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Int J Surg Pathol 2019 Feb 15:1066896919828111. Epub 2019 Feb 15.

1 Department of Urology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.

Carcinosarcoma of the upper urinary tract is very rare. In this article, we report a case of upper urinary tract carcinosarcoma with rhabdomyoblastic differentiation showing distinct transition between the epithelial and mesenchymal components confirmed by morphology and immunohistochemistry. An 81-year-old female underwent radical nephroureterectomy under the diagnosis of left ureteral urothelial carcinoma (UC). Read More

Medicine (Baltimore) 2019 Feb;98(7):e14471

Department of Respiratory Medicine, Hospital of Chengdu University of Traditional Chinese Medicine.

Rationale: Dieulafoy's lesions are characterized by the presence of a dysplastic artery in the submucosa, most frequently associated with gastrointestinal hemorrhage. They are rarely identified in the bronchial submucosa and can cause massive or fatal hemoptysis PATIENT CONCERNS:: The patient was a 62-year-old male farmer with intermittent hemoptysis of approximately 2 years duration and a definite diagnosis could not be established.

Diagnosis: A thorax-computed tomography at our hospital revealed that the bronchus of left lower lobe was narrowed with associated local atelectasis, and lung cancer was suspected. Read More

J Neurointerv Surg 2019 Feb 13. Epub 2019 Feb 13.

Department of Neurosurgery, West Virginia University Hospital, Morgantown, West Virginia, USA.

A middle-aged patient presented with posterior circulation symptoms attributable to a large eccentric basilar trunk aneurysm. The planned treatment was flow diversion with loose coil packing which was successfully performed using a Pipeline Flex device deployed from the basilar to the left posterior cerebral artery. The complete procedure including live biplane fluoroscopy was digitally recorded. Read More

Cureus 2018 Nov 30;10(11):e3660. Epub 2018 Nov 30.

Neurosurgery, Stanford University School of Medicine, Stanford, USA.

Chronic lymphocytic leukemia (CLL) is the most common type of leukemia that affects older adults in the Western world. Symptomatic nervous system invasion in undiagnosed CLL is rare, poorly understood, challenging to treat, and associated with decreased survival. The average survival of CLL patients with central nervous system (CNS) involvement is 3. Read More

Neuropathology 2019 Feb 5. Epub 2019 Feb 5.

Department of Neuropathology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.

Globular glial tauopathy (GGT) is a group of 4-repeat tauopathies characterized by widespread globular glial inclusions (GGIs). GGT is now classified into three subtypes based on the distribution and morphology of the GGIs. We report an autopsy case of GGT in an 85-year-old woman who presented with semantic dementia, a rare phenotype in GGT. Read More

SAGE Open Med Case Rep 2019 16;7:2050313X18823380. Epub 2019 Jan 16.

Heart & Vascular Institute, Cleveland Clinic, Cleveland, OH, USA.

Background: Myocardial bridge is defined as a segment of a coronary artery that takes an intramyocardial course. The presence of myocardial bridge has been observed in as many as 40%-80% of cases on autopsy, angiographically from 0.5% to 16. Read More

Intern Med 2019 Feb 1. Epub 2019 Feb 1.

Department of Neurology, Kyoto University Graduate School of Medicine, Japan.

Sudden death as a result of multiple system atrophy (MSA) is usually attributed to vocal cord paralysis or disruption of breathing owing to the degeneration of the brainstem respiratory centers. However, the exact pathophysiology of sudden death is still unclear. In addition, specific causes of sudden death are not always investigated by an autopsy. Read More

Brain Pathol 2019 Feb 1. Epub 2019 Feb 1.

Pathology, Tenon Hospital, Paris, France.

We would like to comment on the "Case of the Month" by Magaki et al, entitled "A 44-year old female with familial Mediterranean fever, cardiomyopathy, and end stage renal disease" (3). In this case report, the authors describe the autopsy findings in a patient with systemic AA amyloidosis secondary to familial Mediterranean fever. The patient also had cardiomyopathy with severely reduced left ventricular ejection and death due to cardiac arrest; however, no details about cardiovascular risk factors, cardiac pre-mortem explorations, and heart gross examination were provided. Read More

Int J Hematol 2019 Jan 31. Epub 2019 Jan 31.

Department of Hematology/Oncology, Wakayama Medical University, Wakayama, Japan.

