McLaughlin J.R.,The Kennedy Center |
Lee K.R.,Gundersen Lutheran Medical Center
Journal of Arthroplasty | Year: 2016
Background: Previously, we reported the mean 16-year results of primary uncemented total hip arthroplasty using a tapered femoral component in patients <50 years. The purpose of this study was to update our previous report using the Taperloc femoral component in young patients who had been followed for a minimum of 20 years postoperatively. Methods: Between 1983 and 1990, 108 consecutive uncemented total hip arthroplasties were performed in 91 patients of age <50 years, with use of the Taperloc femoral component. Every patient was followed for a minimum of 20 years after surgery or until death. At a mean of 25 (range, 20-29 years) postoperatively, 76 patients (91 hips) were living. The Harris Hip Score, radiographic results, complications, and Kaplan-Meier survivorship were evaluated. Results: In the entire cohort of 108 hips, 9 femoral components (8%) have been revised, none for aseptic loosening. Five well-fixed stems were removed during acetabular revision, 3 stems were revised for infection, and 1 stem was exchanged because of a peroneal nerve palsy. Distal femoral osteolysis was identified around 1 hip. With failure defined as stem removal for any reason, implant survival was 90% (CI = 82-95) at 29 years. With failure defined as stem removal for aseptic loosening, implant survival was 100% at 29 years. Conclusion: Primary total hip arthroplasty with the Taperloc femoral component in young patients was associated with a high rate of survival at 29 years. © 2015 Elsevier Inc.
Gronskov K.,Center for Applied Human Molecular Genetics |
Poole R.L.,University of Southampton |
Hahnemann J.M.D.,Center for Applied Human Molecular Genetics |
Thomson J.,Yorkshire Regional Clinical Genetics Service |
And 12 more authors.
Journal of Medical Genetics | Year: 2011
Silver-Russell syndrome (SRS) is characterised by prenatal and postnatal growth retardation, dysmorphic facial features, and body asymmetry. In 35-60% of SRS cases the paternally methylated imprinting control region (ICR) upstream of the H19 gene (H19-ICR) is hypomethylated, leading to downregulation of IGF2 and bi-allelic expression of H19. H19 and IGF2 are reciprocally imprinted genes on chromosome 11p15. The expression is regulated by the imprinted methylation of the ICR, which modulates the transcription of H19 and IGF2 facilitated by enhancers downstream of H19. A promoter element of IGF2, IGF2P0, is differentially methylated equivalently to the H19-ICR, though in a small number of SRS cases this association is disrupted-that is, hypomethylation affects either H19-ICR or IGF2P0. Three pedigrees associated with hypomethylation of IGF2P0 in the probands are presented here, two with paternally derived deletions, and one with a balanced translocation of inferred paternal origin. They all have a breakpoint within the H19/IGF2 enhancer region. One proband has severe growth retardation, the others have SRS. This is the first report of paternally derived structural chromosomal mutations in 11p15 causing SRS. These cases define a novel aetiology of the growth retardation in SRS, namely, dissociation of IGF2 from its enhancers. © 2011 by the BMJ Publishing Group Ltd.
Schrade C.,The Kennedy Center |
Tronsky L.,Albertus Magnus College |
Kaiser D.H.,Albertus Magnus College
Arts in Psychotherapy | Year: 2011
This study investigated mandala making as an effective physiological stress reducer for individuals with intellectual disability. Stress levels were measured using systolic and diastolic blood pressure and pulse. Participants (N=15) engaged in three activities, serving as their own controls: mandala making, free drawing and a neutral control condition. Findings revealed no significant differences in changes in stress measures across the three conditions, however, t-tests of blood pressure change in the mandala making condition indicated a statistically significant reduction in both diastolic and systolic pressure between the first and third reading; similar differences were not found in the other two conditions. These findings suggest that mandala making is an effective stress reducer for those with intellectual disability, however, evidence does not show it is more effective than the control conditions. Suggestions for future research are discussed. © 2011 Elsevier Inc.
Thevenon J.,University of Burgundy |
Callier P.,University of Burgundy |
Callier P.,Laboratoire Of Cytogenetique |
Poquet H.,Service de Pedopsychiatrie |
And 20 more authors.
Journal of Medical Genetics | Year: 2014
Background Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions. Methods We report for the first time seven patients with interstitial deletions at the 3q27.3q28 locus gathered through the Decipher database, and suggest this locus as a new microdeletional syndrome. Results The patients shared a recognisable facial dysmorphism and marfanoid habitus, associated with psychosis and mild to severe intellectual disability (ID). Most of the patients had no delay in gross psychomotor acquisition, but had severe impaired communicative and adaptive skills. Two small regions of overlap were defined. The first one, located on the 3q27.3 locus and common to all patients, was associated with psychotic troubles and mood disorders as well as recognisable facial dysmorphism. This region comprised several candidate genes including SST, considered a candidate for the neuropsychiatric findings because of its implication in interneuronal migration and differentiation processes. A familial case with a smaller deletion allowed us to define a second region of overlap at the 3q27.3q28 locus for marfanoid habitus and severe ID. Indeed, the common morphological findings in the first four patients included skeletal features from the marfanoid spectrum: scoliosis (4/4), long and thin habitus with leanness (average Body Mass Index of 15 (18.5
Sehested L.T.,Roskilde Hospital |
Moller R.S.,Danish Epilepsy Center |
Moller R.S.,Copenhagen University |
Bache I.,Copenhagen University |
And 5 more authors.
American Journal of Medical Genetics, Part A | Year: 2010
We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphism and neuropsychiatric disorders including mental retardation, language delay and epilepsy. The sister had primary amenorrhea. Array CGH revealed a 12.2 Mb deletion at 7q34-q36.2 including more than 60 genes where CNTNAP2 and NOBOX are of special interest. Comparison of the clinical and cytogenetic findings of our patients with previously reported patients, supports that haploinsuffiency of CNTNAP2 can result in language delay and/or autism spectrum disorder. Furthermore, we report on the second women with a deletion involving NOBOX who is affected by primary amenorrhea. © 2010 Wiley-Liss, Inc..