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Artigo em Inglês | MEDLINE | ID: mdl-31479583


Sotos syndrome is an overgrowth-intellectual disability (OGID) syndrome caused by NSD1 pathogenic variants and characterized by a distinctive facial appearance, an intellectual disability, tall stature and/or macrocephaly. Other associated clinical features include scoliosis, seizures, renal anomalies, and cardiac anomalies. However, many of the published Sotos syndrome clinical descriptions are based on studies of children; the phenotype in adults with Sotos syndrome is not yet well described. Given that it is now 17 years since disruption of NSD1 was shown to cause Sotos syndrome, many of the children first reported are now adults. It is therefore timely to investigate the phenotype of 44 adults with Sotos syndrome and NSD1 pathogenic variants. We have shown that adults with Sotos syndrome display a wide spectrum of intellectual ability with functioning ranging from fully independent to fully dependent. Reproductive rates are low. In our cohort, median height in adult women is +1.9 SD and men +0.5 SD. There is a distinctive facial appearance in adults with a tall, square, prominent chin. Reassuringly, adults with Sotos syndrome are generally healthy with few new medical issues; however, lymphedema, poor dentition, hearing loss, contractures and tremor have developed in a small number of individuals.

Lymphat Res Biol ; 2018 Oct 24.
Artigo em Inglês | MEDLINE | ID: mdl-30358472


BACKGROUND: More research is needed in lymphedema management to strengthen the evidence base and ensure patients receive clinically and cost-effective treatment. It is critical that patients and clinicians are involved in prioritizing research to ensure that it reflects their needs and is not biased by commercial interests. This study aimed to set the research priorities for lymphedema management in the United Kingdom, through collaboration with patients, carers, and clinicians. METHODS AND RESULTS: Following the James Lind Alliance's methodology, a national survey was conducted to identify unanswered questions about lymphedema management from the perspective of patients, carers, and clinicians. These were collated and verified against an in-depth evidence review. Unanswered questions were formatted into broad research questions, which were prioritized by a purposive sample of patients, carers, and clinicians, using an online Delphi survey. The initial survey generated 631 submissions from 213 participants, including 108 patients, 9 carers, and 88 clinicians. Of these, 485 met inclusion criteria and were grouped into 12 overarching themes. The evidence review demonstrated that 101 submissions were answered by existing research and identified an additional 78 questions. The remaining unanswered submissions were collated into 126 broad research questions, which were prioritized over four rounds of the Delphi survey to produce the top 10 priorities. CONCLUSIONS: This study is the first to attempt to systematically identify research priorities for lymphedema management in the United Kingdom, from the perspective of patients, carers, and clinicians. The results provide guidance for researchers and funders to ensure future research meets the needs of those living with lymphedema.

Breast Cancer Res Treat ; 151(1): 121-9, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25850535


The importance of early detection of lymphoedema by arm volume measurements before surgery and repeated measurements after surgery in women undergoing axillary node clearance (ANC) in order to enable early intervention is recognised. A prospective multi-centre study was performed which studied the difference between multi-frequency bioimpedance electrical analysis (BIS) and perometer arm measurement in predicting the development of lymphoedema. Women undergoing ANC underwent pre-operative and regular post-operative measurements of arm volume by both methods. The primary endpoint is the incidence of lymphoedema (≥10 % arm volume increase compared to contralateral arm by perometer) at 2 and 5 years after ANC. The threshold for intervention in lymphoedema was also assessed. Out of 964 patients recruited, 612 had minimum 6 months follow-up data. Using 1-month post-operative measurements as baseline, perometer detected 31 patients with lymphoedema by 6 months (BIS detected 53). By 6 months, 89 % of those with no lymphoedema reported at least one symptom. There was moderate correlation between perometer and BIS at 3 months (r = 0.40) and 6 months (r = 0.60), with a sensitivity of 73 % and specificity of 84 %. Univariate and multivariate analyses revealed a threshold for early intervention of ≥5 to <10 % (p = 0.03). Threshold for early intervention to prevent progression to lymphoedema is ≥5 to <10 % but symptoms alone do not predict lymphoedema. The modest correlation between methods at 6 months indicates arm volume measurements remain gold standard, although longer term follow-up is required.

Neoplasias da Mama/patologia , Espectroscopia Dielétrica , Detecção Precoce de Câncer , Linfonodos/patologia , Linfedema/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/complicações , Neoplasias da Mama/cirurgia , Progressão da Doença , Feminino , Humanos , Excisão de Linfonodo , Linfedema/complicações , Linfedema/cirurgia , Pessoa de Meia-Idade , Período Pós-Operatório , Prognóstico , Estudos Prospectivos , Qualidade de Vida
Eur J Hum Genet ; 23(12): 1634-9, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25804399


Turner syndrome is a complex disorder caused by an absent or abnormal sex chromosome. It affects 1/2000-1/3000 live-born females. Congenital lymphoedema of the hands, feet and neck region (present in over 60% of patients) is a common and key diagnostic indicator, although is poorly described in the literature. The aim of this study was to analyse the medical records of a cohort of 19 Turner syndrome patients attending three specialist primary lymphoedema clinics, to elucidate the key features of the lymphatic phenotype and provide vital insights into its diagnosis, natural history and management. The majority of patients presented at birth with four-limb lymphoedema, which often resolved in early childhood, but frequently recurred in later life. The swelling was confined to the legs and hands with no facial or genital swelling. There was only one case of suspected systemic involvement (intestinal lymphangiectasia). The lymphoscintigraphy results suggest that the lymphatic phenotype of Turner syndrome may be due to a failure of initial lymphatic (capillary) function.

Edema/diagnóstico , Sistema Linfático/patologia , Fenótipo , Síndrome de Turner/diagnóstico , Adolescente , Adulto , Criança , Pré-Escolar , Edema/genética , Feminino , Humanos , Pessoa de Meia-Idade , Síndrome de Turner/genética