Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023.

Background: Cerebral creatine deficiency disorders (CCDD) are rare diseases caused by defects in the enzymes L-arginine: glycine amidinotransferase (AGAT) or guanidinoacetate-N-methyltransferase (GAMT), which are involved in synthesis of creatine; or by a defect in the creatine transporter (CRTR), which is essential for uptake of creatine as important energy source into the target cells. Patients with CCDD can present with a variety of unspecific symptoms: global developmental delay, speech-language disorder, behavioral abnormalities and seizures. Early treatment initiation is essential in AGAT and GAMT deficiencies to achieve a favorable outcome.

Specific enhancer elements modulate phenotype plasticity and drug resistance in melanoma.

Recent studies indicate that the development of drug resistance and increased invasiveness in melanoma is largely driven by transcriptional plasticity rather than canonical coding mutations. Understanding the mechanisms behind cell identity shifts in oncogenic transformation and cancer progression is crucial for advancing our understanding of melanoma and other aggressive cancers. While distinct melanoma phenotypic states have been well characterized, the processes and transcriptional controls that enable cells to shift between these states remain largely unknown.

Use of Complementary and Integrative Medicine Among Low-Income Persons With Mental Health Disorders.

Objective: To evaluate the use of complementary and integrative medicine (CIM) among a low-income population with mental health diagnoses and to assess differences in social determinants of health (SDOH) on the basis of CIM use.

Patients And Methods: We surveyed patients with mental health diagnoses and/or substance use disorders during outpatient evaluations between August 11, 2020, and November 18, 2021, at a community behavioral health center in Rochester, MN. We measured knowledge of current CIM, interest in future use of CIM, and SDOH.

Dietary fructose enhances tumour growth indirectly via interorgan lipid transfer.

Fructose consumption has increased considerably over the past five decades, largely due to the widespread use of high-fructose corn syrup as a sweetener. It has been proposed that fructose promotes the growth of some tumours directly by serving as a fuel. Here we show that fructose supplementation enhances tumour growth in animal models of melanoma, breast cancer and cervical cancer without causing weight gain or insulin resistance.