Aggressive natural killer cell leukemia (ANKL) is a rare neoplasm characterized by the systemic infiltration of Epstein-Barr virus (EBV)-associated NK cells, and rapidly progressive clinical course. We report the case of a 45-year-old man with intellectual disability who developed ANKL, and describe the identification of a novel genetic mutation of coiled-coil domain-containing 22 (CCDC22). He presented with persistent fever, severe pancytopenia, and hepatosplenomegary. Read More

Radiol Case Rep 2019 Mar 15;14(3):415-418. Epub 2019 Jan 15.

Department of Biomedical Sciences, University of Sassari, Sassari, Italy.

Klippel-Feil syndrome is a congenital malformation characterized by the fusion of at least 2 cervical vertebrae. It may occur in association with other clinical syndromes and disorders. We describe a case of prenatal diagnosis of a Klippel-Feil syndrome with Dandy-Walker malformation, and spina bifida, proved by ultrasound examination. Read More

BMC Pediatr 2019 Jan 31;19(1):39. Epub 2019 Jan 31.

Department of Pediatrics, JA Toride Medical Center, 2-1-1, Hongo, Toride, Ibaraki, Japan.

Background: Finding an abdominal mass or hematuria is the initial step in diagnosing Wilms tumor. As the first manifestation of Wilms tumor, it is exceedingly rare for pulmonary tumor embolism to present with cardiac arrest. A case of a patient whose sudden cardiac arrest due to massive pulmonary tumor embolism of Wilms tumor was not responsive to resuscitation is presented. Read More

Front Neurol 2018 15;9:1193. Epub 2019 Jan 15.

Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, India.

Diagnosis of the aetiological agent in case of acute encephalitic syndrome (AES) continues to pose a challenge in clinical practice as a variety of pathogens are known to cause AES. Here, we report the validation of a Syndrome Evaluation System (SES) developed for simultaneous detection of multiple AES pathogens using a well characterized set of Cerebrospinal fluid (CSF) samples. The validation of the SES was carried out in two phases. Read More

Medicina (B Aires) 2019 ;79(1):61-63

Instituto de Cardiología y Cirugía Cardiovascular (ICyCC), Hospital Universitario Fundación Favaloro, Buenos Aires, Argentina.

Nonbacterial thrombotic endocarditis, formerly known as marantic endocarditis, it is an infrequent entity in which sterile, fibrin vegetations develop on heart valve leaflets. It is often diagnosed at the time of autopsy or in latestage malignancies. The most common malignancies associated with nonbacterial thrombotic endocarditis are lung, pancreatic, gastric cancer and adenocarcinomas of an unknown primary site. Read More

Pol Merkur Lekarski 2018 Dec;45(270):248-250

3rd Department of Internal Medicine and Cardiology, 2nd Medical Faculty, Medical University of Warsaw, Warsaw, Poland.

Patients with severe diabetic acidosis may present varying electrocardiography (ECG) abnormalities including ST-segment elevation. The authors described a case of 70-year-old type 2 diabetic woman hospitalized due to ST elevation myocardial infarction and serious metabolic disorders. According to the clinical presentation, the ECG abnormalities and the significant rise in myocardial necrosis biomarkers the patient was diagnosed with myocardial infarction and received a typical pharmacological treatment. Read More

Am J Forensic Med Pathol 2019 Jan 23. Epub 2019 Jan 23.

Kentucky Chief Medical Examiner Office, Louisville, KY.

Sudden unexplained death in infancy is a leading cause of death among infants between 1 month and 1 year of age in the United States. The medical examiner is frequently given the difficult task of attempting to rule out other causes of death such as infantile trauma or child abuse. A thorough postmortem examination of the skin is a crucial component of the autopsy, as is sufficient knowledge of both benign and traumatic skin pathologies. Read More

J Alzheimers Dis 2019 ;67(2):757-768

Center for Alzheimer Research and Treatment, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

Background: Instrumental activities of daily living (IADL) impairment and apathy occur in early-stage Alzheimer's disease (AD) and are associated with regional atrophy and hypometabolism in vivo and greater tau burden at autopsy.

Objective: To explore the association between IADL impairment, apathy, and in vivo regional tau in mild cognitive impairment (MCI) and AD dementia.

Methods: Forty participants (24 MCI, 16 AD dementia) underwent assessments of IADL (Functional Activities Questionnaire, FAQ) and apathy (Apathy Evaluation Scale Informant report, AES-I). Read More

J Public Health Res 2018 Dec 20;7(3):1519. Epub 2018 Dec 20.

Section of Legal Medicine and Forensic Science.

