Nagoya Journal of Medical Science最新文献

Psychiatric disorders are highly inheritable, and most psychiatric disorders exhibit genetic overlap. Recent studies associated the 3q29 recurrent deletion with schizophrenia (SCZ) and autism spectrum disorder (ASD). In this study, we investigated the association of genes in the 3q29 region with SCZ and ASD. TM4SF19 and PAK2 were chosen as candidate genes for this study based on evidence from previous research. We sequenced TM4SF19 and PAK2 in 437 SCZ cases, 187 ASD cases and 524 controls in the Japanese population. Through targeted sequencing, we identified 6 missense variants among the cases (ASD & SCZ), 3 missense variants among controls, and 1 variant common to both cases and controls; however, no loss-of-function variants were identified. Fisher's exact test showed a significant association of variants in TM4SF19 among cases (p=0.0160). These results suggest TM4SF19 variants affect the etiology of SCZ and ASD in the Japanese population. Further research examining 3q29 region genes and their association with SCZ and ASD is thus needed.

As the Japanese population continues to age steadily, the number of older adults requiring healthcare has increased. Evidence demonstrates that hospitalization for acute care has a negative impact on the health outcomes of older adults. Frail older adults tend to have multifactorial conditions collectively known as "geriatric syndromes." When those with these premorbid conditions are hospitalized for acute care, they tend to develop new problems such as delirium and new functional impairments. Adverse consequences of hospitalization include the risk of loss of functional independence and chronic disability. In 2019, the new concept of "hospital-associated complications" (HACs) was proposed to describe these new problems. HACs comprise five conditions: hospital-associated falls, delirium, functional decline, incontinence, and pressure injuries. This review discusses the important issues of HACs in relation to their classification, prevalence, risk factors, prevention, and management in older adults hospitalized for acute care. Robust prevention and management are imperative to address the serious consequences and escalating medical costs associated with HACs, and a multidimensional and multidisciplinary approach is key to achieving this goal. Comprehensive geriatric assessment (CGA) is the cornerstone of geriatric medicine and offers a holistic approach involving multidisciplinary and multidimensional assessments. Considerable evidence is accumulating regarding how CGA and coordinated care can improve the prognosis of hospitalized older adults. Further research is needed to understand the occurrence of HACs in this population and to develop effective preventive measures.

We previously reported the Marimo cell line, which was established from the bone marrow cells of a patient with essential thrombocythemia (ET) at the last stage after transformation to acute myeloid leukemia (AML). This cell line is widely used for the biological analysis of ET because it harbors CALR mutation. However, genetic processes during disease progression in the original patient were not analyzed. We sequentially analyzed the genetic status in the original patient samples during disease progression. The ET clone had already acquired CALR and MPL mutations, and TP53 and NRAS mutations affected the disease progression from ET to AML in this patient. Particularly, the variant allele frequency of the NRAS mutation increased along with the disease progression after transformation, and the NRAS-mutated clone selectively proliferated in vitro, resulting in the establishment of the Marimo cell line. Although CALR and MPL mutations co-existed, MPL was not expressed in Marimo cells or any clinical samples. Furthermore, mitogen-activated protein kinase (MAPK) but not the JAK2-STAT pathway was activated. These results collectively indicate that MAPK activation is mainly associated with the proliferation ability of Marimo cells.

Radiotherapy combined with temozolomide (TMZ+RT) is the primary treatment for high-grade glioma. TMZ is classified as a moderate emetic risk agent and, thus, supportive care for nausea and vomiting is important. In Nagoya University Hospital, all patients are treated with a 5-hydroxy-tryptamine 3 receptor antagonist (5-HT₃RA) for the first 3 days. The daily administration of 5-HT₃RA is resumed after the 4th day based on the condition of patients during TMZ+RT. Therefore, the present study investigated risk factors for nausea and vomiting in patients requiring the daily administration of 5-HT₃RA. Patients with high-grade glioma who received TMZ+RT between January 2014 and December 2019 at our hospital were included. Patients were divided into two groups: a control group (patients who did not resume 5-HT₃RA) and resuming 5-HT₃RA group (patients who resumed 5-HT₃RA after the 4th day), and both groups were compared to identify risk factors for nausea and vomiting during TMZ+RT. There were 78 patients in the control group (68%) and 36 in the resuming 5-HT₃RA group (32%). A multivariate analysis of patient backgrounds in the two groups identified age <18 years, PS 2 or more, and occipital lobe tumors as risk factors for nausea and vomiting. Nausea and vomiting were attenuated in 30 patients (83%) in the resuming 5-HT₃RA group following the resumption of 5-HT₃RA. The results obtained highlight the importance of extracting patients with these risk factors before the initiation of therapy and the early resumption or daily administration of 5-HT₃RA according to the condition of each patient.

