The grading diagnostic strategy of molecular autopsy combined with pathological autopsy in the forensic diagnosis of cardiomyopathy.

The diagnosis of cardiomyopathy often relies on the subjective judgment of pathologists due to the variety of morphologic changes in the condition and its low specificity. This uncertainty can contribute to unexplained sudden cardiac deaths (USCD). To enhance the accuracy of hereditary cardiomyopathy diagnosis in forensic medicine, we proposed a combination of molecular autopsy and pathologic autopsy. By analyzing 16 deceased patients suspected of cardiomyopathy, using whole exome sequencing (WES) in molecular autopsy, and applying a combined diagnostic strategy, the study found pathogenic or likely pathogenic variants in 6 cases. Out of the 16 cases, cardiomyopathy was confirmed in 3, while 3 exhibited conditions consistent with it. Data for 4 cases was inconclusive, and cardiomyopathy was ruled out in 6. Notably, a novel variant of the TTN gene was identified. This research suggests that a grading diagnostic strategy, combining molecular and pathological evidence, can improve the accuracy of forensic cardiomyopathy diagnosis. This approach provides a practical model and strategy for precise forensic cause-of-death determination, addressing the limitations of relying solely on morphologic assessments in cardiomyopathy cases, and integrating genetic information for a more comprehensive diagnosis.

A Rare Case of Leukemoid Reaction During Mechanical Circulatory Support in a Patient With Severe Heart Failure: An Autopsy Study.

The leukemoid reaction (LR) is reported to be caused by severe stress conditions such as infection, malignancies, intoxication, severe hemorrhage, or acute hemolysis; this condition is attributed to a very severe prognosis. Some reports have suggested that the LR was associated with a systemic stress response. A 36-year-old man who required mechanical circulatory support (MCS), including veno-arterial extracorporeal membrane oxygenation and Impella 5.5 due to severe heart failure, was transferred to our hospital. He showed a markedly elevated WBC count and died of multiple organ failure. The autopsy revealed the possibility that leukocytosis might have been due to an LR; however, the cause of the cardiac failure was unknown. To the best of our knowledge, this study is the first to report a rare case of LR in a patient with severe heart failure requiring MCS.

Coexistence of Diffuse Large B-Cell Lymphoma With Chronic Tubulointerstitial Nephritis: A Case Review and Pathophysiology.

There is an association between lymphomas and kidney disease with renal abnormalities found both in patients with direct infiltration by lymphoma as well as in patients without gross or microscopic evidence of renal involvement. Multiple mechanisms to explain the link between lymphomas and renal disease have been proposed, ranging from direct renal metastasis by the lymphoma to chemokine signaling pathways. In addition, there is a correlation between certain genetic mutations and an increased risk of lymphoma metastasizing to other organs. We present a case of a 41-year-old male who passed away due to end-stage kidney disease and was found on autopsy to have chronic tubulointerstitial nephritis and diffuse large B-cell lymphoma (DLBCL) without direct renal involvement by the lymphoma. The patient had been previously healthy with no significant prior medical history, NSAID, or other contributory medication use of note with the only presenting symptom being renal failure. Only upon autopsy was DLBCL discovered throughout the abdomen with no direct lymphoma involvement evident in the kidneys. To the author's knowledge, this is one of the few reported cases of DLBCL in English literature without renal infiltration in which the presenting symptom and cause of death was renal dysfunction. Several mechanisms have been theorized for how lymphomas can lead to kidney damage without direct metastasizes; however, more research still needs to be done to better understand the underlying etiology. Given the rarity and the lack of direct infiltration of lymphoma into the kidneys in this patient, we hope reporting this case will allow further advancements in this field of study as well as more comprehensive management.

Characteristics of Malpractice Litigation Involving Pathological Autopsies Themselves in Japan: A Database Analysis.

Introduction: Following recently increased public awareness, the number of medical malpractice litigation cases in Japan has increased in all fields of health care. A pathological autopsy is important for medical practice but has not yet been subject to much litigation. Methods: This study presents a review of all civil lawsuits involving pathological autopsies identified in a Japanese database of lawsuits (Westlaw.com). The basic characteristics of cases, the main issues in each case, results, and reasons for the results given by the court were examined. Results: Over 500 cases were examined, among which four autopsy-related negligence lawsuits were retained for analysis. Judgments in these cases were delivered between February 2000 and February 2017. Two judgments were regarding the same case, which was discussed in two different civil procedures (monetary damages and request to return the specimens of patients to relatives). This included three factual cases, which were all civil. Each case was brought by close relatives, and all defendants were hospitals. The main issues were informed consent and the accuracy of autopsy results in two and one cases, respectively. The issues related to informed consent were the need for informed consent to take a specimen and the scope of informed consent. Conclusions: This study describes the basic characteristics of malpractice lawsuits related to autopsies. Lawsuits related to pathological autopsies seem to be relatively rare in Japan.

Brain and spinal cord metastases with seminoma: A case report.

Introduction: Brain and spinal cord metastases from testicular cancer occur rarely, and metastases with seminoma are extremely rare. Case presentation: A 42-year-old man who was diagnosed with seminoma and multiple metastases underwent first-line and salvage chemotherapy. Brain metastases were noted; consequently, surgery, third-line chemotherapy, and whole-brain irradiation were performed. Subsequently, paralysis developed, and spinal cord metastases were detected. He received fourth-line chemotherapy but died. Pathological autopsy revealed metastases only in the spinal cord. The cause of death was considered respiratory failure due to cervical spinal cord involvement from spinal metastases. Conclusion: Brain and spinal cord metastases from seminoma are rare. Thus, similar future cases should be treated appropriately.