The goal of this study is to understand more about the role of asbestos in causing human diseases, first of all mesothelioma, by investigating a large series of deaths due to asbestos-related diseases (ARDs). The main aim is to clarify if even very low amounts of asbestos can cause mesothelioma and other ARDs, as well as to find out if a different individual vulnerability can be important. This retrospective study included 188 subjects who died from asbestos related diseases in 2000-2017 in the area around Broni, Italy, where an important asbestos cement factory had been active from 1932 until 1993. Read More

Transbound Emerg Dis 2019 Jan 26. Epub 2019 Jan 26.

Unidad Mixta Pasteur + INIA (UMPI), Institut Pasteur de Montevideo, Montevideo, Uruguay.

Acute leptospirosis is an infrequent disease in sheep that can cause jaundice, haemolysis, haemoglobinuria, hepatitis and nephritis. In most reports the diagnoses have been made by clinical, pathological or serological evidence without isolation or direct identification of the agent. Here, we report one confirmed and one presumptive outbreak of acute leptospirosis in suckling lambs from two unrelated sheep farms in Uruguay with mortalities of 9/60 (15%) and 9/163 (5. Read More

Audiol Neurootol 2019 Jan 24;23(6):326-334. Epub 2019 Jan 24.

Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.

Charcot-Marie-Tooth (CMT) syndrome is a clinically and genetically heterogeneous group of neuropathies affecting both peripheral motor and sensory nerves. Progressive sensorineural hearing loss, vestibular abnormalities, and dysfunction of other cranial nerves have been described. This is the second case report of otopathology in a patient with CMT syndrome. Read More

Pediatr Crit Care Med 2019 Jan 21. Epub 2019 Jan 21.

All authors: Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO.

Objectives: Identify and characterize pediatric pulmonary emboli present at autopsy.

Design: Retrospective single institution observational study with clinicopathologic correlation.

Setting: Tertiary medical center. Read More

Pathol Int 2019 Feb 23;69(2):97-103. Epub 2019 Jan 23.

Department of Pathology, Saitama Medical Center, Saitama Medical University, Saitama, Japan.

Although intravascular large B-cell lymphoma (IVLBCL) is an extranodal lymphoma characterized by the selective growth of lymphoma cells within the lumina of small vessels, we here report three autopsy cases of IVLBCL characterized by the proliferation within large blood vessels. These three cases were diagnosed as IVLBCL of the bone marrow or skin biopsy. Two cases died suddenly before treatment, whereas the other died during treatment. Read More

BMC Gastroenterol 2019 Jan 21;19(1):12. Epub 2019 Jan 21.

Department of Hematology, Kobe City Hospital Organization, Kobe City Medical Center General Hospital, 2-1-1 Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan.

Background: Encapsulating peritoneal sclerosis (EPS) is a chronic clinical syndrome of acute or subacute gastrointestinal obstruction seen mainly in patients undergoing peritoneal dialysis. Although there are a few reports on EPS developing in non-peritoneal dialysis patients, it has not been reported in patients undergoing allogeneic haematopoietic stem cell transplantation (HSCT). Here, we report a case of EPS after a second HSCT. Read More

Pediatr Dev Pathol 2019 Jan 21:1093526618825411. Epub 2019 Jan 21.

1 Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

Noonan syndrome is a genetic condition with a heterogeneous phenotype and multisystem involvement. The pathogenesis of this disorder has been attributed to the mutations in the RAS/MAPK signaling pathway involved in cell proliferation and differentiation. The most common clinical presentations are related to cardiovascular abnormalities with congestive heart failure as the most common mechanism of death. Read More

Fetal Pediatr Pathol 2019 Jan 19:1-6. Epub 2019 Jan 19.

c Department of Gyneco-Obstetrics, Hospital Habib Bougatfa, Faculty of Medicine of Tunis, University of Tunis El Manar , Tunis , Tunisia.

Background: Congenital cutaneous hemangioma is a benign vascular lesion that is a leading cause of severe hemodynamic compromise in a fetus when it is of significant size and especially in association with arteriovenous malformation.

Case Report: A large cutaneous hemangioma involving the right arm of a 32-week-old male fetus was complicated by fetal hypotrophy, hydrops fetalis and neonatal death. Axillary arteriovenous fistulas and bilateral arterial carotid-subclavian anastomosis were demonstrated at autopsy. Read More

Mol Clin Oncol 2019 Jan 5;10(1):132-136. Epub 2018 Nov 5.

Department of Pathology, Japan Self-Defense Forces Central Hospital, Tokyo 154-8532, Japan.

