Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series.

BACKGROUND: Six percent of patients with Leigh syndrome (LS) present with infantile epileptic spasms syndrome (IESS). However, treatment strategies for IESS with LS remain unclear. This retrospective study aimed to evaluate the efficacy and safety of treatment strategies in patients with IESS complicated by LS and Leigh-like syndrome (LLS). METHODS: We distributed questionnaires to 750 facilities in Japan, and the clinical data of 21 patients from 15 hospitals were collected. The data comprised treatment strategies, including adrenocorticotropic hormone (ACTH) therapy, ketogenic diet (KD) therapy, and antiseizure medications (ASMs); effectiveness of each treatment; and the adverse events. RESULTS: The median age at LS and LLS diagnosis was 7 months (range: 0 to 50), whereas that at the onset of epileptic spasms was 7 (range: 3 to 20). LS was diagnosed in 17 patients and LLS in four patients. Seven, two, five, and seven patients received ACTH + ASMs, ACTH + KD + ASMs, KD + ASMs, and ASMs only, respectively. Four (44%) of nine patients treated with ACTH and one (14%) of seven patients treated with KD achieved electroclinical remission within one month of treatment. No patients treated with only ASMs achieved electroclinical remission. Seven patients (33%) achieved electroclinical remission by the last follow-up. Adverse events were reported in four patients treated with ACTH, none treated with KD therapy, and eight treated with ASMs. CONCLUSION: ACTH therapy shows the best efficacy and rapid action in patients with IESS complicated by LS and LLS. The effectiveness of KD therapy and ASMs in this study was insufficient.

The role of nurses for patients with Parkinson's disease at home: a scoping review.

BACKGROUND: Parkinson's disease is a neurodegenerative disease, and many patients are cared for at home by nurses. Parkinson's disease nurse specialists have been certified in several countries. This study aimed to provide an overview of what is known about the role of nurses in the care of patients with Parkinson's disease at home and to determine the differences between nurses and Parkinson's disease nurse specialists. METHODS: A scoping review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews guidelines. PubMed, Scopus, Web of Science, and Cumulative Index to Nursing and Allied Health Literature were searched (keywords: Parkinson's disease AND nurse AND [community OR home]) for studies published in English up to September 2023 describing the nurse's role in caring for patients with Parkinson's disease at home. Studies without abstracts were removed, along with protocols, systematic reviews, and studies concerned with other diseases or including data that were difficult to distinguish from those of other diseases. Roles were described and organized by category. RESULTS: A total of 26 studies were included. The nurses' roles were categorized as overall assessment and support, treatment management, safety assessment regarding falls, care for non-motor symptoms, palliative care, support for caregivers, education for care home staff, multidisciplinary collaboration, and provision of information on social resources. Medication management and education of care home staff were identified as roles of nurse specialists. CONCLUSIONS: This study revealed the role of nurses caring for patients with Parkinson's disease at home. Because of the complexity of the patients' medication regimens, nurse specialists provide assistance, especially with medication management and the provision of education to care staff. This study will facilitate the preparation of nurses to acquire the knowledge and skills necessary to help patients with Parkinson's disease, even in countries where Parkinson's disease nurse specialists are not officially certified, and will help patients feel comfortable with the care they receive.

Associating Liver Enzymes and Their Interactions with Metabolic Syndrome Prevalence in a Japanese Working Population.

Background: Serum gamma-glutamyltransferase (γ-GT), alanine aminotransferase (ALT), and aspartate aminotransferase (AST) levels often increase in metabolic diseases. Objective: This study was conducted to determine which liver enzymes are strongly associated with metabolic syndrome (MetS), how they interact to produce different probability estimates, and what cutoff levels should be used to guide clinical decision-making. Methods: The researchers examined the insurance-based medical checkup data of 293,610 employees ≥35 years years of age, who underwent medical checkups between April 1, 2016, and March 31, 2017. Liver enzyme levels were grouped into quartiles. The association and interaction of liver enzymes with MetS were examined using logistic regression, and receiver operating characteristic (ROC) analyses were used to determine the optimal cutoff values for each liver enzyme in detecting the prevalence of MetS. Results: High levels of γ-GT and ALT were more strongly associated with MetS than AST. At various levels, the tested liver enzymes were found interactive, and associated with the likelihood of MetS prevalence. ROC analysis underscored the significance of all liver enzymes in predicting the development of MetS. The cutoff values for each liver enzyme were determined. Conclusion: This findings of this study directly support the identification of MetS risks within the population, prioritize prevention strategies, and potentially inform policy formulation.

