The conference will also offer specific opportunities for “clustering” knowledge, in which research and education leaders from different disciplines will present their views on the specific priorities of the SET-Plan. [ec.europa.eu]

Epicanthal folds, blepharophimosis, and hypermetropia are sometimes present. Some patients have corneal leukomas, keratoglobus, high corneal astigmatism, and dysplastic optic disks. [disorders.eyes.arizona.edu]

She served on editorial boards for AJHP, the Journal of Pharmacy Practice, and Perspectives in Pharmacy; has published a number of articles and book chapters; and has presented at many state and national meetings. [books.google.ro]

• Short Stature

  Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature. [mendelian.co]

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

  Clinical features include congenital contractures affecting mostly distal joints of upper and lower limbs, club feet, hip dislocation, short stature, and scoliosis. [preventiongenetics.com]

• Pallister-Hall Syndrome

  Autosomal dominant GLI3 7p14.1 Polydactyly, postaxial, types A1 and B 174200 165240 Autosomal dominant GLI3 7p14.1 Polydactyly, preaxial, type IV 174700 165240 Autosomal dominant GLI3 7p14.1 {Hypothalamic hamartomas, somatic} 241800 165240 GLI3 7p14.1 Pallister-Hall [mnglabs.com]

• Spine Stiffness

  Systemic Features: Patients are often short in stature with pectus excavatum, spine stiffness, highly arched palate, and club feet. Limited forearm rotation and wrist extension may be present. [disorders.eyes.arizona.edu]

• Macula

  A pigmentary retinopathy and folds in the macula with an abnormal ERG has been reported. Subnormal vision has been reported in some patients. [disorders.eyes.arizona.edu]

• Bulbous Nose

  Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature. [orpha.net]

  Bulbous nose MedGen UID: 66013 •Concept ID: C0240543 • Finding Increased volume and globular shape of the anteroinferior aspect of the nose. [ncbi.nlm.nih.gov]

  Certain facial features are linked to this condition, including unilateral ptosis, bulbous nose, and micrognathia [ 3 ]. [karger.com]

• Short Neck

  Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature. [orpha.net]

  Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, clubfeet, scoliosis and short stature. [ncbi.nlm.nih.gov]

  (a) Unilateral ptosis, strabismus, and short neck. (b) Severe right camptotactyly. (c) Left convex scoliosis. Figure 1. Patient 1. (a) Unilateral ptosis, strabismus, and short neck. (b) Severe right camptotactyly. (c) Left convex scoliosis. [mdpi.com]

• Round Face

  Round face MedGen UID: 116087 •Concept ID: C0239479 • Finding The facial appearance is more circular than usual as viewed from the front. [ncbi.nlm.nih.gov]

• Forgetful

  " – Winemaker Luisa Ponzi While you're falling in love with Ponzi Chardonnay, don't forget to order some Pinot noir too! [ponzivineyards.com]

• Meningism

  The final section, The Hospitalized Child, features chapters addressing current therapy issues for trauma, meningitis and encephalitis, injury to the preterm and term brains, status epilepticus and a host of other conditions associated with hospital care [books.google.com]

• Plasmodium Falciparum

  Falciparum, but it remains to be seen how widespread this will become, SE Asia is a common source of resistant malaria parasites. [lonelyplanet.com]

Pedigree: Autosomal dominant Autosomal recessive Treatment Treatment Options: There is no treatment for this condition. [disorders.eyes.arizona.edu]

Part IV presents congenital and developmental disorders, such as congenital femoral deficiency, hemimelias, tibial pseudoarthrosis and Blount disease, while part V rounds out the book with chapters on sequelae related to different etiologies and their treatment [books.google.com]

References High expression of the novel endothelin-converting enzyme genes, Nbla03145/ECEL1alpha and beta, is associated with favorable prognosis in human neuroblastomas. Kawamoto, T., Ohira, M., Hamano, S., Hori, T., Nakagawara, A. Int. J. [wikigenes.org]

PMID: 24782201 Prognosis Alesi V, Sessini F, Genovese S, Calvieri G, Sallicandro E, Ciocca L, Mingoia M, Novelli A, Moi P Int J Mol Sci 2021 Feb 20;22(4) doi: 10.3390/ijms22042106. [ncbi.nlm.nih.gov]

Part I covers general principles and techniques, including etiology, clinical evaluation, imaging as well as different surgical methods. [books.google.com]

Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations. Archives de Pédiatrie. 2018;25:322-26. Sucuoglu H, Ornek NI, Caglar C. [medigraphic.com]

Pretibial linear vertical creases are a rare finding associated with arthrogryposis, and the etiology of the specific condition is unknown. [onlinelibrary.wiley.com]

Arthrogryposis multiplexa congenital: an epidemiologic study of nearly 9 million births in 24 EUROCAT registers. Eur J Obstet Gynecol Reprod Biol. 2011; 159:347-50. Cassidy SB, Allanson JE. Arthrogryposis; Management of Genetics Syndromes. [medigraphic.com]

[…] advocacy organizations in the field of rare diseases Rare Disease Day 2018 was a success IRDiRC released its roadmap for 2018 Addressing challenges in the diagnosis and treatment of rare genetic diseases Spotlight on the second edition of “Rare Diseases Epidemiology [irdirc.org]

"Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus." Brain 138(Pt 2): 246-268. [ IF 10.2 ] [NCBI PubMed Entry] Yuen, M., S. A. Sandaradura, J. J. Dowling, A. S. Kostyukova, N. Moroz, K. G. [perkins.org.au]

[…] participants to network and to discuss emerging safety issues and trends, progress of aviation safety research, and to be updated on the latest research developments on key topics such as: - Reduction of Runway excursion; - Total aviation system risk prevention [ec.europa.eu]

Furthermore, DLK inhibition also prevents the spinal cord microgliosis that results from nerve injury and arises distant from the injury site. [acdbio.com]

Protein coding - H7C3M0 - 5' truncation in transcript evidence prevents annotation of the start of the CDS. CDS 5' incomplete Transcript Support Level 3, when transcripts are supported by a single EST only. [ensembl.org]

The management of potentially preventable complications (joint dislocation, osteoarthritis, and scoliosis) is fundamental to ensure the quality of life of the patients. [jped.elsevier.es]

Mutations preventing regulated exon skipping in MET cause osteofibrous dysplasia. American Journal of Human Genetics, 97 (6), 837-847. Fennell, N., Foulds, N., Johnson, D. S., Wilson, L. C., Wyatt, M., Robertson, S. P., Johnson, D., Wall, S. [otago.ac.nz]