The authors describe two Japanese siblings with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without spasticity, usually a core feature of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at amino acid residue 304.

Background Rare neuromuscular diseases such as spinal muscular atrophy, spinal bulbar muscular atrophy, muscular dystrophy, Charcot-Marie-Tooth disease, distal myopathy, sporadic inclusion body myositis, congenital myopathy, and amyotrophic lateral sclerosis lead to incurable amyotrophy and consequent loss of ambulation. Thus far, no therapeutic approaches have been successful in recovering the ambulatory ability. Thus, the aim of this trial was to evaluate the efficacy and safety of cybernic treatment with a wearable cyborg Hybrid Assistive Limb (HAL, Lower Limb Type) in improving the ambulatory function in those patients. Results We conducted an open-label, randomised, controlled crossover trial to test HAL at nine hospitals between March 6, 2013 and August 8, 2014. Eligible patients were older than 18 years and had a diagnosis of neuromuscular disease as specified above. They were unable to walk for 10 m independently and had neither respiratory failure nor rapid deterioration in gait. The primary endpoint was the distance passed during a two-minute walk test (2MWT). The secondary endpoints were walking speed, cadence, and step length during the 10-m walk test (10MWT), muscle strength by manual muscle testing (MMT), and a series of functional measures. Adverse events and failures/problems/errors with HAL were also evaluated. Thirty patients were randomly assigned to groups A or B, with each group of 15 receiving both treatments in a crossover design. The efficacy of a 40-min walking program performed nine times was compared between HAL plus a hoist and a hoist only. The final analysis included 13 and 11 patients in groups A and B, respectively. Cybernic treatment with HAL resulted in a 10.066% significantly improved distance in 2MWT (95% confidence interval, 0.667–19.464; p = 0.0369) compared with the hoist only treatment. Among the secondary endpoints, the total scores of MMT and cadence at 10MWT were the only ones that showed significant improvement. The only adverse effects were slight to mild myalgia, back pain, and contact skin troubles, which were easily remedied. Conclusions HAL is a new treatment device for walking exercise, proven to be more effective than the conventional method in patients with incurable neuromuscular diseases. Trial registration: JMACTR, JMA-IIA00156

Background Postural abnormalities in Parkinson's disease (PD) patients and unimpaired elderly are not well differentiated. Factors related to postural abnormality associated with PD are controversial. Objective We assessed differences in postural change between PD patients and unimpaired elderly and elucidated factors related to abnormal posture in PD patients. Methods We measured the dropped head angle (DHA), anterior flexion angle (AFA), and lateral flexion angle (LFA) of the thoracolumbar spine of an unprecedented 1,117 PD patients and 2,732 general population participants (GPPs) using digital photographs. Two statistical analyses were used for elucidating factors related to these angles. Results In GPPs, age was correlated with DHA, AFA, and LFA. DHAs, AFAs, and LFAs of PD patients and age‐matched GPPs were 21.70° ± 14.40° and 13.13° ± 10.79°, 5.98° ± 12.67,°and − 3.82° ± 4.04°, and 0.86° ± 4.25° and 1.33° ± 2.16°, respectively. In PD patients, factors related to DHA were age, male sex, and H & Y stage during ON time. Factors related to AFA were age, duration of disease, H & Y stage during ON and OFF times, pain, vertebral disease, and bending to the right. A factor related to LFA was AFA. Conclusions DHA and AFA of GGPs correlated with age and were larger in PD patients than those with in GPPs. Some PD patients showed angles far beyond the normal distribution. Thus, factors associated with disease aggravation affected postural abnormality in PD patients.

