Discordant infantile encephalopathy with symmetrical thalamic calcifications in identical twins

Knaap, Marjo S. van der; Barth, P. G.

doi:10.1002/ajmg.1320520218

Cited by 7 publications

(6 citation statements)

References 21 publications

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“…A substantial part of these deformations is present in only one twin [Hall, 1996b, 2003]. Evidently, discordance for congenital deformations or malformations in an MZ twin pair may also reflect environmental origins [van der Knaap and Barth, 1994; Mohammed et al, 2004].…”

Section: Mz Twins Discordant For Chromosomal Abnormalities and Mendelmentioning

confidence: 99%

Plasma‐deposited tetraglyme surfaces greatly reduce total blood protein adsorption, contact activation, platelet adhesion, platelet procoagulant activity, and in vitro thrombus deposition

Cao

Chang

Lee

et al. 2007

J Biomedical Materials Res

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The ability of tetraethylene glycol dimethyl ether (tetraglyme) plasma deposited coatings exhibiting ultralow fibrinogen adsorption to reduce blood activation was studied with six in vitro methods, namely fibrinogen and von Willebrand's factor adsorption, total protein adsorption, clotting time in recalcified plasma, platelet adhesion and procoagulant activity, and whole blood thrombosis in a disturbed flow catheter model. Surface plasmon resonance results showed that tetraglyme surfaces strongly resisted the adsorption of all proteins from human plasma. The clotting time in the presence of tetraglyme surfaces was lengthened compared with controls, indicating a lower activation of the intrinsic coagulation cascade. Platelet adhesion and thrombin generation by adherent platelets were greatly reduced on tetraglyme-coated materials, compared with uncoated and Biospan-coated glass slides. In the in vitro disturbed blood flow model, tetraglyme plasma coated catheters had 50% less thrombus than did the uncoated catheters. Tetraglyme-coated materials thus had greatly reduced blood interactions as measured with all six methods. The improved blood compatibility of plasma-deposited tetraglyme is thus not only due to their reduced platelet adhesion and activation, but also to a generalized reduction in blood interactions.

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Section: Mz Twins Discordant For Chromosomal Abnormalities and Mendelmentioning

confidence: 99%

Plasma‐deposited tetraglyme surfaces greatly reduce total blood protein adsorption, contact activation, platelet adhesion, platelet procoagulant activity, and in vitro thrombus deposition

Cao

Chang

Lee

et al. 2007

J Biomedical Materials Res

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“…The lesions can be diagnosed by cerebral ultraso-Received: February 23,1999;revised, accepted: July 26,1999Neuropediatrics 30 (1999 300 -306 Q Hippokrates Verlag Stuttgart nography (US). showing increased echogenicity of the thalami (9, 28,34), which is the consequence of hemorrhage, infarction or calcifications (9,16,23,30,34). MRI studies report on a changed signal intensity of the thalamus, mostly in combination with signal intensity changes of the basal ganglia (4,6, 26.27).…”

Section: Introductionmentioning

confidence: 99%

“…Bilateral thalamic lesions are associated with a high mortality and morbidity (15,24,27,34). Many infants die during the neonatal period and those who survive are likely to develop serious neurological handicaps (5,9,15,24,27,28,30).…”

Section: Introductionmentioning

confidence: 99%

Unilateral Thalamic Lesions in Premature Infants: Risk Factors and Short-Term Prognosis

Wezel‐Meijler

Hummel²,

Oosting³

et al. 1999

Neuropediatrics

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The aim of the study was to assess incidence, risk factors, clinical symptomatology and short-term outcome of unilateral thalamic lesions in preterm infants, as detected by ultrasound. Sixteen preterm infants, born after a gestational age of less than 35 weeks, with a unilateral thalamic lesion, but without additional significant cerebral lesions, were included. Their follow-up data were compared to those of a selected control group consisting of healthy premature infants. In addition, the neonatal clinical data of the patients with a thalamic lesion were compared to data of the healthy control group and of a general control group, consisting of a non-selected year-cohort of preterm infants. During the study period, the incidence of unilateral thalamic lesions was 5.3% among preterm infants. Ultrasound was not able to distinguish between hemorrhagic and ischemic lesions. The infants with a unilateral thalamic lesion had a more complicated respiratory course and were ventilated significantly longer than infants without such a lesion. The infants with a thalamic lesion had disturbances in tone, persisting throughout infancy, while the healthy control group showed only transient disturbances in tone.

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“…Clinical presentation at birth is severe: low Apgar scores [1,3,4], no spontaneous movements [3,4,6], spasticity or hypertone [1,4 -6], or marked hypotonia, feeding problems caused by impaired suck and swallow [3 -6], facial diplegia and tongue fasciculations [3].…”

Section: Discussionmentioning

confidence: 99%

Symmetrical thalamic calcifications in a monozygotic twin: case report and literature review

Buldini

Drigo

Via³

et al. 2005

Brain and Development

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Discordant infantile encephalopathy with symmetrical thalamic calcifications in identical twins

Cited by 7 publications

References 21 publications

Plasma‐deposited tetraglyme surfaces greatly reduce total blood protein adsorption, contact activation, platelet adhesion, platelet procoagulant activity, and in vitro thrombus deposition

Plasma‐deposited tetraglyme surfaces greatly reduce total blood protein adsorption, contact activation, platelet adhesion, platelet procoagulant activity, and in vitro thrombus deposition

Unilateral Thalamic Lesions in Premature Infants: Risk Factors and Short-Term Prognosis

Symmetrical thalamic calcifications in a monozygotic twin: case report and literature review

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