A novel iPSC model of Bryant-Li-Bhoj neurodevelopmental syndrome demonstrates the role of histone H3.3 in neuronal differentiation and maturation.

Background: Bryant-Li-Bhoj neurodevelopmental syndrome (BLBS) is neurogenetic disorder caused by variants in and the two genes that encode the histone H3.3 protein. Ninety-nine percent of individuals with BLBS show developmental delay/intellectual disability, but the mechanism by which variants in H3.

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome is characterized by developmental delay/intellectual disability, craniofacial anomalies, hyper/hypotonia, and abnormal neuroimaging [1, 5].

Tactile processing in mouse cortex depends on action context.

The brain receives constant tactile input, but only a subset guides ongoing behavior. Actions associated with tactile stimuli thus endow them with behavioral relevance. It remains unclear how the relevance of tactile stimuli affects processing in the somatosensory (S1) cortex.

NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders.

Whole exome and genome sequencing, coupled with refined bioinformatic pipelines, have enabled improved diagnostic yields for individuals with Mendelian conditions and have led to the rapid identification of novel syndromes. For many Mendelian neurodevelopmental disorders (NDDs), there is a lack of pre-existing model systems for mechanistic work. Thus, it is critical for translational researchers to have an accessible phenotype- and genotype-informed approach for model system selection.

Analysis of histone variant constraint and tissue expression suggests five potential novel human disease genes: H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0.

While germline variants in histone protein-encoding genes are emerging as the pathogenic mutations underlying rare, Mendelian disorders characterized by a conserved phenotype of neurodevelopmental syndrome coupled with craniofacial abnormalities, a systematic assessment of all human genes encoding histone proteins has not been performed to predict novel disease-candidate genes. We first defined a comprehensive list of 89 histone-encoding genes. We then analyzed which are most likely to underlay this conserved phenotype when mutated based on their intolerance to either missense or loss-of-function variation and based on their tissue expression profile.

Stable Representations of Decision Variables for Flexible Behavior.

Decisions occur in dynamic environments. In the framework of reinforcement learning, the probability of performing an action is influenced by decision variables. Discrepancies between predicted and obtained rewards (reward prediction errors) update these variables, but they are otherwise stable between decisions.

Identification of the PhoB Regulon and Role of PhoU in the Phosphate Starvation Response of Caulobacter crescentus.

Unlabelled: An ability to sense and respond to changes in extracellular phosphate is critical for the survival of most bacteria. For Caulobacter crescentus, which typically lives in phosphate-limited environments, this process is especially crucial. Like many bacteria, Caulobacter responds to phosphate limitation through a conserved two-component signaling pathway called PhoR-PhoB, but the direct regulon of PhoB in this organism is unknown.

Radioactive iodine 1311 (RAI) treatment. The nearest to the "magic bullet" but should always be preceded by a risk assessment, especially in the pediatric patient.

Radioactive iodine treatment is very frequently the best approach, but it should be optimized by dosimetric and risk considerations.

Systematic dissection and trajectory-scanning mutagenesis of the molecular interface that ensures specificity of two-component signaling pathways.

Two-component signal transduction systems enable bacteria to sense and respond to a wide range of environmental stimuli. Sensor histidine kinases transmit signals to their cognate response regulators via phosphorylation. The faithful transmission of information through two-component pathways and the avoidance of unwanted cross-talk require exquisite specificity of histidine kinase-response regulator interactions to ensure that cells mount the appropriate response to external signals.

Integrated fluorine-18 fluorodeoxyglucose (18F-FDG) PET/CT compared to standard contrast-enhanced CT for characterization and staging of pulmonary tumors eligible for surgical resection.

Background: Accurate staging is necessary to determine the appropriate therapy in patients with lung cancer. Few studies have compared integrated fluorine-18 fluorodeoxyglucose (18F-FDG) positron emission tomography/computed tomography (PET/CT) and contrast-enhanced CT in the characterization and staging of pulmonary tumors considered eligible for surgical resection.

Purpose: To compare 18F-FDG PET/CT with standard contrast-enhanced CT for the diagnosis and staging of lung neoplasms eligible for surgical resection.

Rewiring the specificity of two-component signal transduction systems.