The present case report describes a rare case of pleural liposarcoma. A 45-year-old Japanese man was hospitalized for increasing left chest pain. Imaging revealed a 10-cm pleural tumor and a 1. Read More

Mol Clin Oncol 2019 Jan 8;10(1):10-16. Epub 2018 Nov 8.

Division of Gastroenterology, Department of Internal Medicine, Sapporo Shirakaba-dai Hospital, Sapporo, Hokkaido 062-0052, Japan.

Paraganglioma and pheochromocytoma are rare neuroendocrine neoplasms that originate from chromaffin cells. In many of these tumors, several mutations are reported to occur in the genes of germline and/or somatic cells. A case of paraganglioma in the posterior mediastinum with highly malignant potential is reported. Read More

Pol J Radiol 2018 17;83:e372-e378. Epub 2018 Sep 17.

Radiology Department, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand.

Purpose: Congenital coronary anomalies are uncommon, with an incidence ranging from 0.17% in autopsy cases to 1.2% in angiographically evaluated cases. Read More

Ann Surg Oncol 2019 Jan 16. Epub 2019 Jan 16.

Department of Surgical Oncology, Osaka City University Graduate School of Medicine, Osaka City, Osaka, Japan.

Background: The prognosis of scirrhous gastric carcinoma (SGC), which is characterized by rapid infiltration and proliferation of cancer cells accompanied by extensive stromal fibrosis, is extremely poor. In this study, we report the establishment of a unique SGC cell line from a gastric cancer patient in whom an autopsy was performed.

Methods: A new SGC cell line, OCUM-14, was established from malignant ascites of a male patient with SGC. Read More

Acute Med Surg 2019 Jan 24;6(1):78-82. Epub 2018 Oct 24.

Department of Traumatology and Critical Care Medicine National Defense Medical College Saitama Japan.

Case: We describe a rare case of antibiotic-associated fulminant pseudomembranous enterocolitis caused by . A 79-year-old man with a history of antibiotic therapy was admitted to our emergency department, complaining of consciousness disturbance. Initially, we suspected septic shock and diabetic ketoacidosis caused by intestinal infection. Read More

Surg Case Rep 2019 Jan 16;5(1). Epub 2019 Jan 16.

Department of Surgery, Sainokuni Higashiomiya Medical Center, 1522, Torocho, Kitaku, Saitama, Saitama, 331-8577, Japan.

Background: Aortoenteric fistula (AEF), occasionally reported as a fatal complication after aortic or other vascular procedures, is a communication between the aorta and the digestive tract. AEF as a fatal complication of overlap esophagojejunostomy after esophagogastrectomy has not been reported previously. Herein, we report a case of AEF after laparoscopic proximal gastrectomy and transhiatal lower esophagectomy for cancer of the esophagogastric junction, in which linear staplers were used for overlap esophagojejunostomy. Read More

Neuropathology 2019 Jan 15. Epub 2019 Jan 15.

Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan.

Globular glial tauopathies (GGTs) are four-repeat tauopathies characterized by the presence of two types of tau-positive globular glial inclusions (GGIs): globular oligodendrocytic and astrocytic inclusions (GOIs and GAIs). GGTs are classified into three different neuropathological subtypes: Types I, II and III. We report two patients with GGTs - a 76-year-old woman and a 70-year-old man - in whom the disease duration was 5 and 6 years, respectively. Read More

J Forensic Sci 2019 Jan 15. Epub 2019 Jan 15.

Department of Pathology, Western Michigan University Homer Stryker MD School of Medicine, Kalamazoo, MI.

Chronic traumatic encephalopathy (CTE) was initially conceptualized in boxers, but has extended to other athletes in recent years, albeit with limited clinical correlations. It is often asserted that CTE pathology represents the substrate for progressive neurodegenerative disease. We report the case of a shotgun injury to the brain with 42-year survival and no neurological disease progression until shortly before death. Read More

Case Rep Pathol 2018 16;2018:5140586. Epub 2018 Dec 16.

Department of Pathology and Laboratory Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, 6 Ohio Drive, Suite 202, Lake Success, New York, 11042, USA.

Intravascular large B-cell lymphoma (IVLBCL) is a rare extra-nodal B-cell lymphoma that proliferates within small/intermediate blood vessels and capillaries while sparing large blood vessels and organ parenchyma. Clinical presentation is highly variable and may include B symptoms, neurological deficits, and/or cutaneous findings. The diagnosis of IVLBCL is difficult due to multiorgan involvement and nonspecific symptoms. Read More

Forensic Sci Med Pathol 2019 Jan 12. Epub 2019 Jan 12.

