Autopsy and Case Reports 

About: Autopsy and Case Reports is an academic journal published by University of São Paulo. The journal publishes majorly in the area(s): Medicine & Internal medicine. It has an ISSN identifier of 2236-1960. It is also open access. Over the lifetime, 654 publications have been published receiving 2021 citations.

Phosphaturic mesenchymal tumor (PMT): exceptionally rare disease, yet crucial not to miss.

Abstract: Phosphaturic mesenchymal tumors (PMTs) are very rare tumors which are frequently associated with Tumor Induced Osteomalacia (TIO), a paraneoplastic syndrome that manifests as renal phosphate wasting. The tumor cells produce a peptide hormone-like substance known as fibroblast growth factor 23 (FGF23), a physiologic regulator of phosphate levels. FGF23 decreases proximal tubule reabsorption of phosphates and inhibits 1-α-hydroxylase, which reduces levels of 1-α, 25-dihydroxyvitamine D3. Thus, overexpression of FGF23 by the tumor cells leads to increased excretion of phosphate in the urine, mobilization of calcium and phosphate from bones, and the reduction of osteoblastic activity, ultimately resulting in widespread osteomalacia. Patients typically present with gradual muscular weakness and diffuse bone pain from pathologic fractures. The diagnosis is often delayed due to the non-specific nature of the symptoms and lack of clinical suspicion. While serum phosphorus and FGF23 testing can assist in making a clinical diagnosis of PMT, the responsible tumor is often difficult to locate. The pathologic diagnosis is often missed due to the rarity of PMTs and histologic overlap with other mesenchymal neoplasms. While patients can experience severe disabilities without treatment, excision is typically curative and results in a dramatic reversal of symptoms. Histologically, PMT has a variable appearance and can resemble other low grade mesenchymal tumors. Even though very few cases of PMT have been reported in the world literature, it is very important to consider this diagnosis in all patients with hypophosphatemic osteomalacia. Here we present a patient who suffered for almost 5 years without a diagnosis. Ultimately, the PMT was located on a 68Ga-DOTA TATE PET/CT scan and subsequently confirmed by histologic and immunohistologic study. Interestingly, strong positivity for FGFR1 by IHC might be related to the recently described FN1-FGFR1 fusion. Upon surgical removal, the patient's phosphate and FGF23 levels returned to normal and the patient's symptoms resolved.

Ovarian teratoma associated Anti-N-methyl-D-aspartate receptor encephalitis: a difficult diagnosis with a favorable prognosis.

Abstract: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a recently described auto-immune and paraneoplastic encephalitis with prominent neuropsychiatric manifestations affecting young adults with ovarian teratoma. The availability of a novel assay to measure these antibodies might suggest an etiology for this potentially life-threatening disease, which if early recognized can be treated promptly with surgery with chances of a good clinical outcome. Reported prognostic indicators for a good outcome depend on the presence of a tumor, prompt treatment and no admission to an intensive care unit. However, due to the rarity and unawareness of this disease, the diagnosis may be delayed as primary psychiatric disorders, and infective encephalitis is taken more into consideration and ruled out first. Here we report a case of anti-NMDAR encephalitis in a 22-year-old female prompted by an ovarian teratoma with a gradual and complete resolution of symptoms after surgical excision of the teratoma and immunomodulating therapies.

Congenital pulmonary airway malformation.

Abstract: Congenital pulmonary airway malformation (CPAM) is a developmental malformation of the lower respiratory tract. We report the case of a male newborn diagnosed with cystic lung disease during prenatal ultrasound. A cesarean section was performed at the 32nd gestational week because of premature rupture of the membranes, and soon after the delivery the newborn developed respiratory failure and died. The aim of this study is to report an autopsy case because of its rarity, and to briefly discuss the CPAM subtypes and differential diagnosis of cystic lung diseases of childhood.

Infective endocarditis: a history of the development of its understanding

Abstract: Inflammation of the inner layer of the heart, especially the valvular endothelium, chordae tendinae and mural endocardium was first recognized almost 350 years ago. Over the years it has had many names, but is now generally designated infective endocarditis (IE) and has an associated infectious agent. A sterile vegetative process can also affect the valves and is usually referred to as Libman-Sacks endocarditis. The developments of medical science that allowed for our understanding of this entity included refinement of the autopsy, medical microscopy, microbiology, and in recent years, molecular studies. Some observations were misleading but clarification particularly followed the reports of Morgagni, Osler and Libman. As understanding of the pathobiology of infective endocarditis grew so did the effectiveness of therapy. This paper provides a detailed history of the development of the concept of Infective endocarditis citing many key morphological observations and concludes with brief comments about current concepts of pathogenesis as well as a few remarks about therapy.

Declining rate of autopsies: implications for anatomic pathology residents.

Abstract: a St. John Hospital and Medical Center, Department of Pathology. Detroit, MI, USA. All physicians and pathologists are well aware of the fact that the autopsy rate has been declining for the last few decades. An autopsy was performed on 40% to 60% of all hospital deaths in the United States before 1970.1,2 Now this rate has gone below 5%.1,2 Our educational institution had a 20-fold decrease in the number of autopsies performed in 2016 as compared to 1970s. This trend is not limited to the United States but is worldwide. Autopsy rates in the United Kingdom decreased from 25.8% in 1979 to just 0.69% of all hospital deaths in 2013.3 The reasons for this decline are manifold but advanced diagnostic modalities are a major contributor. The reasons for decline in autopsy rates, the benefits of autopsy and future of autopsy have been discussed in literature.1-8 Regarding future of autopsy, Laposata6 has proposed a new kind of autopsy; the Diagnostic and Management Autopsy (DMA). The DMA is a review of the diagnostic decisions related to the apparent cause of death by a panel of specialists. Autopsy is a major branch of anatomic pathology and is a broad topic to discuss. Declining autopsy rates have implications for pathology residents as well. As a part of the Accreditation Council for Graduate Medical Education (ACGME) accredited anatomic pathology residency training in the United States, pathology residents are mandated to do 50 autopsies. With the decline in autopsies this number is becoming harder to achieve. To overcome this problem, ACGME allows two residents to share an autopsy. Even this shared autopsy policy may not be sufficient to achieve the desired number of 50 autopsies in the near future, and ACGME may have to reconsider this requirement for the pathology residents to be eligible for the American board of pathology (ABP) examination.