Uncommon Presentation of Cystic Fibrosis: A Case Report and Literature Review.

Cystic fibrosis (CF) is a multiorgan disease, caused by autosomal recessive (AR) mutations in the cystic fibrosis transmembrane regulator (CFTR) acting primarily as a chloride channel. CF is most commonly diagnosed in Caucasian populations. Common clinical presentations in pediatric patients include chronic cough, respiratory tract infections such as pneumonia, digestive symptoms, and stunted growth, and malnutrition due to gastrointestinal malabsorption and pancreatic insufficiency.

Effect of Magnetic Resonance Imaging on Acute Surgical Treatment of Pregnant Patients: A Single Institution Study.

Background: Abdominal pathology in pregnant patients is a frequent challenge for emergency department physicians. Ultrasound is the imaging modality of choice but is inconclusive in approximately one-third of cases. Magnetic resonance imaging (MRI) is becoming increasingly available, even in acute settings.

Ethnic disparity in cervical cancer stage at diagnosis: A retrospective study in an Israeli referral-center.

Objective: To compare stage and survival of cervical cancer between Jewish and Arab women in a tertiary medical center in Israel.

Methods: Retrospective study of consecutive women diagnosed with cervical cancer in a single institution between 2010 and 2021. We compared Jewish and Arab patients using univariate, multivariable, and survival curves analysis.

Weak thermal state quadrature-noise shadow imaging.

In this work, we theoretically and experimentally demonstrate the possibility to create an image of an opaque object using a few-photon thermal optical field. We utilize the quadrature-noise shadow imaging (QSI) technique that detects the changes in the quadrature-noise statistics of the probe beam after its interaction with an object. We show that such a thermal QSI scheme has an advantage over the classical differential imaging when the effect of dark counts is considered.

Wave-front reconstruction via single-pixel homodyne imaging.

We combine single-pixel imaging and homodyne detection to perform full object recovery (phase and amplitude). Our method does not require any prior information about the object or the illuminating fields. As a demonstration, we reconstruct the optical properties of several semi-transparent objects and find that the reconstructed complex transmission has a phase precision of 0.

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

Purpose: KLHL20 is part of a CUL3-RING E3 ubiquitin ligase involved in protein ubiquitination. KLHL20 functions as the substrate adaptor that recognizes substrates and mediates the transfer of ubiquitin to the substrates. Although KLHL20 regulates neurite outgrowth and synaptic development in animal models, a role in human neurodevelopment has not yet been described.

The Solubility Limit of Carbon in Alumina at 1,600°C.

The solubility limit of carbon in -AlO (alumina) equilibrated at 1,600°C under He in a graphite furnace was measured by wavelength-dispersive spectroscopy. Undoped alumina and alumina containing carbon at a concentration resulting in the precipitation of a second phase were prepared and equilibrated at 1,600°C. The undoped alumina was used to quantify the amount of carbon deposited on the surface of samples because of hydrocarbon contamination in the electron microscope, and this background level was removed from the signal measured from carbon-doped samples.

TrackUSF, a novel tool for automated ultrasonic vocalization analysis, reveals modified calls in a rat model of autism.

Background: Various mammalian species emit ultrasonic vocalizations (USVs), which reflect their emotional state and mediate social interactions. USVs are usually analyzed by manual or semi-automated methodologies that categorize discrete USVs according to their structure in the frequency-time domains. This laborious analysis hinders the effective use of USVs as a readout for high-throughput analysis of behavioral changes in animals.

Realistic model of entanglement-enhanced sensing in optical fibers.

Experimental limitations such as optical loss and noise have prevented entanglement-enhanced measurements from demonstrating a significant quantum advantage in sensitivity. Holland-Burnett entangled states can mitigate these limitations and still present a quantum advantage in sensitivity. Here we model a fiber-based Mach-Zehnder interferometer with internal loss, detector efficiency, and external phase noise and without pure entanglement.

HybridMouse: A Hybrid Convolutional-Recurrent Neural Network-Based Model for Identification of Mouse Ultrasonic Vocalizations.

Mice use ultrasonic vocalizations (USVs) to convey a variety of socially relevant information. These vocalizations are affected by the sex, age, strain, and emotional state of the emitter and can thus be used to characterize it. Current tools used to detect and analyze murine USVs rely on user input and image processing algorithms to identify USVs, therefore requiring ideal recording environments.

Patterns of alliance development in cognitive behavioral therapy versus attention bias modification for social anxiety disorder: Sawtooth patterns and sudden gains.

Objectives: We examined patterns in alliance development in cognitive behavioral therapy (CBT) for social anxiety disorder (SAD) compared to attention bias modification (ABM). We focused on the occurrence of sawtooth patterns (increases within- and decreases between-sessions) and sudden gains and their association with outcome.

Methods: Clients received CBT (n = 33) or ABM (n = 17).

