Publications by authors named "Norika Kubota"
Article Synopsis
- The study evaluated the effectiveness and safety of administering nusinersen via the paramedian approach for spinal muscular atrophy (SMA) patients with scoliosis, involving seven participants aged 12-40 years.
- All attempted administrations were successful, with a median procedure time of 44 minutes; those with SMA type 1 had longer procedure times compared to type 2.
- Adverse effects were minimal, primarily involving headaches, back pain, and a need for oxygen, suggesting a generally favorable outcome for this method of administration.
Aim: To report on sleep hypercapnia in Becker muscular dystrophy (BMD) at earlier stages than ever recognized.
Subjects And Methods: This retrospective study examined nocturnal hypercapnia in six young Becker muscular dystrophy (BMD) patients with deletions of one or more exons of DMD gene. Clinical information, consecutive data on forced vital capacity (FVC%), forced expiratory volume in one second (FEV1%), peak expiratory flow (PEF%), peak cough flow (PCF), average PCO in all-night monitoring, and left ventricular ejection fraction (LVEF) were reviewed.
Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.
Ann Clin Transl Neurol
March 2016
Objective: Gaucher disease (GD) is a lysosomal storage disease characterized by a deficiency of glucocerebrosidase. Although enzyme-replacement and substrate-reduction therapies are available, their efficacies in treating the neurological manifestations of GD are negligible. Pharmacological chaperone therapy is hypothesized to offer a new strategy for treating the neurological manifestations of this disease.
View Article and Find Full Text PDFAbnormal pupillary light reflex with chromatic pupillometry in Gaucher disease.
Ann Clin Transl Neurol
February 2014
The hallmark of neuronopathic Gaucher disease (GD) is oculomotor abnormalities, but ophthalmological assessment is difficult in uncooperative patients. Chromatic pupillometry is a quantitative method to assess the pupillary light reflex (PLR) with minimal patient cooperation. Thus, we investigated whether chromatic pupillometry could be useful for neurological evaluations in GD.
View Article and Find Full Text PDFBackground: Skeletal muscle metabolism is a major determinant of resting energy expenditure (REE). Although the severe muscle loss that characterizes Duchenne muscular dystrophy (DMD) may alter REE, this has not been extensively investigated.
Methods: We studied REE in 77 patients with DMD ranging in age from 10 to 37 years using a portable indirect calorimeter, together with several clinical parameters (age, height, body weight (BW), body mass index (BMI), vital capacity (VC), creatine kinase, creatinine, albumin, cholinesterase, prealbumin), and assessed their influence on REE.