Scalp EEG-recorded high-frequency oscillations can predict seizure activity in Panayiotopoulos syndrome.

OBJECTIVE: We studied the relationship between the clinical course of Panayiotopoulos syndrome (PS) and high-frequency oscillations (HFOs) captured during interictal scalp electroencephalography (EEG) to determine the feasibility of using HFOs to detect seizure activity in PS. METHODS: We analyzed the interictal scalp EEGs of 18 children with PS. Age parameters, seizure frequencies, and antiepileptic drugs were compared between the HFO-positive (HFOPG) and HFO-negative (HFONG) groups. RESULTS: Thirteen patients (72.2%) had HFOs while five patients (27.8%) had no HFOs in 194 interictal EEG records. We found no statistically significant differences in the mean age of epilepsy onset and last seizure, seizure frequency, or frequency of status epilepticus. However, the seizure activity period of the HFOPG was significantly longer than that of the HFONG. Patients with an HFO duration longer than 2 years were intractable to treatment. In most cases, seizures did not occur in the absence of HFOs, even when the spikes remained. CONCLUSIONS: HFOs are related to the seizure activity period in patients with PS. SIGNIFICANCE: We propose that HFOs are a biomarker of epileptogenicity and an indicator for drug reduction because seizures did not occur if HFOs disappeared even if the spikes remained.

Hypnotics and injuries among older adults with Parkinson's disease: a nested case-control design.

BACKGROUND: Patients with Parkinson's disease often experience sleep disorders. Hypnotics increase the risk of adverse events, such as injuries due to falls. In this study, we evaluated the association between hypnotics and injuries among older adults with Parkinson's disease. METHODS: The study used a nested case-control design. The participants were 5009 patients with Parkinson's disease aged ≥ 75 years based on claims data between April 2016 and March 2019 without prescription hypnotics 1 year before the study started. Hypnotics prescribed as oral medications included benzodiazepines, non-benzodiazepines, orexin receptor antagonists, and melatonin receptor agonists. The incidences of outcomes, including injuries, fractures, and femoral fractures, were determined. Each case had four matched controls. Conditional logistic regression analyses were performed to calculate the odds ratios and 95% confidence intervals for the number of hypnotics taken per day for each type of hypnotic. RESULTS: The proportion of participants taking at least one type of hypnotic was 18.6%, with benzodiazepines being the most common. The incidence of injuries, fractures, and femoral fractures was 66.7%, 37.8%, and 10.2%, respectively. Benzodiazepines significantly increased the risk of injuries (odds ratio: 1.12; 95% confidence interval: 1.03-1.22), and melatonin receptor agonists significantly increased the risk of femoral fractures (odds ratio: 2.84; 95% confidence interval: 1.19-6.77). CONCLUSIONS: Benzodiazepines and non-benzodiazepines, which are not recommended according to current guidelines, were the most prevalent among older adults with Parkinson's disease. Benzodiazepines significantly increased the risk of injuries, and melatonin receptor agonists significantly increased the risk of femoral fractures.

Risk heterogeneity of bullous pemphigoid among dipeptidyl peptidase-4 inhibitors: A population-based cohort study using Japanese Latter-Stage Elderly Healthcare Database.

