The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy.

Juvenile myasthenia gravis (JMG) exhibits a more favorable response to glucocorticoids and has a better prognosis than adult myasthenia gravis. However, no established treatment exists for refractory JMG. Although thymectomy has been performed in several patients with refractory systemic JMG, there are few detailed clinical descriptions of patients who underwent thymectomy.

A first case of childhood chronic inflammatory demyelinating polyneuropathy associated with alopecia universalis.

Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired demyelinating disease of the peripheral nervous system with unknown etiology. Alopecia universalis, an advanced form of alopecia areata (AA), is a condition characterized by complete hair loss. Here we report the first case of childhood CIDP associated with AA who was successfully treated with a combination of intravenous immunoglobulin (IVIg) and corticosteroids.

Real-world outcomes of chemotherapy for lung cancer patients undergoing hemodialysis: A multicenter retrospective cohort study (NEJ-042).

Introduction: Malignant tumors are the major cause of death in hemodialysis patients. Management of these patients remains challenging as there is no evidence that chemotherapy is beneficial, and a lack of information about actual clinical practice.

Methods: This multicenter retrospective study included hemodialysis patients who were diagnosed with lung cancer from January 2002 to June 2018.

Transcranial electrical stimulation motor-evoked potentials rescue from postoperative neurological deficit due to inadequate neck position for the case of lumbar surgery with asymptomatic cervical stenosis.

Purpose: Transcranial electrical stimulation motor-evoked potentials (TES-MEPs) are an intraoperative neurophysiologic monitoring method that reduces adverse outcomes in various spine surgeries. Although spine surgeons rarely use TES-MEPs for simple lumbar decompression surgery, we herein firstly report the efficacy of TES-MEPs for lumbar spinal canal stenosis with asymptomatic coexisting cervical canal stenosis.

Methods: We report the case of a 71-year-old man who underwent lumbar decompression surgery for lumbar spinal canal stenosis.

The Prognostic Significance of the Continuous Administration of Anti-PD-1 Antibody Continuation or Rechallenge After the Occurrence of Immune-Related Adverse Events.

Objectives: Although immune checkpoint inhibitors (ICIs) have been shown to improve overall survival (OS) in advanced non-small-cell lung cancer (NSCLC) patients, ICIs sometimes cause various types of immune-related adverse events (irAEs), which lead to the interruption of ICI treatment. This study aims to evaluate the clinical significance of the continuation of ICIs in NSCLC patients with irAEs and to assess the safety and efficacy of the readministration of ICIs after their discontinuation due to irAEs.

Methods: We retrospectively identified patients with advanced NSCLC who were treated with first- to third-line anti-programmed cell death-1 (PD-1) therapy from January 2016 through October 2017 at multiple institutions belonging to the Niigata Lung Cancer Treatment Group.

Reduced efficacy of perampanel in patients with severe motor and intellectual disabilities syndrome and drug-resistant epilepsy: A single-center analysis from Japan.

People with severe motor and intellectual disabilities syndrome (SMIDS) have multiple comorbidities and high mortality rates. This study examined whether there is a difference in the efficacy and tolerability of perampanel (PER) between patients with drug-resistant epilepsy with or without SMIDS. The study identified 65 patients with drug-resistant epilepsy who underwent PER treatment as adjunctive therapy.

Subsequent systemic therapy for non-small cell lung cancer patients with immune checkpoint inhibitor-related interstitial lung disease.

Background: Although immune checkpoint inhibitors (ICIs) are effective for advanced non-small cell lung cancer (NSCLC), ICIs may cause interstitial lung disease (ILD), which results in treatment discontinuation and is sometimes fatal. Despite the high incidence of ICI-related ILD, there are few cancer treatment options for patients. This study aimed to evaluate the safety and efficacy of subsequent systemic cancer therapy in NSCLC patients with ICI-related ILD.

Antibody-enhanced hepatitis E virus nanofiltration during the manufacture of human immunoglobulin.

Background: Circulation of hepatitis E virus (HEV) in areas where plasma is sourced for the manufacture of plasma-derived medicinal products (PDMPs) has prompted verification of HEV clearance. HEV exists as quasi lipid-enveloped (LE) and non-lipid-enveloped (NLE) forms, which might be of relevance for HEV clearance from manufacturing processes of antibody-containing PDMPs with solvent/detergent (S/D) treatment upstream of further clearance steps.

Study Design And Methods: Presence of different HEV particles in stocks used in clearance studies was investigated, with nanofilters graded around the assumed HEV particle sizes and by gradient centrifugation.

Two cases of persistent falcine and occipital sinuses.

Background: The coexistence of falcine and occipital sinuses is rare and its natural course has not been reported.

Case Reports: Two patients with persistent falcine and occipital sinuses are described. Both patients had straight sinuses.

Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy.

