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Jain A.,Great Ormond Street Hospital for Sick Children
The Journal of hand surgery, European volume | Year: 2010

Rubinstein-Taybi Syndrome is a rare condition affecting 1:125,000 children. It is associated with short broad radially deviated thumbs, secondary to a delta proximal phalanx of the thumb. We undertook a retrospective review of seven children (13 thumbs) with Rubinstein-Taybi syndrome whose thumbs were treated using a corrective osteotomy to the delta phalanx over a 13 year period. The types of osteotomy used in the series were reverse wedge osteotomy, opening wedge osteotomy and dome shaped osteotomy. The mean preoperative radial deviation of thumbs was 68 degrees (range 45-85 degrees ). At follow up five of the 13 thumbs demonstrated some residual radial deviation. All recurrences occurred in the dome shaped osteotomy group. Our data suggest that surgery is effective in correcting the deformity, but there is a risk of incomplete correction or recurrence. Despite the recurrence the mean postoperative deformity was significantly better than preoperatively and the majority of patients families subjectively reported good function. No patient in our series has yet undergone further corrective surgery. Source

BACKGROUND:: Stüve-Wiedemann syndrome is a rare inherited condition, which is frequently fatal in infancy. Those patients who survive into childhood demonstrate a complex progressive deformity of the long bones, with high rates of recurrence after initial successful correction. Because of the rarity of the condition there is, at present, limited evidence on the most appropriate treatment. METHODS:: We describe our experience in the management of 4 patients, who underwent correction of deformity and fixation with Fassier-Duval telescopic rods. RESULTS:: In this series we have seen good correction of deformity and maintenance of alignment, with improvement in the walking ability of children treated with this technique. CONCLUSION:: Fassier-Duval rodding has a role in the prevention of recurrence of deformity and should be considered as a means to reduce the number of operative procedures required. LEVEL OF EVIDENCE:: Level IV—therapeutic. Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved. Source

Schulze-Neick I.,Great Ormond Street Hospital for Sick Children | Beghetti M.,University of Geneva
European Respiratory Review | Year: 2010

An increasing number of medical services dedicated to the diagnosis, treatment and follow-up of pulmonary hypertension (PH) in children are being established. This has, in turn, increased the need to adapt current guidelines for the treatment of PH to be more relevant to paediatric patients with PH. This article will summarise the data obtained so far from paediatric registries, national cohorts and clinical trials and discuss the best approach for developing a treatment algorithm designed for children with different types of PH. The many unanswered questions, challenges and issues relating to the PH in the paediatric population will also be discussed. © ERS. 2010. Source

Lawrie A.S.,University College London | Green L.,University College London | Mackie I.J.,University College London | Liesner R.,Great Ormond Street Hospital for Sick Children | And 3 more authors.
Journal of Thrombosis and Haemostasis | Year: 2010

The clot solubility test is the most widely used method for detection of factor (F)XIII deficiency. However, it will only detect severe deficiencies; consequently mild deficiencies and heterozygous states are probably under diagnosed. Objective: As an alternative first-line screening test, we assessed an automated quantitative ammonia release assay (QARA). Patients/methods: Inter-assay imprecision was evaluated with commercial normal and pathological control plasmas (10 replicates on each of 5 days). Using the QARA and other commercial assays a comparative assessment of congenital (FXIII range < 1-70 u dL1, n = 9) and acquired (n = 43) deficiencies was made. We also investigated the prevalence of acquired deficiencies in hospitalized patients using residual samples from adult patients (n = 1004) and from a paediatric intensive care unit (ICU, n = 56). Results: Assay imprecision was acceptably low (normal control: mean 86.6 u dL1; cv = 2.0%; pathological control: mean 27.5 u dL1; cv = 3.8%). Using an iodoacetamide blanking procedure, the QARA results (FXIII range < 1-70 u dL1) exhibited close agreement with those from an immuno-turbidometric FXIII A-subunit (FXIII-A) method. There was also good correlation (R2 0.89) between the QARA (range 20-180 u dL1), a second chromogenic assay, the FXIII-A and FXIII A+B-subunit ELISA. We found that 21% of samples from adult patients had FXIII levels < 70 u dL1 (mean normal ± 2 SD 73-161 u dL1) with 6% < 50 u dL1. Within the paediatric ICU samples, 52% were < 70 u dL1, with 21% < 50 u dL1. Conclusions: Our data demonstrates that the automated assay is sensitive, highly reproducible and the results from clinical samples suggest that acquired FXIII deficiency is a relatively common phenomenon in hospital patients after surgery and in ICU. © 2010 International Society on Thrombosis and Haemostasis. Source

Camilleri R.S.,University College London | Camilleri R.S.,University of Westminster | Scully M.,University College London | Thomas M.,University College London | And 5 more authors.
Journal of Thrombosis and Haemostasis | Year: 2012

Background: ADAMTS13 mutations play a role in thrombotic thrombocytopenic purpura (TTP) pathogenesis. Objectives: To establish a phenotype-genotype correlation in a cohort of congenital TTP patients. Patients/Methods: Clinical history and ADAMTS13 activity, antigen and anti-ADAMTS13 antibody assays were used to diagnose congenital TTP, and DNA sequencing and in vitro expression were performed to identify the functional effects of the ADAMTS13 mutations responsible. Results: Seventeen (11 novel) ADAMTS13 mutations were identified in 17 congenital TTP patients. All had severely reduced ADAMTS13 activity and antigen levels at presentation. Six patients with pregnancy-associated TTP and six patients with childhood TTP were homozygous or compound heterozygous for ADAMTS13 mutations located in the metalloprotease (MP), cysteine-rich, spacer and/or distal thrombospondin type 1 domains. The adults had TTP precipitated by pregnancy, and had overall higher antigen levels (median, 30ngmL-1; range, <10-57ngmL-1) than the children (median, 14ngmL-1; range, <10-40ngmL-1). Presentation in the neonatal period was associated with more intensive treatment requirements. The two neonates with the most severe phenotype had mutations in the first thrombospondin type 1 motif of ADAMTS13 (p.R398C, p.R409W, and p.Q436H). Using transfected HEK293T cells, we have shown that p.R398C and p.R409W block ADAMTS13 secretion, whereas p.Q436H allows secretion at reduced levels. Conclusions: This study confirms the heterogeneity of ADAMTS13 defects and an association between ADAMTS13 genotypes and TTP phenotype. © 2012 International Society on Thrombosis and Haemostasis. Source

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