We present the case of a patient with primary ciliary dyskinesia who later developed clinically probable multiple system atrophy. Multiple system atrophy is a sporadic neurodegenerative disorder clinically characterised by various combinations of parkinsonism, cerebellar ataxia, autonomic failure, and pyramidal sign. Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia and results in chronic bronchitis, bronchiectasis, chronic rhinosinusitis, chronic otitis media, situs inversus, and male infertility. Most of the causative genes for primary ciliary dyskinesia encode proteins that are part of the heavy or intermediate chain of axonemal dynein in ciliary outer dynein arms. We hypothesised that axonemal dynein dysfunction in primary ciliary dyskinesia results in reduced autophagy, accompanied by impaired cytoplasmic dynein function, which in turn accelerates -synucleinopathy in multiple system atrophy. Furthermore, we contemplated a potential association between primary cilia and neuronal function. Although it is not yet clear if a causal link between multiple system atrophy and primary ciliary dyskinesia exists, further investigation into the relationship between axonemal dynein dysfunction in primary ciliary dyskinesia and α-synucleinopathy should be conducted.

A 19-year-old girl was admitted to our hospital with nausea, vomiting, hiccups, constipation and syncope. After hiccups or vomiting sinus arrest developed and lasted more than 5-8 seconds. She lost consciousness every one hour. Based on an electrocardiographic diagnosis of sick sinus syndrome (SSS), a temporary pacemaker was implanted. The next day, although her syncope and bradycardia disappeared, she had orthostatic tachycardia of over 120 beats/minute and swelling of the legs, which led to a diagnosis of postural orthostatic tachycardia syndrome (POTS). Neurologically, she showed the right-sided tongue deviation and parasympathetic system disorders revealed by coefficient of variation of R-R interval (CV_R-R), the Achner eye-ball pressure test, the valsalva ratio, and the head-up-tilt test. Brain MRI disclosed a small hyperintense lesion on a T2-weighted image with gadolinium enhancement in the right dorsal medulla including the hypoglottis nucleus and the posterior nucleus of vagus. After steroid pulse therapy (methyl prednisolone 1 g/day×3 days, 5 times) was administered, this lesion became smaller and finally disappeared. Before the lesion disappeared, she was able to begin rehabilitation by wearing elastic stockings and treatment with midodrine hydrochloride. The following year, she developed other MRI-proven brain lesions, suggestive of demyelination. Such a spinal and temporal distribution of lesions led to a diagnosis of multiple sclerosis (MS). A case of POTS caused by MS has not been reported previously, however, MS often affects the medullary paraventricular regions associated with autonomic failures. Autonomic failures often prevent patients from experiencing early rehabilitations. We should promptly give symptomatic treatment against autonomic failures, which leads to good patient recovery not only in patient vitality but also functionality.

We investigated annual changes with respect to the period taken from the onset of illness to the prescription of lower extremity orthoses in hemiplegic patients after stroke, retrospectively from 1992 to 2007, in an acute phase hospital. We subdivided the initial period into three parts : the period of time from onset to the beginning of rehabilitation (T1), from the beginning of rehabilitation to the beginning of rehabilitation in the training room (T2), and from the beginning of rehabilitation in the training room to prescription (T3). Analysis was made with respect to the relationship between each of the aforementioned periods and the prescription time. Furthermore, we also analyzed the relationship between the length of stay of patients who had been prescribed orthoses, and the prescription time. The prescription time was found to have gradually shortened over time ; moreover, the period in question shortened in a rapid way in 2001, as compared with previous years (p <0.05). T3 showed the highest correlation coefficient (r =0.99), and the length of stay also exhibited a high correlation coefficient (r =0.97). We assume that the annual changes in prescription time might have been due to various underlying factors, namely, social factors, such as a shortening of the length of stay, caused by the differentiation of roles among hospitals, as well as medical factors such as the development of acute phase rehabilitation, or changes in perception of the ways in which orthoses may be used for stroke patients by rehabilitation staff.

