Publications by authors named "J S Acierno"

Article Synopsis
  • - The study investigates the genetic causes of congenital hypogonadotropic hypogonadism (CHH), a rare disorder linked to deficiencies in gonadotropin-releasing hormone (GnRH), in six families from Pakistan.
  • - Researchers used genome sequencing to identify pathogenic single nucleotide variants and copy number variants, discovering novel mutations in known CHH-related genes such as GNRHR and KISS1R in four families, while two others had significant deletions in the ANOS1 gene.
  • - The findings highlight the importance of using a comprehensive analysis of genetic variants to enhance diagnostic accuracy for CHH patients.
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Moral judgement requires representing what is possible: judging that someone ought to do something implies that they actually can do that thing; and if they cannot do that thing, then it is not the case that they ought to have done it. Moral judgements are often made quickly and effortlessly, suggesting that they may rely on default, rather than deliberative, representations of what is possible. To investigate this possibility, we asked participants to make 10 different kinds of moral judgements either very fast or more slowly about 240 different actions across 12 contexts.

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The nitric oxide (NO) signaling pathway in hypothalamic neurons plays a key role in the regulation of the secretion of gonadotropin-releasing hormone (GnRH), which is crucial for reproduction. We hypothesized that a disruption of neuronal NO synthase (NOS1) activity underlies some forms of hypogonadotropic hypogonadism. Whole-exome sequencing was performed on a cohort of 341 probands with congenital hypogonadotropic hypogonadism to identify ultrarare variants in .

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At the present time, no viable treatment exists for cognitive and olfactory deficits in Down syndrome (DS). We show in a DS model (Ts65Dn mice) that these progressive nonreproductive neurological symptoms closely parallel a postpubertal decrease in hypothalamic as well as extrahypothalamic expression of a master molecule that controls reproduction-gonadotropin-releasing hormone (GnRH)-and appear related to an imbalance in a microRNA-gene network known to regulate GnRH neuron maturation together with altered hippocampal synaptic transmission. Epigenetic, cellular, chemogenetic, and pharmacological interventions that restore physiological GnRH levels abolish olfactory and cognitive defects in Ts65Dn mice, whereas pulsatile GnRH therapy improves cognition and brain connectivity in adult DS patients.

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The Spanish and Portuguese-Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) has organized a second collaborative exercise on a simulated case of Disaster Victim Identification (DVI), with the participation of eighteen laboratories. The exercise focused on the analysis of a simulated plane crash case of medium-size resulting in 66 victims with varying degrees of fragmentation of the bodies (with commingled remains). As an additional difficulty, this second exercise included 21 related victims belonging to 6 families among the 66 missings to be identified.

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