for prescription human and animal drugs and...

  7. Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation.

    Science.gov (United States)

    Krøigård, Anne Bruun; Clemmensen, Ole; Gjørup, Hans; Hertz, Jens Michael; Bygum, Anette

    2016-03-10

    Odonto-onycho-dermal dysplasia (OODD) is a rare form of ectodermal dysplasia characterized by severe oligodontia, onychodysplasia, palmoplantar hyperkeratosis, dry skin, hypotrichosis, and hyperhidrosis of the palms and soles. The ectodermal dysplasias resulting from biallelic mutations in the WNT10A gene result in highly variable phenotypes, ranging from isolated tooth agenesis to OODD and Schöpf-Schulz-Passarge syndrome (SSPS). We identified a female patient, with consanguineous parents, who was clinically diagnosed with OODD. Genetic testing showed that she was homozygous for a previously reported pathogenic mutation in the WNT10A gene, c.321C > A, p.Cys107*. The skin and nail abnormalities were for many years interpreted as psoriasis and treated accordingly. A thorough clinical examination revealed hypotrichosis and hyperhidrosis of the soles and dental examination revealed agenesis of permanent teeth except the two maxillary central incisors. Skin biopsies from the hyperkeratotic palms and soles showed the characteristic changes of eccrine syringofibroadenomatosis, which has been described in patients with ectodermal dysplasias. Together with a family history of tooth anomalies, this lead to the clinical suspicion of a hereditary ectodermal dysplasia. This case illustrates the challenges of diagnosing ectodermal dysplasia like OODD and highlights the relevance of interdisciplinary cooperation in the diagnosis of rare conditions.

  8. Physics of Solar Prominences: I-Spectral Diagnostics and Non-LTE Modelling

    Science.gov (United States)

    Labrosse, N.; Heinzel, P.; Vial, J.-C,; Kucera, T.; Parenti, S.; Gunar, S.; Schmieder, B.; Kilper, G.

    2010-01-01

    This review paper outlines background information and covers recent advances made via the analysis of spectra and images of prominence plasma and the increased sophistication of non-LTE (i.e. when there is a departure from Local Thermodynamic Equilibrium) radiative transfer models. We first describe the spectral inversion techniques that have been used to infer the plasma parameters important for the general properties of the prominence plasma in both its cool core and the hotter prominence-corona transition region. We also review studies devoted to the observation of bulk motions of the prominence plasma and to the determination of prominence mass. However, a simple inversion of spectroscopic data usually fails when the lines become optically thick at certain wavelengths. Therefore, complex

  9. Fabrication of micro-prominences on PTFE surface using proton beam writing

    Energy Technology Data Exchange (ETDEWEB)

    Kitamura, Akane, E-mail: ogawa.akane@jaea.go.jp [Department of Advanced Radiation Technology, Takasaki Advanced Radiation Research Institute, Japan Atomic Energy Agency, 1233 Watanuki-Machi, Takasaki, Gunma 370-1292 (Japan); Satoh, Takahiro; Koka, Masashi [Department of Advanced Radiation Technology, Takasaki Advanced Radiation Research Institute, Japan Atomic Energy Agency, 1233 Watanuki-Machi, Takasaki, Gunma 370-1292 (Japan); Kobayashi, Tomohiro [Advanced Science Institute, RIKEN, 2-1 Hirosawa, Wako-shi, Saitama 350-0198 (Japan); Kamiya, Tomihiro [Department of Advanced Radiation Technology, Takasaki Advanced Radiation Research Institute, Japan Atomic Energy Agency, 1233 Watanuki-Machi, Takasaki, Gunma 370-1292 (Japan)

    2013-07-01

    Polytetrafluoroethylene (PTFE) is a typical fluoropolymer and it has several desirable technological properties such as electrical insulation, solid lubrication etc. However, the conventional microstructuring methods have not been well applied to PTFE due to its chemical inertness. Some effective micromachining using synchrotron radiation or ion beam irradiation has been reported. In this study, we create micro-prominences by raising the original surface using proton beam writing (PBW) without chemical etching. A conical prominence was formed by spiral drawing from the center with a 3 MeV proton beam. The body was porous, and the bulk PTFE below the prominence changed to fragmented structures. With decreasing writing speed, the prominence became taller but the height peaked. The prominence gradually reduced in size after the speed reached the optimum value. We expect that these porous projections with high aspect ratio will be versatile in medical fields and microelectromechanical systems (MEMS) technology.

  10. Modeling of prominence threads in magnetic fields: Levitation by incompressible MHD waves

    Science.gov (United States)

    Pécseli, Hans; Engvold, OddbjØrn

    2000-05-01

    The nature of thin, highly inclined threads observed in quiescent prominences has puzzled solar physicists for a long time. When assuming that the threads represent truly inclined magnetic fields, the supporting mechanism of prominence plasma against gravity has remained an open issue. This paper examines the levitation of prominence plasma exerted by weakly damped MHD waves in nearly vertical magnetic flux tubes. It is shown that the wave damping, and resulting `radiation pressure', caused predominantly by ion-neutral collisions in the `cold' prominence plasma, may balance the acceleration of gravity provided the oscillation frequency is ω~ 2 rad s^-1 (f~0.5 Hz). Such short wave periods may be the result of small-scale magnetic reconnections in the highly fragmentary magnetic field of quiescent prominences. In the proposed model, the wave induced levitation acts predominantly on plasma - neutral gas mixtures.