Two-component signal transduction systems are the predominant means by which bacteria sense and respond to environmental stimuli. Bacteria often employ tens or hundreds of these paralogous signaling systems, comprised of histidine kinases (HKs) and their cognate response regulators (RRs). Faithful transmission of information through these signaling pathways and avoidance of detrimental crosstalk demand exquisite specificity of HK-RR interactions.

MR angiography versus intra-arterial digital subtraction angiography of the lower extremities: activity-based cost analysis.

Purpose: The aim of this study was to analyse the costs pertaining to the radiology department of magnetic resonance angiography (MRA) and intra-arterial digital subtraction angiography (DSA) in the evaluation of arterial disease of the lower limbs.

Materials And Methods: The differential cost of the two procedures, i.e.

Evaluation of lingual vascular canals of the mandible with Computed Tomography.

Purpose: To assess the anatomy of the mandibular lingual vascular canals with the use of computed tomography (CT).

Materials And Methods: Seventy consecutive patients underwent preimplantation CT of the mandible. CT images were obtained on axial plane by using a bone reconstruction algorithm and then processed with dedicated software (Dentascan).

Positive and negative regulation of deltaN-p63 promoter activity by p53 and deltaN-p63-alpha contributes to differential regulation of p53 target genes.

Mammary epithelial regeneration implies the existence of cellular progenitors with retained replicative capacity, prolonged lifespan and developmental potency. Evidence exists that deltaN-p63 isoforms preserve these features by modulating p53 activity in basal epithelia. deltaN-p63 mRNA levels decline at the onset of differentiation suggesting that its transcriptional regulation may contribute to the initiation of differentiation.

Intravenous lidocaine in the treatment of hiccup.

The word "hiccup" refers to an involuntary, spasmodic contraction of the diaphragm that is followed by the abrupt closure of the glottis to produce the characteristic sound. Among the many documented causes of this occurrence are those due to neurogenic dysfunction. In the past few decades, lidocaine has been shown to be effective in treating a variety of disorders thought to involve neuropathic mechanisms, including seizures, chronic pain, and arrhythmias.

[Current role of color Doppler ultrasound in acute renal failure].

Acute Renal Failure (ARF) is characterized by a rapid decline of the glomerular filtration rate, due to hypotension (prerenal ARF), obstruction of the urinary tract (post-renal ARF) or renal parenchymal disease (renal ARF). The differential diagnosis among different causes of ARF is based on anamnesis, clinical symptoms and laboratory data. Usually ultrasound (US) is the only imaging examination performed in these patients, because it is safe and readily available.

Carcinoma of the thyroid in children--a review.

Thyroid cancer is the third most common solid tumor in children and adolescents. A review was made of the data on 540 such patients reported from nine large centers renowned for their experience with thyroid cancer. In respect to the pathogenesis the only factor conclusively known to promote development of thyroid cancer in the pediatric age group is irradiation, as documented by the Chernobyl experience.

Cancer of the thyroid in children and adolescents.

Thyroid cancer is a rare but intriguing malignancy when it occurs in childhood and adolescence. In this retrospective study 58 young patients with thyroid cancer treated at the Rabin Medical Centre are presented. We found that thyroid carcinoma in children presented in a more advanced stage than in adults, and the incidence of regional metastases at the time of presentation is higher.

Technetium-99m-MIBI scintimammography in palpable and nonpalpable breast lesions.

Unlabelled: The aim of this study was to determine the diagnostic accuracy of 99mTc-MIBI scintimammography in patients with palpable and nonpalpable breast cancer.

Methods: One hundred and forty patients with a clinically palpable breast mass and/or suspicious mammographic finding had prone scintimammography after the intravenous injection of 740 MBq 99Tc-MIBI within 5 days before open biopsy or surgery. All patients had mammography within 2 mo before the scintimammography.

Predictive value of dobutamine radionuclide ventriculography in detection of functional improvement after acute anterior wall infarction and thrombolytic therapy.

Background: Prolonged postischemic ventricular dysfunction (stunned myocardium) may prevent the assessment of myocardial salvage early after thrombolysis. Dobutamine in conjunction with radionuclide ventriculography has been proposed for the early assessment of myocardial viability and prediction of functional recovery.

Hypothesis: This study was designed to investigate the effects of low-dose dobutamine infusion on early global and regional function of reperfused myocardium after acute anterior wall myocardial infarction (MI).