AIMS/INTRODUCTION: Although the association between dipeptidyl peptidase-4 (DPP-4) inhibitors and bullous pemphigoid (BP) has begun to be established, some studies have suggested there are risk differences among DPP-4 inhibitors. We conducted a population-based cohort study to examine the risk differences. MATERIALS AND METHODS: Using the claims databases of the Fukuoka Prefecture Wide-Area Association of Latter-Stage Elderly Healthcare between April 1, 2013 and March 31, 2017, we conducted a retrospective cohort study to compare patients receiving one DPP-4 inhibitor with those who were prescribed another antidiabetic drug. The primary outcome was an adjusted hazard ratio (HR) of the development of bullous pemphigoid during a 3-year follow-up. The secondary outcome was the development of BP requiring systemic steroids immediately after the diagnosis. These were estimated using Cox proportional hazards regression models. RESULTS: The study comprised 33,241 patients, of which 0.26% (n = 88) developed bullous pemphigoid during follow-up. The percentages of patients with bullous pemphigoid who required immediate systemic steroid treatment was 0.11% (n = 37). We analyzed four DPP-4 inhibitors: sitagliptin, vildagliptin, alogliptin, and linagliptin. Vildagliptin and linagliptin raised the risk of BP significantly (primary outcome, vildagliptin, HR 2.411 [95% confidence interval (CI) 1.325-4.387], linagliptin, HR 2.550 [95% CI 1.266-5.136], secondary outcome, vildagliptin HR 3.616 [95% CI 1.495-8.745], linagliptin HR 3.556 [95% CI 1.262-10.024]). A statistically significant risk elevation was not observed with sitagliptin and alogliptin (primary outcome, sitagliptin, HR 0.911 [95% CI 0.508-1.635], alogliptin, HR 1.600 [95% CI 0.714-3.584], secondary outcome, sitagliptin, HR 1.192 [95% CI 0.475-2.992], alogliptin, HR 2.007 [95% CI 0.571-7.053]). CONCLUSIONS: Not all the DPP-4 inhibitors could induce bullous pemphigoid significantly. Therefore, the association warrants further investigations before generalization.

Asynchronous neural oscillations associated with subliminal affective face priming in autism spectrum disorder.

Autism spectrum disorder (ASD) is characterized by social communicative disturbance. Social communication requires rapid processing and accurate cognition regarding others' emotional expressions. Previous electrophysiological studies have attempted to elucidate the processes underlying atypical face-specific N170 responses to emotional faces in ASD. The present study explored subliminal affective priming effects (SAPEs) on the N170 response and time-frequency analysis of intertrial phase coherence (ITPC) for the N170 in ASD. Fifteen participants [seven participants with ASD and eight typically developing (TD) controls] were recruited for the experiment. Event-related potentials were recorded with a 128-channel electroencephalography device while participants performed an emotional face judgment task. The results revealed enhanced N170 amplitude for supraliminal target-face stimuli when they were preceded by subliminal fearful-face stimuli, in both the ASD and TD groups. Interestingly, TD participants exhibited higher alpha-ITPC in the subliminal fearful-face priming condition in the right face-specific area in the N170 time window. In contrast, there were no significant differences in ITPC in any frequency bands between the subliminal fearful and neutral priming conditions in the ASD group. Asynchronous phase-locking neural activities in the face-specific area may underlie impaired nonconscious face processing in ASD, despite the presence of common features of SAPEs for the N170 component in both the ASD and TD groups.

The impact of lifestyle guidance intervention on health outcomes among Japanese middle-aged population with metabolic syndrome: A regression discontinuity study.

Metabolic syndrome (MetS) prevalence has increased globally with considerable morbidity and economic burden at both individual and national levels. Japan is the first and only country that has introduced a nationwide lifestyle guidance intervention program to manage and control MetS. We conducted a quasi-experiment approach-regression discontinuity design-to evaluate the impact of this intervention on health outcomes at the population level. We retrospectively collected data of adults aged ≥35 years who participated in health checkups in 2015. Age in 2015 was used as the assignment variable, and an age of 40 years old was the threshold because those with MetS aged ≥40 were required to receive lifestyle guidance intervention. Among 26,772 MetS adults, those who received the intervention had significant reductions in obesity measurements (bodyweight, waist circumference, and body mass index [BMI]) after 1 year of this intervention. Blood pressure was also significantly reduced in men after 1 year of undertaking the intervention. The results were similar when including demographic, socioeconomic, and behavioral covariates and using alternative functional forms to estimate the impact, or when bandwidths around intervention thresholds were changed. Our results showed that lifestyle guidance intervention for MetS has an important impact on weight loss and blood pressure reduction at the population level. This intervention could address the high burden of obesity and cardiovascular diseases in Japan and other countries with an unmet need for MetS prevention and management.