Efficient Simulation of Loop Quantum Gravity: A Scalable Linear-Optical Approach.

The problem of simulating complex quantum processes on classical computers gave rise to the field of quantum simulations. Quantum simulators solve problems, such as boson sampling, where classical counterparts fail. In another field of physics, the unification of general relativity and quantum theory is one of the greatest challenges of our time.

The alliance mediates outcome in cognitive-behavioral therapy for social anxiety disorder, but not in attention bias modification.

The aim of the current study was to examine changes in the therapeutic alliance and its role as a mediator of treatment outcome in cognitive behavioral therapy (CBT) for social anxiety disorder (SAD) compared to attention bias modification (ABM). Patients were randomized to 16-20 sessions of CBT (n = 33) or 8 sessions of ABM (n = 17). Patient-rated alliance and self-reported social anxiety were measured weekly and evaluator-rated social anxiety was measured monthly.

The role of expressive suppression and cognitive reappraisal in cognitive behavioral therapy for social anxiety disorder: A study of self-report, subjective, and electrocortical measures.

Background: Contemporary models of cognitive behavioral therapy (CBT) for social anxiety disorder (SAD) emphasize emotion dysregulation as a core impairment whose reduction may play a causal role in psychotherapy. The current study examined changes in use of emotion regulation strategies as possible mechanisms of change in CBT for SAD. Specifically, we examined changes in expressive suppression and cognitive reappraisal during CBT and whether these changes predict treatment outcome.

Quantum-Limited Squeezed Light Detection with a Camera.

We present a technique for squeezed light detection based on direct imaging of the displaced-squeezed-vacuum state using a CCD camera. We show that the squeezing parameter can be accurately estimated using only the first two moments of the recorded pixel-to-pixel photon fluctuation statistics, with accuracy that rivals that of the standard squeezing detection methods such as a balanced homodyne detection. Finally, we numerically simulate the camera operation, reproducing the noisy experimental results with low signal samplings and confirming the theory with high signal samplings.

Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome.

Mendelian disorders of the epigenetic machinery (MDEMs), also named chromatin modifying disorders, are a broad group of neurodevelopmental disorders, caused by mutations in functionally related chromatin genes. Mental retardation autosomal dominant 23 (MRD23) syndrome, due to gene mutations, falls into this group of disorders. KBG syndrome, caused by gene haploinsufficiency, is a chromatin related syndrome not formally belonging to this category.

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.

The RNA editing enzyme ADAR2 is essential for the recoding of brain transcripts. Impaired ADAR2 editing leads to early-onset epilepsy and premature death in a mouse model. Here, we report bi-allelic variants in ADARB1, the gene encoding ADAR2, in four unrelated individuals with microcephaly, intellectual disability, and epilepsy.

Thresholded Quantum LIDAR: Exploiting Photon-Number-Resolving Detection.

We present a technique that improves the signal-to-noise-ratio (SNR) of range-finding, sensing, and other light-detection applications. The technique filters out low photon numbers using photon-number-resolving detectors. This technique has no classical analog and cannot be done with classical detectors.

Single Admission C-reactive protein Levels as a Sole Predictor of Patient Flow and Clinical Course in a General Internal Medicine Department.

Background: C-reactive protein (CRP) blood level is associated with clinical outcomes of several diseases. However, the independent predictive role of CRP in the heterogeneous population of patients admitted to internal medicine wards is not known.

Objectives: To determine whether single CRP levels at admission independently predicts clinical outcome and flow of patients in general medicine wards.

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.

Using trio exome sequencing, we identified de novo heterozygous missense variants in PAK1 in four unrelated individuals with intellectual disability, macrocephaly and seizures. PAK1 encodes the p21-activated kinase, a major driver of neuronal development in humans and other organisms. In normal neurons, PAK1 dimers reside in a trans-inhibited conformation, where each autoinhibitory domain covers the kinase domain of the other monomer.

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.

PTPN23 is a His-domain protein-tyrosine phosphatase implicated in ciliogenesis, the endosomal sorting complex required for transport (ESCRT) pathway, and RNA splicing. Until recently, no defined human phenotype had been associated with alterations in this gene. We identified and report a cohort of seven patients with either homozygous or compound heterozygous rare deleterious variants in PTPN23.

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.

Purpose: Sifrim-Hitz-Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo variants inCHD4. In this study, we investigated the clinical spectrum of the disorder, genotype-phenotype correlations, and the effect of different missense variants on CHD4 function.

Methods: We collected clinical and molecular data from 32 individuals with mostly de novo variants in CHD4, identified through next-generation sequencing.

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.

Majewski Osteodysplastic Primordial Dwarfism type II (MOPDII) is a form of dwarfism associated with severe microcephaly, characteristic skeletal findings, distinct dysmorphic features and increased risk for cerebral infarctions. The condition is caused by bi-allelic loss-of-function variants in the gene PCNT. Here we describe the identification of a novel founder pathogenic variant c.