36 research outputs found
Evaluation of DSD training schools organized by cost action BM1303 "DSDnet"
Abstract Background The Differences of Sex Development network (DSDnet) aims to establish interactive relationships between clinicians, scientists, support groups and people with a difference of sex development (DSD) to improve the overall care for people affected by such condition. DSDnet has hosted three Training Schools (TSs) in Ghent, Bologna and Budapest between 2015 and 2017 with the primary purpose of providing multidisciplinary training to young professionals and encouraging ongoing activity in the field of DSD. The aim of our study was to evaluate the success and long-term effect effectiveness of these three TSs. Methods and results Eighty-seven trainees (70 women, 17 men) attended one of three TSs. The distribution of trainees according to their professional field was: 47 (54.0%) from Pediatrics/Endocrinology, 13 (14.9%) from Biology/Genetics, 12 (13.8%) from Psychology/Psychiatry and 15 (17.2%) from Surgical Professions. All trainees were asked to complete an evaluation form on the last day of the TS to gain feedback on how to improve the next one. A further survey was sent at the end of 2017 to provide information about the overall long-term impact of the TSs. Seventy-eight (89.7%) trainees completed evaluation forms at the end of the respective TSs. Replies to the subsequent survey were received from 76 (87.4%) of trainees. A total of 72/76 (94.7%) responders reported that they continue to be active in the field of DSD. The vast majority (64/68, 94.1%) reported that the TSs had enlarged their professional networks. Among the 76 respondent trainees, 11.8% (n = 9) had applied for a research grant and 10.5% (n = 8) had received a fellowship related to DSD since their TS attendance. Conclusions According to our results, the majority of TS participants continue to be active in the field of DSD and have enlarged their professional networks following participation at the TS. These findings indicate the need of this type of educational program and justify ongoing efforts to provide postgraduate multidisciplinary training in rare diseases such as DSD
Clinical implications of gait analysis in the rehabilitation of adult patients with "Prader-Willi" Syndrome: a cross-sectional comparative study ("Prader-Willi" Syndrome vs matched obese patients and healthy subjects)
<p>Abstract</p> <p>Background</p> <p>Being severely overweight is a distinctive clinical feature of Prader-Willi Syndrome (PWS). PWS is a complex multisystem disorder, representing the most common form of genetic obesity. The aim of this study was the analysis of the gait pattern of adult subjects with PWS by using three-Dimensional Gait Analysis. The results were compared with those obtained in a group of obese patients and in a group of healthy subjects.</p> <p>Methods</p> <p>Cross-sectional, comparative study: 19 patients with PWS (11 males and 8 females, age: 18–40 years, BMI: 29.3–50.3 kg/m<sup>2</sup>); 14 obese matched patients (5 males and 9 females, age: 18–40 years, BMI: 34.3–45.2 kg/m<sup>2</sup>); 20 healthy subjects (10 males and 10 females, age: 21–41 years, BMI: 19.3–25.4 kg/m<sup>2</sup>). Kinematic and kinetic parameters during walking were assessed by an optoelectronic system and two force platforms.</p> <p>Results</p> <p>PWS adult patients walked slower, had a shorter stride length, a lower cadence and a longer stance phase compared with both matched obese, and healthy subjects. Obese matched patients showed spatio-temporal parameters significantly different from healthy subjects.</p> <p>Furthermore, Range Of Motion (ROM) at knee and ankle, and plantaflexor activity of PWS patients were significantly different between obese and healthy subjects. Obese subjects revealed kinematic and kinetic data similar to healthy subjects.</p> <p>Conclusion</p> <p>PWS subjects had a gait pattern significantly different from obese patients. Despite that, both groups had a similar BMI. We suggest that PWS gait abnormalities may be related to abnormalities in the development of motor skills in childhood, due to precocious obesity. A tailored rehabilitation program in early childhood of PWS patients could prevent gait pattern changes.</p
Jeune syndrome: description of 13 cases and a proposal for follow-up protocol
Jeune syndrome (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive skeletal dysplasia characterized by a small, narrow chest and variable limb shortness with a considerable neonatal mortality as a result of respiratory distress. Renal, hepatic, pancreatic and ocular complications may occur later in life. We describe 13 cases with ages ranging from 9Â months to 22Â years. Most patients experienced respiratory problems in the first years of their life, three died, one experienced renal complications, and one had hepatic problems. With age, the thoracic malformation tends to become less pronounced and the respiratory problems decrease. The prognosis of ATD seems better than described in literature and in our opinion this justifies long term intensive treatment in the first years. We also propose a follow-up protocol for patients with ATD
