Artificial intelligence (AI) has shown transformative potential in various medical fields, including diagnostic imaging. Recent advances in AI-driven technologies have opened new avenues for improving echocardiographic practices. AI algorithms enhance the image quality, automate measurements, and assist in the diagnosis of cardiovascular diseases. These technologies reduce manual errors, increase consistency, and match the diagnostic performances of experienced echocardiographers. AI in tele-echocardiography offers significant benefits, particularly in rural and remote regions in Japan, where healthcare provider shortages and geographic isolation hinder access to advanced medical care. AI enhances accessibility, provides real-time remote analyses, supports continuous monitoring, and improves the quality and efficiency of remotely delivered cardiac care. However, addressing challenges related to data security, transparency, integration into clinical workflows, and ethical considerations is essential for the successful implementation of AI in echocardiography. On overcoming these challenges, AI will be able to revolutionize echocardiography and ensure timely and effective cardiac care for all patients in the future.
Objective Metabolic-associated fatty liver disease (MAFLD) has only recently been proposed; therefore, the characteristics of patients with autoimmune hepatitis (AIH) and MAFLD remain unclear. This study evaluated the effect of MAFLD on AIH patients with AIH.
Methods We reevaluated the Japanese Nationwide Survey of AIH in 2018, which involved a survey of patients diagnosed with AIH between 2014 and 2017. We categorized patients with AIH according to the presence or absence of MAFLD and compared the clinical characteristics between the two groups.
Results A total of 427 patients (77 men and 350 women) were included in this study. The overall prevalence of MAFLD was 10.5%. Compared to AIH patients without MAFLD, AIH patients with MAFLD had the following characteristics at the time of the AIH diagnosis: (1) a higher body mass index, (2) a higher prevalence of hypertension, (3) mild elevation of hepatobiliary enzymes and total bilirubin, and (4) histologically progressive fibrosis. However, the levels of hepatobiliary enzymes and total bilirubin after treatment were significantly higher in AIH patients with MAFLD than in those without MAFLD.
Conclusion AIH patients with MAFLD had characteristics different from those of AIH patients without MAFLD. These findings could help increase our understanding of patients with AIH with MAFLD.
Objective The characteristics of gastric cancer in patients with atrophic mucosa and no apparent history of Helicobacter pylori eradication have not been thoroughly investigated. Therefore, this study examined the clinicopathological characteristics of gastric cancer in these patients.
Methods We retrospectively examined the endoscopic and pathological characteristics of gastric cancer in patients who underwent endoscopic submucosal dissection.
Patients We divided the patients into 2 groups: those with gastric atrophy and no history of eradication (group A; n=102) and those with a history of eradication (group B; n=161). In group A, patients were further divided into mild atrophy (group C) and severe atrophy (group D) groups, while group B was further divided into those who underwent eradication treatment >5 years ago (group E) and those who underwent eradication 1-5 years ago (group F).
Results Group A comprised significantly older individuals (75±8.0 vs. 71±7.5 years old, p<0.001) with a higher frequency of elevated gastric cancer than group B (32.4% vs. 17.4%, p=0.006). Compared with group E, group A was older and had a greater incidence of elevated gastric cancer. The incidence of gastric cancer in the U or M region was lower in group C than in group D.
Conclusion Gastric cancer in patients with gastric atrophy and no history of eradication was associated with an older age and higher frequency of elevated-type morphology than in those with a history of eradication.
Objective The efficacy of anamorelin in pancreatic cancer (PC) patients with a poor performance status (PS) is uncertain, as previous trials have excluded such patients. This study evaluated the efficacy of anamorelin in PC patients with a poor PS (2) compared with those with a good PS (0-1).
Methods We retrospectively reviewed consecutive PC patients with cachexia who received anamorelin at our institution. The primary outcome was the proportion of responders, defined as those who maintained or gained body weight and appetite over 12 weeks. The secondary outcomes included anamorelin treatment duration, proportion of patients who discontinued anamorelin within 4 weeks (early discontinuation), and the overall survival.
Results Forty-five patients (35/10) were included in this study. The proportion of responders was significantly lower in patients with a poor PS than in those with a good PS (0% vs. 37%, p=0.042). Moderate weight loss (5-10%) and administration of pancreatic enzyme replacement therapy were associated with a response to anamorelin. A poor PS was significantly associated with a shorter treatment duration of anamorelin (14 vs. 93 days, p<0.001), a higher proportion of patients who discontinued anamorelin within 4 weeks (70% vs. 17%, p=0.003), and a reduced survival (62 vs. 188 days, p<0.001). A poor PS was associated with early discontinuation of anamorelin.
