NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse Model.

Nicotinamide adenine dinucleotide (NAD) is a critical cofactor in mitochondrial energy production. The NADH/NAD ratio, reflecting the balance between NADH (reduced) and NADoxidized, is a key marker for the severity of mitochondrial diseases. We recently developed a streamlined LC-MS/MS method for the precise measurement of NADH and NAD.

Evaluation of renal fibrosis using scanning acoustic microscopy.

Background: Renal fibrosis is strongly correlated with renal functional outcomes. Therefore, this is a significant finding in determining renal prognosis. There are various reports on the imaging evaluation of renal fibrosis, but these are not well established.

Formation of I+III supercomplex rescues respiratory chain defects.

Mitochondrial electron transport chain (ETC) complexes partition between free complexes and quaternary assemblies known as supercomplexes (SCs). However, the physiological requirement for SCs and the mechanisms regulating their formation remain controversial. Here, we show that genetic perturbations in mammalian ETC complex III (CIII) biogenesis stimulate the formation of a specialized extra-large SC (SC-XL) with a structure of I+III, resolved at 3.

Management of pediatric Peutz-Jeghers syndrome: Highlighting the efficacy and safety of endoscopic ischemic polypectomy.

Objectives: Patients with Peutz-Jeghers syndrome (PJS) require continuous medical management throughout their lives. However, few case series regarding the clinical course, polyp surveillance, and treatment, including endoscopic ischemic polypectomy (EIP) for pediatric patients with PJS, were reported. We analyzed the current status and clinical course of pediatric patients with PJS under the management of our institute, including those treated with EIP.

Perampanel reduces seizure frequency in patients with developmental and epileptic encephalopathy for a long term.

Seizures in patients with developmental and epileptic encephalopathies (DEEs) are often highly resistant to various antiseizure medications. Perampanel (PER) is a novel antiseizure medication that non-competitively inhibits the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor and is expected to reduce seizure frequency not only for focal seizures and generalized tonic-clonic seizures (GTCS) but also for other seizure types. This study aimed to clarify the long-term therapeutic efficacy and tolerability of PER in patients with DEEs.