Reliably quantifying the severity of social symptoms in children with autism using ASDSpeech.

Several studies have demonstrated that the severity of social communication problems, a core symptom of Autism Spectrum Disorder (ASD), is correlated with specific speech characteristics of ASD individuals. This suggests that it may be possible to develop speech analysis algorithms that can quantify ASD symptom severity from speech recordings in a direct and objective manner. Here we demonstrate the utility of a new open-source AI algorithm, ASDSpeech, which can analyze speech recordings of ASD children and reliably quantify their social communication difficulties across multiple developmental timepoints.

Systematic Review of the First 40 Cases of Lu-PSMA Therapy in the Treatment of Non-prostatic Cancer.

Background/aim: The current systematic review aimed to collect and analyze all available published and unpublished cases in which prostate-specific membrane antigen (PSMA)-targeted radioligand therapy (Lu-PSMA) was used to treat non-prostatic cancer.

Materials And Methods: Literature search and evidence acquisition through contacts with organizations that use Lu-PSMA were employed. PubMed/Medline, SCOPUS, and ScienceDirect searches were performed following PRISMA recommendations.

Temporal dynamics of isolation calls emitted by pups in environmental and genetic mouse models of autism spectrum disorder.

Introduction: Environmental and genetic factors contribute to the increased risk for neurodevelopmental disorders, including deficits in the development of social communication. In the mouse, ultrasonic vocalizations emitted by the pup stimulate maternal retrieval and potentiate maternal care. Therefore, isolation induced ultrasonic vocalization emitted by pups provides a means to evaluate deficits in communication during early development, before other ways of communication are apparent.

Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data.

Autism spectrum disorder (ASD) is a heterogenous multifactorial neurodevelopmental condition with a significant genetic susceptibility component. Thus, identifying genetic variations associated with ASD is a complex task. Whole-exome sequencing (WES) is an effective approach for detecting extremely rare protein-coding single-nucleotide variants (SNVs) and short insertions/deletions (INDELs).

Impact of COVID-19 on Lifestyle Habits and Emotional State of Childhood Cancer Survivors and Their Parents.

Objective: The COVID-19 pandemic and associated social distancing measures affected the physical and emotional state of children and parents worldwide. Survivors of childhood cancer may be particularly vulnerable to these effects. We aimed to evaluate the lifestyle habits and emotional states of childhood cancer survivors and their parents during the COVID-19 outbreak.

Sleep disturbances are associated with irritability in ASD children with sensory sensitivities.

Background: Parent reports suggest that 44-84% of children with ASD exhibit sleep disturbances that are of clinical concern. Previous studies have reported that, in children with ASD, the severity of sleep disturbances is associated with the severity of either sensory problems or aberrant behaviors, but none have performed combined analyses with measures of both sensory and aberrant behaviors symptom domains from the same children.

Methods: We examined parent reports of 237 children with ASD, 1.

Genetic impairment of folate metabolism regulates cortical interneurons and social behavior.

Introduction: The implications of folate deficiency in neuropsychiatric disorders were demonstrated in numerous studies. Genetic deficiency in a key folate metabolism enzyme, MTHFR, is an example of the interaction between genetic and environmental risk factors: the maternal MTHFR deficiency governs nutrient availability, and the embryo's genotype influences its ability to metabolize folates. Here, we explore how the maternal and offspring genotypes affect cortical interneuron densities and distributions, mouse social outcome, and the relation of the different interneuron patterns to cortical excitability.

Novel Respiratory Therapy for the Improvement of Post COVID Condition Symptoms: A Case Series.

Introduction: Speech-language pathologists are seeing a growing number of patients whose voice and upper airway symptoms are complicated by dyspnea, cognitive difficulties, anxiety, extreme fatigue, and other debilitating post COVID symptoms. These patients are often less responsive to traditional speech-language pathology treatments and there is emerging literature that suggests dysfunctional breathing (DB) might contribute to dyspnea and other symptoms in this patient population. Treatment of DB through breathing retraining has been shown to improve breathing and successfully reduce symptoms similar to those seen in patients with long COVID.

Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.

Pathogenic variants in LRBA, encoding the LPS Responsive Beige-Like Anchor (LRBA) protein, are responsible for recessive, early-onset hypogammaglobulinemia, severe multi-organ autoimmunity, and lymphoproliferation, with increased risk for malignancy. LRBA deficiency has a wide clinical spectrum with variable age of onset and disease severity. Three apparently unrelated patients with LRBA deficiency, of Georgian Jewish descent, were homozygous for LRBA c.

Anti-Tumorigenic Effect of a Novel Derivative of 2-Hydroxyoleic Acid and the Endocannabinoid Anandamide on Neuroblastoma Cells.

Modulation of the endogenous cannabinoid system has been suggested as a potential anticancer strategy. In the search for novel and less toxic therapeutic options, structural modifications of the endocannabinoid anandamide and the synthetic derivative of oleic acid, Minerval (HU-600), were done to obtain 2-hydroxy oleic acid ethanolamide (HU-585), which is an HU-600 derivative with the anandamide side chain. We showed that treatment of SK-N-SH neuroblastoma cells with HU-585 induced a better anti-tumorigenic effect in comparison to HU-600 as evidenced by 3-[4,5-dimethylthiazole-2-yl]-2,5-diphenyltetrazolium bromide assay, colony-forming assay, and migration assay.