  11. The diagnosis of skeletal dysplasias: a multidisciplinary approach

    International Nuclear Information System (INIS)

    Mortier, Geert R.

    2001-01-01

    Skeletal dysplasias are heritable connective tissue disorders affecting skeletal morphogenesis and development. They represent a heterogeneous group of genetic disorders with more than 200 different entities being delineated to date. Because of this diversity, the diagnosis of a skeletal dysplasia is usually based on a combination of clinical, radiographic, morphologic, and, in some instances, biochemical and molecular studies. Tremendous advances have been made in the elucidation of the genetic defect of several of these conditions over the past 10 years. This progress has provided us with more insights into the genes controlling normal skeletal development. It also has opened new diagnostic perspectives. For several disorders, identification of the causal gene allows us now to confirm with a molecular test the diagnosis postulated on the basis of clinical, radiographic and/or morphologic studies. It also enables us to establish the diagnosis early in pregnancy. An accurate diagnosis is not only important for proper management of the affected individual but also the cornerstone for adequate genetic counseling

  12. Histochemical Analysis of Renal Dysplasia with Ureteral Atresia

    International Nuclear Information System (INIS)

    Kawate, Toyoko; Kawamura, Ryuki; Uchida, Takenori; Takahashi, Kyosuke; Hasegawa, Tomohiro; Futamata, Haruo; Katoh, Ryohei; Takeda, Sen

    2009-01-01

    Unilateral small kidney with ureteral obstruction was discovered in a 74-year-old female cadaver during an anatomical dissection course. In order to elucidate the histogenesis of renal dysplasia, we carried out histochemical and immunohistochemical analyses. On macroscopic view, the kidney was approximately 3 cm in length, 2 cm in width and weighed only 9 g. Although the ureter ran from the renal hilus to the bladder, its width was under 2 mm. The renal parenchyma was extremely thin and there was a large congested vein in the renal sinus. On microscopic examination of the kidney, we observed that numerous developing renal tubules had cytokeratin-positive epithelia, most of which were surrounded by concentric fibrosis. However, we could not detect any structures resembling the collecting duct, renal tubules, renal pelvis, or glomeruli. The concentric mesencymal fibrous tissue surrounding the immature renal tubules contained the smooth muscles that were positive for h-caldesmon. Serial sections of the ureter revealed several small and discontinuous lacunae lined by cuboidal and transitional epithelium, which did not constitute a patent lumen through the bladder. This case is a rare case of renal dysplasia with defect in recanalization of the ureteral bud during the early developmental stage

  13. Conventional Complete Denture in Patients with Ectodermal Dysplasia

    Directory of Open Access Journals (Sweden)

    Larissa Soares Reis Vilanova

    2015-01-01

    Full Text Available Ectodermal dysplasia is described as heritable conditions that involve anomalies of structures derived from the ectoderm, including hypodontia. In the cases of edentulous young patients, who did not finish their craniofacial growth, treatment with conventional complete denture is a suitable alternative. The aim of this study was to report a case of mandibular edentulism treated with conventional complete denture in a thirteen-year-old patient diagnosed with hidrotic ectodermal dysplasia. Typical features, such as frontal bossing, depressed nasal bridge, protuberant lips, scarce hair, and brittle nails, were visualized during the extraoral examination. The intraoral inspection and radiographic analysis revealed oligodontia, dental malformation, and prolonged retention of deciduous teeth at maxilla and total edentulism at mandible. A conventional complete denture was planned and constructed following the same steps of technique as recommended in adults. Although this option is not a definitive treatment, the patient and his parents were satisfied with his improvement in chewing and speech, as well as with the aesthetic benefits.

  14. Scanning Electron Microscopic Hair Shaft Analysis in Ectodermal Dysplasia Syndromes.

    Science.gov (United States)

    Hirano-Ali, Stefanie A; Reed, Ashley M; Rowan, Brandon J; Sorrells, Timothy; Williams, Judith V; Pariser, David M; Hood, Antoinette F; Salkey, Kimberly

    2015-01-01

    The objective of the current study was to catalog hair shaft abnormalities in individuals with ectodermal dysplasia (ED) syndromes using scanning electron microscopy (SEM) and to compare the findings with those in unaffected controls. This is the second of a two-part study, the first of which used light microscopy as the modality and was previously published. Scanning electron microscopy was performed in a blinded manner on hair shafts from 65 subjects with seven types of ED syndromes and 41 unaffected control subjects. Assessment was performed along the length of the shaft and in cross section. Hair donations were collected at the 28th Annual National Family Conference held by the National Foundation for Ectodermal Dysplasia. Control subjects were recruited from a private dermatology practice and an academic children's hospital outpatient dermatology clinic. SEM identified various pathologic hair shaft abnormalities in each type of ED and in control patients. When hairs with all types of ED were grouped together and compared with those of control patients, the difference in the presence of small diameter and shallow and deep grooves was statistically significant (p < 0.05). When the EDs were separated according to subtype, statistically significant findings were also seen. SEM is a possible adjuvant tool in the diagnosis of ED syndromes. There are significant differences, with high specificity, between the hairs of individuals with ED and those of control subjects and between subtypes. © 2015 Wiley Periodicals, Inc.

