Artificial Intelligence and Machine Learning for Inborn Errors of Immunity: Current State and Future Promise.

Artificial intelligence (AI) and machine learning (ML) research within medicine has exponentially increased over the last decade, with studies showcasing the potential of AI/ML algorithms to improve clinical practice and outcomes. Ongoing research and efforts to develop AI-based models have expanded to aid in the identification of inborn errors of immunity (IEI). The use of larger electronic health record data sets, coupled with advances in phenotyping precision and enhancements in ML techniques, has the potential to significantly improve the early recognition of IEI, thereby increasing access to equitable care.

Natural language processing of clinical notes enables early inborn error of immunity risk ascertainment.

Background: There are now approximately 450 discrete inborn errors of immunity (IEI) described; however, diagnostic rates remain suboptimal. Use of structured health record data has proven useful for patient detection but may be augmented by natural language processing (NLP). Here we present a machine learning model that can distinguish patients from controls significantly in advance of ultimate diagnosis date.

Repeated mild traumatic brain injury in female rats increases lipid peroxidation in neurons.

Negative outcomes of mild traumatic brain injury (mTBI) can be exacerbated by repeated insult. Animal models of repeated closed-head mTBI provide the opportunity to define acute pathological mechanisms as the number of mTBI increases. Furthermore, little is known about the effects of mTBI impact site, and how this may affect brain function.

Quantifying Isoniazid Levels in Small Hair Samples: A Novel Method for Assessing Adherence during the Treatment of Latent and Active Tuberculosis.

Background: Tuberculosis (TB) is the leading cause of death from an infectious pathogen worldwide and the most prevalent opportunistic infection in people living with HIV. Isoniazid preventive therapy (IPT) reduces the incidence of active TB and reduces morbidity and mortality in HIV-infected patients independently of antiretroviral therapy. However, treatment of latent or active TB is lengthy and inter-patient variability in pharmacokinetics and adherence common.

Convection-enhanced delivery in glioblastoma: a review of preclinical and clinical studies.

Glioblastoma is the most common malignant brain tumor, and it carries an extremely poor prognosis. Attempts to develop targeted therapies have been hindered because the blood-brain barrier prevents many drugs from reaching tumors cells. Furthermore, systemic toxicity of drugs often limits their therapeutic potential.

Incidence of headache as a presenting complaint in over 1000 patients with sellar lesions and factors predicting postoperative improvement.

Introduction: Due to the high incidence of headaches and pituitary tumors, neurosurgeons often evaluate patients with benign-appearing sellar lesions and headaches without insight into whether the headache is attributable to the lesion. We sought to evaluate the incidence of headache as a presenting complaint in patients undergoing transsphenoidal surgery for various pathologies and to identify factors predicting postoperative improvement.

Methods: We conducted a 5-year retrospective review of our first 1015 transsphenoidal surgeries since establishing a dedicated pituitary center.

Factors predicting recurrence after resection of clival chordoma using variable surgical approaches and radiation modalities.

Background: Clival chordomas frequently recur because of their location and invasiveness.

Objective: To investigate clinical, operative, and anatomic factors associated with clival chordoma recurrence.

Methods: Retrospective review of clival chordomas treated at our center from 1993 to 2013.

Distinct facilitated diffusion mechanisms by E. coli Type II restriction endonucleases.

The passive search by proteins for particular DNA sequences involving nonspecific DNA is essential for gene regulation, DNA repair, phage defense, and diverse epigenetic processes. Distinct mechanisms contribute to these searches, and it remains unresolved as to which mechanism or blend of mechanisms best suits a particular protein and, more importantly, its biological role. To address this, we compare the translocation properties of two well-studied bacterial restriction endonucleases (ENases), EcoRI and EcoRV.

DNA looping provides for "intersegmental hopping" by proteins: a mechanism for long-range site localization.

Studies on how transcription factors and DNA modifying enzymes passively locate specific sites on DNA have yet to be reconciled with a sufficient set of mechanisms that can adequately account for the efficiency and speed of this process. This is especially true when considering that these DNA binding/modifying proteins have diverse levels of both cellular copy numbers and genomic recognition site densities. The monomeric bacterial DNA adenine methyltransferase (Dam) is responsible for the rapid methylation of the entire chromosome (with only ~100 Dam copies per cell) and the regulated methylation of closely spaced sites that controls the expression of virulence genes in several human pathogens.

Catch! Movement kinematics of two-handed catching in boys with Developmental Coordination Disorder.

Purpose: To quantify two-handed catching in boys with Developmental Coordination Disorder (DCD) by examining sequencing of the upper limb and trunk segments, and degree of symmetry.

Method: Thirteen boys with DCD( ̅x=9.36 years ± 0.

A marker-based mean finite helical axis model to determine elbow rotation axes and kinematics in vivo.

The predominance of upper-limb elbow models have been based on earlier lower-limb motion analysis models. We developed and validated a functionally based 2 degree-of-freedom upper-limb model to measure rotations of the forearm using a marker-based approach. Data were collected from humans and a mechanical arm with known axes and ranges of angular motion in 3 planes.

The off-break and "doosra": kinematic variations of elite and sub-elite bowlers in creating ball spin in cricket bowling.

This study sought to identify kinematic differences in finger-spin bowling actions required to generate variations in ball speed and spin between different playing groups. A 12-camera Vicon system recorded the off-spin bowling actions of six elite and 13 high-performance spin bowlers, and the "doosra" actions of four elite and two high-performance players. Forearm abduction and fixed elbow flexion in the bowling arm were higher for the elite players compared with the high-performance players.