Evaluation Of A Cohort Study Involving Thirteen - amazonia.fiocruz.br

Evaluation Of A Cohort Study Involving Thirteen Video

Short stature can be caused by nongenetic factors, such as nutrition, chronic systemic disorders, and emotional or psychosocial deprivation. A wide spectrum of SHOX variants have been identified so far.

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However, not all can be directly associated with short stature in patients. However, the number of detected variants including intronic mutations influence the splicing of SHOX either with unambiguous or unclear significance for linear growth of individuals in the group of children with short stature is still growing Thomas et al. That is why the diagnosis of the syndromes is of great importance, especially in early childhood.

The finding of an optimal balance between cost and effectivity of the testing in the population of children with short stature is still under debate especially in the children with ISS Cohen et al. This group of the patients is heterogenous and growth restriction is often isolated.

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Determination of the causes of growth failure in the patients is a challenge for clinicians as other symptoms typical for LWD might manifest later in childhood or during puberty e. However, GH treatment should start before puberty initialization. Several clinical prediction rules based on multiple anthropometric measurements Rappold et al. Thus, exclusion of the mutations in SHOX is usually indicated in clinical settings based only on short stature.

Background

Most textbooks and the previous GRS consensus on the topic of short stature recommend routine laboratory screening for occult disease in asymptomatic short children Cohen et al. Karyotyping is a standard technique for exclusion of Evaluatioj chromosome aberrations, namely TS including mosaicand MLPA and sequencing are tools for detection of subtle changes in the SHOX gene.

So our hypothesis was that the height might be good biomarker for detection of any variants in SHOX. We used a testing algorithm in children with primarily short stature for three years. The study design is retrospective.

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We assessed the positive predictive value of short stature for detection of SHOX aberrations. Endocrine and metabolic disorders were excluded before genetic diagnostic testing was performed. Bone age was estimated from X-ray stay together.]