  15. 2008 International Conference on Ectodermal Dysplasias Classification Conference Report

    Science.gov (United States)

    Salinas, Carlos F.; Jorgenson, Ronald J.; Wright, J. Timothy; DiGiovanna, John J.; Fete, Mary D.

    2009-01-01

    There are many ways to classify ectodermal dysplasia syndromes. Clinicians in practice use a list of syndromes from which to choose a potential diagnosis, paging through a volume, such as Freire-Maia and Pinheiro's corpus, matching their patient's findings to listed syndromes. Medical researchers may want a list of syndromes that share one (monothetic system) or several (polythetic system) traits in order to focus research on a narrowly defined group. Special interest groups may want a list from which they can choose constituencies, and insurance companies and government agencies may want a list to determine for whom to provide (or deny) health care coverage. Furthermore, various molecular biologists are now promoting classification systems based on gene mutation (e.g. TP63 associated syndromes) or common molecular pathways. The challenge will be to balance comprehensiveness within the classification with usability and accessibility so that the benefits truly serve the needs of researchers, health care providers and ultimately the individuals and families directly affected by ectodermal dysplasias. It is also recognized that a new classification approach is an ongoing process and will require periodical reviews or updates. Whatever scheme is developed, however, will have far-reaching application for other groups of disorders for which classification is complicated by the number of interested parties and advances in diagnostic acumen. Consensus among interested parties is necessary for optimizing communication among the diverse groups whether it be for equitable distribution of funds, correctness of diagnosis and treatment, or focusing research efforts. PMID:19681152

  16. Ophthalmic manifestations in patients with ectodermal dysplasia syndromes.

    Science.gov (United States)

    Keklikci, Ugur; Yavuz, Izzet; Tunik, Selcuk; Ulku, Zelal Baskan; Akdeniz, Sedat

    2014-01-01

    Ectodermal dysplasia (ED) is a disorder that results from abnormal formation of at least two of the four major ectodermal derivatives in the developing embryo. The ectoderm of the embryo forms the skin, teeth, hair and nails, sweat glands and part of the eyes. The aim of this article is to reveal ophthalmologic symptoms and signs as multidisciplinary, reliable criteria for ectodermal dysplasia. In this retrospective study, 24 patients with ED were analyzed from the recorded data. Ophthalmological examination of the patients, who had previously received the diagnosis of ED in the dental department, was done. During the examination, ocular symptoms related to tear film, corneal changes, lacrimal duct, periorbital hyperpigmentation, alteration lashes and eyebrows were evaluated. The age ranged between 3-45, and the mean and standard deviation (Mean ± SD) was 15.8 ± 7.4 years. The number of males was 13 (54.2%) and females, 11 (45.8%). Eighteen patients (75.0%) suffered from ocular complaints related to the ocular surface. In 11 of the patients with ED, there were dry eye symptoms. While the mean age of cases with eye involvement was 17.5, it was 23.1 in cases with dry eye symptoms. In the study, it was observed that, in patients with ED, ocular complaints, particularly dry eye symptoms, may increase as age advances.

  17. The diagnosis of skeletal dysplasias: a multidisciplinary approach

    Energy Technology Data Exchange (ETDEWEB)

    Mortier, Geert R. E-mail: geert.mortier@rug.ac.be

    2001-12-01

    Skeletal dysplasias are heritable connective tissue disorders affecting skeletal morphogenesis and development. They represent a heterogeneous group of genetic disorders with more than 200 different entities being delineated to date. Because of this diversity, the diagnosis of a skeletal dysplasia is usually based on a combination of clinical, radiographic, morphologic, and, in some instances, biochemical and molecular studies. Tremendous advances have been made in the elucidation of the genetic defect of several of these conditions over the past 10 years. This progress has provided us with more insights into the genes controlling normal skeletal development. It also has opened new diagnostic perspectives. For several disorders, identification of the causal gene allows us now to confirm with a molecular test the diagnosis postulated on the basis of clinical, radiographic and/or morphologic studies. It also enables us to establish the diagnosis early in pregnancy. An accurate diagnosis is not only important for proper management of the affected individual but also the cornerstone for adequate genetic counseling.

