Lean Body Mass in Boys With Prader-Willi Syndrome Increases Normally During Spontaneous and Induced Puberty.

Context: Prader-Labhart-Willi syndrome (PWS) is a rare genetic disorder characterized by intellectual disability, behavioural problems, and hypothalamic dysfunction combined with specific dysmorphisms. In PWS, growth hormone treatment is given primarily to improve body composition, yet lean body mass (LBM) does not normalize. Male hypogonadism is frequent in PWS and becomes evident during puberty.

Growth, Endocrine Features, and Growth Hormone Treatment in Noonan Syndrome.

Noonan syndrome is a heterogeneous congenital disorder. The main features are typical facial features, short stature and cardiac defects. The diagnosis is clinical: in 80% of patients with Noonan syndrome a genetic defect can be shown.

Gonadal Hormone Substitution in People with Prader-Labhart-Willi Syndrome: An International Prader-Willi Syndrome Organisation Survey.

Background: Prader-Labhart-Willi syndrome (PWS) is a rare genetic disorder characterized by intellectual disability, behavioural problems, hypothalamic dysfunction, and specific dysmorphisms. Hypothalamic dysfunction causes growth hormone deficiency, dysregulation of energy balance, and hypogonadism. Although hypogonadism is prevalent in PWS, there are no clear guidelines for diagnosis and treatment.

Prader-Willi Syndrome and Hypogonadism: A Review Article.

Prader-Labhart-Willi syndrome (PWS) is a rare genetic disorder characterized by intellectual disability, behavioural problems, hypothalamic dysfunction and specific dysmorphisms. Hypothalamic dysfunction causes dysregulation of energy balance and endocrine deficiencies, including hypogonadism. Although hypogonadism is prevalent in males and females with PWS, knowledge about this condition is limited.

Comparative study of multiple thiol-based self-assembled monolayer coatings for the SERS detection of nitrite, nitrate, and perchlorate anions in water.

Raman-based sensors represent a promising solution to enable both detection and fingerprinting of anionic pollutants in the water distribution network. Due to the weak nature of Raman scattering, a signal intensity enhancement mechanism, such as surface enhanced Raman spectroscopy (SERS), is required. Given the combination of SERS being a first layer effect and the low affinity for metallic surfaces shown by anions, functionalization of the SERS substrates using positively charged self-assembled monolayers (SAMs) is required to guarantee a strong SERS signal.