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Record 1Surgical treatment of diffuse supravalvular aortic stenosis. Folliguet TA; Mace L; Dervanian P; Casasoprana A; Magnier S; Neveux JY Department of Cardio-Vascular and Pediatric Cardiac Surgery, Centre Chirurgical Marie-Lannelongue, Le Plessis Robinson, France. Ann Thorac Surg (UNITED STATES) Apr 1996, 61 (4) p1251-3, ISSN 0003-4975 Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW OF REPORTED CASES
Diffuse supravalvular aortic stenosis can be treated by a variety of surgical approaches. In this case of severe diffuse supravalvular aortic stenosis in a child, we used the combination of an apicoaortic conduit followed 6 years later by aortic valve replacement, replacement of the ascending aorta and aortic arch, and an ascending to thoracic descending aorta bypass graft. (4 Refs.)
Record 2
Noonan and Williams syndromes--basic differential diagnosis (letter) Bzduch V Clin Pediatr (Phila) (UNITED STATES) Nov 1995, 34 (11) p622-3, ISSN 0009-9228 Languages: ENGLISH Document type: LETTER
Record 3
Cognitive and affective characteristics of children with malformation syndrome (Considerazioni sulle caratteristiche cognitive e affettive del bambino con sindrome malformativa) Tosi B; Maestro S; Marcheschi M IRCCS Stella Maris, INPE Universita di Pisa. Minerva Pediatr (ITALY) Oct 1995, 47 (10) p385-92, ISSN 0026-4946 Languages: ITALIAN Summary Languages: ENGLISH Document type: JOURNAL ARTICLE English Abstract
The aim of this paper is to study the psychological and relational aspects in children suffering from specific malformative syndrome and precisely Down s., Sotos s., X-Fragile s. and Williams s. Indeed literature provides much data related to the phenotype, to the organic-biological characteristics, but little or nothing is known about the affective structure, the episodes and to the particular dynamics that emerge in he relation between the parents and the malformed child. A protocol was applied to our sample group (16 subjects). This protocol includes laboratory and instrumental tests (chromosome test, neurometabolic screening, EEG, CT or cranial MRI, cardiac and abdominal ultrasonography, ear and eye test) aspects. This evaluation is carried out through the proposal of standardized situations (psychometric tests) and a use of a freer observational setting. This permits us to understand how the child perceives himself the awareness and the image he has of himself and how able he is to integrate his illness experiences and his way of relating with the environment. The data of our observations are thus used to compile a grill for the structural diagnosis of the personality. Besides, this evaluation is flanked by the observation of the family in order to explore the psychological image that parents have of their child, his character, his good points, his bad points, his similarities, how he relates to them, any educational problems and the emotional reaction that the communication of the diagnosis has raised in them. The videotaped observations are subsequently evaluated through the application of a grill for the study of the mother-child relationship. The results obtained from the psychological research underline a reasonable heterogeneity both of the intellectual level and of the metapsychological profile. Twelve subjects were mentally retarded (5 with mild mental retardation, 7 with moderate mental retardation); the remaining 4 had a normal cognitive development (3 with Sotos s., 1 with Williams s.). Psychological disturbances are present and thus divided: light disturbances (affective immaturity, neurotic-depressive organisation) in 11 subjects. Average disturbances (dysharmonious structure, and borderline personality) in 4 subjects; severe disturbances (psychosis) in 1 subject. Besides, above all in the group of subjects with X-Fragile s. and Down s., the tendency to assume behaviour of a regressive type, also postural, emerges. Among the 4 groups it is frequent to resort to defence mechanisms of hypomaniac type, accompanied by the denial of the patient's "sick parts". Another common characteristic concerns the quality of imaginary life which is shown to be repetitive and stereotype in content. Indeed these children's play activity characterized by a limited capacity of symbolization. Instead, when the symbolic process is more developed, contents concerning a deteriorated and destructive image of the Self emerges. Through the evaluation of family dynamics what is more noticeable is that the parent-malformed child interaction appears to be quite nonstimulating and noninvolving or incoherent, lacking in harmony and empathy towards the child's inner world. Indeed we can notice a lack of both verbal and extraverbal exchange of communication and brief interactive sequences which do not usually take into account the child's proposals and an affective tonality of depressive and nonaffective type. Therefore it may be concluded a certain smoothness in the clinical expression of the syndromes considered, both as far as the cognitive deficit entity and the psychic problems are concerned. Referring to the interactive dynamics between parents and children with dismorphic syndrom it seems that the child's pathology becomes the organizational summit of the above-mentioned relational dynamics among most of the patients examined.