  18. Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

    Energy Technology Data Exchange (ETDEWEB)

    Unger, S.L. [Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States); Briggs, M.D.; Holden, P. [Wellcome Trust Centre for Cell-Matrix Research, University of Manchester (United Kingdom); Zabel, B. [Children' s Hospital, Univ. of Mainz (Germany); Ala-Kokko, L.; Paassilta, P.; Lohiniva, J. [Dept. of Medical Biochemistry, Univ. of Oulu (Finland); Rimoin, D.L. [Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States); Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA (United States); Lachman, R.S. [Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States); Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA (United States); Department of Radiology, UCLA School of Medicine, Los Angeles, CA (United States); Cohn, D.H. [Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Los Angeles, CA (United States); Department of Human Genetics, UCLA School of Medicine, Los Angeles, CA (United States)

    2001-01-01

    Multiple epiphyseal dysplasia (MED) is an osteochondrodysplasia characterized clinically by mild short stature and early-onset degenerative joint disease and radiographically by epiphyseal hypoplasia/dysplasia. MED is genetically heterogeneous, with autosomal dominant cases resulting from mutations in at least three genes: the cartilage oligomeric matrix protein (COMP) gene (EDM1) and the COL9A2 (EDM2) and COL9A3 (EDM3) genes of type IX procollagen. We present here a comparison of the radiographic phenotypes of MED patients with type IX collagen gene mutations and those with COMP gene mutations. We reviewed radiographs from two patients with MED produced by COMP mutations, two families with COL9A2 mutations, and one family with a mutation in COL9A3. The data demonstrated that the patients with type IX collagen defects had more severe joint involvement at the knees and relative hip sparing, while the patients with COMP mutations had significant involvement at the capital femoral epiphyses and irregular acetabuli. This pattern of joint involvement was consistent regardless of overall degree of severity of the phenotype. (orig.)

  19. Rib enlargement in premature infants with bronchopulmonary dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Hye Kyung; Han, Kim Bokyung; Chang, Yun Sil; Choo, In Wook [Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul (Korea, Republic of); Kim, Kyeong Ah [Anyang General Hospital, Anyang (Korea, Republic of)

    2000-04-01

    The purpose of this study is to describe the rib changes seen in patients with brochopulmonary dysplasia (BPD). Serial chest radiographs of nine premature infants with BPD who showed diffuse rib enlargement were reviewed for hyperinflation, which was compared with the observed degree of rib enlargement. Vibrator chest physiotherapy was performed in all cases, and five infants underwent conventional ventilation plus high frequency oscillatory ventilation therapy. Their calcium level was normal whereas alkaline phosphatase and phosphate levels were high. In all infants except one, liver enzyme levels were normal. For the treatment of patent ductus arteriosus, infection, and BPD, medications including indomethacin, antibiotics, and dexamethasone were administered. Vitamin D was given to all patients with total parenteral nutrition. Rib enlargement was found to be severe (n=3D4), moderate (n=3D3), or mild (n=3D2) with undulating margins or posterior tapering (n=3D2). Hyperinflation was noted in eight patients, in seven of whom it was moderate to severe. Among these seven, rib enlargement was severe (n=3D2), moderate (n=3D3), or mild (n=3D2). In one infant with mild hyperinflation, rib enlargement was severe. Bilateral irregular infiltrates and atelectases were noted in all patients. In BPD patients, rib enlargement may be seen. In order to differentiate this process from systemic bone disease or bony dysplasia, an awareness of the rib changes occurring in patients with BPD may be important. (author)

  20. Developmental tumors and adjacent cortical dysplasia: single or dual pathology?

    Science.gov (United States)

    Palmini, André; Paglioli, Eliseu; Silva, Vinicius Duval

    2013-12-01

    Developmental tumors often lead to refractory partial seizures and constitute a well-defined, surgically remediable epilepsy syndrome. Dysplastic features are often associated with these tumors, and their significance carries both practical and conceptual relevance. If associated focal cortical dysplasia (FCD) relates to the extent of the epileptogenic tissue, then presurgical evaluation and surgical strategies should target both the tumor and the surrounding dyslaminated cortex. Furthermore, the association has been included in the recently revised classification of FCD and the epileptogenicity of this associated dysplastic tissue is crucial to validate such revision. In addition to the possibility of representing dual pathology, the association of developmental tumors and adjacent dysplasia may instead represent a single developmental lesion with distinct parts distributed along a histopathologic continuum. Moreover, the possibility that this adjacent dyslamination is of minor epileptogenic relevance should also be entertained. Surgical data show that complete resection of the solid tumors and immediately adjacent tissue harboring satellites may disrupt epileptogenic networks and lead to high rates of seizure freedom, challenging the epileptogenic relevance of more extensive adjacent dyslaminated cortex. Whether the latter is a primary or secondary abnormality and whether dyslaminated cortex in the context of a second lesion may produce seizures after complete resection of the main lesion is still to be proven. Wiley Periodicals, Inc. © 2013 International League Against Epilepsy.