Impact of Income Disparity on Utilization of Home-Based Care Services Among Older Adults in Japan: A Retrospective Cohort Study.

This study aimed to determine whether there are disparities in the utilization of home-based care services according to income level among people aged 75 years or older in Japan. The research team used administrative claims data from April 2014 to March 2018 for people aged 75 years or older in Fukuoka Prefecture. Subjects were categorized according to income level using medical insurance claim data. Associations between income level and usage days of inpatient care, outpatient care, home medical care, and usage number of home-based long-term care (LTC) services were evaluated. Furthermore, medical and LTC costs were evaluated and adjusted for gender, age, and level of LTC needs. The team used generalized linear models (GLMs) to estimate medical and LTC services utilization, as well as the potential influence of gender, age, care needs level, and death as risk factors. The study analyzed 31,322 subjects, among whom 17,288 were in low-, 12,755 were in middle-, and 1399 were in high-income groups. The results of GLMs showed the number of home medical care days was 59.45, 62.24, and 69.66 days for users from low-, middle-, and high-income groups, respectively. Correspondingly, the number of home-based LTC services used was 668.84, 709.59, and 833.14 times. This study suggests that older adults with lower incomes had relatively low utilizations of home-based care services and high utilizations of nonhome-based LTC services. Policymakers should implement policies focused on people who need care to tackle socioeconomic inequalities in home-based care.

Incidence and Clinical Characteristics of Takotsubo Syndrome in Patients with Subarachnoid Hemorrhage.

Although takotsubo syndrome (TTS) has been reported in patients with subarachnoid hemorrhage (SAH), its incidence and relation to the severity of SAH are unknown.Of 319 consecutive patients with aneurysmal SAH, 245 patients who underwent both the ECG and echocardiography were analyzed.The incidence of TTS was 6.9% (22 patients (21 women), median age 68 years (range, 60-83) ). Regional wall motion abnormalities were present as apical (64%), mid-ventricular (9%), basal (4%) and focal (23%) forms. Heart failure was found in 10 patients (45%) but there was no cardiac death. Regarding SAH severity, 10 patients (45%) with TTS were in World Federation of Neurosurgical Societies classification grade V, as compared to 40 patients (18%) without TTS (P = 0.005). Seven patients (32%) with TTS died during hospitalization, as compared to 26 patients (12%) without TTS (P = 0.018). Four patients (18%) with TTS were estimated as independent at discharge, as compared to 100 patients (45%) without TTS (P = 0.013).The incidence of TTS in patients with SAH was estimated as 6.9% with significant predominance of women. The severity of SAH was significantly greater in patients with TTS than in those without TTS.

Cost-Sharing Effects on Hospital Service Utilization Among Older People in Fukuoka Prefecture, Japan.

BACKGROUND: The cost-sharing impact on hospital service utilization of different services is a critical issue that has not been well addressed worldwide. This study aimed to investigate the cost-sharing effects based on income status on hospital service utilization of different services among elderly people in Japan and provide a comprehensive examination and discussion for the reasonability of a cost-sharing system. METHODS: The data were extracted from the Latter-Stage Elderly Healthcare Insurance database in the fiscal year 2016. A total of 610 182 insured people aged ≥75 years old, with 155 773 hospitalization patients, were identified. Hospitalization rate, length of stay (LOS), and total hospitalization cost were used to test the statistical significance among patients categorized by income levels. Generalized linear models for total hospitalization cost were constructed based on bed types to further assess different hospital service utilization. RESULTS: For medical chronic care and psychiatric beds, which both required long-term care treatment, much higher hospitalization rates were observed in the patients with low- and middle-income levels than patients with high-income level. The LOS and total hospitalization cost of the patients with low- and middle-income levels were significantly higher than the patients with high-income level treated in medical chronic care and psychiatric beds. For psychiatric beds, the total hospitalization cost for patients with low-income level was significantly higher than that for patients with highincome level. CONCLUSION: The cost-sharing policy in Japan, especially the cap for out-of-pocket needs further determination. The importance of community-based care services needs to be emphasized, and the collaboration between hospitals and community-based care facilities should be enhanced.