Rivaroxaban treatment among children with cancer-associated thromboembolism: Real-world data.

This is the first study examining real-life data of pediatric cancer patients treated with rivaroxaban. Children with thrombocytopenia and high bleeding risk were excluded from previous clinical trials. Data regarding the safety and efficacy of rivaroxaban in pediatric cancer-associated thrombosis are scarce.

Home-quarantine during the initial Covid-19 outbreak in Israel: parent perceived impact on children with ASD.

Background: Studies have reported that Covid-19 home-quarantine periods have had mostly negative psychological impact on children with ASD and their families. Here we examined parent perceived impact of a 6-week quarantine period imposed in Israel at the beginning of the Covid-19 outbreak, in mid-March 2020.

Methods: An anonymous online questionnaire was completed by parents of 268 children with ASD.

Nuclear imaging in Parkinson's disease: The past, the present, and the future.

The current review analyzed Parkinson's disease-related (PD) literature published from 1817 to 2021 and specifically concentrated on imaging-related works published from the 1960s to 2021. We analyzed the history of PD-related imaging development, its current condition, and pointed out some understudied aspects to be investigated in the future. The present review is specifically concentrated on nuclear imaging techniques.

Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition.

Background: Kaposiform lymphangiomatosis (KLA) is a complex lymphatic anomaly involving most commonly the mediastinum, lung, skin and bones with few effective treatments. In recent years, RAS-MAPK pathway mutations were shown to underlie the pathogenesis of several complex lymphatic anomalies. Specifically, an activating NRAS mutation (p.

Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel.

Whole-exome sequencing (WES) is an effective approach to identify the susceptibility of genetic variants of autism spectrum disorder (ASD). The Israel Ministry of Health supports WES as an adjunct tool for ASD diagnosis, despite its unclear diagnostic yield and cost effectiveness. To address this knowledge gap, we applied WES to a population-based sample of 182 Bedouin and Jewish children with ASD from southern Israel, and assessed its yield in a gene panel of 205 genes robustly associated with ASD.

"Some things are even worse than telling a child he is going to die": Pediatric oncology healthcare professionals perspectives on communicating with children about cancer and end of life.

Introduction: This study explored pediatric oncology healthcare professionals' (HCPs) perspectives on direct communication with children with advanced disease about their disease, palliative care, and end-of-life (EOL) communication.

Methods: Forty-six pediatric oncologists, nurses, psychosocial team members, and other HCPs from six hospital centers in Israel participated in semi-structured interviews. The Grounded Theory method was used.

Evaluating the use of baclofen as adjunct treatment for muscle tension dysphonia.

Objective: To explore whether use of baclofen as adjunct treatment to voice therapy (VT) led to improvement in subjective throat symptoms in patients with primary muscle tension dysphonia (MTD). MTD is associated with excessive paralaryngeal muscle contraction, and baclofen is a muscle relaxant.

Study Design: Cross-sectional, questionnaire-based study.

Isolation-Induced Ultrasonic Vocalization in Environmental and Genetic Mice Models of Autism.

Studies in rodent models suggest that calls emitted by isolated pups serve as an early behavioral manifestation of communication deficits and autistic like behavior. Previous studies in our labs showed that gestational exposure to the pesticide chlorpyrifos (CPF) and the Mthfr-knock-out mice are associated with impaired social preference and restricted or repetitive behavior. To extend these studies, we examine how pup communication ultrasonic vocalizations is altered in these ASD models.

Pressure pulsations enhance penetration index in COPD.

This study was done in order to evaluate the effect of a novel pressure pulsation device (Pulsehaler™, Respinova Ltd., Israel) on the deposition pattern of inhaled aerosol in the lungs of COPD patients. Fifteen COPD patients were recruited to undergo spirometry and SPECT-CT lung scan following nebulization of radioactively labeled albuterol in saline solution with a jet nebulizer ("NEB") and with a combined Pulsehaler™/jet nebulizer ("PH + NEB") treatment.

Organizational and individual barriers and facilitators to the integration of pediatric palliative care for children: A grounded theory study.

Background: Pediatric palliative care has established benefits for children with cancer and their families. Overcoming organizational and healthcare provider barriers have been demonstrated as central for the provision of palliative care in pediatric oncology. A deeper understanding is needed of the influence of these barriers and the interactions between them, specifically in primary palliative care in hospital settings.

Oncologist conceptualizations of pediatric palliative care: challenges and definitions.

Purpose: Pediatric palliative care (PC) is an evolving field and involves a comprehensive approach to care of children with cancer. The goal of this paper was to explore how pediatric oncologists define, interpret, and practice pediatric palliative care in their clinical settings.

Methods: The study used the grounded theory approach to data collection and analysis.

The influence of choline treatment on behavioral and neurochemical autistic-like phenotype in Mthfr-deficient mice.

Imbalanced one carbon metabolism and aberrant autophagy is robustly reported in patients with autism. Polymorphism in the gene methylenetetrahydrofolate reductase (Mthfr), encoding for a key enzyme in this pathway is associated with an increased risk for autistic-spectrum-disorders (ASDs). Autistic-like core and associated behaviors have been described, with contribution of both maternal and offspring Mthfr genotype to the different domains of behavior.