  1. Differential genetic regulation of canine hip dysplasia and osteoarthritis.

    Directory of Open Access Journals (Sweden)

    Zhengkui Zhou

    2010-10-01

    Full Text Available Canine hip dysplasia (HD is a common polygenic trait characterized by hip malformation that results in osteoarthritis (OA. The condition in dogs is very similar to developmental dysplasia of the human hip which also leads to OA.A total of 721 dogs, including both an association and linkage population, were genotyped. The association population included 8 pure breeds (Labrador retriever, Greyhounds, German Shepherd, Newfoundland, Golden retriever, Rottweiler, Border Collie and Bernese Mountain Dog. The linkage population included Labrador retrievers, Greyhounds, and their crosses. Of these, 366 dogs were genotyped at ∼22,000 single nucleotide polymorphism (SNP loci and a targeted screen across 8 chromosomes with ∼3,300 SNPs was performed on 551 dogs (196 dogs were common to both sets. A mixed linear model approach was used to perform an association study on this combined association and linkage population. The study identified 4 susceptibility SNPs associated with HD and 2 SNPs associated with hip OA.The identified SNPs included those near known genes (PTPRD, PARD3B, and COL15A1 reported to be associated with, or expressed in, OA in humans. This suggested that the canine model could provide a unique opportunity to identify genes underlying natural HD and hip OA, which are common and debilitating conditions in both dogs and humans.

  2. Rib enlargement in premature infants with bronchopulmonary dysplasia

    International Nuclear Information System (INIS)

    Yoon, Hye Kyung; Han, Kim Bokyung; Chang, Yun Sil; Choo, In Wook; Kim, Kyeong Ah

    2000-01-01

    The purpose of this study is to describe the rib changes seen in patients with brochopulmonary dysplasia (BPD). Serial chest radiographs of nine premature infants with BPD who showed diffuse rib enlargement were reviewed for hyperinflation, which was compared with the observed degree of rib enlargement. Vibrator chest physiotherapy was performed in all cases, and five infants underwent conventional ventilation plus high frequency oscillatory ventilation therapy. Their calcium level was normal whereas alkaline phosphatase and phosphate levels were high. In all infants except one, liver enzyme levels were normal. For the treatment of patent ductus arteriosus, infection, and BPD, medications including indomethacin, antibiotics, and dexamethasone were administered. Vitamin D was given to all patients with total parenteral nutrition. Rib enlargement was found to be severe (n=3D4), moderate (n=3D3), or mild (n=3D2) with undulating margins or posterior tapering (n=3D2). Hyperinflation was noted in eight patients, in seven of whom it was moderate to severe. Among these seven, rib enlargement was severe (n=3D2), moderate (n=3D3), or mild (n=3D2). In one infant with mild hyperinflation, rib enlargement was severe. Bilateral irregular infiltrates and atelectases were noted in all patients. In BPD patients, rib enlargement may be seen. In order to differentiate this process from systemic bone disease or bony dysplasia, an awareness of the rib changes occurring in patients with BPD may be important. (author)

  3. [Two cases of Kniest dysplasia--ocular manifestations].

    Science.gov (United States)

    Kagotani, Y; Takao, K; Nomura, K; Okubo, K

    1995-03-01

    We report ocular findings from 2 children with Kniest dysplasia. Both eyes of the 2 patients had abnormal long axial length causing high myopia, and vitreoretinal degeneration. The vitreous cavity of case 1 (a 15-year-old boy) which contained fibrous clouded membranous structures floating in the retrolental space and dense opacity at the temporal-inferior portion, was optically empty. Case 2 (a 7-year-old boy) had cortical and posterior subcapsular opacity of the lens, and also veil-like vitreous opacity in the periphery. Their common retinal changes were characterized as perivascular lattice degeneration and white without pressure in various degrees. They have not yet shown cataract or retinal detachment which needs surgical treatment, but close ophthalmological follow up will be necessary for their favorable prognosis. The literature on vitreoretinal degeneration such as Wagner's disease or Stickler syndrome may indicate the relation of Kniest dysplasia to similar diseases. Because they might have different clinical courses and visual prognosis according to the original biosynthetic disorders, we emphasized the importance of orthopedic diagnosis regarding such vitreoretinal degeneration with constitutional bone diseases.

  4. Bone markers in craniofacial bone deformations and dysplasias

    Directory of Open Access Journals (Sweden)

    Monika Seifert

    2015-10-01

    Full Text Available Various forms of bony deformations and dysplasias are often present in the facial skeleton. Bone defects can be either localized or general. Quite often they are not only present in the skull but also can be found in other parts of the skeleton. In many cases the presence and levels of specific bone markers should be measured in order to fully describe their activity and presence in the skeleton. Fibrous dysplasia (FD is the most common one in the facial skeleton; however, other bone deformations regarding bone growth and activity can also be present. Every clinician should be aware of all common, rare and uncommon bony diseases and conditions such as cherubism, Paget’s disease, osteogenesis imperfecta and others related to genetic conditions. We present standard (calcium, parathyroid hormone, calcitonin, alkaline phosphatase, vitamin D and specialized bone markers (pyridinium, deoxypyridinium, hydroxyproline, RANKL/RANK/OPG pathway, growth hormone, insulin-like growth hormone-1 that can be used to evaluate, measure or describe the processes occurring in craniofacial bones.