Physical performance measures, such as gait speed, one-legged stance and hand-grip strength, are known as assessment measures of motor function and predictors for adverse health outcomes, and widely used for assessing motor function in preventive programs for long-term care or screening of frail elderly. However, there is no standard assessment sheet for feedback of the results. In the present study, an assessment sheet on physical performance measures for community-dwelling older adults was developed. A pooled analysis of data from six cohort studies, including urban and rural areas was conducted as part of the Tokyo Metropolitan Institute of Gerontology Longitudinal Interdisciplinary Study on Aging. The pooled analysis included cross-sectional data from 4683 nondisabled, community-dwelling adults aged 65 years or older. Quintiles were derived according to age and sex group for six physical performance measures, i.e., hand-grip strength, one-legged stance, and gait speed and step length at both usual and maximum paces. The assessment sheets, which indicated the physical performance level according to age and sex, were developed by fitting third order polynomial curves to the data. The reference values in the present assessment sheet were considered to be derived from better represented community-dwelling older adults by using more large-scale population-based cohort data than that in the previous study. The assessment sheet should be useful for feeding back results on physical performance measures to elderly individuals and help them better understand their own physical performance levels.

BACKGROUND: Waldenström Macroglobulinemia (WM) is a rare subtype of indolent B-cell lymphoma, and prospective randomized studies on WM are scarce. The R-CHOP therapy [rituximab (R), cyclophosphamide, hydroxy-doxorubicin, vincristine, and prednisone] is a popular and recommended regimen for primary therapy, prescribed by several treatment guidelines for WM. However, treatment with R-CHOP is accompanied by severe myelosuppression and high rates of peripheral neuropathy. Therefore, we retrospectively evaluated the efficacy and toxicity of half-dose CHOP combined with R as a primary therapy for WM. METHODS: Patients with untreated symptomatic WM, treated at the Disaster Medical Center between April 2011 and September 2016, were retrospectively analyzed after administration of 6 cycles of half-dose R-CHOP for every 3 weeks. The response, median time to response, best response, progression-free survival, overall survival, and toxicities were evaluated. RESULTS: Of the 20 WM patients analyzed, 16 (80%) received half-dose R-CHOP without vincristine, and 13 (65%) responded to the treatment. With a median follow-up duration of 26.3 months, the 2-year progression-free survival and 2-year overall survival rates were 70 and 93.3%, respectively. The median time to response and best response were 6 and 9.9 weeks, respectively. Grade 3/4 leukocytopenia, neutropenia, febrile neutropenia, and Grade 1 peripheral neuropathy developed in 32, 37, 0, and 21% of patients, respectively. CONCLUSION: The half-dose R-CHOP is an effective and well-tolerated primary therapy for WM. To the best of our knowledge, this is the first study reporting the use of a reduced-dose R-CHOP regimen for the primary treatment of WM.
Cyclophosphamide ; Disasters ; Disease-Free Survival ; Febrile Neutropenia ; Follow-Up Studies ; Humans ; Leukopenia ; Lymphoma, B-Cell ; Neutropenia ; Peripheral Nervous System Diseases ; Prospective Studies ; Retrospective Studies ; Rituximab* ; Survival Rate ; Vincristine ; Waldenstrom Macroglobulinemia*

Neoadjuvant chemotherapyeoadjuvant chemoradiotherapy (NAC/NACRT) can be performed in patients with pancreatic cancer to improve survival. We aimed to clarify the clinical outcomes of biliary drainage with a metal stent (MS) or a plastic stent (PS) during NAC/NACRT. Between October 2013 and April 2016, 96 patients with pancreatic cancer were registered for NAC/NACRT. Of these, 29 patients who underwent biliary drainage with MS or PS before NAC/NACRT and a subsequent pancreatoduodenectomy were retrospectively analyzed with regard to patient characteristics, preoperative recurrent biliary obstruction rate, NAC/NACRT delay or discontinuation rate, and operative characteristics. The median age of the patients was 67 years. NAC and NACRT were performed in 14 and 15 patients, respectively, and MS and PS were used in 17 and 12 patients, respectively. Recurrent biliary obstruction occurred in 6% and 83% of the patients in the MS and PS groups, respectively (p<0.001). NAC/NACRT delay was observed in 35% and 50% of the patients in the MS and PS groups, respectively (p=0.680). NAC/NACRT discontinuation was observed in 12% and 17% of the patients in the MS and PS groups, respectively (p=1.000). The operative time in the MS group tended to be longer than that in the PS group (625 minutes vs 497 minutes, p=0.051), and the operative blood loss volumes and postoperative adverse event rates were not different between the two groups. MS was better than PS from the viewpoint of preventing recurrent biliary obstruction, although MS was similar to PS with regards to perioperative outcomes.