No abstract

Eolian quartz flux (EQF, g cm−2(103 yr)−1) to Lake Biwa, central Japan, provides direct information on variations of the East Asian winter monsoon. Lake Biwa sediments spanning the past ca. 145,000 yr are characterized by two main periods when EQF values were significantly greater than 5.50 g cm−2(103 yr)−1, and two main intervals during which EQF values were lower. Two periods with EQF values >5.50 g cm−2(103 yr)−1occurred from ca. 145,000 to 125,000 and 73,000 to 13,000 yr B.P., while times of lower EQF values occurred from ca. 125,000 to 73,000 yr B.P. and around ca. 5500 yr B.P. Between ca. 125,000 and 73,000 yr B.P., three minimum EQF values and two intervening peaks of slightly higher EQF values are recorded. EQF increased markedly from ca. 73,000 to 13,000 yr B.P., whereas between ca. 53,000 and 20,000 yr B.P. the values recorded were relatively lower than those recorded during either the preceding or the subsequent episodes. The data imply that the East Asian winter monsoon strengthened during the periods when EQF values were high, and weakened during the intervals with low EQF values. The EQF record of Lake Biwa can be correlated with the grain-size record of the quartz fraction in Chinese loess and with the SPECMAP marine δ18O record. However, the EQF record apparently lags ca. 5000 yr behind the loess and δ18O records during stage 6/5 and 2/1 transitions and ca. 10,000 yr during stage 5/4 transition. These apparent lags could be due to problems with the chronology; alternatively, they may imply that the eolian quartz flux depended more on the extent of dust source regions than on wind intensity during these transitions.

ABSTRACT. Objective. To develop and to assess the clinical impact of a near-television quality home digital videophone system (Integrated Services Digital Network [ISDN] 64, 320 ؋ 200 resolutions, 10 to 12 frames per second), which would provide respiratory care specialists' resources to primary care physicians and their pediatric patients receiving home respiratory care.Method. A prospective study comparing the preceding 6 months and following 6 months of implementation of a videophone system on seven pediatric home respiratory care patients (group I) and a prospective analytical study of three patients (group II) being introduced to home ventilatory care were carried out. Clinical effectiveness and time-saving benefits were studied.Results. There were large reductions in the number of house calls by the physicians (from 5 to 0), unscheduled hospital visits by patients (from 24 to 5), and hospital admission days (from 22 to 10), with a fivefold increase in phone calls (from 11 to 58) in group I. This reduced the net number of hours spent by both patients and physicians in unscheduled medical care by 95 hours for the patients and 51.2 hours for the physicians. A total of 45 videophone calls, of which 27 were related to mechanical concerns and 18 to medical concerns, were made in group II. There were 7 mechanical and 10 medical problems of clinical significance, but all were directly handled by physicians by videophone. The majority (35 of 45) of videophone calls were made in the first 3-month period, indicating a decrease in nonspecific concerns after this period. The specifications of the system we used were found acceptable by both patients and health care professionals. The system seemed to be useful in effectively using the time of specialists and in relieving the anxieties of families. No deleterious effects were noted. The current initial cost is substantial but rapidly falling. The running cost is similar to a regular telephone bill when one ISDN 64 line is used.Conclusions. The videophone system using ISDN 64 can now be considered a practical and effective tool to recruit specialist resources into home care and to improve the quality of pediatric home ventilatory care. This study encourages the use of videophones to help establish designated home care support systems that may extend beyond national borders and time zones. Pediatrics 1997; 99(1). URL: http://www.pediatrics.org/cgi/content/full/99/ 1/e1; home care, videophone, telemedicine, Integrated Services Digital Network.

No abstract

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by SMN1 gene deletion/mutation. The drug nusinersen modifies SMN2 mRNA splicing, increasing the production of the full-length SMN protein. Recent studies have demonstrated the beneficial effects of nusinersen in patients with SMA, particularly when treated in early infancy. Because nusinersen treatment can alter disease trajectory, there is a strong rationale for newborn screening. In the current study, we validated the accuracy of a new system for detecting SMN1 deletion (Japanese patent application No. 2017-196967, PCT/JP2018/37732) using dried blood spots (DBS) from 50 patients with genetically confirmed SMA and 50 controls. Our system consists of two steps: (1) targeted pre-amplification of SMN genes by direct polymerase chain reaction (PCR) and (2) detection of SMN1 deletion by real-time modified competitive oligonucleotide priming-PCR (mCOP-PCR) using the pre-amplified products. Compared with PCR analysis results of freshly collected blood samples, our system exhibited a sensitivity of 1.00 (95% confidence interval [CI] 0.96–1.00) and a specificity of 1.00 (95% CI 0.96–1.00). We also conducted a prospective SMA screening study using DBS from 4157 Japanese newborns. All DBS tested negative, and there were no screening failures. Our results indicate that the new system can be reliably used in SMA newborn screening.