Record 4
Stroke in Williams syndrome. Wollack JB; Kaifer M; LaMonte MP; Rothman M Department of Pediatrics, University of Maryland School of Medicine (Baltimore) 21201-1595, USA. Stroke (UNITED STATES) Jan 1996, 27 (1) p143-6, ISSN 0039-2499 Languages: ENGLISH Document type: JOURNAL ARTICLE; REVIEW; REVIEW OF REPORTED CASES
BACKGROUND: Williams syndrome is a genetic disorder characterized by a high incidence of heart disease, arterial stenosis, and hypertension. Despite these features, cerebrovascular accidents have been described only recently and only in association with stenoses of the cerebral vasculature. CASE DESCRIPTION: A 19-year-old girl with Williams syndrome developed an acute-onset hemiparesis. MRI demonstrated an infarct involving the internal capsule and putamen. No stenotic areas were seen on angiography. CONCLUSIONS: Stroke should be considered as a possible consequence of Williams syndrome, even in the absence of stenoses of the cerebral vasculature. Comparison of this case with those previously reported in the literature emphasizes the multiplicity of features in Williams syndrome that can contribute to the risk of stroke. (20 Refs.)
Record 5
Cytogenetic testing for Williams syndrome. Jalal SM; Crifasi PA; Karnes PS; Michels VV Division of Laboratory Genetics, Mayo Clinic, Rochester, MN 55905, USA. Mayo Clin Proc (UNITED STATES) Jan 1996, 71 (1) p67-8, ISSN 0025-6196 Languages: ENGLISH Document type: JOURNAL ARTICLE
Record 6
Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome. Borg I; Delhanty JD; Baraitser M Department of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK. J Med Genet (ENGLAND) Sep 1995, 32 (9) p692-6, ISSN 0022-2593 Languages: ENGLISH Document type: JOURNAL ARTICLE
A small pilot study has been carried out in order to assess the reliability of the detection of hemizygosity at the elastin locus by fluorescence in situ hybridisation (FISH) analysis, as a diagnostic test in both classical and atypical cases of Williams syndrome (WS). Five subjects with WS and five others in whom a diagnosis could not be confirmed on clinical criteria alone were evaluated. Hemizygosity at the elastin locus by FISH analysis was detected in all classical Williams syndrome cases and in three of the five atypical subjects. Furthermore, a combination of a few specific facial features found to be present in all subjects with the elastin gene hemizygosity has been suggested to aid the index of clinical suspicion.
Record 7
Coarctation of the abdominal aorta. Bergamini TM; Bernard JD; Mavroudis C; Backer CL; Muster AJ; Richardson JD Department of Surgery, University of Louisville School of Medicine, KY 40202, USA. Ann Vasc Surg (UNITED STATES) Jul 1995, 9 (4) p352-6, ISSN 0890-5096 Languages: ENGLISH Document type: JOURNAL ARTICLE
Four patients with suprarenal coarctation of the abdominal aorta were managed from 1978 to 1993 (mean follow-up 8.75 years). Ages at the time of diagnosis were 2 months, 8 months, 4.5 years, and 15 years, respectively. Three children presented with severe hypertension, two of whom were in congestive heart failure, and the fourth child presented with a cold, ischemic leg. The 8-month-old patient had Williams syndrome (supravalvular aortic and pulmonic stenosis, bilateral renal artery stenosis and celiac artery occlusion, "elfin" facies, and mental retardation) and was treated nonoperatively. After 12 years of follow-up, he was given five medications to control hypertension, cardiac arrhythmias, and heart failure. Three patients with abdominal aortic coarctation were treated operatively and none died. Two patients underwent bypass grafting from the supraceliac aorta to the infrarenal aorta, with bilateral renal artery reconstruction in one. Postoperative arteriograms obtained 1 year or more after operation were normal in both cases. The 2-month-old patient underwent patch aortoplasty, with subsequent reoperation 1.5 years later for recurrent hypertension and heart failure with a bypass graft to the left kidney and removal of an infarcted right kidney. In all three patients, operative repair of the suprarenal aortic coarctation has resulted in long-term control of blood pressure and cardiac and renal function.
Record 8
Multifocal intracranial occlusive vasculopathy resulting in stroke: an unusual manifestation of Williams syndrome. Putman CM; Chaloupka JC; Eklund JE; Fulbright RK Interventional Neuroradiology Service, Yale University School of Medicine, New Haven, Conn 06520-8042, USA. AJNR Am J Neuroradiol (UNITED STATES) Aug 1995, 16 (7) p1536-8, ISSN 0195-6108 Languages: ENGLISH Document type: JOURNAL ARTICLE
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