Office of the Medical Examiner, Greenville County, South Carolina, Pathology Associates of Greenville and the Greenville Health System University Medical Center, Greenville, SC, USA.

Intravascular devices aid in drug administration and fluid replacement for hospitalized patients and are thus an integral part of modern medical care; however, poor aseptic technique and improper manipulation of infusion devices increase the risk of infections secondary to catheterization that can progress to sepsis and septic shock. We report the case of a woman who presented with altered mental status after receiving normal saline through an intravenous catheter placed by a medically untrained individual. Less than 24 h following her initial presentation to emergency medical services the patient became unresponsive to multiple vasopressors and broad-spectrum antibiotics and succumbed to septic shock. Read More

J Med Ultrason (2001) 2019 Jan 14. Epub 2019 Jan 14.

Department of Obstetrics, The Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.

Persistent truncus arteriosus (PTA) is a relatively uncommon congenital heart disease, accounting for approximately 0.7-1.4% of all congenital cardiac abnormalities worldwide. Read More

Histopathology 2019 Jan 12. Epub 2019 Jan 12.

Liver Cancer Research Program, Division of Liver Diseases, Tisch Cancer Institute, Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Background: Access to tissue in patients with hepatocellular carcinoma (HCC) is limited compared to other malignancies, particularly at advanced stages. This has precluded a thorough characterization of molecular drivers of HCC dissemination, particularly in relation to distant metastases. Biomarker assessment is restricted to early stages and paired primary-metastatic comparisons between samples from the same patient are difficul. Read More

Medwave 2018 Dec 12;18(8):e7379. Epub 2018 Dec 12.

Facultad de Medicina, Universidad Nacional de San Agustín, Arequipa, Perú.

Intramyocardial bridges are a coronary circulation anomaly. They usually occur on the path of the anterior descending artery and are classified as superficial or deep. During a routine autopsy, we found—and report—an intramyocardial bridge in large part of the right coronary artery pathway, including the sinoatrial and posterior descending branch. Read More

Clin Genet 2019 Jan 11. Epub 2019 Jan 11.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.

Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is an autosomal dominant developmental disorder characterized by facial dysmorphism, broad thumbs and halluces associated with intellectual disability. RSTS is caused by alterations in CREBBP (about 60%) and EP300 genes (8%). RSTS is often diagnosed at birth or during early childhood but generally not suspected during antenatal period. Read More

Medicine (Baltimore) 2019 Jan;98(2):e14079

Department of Diagnostic Pathology.

Rationale: Pneumatosis intestinalis (PI) and hepatic portal venous gas (HPVG) are rare but potentially lethal conditions in which gas pathologically accumulates in the portal vein and intestinal wall, respectively. Proposed mechanisms include flatus escaping through an injured intestinal mucosa into the submucosa and thence into the portal venous system, or bacterial translocation (BT) of gas-forming enteric microorganisms from the gut into and through the intestinal wall to other organs. However, there has been no clear histopathological evidence to support these hypotheses. Read More

JMIR Res Protoc 2019 Jan 10;8(1):e10854. Epub 2019 Jan 10.

Influenza Program, Centers for Disease Control and Prevention, Nairobi, Kenya.

Background: In sub-Saharan Africa, where the burden of respiratory disease-related deaths is the highest, information on the cause of death remains inadequate because of poor access to health care and limited availability of diagnostic tools. Postmortem examination can aid in the ascertainment of causes of death. This manuscript describes the study protocol for the Pediatric Respiratory Etiology Surveillance Study (PRESS). Read More

Arch Rheumatol 2018 Sep 15;33(3):376-380. Epub 2018 Jan 15.

Department of General Internal Medicine, Rakuwakai Otowa Hospital, Kyoto, Japan.

Interstitial lung disease in polymyositis and dermatomyositis is a serious complication, associated with poor prognosis. In this article, we describe two cases with histological findings of organizing pneumonia, based on transbronchial lung biopsy. One is a 66-year-old female patient with clinically amyopathic dermatomyositis with anti-melanoma differentiation-associated gene 5 antibody, and another is a 61-year-old female patient with polymyositis with anti-Jo-1 antibody. Read More

Turk Patoloji Derg 2019 Jan 11. Epub 2019 Jan 11.

Department of Obstetrics and Gynecology, Istanbul University, School of Medicine Istanbul, ISTANBUL, TURKEY.