Background: Generalized epilepsy and tremor phenotypes have been reported in some genetic disorders. Among them benign adult familial myoclonus epilepsy (BAFME) has been confirmed as a clearly defined clinical and genetic entity. On the other hand, non-progressive tremor and generalized epilepsy phenotypes have also been reported in patients with DHDDS variants.

Prognostic significance of the radiologic features of pneumonitis induced by anti-PD-1 therapy.

Background: Interstitial lung disease (ILD) induced by anti-programmed-cell death-1 (PD-1) and anti-PD-ligand 1 (PD-L1) is potentially life-threatening and is a common reason of the discontinuation of therapy. In contrast, an enhancement in antitumor effects was reported in patients who developed immune-related adverse events, including ILD. Although recent evidence suggests that radiologic patterns of ILD may reflect the severity of ILD and the antitumor immune responses to anti-PD-1/PD-L1 therapies, the association between radiologic features and clinical outcomes remains unclear.

Evolution and Diversity of the Wild Rice Oryza officinalis Complex, across Continents, Genome Types, and Ploidy Levels.

The Oryza officinalis complex is the largest species group in Oryza, with more than nine species from four continents, and is a tertiary gene pool that can be exploited in breeding programs for the improvement of cultivated rice. Most diploid and tetraploid members of this group have a C genome. Using a new reference C genome for the diploid species O.

Force Plate Gait Analysis and Clinical Results after Tibial Plateau Levelling Osteotomy for Cranial Cruciate Ligament Rupture in Small Breed Dogs.

Objective:  The aim of this study was to evaluate objective limb function using force plate gait analysis after tibial plateau levelling osteotomy (TPLO) in small breed dogs with cranial cruciate ligament rupture (CCLR).

Materials And Methods:  Small breed dogs (15 kg or less) with unilateral CCLR treated with TPLO were evaluated using symmetry index (SI) of peak vertical force (PVF), vertical impulse and vector magnitude at PVF performed preoperatively and at 1, 2, 4 and 6 months postoperatively after routine TPLO surgery.

Results:  Twelve dogs met the inclusion criteria.

Clinical Outcomes of Second-Line Chemotherapy in Patients with Previously Treated Advanced Thymic Carcinoma: A Retrospective Analysis of 191 Patients from the NEJ023 Study.

Background: Owing to the rarity of this tumor, there is limited information about second-line chemotherapy for patients with previously treated advanced thymic carcinoma.

Material And Methods: We performed a multi-institutional, retrospective study named NEJ023 for patients with advanced thymic carcinoma. Patients without indications for curative treatment were treated with chemotherapy from 1995 to 2014 at 40 institutions in the North East Japan Study Group.

Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms.

We report the first three Japanese patients with missense variants in the GNB1 gene. Patients exhibited severe dyskinetic quadriplegia with cortical blindness and epileptic spasms, West syndrome (but with good outcomes), and hypotonic quadriplegia that later developed into spastic diplegia. Whole-exome sequencing revealed two recurrent GNB1 variants (p.

Two males with sick sinus syndrome in a family with 0.6 kb deletions involving major domains in MECP2.

Mutations in methyl-CpG-binding protein 2 (MECP2) in males can lead to various phenotypes, ranging from neonatal encephalopathy to intellectual disability. In this study, using Nord's method of next-generation sequencing in three siblings, we identified a 0.6 kb deletion involving the transcriptional repression domain (TRD).

Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome.

The genotype-phenotype correlation in BRAF variant in cardio-facio-cutaneous (CFC) syndrome is not clearly defined. Here we report a case with a severe clinical phenotype and a novel BRAF variant, p.Leu485del.

Spontaneous resolution of thoracic radiation therapy-induced organizing pneumonia: A case series.

We retrospectively analyzed the data of 9 patients with organizing pneumonia induced by radiation therapy. Radiation therapy had been administered for breast cancer in 8 patients and for lung cancer in 1 patient. Symptoms were detected in 8 patients; however, none of the patients developed hypoxemia or respiratory failure, and the clinical course was good.

A novel homozygous mutation of the TFG gene in a patient with early onset spastic paraplegia and later onset sensorimotor polyneuropathy.

The tropomyosin-receptor kinase fused gene (TFG) has recently been implicated in several distinct hereditary disorders, including the autosomal-recessive form of complicated hereditary spastic paraplegia called SPG57. Previously, three homozygous variants of the TFG gene were reported in five families with SPG57, in which early onset spastic paraplegia, optic atrophy, and peripheral neuropathy were variably identified. Here, we present the first Japanese patient with SPG57, and have added a homozygous p.

[F]fluorodeoxyglucose-positron emission tomography study of genetically confirmed patients with Dravet syndrome.

Objective: To understand cerebral brain dysfunction in patients with Dravet syndrome (DS), we conducted a [F]fluorodeoxyglucose-positron emission tomography (FDG-PET) study in patients with DS whose SCN1A gene variant was confirmed.

Methods: FDG-PET was performed on eight patients with DS. A SCN1A mutation analysis revealed missense variants in four patients and truncation variants in four patients.