The contribution of X-linked coding variation to severe developmental disorders
Over 130 X-linked genes have been robustly associated with developmental disorders, and X-linked causes have been hypothesised to underlie the higher developmental disorder rates in males. Here, we evaluate the burden of X-linked coding variation in 11,044 developmental disorder patients, and find a similar rate of X-linked causes in males and females (6.0% and 6.9%, respectively), indicating that such variants do not account for the 1.4-fold male bias. We develop an improved strategy to detect X-linked developmental disorders and identify 23 significant genes, all of which were previously known, consistent with our inference that the vast majority of the X-linked burden is in known developmental disorder-associated genes. Importantly, we estimate that, in male probands, only 13% of inherited rare missense variants in known developmental disorder-associated genes are likely to be pathogenic. Our results demonstrate that statistical analysis of large datasets can refine our understanding of modes of inheritance for individual X-linked disorders
Optimising management in Turner syndrome: from infancy to adult transfer
Turner syndrome can be defined as loss or abnormality of the second X chromosome in at least one cell line in a phenotypic female. The condition occurs in approximately 1 in every 2000 live female births,1 so that in the UK the prevalence for any year of life is in the region of 200 girls. The condition is much more common in utero, it being estimated that 1–2% of all conceptuses are affected, of whom only 1% will survive to term.2
Improved final height in Turner's syndrome following growth-promoting treatment at a single centre
Aims: To examine the final height (FH) outcome of girls with Turner's syndrome (TS) treated at a single Scottish centre (Glasgow group), to compare it with an earlier national analysis (Scottish group) and to suggest reasons for any change. Methods: Retrospective growth and treatment data for 29 Glasgow patients were compared with those of 26 Scottish patients. Results: Age at GH start (mean ± SD) was 10.1 ± 2.6 vs 12.1 ± 1.7 y (p < 0.01) in the Glasgow versus Scottish groups, with overall duration of treatment 6.2 ± 2.4 vs 3.7 ± 1.1 y (p < 0.001) and years of GH treatment before pubertal induction 2.7 ± 2.8 vs 0.3 ± 0.8 y (p < 0.001), respectively. Pubertal induction was at a similar age: 12.7 ± 1.8 vs 12.8 ± 1.8 y (ns). FH was 151.1 ± 4.6 cm in the Glasgow group compared with 142.6 ± 5.6 cm in the Scottish group (p < 0.001), with FH - projected adult height (PAH) 5.7 ± 4.6 cm vs 0.6 ± 3.6 cm (p < 0.001), respectively. Univariate analysis of the Glasgow group's FH - PAH with a number of growth and treatment variables identified no statistically significant relationships. Conclusion: This group's improved FH and FH - PAH, relative to an earlier sample, are attributed to the introduction of GH treatment from a younger age and for longer, overall and before pubertal induction. In addition, the authors believe that compliance with treatment has been enhanced by this single centre's dedicated Turner clinic and the efforts of its established "growth team". These data demonstrate that a favourable FH can be achieved using a safe and financially viable dose of GH, while inducing puberty at a "normal" age
Anthropometric foot structure of peripubescent children with excessive versus normal body mass - A cross-sectional study
Cholesteatoma has a high prevalence in Turner syndrome, highlighting the need for earlier diagnosis and the potential benefits of otoscopy training for paediatricians
<b>Aim</b><p></p>
Girls with Turner syndrome are prone to cholesteatoma, a serious suppurative middle ear disease. We aimed to confirm its high prevalence in Turner syndrome, identify risk factors and suggest possible strategies for earlier detection.<p></p>
<b>Methods</b><p></p>
We reviewed 179 girls with Turner syndrome between 1989 and 2012 to identify cases of cholesteatoma.<p></p>
<b>Results</b><p></p>
Seven girls (3.9%) had cholesteatoma (index girls) and each was compared with three age-matched girls without cholesteatoma (comparison girls). All the index girls had either the 45,X or 45,X/46X,i(Xq) karyotypes. Nine ears were initially affected, with three recurrences in two girls. Median age at first cholesteatoma presentation was 11.9 years (range: 7.5–15.2), with otorrhoea for three (range: one to seven) months in all 12 affected ears. Index girls had a significantly higher proportion of previous recurrent acute (p = 0.007) and chronic otitis media (p = 0.008), chronic perforation (p = 0.038) aural polyps (p < 0.0001) and tympanic membrane retraction (p = 0.0001) than comparison girls.<p></p>
<b>Conclusion</b><p></p>
Cholesteatoma has a high prevalence in Turner syndrome. Risk factors include 45,X and 46,XiXq karyotypes; a history of chronic otitis media, tympanic membrane retraction and persistent otorrhoea; and older age. Earlier recognition of ear disease is needed and otoscopy training for paediatricians caring for Turner syndrome patients may be beneficial