scholarly journals Evaluating the Biomechanics of the Pediatric Foot in Turner Syndrome

2012 ◽  
Vol 102 (3) ◽  
pp. 259-263
Author(s):  
Stewart C. Morrison ◽  
Alexander Izod ◽  
Ryan Mahaffey

Turner syndrome is a genetic disorder that can present clinically with multiple concurrent comorbidities. This case report describes a 12-year-old girl with Turner syndrome who was referred for podiatric medical assessment and explores the application of optoelectronic stereophotogrammetry in the biomechanical assessment of the foot and lower limb. A four-segment kinematic foot model using 14-mm reflective markers was applied to the foot and lower limb of the patient to track motion at the tibia, rearfoot, forefoot, and hallux. Kinematic results presented in this case study illustrate evidence of excessive foot pronation throughout the stance phase of gait. Whether excessive pronation is a general characteristic of foot function in Turner syndrome remains to be confirmed, but the findings presented suggest that a comprehensive evaluation of foot biomechanics in patients with Turner syndrome may be warranted. (J Am Podiatr Med Assoc 102(3): 259–263, 2012)

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Seyedetahere Mousavi ◽  
Batool Amiri ◽  
Saidee Beigi ◽  
Mohammadreza Farzaneh

Abstract Introduction Turner syndrome is a genetic disorder in females and is the result of complete or partial loss of an X chromosome during fertilization. The missing X chromosome is originally either from the mother's ovum or the father's sperm cell. Approximately 45% of patients have the 45,X karyotype and the rest have other variants of Turner syndrome, which are either mosaicism patterns or structural abnormalities of the X chromosome. Here, we report a case of Turner syndrome that is the fifth case of Turner syndrome with balanced Robertsonian translocation of (13;14)(q10;q10), and the sixth case with 44,X chromosomes, reported in the literature thus far. Case presentation A 10.3-year-old Persian girl was brought to our clinic by her parents, with the complaint of failure to thrive and short height. She had been examined and investigated by endocrinologists since the age of 4 years, but no definite diagnosis was made. At the time of presentation, she had been through three provocative growth hormone tests and had been on no medications for about a year. Her physical examination revealed mild retrognathia and micrognathia. Initially, she was started on somatropin treatment which, after 12 months, did not appropriately improve her height velocity. Therefore, a more thorough physical examination was performed, in which high arched palate and low posterior hairline were observed. There was also a difference between target height and patient height standard deviation scores. Karyotype study was requested, and Turner syndrome was confirmed. Conclusion The diagnosis of this case was not straightforward, both because the somatic presentations were not obvious, and because the physicians had not looked for them when performing the physical examinations. This case report introduces a rare 44,X chromosome karyotype of Turner syndrome and highlights the value in using the difference between target height and patient height standard deviation scores as a simple and inexpensive tool for diagnosis of this syndrome.


SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A341-A342
Author(s):  
Y A Yu ◽  
B V Vaughn

Abstract Introduction Turner syndrome (TS) is a common genetic disorder that affects phenotypic females with partial or complete absence of one X chromosome. It typically presents with characteristic facial appearance, neck webbing, lymphedema, linear growth failure, and ovarian insufficiency. TS is also associated with other disorders, though sleep related disorders are not commonly reported. We present a case series of pediatric patients diagnosed with TS and assess their risk for sleep disordered breathing. Methods This study utilized retrospective chart review of the electronic medical record at the University of North Carolina at Chapel Hill from April 2014 to January 2019. Only pediatric patients under the age of 18 years who had previously undergone polysomnography and carrying the diagnosis of Turner syndrome were included in this study. Polysomnography results were reviewed. Results Retrospective chart analysis yielded ten (10) patients who qualified for inclusion. The mean age was 8.3 years (age range 1-15 years). Nine (9) patients were found to have sleep disordered breathing ranging from upper airway resistance syndrome to moderate sleep apnea (AHI range 1.2 to 6.2). Six (6) patients were found to have elevated periodic limb movement indices (PLM index range 5.1 to 30). Parasomnias and hypoventilation were not seen. Conclusion Our case series illustrates that sleep disordered breathing may be more common in TS than previously realized. Eklund et al. found that females with TS had more retrognathic mandibles and maxillas, shorter mandibles, and larger cranial base angles. These findings may indicate elevated risk of sleep apnea. Further studies are needed to define the overall risk of sleep disordered breathing in TS. Support None.