  5. TORNADO-LIKE EVOLUTION OF A KINK-UNSTABLE SOLAR PROMINENCE

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Wensi; Liu, Rui; Wang, Yuming, E-mail: rliu@ustc.edu.cn [CAS Key Laboratory of Geospace Environment, Department of Geophysics and Planetary Sciences, University of Science and Technology of China, Hefei 230026 (China)

    2017-01-01

    We report on the tornado-like evolution of a quiescent prominence on 2014 November 1. The eastern section of the prominence first rose slowly, transforming into an arch-shaped structure as high as ∼150 Mm above the limb; the arch then writhed moderately in a left-handed sense, while the original dark prominence material emitted in the Fe ix 171 Å passband, and a braided structure appeared at the eastern edge of the warped arch. The unraveling of the braided structure was associated with a transient brightening in the EUV and apparently contributed to the formation of a curtain-like structure (CLS). The CLS consisted of myriad thread-like loops rotating counterclockwise about the vertical if viewed from above. Heated prominence material was observed to slide along these loops and land outside the filament channel. The tornado eventually disintegrated and the remaining material flew along a left-handed helical path constituting approximately a full turn, as corroborated through stereoscopic reconstruction, into the cavity of the stable, western section of the prominence. We suggest that the tornado-like evolution of the prominence was governed by the helical kink instability, and that the CLS formed through magnetic reconnections between the prominence field and the overlying coronal field.

  6. Prominence-corona interface compared with the chromosphere-corona transition region

    Energy Technology Data Exchange (ETDEWEB)

    Orrall, F Q; Schmahl, E J [Harvard Coll. Observatory, Cambridge, Mass. (USA)

    1976-11-01

    The intensities of 52 EUV emission lines from each of 9 hedgerow prominences observed at the limb with the Harvard experiment on ATM-Skylab have been compared with intensities from the interior of network cells at the center of the disk, in order to compare the prominence-corona (P-C) interface with the chromosphere-corona (C-C) transition region. The intensity ratio Isub(cell)/Isub(prominence) for each line varies systematically (in all of the prominences observed), with the temperature of formation of the line as approximately Tsup(-0.6). The density sensitive C III (formed at T approximately 9x10/sup 4/ K) line ratio Isub(lambda1175)/Isub(lambda977) implies an average density 1.3x10/sup 9/ electrons cm/sup -3/ in the P-C interface and approximately 4 times this value in the C-C transition of the cells. The total optical thickness at the head of the Lyman continuum is < approximately 10 in most of the prominences studied; in two of the prominences, however, the possibility that tau/sub 0/ is large cannot be rejected. Methods of analysis of these EUV data are developed assuming both a resolved and an unresolved internal prominence structure. Although the systematic differences between the P-C interface and the C-C transition are stressed, the similarities are probably more remarkable and may be a result of fine structure in the C-C transition.

  7. Radiographic Differential Diagnosis Between The Fibrous Dysplasia And The Ossifying Fibroma

    Energy Technology Data Exchange (ETDEWEB)

    Choi, Karp Shik [Dept. of Dental Radiology, College of Dentistry, Kyungpook National University, Daegu (Korea, Republic of)

    1999-02-15

    The author observed and compared the radiographic features of 49 cases of the fibrous dysplasia and 14 cases of the ossifying fibroma in the osteoblastic or mature stage radiologically and histopathologically. The obtained results were as follows: 1. Fibrous dysplasia occurred most frequently in the 2nd decade, but ossifying fibroma in the 3rd and 4th decades, and both lesions occurred with slight predilection in females. 2. In most cases, chief complaints were painless facial swelling. And 61.1% of fibrous dysplasia occurred in the maxilla, 92.9% of ossifying fibroma in the mandible, and most of these lesions occurred in the premolar-molar region. 3. In the mandibular lesions, ossifying fibroma was shown more oval and round shape, but fibrous dysplasia was shown fusiform shape. 4. Fibrous dysplasia was shown homogeneously distributed, complete radiopaque shadow at 63%, and ossifying fibroma was shown concentric, mixed appearance of radiolucent and radiopaque shadow at 92.9%. 5. Fibrous dysplasia was entirely shown poorly outlined and blended to normal surrounding bone, but ossifying fibroma was shown well-defined border. 6. Cortical thinning and expansion were observed in these lesions, but degree of cortical expansion was more severe in ossifying fibroma than fibrous dysplasia. 7. Loss of lamina dura, tooth displacement, and displacement of mandibular canal were observed in both lesions, but root resorption was observed in ossifying fibroma only.

  8. Fibrous Dysplasia with Massive Cartilaginous Differentiation (Fibrocartilaginous Dysplasia in the Proximal Femur: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Hideo Morioka

    2016-02-01

    Full Text Available Fibrous dysplasia (FD is a monostotic or polyostotic benign bone lesion with spindle-cell proliferation in woven bone and stroma. Rarely, cartilaginous differentiation can be seen in the lesions of FD. FD with massive cartilaginous differentiation is called fibrocartilaginous dysplasia (FCD and is considered a rare variant of FD. Although pathological findings of FD show irregular immature bone formation without osteoblastic rimming in fibrous tissue, and rarely show very small amounts of cartilage, histological images of FCD are said to show that cartilage with a relatively high cell density is present in the majority and that FD-like findings are seen in parts of it. The most characteristic feature of FCD on images is calcification in the lesions reflecting cartilaginous tissue. On the other hand, typical radiographic findings of FD include shadows with a ground-glass appearance and thinning and bulging of the cortical bone, the observation if calcification is not usual. Therefore, in the diagnosis of FCD, differentiation from multiple enchondromatosis, Ollier disease, chondrosarcoma, and chondrosarcoma secondary to FD is necessary, and it seems important to make a careful diagnosis based not only on the pathological findings but also on imaging and clinical findings. Herein, we report on a case of FD of the proximal femur associated with intralesional extensive cartilaginous differentiation in which a pathological fracture occurred during follow-up, with a review of the literature.