Cost-effectiveness analysis of treatment with varenicline for nicotine dependence compared with smoking cessation without pharmacotherapy in the real world.

PURPOSE: Smoking is an important public health issue. Although measures to support smoking cessation have been implemented worldwide, smokers often fail to quit smoking after receiving pharmacotherapies for nicotine dependence. The present study evaluated the cost-effectiveness of varenicline for smoking cessation compared with no pharmacotherapy using actual paid medical cost data in Japan. METHODS: This was a retrospective cohort study of 3657 subjects who had quit smoking with varenicline or no pharmacotherapy. We extracted health examination and medical claim data from a health insurer database for the period 2012-2015. We calculated the incremental cost-effective ratio (ICER) of varenicline using actual paid medical costs for nicotine dependence and the number needed to treat to maintain smoking cessation compared with no pharmacotherapy, considering sex, age, income, and occupation. RESULTS: The 1- and 2-year smoking cessation maintenance rates were 69.7% and 62.4%, respectively. We found that 8.8% of subjects who quit smoking used varenicline for nicotine dependence and the cost per person was Japanese Yen (JPY) 52 177 (U.S. dollars [USD] 474; USD 1 = JPY 110). The ICER of varenicline was dominant when comparing 2-year cessation with 1-year cessation. Male, age <40 years, low income, and manufacturing workers were the most cost-effective variables. CONCLUSIONS: The cost-effective variables of varenicline in the real world were investigated. The results of this study strengthen the evidence regarding which type of people should be targeted for measures to support smoking cessation using varenicline.

Health Inequality Among Older Adults with Percutaneous Coronary Intervention and Universal Health Coverage in Japan.

This study aimed to comprehensively evaluate whether income affects long-term health outcomes for older patients who underwent percutaneous coronary intervention (PCI) provided by a universal health coverage system. Data were from the Latter Stage Elderly Healthcare Insurance database in Fukuoka Prefecture, Japan. A total of 5625 individuals aged ≥65 years who underwent PCI in 2014-2016 were included. Cox proportional hazards models were used to assess the association between income status and the incidence of health outcomes. With a median follow-up of 1095 days, 554 acute myocardial infarction (AMI) cases, 1075 stroke cases, 1690 repeat revascularization cases, and 1094 deaths were observed. Risk of all-cause mortality decreased significantly with increasing income level in both unadjusted and adjusted Cox regression models. Patients in the low-income level had a significantly higher rate of AMI (log-rank P = 0.003), stroke (log-rank P = 0.039), and all-cause mortality (log-rank P = 0.001) compared with patients in the high-income level. Observed rates for repeat revascularization also were high in the first year after PCI. In the Japanese universal health setting, low-income patients had a comparatively higher mortality risk after PCI. Poor long-term outcomes might be attributed to patients' baseline characteristics rather than treatment processes.

Effects of physician visit frequency for Parkinson's disease treatment on mortality, hospitalization, and costs: a retrospective cohort study.

