Kabuki syndrome: a comprehensive clinical portrait and genetic insight.

This report details the case of a preadolescent female patient diagnosed with Kabuki syndrome, a rare genetic disorder characterised by distinctive facial features, growth delay and cognitive impairment. The patient's medical history includes perinatal complications, alongside challenges in developmental milestones, feeding and psychomotor skills since infancy, prompting further investigation. Genetic testing confirmed the diagnosis, revealing a full deletion of The patient underwent a multidisciplinary approach, addressing various aspects of her condition, which resulted in significant improvements in several areas.

Reduced sexual motivation of diabetic female rats: Restoration with insulin.

The aim of this study was to evaluate female rat sexual motivation in a model of diabetes mellitus type 1. Severe hyperglycemia was induced in ovariectomized Wistar rats by injecting streptozotocin [STZ, 100 mg/kg, i.p.

Impact of BPA on behavior, neurodevelopment and neurodegeneration.

Bisphenol A (BPA), a compound used in the manufacturing of plastics and epoxy resins, is an endocrine disruptor with significant adverse impact on the human's health. Here, we review the animal models and clinical studies as well as the molecular and cellular mechanisms that show that BPA alters the normal function of the reproductive system, metabolism, brain function and behavior and contributes to the development of certain neurodevelopmental disorders including autism spectrum and attention-deficit and hyperactivity disorders. BPA also causes aberrant cognitive function, behavioral disturbances, and neurodegenerative diseases, including Parkinson's disease, amyotrophic lateral sclerosis (ALS), and multiple sclerosis.

[Obesity, metabolic syndrome and olfactory perception].

Nowadays, it is well accepted that obesity and metabolic syndrome are diseases that constitute a global public health issue. In consequence, the interest in the study of the effects these pathologies produce in the central nervous system has greatly increased in the last decades. One of the most overlooked topics in the literature is the impact they exert in sensory systems, among which is olfaction.

Does Chronic Hyperglycemia Affect Female Rat Sexual Behavior? Differences in Paced and Non-Paced Mating.

Introduction: Diabetes mellitus has been associated with sexual dysfunction; however, in women this relationship is controversial. A study using a model of type 2 diabetes mellitus (DM2) failed to find a reduced receptivity in the non-paced mating (NPM), but the appetitive aspects of female sexual behavior have not been evaluated, for example, in the paced mating (PM) paradigm.

Aim: To evaluate all components of female sexual behavior (in NPM and PM) in a model of DM2 using ovariectomized (OVX) (treated with steroids) or intact female rats (non-OVX) in natural proestrus.