Background: Aortic wall enhancement (AWE), evaluated with computed tomography angiography in Type B aortic dissection, is associated with aortic remodeling. This study aimed to evaluate the relationship between AWE and pathological findings of the aortic wall using an aortic wall sample from a Type A aortic dissection (TAD).
Methods: We examined patients with TAD treated between January 2012 and February 2023.
Background: MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying genomic rearrangement structures, including duplications and triplications, and a wide range of duplication sizes, no clear correlation exists between DNA rearrangement and clinical features. We had previously demonstrated that up to 38% of MRXSL families are characterized by complex genomic rearrangements (CGRs) of intermediate complexity (2 ≤ copy number variant breakpoints < 5), yet the impact of these genomic structures on regulation of gene expression and phenotypic manifestations have not been investigated.
View Article and Find Full Text PDFBackground: Previous studies have reported the impact of a diagnosed disease or self-perceived poor overall health on job loss. However, evidence is lacking on which self-reported symptoms or activity limitations are related to job loss, especially during the coronavirus disease 2019 (COVID-19) pandemic.
Aims: We investigated whether self-reported symptoms or activity limitations were correlated with the occurrence of job loss within 1 year during the COVID-19 pandemic.
Seizures in patients with developmental and epileptic encephalopathies (DEEs) are often highly resistant to various antiseizure medications. Perampanel (PER) is a novel antiseizure medication that non-competitively inhibits the α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor and is expected to reduce seizure frequency not only for focal seizures and generalized tonic-clonic seizures (GTCS) but also for other seizure types. This study aimed to clarify the long-term therapeutic efficacy and tolerability of PER in patients with DEEs.
View Article and Find Full Text PDFIntroduction: The frequency of neuroendocrine carcinoma of the prostate is low, accounting for approximately 1%-5% of all prostate cancers. Herein, we report the case of a patient who was diagnosed with prostate neuroendocrine carcinoma and successfully treated with etoposide and cisplatin.
Case Presentation: A 74-year-old man presented to the urology department with the chief complaint of urinary retention.
Angiosarcoma of the bone is very rare, accounting for less than 1% of all malignant bone tumors. We report our experience with an epithelioid hemangiosarcoma arising in the proximal tibia and a review of the literature. The patient, an 85-year-old male, was referred to our institution because of left knee pain that had persisted for five months, and bone radiolucency was observed in the proximal tibia.
View Article and Find Full Text PDFBeta-propeller protein-associated neurodegeneration (BPAN) encompasses a group of refractory neurodegenerative diseases that are caused by excessive iron deposition in the brain, especially in the basal ganglia. We reported a case of BPAN with a novel variant of the WDR45 gene at Xp11.23.
View Article and Find Full Text PDFThis study aimed to clarify the relationship between presenteeism and the level of satisfaction with the work environment in the anime industry. Data from the Animation Producers Survey 2023 were analyzed. A total of 366 laborers were included in this study.
View Article and Find Full Text PDFThe neural oscillator model proposed by Matsuoka is a piecewise affine system that exhibits distinctive periodic solutions. Although such typical oscillation patterns have been widely studied, little is understood about the dynamics of convergence to certain fixed points and bifurcations between the periodic orbits and fixed points in this model. We performed fixed point analysis on a two-neuron version of the Matsuoka oscillator model, the result of which explains the mechanism of oscillation and the discontinuity-induced bifurcations such as subcritical/supercritical Hopf-like, homoclinic-like and grazing bifurcations.
View Article and Find Full Text PDFRadial nerve palsy (RNP) is classified as traumatic, non-traumatic, or iatrogenic. The most frequent etiologic agent is the fracture of the humerus of the shaftand distal. We experienced a case of RNP caused by desmoid-type fibromatosis around the radial nerve.
View Article and Find Full Text PDFHip fracture is a common injury in older adults; however, the optimal timing of surgical treatment remains undetermined in Japan. Therefore, this retrospective study aimed to ascertain the rate of early surgery among hip fracture patients and investigate its effectiveness, along with "regional clinical pathways" (patient plan of care devised by Japanese clinicians), in reducing the length of hospital stay (LOS) postoperatively. We hypothesized that performing early surgery along with a regional clinical pathway is effective to reduce the postoperative LOS and complications among hip fracture patients.
View Article and Find Full Text PDFThe benefits of physical rehabilitation for very-low-birth-weight infants (VLBWI) have been reported in previous studies; however, the implementation rate of physical rehabilitation in this population remains to be clarified. This study aimed to examine the implementation rate of physical rehabilitation among VLBWI admitted to the neonatal intensive care unit (NICU) using real-world data. This observational study obtained data from a nationwide administrative database associated with the diagnostic procedure combination (DPC) system in Japan (2014-2019).
View Article and Find Full Text PDFIntroduction: Anterior congenital radial head dislocation (CRHD) is a rare abnormality that is less commonly seen in the adult population. Most of the time, adult-onset symptoms are due to the prolonged dislocation of the radiocapitellar joint that has been present since birth. One of the possible complications of having a prolonged radial head dislocation is the presence of neuropathies such as posterior interosseous nerve (PIN) palsy.
View Article and Find Full Text PDFStudy Design: A retrospective cohort study using the Kaplan-Meier method with propensity-score matching.
Purpose: To evaluate whether the presence of prevalent morphometric vertebral fractures (VFs) poses a risk for subsequent clinical VFs after short-fusion surgery in women aged ≥60 years with degenerative spondylolisthesis.
Overview Of Literature: VFs are common osteoporotic fractures and are associated with a low quality of life.
SAGE Open Med Case Rep
June 2024
Midventricular obstruction (MVO) is a rare form of hypertrophic cardiomyopathy (HCM). While surgical treatment for HCM is among the most technically challenging cardiac operations for acquired disease, surgery for MVO is rarely reported. A 38-year-old man was admitted to our hospital with a cough and dyspnea.
View Article and Find Full Text PDFThe detection of copy number variations (CNVs) and somatic mutations in cancer is important for the selection of specific drugs for patients with cancer. In cancers with sporadic tumor cells, low tumor content prevents the accurate detection of somatic alterations using targeted sequencing. To efficiently identify CNVs, we performed tumor cell enrichment using tissue suspensions of formalin-fixed paraffin-embedded (FFPE) tissue sections with low tumor cell content.
View Article and Find Full Text PDFLongitudinally extensive myelitis with 15 or more vertebrae in length is extremely rare, with limited evidence regarding clinical features and therapeutic response. We report a case of a 29-year-old male patient with extremely longitudinally extensive myelitis ultimately diagnosed as myelin oligodendrocyte glycoprotein-associated disease (MOGAD). The patient presented with an acute onset of meningismus, limb weakness, sensory disturbance below the C5 level, ataxia, and urinary retention.
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