Conclusion The efficacy of anamorelin is extremely limited in PC patients with a poor PS. Patients with PC with a poor PS may not be good candidates for anamorelin compared to those with a good PS.
Objective This study aimed to investigate the antihypertensive goal achievement rate for office blood pressure (OBP) and the rate of clinical inertia (inertia) as factors for non-achievement in hypertensive patients in 2020. After documenting these results in the medical records, we observed changes in the achievement rate of the OBP goals in 2020 and 2022.
Methods In Study 1, the participants were 517 outpatients (mean age 68.6±13.2 years, 54% women) who visited the Division of Hypertension regularly between March and September 2020. We investigated the achievement rate of OBP goals during that period and confirmed the prevalence of inertia as a possible factor for failure to achieve OBP goals. In Study 2, the participants were 308 who visited the division, and who had at least one condition for which an OBP of <130/80 should be targeted in both 2020 and 2022 (mean age 66.6±12.4 years, 50% of women in 2020). We investigated the trends in the achievement of OBP for the same period in both years.
Results The rate of achievement of the OBP goals in 2020 was 48%. Inertia accounted for 14% of the non-achievement factors. The OBP significantly decreased in 2022 in comparison to 2020. The achievement rate of OBP goals showed an increasing trend from 45% in 2020 to 52% in 2022.
Conclusion Attending physicians' awareness of unmet antihypertensive goals can help them overcome inertia and improve blood pressure control in patients.
Objective Thymus and activation-regulated chemokine (TARC) can predict severe disease in patients with coronavirus disease 2019 (COVID-19). However, no reports have addressed the predictive value of TARC with the widespread use of vaccines and medications for COVID-19 during the Omicron variant period of the pandemic.
Methods This single-center prospective cohort study enrolled COVID-19 patients admitted to our institution between December 1, 2021, and August 15, 2022. Patients with respiratory failure due to diseases other than COVID-19 were also excluded. We measured the serum TARC levels of patients at admission.
Results We enrolled 157 patients, with 89 in the severe group and 68 in the non-severe group. The severe group was more likely than the non-severe group to include older patients, those with no or one dose of vaccine, and those with interstitial lung disease. The cutoff level of TARC derived from a receiver operator characteristic curve analysis to predict severe disease was 174.0 pg/mL. The sensitivity, specificity, positive predictive value, and negative predictive value were 72.1%, 69.7%, 64.5%, and 76.5%, respectively. The area under the curve was 0.722 (95% confidence interval: 0.635-0.809). A multivariate analysis showed that 2 vaccination doses were associated with non-severe disease, and TARC ≤174 pg/mL was associated with severe disease.
Conclusion TARC was a predictive factor for severe disease, but its cutoff value was higher and its predictive accuracy lower than those in previous reports. We surmised that during the Omicron variant period of the pandemic, the widespread use of vaccines and medications for COVID-19 decreased the predictive accuracy of TARC.
A 19-year-old Japanese man was referred for a further evaluation of liver dysfunction. Despite the absence of symptoms or obesity, the liver biopsy results were consistent with non-alcoholic steatohepatitis. Subsequent investigations revealed low serum ceruloplasmin, increased urinary copper excretion, and a known mutation c.3809A>G (p.Asn1270Ser) in the copper-transporting enzyme P-type ATPase (ATP7B) gene, leading to a diagnosis of Wilson's disease. A previously unreported variant, i.e., c.3866A>T (p.Asp1289Val) was detected on the patient's other allele and was considered a novel mutation, classified as 'likely pathogenic' according to the American College of Medical Genetics guidelines.
We herein report two extremely rare cases of gastric adenocarcinoma with enteroblastic differentiation (GAED) that underscore the aggressive nature of GAED.
Case 1: endoscopic submucosal dissection (ESD) was scheduled for early-stage gastric cancer, however, the tumor increased in size drastically and the morphology changed to type "0-I + IIc" in one month. Surgery was performed and the patient was diagnosed with GAED.
Case 2: ESD was performed for early-stage gastric cancer, and the pathological findings revealed GAED. The horizontal margin was positive for clear cells in the muscularis mucosa. Additional surgery was performed; however, recurrence occurred one year later.
Therefore, the treatment strategies should be carefully considered for GAED.
This case report describes a patient who received hormone replacement therapy for secondary panhypopituitarism and subsequently developed diabetes. His physician decided to discontinue growth hormone (GH) replacement, which was previously deemed contraindicated. Following the diagnosis of fatty liver, the patient began to exhibit liver damage that progressed over the ensuing years, ultimately leading to cirrhosis. Common factors linked to cirrhosis were excluded, leading to the belief that GH deficiency over several years was the primary contributor to cirrhosis. Therefore, when treating patients with GH insufficiency and diabetes, clinicians should carefully consider the potential implications of GH replacement therapy.