  9. Osteosclerotic metaphyseal dysplasia: a skeletal dysplasia that may mimic lead poisoning in a child with hypotonia and seizures

    International Nuclear Information System (INIS)

    Mennel, Emilie A.; John, Susan D.

    2003-01-01

    We report the case of a 23-month-old male with hypotonia, developmental delay, and complex seizures. Radiographs revealed profound sclerosis of the metaphyses and epiphyses of the long and short bones in the extremities, with a unique pattern of distribution. Sclerosis also involved the anterior ribs, iliac crests, talus, and calcaneus. The skull and vertebral bodies appeared unaffected. Blood lead levels were normal. We believe that this constellation of clinical and radiographic abnormalities closely resembles osteosclerotic metaphyseal dysplasia (OMD) due to an autosomal recessive defect. Characteristic skeletal findings were instrumental in determining the diagnosis. OMD is a very rare sclerosing bone disorder, first described in 1993. The syndrome is characterized clinically by developmental delay of a progressive nature, hypotonia, elevated alkaline phosphatase, and late-onset spastic paraplegia. We encountered a young child with these neurologic symptoms who displayed sclerotic metaphyseal changes on hand radiographs obtained to determine the bone age. Lead poisoning, a known cause of metaphyseal sclerosis, was initially suspected. Careful analysis of the metaphyseal bone changes helped to distinguish this bone dysplasia from lead poisoning and other causes of metaphyseal sclerosis. (orig.)

  10. Motions in Prominence Barbs as observed by Hinode/SOT and IRIS

    Science.gov (United States)

    Kucera, Therese A.; Ofman, Leon; Tarbell, Theodore D.

    2016-05-01

    We discuss observations of prominence barb dynamics as observed by Hinode/SOT and IRIS. Prominence barbs extend outwards to the side of the main prominence spine and downwards towards the chromosphere. Their properties, including the structure of their magnetic field and the nature of the motions observed in them are a subject of current debate. We use a combination of high cadence, high resolution imaging, H-alpha Doppler, and Mg II line profile data to analyze and understand waves and flows in barbs and discuss their ramifications in terms of a model of the barb magnetic field as collection of dipped field lines.

  11. Maxillo-nasal dysplasia (Binder syndrome) and associated malformations of the cervical spine

    Energy Technology Data Exchange (ETDEWEB)

    Olow-Nordenram, M.A.K.; Raadberg, C.T.

    1984-01-01

    Forty-three patients with maxillo-nasal dysplasia have been subjected to a radiographic examination of the cervical spine. In 44.2 per cent malformations of the cervical vertebrae of a minor or major type were revealed. Dysplasia of the vertebral bodies related to persistence of the chorda dorsalis, a very rare malformation, was found in six cases. No correlation between the incidence or serverity of the malformations and the degree of malocclusion of the jaws and facial deformity, characteristic of Binder syndrome, were noted. The maxillo-nasal dysplasia and the spinal malformations probably have a common cause during the embryologic stage.

  12. Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafness

    Directory of Open Access Journals (Sweden)

    Akhyani Maryam

    2007-01-01

    Full Text Available The ectodermal dysplasias are a heterogeneous group of disorders with primary defect in hair, teeth, nail and sweat gland function. Numerous types have been described and several classifications exist. Here, we present a patient with ectodermal dysplasia with alopecia, dysplastic nails, hypohidrosis, sensorineural deafness, palmoplantar keratoderma, abnormal teeth and dry skin. To our knowledge, combination of all these features in ectodermal dysplasia has not been reported in the past. The etiology is unknown, but consanguinity of parents points to an autosomal recessive inheritance.

  13. Maxillo-nasal dysplasia (Binder syndrome) and associated malformations of the cervical spine

    International Nuclear Information System (INIS)

    Olow-Nordenram, M.A.K.; Raadberg, C.T.

    1984-01-01

    Forty-three patients with maxillo-nasal dysplasia have been subjected to a radiographic examination of the cervical spine. In 44.2 per cent malformations of the cervical vertebrae of a minor or major type were revealed. Dysplasia of the vertebral bodies related to persistence of the chorda dorsalis, a very rare malformation, was found in six cases. No correlation between the incidence or serverity of the malformations and the degree of malocclusion of the jaws and facial deformity, characteristic of Binder syndrome, were noted. The maxillo-nasal dysplasia and the spinal malformations probably have a common cause during the embryologic stage. (orig.)

  14. Unusual fan shaped ossification in a female fetus with radiological features of boomerang dysplasia

    Science.gov (United States)

    Odent, S.; Loget, P.; Le Marec, B.; Delezoide, A.; Maroteaux, P.