Pregnancy is an excellent opportunity to provide medical interventions to women. It is also a stress test used to predict health. Numerous studies have demonstrated that the pre-pregnancy body mass index (BMI) and gestational weight gain (GWG) are critical factors for pregnancy complications such as hypertensive disorders of pregnancy (HDP), gestational diabetes mellitus (GDM), large or small gestational age infants, and spontaneous preterm birth (sPTB). These complications are associated with an increased risk of cardiovascular disease (CVD), which is a leading cause of mortality in women. In addition, complications adversely affect the short- and long-term prognoses of children. Optimal GWG to reduce complications is recommended based on pre-pregnancy BMI; however, racial differences should also be noted. The values in the Japanese guidelines are lower than those in the American Institute of Medicine guidelines. The Asian BMI thresholds for CVD risk are also lower than those in Europe. Therefore, weight management should be based on racial/genetic background. Interpregnancy weight gain or loss has also been reported to be associated with the risk of pregnancy complications; however, few studies have been conducted in Asian populations. Our previous reports suggested that avoiding an excess of 0.6 kg/m²/year of annual BMI gain may reduce the risk of HDP or GDM, and insufficient gain of < 0.25 kg/m²/year may increase sPTB recurrence. Annual BMI is useful for practical weight control during interpregnancy. Based on these findings, effective approaches should be established to improve the health of women and their offspring.

Advanced glycation end products (AGEs) have been reported to be associated with osteoporosis, aging, sarcopenia, and frailty. This study aimed to investigate the association AGEs with locomotive syndrome (LS). Participants were Japanese individuals aged 39 years or older who participated in the Yakumo Study (n=230). AGEs were measured by skin autofluorescence (SAF) using an AGE reader. We investigated SAF values for each locomotive stage. Multivariate logistic regression models were used to calculate the odds ratios of LS-associated factors. The relationships between SAF and physical performance and bone mineral density (BMD) were investigated. A receiver operating characteristic (ROC) curves were generated to determine the optimal cut-off value of SAF for predicting LS. SAF values tended to increase correspondingly with LS severity. SAF was an independently explanatory factor for LS (odds ratio 2.70; 95% confidence interval [CI] 1.040-6.990). SAF was positively correlated with the 10-m walking speed, The Timed Up and Go test results, and was negatively correlated with BMD. ROC curve represented by SAF for the presence or absence of LS risk had an area under the curve of 0.648 (95% CI: 0.571-0.726). High SAF values were identified as an independent risk factor for LS. AGEs could be a potential screening tool for people for LS.

Exercise improves physical health and positively impacts physical functions in children. Additionally, the habitual exercise established during childhood often continues into adulthood. Therefore, childhood is an important period for establishing healthy habits. Investigating the relationship between the presence or absence of daily exercise and physical functions may provide important information to confirm poor physical function in children with poor exercise habits. Therefore, this study examined the relationship between exercise habits as defined by the Japanese Ministry of Health, Labor, and Welfare and physical function in children aged 9-12 years. Approximately 239 children were included in this study. Participants answered a questionnaire about their exercise habits. We evaluated the skeletal muscle mass index, grip strength, standing broad jump, one-leg standing time, and gait deviation index. Logistic regression analyses were performed to assess exercise habit association with skeletal muscle mass index, physical function, and gait deviation index after adjusting for sex. Of the 239 children, 75.5% (n = 178) had exercise habits. A significant association was noted between exercise habits and skeletal muscle mass index and standing broad jump (skeletal muscle mass index: OR, 1.84; 95% CI, 1.01-3.36 and p<0.05; standing long jump: OR, 1.02; 95% CI, 1.00-1.04 and p<0.05). In conclusion, exercise regardless of exercise level for at least 30 min per day, 2 days per week, for at least 1 year is important for skeletal muscle mass and instantaneous lower limb muscular strength development in school-aged children.