Prune belly syndrome (PBS) is characterized by a classical triad of congenitally absent abdominal muscles, bilateral cryptorchidism, and a malformed urinary tract. Urorectal septum malformation sequence (URSM) is identified with the absence of urogenital and anal openings. This case report describes a 15-week-old female fetus with megacystis, ascites and oligohydramnios in a 19-year-old nulliparous woman. Read More

Forensic Sci Med Pathol 2019 Jan 10. Epub 2019 Jan 10.

State Pathologist's Department, Institute of Forensic Medicine, Grosvenor Road, Belfast, BT12 6BS, UK.

We report the case of a 34-year-old woman who died after presenting to hospital with a 2-month history of vomiting, abdominal pain and diarrhea. Subsequent inquiries revealed that she had a history of non-steroidal anti-inflammatory drug (NSAID) abuse, and the autopsy revealed stricture formation consistent with being caused by NSAID enteropathy. Read More

Brain Nerve 2019 Jan;71(1):75-80

Department of Neurology, Ushioda General Hospital.

This is a case report of autopsy findings for a male Japanese patient who presented with progressive gait disturbance and dysarthria. Neurological examination at the age of 61 years revealed pseudobulbar palsy and upper motor neuron disorder. The patient appeared unaware of his illness. Read More

Intern Med 2019 Jan 10. Epub 2019 Jan 10.

Department of Pulmonology, Kameda Medical Center, Japan.

Pulmonary tumor thrombotic microangiopathy (PTTM) is a complication characterized by dyspnea, pulmonary hypertension, and occasionally sudden death. We encountered a man who developed PTTM and had an inhalation history of chemical herbicides and abnormal findings on chest computed tomography, mimicking chemical inhalation lung injury. He was diagnosed with PTTM with adenocarcinoma by a transbronchial lung biopsy and received chemotherapy and anticoagulant therapy. Read More

Geriatr Gerontol Int 2019 Jan 8. Epub 2019 Jan 8.

Department of Pathology, Tokyo Metropolitan Geriatric Hospital, Tokyo, Japan.

Aim: Neutrophil extracellular traps play key roles in the necrotizing vasculitis associated with anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV). However, the relationships between neutrophil extracellular traps formation and the distribution and phase of vasculitis are not well understood. In the present study, we clarified the clinicopathological characteristics of older AAV patients, as well as the expression of citrullinated histone H3 (citH3), a marker of neutrophil extracellular traps, in autopsied AAV patients. Read More

Clin Genet 2019 Jan 7. Epub 2019 Jan 7.

Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, France.

Bardet-Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction. Before birth, enlarged/cystic kidneys as well as polydactyly are the hallmark signs of BBS to consider in absence of familial history. However, these findings are not specific to BBS, raising the problem of differential diagnoses and prognosis. Read More

Neuropathology 2019 Jan 4. Epub 2019 Jan 4.

Faculty of Cancer Pathology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

For delayed radiation injury, image analysis has considerably advanced, but neuropathological findings are still required to establish diagnosis. A patient who had received radiation therapy for pineal germinoma at age 14 developed neurological and psychiatric abnormalities after 15 years as a late delayed radiation injury. Autopsy at age 59 revealed diffuse changes in the white matter consisting in order of severity of myelin pallor, demyelination, and necrosis which were characterized by a lack of glial reaction. Read More

Acta Neuropathol Commun 2019 Jan 3;7(1). Epub 2019 Jan 3.

Neurology V - Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.

Prion diseases are neurodegenerative disorders which are caused by an accumulation of the abnormal, misfolded prion protein known as scrapie prion protein (PrP). These disorders are unique as they occur as sporadic, genetic and acquired forms. Sporadic Creutzfeldt-Jakob Disease (CJD) is the most common human prion disease, accounting for approximately 85-90% of cases, whereas autosomal dominant genetic forms, due to mutations in the prion protein gene (PRNP), account for 10-15% of cases. Read More

Diabetol Int 2018 Jul 21;9(3):196-200. Epub 2018 Feb 21.

Department of Endocrinology, Diabetes and Geriatric Medicine, Akita University Graduate School of Medicine, 1-1-1 Hondo, Akita, 010-8543 Japan.

We herein report a case of a 60-year-old female receiving hemodialysis who developed severe hyperinsulinemic hypoglycemia and lost her consciousness. A calcimimetic agent had been administered for the secondary hyperparathyroidism. The calcimimetic agent, mimicking the elevation of the extracellular calcium ion concentration, activates calcium-sensing receptors (CaSR) of the parathyroid cells and inhibits the parathyroid hormone secretions. Read More