BACKGROUND: The number of patients with Parkinson's disease among older adults is rapidly increasing. Such patients mostly take medication and require regular physician visits. However, the effect of physician visit frequency for the treatment for Parkinson's disease has not been evaluated. This study aimed to evaluate the impact of physician visit frequency for Parkinson's disease treatment on mortality, healthcare days, and healthcare and long-term care costs among older adults. METHODS: This study employed a retrospective cohort design utilizing claims data from the Fukuoka Prefecture Wide-Area Association of Latter-Stage Elderly Healthcare Insurance and Long-Term Care Insurance. Patients aged ≥75 years who were newly diagnosed with Parkinson's disease in 2014 were included in this study, following the onset of Parkinson's disease to March 31, 2019. We calculated the restricted mean survival time to evaluate mortality, focusing on the frequency of physician visits for Parkinson's disease treatment. Inpatient days, outpatient days, and healthcare and long-term care costs per month were calculated using a generalized linear model. RESULTS: There were 2224 participants, with 46.5% mortality among those with a higher frequency of physician visits and 56.4% among those with a lower frequency of physician visits. A higher frequency of physician visits was associated with a significant increase in survival time (1.57 months at 24 months and 5.00 months at 60 months) after the onset of Parkinson's disease and a decrease in inpatient days and healthcare costs compared to a lower frequency of physician visits. CONCLUSIONS: A higher frequency of physician visits was significantly associated with longer survival time, fewer inpatient days, and lower healthcare costs. Caregivers should support patients with Parkinson's disease to visit physicians regularly for their treatment.

Effect of body mass index on vertebral and hip fractures in older people and differences according to sex: a retrospective Japanese cohort study.

OBJECTIVES: The purpose of this study was to investigate the incidence of vertebral and hip fractures in the older people and to clarify the relationship between these fractures and body mass index (BMI) along with the impact of sex differences.DesignThis was a retrospective cohort study.SettingWe used administrative claims data between April 2010 and March 2018. PARTICIPANTS: Older people aged ≥75 years who underwent health examinations in 2010 and were living in the Fukuoka Prefecture, Japan were included in the study. A total of 24 691 participants were included; the mean age was 79.4±4.3 years, 10 853 males and 13 838 females, and an the mean duration of observation was 6.9±1.6 years. PRIMARY AND SECONDARY OUTCOME MEASURES: We estimated the incidence of vertebral and hip fractures by BMI category (underweight: <18.5 kg/m2, normal weight: 18.5-24.9 kg/m2, overweight and obese: ≥25.0 kg/m2) using a Kaplan-Meier curve in males and females and determined fracture risk by sex using Cox proportional hazards regression analyses. RESULTS: The incidence of vertebral and hip fractures was 16.8% and 6.5%, respectively. The cumulative incidence of vertebral and hip fracture at the last observation (8 years) in each BMI groups (underweight/normal weight/overweight and obese) estimated using the Kaplan-Meier curve was 14.7%/10.4%/9.0% in males and 24.9%/23.0%/21.9% in females, and 6.3%/2.9%/2.4% in males and 14.1%/9.0%/8.1% in females, respectively, and both fractures were significantly higher in underweight groups regardless of sex. Multivariable Cox proportional hazards models showed that underweight was a significant risk factor only in males for vertebral fractures and in both males and females for hip fractures. CONCLUSION: Underweight was associated with fractures in the ageing population, but there was a sex difference in the effect for vertebral fractures.

Quantifying Regional and Health Care Variations to Identify Ways to Improve Hemodialysis Service Quality and Survival Outcomes.

The authors examined variations in hemodialysis care and quantified the effect of these variations on all-cause mortality. Insurance claims data from April 1, 2017 to March 30, 2018 were reviewed. In total, 2895 hospital patients were identified, among whom 398 died from various causes. Controlling effects of the facility and secondary medical care areas, all-cause mortality was associated with older age, heart failure, malignancy, cerebral stroke, severe comorbidity, and the first and ninth centile of physician density. Multilevel analyses indicated a significant variation at facility level (σ22 0.27, 95% confidence interval: 0.09-0.49). Inclusion of all covariates in the final model significantly reduced facility-level variance. Physician density emerged as an important factor affecting survival outcome; thus, a review of workforce and resource allocation policies is needed. Better clinical management and standardized work processes are necessary to attenuate differences in hospital practice patterns.

