Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients

AbstractHolocarboxylase synthetase (HCS) deficiency is an inherited disease of biotin metabolism characterized by a unique pattern of organic aciduria, metabolic acidosis, and skin lesions. By analysis of five patients in four unrelated families, two mutations were identified: a transition from T to C which causes an amino-acid substitution of proline for leucine at position 237 (L237P) and a single deletion of guanine (delG 1067) followed by premature termination. One patient was homozygous for the L237P mutation, three patients in two families were compound heterozygotes of the missense and deletion alleles, and the other patient was heterozygous for the L237P mutation. Inheritance was successfully demonstrated in all of the patients' families by a modified PCR followed by restriction enzyme digestion. The two mutations accounted for seven of eight mutant alleles, while neither mutation was detected in 108 normal healthy Japanese children (216 alleles). Transient expression in cultured fibroblasts from a patient showed that the L237P mutation was responsible for decreased HCS activity. These results suggest that the L237P and delG1067 mutations are frequent disease-causing mutations in Japanese patients with HCS deficiency. This PCR-based technique may therefore be useful for detecting mutations among Japanese patients

“Diagnose, Treat, and SUPPORT”. Clinical competencies in the management of older adults with aspiration pneumonia: a scoping review

Background Aspiration pneumonia in older adults is increasingly common, with a high care burden and morbidity. However, clinical competencies in its management have not been developed, and healthcare professionals struggle on how to care for these patients with multimodal treatment needs. Therefore, we conducted a scoping review to investigate what is known about the desired clinical competencies for the management of older adults with aspiration pneumonia, to utilise in clinical practice, education, and future research. Methods First, we defined aspiration pneumonia according to a preliminary search. We then searched the literature on MEDLINE and CINAHL, focusing on studies involving patients aged 65 years old and older diagnosed with aspiration pneumonia. All settings were included, with the exception of intensive care units. Publication dates were limited to January 2011 to July 2022 and languages to English and Japanese. The extracted data were used to refine the preliminary competency framework developed by the Japan Aspiration pneumonia inter-Professional team Educational Program (JAPEP) in preparation of this study. Results Ninety-nine studies were included. Following data extraction from these studies, 3 competencies were renamed, and 3 new competencies were added, to create a list of 12 competencies. These were Diagnosis, Treatment, Swallow Assessment, Underlying condition management, Nutrition, Oral management, Rehabilitation, Multidisciplinary team, Decision making, Prevention, Prognosis, and Palliative care. Conclusions Our scoping review identified 12 clinical competencies required in the management of older adults with aspiration pneumonia, outlined in the phrase ‘Diagnose, Treat and SUPPORT’. We encourage healthcare professionals to share these competencies as a team to identify areas of unmet need and improve their patient care, with an emphasis on supportive care

Role of Nitrogen on Growth and Seed Yield of Soybean and a New Fertilization Technique to Promote Nitrogen Fixation and Seed Yield

Soybean is an important crop for human food and feed for livestock. World soybean production is increasing especially in North and South America. Soybean seeds contain a high percentage of protein about 35–40%, and they require a large amount of nitrogen compared with other crops. Soybean plants make root nodules with rhizobia, and rhizobia can fix atmospheric N2 and give the fixed N to the host soybean plants. Also, soybean can absorb nitrogen usually nitrate from soil or fertilizers. The amount of total assimilated nitrogen in shoot is proportional to the soybean seed yield either from nitrogen fixation or from nitrogen absorption, and the nitrogen availability is very important for soybean cultivation. Maintenance of a high and long-term nitrogen fixation activity is very important for a high production of soybean. However, application of chemical nitrogen fertilizers usually depresses nodule formation and nitrogen fixation. Nitrate in direct contact with a nodulated part of roots causes severe inhibition of nodule growth and nitrogen fixation, although a distant part of nodules from nitrate application gives no or little effect. Deep placement of slow-release nitrogen fertilizers, coated urea, or lime nitrogen promoted the growth and seed yield and quality of soybean without depressing nitrogen fixation

