scholarly journals Tactile Sensitivity of Women with Turner Syndrome

Author(s):  
Julia Jajor ◽  
Anna Kostiukow ◽  
Włodzimierz Samborski ◽  
Elżbieta Rostkowska ◽  
Aleksandra Śliwa ◽  
...  

Physical manifestations of Turner syndrome include short stature, a webbed neck, and a shield chest with widely spaced nipples. An aspect of the disease which has not been sufficiently explored so far is the tactile sensitivity of Turner syndrome patients. Thus, the aim of the study was to assess the threshold of tactile sensitivity on hands and feet of women suffering from Turner syndrome. Information on the participants of the study was collected on the basis of questionnaires, as well as anthropometric measurements using a skinfold caliper. Semmes-Weinstein Aesthesiometer was used to find the tactile sensitivity threshold of hands and feet of study participants. Based on the results of the study, significant differences in tactile sensitivity between women with Turner syndrome and healthy women were found. Affected women seem be more sensitive to the touch on the feet than healthy volunteers. The results of the study showed that the tactile sensitivity of women with Turner syndrome is different from that of healthy women.

1970 ◽  
Vol 9 (4) ◽  
pp. 413-415
Author(s):  
Oluwayemi I.O*,Odeyemi A.O, Ayeni T.O

Turner syndrome, a chromosomal anomaly with loss of all or part of one sex chromosome,has an incidence of 1/ 2500 female live births. Clinical signs like lymphoedema duringinfancy, or short stature and delayed puberty are common reasons to screen for Turnersyndrome. Ovarian failure occurs in almost all affected females. We present a 15 yearold girl who presented with short stature and delayed puberty. Her mother rememberedshe noticed swelling of both hands and feet during infancy but made no meaning of it.Patient’s weight and height were below the 3rd percentile and had no secondary sexualcharacteristics at presentation. Patient’s karyotype (45, XO) confirmed the diagnosis.She had low serum estradiol, small uterus and atretic ovaries. Puberty was stimulatedwith Primarin for 2 years during which she gained 3kg in weight, 4cm in height andbreast development from Tanner stage 1 to 4. Clinicians need to look out for commonclinical signs of Turner syndrome for early diagnosis, referral and management ofaffected children for optimal growth and development.Key words: Turner syndrome–adolescent–neglected–short stature


Author(s):  
G S Kadakol ◽  
Gavishiddappa Hadimani ◽  
Shankar V Patil ◽  
Rudragouda S Bulagouda

Turner syndrome (TS) is a common chromosomaldisorder. Turner syndrome (TS) also known as Ulrich–Turner syndrome, gonadal dysgenesis and 45, X, is a condition in which a female is partly or completely missing an X chromosome.The main clinical features of TS are Swollen hands and feet,Wide and webbed neck, a combination of the following symptoms may be seen in older females:Absent or incomplete development at puberty, including sparse pubic hair and small breasts broad, flat chest shaped like a shield, drooping eyelids, Turner Syndrome frequently seen  in young infants.Our case of a 10-year-old girl has TS-specific clinical hallmarks,with the symptoms of short stature, wide barred shaped chest drooping eyelids. She visited our hospital because of her neck swelling, pain in on /off condition since one month. In our study we reported both clinically & cytogenetic investigation which shows a patient is suffering from Turner Syndrome. This type of Syndrome is very rare in this region.Keywords:Turner Syndrome,   Short Stature,Chromosome Analysis


2013 ◽  
Vol 33 (1) ◽  
pp. 74-76
Author(s):  
S Basnet ◽  
A Eleena ◽  
AK Sharma

Many children are frequently brought to the paediatric clinic for evaluation of short stature. Evaluation for these children does not go beyond x-ray for bone age estimation and growth hormone analysis. Most of them are considered having constitutional or genetic cause for their short stature. However, shuttle dysmorphic features could be missed in many of them. Hence, many children might be having chromosomal anomaly as an underlying cause. We report a case of 40 months who had been evaluated several times in the past for pneumonia, otitis media and short stature is finally diagnosed to have Turner syndrome. DOI: http://dx.doi.org/10.3126/jnps.v33i1.8174 J Nepal Paediatr Soc. 2013;33(1):74-76


