From the Medical Literature - July 2001

Record  1

   Pathology of the diffuse variant of supravalvar aortic stenosis.
   Vaideeswar P; Shankar V; Deshpande JR; Sivaraman A; Jain N
   Department  of Pathology, Cardiovascular and Thoracic Division, Seth G.S.
Medical  College  and  K.E.M.  Hospital,  Parel,  Mumbai  400  012,  India.
[email protected]
   Cardiovascular pathology (United States)   Jan-Feb 2001,  10  (1)  p33-7,
ISSN 1054-8807   
   Languages: ENGLISH
   Document type: Journal Article
   Record type: Completed

   Supravalvar aortic stenosis is a rare congenital heart anomaly, producing
left  ventricular  outflow  tract obstruction. Of the two anatomic variants
that  have  been described, diffuse type is the rarest. We report five such
cases  in  children  between  two  months  and  nine years of age. None had
features  of  Williams  syndrome.  The  entire  aorta was involved in three
cases,  with abdominal aortic coarctation in two cases. Stenosis was mainly
due  to  involvement  of the media, which showed smooth muscle hypertrophy,
abnormal  elastic  fibers,  and  mild  collagenization. Predominant intimal
change  was  seen in one case. Pulmonary, coronary, arch, renal, and common
iliac arteries were also involved.

Record  2

   Review   of  referrals  for  the  FISH  detection  of  Williams  syndrome
highlights    the   importance   of   testing   in   supravalvular   aortic
stenosis/pulmonary stenosis.
   St Heaps L; Robson L; Smith A
   American  journal  of  medical genetics (United States)   Jan 1 2001,  98
  (1)  p109-11,  ISSN 0148-7299   
   Languages: ENGLISH
   Document type: Letter
   Record type: In Process

Record  3

   Stojanovik V; Perkins M; Howard S
   Department  of  Human  Communication  Sciences,  University of Sheffield,
Sheffield S10 2TA.
   International  journal of language & communication disorders (England)
2001,  36 Suppl  p234-9,  ISSN 1368-2822   
   Languages: ENGLISH
   Document type: Journal Article
   Record type: Completed

   Grammatical  performance  of  individuals with Williams syndrome (WS) has
been  reported  as being unimpaired, despite their comparatively low IQ and
poor general cognitive ability. Specific language impairment (SLI) is often
seen  as  the  converse  of WS, showing poor linguistic ability relative to
level  of  cognitive functioning. Detailed profiles of language functioning
in  four children with WS and four with SLI are presented which show a much
less  clear-cut  picture  than is often portrayed and suggest that children
with  WS  may  be  less  linguistically  able  than is commonly reported. A
comparison  of  results  on  standardised  tests  with  performance in real
conversations shows that not only the children with SLI but also those with
WS  have  significant  linguistic difficulties. This has clear implications
for their management by speech and language therapists.

Record  4

   Genetics  of  childhood disorders: XXVII. Genes and cognition in Williams
syndrome.
   Osborne L; Pober B
   Department  of  Medicine, University Health Network and the University of
Toronto, Canada.
   Journal  of  the  American  Academy  of Child and Adolescent Psychiatry 
(United States)   Jun 2001,  40  (6)  p732-5,  ISSN 0890-8567
Journal Code: HG5
   Languages: ENGLISH
   Document type: Journal Article
   Record type: In Process

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