Conservative kidney management and kidney supportive care:core components of integrated care for people with kidney failure

Integrated kidney care requires synergistic linkage between preventative care for people at risk for chronic kidney disease and health services providing care for people with kidney disease, ensuring holistic and coordinated care as people transition between acute and chronic kidney disease and the 3 modalities of kidney failure management: conservative kidney management, transplantation, and dialysis. People with kidney failure have many supportive care needs throughout their illness, regardless of treatment modality. Kidney supportive care is therefore a vital part of this integrated framework, but is nonexistent, poorly developed, and/or poorly integrated with kidney care in many settings, especially in low- and middle-income countries. To address this, the International Society of Nephrology has (i) coordinated the development of consensus definitions of conservative kidney management and kidney supportive care to promote international understanding and awareness of these active treatments; and (ii) identified key considerations for the development and expansion of conservative kidney management and kidney supportive care programs, especially in low resource settings, where access to kidney replacement therapy is restricted or not available. This article presents the definitions for conservative kidney management and kidney supportive care; describes their core components with some illustrative examples to highlight key points; and describes some of the additional considerations for delivering conservative kidney management and kidney supportive care in low resource settings.</p

Psychonephrology in Japan

Abstract Psychonephrology is the field of study encompassing nephrology, psychiatry, and psychosomatic medicine, which is based on the concept of consultation-liaison within the biopsychosocial model of mind–body unity. The Japanese Society for Psychonephrology was founded in Japan in 1990 to resolve psychological problems in dialysis patients and renal transplant patients, for whom survival time has increased. Patients with chronic kidney disease (CKD) face various psychological burdens during the time leading up to the initiation of renal replacement therapy (RRT) or through to the continuation of RRT. Patients with CKD may experience high levels of stress, poor physical conditions, medication side effects, as well as adjustment disorders and anxiety/depression. Additionally, close relationships between these patients and their family and medical staff can cause psychological stress in these other individuals. The three main domains in psychonephrology concern psychological care for patients, which includes drug therapy, psychotherapy, and environmental adjustments; interventions for psychosomatic disorders; and mental health care for staff involved in RRT. Interdisciplinary collaboration among psychiatrists, psychotherapists, nephrologists, transplant surgeons, and paramedics to resolve patients’ problems has been promoted. Future developments in psychonephrology include adhering to patients’ desires regarding discontinuation/withholding of dialysis and palliative care and shared decision-making during the time leading up to RRT. Further development of psychonephrology in Japan will help to maintain higher levels of quality of life in CKD patients and provide relief for their psychological issues

Effect of the Nitrification Inhibitor 3,4-Dimethylpyrazole Phosphate on the Deep Placement of Nitrogen Fertilizers for Soybean Cultivation

The deep placement of urea fertilizer (DMU) containing 1% (W/W) of the nitrification inhibitor 3,4-dimethylpyrazole phosphate (DMPP) on soybean growth and seed yield was as effective as those of the coated urea (CU) and lime nitrogen (LN) in a field research. The average seed yields were high in LN (464 g·m−2) and DMU (461 g·m−2) and relatively low in CU (405 g·m−2), U (396 g·m−2), and Cont (373 g·m−2) treatments. The accumulations of dry matter and nitrogen in soybean shoots were higher in the plants with deep placement of CU, LN, and DMU than U and Cont. The daily nitrogen fixation activity and daily nitrogen absorption rate were calculated based on the relative ureide method. Both nitrogen fixation activity and nitrogen absorption rate were higher in DMU, CU, and LN compared with control treatment, suggesting that the deep placement of DMU did not repress nitrogen fixation. Soil incubation test was performed using the same field soil with DMU, U, LN, and urea with DMPP 1%, 2%, and 4%. DMU inhibits nitrification similar to the pattern of LN until 8 weeks. The increasing DMPP concentration did not markedly increase the nitrification inhibition. From these results, it was concluded that urea fertilizer with 1% DMPP is efficient for deep placement of N fertilizer for soybean cultivation due to its lower price compared with CU and LN