Histopathological Features of Gerhardt Syndrome in a Patient With Multiple System Atrophy: An Autopsy Case Report.

Multiple system atrophy (MSA) is a progressive neurodegenerative disease characterized by autonomic failure, parkinsonism, and cerebellar ataxia. Gerhardt syndrome, which is inspiratory dyspnea with laryngeal stridor associated with dysfunction of the vocal folds, is a frequent and fatal complication of MSA. A 59-year-old man with a six-year history of MSA presented with ataxia and dysarthria. He also had dyspnea and stridor, which had worsened in the last three months, and died from respiratory distress. Autopsy revealed neurogenic group atrophy of the posterior cricoarytenoid (PCA) muscle, which suggested that laryngeal nerve damage caused abductor vocal fold paralysis in addition to cerebellar and brainstem atrophy with glial cytoplasmic inclusions. Our histopathological findings suggest that Gerhardt syndrome may be associated with neurogenic atrophy of the laryngeal abductor muscle (PCA muscle) of the vocal folds.

Cancer of Unknown Primary With Presumptive Pancreatic Cancer Treated With FOLFIRINOX.

A 52-year-old man was found to have an increase in carbohydrate antigen (CA)19-9. He underwent endoscopic ultrasound/fine needle aspiration (EUS-FNA) of the soft tissue shadow near the pancreas and was diagnosed with adenocarcinoma. The cancer was judged to be of unknown primary. Cancers of unknown primary make up 3-5% of malignant tumors, and it is difficult to determine the treatment policy. FOLFIRINOX's efficacy in cancer of unknown primary is unclear. In this case, he received chemotherapy with FOLFIRINOX. After five cycles of treatment, the best effect was stable disease (SD). However, he died about 6 months after the onset of symptoms. Pathological anatomy after death revealed that the primary lesion was in the pancreas. FOLFIRINOX may be effective for cancers of unknown primary. Pathological anatomy is important to confirm the validity of treatment. It is important to consider giving chemotherapy if there is a presumed primary tumor even if the cancer is of unknown primary.

The pathological autopsy of coronavirus disease 2019 (COVID-2019) in China: a review.

The coronavirus disease 2019 (COVID-2019) that emerged in Wuhan, China, has rapidly spread to many countries across all six WHO regions. However, its pathobiology remains incompletely understood and many efforts are underway to study it worldwide. To clarify its pathogenesis to some extent, it will inevitably require lots of COVID-2019-associated pathological autopsies. Pathologists from all over the world have raised concerns with pathological autopsy relating to COVID-2019. The issue of whether a person died from COVID-2019 infection or not is always an ambiguous problem in some cases, and ongoing epidemiology from China may shed light on it. This review retrospectively summarizes the research status of pathological autopsy for COVID-2019 deaths in China, which will be important for the cause of death, prevention, control and clinical strategies of COVID-2019. Moreover, it points out several challenges at autopsy. We believe pathological studies from China enable to correlate clinical symptoms and pathological features of COVID-2019 for doctors and provide an insight into COVID-2019 disease.

Cardiac tamponade in a long-term survival esophageal cancer patient after esophageal bypass and chemoradiotherapy: a case report.

Esophageal bypass surgery is an effective treatment strategy for esophageal cancer with esophago-tracheobronchial fistula. We herein report an esophageal cancer patient with esophago-pulmonary fistula who achieved a long-term survival but died suddenly because of cardiac tamponade. A 70-year-old male patient with esophago-pulmonary fistula due to esophageal tumor invasion underwent definitive chemoradiotherapy as the initial treatment. Esophageal bypass surgery followed by additional chemotherapy was performed, and the patient survived for a long time. Four years and six months later, a small abscess in an esophago-pulmonary fistula was visualized on computed tomography. One month later, he suffered suddenly severe dyspnea and died. An autopsy suggested that the direct cause of death had been cardiac tamponade due to atrio-pericardial fistula. Definitive therapy for esophageal cancer with fistula after esophageal bypass is an effective treatment, but close special attention must be paid to the possibility of irradiation-related late toxicity.

A Trial Diagnosis of Ascites Syndrome in Broiler Chickens.

BACKGROUND: Ascites syndrome is currently a serious disease issue for the global chicken industry. Ascites syndrome is a metabolic disorder frequently found in fast growing broilers including abdominal distention and standing fluid collection in chicken abdomen. It is one of the most common nutrition metabolic disorders. MATERIALS AND METHODS: In this study, the clinical diagnosis technology of broiler ascites symptoms mainly included the trial inquiry of feeders and administrators, local observation, detection of farm gas and faeces and pathological autopsy. RESULTS: The study investigated the case of broiler ascites syndrome of local commercial broiler chickens at the age of 4-5 weeks to reduce outburst of ascites syndrome in broiler chickens. Through the trial clinical diagnosis of broiler ascites symptoms and pathological autopsy and observation, it came to the definite diagnosis of broiler ascites. Subsequent investigation found that the rearing houses were closed and sealed with poor ventilation and a high breeding density and much ammonia gas. CONCLUSION: Under the comprehensive management and drug treatments, there were 800 chickens found ill and later came back to normal from illness after the treatments, except for the death of 38 sick chickens. The appetite and drink of broiler chicken came to normal gradually.