Genetic conditions of short stature: A review of three classic examples

Butler, Merlin G.; Miller, Bradley S.; Romanò, Alicia; Ross, Judith; Abuzzahab, M. Jennifer; Backeljauw, Philippe; Bamba, Vaneeta; Bhangoo, Amrit; Mauras, Nelly; Geffner, Mitchell E.

doi:10.3389/fendo.2022.1011960

Cited by 9 publications

(2 citation statements)

References 239 publications

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“…There are also diseasesaffecting physical makeup, spanning chronic conditions (i.e., anemia, asthma, celiac disease, inflammatory bowel disease, kidney or heart insufficiency), hormonal diseases (i.e., growth or thyroid hormone disbalances) and/or rare disorders such as achondroplasia and Down, Noonan or Turner syndromes. 1,2 For example, patients diagnosed with Friedreich ataxia tend to be underweight in young age and overweight in adulthood. 3,4 Patients with different types of mucopolysaccharidoses are known to present with a short stature.…”

Section: Introductionmentioning

confidence: 99%

Body size interacts with the structure of the central nervous system: A multi-center in vivo neuroimaging study

Labounek,

Bondy,

Paulson

et al. 2024

Preprint

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Clinical research emphasizes the implementation of rigorous and reproducible study designs that rely on between-group matching or controlling for sources of biological variation such as subject's sex and age. However, corrections for body size are mostly lacking in clinical neuroimaging designs. This study investigates the importance of body size parameters in their relationship with spinal cord (SC) and brain magnetic resonance imaging (MRI) metrics. Data were derived from a cosmopolitan population of 267 healthy human adults (age 30.1+-6.6 years old, 125 females). We show that body height correlated strongly or moderately with brain gray matter (GM) volume, cortical GM volume, total cerebellar volume, brainstem volume, and cross-sectional area (CSA) of cervical SC white matter (CSA-WM; 0.44≤r≤0.62). In comparison, age correlated weakly with cortical GM volume, precentral GM volume, and cortical thickness (-0.21≥r≥-0.27). Body weight correlated weakly with magnetization transfer ratio in the SC WM, dorsal columns, and lateral corticospinal tracts (-0.20≥r≥-0.23). Body weight further correlated weakly with the mean diffusivity derived from diffusion tensor imaging (DTI) in SC WM (r=-0.20) and dorsal columns (-0.21), but only in males. CSA-WM correlated strongly or moderately with brain volumes (0.39≤r≤0.64), and weakly with precentral gyrus thickness and DTI-based fractional anisotropy in SC dorsal columns and SC lateral corticospinal tracts (-0.22≥r≥-0.25). Linear mixture of sex and age explained 26+-10% of data variance in brain volumetry and SC CSA. The amount of explained variance increased at 33+-11% when body height was added into the mixture model. Age itself explained only 2+-2% of such variance. In conclusion, body size is a significant biological variable. Along with sex and age, body size should therefore be included as a mandatory variable in the design of clinical neuroimaging studies examining SC and brain structure.

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Section: Introductionmentioning

confidence: 99%

Body size interacts with the structure of the central nervous system: A multi-center in vivo neuroimaging study

Labounek,

Bondy,

Paulson

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…Although characterized most prominently by life-threatening hyperphagia and obesity, PWS can also be accompanied by a multitude of other issues, including growth and other hormone deficiencies, behavioral problems, skin picking, abnormal body composition [3,4], and sleep disruption [5,6]. Despite the well-established burden of illness and the social costs of PWS, the only medication that has been approved by the Food and Drug Administration (FDA) for the management of this disorder is recombinant human growth hormone (rhGH), which was approved in 2000 [7,8]. However, since then, every PWS clinical trial that has reached phase 3 has failed to achieve final approval.…”

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confidence: 99%