AI Article Synopsis
- Kabuki syndrome is linked to various congenital malformations, including postnatal short stature, with an unknown cause for the short stature.
- A study of 18 children with genetically confirmed Kabuki syndrome revealed that 27.8% of them had biochemical growth hormone (GH) deficiency, but this was not associated with their body mass index (BMI).
- The results indicate that growth hormone stimulation tests may not be effective in assessing GH status in children with Kabuki syndrome, as IGF-I levels did not correlate with GH peaks or deficiency diagnoses.
Article Abstract
Background/aims: Kabuki syndrome is a multiple congenital malformation syndrome with a variety of clinical features including short stature. The cause of this postnatal short stature remains unknown.
Methods: Eighteen children with genetically proven Kabuki syndrome (8 boys and 10 girls; ages 3.3-9.9 years, with a mean of 6.7 years) who underwent growth hormone (GH) stimulation tests were evaluated in a prospective study. Two GH stimulation tests were conducted, including insulin-like growth factor I (IGF-I) and IGF-binding protein 3 (IGFBP-3) serum levels. GH stimulation peaks in relation to age, sex, height, body mass index (BMI), IGF-I, and IGFBP-3 SD scores (SDS) were analyzed.
Results: Five of the 18 children (27.8%) were biochemically GH deficient. This was not correlated with BMI SDS. Of all patients, only 1 had an IGF-I below -2 SD and did not fulfill the GH deficiency criteria. The mean IGF-I level was below normal (-0.8 SD). All subjects had normal IGFBP-3 levels.
Conclusions: The utility of performing GH stimulation tests on Kabuki syndrome children as an indication of GH status in short stature is questionable. IGF-I levels did correlate neither with the GH stimulation peak nor consequently with the diagnosis of GH deficiency.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1159/000449221 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Application of EMG feedback for hand prosthesis control in high-level amputation: a case study.
Sci Rep
December 2024
Department of Health Science and Technology, Aalborg University, Aalborg, Denmark.
EMG feedback improves force control of a myoelectric hand prosthesis by conveying the magnitude of the myoelectric signal back to the users via tactile stimulation. The present study aimed to test if this method can be used by a participant with a high-level amputation, and whose muscle used for prosthesis control (pectoralis major) was not intuitively related to hand function. Vibrotactile feedback was delivered to the participant's torso, while the control was tested using EMG from three different muscles.
View Article and Find Full Text PDFElectrical excitability of neuronal networks based on the voltage threshold of electrical stimulation.
Sci Rep
December 2024
State Key Laboratory of Digital Medical Engineering, Southeast University, Nanjing, 210096, China.
Microelectrode arrays (MEAs) have been widely used in studies on the electrophysiological features of neuronal networks. In classic MEA experiments, spike or burst rates and spike waveforms are the primary characteristics used to evaluate the neuronal network excitability. Here, we introduced a new method to assess the excitability using the voltage threshold of electrical stimulation.
View Article and Find Full Text PDFFuture Applications of Central Neuromodulation and Neurophysiological Testing in Cyclic Vomiting Syndrome.
Neurogastroenterol Motil
December 2024
Center for Neurointestinal Health, Massachusetts General Hospital, Boston, Massachusetts, USA.
Background: Cyclic vomiting syndrome (CVS) is defined by its episodic patterning. Furthermore, CVS is associated with other episodic disorders such as migraine and epilepsy. Indeed, many of the medications that are known to be useful for prophylaxis and abortive therapy in CVS are also effective in preventing and aborting migraines and seizures.
View Article and Find Full Text PDFCharacteristics of Nodular Goitre and Its Correlation With Papillary Thyroid Carcinoma: A Cross-Sectional Study.
Cureus
November 2024
Department of Endocrinology and Metabolism, Linping Campus, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, CHN.
Objective To investigate the clinical characteristics of nodular goitre (NG) and the relationship between NG and papillary thyroid carcinoma (PTC). Methods A total of 282 consecutive patients suspicious for thyroid cancer were enrolled. All the patients underwent surgical resection of the thyroid.
View Article and Find Full Text PDFA sex-specific effect of M muscarinic cholinergic autoreceptor deletion on locomotor stimulation by cocaine and scopolamine.
Front Mol Neurosci
December 2024
Laboratory of Neuropsychiatry, Psychiatric Centre Copenhagen, Mental Health Services in the Capital Region of Denmark and University of Copenhagen, Copenhagen, Denmark.
Objective: Acetylcholine modulates the activity of the direct and indirect pathways within the striatum through interaction with muscarinic M and M receptors. M receptors are uniquely positioned to regulate plasticity within the direct pathway and play a substantial role in reward and addiction-related behaviors. However, the role of M receptors on cholinergic neurons has been less explored.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!