FLORESTA ◽  
2013 ◽  
Vol 43 (4) ◽  
pp. 525 ◽  
Author(s):  
Eduardo Silva Lopes ◽  
Pedro Caldas Britto ◽  
Erivelton Fontana Laat ◽  
Nilton César Fiedler ◽  
Thabata Palma Vieira

O objetivo deste trabalho foi realizar uma análise antropométrica de trabalhadores em atividades de implantação florestal, visando a melhoria das condições de saúde e segurança. Medidas antropométricas estáticas foram obtidas em uma amostra de 250 trabalhadores florestais que atuavam em uma empresa localizada no estado do Paraná. Os dados foram obtidos na posição em pé, sentado, da cabeça, das mãos e dos pés e analisados por meio do cálculo de percentis. Foram determinados os padrões antropométricos dos trabalhadores florestais, os limites mínimos e máximos das variáveis, e definidas as suas aplicações no dimensionamento de postos de trabalho, equipamentos e algumas ferramentas utilizadas em atividades de implantação florestal. Alguns resultados foram aplicados na análise de uma plantadora e adubadora, sendo que as medidas de altura e comprimento da pega das hastes da plantadora e adubadora não estavam compatíveis com as variáveis antropométricas dos trabalhadores no percentil de 95%, necessitando de ajustes nas ferramentas para evitar problemas de desconforto no trabalho e possíveis danos à saúde e segurança dos trabalhadores.Palavras-chave: Implantação florestal; antropometria; saúde; segurança. AbstractAnthropometric analysis of workers in forest planting operations. This research aims to evaluate the anthropometric measures of the workers in forest planting operations, to improve health and safety conditions. We obtained static anthropometric measurements from a sample of 250 forest workers who worked in a company located in Paraná State. The data obtained refers to standing and sitting positions, besides head, hands and feet and analyzed by percentile calculations. It was determined the anthropometrics patterns of workers, the minimum and maximum limits of the variables and select their applications in the design of jobs, equipment and some tools for forest planting activities. Measurements of height and length of the handle stem planter and fertilizer weren´t compatible with the anthropometric variables of workers at the 95% percentile, requiring adjustments to avoid problems of discomfort at work and possible damage to the health and safety of workers.Keywords: Forest planting; anthropometry; health; safety.


Author(s):  
Anna Krawczyk

Turner syndrome (TS) is a chromosomal abnormality that affects exclusively girls and always results in a short stature . This article is based on an ethnographic research whose main objective was to look into the narratives and daily practices of Polish girls diagnosed with TS . The article describes strategies adopted towards the bodily manifes- tations of TS in everyday life of Polish teenagers diagnosed with this condition . In this paper, I explore the meanings and practices around normalization of Turner Syndrome which are being negotiated in the process of socialization of children with TS .    


Author(s):  
Gerhard Binder ◽  
Laura Frank ◽  
Julian Ziegler ◽  
Gunnar Blumenstock ◽  
Roland Schweizer

AbstractBackground:Knowledge concerning energy metabolism in Turner syndrome (TS) is lacking. We compared the resting energy expenditure per fat-free mass (REE/FFM) in TS with other girls with short stature treated with growth hormone (GH) and age-related controls.Methods:We measured prospectively REE by spirometry under fasting conditions in the morning in 85 short prepubertal girls at the start of GH treatment. Diagnoses were TS (n=20), GH deficiency (GHD) (n=38) and small for gestational age (SGA) short stature (n=27). Additionally, 20 age-related controls were studied. Mean ages were 8.3 (TS), 7.1 (GHD), 6.9 (SGA) and 8.5 years (controls). Mean heights were −2.90 (TS), −3.32 (GHD), −3.69 (SGA) and −0.03 standard deviation scores (SDS) (controls). FFM was measured by bioelectrical impedance analysis (BIA).Results:At the start of GH girls with TS showed insignificantly higher REE per FFM (REE/FFM) (mean±SD; 65±9 kcal/kg×day) than did the other female patients (62±9 kcal/kg×day) (p>0.23). The healthy controls had significantly lower REE/FFM (35±4 kcal/kg×day) (p<0.001). Follow-up examination of the patients after 6 or 12 months revealed decreasing REE/FFM in TS (62±9 kcal/kg×day) resulting in comparable REE/FFM in all three patient groups.Conclusions:At baseline short girls with TS had insignificantly higher REE/FFM than short children with SGA or GHD, but in follow-up this difference was not detectable any more. Future studies are necessary to understand this observation.


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