2020 ◽  
Vol 26 (7) ◽  
pp. 801-809
Author(s):  
Harald Böhm ◽  
Leonhard Döderlein ◽  
Albert Fujak ◽  
Chakravarty U. Dussa

2021 ◽  
Author(s):  
Rhys Hughes ◽  
Matt Cross ◽  
Keith Stokes

ABSTRACTObjectivesLower limb posterior chain injury (PCI) is common amongst athletic populations, with multi-factorial risk factors including age, previous injury, strength measurements, range of motion and training load. Biomechanics are commonly considered in the prevention and rehabilitation of PCI by performance staff. However, there is no documented testing method to assess for associations between biomechanics and PCI. The aim of this study was to investigate whether there is an association between an easily applicable, novel biomechanical assessment tool and PCI.MethodsFifty male elite-level rugby union athletes (age 22.83±5.08) participating in the highest tier of England were tested at the start of the 2019 pre-season period and PCIs (N=48) were recorded over the 2019/20 playing season. Participants’ biomechanics were analysed using two-dimensional video analysis against an Injury Risk Score (IRS) system in the performance of the combined movement – prone hip extension and knee flexion. Participants’ biomechanics in carrying out this movement were scored against the 10-point IRS, where the more compensatory movement recorded sees an increase in an individual’s IRS. Participants’ IRS were then compared against the number of PCI sustained and Spearman’s correlation coefficient was utilised for analysis.ResultsThere is a good significant association between IRS and PCI (R=0.573, p<0.001). Linear Regression demonstrated that an increase of 1 in IRS was associated with a 35% increase in PCI incidence (R2=0.346).ConclusionA good significance between the IRS and PCI provides preliminary support for its use as an injury risk assessment tool.


2019 ◽  
Vol 30 (2) ◽  
pp. 587-596 ◽  
Author(s):  
M L Davenport ◽  
E Cornea ◽  
K Xia ◽  
J J Crowley ◽  
M W Halvorsen ◽  
...  

Abstract Turner syndrome (TS) is a genetic disorder affecting approximately 1:2000 live-born females. It results from partial or complete X monosomy and is associated with a range of clinical issues including a unique cognitive profile and increased risk for certain behavioral problems. Structural neuroimaging studies in adolescents, adults, and older children with TS have revealed altered neuroanatomy but are unable to identify when in development differences arise. In addition, older children and adults have often been exposed to years of growth hormone and/or exogenous estrogen therapy with potential implications for neurodevelopment. The study presented here is the first to test whether brain structure is altered in infants with TS. Twenty-six infants with TS received high-resolution structural MRI scans of the brain at 1 year of age and were compared to 47 typically developing female and 39 typically developing male infants. Results indicate that the typical neuroanatomical profile seen in older individuals with TS, characterized by decreased gray matter volumes in premotor, somatosensory, and parietal-occipital cortex, is already present at 1 year of age, suggesting a stable phenotype with origins in the prenatal or early postnatal period.


2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Freddy Sichting ◽  
Nicholas B. Holowka ◽  
Oliver B. Hansen ◽  
Daniel E. Lieberman

Abstract Although most features of modern footwear have been intensively studied, there has been almost no research on the effects of toe springs. This nearly ubiquitous upward curvature of the sole at the front of the shoe elevates the toe box dorsally above the ground and thereby holds the toes in a constantly dorsiflexed position. While it is generally recognized that toe springs facilitate the forefoot’s ability to roll forward at the end of stance, toe springs may also have some effect on natural foot function. This study investigated the effects of toe springs on foot biomechanics in a controlled experiment in which participants walked in specially-designed sandals with varying curvature in the toe region to simulate toe springs ranging from 10 to 40 degrees of curvature. Using inverse dynamics techniques, we found that toe springs alter the joint moments and work at the toes such that greater degrees of toe spring curvature resulted in lower work requirements during walking. Our results help explain why toe springs have been a pervasive feature in shoes for centuries but also suggest that toe springs may contribute to weakening of the foot muscles and possibly to increased susceptibility to common pathological conditions such as plantar fasciitis.


2014 ◽  
Vol 926-930 ◽  
pp. 1144-1147
Author(s):  
Lei Chen ◽  
Chang Niu Yang ◽  
Wen Quan Huang ◽  
Ze Gang Sun ◽  
Yu Cong Liu

To solve the rehabilitation evaluation problem of rehabilitation training, a rehabilitation evaluation method based on fuzzy comprehensive evaluation was presented for 6-DOF wearable lower limb rehabilitation robot. Relative degradation degree was introduced to represent the transformation of the actual state of rehabilitation training and the very poor rehabilitation. On the basis, Rehabilitation evaluation model was built based on fuzzy comprehensive evaluation, each layer of which was evaluated respectively, and suggests rehabilitation evaluation results of a lower limb rehabilitation robot. The instance analysis shows that the method is reasonable and effective.


Author(s):  
Geoffrey J Dowling ◽  
George S Murley ◽  
Shannon E Munteanu ◽  
Melinda M Franettovich Smith ◽  
Bradley S Neal ◽  
...  

2010 ◽  
Vol 32 (4) ◽  
pp. 619-626 ◽  
Author(s):  
Elaine Hyslop ◽  
James Woodburn ◽  
Iain B. McInnes ◽  
Ruth Semple ◽  
Lisa Newcombe ◽  
...  

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