Cryoballoon ablation has been established as an effective method for pulmonary vein isolation and has recently been investigated for its efficacy of substrate modification on the left atrial roof area in patients with persistent atrial fibrillation. We herein report the first successful case of left atrial posterior wall isolation including roof line ablation using cryoballoons in a patient with persistent atrial fibrillation, dextrocardia, and situs inversus. Cryoballoon ablation proved to be a safe and straightforward approach to create lasting lesions along the left atrial roof line and left atrial posterior wall, even under challenging anatomical conditions.
A 53-year-old man with chronic dyspnea and bilateral pleural effusion was subsequently diagnosed with idiopathic chylothorax. Lymphatic scintigraphy confirmed lymphatic fluid leakage at the left venous angle, prompting management with lymphaticovenular anastomosis (LVA). Although the left pleural effusion was controlled, the right pleural effusion continued to increase, resulting in bilateral leg lymphedema that was refractory to LVA. Approximately three years and three months after the presentation, the patient succumbed to CO2 narcosis and renal failure. It is crucial to study additional cases in order to uncover new causes and develop pathology-based treatments for this condition.
Herein, we report a case of 72-year-old man who had L858R EGFR-mutated lung adenocarcinoma. Chest computed tomography revealed a large lung mass that had completely replaced the right upper lobe. Although the mass dramatically shrank after initiating chemotherapy, non-malignant pleural effusion appeared. Because diffuse pleural thickening and shrinking of the thoracic cage gradually became apparent, the patient was diagnosed with trapped lung. Despite the stabilization of his lung cancer, he experienced severe dyspnea and significant weight loss, ultimately leading to a decreased performance status. Chest physicians should recognize that trapped lung can develop as a sequela of dramatic tumor shrinkage in lung cancer.
We herein report a 47-year-old man who presented with progressive paraparesis. Imaging revealed a right upper pulmonary nodule, massive bilateral adrenal metastases, thoracolumbar vertebral osteolysis, and subcutaneous nodules. A biopsy of the right buttock nodule revealed a poorly differentiated metastatic carcinoma with high programmed cell death-ligand 1 expression and extensive chromosomal rearrangements. The patient died 10 days after the initiation of pembrolizumab treatment. Autopsy findings confirmed pulmonary pleomorphic carcinoma with extensive metastases. Quantification of chromosomal rearrangements revealed a jump-up mutation from the normal karyotype, followed by a further incremental increase in the degree of deviation.
We report the case of a 42-year-old man with bronchiectasis who had a history of infertility treatment for obstructive azoospermia. Young's syndrome was suspected based on the triad of obstructive azoospermia, sinusitis, and bronchiectasis. He had normal electron microscopy findings, normal nasal nitric oxide levels (116 nL/min), and no situs inversus. However, we found compound heterozygous variants considered pathogenic in CFAP221. This led to a diagnosis of primary ciliary dyskinesia (PCD). Distinguishing PCD from Young's syndrome in patients with the triad of obstructive azoospermia, sinusitis, and bronchiectasis is challenging. Young's syndrome may be a phenotype of PCD.
A cholecystocutaneous fistula is a type of external biliary fistula that occurs when there is an abnormal connection between the gallbladder and skin. We report the first case of a cholecystocutaneous fistula that occurred in association with the development of lymphoma in the gallbladder. A 76-year-old woman who was under observation for follicular lymphoma with a low tumor burden presented with fatigue and abdominal pain. Imaging studies revealed cholecystitis associated with an abdominal subcutaneous abscess, and lymphoma transformation was confirmed by a lymph node biopsy. Edwardsiella tarda was cultured from both the abdominal subcutaneous abscess and percutaneous transhepatic gallbladder drainage, demonstrating cholecystocutaneous fistula, and open cholecystectomy revealed lymphoma cell infiltration into the gallbladder. Our case showed unique complications, and its successful management was associated with aggressive lymphoma development.
CD19 chimeric antigen receptor (CAR) T-cell therapy is associated with potentially life-threatening immunological toxicities. We herein report an 81-year-old woman who experienced multiple perforations in the small intestine 8 days after tisagenlecleucel infusion for relapsed and refractory follicular lymphoma with no gastrointestinal involvement. A pathological examination of the resected small intestine revealed multiple ulcers that formed after resection but without lymphoma involvement. Based on these findings, tocilizumab used for cytokine release syndrome was considered to be associated with these lesions. This case illustrates a previously undescribed but serious sequela of CAR T-cell therapy, calling for relevant personnel to be vigilant about gastrointestinal symptoms.
