Novel gene variant identified in congenital hypomyelinating neuropathy-3: A case report.

Contactin-associated protein () gene mutations have been reported in cases of congenital hypomyelinating neuropathy (CHN), a rare hereditary neuropathy. We present a case of a term male infant born at 39 weeks 4 days with respiratory distress, impaired swallow function, and hypotonia. Neurological workup for structural, autoimmune, neuromuscular, and metabolic etiologies was negative and whole exome sequencing revealed a novel mutation in the gene, consistent with a diagnosis of CHN3.

Safety, Feasibility, and Utility of Digital Mobile Six-Minute Walk Testing in Pulmonary Arterial Hypertension: The DynAMITE Study.

Rationale: Pulmonary arterial hypertension (PAH) is a life-threatening progressive cardiopulmonary disease associated with high morbidity and mortality. Changes in the six-minute walk test (6MWT) provide prognostic information and help guide treatment decisions for PAH. However, since 6MWT requires in-clinic visits, clinical interventions to address disease progression may be delayed.

Disentangling the genetic underpinnings of neuropsychiatric symptoms in Alzheimer's disease in the Alzheimer's Disease Sequencing Project: Study design and methodology.

Introduction: Neuropsychiatric symptoms (NPS) are highly prevalent in Alzheimer's disease (AD). There are no effective treatments targeting these symptoms.

Methods: To facilitate identification of causative mechanistic pathways, we initiated an effort (NIH: U01AG079850) to collate, harmonize, and analyze all available NPS data (≈ 100,000 samples) of diverse ancestries with whole-genome sequencing data from the Alzheimer's Disease Sequencing Project (ADSP).

Detecting Entanglement from Macroscopic Measurements of the Electric Field and Its Fluctuations.

To address the outstanding task of detecting entanglement in large quantum systems, entanglement witnesses have emerged, addressing the separable nature of a state. Yet optimizing witnesses, or accessing them experimentally, often remains a challenge. We here introduce a family of entanglement witnesses for open quantum systems.