    1999-01-01

    We report on a female fetus of 24 weeks whose clinical and radiological findings were compatible with boomerang dysplasia (BD). However, histopathology was unusual with a lateral fan shaped diaphyseal ossification. This has never been described either in typical atelosteogenesis I (AT-I) or in BD. The purpose of this report is to find out if this condition is a separate lethal bone dysplasia or another histological feature of the nosological group of AT-I and BD. 


Keywords: boomerang dysplasia; atelosteogenesis; lethal chondrodysplasia; lethal dwarfism PMID:10227404

  15. Clinical, radiographic, and histological findings of florid cemento-osseous dysplasia: a case report

    International Nuclear Information System (INIS)

    Kim, Jeong Hee; Song, Byeong Chul; Kimn, Sun Ho; Park, Yang Soon

    2011-01-01

    Cemento-osseous dysplasias are a group of disorders known to originate from periodontal ligament tissue and involve, essentially, the same pathological process. They are usually classified into three main groups: periapical, florid, and focal cemental dysplasias depending on their extent and radiographic appearances. Radiographically, florid cementoosseous dysplasia (FCOD) appears as dense, lobulated masses, often symmetrically located in various regions of the jaws. The best management for the asymptomatic FCOD patient consists of regular recall examinations with prophylaxis. The management of the symptomatic patient is more difficult. A case of FCOD occurring in a 52-year-old edentulous Korean female is reported which is rare with regard to race and sex.

  16. Clinical, radiographic, and histological findings of florid cemento-osseous dysplasia: a case report.

    Science.gov (United States)

    Kim, Jeong-Hee; Song, Byeong-Chul; Kim, Sun-Ho; Park, Yang-Soon

    2011-09-01

    Cemento-osseous dysplasias are a group of disorders known to originate from periodontal ligament tissue and involve, essentially, the same pathological process. They are usually classified into three main groups: periapical, florid, and focal cemental dysplasias depending on their extent and radiographic appearances. Radiographically, florid cementoosseous dysplasia (FCOD) appears as dense, lobulated masses, often symmetrically located in various regions of the jaws. The best management for the asymptomatic FCOD patient consists of regular recall examinations with prophylaxis. The management of the symptomatic patient is more difficult. A case of FCOD occurring in a 52-year-old edentulous Korean female is reported which is rare with regard to race and sex.

  17. Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"

    Directory of Open Access Journals (Sweden)

    P K Shivaprakash

    2012-01-01

    Full Text Available Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature noted is the syndactyly of toes which is reported rarely in this syndrome. A multidisciplinary approach for treatment is needed which is co-ordinated by pedodontist or pediatrician.

  18. Massive gastrointestinal bleeding:An unusual case of asymptomatic extrarenal,visceral,fibromuscular dysplasia

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Extrarenal fibromuscular dysplasia causing gastrointestinal bleeding without other manifestations and especially sparing renal vasculature is uncommon. The diagnosis of this entity is usually made by radiographic appearance and the treatment is controversial. To our knowledge only seven cases of visceral fibromuscular dysplasia as a primary manifestation of the disease have been described, symptoms range from abdominal pain to gangrene. This is the first case of visceral fibromuscular dysplasia presenting with otherwise asymptomatic gastrointestinal bleeding, without bowel necrosis or ischemic changes. We provide a review of the literature.

  19. Overdenture restoration in a growing patient with hypohidrotic ectodermal dysplasia: a clinical report.

    Science.gov (United States)

    Pae, Ahran; Kim, Kyu; Kim, Hyeong-Seob; Kwon, Kung-Rock

    2011-03-01

    Ectodermal dysplasia is a hereditary disorder of ectodermal origin. A 12-year-old boy was referred for management of the oral manifestations of his ectodermal dysplasia. An overdenture retained by natural teeth for the maxilla and a double-crown-retained denture for the mandible were made. Double-crown-retained dentures may be modified into complete dentures if the abutment teeth are lost. The patient was instructed to maintain oral hygiene and return periodically for follow-up visits. This report describes a potential routine approach to restoring the appearance, function, and psyche of a growing boy with ectodermal dysplasia.

  20. Clinical, radiographic, and histological findings of florid cemento-osseous dysplasia: a case report

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    Kim, Jeong Hee; Song, Byeong Chul; Kimn, Sun Ho; Park, Yang Soon [Seoul Veterans Hospital, Seoul (Korea, Republic of)

    2011-09-15

    Cemento-osseous dysplasias are a group of disorders known to originate from periodontal ligament tissue and involve, essentially, the same pathological process. They are usually classified into three main groups: periapical, florid, and focal cemental dysplasias depending on their extent and radiographic appearances. Radiographically, florid cementoosseous dysplasia (FCOD) appears as dense, lobulated masses, often symmetrically located in various regions of the jaws. The best management for the asymptomatic FCOD patient consists of regular recall examinations with prophylaxis. The management of the symptomatic patient is more difficult. A case of FCOD occurring in a 52-year-old edentulous Korean female is reported which is rare with regard to race and sex.