The Tohoku journal of experimental medicine
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Tohoku J. Exp. Med. · Jan 2020
Case ReportsAn Early-Onset Neuronopathic Form of Acid Sphingomyelinase Deficiency: A SMPD1 p.C133Y Mutation in the Saposin Domain of Acid Sphingomyelinase.
Acid sphingomyelinase (ASM) is a lysosomal hydrolase that degrades sphingomyelin into ceramide and phosphocholine. Recent crystallographic studies revealed the functional role of the N-terminal ASM saposin domain. ASM deficiency due to mutations in the ASM-encoding sphingomyelin phosphodiesterase 1 (SMPD1) gene causes an autosomal recessive sphingolipid-storage disorder, known as Niemann-Pick disease Type A (NPA) or Type B (NPB). ⋯ These results suggest that the proper three-dimensional structure of saposin domain may be essential for ASM catalytic activity. Thus, p. C133Y is associated with complete loss of ASM activity even with stable protein expression and proper subcellular localization.
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Tohoku J. Exp. Med. · Jan 2020
A Nationwide Survey of Obstetric Care Status on Japan's Islands, with Special Reference to Maternal Transport to the Mainland.
Safe obstetric care is a worldwide requirement. In Japan, a reduced number of obstetricians has prompted the centralization of obstetric facilities, and Japan's islands are expected to experience problems in handling deliveries. Although many pregnant women "move" to the mainland at later gestational weeks, "transport" from the island to the mainland may be occasionally needed when disorders manifest before the "move." Other women plan within-island deliveries; however, transport is required when complications arise. ⋯ Transport was mainly in response to threatened preterm labor. Adverse weather was the most frequent factor affecting transport reliability. Our findings may contribute to a more detailed understanding of the state of obstetric care on Japan's islands.
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Tohoku J. Exp. Med. · Jan 2020
Absence of Relatives Impairs the Approach of Nurses to Cardiopulmonary Resuscitation in Non-Cancer Elderly Patients without a Do-Not-Attempt-Resuscitation Order: A Vignette-Based Questionnaire Study.
A Do-Not-Attempt-Resuscitation (DNAR) order solely precludes performing cardiopulmonary resuscitation (CPR) following cardiopulmonary arrest. A patient's personal status is known to influence a range of clinical practices, not only CPR, when a DNAR order is given. We assessed whether the absence of supporting relatives or a diagnosis of dementia can influence nurses' perceptions of clinical practices for elderly patients with non-malignant and chronic diseases. ⋯ No significant differences were observed between the dementia and control vignettes. Absence of contactable relatives and resultant lack of communication can diminish the perception of nurses regarding the provision of CPR, even when a DNAR does not exist. This result suggests a necessity for comprehensive training all medical staff about issuance of DNAR orders and what care should be provided thereafter.
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Tohoku J. Exp. Med. · Jan 2020
Efficacy and Safety of Targeted Strategy for Treating Rheumatoid Arthritis Patients Aged 75 Years or Older.
The efficacy and safety of targeted treatment for elderly patients with rheumatoid arthritis (RA) was considered. Patients with RA who met the ACR/EULAR 2010 classification criteria and were treated consecutively for > 3 years, were recruited and classified into three age groups with 10-year increments from 65 years. Treatment protocol that aims to achieve clinical remission within 6 months was commonly adopted. ⋯ However, the prevalence of adverse events, especially serious infection, in the oldest group was higher than that in the younger groups, which was likely attributable to the higher frequency of administration of glucocorticoid steroid after minimum disease activity obtained and higher prevalence of cardiovascular comorbidities. Targeted treatment is feasible even for patients aged ≥ 75. However, glucocorticoid steroid administration is considered as a risk of adverse events and should be tapered immediately.
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Tohoku J. Exp. Med. · Jan 2020
Preventive Effect of Tonsillectomy on Recurrence of Henoch-Schönlein Purpura Nephritis after Intravenous Methylprednisolone Pulse Therapy.
Henoch-Schönlein purpura (HSP) is regarded as a benign and self-limiting vasculitis characterized by purpura, arthritis, and gastrointestinal symptoms; however, about one third of the patients develop HSP nephritis (HSPN), the most serious long-term complication. Since 2013, we have proposed that tonsillectomy in addition to intravenous methylprednisolone pulse therapy (IVMP) be performed in all patients with HSPN, similar to immunoglobulin A nephropathy (IgAN) patients because both diseases are considered to a share common pathogenesis. ⋯ For the 2 years after IVMP therapy, the rate of HSPN recurrence (i.e., persistent proteinuria combined with hematuria requiring additional treatments) after clinical remission was significantly lower in the tonsillectomy group than the IVMP group (0% vs. 19%, P < 0.05). Despite the short follow-up period in the tonsillectomy group, this study provides the evidence that tonsillectomy may be beneficial for preventing recurrence of HSPN from clinical remission with IVMP therapy in Japanese children.