Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing.

Aim: To investigate the occurrence of mosaicism in epilepsy probands and their parents using amplicon-based deep sequencing (ADS).

Methods: Patients were recruited from the outpatient of Peking University First Hospital. Two hundred and sixty-four probands with pathogenic variants tested by next-generation sequencing (NGS) were enrolled.

ATP1A3 mosaicism in families with alternating hemiplegia of childhood.

Alternating hemiplegia of childhood (AHC) is a rare and severe neurodevelopmental disorder characterized by recurrent hemiplegic episodes. Most AHC cases are sporadic and caused by de novo ATP1A3 pathogenic variants. In this study, the aim was to identify the origin of ATP1A3 pathogenic variants in a Chinese cohort.

Effect of Surface Ionization of Doped MnO on Capacitive Deionization Efficiency.

Associating MnO with carbonaceous supports profoundly enhances capacitive deionization (CDI) efficiency. A fundamental question of how the surface chemistry of MnO itself influences CDI efficiency is not yet fully understood. In this study, the effect of surface ionization on the CDI efficiencies of Fe-, Co-, and Ni-doped α-MnO (<0.

[ATP1A3 gene mutations in patients with alternating hemiplegia of childhood].

Objective: To analyze the ATP1A3 mutations in patients with alternating hemiplegia of childhood (AHC) and recognize its value in diagnosing atypical cases.

Method: Data of all AHC patients seen at Peking University First Hospital from August 2005 to November 2014 were prospectively collected. Clinical information of the AHC patients and their family members were collected and analyzed.

Determination of geniposide in adjuvant arthritis rat plasma by ultra-high performance liquid chromatography tandem mass spectrometry method and its application to oral bioavailability and plasma protein binding ability studies.

A specific, sensitive and high throughput ultra-high performance liquid chromatography-electrospray ionization tandem mass spectrometric method (UHPLC-ESI-MS/MS) was established and validated to assay geniposide (GE), a promising anti-inflammatory drug, in adjuvant arthritis rat plasma: application to pharmacokinetic and oral bioavailability studies and plasma protein binding ability. Plasma samples were processed by de-proteinised with ice-cold methanol and separated on an ACQUITY UPLC™ HSS C18 column (100 mm × 2.1mm i.

Tibetans at extreme altitude.

Between 1960 and 2003, 13 Chinese expeditions successfully reached the summit of Chomolungma (Mt Everest or Sagarmatha). Forty-five of the 80 summiteers were Tibetan highlanders. During these and other high-altitude expeditions in Tibet, a series of medical and physiological investigations were carried out on the Tibetan mountaineers.