[Not Available].

Objetivo: evaluar la calidad, hábitos y algunos trastornos del sueño días previos a la declaración del fin de la pandemia por COVID-19. Método: estudio observacional de corte transversal. Encuesta en línea distribuida a través de una plataforma web desde el 1 de marzo al 15 de abril 2023.

Standardization of Dual-Energy CT Iodine Uptake of the Abdomen and Pelvis: Defining Reference Values in a Big Data Cohort.

To establish dual-energy-derived iodine density reference values in abdominopelvic organs in a large cohort of healthy subjects. : 597 patients who underwent portal venous phase dual-energy CT scans of the abdomen were retrospectively enrolled. Iodine distribution maps were reconstructed, and regions of interest measurements were placed in abdominal and pelvic structures to obtain absolute iodine values.

A single-operator experience using EchoLaser SoracteLiteTM for focal laser ablation of prostate cancer: One more arrow in the quiver for the conservative management of the disease.

Background: The aim of this study was to evaluate the outcomes of patients suffering prostate cancer (PCa) treated conservatively using 1064 nm laser energy for focal laser ablation (FLA). The patients included in the study were unsuitable for surgery or unwilling to receive external beam radiotherapy because they were afraid of the possible side effects of whole-gland therapies.

Methods: This study included patients with a diagnosis of nonmetastatic PCa who underwent FLA using SoracteLiteTM system.

[Analysis of Sleep Quality, Mood Alterations and modifications of some Habits/Behavior during two different Periods of the COVID-19 Pandemic in Argentina].

The pandemic caused by COVID-19 in the world, in its different periods, produced many changes in sleep and in various areas of mental health. Objectives: To evaluate and to compare sleep quality and aspects of mental health during two different periods of the COVID-19 pandemic, as well as to analyze some changes in habits/behaviors. Subjects and methods: A cross-sectional study was carried out, through an anonymous survey.

A comparative study of two methods for treatment of benign paroxysmal positional vertigo in the emergency department.

Introduction: Posterior canal benign paroxysmal positional vertigo (PC-BPPV) is considered the most common cause of peripheral vertigo in the emergency department (ED). Although the canalith repositioning maneuver (CRM) is the standard of care, the most effective method to deliver it in the ED has been poorly studied.

Objective: To compare two protocols of the Epley maneuver for the treatment of PC-BPPV.

The "respiratory REM sleep without atonia benefit" on coexisting REM sleep behavior disorder - obstructive sleep apnea.

Rapid eye movement sleep behavior disorder (RBD) is a parasomnia characterized by dream-enactment behaviors that emerge during a loss of REM sleep atonia. In patients with RBD, obstructive sleep apneas syndrome (OSAS) frequently occurs as a comorbid entity. It has been reported that the presence of muscle tone during REM sleep (REM sleep without atonia-RSWA) could play a protective role in patients with OSAS RBD.

A pseudo-softmax function for hardware-based high speed image classification.

In this work a novel architecture, named pseudo-softmax, to compute an approximated form of the softmax function is presented. This architecture can be fruitfully used in the last layer of Neural Networks and Convolutional Neural Networks for classification tasks, and in Reinforcement Learning hardware accelerators to compute the Boltzmann action-selection policy. The proposed pseudo-softmax design, intended for efficient hardware implementation, exploits the typical integer quantization of hardware-based Neural Networks obtaining an accurate approximation of the result.

MAP2K1-driven mixed Langerhans cell histiocytosis, Rosai-Dorfman-Destombes disease and Erdheim-Chester disease, clonally related to acute myeloid leukemia.

Mixed histiocytoses are a rare and recently recognized subset of histiocytic disorders that may involve the skin, characterized by the synchronous or metachronous development of lesions with Langerhans and/or non-Langerhans cell histiocytosis histopathological features. Around 10% of patients diagnosed with histiocytosis may develop a hematological malignancy, often with dramatic prognostic consequences. We hereby describe the exceptional case of a patient developing a MAP2K1-driven mixed histiocytosis with Langerhans cell histiocytosis, Rosai-Dorfman-Destombes disease, and Erdheim-Chester disease features and cutaneous involvement, progressing to a fatal and clonally-related acute myeloid leukemia.

The endless quarantine: the impact of the COVID-19 outbreak on healthcare workers after three months of mandatory social isolation in Argentina.

Objectives: At the end of 2019 the SARS-CoV-2 outbreak spread around the globe with a late arrival to South America. The objective of this study was to evaluate the impact of the long period of mandatory social isolation that took place in Argentina on the general psychological well-being of healthcare workers due to the COVID-19 pandemic.

Methods: A survey was conducted during June 2020, in healthcare workers.

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.

Background: Chromosomal microarray analysis (CMA) is nowadays widely used in the diagnostic path of patients with clinical phenotypes. However, there is no ascertained evidence to date on how to assemble single/combined clinical categories of developmental phenotypic findings to improve the array-based detection rate.

Methods: The Italian Society of Human Genetics coordinated a retrospective study which included CMA results of 5,110 Italian patients referred to 17 genetics laboratories for variable combined clinical phenotypes.

Generation of three iPSC lines (IAIi002, IAIi004, IAIi003) from Rubinstein-Taybi syndrome 1 patients carrying CREBBP non sense c.4435G>T, p.(Gly1479*) and c.3474G>A, p.(Trp1158*) and missense c.4627G>T, p.(Asp1543Tyr) mutations.

Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutations in either CREBBP (RSTS1) or EP300 (RSTS2) genes. We characterized 3 iPSC lines generated by Sendai from blood of RSTS1 patients with unique non sense c.4435G > T, p.

Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism.

Chromosomal anomalies are well known to be an important cause of infertility, sterility and pregnancy loss. Balanced Reciprocal Translocation Mosaicism (BRTM) is an extremely rare phenomenon, mainly observed in subjects with a normal phenotype accompanied by reproductive failure. To date the mechanism of origin and the incidence of BRTM are poorly defined.

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features.

Pendred syndrome (PS) is an autosomal recessive disorder due to mutations in the gene (chr7q22. 3) and characterized by sensorineural hearing loss and variable thyroid phenotype. Silver-Russell syndrome (SRS) is a heterogeneous imprinting disorder including severe intrauterine and postnatal growth retardation, and dysmorphic features.

European guidelines for constitutional cytogenomic analysis.

With advancing technology and the consequent shift towards an increasing application of molecular genetic techniques (e.g., microarrays, next-generation sequencing) with the potential for higher resolution in specific contexts, as well as the application of combined testing strategies for the diagnosis of chromosomal disorders, it is crucial that cytogenetic/cytogenomic services keep up to date with technology and have documents that provide guidance in this constantly evolving scenario.

13q mosaic deletion including associated to mild phenotype and no cancer outcome - case report and review of the literature.

Background: The 13q deletion syndrome is a rare chromosome disorder associated with wide phenotypic spectrum, which is related to size and location of the deleted region and includes intellectual disability, growth retardation, craniofacial dysmorphisms, congenital malformations, and increased risk of retinoblastoma.

Case Presentation: Here, we report on a teenage boy with a mild phenotype characterized by obesity, hyperactivity, dysphagia, dysgraphia, sleep disturbance, and minor dysmorphic features (round face, bushy eyebrows, and stubby hands). Array Comparative Genomic Hybridization on blood identified a mosaic 13q14.

Generation of the Rubinstein-Taybi syndrome type 2 patient-derived induced pluripotent stem cell line (IAIi001-A) carrying the EP300 exon 23 stop mutation c.3829A > T, p.(Lys1277*).

Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused by heterozygous mutation in either the CREBBP (RSTS1) or EP300 (RSTS2) genes. We generated an induced pluripotent stem cell line from an RSTS2 patient's blood mononuclear cells by Sendai virus non integrative reprogramming method. The iPSC line (IAIi001RSTS2-65-A) displayed iPSC morphology, expressed pluripotency markers, possessed trilineage differentiation potential and was stable by karyotyping.

The Italian National External Quality Assessment Program in Cytogenetics: 4 years of activity (2013-2016) following the introduction of poor performance criteria.

Background: Italian External Quality Assessment (IEQA) Program in Cytogenetics, established in 2001 by the Istituto Superiore di Sanità (ISS), covers both Constitutional and Oncohaematological diagnosis. In 2013, performance criteria were defined and adopted. In this paper, we present the data from the first 4 years of activity (2013-2016) following the introduction of performance criteria.

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.

Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder characterized by distinctive facial features, growth retardation, broad thumbs and toes and mild to severe intellectual disability, caused by heterozygous mutations in either CREBBP or EP300 genes, encoding the homologous CBP and p300 lysine-acetyltransferases and transcriptional coactivators. No RSTS in vitro induced Pluripotent Stem Cell (iPSC)-neuronal model is available yet to achieve mechanistic insights on cognitive impairment of RSTS patients. We established iPSC-derived neurons (i-neurons) from peripheral blood cells of three CREBBP- and two EP300-mutated patients displaying different levels of intellectual disability, and four unaffected controls.

Molecular cytogenetics characterization of seven small supernumerary marker chromosomes derived from chromosome 19: Genotype-phenotype correlation and review of the literature.

Only a few subjects carrying supernumerary marker chromosomes derived from 19 chromosome (sSMC(19)) have been described to date and for a small portion of them the genic content has been defined at the molecular level. We present seven new different sSMCs(19) identified in eight individuals, seven of whom unrelated. The presence of the sSMC is associated with a clinical phenotype in five subjects, while the other three carriers, two of whom related, are normal.

Survey of medical genetic services in Italy: year 2011.

Background: The aim of this study was to collect information about 2011 genetic activities in Italy, with the purpose of providing guidance to the national health systems in order to improve genetic services.

Methods: A web-based survey was carried out to achieve the information.

Results: Data were collected from 268 macrostructures hosting 517 services and employing 3246 persons.

Deletion of the Snord116/SNORD116 Alters Sleep in Mice and Patients with Prader-Willi Syndrome.

Study Objectives: Sleep-wake disturbances are often reported in Prader-Willi syndrome (PWS), a rare neurodevelopmental syndrome that is associated with paternally-expressed genomic imprinting defects within the human chromosome region 15q11-13. One of the candidate genes, prevalently expressed in the brain, is the small nucleolar ribonucleic acid-116 (SNORD116). Here we conducted a translational study into the sleep abnormalities of PWS, testing the hypothesis that SNORD116 is responsible for sleep defects that characterize the syndrome.

7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature.

A new 7p22.1 microduplication syndrome characterized by intellectual disability, speech delay and craniofacial dysmorphisms, such as macrocephaly, hypertelorism and ear anomalies, has been outlined by the description of two patients with interstitial microduplications confined to 7p22.1 and the recently defined minimal overlapping 430 kb critical region including five genes.