The radial artery has been used increasingly for percutaneous coronary intervention because of its safety and feasible access route. Nevertheless, transradial complications are possible because of the variation in radial artery anatomy. We experienced a case of the brachioradial artery injury secondary to catheterization, presenting as hypovolemic shock. A 76-year-old woman presented at our emergency department complaining of effort-induced angina. Coronary angiography via the right radial artery showed critical stenosis in the middle of the left anterior descending coronary artery. After wiring into this vessel, balloon angioplasty using a 6-Fr Judkin left guiding catheter was performed with the deployment of the zotarolimus-eluting stent. There was difficulty in negotiating the guidewire and balloons in that resistance was experienced while passing the catheter in the upper arm. Therefore, retrograde radial arteriography was performed to determine any injury to radial artery. This showed contrast extravasation in the brachioradial artery. Initially, manual compression was tried. However, 2 hours later, the patient developed cold sweating and went into a stupor. Laboratory findings showed a decline in hemoglobin, leading to suspicion of hemorrhagic shock. We applied over 30 minutes of balloon inflation, but this was ineffective. While surgical repair was not available, a 6.0 × 50 mm Viabahn stent was placed over the axillary artery. Subsequent angiography showed no further leakage or occlusion of the brachioradial artery. The postprocedural period was uneventful, and the patient was discharged with dual antiplatelet agents. At a 7-year clinical follow-up, the patient was free from limb ischemia symptoms.

Prostaglandin E1 intracavernous injection test is an established method for diagnosing erectile dysfunction. However, the evaluation is non-objective and often influenced by the evaluator's subjectivity. Herein, we measured and objectively evaluated shear wave elastography results of the corpus cavernosum before and after injection in 16 patients who underwent prostaglandin E1 testing. The response score of prostaglandin E1 tests were "1" in 2 cases, "2" in 2 cases, and "3" in 12 cases. The average transmission velocity before the injection and at the time of maximum erection after the injection were 2.21 m/s and 1.57 m/s, respectively. Transmission velocity decreased during erection in 14 of 16 cases (87.5%). The overall rate of change in transmission velocity due to injection was -26.7% and was significantly different between the poor (responses 1 and 2: -16.1%) and good erection (response 3: -30.2%) groups. To the best of our knowledge, this is the first attempt to evaluate erectile phenomenon using percutaneous ultrasonic elastography in Japan. Rate of change in shear wave transmission velocity due to prostaglandin E1 injection in the corpus cavernosum penis was associated with the degree of erection. Therefore, the rate of change in shear wave transmission velocity in the corpus cavernosum penis could be used as an objective index of erectile phenomenon. Percutaneous ultrasonic elastography is a non-invasive and useful test method for diagnosing erectile dysfunction, determining the therapeutic effect, and predicting prognosis.

We compared the relationship between foot alignments and quality of life in patients who underwent initial total knee arthroplasty (TKA). Among the patients with knee osteoarthritis (KOA) who underwent TKA from May 2015 to May 2017 at our hospital, we focused on those in whom weight-bearing foot radiographs had been evaluated preoperatively. The hallux valgus angle and Meary angle were measured by preoperative radiography, and those with hallux valgus angles of 20 degrees or more were classified into the hallux valgus (HV) group, and those with Meary angles of 4 degrees or more into the high arch (HA) group. Also knee and ankle range of motion, knee pain Visual Analog Scale, and the 36-item short-form health survey (SF-36) were measured preoperatively and at discharge, and the amount of these changes was compared in the presence/absence of HV and HA. Regarding HV, there were no significant differences in any of these items between the HV and non-HV groups. However, the SF-physical function was significantly lower in the HA group than in the normal group. In addition, ankle dorsiflexion was lower in the HA group than that in the normal group, although this difference was not statistically significant. There was little improvement of the ankle dorsiflexion, and it was associated with deterioration of the physical function items of SF-36. In total knee arthroplasty patients with HA, physical therapy of the ankles and feet, as well as of the knees, was considered to enhance the improvement of physical function.