Ocular Telangiectasia and Cerebellar Atrophy in Ataxia-Telangiectasia (Louis-Bar Syndrome).

Background: Ataxia-telangiectasia (Louis-Bar syndrome) is a rare genetic disorder characterized by progressive ataxia, ocular telangiectasias, immunodeficiency and increased cancer risk due to impaired DNA repair.

Phenomenology Shown: Thorough clinical and subsequently radiological examination in a 19-year-old woman with a history of previously undiagnosed, progressive gait ataxia since early childhood, diffuse large B-cell lymphoma and severe combined immunodeficiency revealed the eponymous features of the disease, ocular telangiectasias and cerebellar atrophy, enabling targeted genetic testing.

Educational Value: Ocular telangiectasias represent an important clue for a diagnosis of ataxia-telangiectasia in young patients with progressive ataxia, implicating awareness of increased malignancy risk and treatment of immunodeficiency.

Isolated inflammatory involvement of the occipital artery in giant cell arteritis and polymyalgia rheumatica: findings from a retrospective analysis and the critical role of MRI in diagnosis.

Background: Diagnosis of Giant Cell Arteritis (GCA) and Polymyalgia rheumatica (PMR) may be challenging as many patients present with non-specific symptoms. Superficial cranial arteries are predilection sites of inflammatory affection. Ultrasound is typically the diagnostic tool of first choice supplementary to clinical and laboratory examination.

Diurnal fluctuations of subthalamic nucleus local field potentials follow naturalistic sleep-wake behavior in Parkinson's disease.

Study Objectives: Deep brain stimulation (DBS) of the subthalamic nucleus (STN) may improve sleep dysfunction, a common non-motor symptom of Parkinson disease (PD). Improvement in motor symptoms correlates with DBS-suppressed local field potential (LFP) activity, particularly in the beta frequency (13 - 30 Hz). Although well-characterized in the short term, little is known about the innate progression of these oscillations across the sleep-wake cycle.

Towards Automated Chicken Monitoring: Dataset and Machine Learning Methods for Visual, Noninvasive Reidentification.

The chicken is the world's most farmed animal. In this work, we introduce the Chicks4FreeID dataset, the first publicly available dataset focused on the reidentification of individual chickens. We begin by providing a comprehensive overview of the existing animal reidentification datasets.

Dual-action kinase inhibitors influence p38α MAP kinase dephosphorylation.

Reversible protein phosphorylation directs essential cellular processes including cell division, cell growth, cell death, inflammation, and differentiation. Because protein phosphorylation drives diverse diseases, kinases and phosphatases have been targets for drug discovery, with some achieving remarkable clinical success. Most protein kinases are activated by phosphorylation of their activation loops, which shifts the conformational equilibrium of the kinase toward the active state.