Epstein-Barr virus (EBV)-associated post-transplant lymphoproliferative disease (PTLD) is predominantly of B cell origin. The concept of clonal evolution from poly- to monoclonal lymphoproliferation has been put forward, but T-cell PTLDs are rare with an unknown etiology. In a unique autopsy case of a 53-year-old man with EBV-associated T-cell PTLD, we observed polymorphic T-cell proliferation across several organs and monomorphic T-cell proliferation in the perforated ileum. Interestingly, both manifestations exhibited identical monoclonal peaks in the T-cell receptor rearrangement polymerase chain reaction (PCR) analyses. These findings suggest the existence of clonal evolution in EBV-associated T-cell PTLD, leading to the proposal of the novel concept of polymorphic T-cell PTLD.
A 64-year-old woman presented with agranulocytosis, anemia, and bacteremia, leading to a diagnosis of T-cell large granular lymphocytic leukemia (T-LGLL). A molecular analysis identified a signal transducer and activator of transcription 3 (STAT3) Y640F variant. Initial treatment with cyclophosphamide and prednisolone did not improve her condition, but serious infections were observed. The patient underwent cord blood transplantation (CBT) after preconditioning with fludarabine, busulfan, and total body irradiation, yielding a STAT3 Y640F variant disappearance, based on allele-specific quantitative polymerase chain reaction (AS-qPCR). In this case, CBT is a promising refractory T-LGLL treatment option, and the STAT3 Y640F variant AS-qPCR is a T-LGLL activity marker.
A 45-year-old man was diagnosed with CML in the chronic phase and therefore was sequentially treated with imatinib, dasatinib, nilotinib, and ponatinib. Neither ABL1 point mutations nor any additional chromosomal abnormalities were detected. The patient's best response was a partial cytogenetic response to nilotinib treatment. The deletion of amino acid residues 184-274 and a 35 bp insertion after nucleotide 1423 of ABL1 were detected before ponatinib administration. Two years after ponatinib administration, the patient died of a traumatic brain hemorrhage 15 years after the CML diagnosis. He did not progress to blast crisis, possibly because of the emergence of a loss-of-function ABL1 splicing variant.
Rosai-Dorfman disease (RDD) is a rare form of non-Langerhans cell histiocytosis. Although 20% of patients with RDD have spontaneous remission, some cases with central nervous system (CNS) involvement require surgery or systemic treatment. We encountered a case of RDD in which hypertrophic pachymeningitis was diffuse, eliminating the need for surgical intervention. A 72-year-old Japanese man was diagnosed with RDD based on pathological lymph node findings. Repeated intravenous methylprednisolone (IVMP) administration resolved and stabilized the hypertrophic pachymeningitis without any sequelae. If surgery or anticancer medications are contraindicated, repeated IVMP may be a good therapeutic option for CNS-associated RDD.
Lemierre's syndrome can be fatal if diagnosed late or not treated appropriately. We herein report a 40-year-old woman with a fever and pain with tenderness in her palms after the administration of antibiotics for pharyngotonsillitis. She was diagnosed with Lemierre's syndrome, and her symptoms improved after the administration of intravenous ampicillin-sulbactam. In this case, the palmar lesions indicated septic emboli and were an important finding in recognizing Lemierre's syndrome. Lemierre's syndrome should be considered in the differential diagnosis of patients with a persistent fever following oropharyngeal infection, even if they have received antimicrobial therapy, resolved pharyngeal symptoms, and negative culture results.
We herein report an autopsy case of streptococcal toxic shock syndrome (STSS) with disseminated intravascular coagulation and multiple cerebral infarctions induced by Streptococcus dysgalactiae subsp. equisimilis in an 84-year-old male. Pathological examination revealed sepsis with hemophagocytosis in the reticular system and intravascular bacteria in multiple organs, originating from bacterial necrotizing fasciitis of the lower extremities. The brain MRI findings showed a diffusion weighted imaging-fluid-attenuated inversion-recovery mismatch, whereas the pathology was almost normal, thus supporting a hyperacute phase of cerebral infarction. The findings in this case help to elucidate the pathogenesis of STSS and develop appropriate treatment strategies.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder characterized by intractable epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations (AVMs) in multiple organs, including the lungs, liver, gastrointestinal tract, brain, and spinal cord. We herein report a 50-year-old Japanese man with HHT who experienced recurrent epistaxis, telangiectasia in the cornea, apex of the tongue and fingers; hepatic AVM; and a poorly developed main arterial trunk in the right middle cerebral artery. A genetic analysis revealed a novel heterozygous mutation in the activin A receptor-like type 1 gene, with a frameshift mutation in NM_000020.3:c.826_836del (p.Ile276ProfsTer112).