Dystrophia Myotonica in Childhood

Abstract

MALIGNANT EFFUSIONS , JOR(intracavitary nitrogen mustard, thiotepa, etc.), but it still has a place where alternative methods fail, as they often do. The comparative merits and demerits of the various preparations of yttrium have still to be determined and checked against clinical experience. In the colloidal silicate we appear to have a substance of promise, worthy of further investigation.It is proposed to publish elsewhere full technical details of the above investigation, including physical data on dosage, post-mortem assays, activity in blood, urine, and cavitary fluid, etc. SummaryAs an alternative to radioactive gold for control of malignant pleural and peritoneal effusions, the use is described of a new compound, colloidal radioactive yttrium silicate (90Y2 (SiO3)3). A preliminary report is made of its therapeutic use in 15 cases. Out of nine cases surviving over one month, six received good palliation for 5 to 19 months. The advantages of yttrium over gold are discussed, especially the superior surface penetration of the beta-particles and the lesser radiation hazards owing to absence of penetrating gammaradiation.Thanks are due to my physicist colleagues, on whom this work depended, in particular Mr. J. C. Jones

Survey of patients with early-onset myotonic dystrophy in the San-in district, Japan

“…The occurrence of early-onset myotonic dystrophy was not generally recognized until the work of Vanier (1960). The syndrome is characterized by severe and generalized hypotonia, mental retardation and striking facial diplegia.…”

Fecondite et mortalite infantile dans la dystrophie myotonique au Saguenay-Lac-St-Jean (Quebec Canada)

“…Il est aussi très bien établi que la grande majorité des enfants atteints de la forme congénitale sont issus de mères atteintes de dystrophie myotonique ou porteuses du gène (Vanier 1960;Harper 1975a,b;O'Brien et Harper 1984b). Dès lors, la forme congénitale semble résulter de la combinaison du gène de la dystrophie myotonique et d'un quelconque facteur maternel (Harper 1989).…”

Congenital Myotonic Dystrophy

“…This phenomenon is known as genetic anticipation and leads eventually to an infant with congenital myotonic dystrophy (CDM). First described in 1960 [26], a wide clinical spectrum is recognized but the classic symptoms are hypotonia, weakness, feeding difficulties and mechanical respiratory failure requiring intubation and ventilation immediately after birth.…”