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Published in Anton Sebastian, A Dictionary of the History of Medicine, 2018
Nail-Patella Syndrome Hereditary disease due to a dominant trait. Described by K. Österreicher of Germany in 1929. It is characterized by a small or absent patella, anonychia and limitation of movement in the elbow. It was described independently by J.W. Turner of America in 1933.
Musculoskeletal (including trauma and soft tissues)
Published in Dave Maudgil, Anthony Watkinson, The Essential Guide to the New FRCR Part 2A and Radiology Boards, 2017
Dave Maudgil, Anthony Watkinson
Nail–patella syndrome has the following features. True or false? Iliac horns.Dislocated radial head.Hypoplastic patellae.Thirteen ribs.Large parietal foramina of the skull.
Association between near viewing and acute acquired esotropia in children during tablet and smartphone use
Published in Strabismus, 2022
Esther Van Hoolst, Liesbet Beelen, Ivo De Clerck, Louise Petit, Irina Balikova, Ingele Casteels, Maria Dieltiëns, Catherine Cassiman
All ten patients (eight boys and two girls) presented at our clinic with convergent strabismus and diplopia (Table 1). The onset of symptoms started between one day and two years prior and was thought to be associated with excessive tablet or smartphone use. Three children complained of an associated headache. The mean age of onset was 9.8 years (range 5–15 years). Three out of ten patients already wore spectacles (two patients with mild hyperopic correction, one patient with mild myopic correction). Two patients had a history of strabismus (esotropia): one patient was treated in the past with occlusion therapy for anisometropic amblyopia. The second patient had a history of left esotropia and secondary amblyopia. No family history of strabismus was noted, except in one patient who had a sister with esotropia. Considering their general health status, one patient had severe attention deficit hyperactivity disorder, one patient had known nail patella syndrome and one patient had genetically confirmed velocardiofacial syndrome.
The value of ultrastructural evaluation in medical renal diseases
Published in Ultrastructural Pathology, 2019
There are a number of conditions for which electron microscopy is essential for diagnosis. These include confirmation of hereditary nephropathies associated with Alport’s syndrome, hereditary onychodysplasia (Nail-patella syndrome) and collagenofibrotic glomerulopathy, thin glomerular basement membrane disease, Fabry’s disease and other lipidosis, fibrillary and immunotactoid nephropathies and other nephropathies with organized deposits, early, subtle and unusual manifestations of some diseases such as immunoglobulin light and heavy chain deposition diseases and amyloidosis. Ultrastructural evaluation is also of paramount importance in depicting fine points of diagnostic importance in cases in which light and immunofluorescence data can provide an initial morphologic diagnosis. These situations include staging of membranous nephropathy, assessment of collapsing glomerulopathy, definition, characterization, and localization of electron dense deposits in various renal compartments, distinction of de-novo from recurrent glomerulonephritis in transplanted kidneys, separation of primary from secondary membranous glomerulonephritis and several others. A number of reviews addressing the value of ultrastructural examination in renal biopsies have been published. Other ancillary diagnostic techniques that can be used at the ultrastructural level can further help to properly characterize diseases. One such technique is ultrastructural immunogold labeling which can be of great value in many different situations. Immunelectron microscopy has made its most significant contributions in the detection of early, subtle and unusual manifestations of monoclonal immunoglobulin deposition diseases, separation of hyalinotic foci from true immune complexes, assessment of co-localization of various immunologic determinants within immune complexes, identification of deposition of immunoglobulins or related components before definitive ultrastructural markers can be detected, proper characterization of nephropathies with organized deposits and in the detection of early, subtle renal manifestations in an evolving renal pathologic process.