Patient mutations in DRP1 perturb synaptic maturation of cortical neurons.

With the advent of exome sequencing, a growing number of children are being identified with loss of function mutations in the dynamin 1 like ( gene encoding the large GTPase essential for mitochondrial fission, dynamin-related protein 1 (DRP1); these mutations result in severe neurodevelopmental phenotypes, such as developmental delay, optic atrophy, and epileptic encephalopathies. Though it is established that mitochondrial fission is an essential precursor to the rapidly changing metabolic needs of the developing cortex, it is not understood how identified mutations in different domains of DRP1 uniquely disrupt cortical development and synaptic maturation. We leveraged the power of induced pluripotent stem cells (iPSCs) harboring DRP1 mutations in either the GTPase or stalk domains to model early stages of cortical development .

Mechanical Complications of Hip and Knee Spacers Are Common.

Introduction Two-stage revision is frequently used for the treatment of periprosthetic joint infection (PJI). Because antibiotic-loaded cement spacers are constructed and implanted as temporary devices, mechanical complications are possible. The purpose of our study was to define the incidence of such mechanical complications, determine associated risk factors, and establish if such complications influence the subsequent success of PJI treatment.

Use of the WatchPAT to detect occult residual sleep-disordered breathing in patients on CPAP for obstructive sleep apnea.

Study Objectives: To determine the accuracy of the apnea-hypopnea index (AHI) as measured by continuous positive airway pressure (CPAP) machines by simultaneously employing a home sleep apnea testing device (WatchPAT 200, Itamar Medical, Israel [WPAT]) in patients suspected of having residual sleep-disordered breathing (SDB).

Methods: Patients with new, recurrent, or worsening signs, symptoms, or comorbidities associated with obstructive sleep apnea underwent home sleep apnea testing using WPAT while simultaneously using CPAP at their usual prescribed settings. CPAP AHI and WPAT AHI, respiratory disturbance index, and oximetry readings were then compared.

Single-cell transcriptomic analysis of the lateral hypothalamic area reveals molecularly distinct populations of inhibitory and excitatory neurons.

The lateral hypothalamic area (LHA) coordinates an array of fundamental behaviors, including sleeping, waking, feeding, stress and motivated behavior. The wide spectrum of functions ascribed to the LHA may be explained by a heterogeneous population of neurons, the full diversity of which is poorly understood. We employed a droplet-based single-cell RNA-sequencing approach to develop a comprehensive census of molecularly distinct cell types in the mouse LHA.