Elucidating variations in outcomes among older end-stage renal disease patients on hemodialysis in Fukuoka Prefecture, Japan.

Variations in health care outcomes and services potentially indicate resource allocation inefficiency. Therefore, this study was conducted to examine variations in mortality and hospitalization cases among end-stage renal disease (ESRD) patients receiving hemodialysis (HD) care from medical facilities located in 13 secondary medical care areas (SMAs) of Fukuoka prefecture, Japan. The research was designed as a retrospective, cross-sectional study using insurance claims data. The subjects of the study were older patients (over 65 years old) insured by the Fukuoka prefecture's Latter-Stage Elderly Healthcare Insurance. Using an electronic claims database, we identified patients with chronic kidney disease (CKD) who had received HD care from April 1, 2017 to March 31, 2018. The CKD status was identified using International Classification of Disease, 10th revision code, and HD maintenance status was ascertained using specific insurance procedure codes. A total of 5,243 patients met our inclusion criteria and their records were subsequently reviewed. About 73% (n = 3,809) of patients had admission records during the period studied. Thus, the data regarding hospital length of stay (LOS) and admission costs were analyzed separately. Significant differences in terms of increased risks in hospitalization were evident in a number of SMAs. An increase in mortality risk due to heart failure and malignancy was observed in two separate SMAs. Also, analyzed LOS, total hospitalization cost, and cost per day according to SMAs showed statistically significant variations. The findings highlight the magnitude of the burden of CKD and ESRD in the community. The high prevalence of ESRD, associated mortality, and hospitalized HD patients signal the need for clinicians to assume broader roles in measures against chronic kidney disease through involvement in community awareness programs. To improve patient outcomes, improvement of regional health care provision, the level of medical care, and the development of existing human resources are needed.

Variation in the use of percutaneous coronary interventions among older patients with acute coronary syndromes: a multilevel study in Fukuoka, Japan.

BACKGROUND: Variation in health care delivery among regions and hospitals has been observed worldwide and reported to have resulted in health inequalities. Regional variation of percutaneous coronary intervention (PCI) was previously reported in Japan. This study aimed to assess the small-area and hospital-level variations and to examine the influence of patient and hospital characteristics on the use of PCI. METHODS: Data provided by the Fukuoka Prefecture Latter-stage Elderly Insurance Association was used. There were 11,821 patients aged ≥65 years with acute coronary syndromes who were identified from 2015 to 2017. Three-level multilevel logistic regression analyses were performed to quantify the small-area and hospital variations, as well as, to identify the determinants of PCI use. RESULTS: The results showed significant variation (δ2 = 0.744) and increased PCI use (MOR = 2.425) at the hospital level. After controlling patient- and hospital-level characteristics, a large proportional change in cluster variance was found at the hospital level (PCV 14.7%). Fixed-effect estimation results showed that females, patients aged ≥80 years old, hypertension and dyslipidemia had significant association with the use of PCI. Hospitals with high physician density had a significantly positive relationship with PCI use. CONCLUSIONS: Patients receiving care in hospitals located in small areas have equitable access to PCI. Hospital-level variation might be originated from the oversupply of physicians. A balanced number of physicians and beds should be taken into consideration during healthcare allocation. A treatment process guideline on PCI targeting older patients is also needed to ensure a more equitable access for healthcare resources.

Coffin-Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B.

Coffin-Siris syndrome (CSS) is a congenital anomaly syndrome characterized by developmental delay, coarse facial features, and hypoplasia of the fifth digit's nail or phalanges. Herein, we report a case of the 8-year-old female patient who showed developmental delay associated with dysplasia in the macular and large toe area. Comprehensive genomic analysis showed no possible candidate variants, but the subsequent genomic copy number analysis revealed a novel exonic deletion in the coding region of AT-rich interactive domain-containing protein 1B (ARID1B), a gene responsible for CSS. Genomic copy number analysis can aid in diagnosing CSS by confirming undiagnosed exonic deletions in ARID1B. Furthermore, this is the first report of CSS associated with bilateral macular dysplasia.