Erythroid-specific 5-aminolevulinate synthase (ALAS2) is the rate-limiting enzyme for heme biosynthesis in erythroid cells, and the genetic mutations cause X-linked sideroblastic anemia. Although more than 90 kinds of genetic mutation of the gene have been reported previously, the genotype-phenotype relationship has experimentally examined only a part of these cases. We have previously identified approximately 20 kinds of mutation of the ALAS2 gene in patients with X-linked sideroblastic anemia and have reported them with experimental data as the cause of the disease. In this review article, we will discuss the role of in vitro analysis in diagnosing congenital sideroblastic anemia.
As the number of drugs prescribed for elderly patients with multiple comorbidities increases, the risk of leftover medicines increases accordingly. We conducted a survey of pharmacists at pharmacies. We surveyed the actual conditions of use of the prescriber’s checkbox for leftover medication, the information that pharmacists should provide to physicians when managing leftover medication, and the actual conditions of leftover medication management at pharmacies. We also discussed the issues involved in managing leftover medication. Many pharmacists checked for leftover medication regardless of whether or not the checkbox was marked. When managing the leftover medicine, many pharmacists wanted to provide not only information on the number of leftover medicines and the medication status but also suggestions for prescriptions based on the patient’s medication status. It was also found that a certain percentage of pharmacists were unaware of the existence of the checkbox. The survey revealed that for pharmacists to proactively manage leftover medications, it is necessary to promote the use of the checkbox, simplify the process of contacting physicians and providing information, and secure the manpower and time necessary to do so.
Sarcopenia was associated with postoperative complications and poor prognosis in various cancers. We aimed to evaluate quantitative and qualitative changes by using computed tomography ‹CT› during preoperative chemotherapy. We retrospectively reviewed 60 patients who received preoperative chemotherapy, followed by esophagectomy. We assessed the change in muscle mass and CT value of the bilateral iliopsoas and erector spinae muscles before and after chemotherapy and examined how these changes affect the postoperative period. The area of iliopsoas muscles significantly decreased between before and after chemotherapy ‹1217.3 ± 417.5 vs. 1123.4 ± 354.6, p < 0.001›. Meanwhile, there was no significant difference in the area of the erector spinae muscles. Although there was no significant difference in the CT value of iliopsoas muscles between before and after chemotherapy, the CT value of the erector spinae muscle significantly decreased ‹44.2 ± 11.6 vs. 42.5 ± 11.4, p = 0.015›. Our results indicated that chemotherapy might have a different effect on different muscles. It was suggested that the assessment of sarcopenia requires not only the assessment of muscle mass but also the assessment of fatty infiltration. We developed a simple and quantitative method to evaluate sarcopenia during preoperative chemotherapy by assessing CT value.
A girl weighing 322 g was born at 23 weeks of gestation by emergency cesarean section due to cardiac failure caused by maternal hypertension. She had delayed fecal excretion and abdominal distension, and developed gastrointestinal perforation on the eighth day of life. The baby was treated conservatively due to prematurity, and a colostomy was performed at 36 days of age. The postoperative diagnosis was intestinal distension caused by true diverticula. Enteral feeding was resumed after the operation, but at 90 days of age the stoma was inverted and prolapsed. Although manual repair was performed, the respiratory and circulatory dynamics gradually deteriorated with repeated prolapses and she died at 95 days of age. Intestinal intussusception in neonates is rare and difficult to diagnose pre-operatively because of its nonspecific symptoms. Proctocolectomy in extremely low birthweight infants is a difficult procedure with many complications.