Aim Sarcopenia is associated with poor health-related quality of life (HRQOL) in the general population. However, in cirrhotic patients, as the development of sarcopenia is closely related to declined liver function, which also impairs HRQOL, whether sarcopenia deteriorates HRQOL independently from declined liver function remains unclear. The aim of this study was to clarify the impact of sarcopenia on HRQOL impairment in cirrhotic patients. Patients and methods A total of 88 cirrhotic patients [median age, 69 years; range: 31–79 years; 49 male (55.7%), 45 with hepatocellular carcinoma (51.1%)] were analyzed. We measured HRQOL using the 36-item Short-Form Health Survey version 2 questionnaire and identified factors contributing to scores lower than 50 in physical component summary (PCS), mental component summary, and role-social component summary (RCS) scores. Results Twenty-four (27.2%) patients had sarcopenia. PCS and RCS scores were significantly lower in patients with sarcopenia compared with those without sarcopenia. Patients with Child–Pugh (CP) classification B or C showed significantly lower scores in PCS and RCS than those with CP classification A. On multivariate analysis, the presence of sarcopenia was the only factor associated with low PCS scores [odds ratio (OR): 11.6; P = 0.031]. Female sex (OR: 3.34; P = 0.034), CP classification B or C (OR: 3.19; P = 0.037), and presence of sarcopenia (OR: 4.64; P = 0.016) were identified as independent factors for low RCS scores. Conclusion Sarcopenia independently impairs physical and role-social HRQOL in cirrhotic patients.

Although aortic annular enlargement was required in more than half of the cases, intermediate-term results after aortic valve replacement using bileaflet mechanical prosthetic valve in children was satisfactory. Indications for alternative treatment such as Ross procedure might be considered in limited cases.

<b><i>Introduction:</i></b> Component-resolved diagnostics is used to diagnose food allergies. However, few reports have evaluated the severity of peach fruit allergy using peach allergen components, including Pru p 7. <b><i>Objective:</i></b> This study aimed to predict peach fruit allergy severity based on the presence of specific IgE (sIgE) antibodies (Abs) to peach allergenic components. <b><i>Methods:</i></b> Twenty-seven patients with peach fruit allergy were enrolled and classified into two groups: the local reaction (LR) group, including 12 patients with only oral or throat mucosal symptoms, and the systemic reaction (SR) group, including 15 patients, 10 of whom experienced anaphylaxis. Serum sIgE Abs against crude peach extract – Pru p 1, 2, 3, 4, and 7 – and tree pollen were measured. <b><i>Results:</i></b> sIgE Ab titers of Pru p 1 and 4 and alder pollen in the LR group were significantly higher than those in the SR group. sIgE against Pru p 7 was significantly higher in the SR group than in the LR group. The frequencies of sIgE Abs against Pru p 1, 4, and 7 in the LR group were 91.7, 66.7, and 16.7%, respectively, while in the SR group these were 80, 20, and 60%. Sensitization to Pru p 2 and 3 was detected but limited in all patients. <b><i>Conclusions:</i></b> These findings suggest that sensitization to Pru p 1 and Pru p 4 is associated with local symptoms, and sensitization to Pru p 7 is associated with SR and anaphylaxis. To predict the severity of peach fruit allergy, it is useful to assess sIgE Ab reactions combining Pru p 1, 4, and 7.

The incidence of central PS after the Norwood operation was significant, and the shunt type and procedure for the distal PA stump influenced the postoperative configuration of the central PA. With an aggressive surgical approach to central PS, PA anatomy was satisfactory with good hemodynamic variables after Fontan completion. Bilateral PA banding did not cause later vascular deformity.

In order to determine the prognosis of patients with chronic idiopathic pulmonary fibrosis (IPF), we evaluated clinical, laboratory, and bronchoalveolar lavage (BAL) data at the onset of IPF in 25 patients who survived beyond 1 yr (nine women and 16 men, 59 +/- 3 yr of age, mean +/- SE). When the patients were divided into two groups according to whether they had or did not have mucous hypersecretion, 11 patients with hypersecretion (Group A) had a poorer survival rate (6 yr) than did 14 patients without hypersecretion (Group B) (10 yr) (p less than 0.01). Further, there was a significant negative correlation between sputum volume and the duration of survival in 25 patients (r = -0.55, p less than 0.01). Before glucocorticoid treatment, we also found significantly larger numbers of neutrophils (17%) and eosinophils (5%) in differential cell counts of bronchoalveolar lavage fluid (BALF) in Group A than in Group B (neutrophils, 1%; eosinophils, 0.6%) (p less than 0.05 each). Chest radiographic findings and other laboratory data including pulmonary function tests did not correlate with the survival rate. These findings suggest that mucous hypersecretion as well as neutrophils and eosinophils in BALF are among the determinants of prognosis in patients with chronic IPF.