From the Medical Literature - July 2000

Record  1

  [Congenital  tubular  supravalvular aortic stenosis with massive coronary
artery dilatation in a 35-year-old man]
  Kongenitale,   tubulare   supravalvulare   Aortenstenose   mit   massiver
Koronararteriendilatation bei einem 35-jahrigen Mann.
  Bischoff D; Fassbender D; Piper C; Hort W; Korfer R; Horstkotte D
  Franziskus-Hospital, Innere Medizin, Bielefeld.
  Zeitschrift fur Kardiologie (GERMANY)   Mar 2000,  89 (3) p199-205,
ISSN 0300-5860 
  Languages: GERMAN   Summary Languages: ENGLISH
  Document type: JOURNAL ARTICLE   English Abstract

  Supravalvular aortic stenosis is a rare cause of left ventricular outflow
obstruction in adults. It occurs as an isolated defect sporadically or on a
hereditary   basis   with  an  autosomal  dominant  trait  without  further
phenotypical  anomalies,  or  as  part of the Williams syndrome with mental
retardation  and multiple other anomalies. This lesion was proved to result
from  a defect of the elastin coding gene. Supravalvular aortic stenosis is
frequently  associated  with  cardiovascular  defects,  particularly of the
peripheral  pulmonary  arteries,  thoracic  aorta, carotid, subclavian, and
coronary  arteries  and the aortic valve. The coronary arteries are subject
to  an  increased  perfusion pressure leading to dilatation, tortuosity and
accelerated  arteriosclerosis.  We give details of a 35-year-old patient in
whom  a previously asymptomatic supravalvular aortic stenosis is associated
with  an  excessive  dilatation  of  the right coronary artery and the left
anterior  descending  coronary  artery as well as an ostium stenosis of the
left  common  carotid  artery. The patient did not present any phenotypical
anomalies of the Williams syndrome.

Record  2

  Search  for  coeliac  disease  susceptibility  loci  on 7q11.23 candidate
region: absence of association with the ELN17 microsatellite marker.
  Grillo R; Petronzelli F; Mora B; Bonamico M; Mazzilli MC
  Department  of  Experimental  Medicine,  University  of Rome La Sapienza,
Rome, Italy.
  Human   heredity (SWITZERLAND)   May-Jun   2000,  50   (3)  p180-3,  ISSN
0001-5652
  Languages: ENGLISH
  Document type: JOURNAL ARTICLE

  The  involvement  of  HLA  genes in the susceptibility to coeliac disease
(CD) has been well documented and represents the only consistently observed
genetic  feature  of this multifactorial disease. In the present study, the
search  for new susceptibility genes has been devoted to a candidate region
suggested  by  the  association  of  CD  with  Williams syndrome (WS). This
genetic  disorder  is due to a deletion in the 7q11.23 region that includes
the  elastin  (ELN)  gene. An increased prevalence of CD in WS patients has
been  previously  reported  and  a  case  of CD-WS is also described in the
present  study.  We  used the ELN17 microsatellite marker mapped within the
ELN  gene  to  look  for  a  possible  contribution  of  this region to the
susceptibility  to  CD.  The analysis of 74 Italian CD families provided no
evidence of association with the ELN17 marker. Copyright 2000 S. Karger AG,
Basel.

Record  3

  Genetic  evaluation  of  pervasive  developmental disorders: the terminal
22q13 deletion syndrome may represent a recognizable phenotype.
  Prasad  C; Prasad AN; Chodirker BN; Lee C; Dawson AK; Jocelyn LJ; Chudley
AE
  Section  of  Genetics  and  Metabolism, University of Manitoba, Winnipeg,
Canada. [email protected]
  Clinical genetics (DENMARK)   Feb 2000,  57 (2) p103-9,  ISSN 0009-9163
  Languages: ENGLISH
  Document type: JOURNAL ARTICLE

  The evaluation of mental retardation is always a challenge to clinicians.
The  recognition  of  specific  physical  or behavioral characteristics can
vastly  improve  diagnostic  yield.  Several  genetic  disorders  have been
identified  to  have  certain  behavioral characteristics, such as Williams
syndrome, Smith-Magenis syndrome, and the velocardiofacial syndrome (VCFS).
The  deletion  affecting the chromosome 22q in the most distal band (22q13)
appears to define yet another neurobehavioral phenotype. In addition to our
report,  there  are  about  17  other  cases  published  of this particular
deletion  syndrome.  We  describe  three  children  who  share  features of
developmental  delay  and  pervasive  behaviors  in  addition  to normal to
advanced  growth patterns. Results of cytogenetic analysis suggest that the
3  patients  share a deletion affecting the terminal 22q13 region. Two were
found  to  have  a  cryptic  deletion,  in  the  third  it  was detected by
conventional  cytogenetics.  The  cryptic deletions were demonstrated using
fluorescent  in  situ hybridization (FISH), where the control probe for the
DiGeorge/VCFS   region   was  deleted.  While  there  remain  gaps  in  our
understanding  of  this  particular  deletion  syndrome,  we  propose  that
patients  with  normal  or  advanced  growth, significantly delayed speech,
deviant development and pervasive behaviors, with minor facial dysmorphism,
be screened for this deletion.

Record  4

  Images   in   congenital  heart  disease.  Transient  intimal  aneurismal
formation during an aortogram using a pigtail catheter.
  Thomson JD; Veldtman GR; Uzun O
  Paediatric Cardiac Unit, Yorkshire Heart Centre, Leeds General Infirmary,
UK. [email protected]
  Cardiology   in  the  young (ENGLAND)   Jan  2000,  10  (1)  p73-4,  ISSN
1047-9511 
  Languages: ENGLISH
  Document type: JOURNAL ARTICLE

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