Association of dysphagia severity in multiple system atrophy with the specific binding ratio on dopamine transporter SPECT.

Objective: Dysphagia in multiple system atrophy (MSA) is life-threatening and is caused by parkinsonism with cerebellar ataxia as a contributing factor. The present study investigated the relationship between dysphagia severity in MSA and the specific binding ratio (SBR) on dopamine transporter (DaT) SPECT using the Hyodo score, a qualitative scale for use with fiberoptic endoscopic evaluation of swallowing (FEES).

Methods: Hyodo score's ability to predict aspiration during a FEES examination of 88 patients with MSA was first tested.

The Balance Between Intensive and Palliative Care in an Anti-melanoma Differentiation-Associated Gene 5 (MDA5) Antibody-Positive Acute Interstitial Pneumonia in a Nonagenarian: A Case Report.

This case report details the management of anti-melanoma differentiation-associated gene 5 (MDA5) antibody-positive acute interstitial pneumonia in a 93-year-old man, a condition characterized by rapid progression and high mortality. Despite the grim prognosis typically associated with this disease, especially in elderly patients, the subject of this report survived beyond the expected timeframe, illustrating the effectiveness of prompt and aggressive treatment strategies. Initially presenting with dyspnea, the patient's diagnostic process was challenging due to the absence of dermatomyositis (DM)-specific skin manifestations.

Validation study of the Japanese version of the King's Parkinson's Disease Pain Scale and the King's Parkinson's Disease Pain Questionnaire.

Introduction: The King's Parkinson's Disease Pain Scale (KPPS)/King's Parkinson's Disease Pain Questionnaire (KPPQ) was developed as a tool to quantitatively assess pain in patients with Parkinson's disease (PwPD). Here, we conducted a Japanese multicenter validation study to verify the reliability of KPPS/KPPQ in Japanese PwPD.

Methods: PwPD, ≥20 years, with unexplained pain were included; those with a definitive primary cause of pain other than PD were excluded.

Enlarged high frequency oscillations of the median nerve somatosensory evoked potential and survival in amyotrophic lateral sclerosis.

Objective: A large N20 and P25 of the median nerve somatosensory evoked potential (SEP) predicts short survival in amyotrophic lateral sclerosis (ALS). We investigated whether high frequency oscillations (HFOs) over N20 are enlarged and associated with survival in ALS.

Methods: A total of 145 patients with ALS and 57 healthy subjects were studied.

Weekend and off-hour effects on the incidence of cerebral palsy: contribution of consolidated perinatal care.

Objective: This study estimated the effects of weekend and off-hour childbirth and the size of perinatal medical care center on the incidence of cerebral palsy.

Methods: The cases were all children with severe cerebral palsy born in Japan from 2009 to 2012 whose data were stored at the Japan Obstetric Compensation System for Cerebral Palsy database, a nationally representative database. The inclusion criteria were the following: neonates born between January 2009 and December 2012 who had a birth weight of at least 2000 g and gestational age of at least 33 weeks and who had severe disability resulting from cerebral palsy independent of congenital causes or factors during the neonatal period or thereafter.

Multiple Sclerosis Exacerbation Associated With High-Altitude Climbing Exposure.

The spectrum of the neurological effects of high-altitude exposure can range from high-altitude headache and acute mountain sickness, to the more severe end of the spectrum with high-altitude cerebral edema. In general, patients with known unstable preexisting neurological conditions and those patients with residual neurological deficits from a preexisting neurological condition are discouraged from climbing to high altitudes because of the risk of exacerbation or worsening of symptoms. Although multiple sclerosis exacerbations can be triggered by environmental factors, high-altitude exposure has not been reported as a potential trigger.

Mitophagy in three cases of immune-mediated necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase autoantibodies: ultrastructural and immunohistochemical studies.

Immune-mediated necrotizing myopathy (IMNM) associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) autoantibodies occurs in patients both with and without history of statin-intake. The mechanisms of muscle fiber degeneration in this condition remain unknown. We studied pathological changes in muscle biopsies from three patients lacking history of statin-intake.

Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.

Mutations in small heat shock protein beta-1 (HspB1) have been linked to Charcot-Marie-Tooth (CMT) disease type 2F and distal hereditary motor neuropathy type 2B. Only four cases with HSPB1 mutations have been reported to date in Japan. In this study between April 2007 and October 2014, we conducted gene panel sequencing in a case series of 1,030 patients with inherited peripheral neuropathies (IPNs) using DNA microarray, targeted resequencing, and whole-exome sequencing.

Relevant Obstetric Factors for Cerebral Palsy: From the Nationwide Obstetric Compensation System in Japan.

Objective: The aim of this study was to identify the relevant obstetric factors for cerebral palsy (CP) after 33 weeks' gestation in Japan.

Study Design: This retrospective case cohort study (1:100 cases and controls) used a Japanese national CP registry. Obstetric characteristics and clinical course were compared between CP cases in the Japan Obstetric Compensation System for Cerebral Palsy database and controls in the perinatal database of the Japan Society of Obstetrics and Gynecology born as live singleton infants between 2009 and 2011 with a birth weight ≥ 2,000 g and gestation ≥ 33 weeks.