SYNGAP1-related developmental and epileptic encephalopathy: The impact on daily life.

SYNGAP1-developmental and epileptic encephalopathy (SYNGAP1-DEE) has been recently featured as a distinct genetic disease characterized by global psychomotor delay mainly involving language, moderate-to-severe cognitive impairment, autism spectrum disorder, and a generalized epilepsy with spontaneous and reflex seizures. The severity and variability of function impairment and the impact on patients' and caregivers' daily life are still poorly acknowledged. The SYNGAP1 Italian Family Association developed a survey, shared online with caregivers, exploring several issues, including: epilepsy outcome, comorbidities, daily-living skills, hospitalizations, rehabilitation treatments, economic burden, and COVID-19 pandemic impact.

A novel de novo partial xq duplication in a girl with short stature, nonverbal learning disability and diminished ovarian reserve - effect of growth hormone treatment and fertility preservation strategies: a case report and up-to-date review.

Background: Xq duplication is a rare condition with a very variable phenotype, which could mimic other genetic syndromes involving the long arm of chromosome X. Sometimes short stature and diminished ovarian reserve (DOR) may be present. Treatments with rGH (Recombinant growth Hormon) or with fertility preservation strategies have not been previously described.

Two masquerade presentations of retinoblastoma.

Masquerade syndromes are disorders occurring with intraocular inflammation misdiagnosed as uveitis. The underlying causes may be benign or malignant conditions, and one of the most important diagnoses to take into consideration in children is retinoblastoma. We present two cases with uncertain early misdiagnosis whose definite diagnosis eventually was retinoblastoma.

Five-Year Follow-Up of a 30-Month Trial of Stability of Silicone Band Frontalis Suspension for the Treatment of Severe Unilateral Upper Eyelid Ptosis in Infants.

Purpose: To evaluate the five-year stability of frontalis suspension of the upper eyelid with a silicone band for the treatment of severe congenital ptosis in infants.

Methods: Chart review of pediatric patients with a follow-up of five years after unilateral frontalis suspension with silicone band was reviewed. Margin-reflex distance (MRD) and corneal staining were measured at different follow-up visits.

Stimulation of serotonin1B receptors induces conditioned place aversion and facilitates cocaine place conditioning in rats.

Rationale: Changes in serotonin(1B) (5-HT(1B)) receptor function appear to modify the reinforcing properties of cocaine, but the direction of this effect is not completely clear. Pharmacological stimulation of 5-HT(1B) enhanced the rewarding properties of self-administered cocaine while attenuating the threshold-reducing effect of cocaine in the intracerebral brain stimulation procedure.

Objective: The present study investigates how pharmacological modification of 5-HT(1B) receptor-mediated neurotransmission influence cocaine motivational properties in the conditioned place preference paradigm in rats.